901 (64.1%)
|
Microform holoprosencephaly
|
Cleft palate
Elbow dislocation
Hypoplastic radial head
Microcephaly
Short philtrum
Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage.
Orphanet:280200
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|
902 (64.0%)
|
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
|
Abnormal number of incisors
Epicanthus
Finger clinodactyly
Retrognathia
X-linked recessive inheritance
An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features.
Orphanet:2958
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GTR:C1839730
|
902 (64.0%)
|
Intellectual disability, Buenos-Aires type
|
Clinodactyly of the 5th finger
Downslanted palpebral fissures
High palate
Mandibular prognathia
Autosomal recessive inheritance
Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.
Orphanet:3079
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GTR:C0796080
|
904 (64.0%)
|
Craniofacial-deafness-hand syndrome
|
Abnormality of the wrist
Downslanted palpebral fissures
Hypoplasia of the maxilla
Narrow mouth
Ulnar deviation of finger
Autosomal dominant inheritance
Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.
Orphanet:1529
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KEGG:H00446
GTR:C1852510
|
904 (64.0%)
|
Dislocation of the hip-dysmorphism syndrome
|
Deviation of finger
Epicanthus
Narrow mouth
Prominence of the premaxilla
Autosomal dominant inheritance
Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995.
Orphanet:2412
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|
906 (63.9%)
|
Nijmegen breakage syndrome
|
Abnormal eyelid morphology
Microcephaly
Non-midline cleft lip
Retrognathia
Autosomal recessive inheritance
Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.
Orphanet:647
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KEGG:H01344
Gene Reviews
GTR:C0398791
GTR:C2930831
|
907 (63.9%)
|
Microcephaly-seizures-intellectual disability-heart disease syndrome
|
Epicanthus
Postaxial hand polydactyly
Short ribs
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989.
Orphanet:2519
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GTR:C2931529
|
908 (63.9%)
|
Emery-Nelson syndrome
|
Brachydactyly
High palate
Long philtrum
Metacarpophalangeal joint contracture
Autosomal dominant inheritance
Emery-Nelson syndrome is a rare congenital limb malformation syndrome characterized by facial dysmorphism (high forehead, depressed nasal bridge, long philtrum, flat malar region, high arched palate), short stature and deformities of the hands and feet (small hands/feet, flexion contractures of the first three metacarpophalangeal joints, extension contractures of the thumbs at the interphalangeal joints, clawed toes, mild pes cavus). Additional features include neonatal hypotonia, thin and shiny skin of the hands/feet, ridged nails, dry and coarse hair, mild weakness of the orbicularis oculi muscles and occasional ventricular extrasystoles. Intellectual disability may be present. There have been no further descriptions in the literature since 1970.
Orphanet:1927
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GTR:C1841693
|
909 (63.9%)
|
Absence deformity of leg-cataract syndrome
|
Lower limb undergrowth
Visual impairment
Autosomal recessive inheritance
A very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.
Orphanet:2310
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GTR:C1855523
|
909 (63.9%)
|
Spondyloepimetaphyseal dysplasia, Missouri type
|
Abnormality of the metaphysis
Short lower limbs
Autosomal dominant inheritance
Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.
Orphanet:93356
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GTR:C1865832
|
911 (63.8%)
|
Mandibuloacral dysplasia
|
High palate
Micrognathia
Osteolytic defects of the distal phalanges of the hand
Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.
Orphanet:2457
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GTR:C0432291
|
911 (63.8%)
|
Autosomal semi-dominant severe lipodystrophic laminopathy
|
Advanced eruption of teeth
Increased facial adipose tissue
Micrognathia
Osteolytic defects of the phalanges of the hand
Orphanet:280365
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|
913 (63.8%)
|
Congenital radioulnar synostosis
|
Anterior radial head dislocation
Glossoptosis
Micrognathia
Autosomal dominant inheritance
Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.
Orphanet:3269
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GTR:C0158761
GTR:C0431795
|
914 (63.8%)
|
Craniolenticulosutural dysplasia
|
High iliac wings
Hypoplasia of the maxilla
Smooth philtrum
Wide mouth
Autosomal recessive inheritance
Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.
Orphanet:50814
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KEGG:H01105
GTR:C1843042
|
915 (63.8%)
|
Brachydactyly-elbow wrist dysplasia syndrome
|
Abnormality of the ulna
Aplasia/Hypoplasia of the radius
Macrocephaly
Autosomal dominant inheritance
Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.
Orphanet:1275
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|
916 (63.7%)
|
Patent urachus
|
Micrognathia
Telecanthus
Tibial bowing
Patent urachus is a type of congenital urachal anomaly (see this term) characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus.
Orphanet:431341
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|
916 (63.7%)
|
Arthrochalasia Ehlers-Danlos syndrome
|
Avascular necrosis of the capital femoral epiphysis
Epicanthus
Micrognathia
Autosomal dominant inheritance
Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.
Orphanet:1899
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KEGG:H02243
GTR:C0268345
|
916 (63.7%)
|
Dermatosparaxis Ehlers-Danlos syndrome
|
Avascular necrosis of the capital femoral epiphysis
Epicanthus
Micrognathia
Autosomal recessive inheritance
Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. The dermatosparaxis type (formerly called EDS type VIIC) is marked by extremely fragile tissues, hyperextensible skin and easy bruising. Facial skin contains numerous folds, as in the cutis laxa syndrome. Umbilical or inguinal hernias have also been described. Dermatosparaxis is extremely rare and few cases only have been reported. The disease is transmitted as an autosomal recessive trait. It is due to N-terminal procollagen I peptidase deficiency causing abnormal maturation of the alpha1 (I) and alpha2 (I) collagen I pro-chains, in which the aminoterminal propeptide is incorrectly cleaved. The causative gene, ADAMTS2, has been localised to 5q23. The homozygous mutation Q225X was present in 80% of cases subjected to molecular analysis. There is no specific treatment available for this disease, but symptomatic management should be offered in a specialised centre.
Orphanet:1901
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KEGG:H02244
GTR:C2700425
|
919 (63.7%)
|
Hypochondroplasia
|
Brachydactyly
Macrocephaly
Short long bone
Short toe
Autosomal dominant inheritance
Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.
Orphanet:429
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KEGG:H02068
Gene Reviews
GTR:C0410529
|
920 (63.7%)
|
Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
|
Brachydactyly
High palate
Mandibular prognathia
Autosomal dominant inheritance
This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present.
Orphanet:2180
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GTR:C2931197
|
920 (63.7%)
|
Rabson-Mendenhall syndrome
|
Abnormality of the dentition
Brachydactyly
Mandibular prognathia
Autosomal recessive inheritance
A rare syndrome that belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes).
Orphanet:769
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KEGG:H00942
Gene Reviews
GTR:C0271695
|
922 (63.7%)
|
Ascher syndrome
|
Abnormal eyelid morphology
Abnormality of upper lip
Deviation of finger
Autosomal dominant inheritance
A very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported.
Orphanet:1253
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GTR:C0339085
|
922 (63.7%)
|
Brain malformation-congenital heart disease-postaxial polydactyly syndrome
|
Everted lower lip vermilion
Long philtrum
Postaxial hand polydactyly
Upslanted palpebral fissure
Goossens-Devriendt syndrome is characterised by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay.
Orphanet:75389
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|
924 (63.7%)
|
Pterygium colli-intellectual disability-digital anomalies syndrome
|
Brachycephaly
Broad distal phalanx of finger
Enlarged interphalangeal joints
Epicanthus inversus
Autosomal dominant inheritance
X-linked dominant inheritance
A rare disorder characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.
Orphanet:2988
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GTR:C1838562
|
924 (63.7%)
|
Greig cephalopolysyndactyly syndrome
|
Broad thumb
High forehead
Postaxial hand polydactyly
Telecanthus
Trigonocephaly
Autosomal dominant inheritance
Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.
Orphanet:380
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KEGG:H02161
Gene Reviews
GTR:C0265306
|
926 (63.6%)
|
Intellectual disability-short stature-hypertelorism syndrome
|
Broad forehead
Clinodactyly of the 5th finger
Hypoplasia of the zygomatic bone
Long philtrum
Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability characterized by short stature, mild to moderate intellectual disability, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia, typically present until infancy. There have been no further descriptions in the literature since 1991.
Orphanet:3074
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|
927 (63.5%)
|
Paternal uniparental disomy of chromosome X
|
Low posterior hairline
Short metacarpal
A uniparental disomy of paternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the father is a carrier and specific phenotype depends on the inherited disorder.
Orphanet:261524
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|
927 (63.5%)
|
Spondylometaphyseal dysplasia, Sedaghatian type
|
Short metacarpal
Short palm
Turricephaly
Autosomal recessive inheritance
Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.
Orphanet:93317
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KEGG:H01825
GTR:C1855229
|
927 (63.5%)
|
Senior-Loken syndrome
|
Dandy-Walker malformation
Short metacarpal
Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.
Orphanet:3156
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GTR:C0403553
|
927 (63.5%)
|
Linear verrucous nevus syndrome
|
Macrocephaly
Short metacarpal
Orphanet:2611
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|
931 (63.5%)
|
FGFR2-related bent bone dysplasia
|
Bowing of the legs
Brachydactyly
Gingival overgrowth
Micrognathia
Autosomal dominant inheritance
FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophtalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated.
Orphanet:313855
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|
932 (63.5%)
|
Metaphyseal chondrodysplasia, Spahr type
|
Abnormality of the dentition
Short lower limbs
Autosomal recessive inheritance
A rare, genetic, primary bone dysplasia disease characterized by usually moderate, postnatal short stature, progressive genu vara deformity, a waddling gait, and radiological signs of metaphyseal dysplasia (i.e. irregular, sclerotic and widened metaphyses), in the absence of biochemical abnormalities suggestive of rickets disease. Intermittent knee pain, lordosis, and delayed motor development may also occasionally be associated.
Orphanet:2501
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GTR:C0432225
|
933 (63.5%)
|
Leri pleonosteosis
|
Blepharophimosis
Brachydactyly
Broad thumb
Scoliosis
Autosomal dominant inheritance
Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.
Orphanet:2900
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GTR:C0265311
GTR:C1835450
|
934 (63.5%)
|
Tetra-amelia
|
High, narrow palate
Hypoplastic lacrimal duct
Micrognathia
A rare, non-syndromic, limb reduction defect characterized by the partial or complete absence of all four limbs. Sometimes, other malformations may be associated.
Orphanet:294971
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|
934 (63.5%)
|
Ring chromosome 9 syndrome
|
Broad eyebrow
Micrognathia
Protruding tongue
Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.
Orphanet:96173
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GTR:C0265430
GTR:C2931693
|
934 (63.5%)
|
Axial mesodermal dysplasia spectrum
|
Gingival overgrowth
Limbal dermoid
Micrognathia
Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula.
Orphanet:1834
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GTR:C2931613
|
934 (63.5%)
|
Neuroblastoma
|
Microdontia
Micrognathia
Synophrys
Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.
Orphanet:635
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GTR:C0027819
GTR:C2931189
|
938 (63.5%)
|
Agnathia-holoprosencephaly-situs inversus syndrome
|
Aplasia/Hypoplasia of the eyebrow
Mandibular aplasia
Narrow mouth
Autosomal dominant inheritance
Autosomal recessive inheritance
An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.
Orphanet:990
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KEGG:H02118
|
939 (63.5%)
|
Non-distal monosomy 10q
|
Biparietal narrowing
Clinodactyly of the 5th finger
Epicanthus
Overlapping fingers
Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.
Orphanet:1581
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|
940 (63.5%)
|
5q14.3 microdeletion syndrome
|
Open mouth
Short philtrum
Toe syndactyly
Upslanted palpebral fissure
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.
Orphanet:228384
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|
941 (63.5%)
|
Syndactyly type 3
|
Short toe
Autosomal dominant inheritance
Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.
Orphanet:93404
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GTR:C1861366
|
942 (63.5%)
|
Cockayne syndrome
|
Abnormal palate morphology
Large hands
Microcephaly
Oral cleft
Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.
Orphanet:191
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GTR:C0009207
|
943 (63.5%)
|
Desmoid tumor
|
Trismus
Ulnar bowing
Autosomal dominant inheritance
A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.
Orphanet:873
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GTR:C0079218
|
944 (63.4%)
|
20q11.2 microdeletion syndrome
|
Adducted thumb
Brachydactyly
Frontal bossing
Short philtrum
A rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.
Orphanet:444051
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|
945 (63.4%)
|
Hypogonadism-mitral valve prolapse-intellectual disability syndrome
|
Abnormality of the metacarpal bones
Abnormality of the ulna
Downslanted palpebral fissures
High palate
Short neck
This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature.
Orphanet:2233
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GTR:C2931685
|
946 (63.4%)
|
Achalasia-microcephaly syndrome
|
Epicanthus
Micrognathia
Autosomal recessive inheritance
An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case.
Orphanet:929
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GTR:C1860212
|
946 (63.4%)
|
Craniodigital-intellectual disability syndrome
|
Long eyelashes
Micrognathia
Narrow nasal bridge
Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.
Orphanet:1514
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GTR:C1839311
|
946 (63.4%)
|
Cystic fibrosis-gastritis-megaloblastic anemia syndrome
|
Micrognathia
Telecanthus
Wide nasal bridge
Autosomal recessive inheritance
Cystic fibrosis-gastritis-megaloblastic anemia, or Lubani-Al Saleh-Teebi syndrome, is a rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.
Orphanet:2575
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GTR:C2931402
|
946 (63.4%)
|
Submucosal cleft palate
|
Facial asymmetry
Long palpebral fissure
Micrognathia
Orphanet:155878
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|
946 (63.4%)
|
Neonatal hemochromatosis
|
Blepharophimosis
Micrognathia
Prominent nose
Autosomal recessive inheritance
Neonatal hemochromatosis (NH) is an iron storage disorder present at birth. It is a distinct entity that differs from adult hemochromatosis with respect to its molecular origin.
Orphanet:446
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GTR:C0268059
|
946 (63.4%)
|
Nasolacrimal duct cyst
|
Chalazion
Micrognathia
Nasolacrimal duct obstruction
Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females.
Orphanet:141083
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GTR:C0155241
|
946 (63.4%)
|
Cat-eye syndrome
|
Downslanted palpebral fissures
Micrognathia
Preauricular skin tag
Autosomal dominant inheritance
Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.
Orphanet:195
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GTR:C0265493
|
946 (63.4%)
|
Ocular anomalies-axonal neuropathy-developmental delay syndrome
|
Long face
Micrognathia
Upslanted palpebral fissure
Orphanet:496790
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|
954 (63.4%)
|
Isolated Pierre Robin syndrome
|
Cleft palate
Glossoptosis
Micrognathia
Autosomal recessive inheritance
Pierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft.
Orphanet:718
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GTR:C0031900
|
954 (63.4%)
|
Isotretinoin syndrome
|
Cleft palate
Micrognathia
Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy.
Orphanet:2305
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GTR:C2930972
GTR:C0432364
|
954 (63.4%)
|
Amish lethal microcephaly
|
Cleft soft palate
Micrognathia
Autosomal recessive inheritance
A very rare syndrome characterized by extreme microcephaly and early death, within the first year.
Orphanet:99742
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KEGG:H00990
Gene Reviews
GTR:C1846648
|
954 (63.4%)
|
Auriculocondylar syndrome
|
Cleft palate
Micrognathia
Narrow mouth
A rare disorder that presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.
Orphanet:137888
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GTR:C1865295
|
958 (63.4%)
|
Larsen-like osseous dysplasia-short stature syndrome
|
Abnormality of the metacarpal bones
Brachydactyly
Narrow mouth
Scoliosis
Thin vermilion border
Sporadic
Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.
Orphanet:2370
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|
959 (63.3%)
|
Pili torti
|
Abnormal eyebrow morphology
Scoliosis
Syndactyly
Unilateral cleft lip
Autosomal dominant inheritance
Autosomal recessive inheritance
Sporadic
Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms).
Orphanet:2889
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GTR:C0263491
|
960 (63.3%)
|
Microphthalmia, Lenz type
|
Ankyloblepharon
Clinodactyly of the 5th finger
Microcephaly
Oral cleft
Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms).
Orphanet:568
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GTR:C0796016
|
961 (63.3%)
|
Ring chromosome 15 syndrome
|
Small hand
Triangular face
Ring chromosome 15 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, characterized by pre- and/or postnatal growth retardation, variable intellectual disability, short stature, dysmorphic features (microcephaly, triangular facies, frontal bossing, hypertelorism, ear anomaly, broad nasal bridge, highly arched palate, micrognathism), hand and feet anomalies (e.g. brachydactyly, clinodactyly, syndactyly), and multiple hyperpigmented and/or hypopigmented spots. Severe phenotypes present with cardiac abnormalities and/or renal malformations. Other reported features include hypotonia, speech delay, talipes equinovarus, and genital anomalies (cryptorchidism and hypospadias).
Orphanet:96177
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GTR:C2931703
|
961 (63.3%)
|
X-linked intellectual disability, Cilliers type
|
Prominent supraorbital ridges
Small hand
X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).
Orphanet:163971
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|
963 (63.3%)
|
Paternal uniparental disomy of chromosome 6
|
Macroglossia
Micrognathia
Shallow orbits
Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.
Orphanet:96191
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|
964 (63.2%)
|
Lelis syndrome
|
Furrowed tongue
Mandibular prognathia
Palmoplantar hyperkeratosis
Upslanted palpebral fissure
Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.
Orphanet:140936
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GTR:C1842307
|
964 (63.2%)
|
Graft versus host disease
|
Cicatricial ectropion
Dupuytren contracture
Limited elbow movement
Oral ulcer
Trismus
A rare disease that occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen.
Orphanet:39812
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GTR:C0018133
|
966 (63.2%)
|
Constriction rings syndrome
|
Cleft lip
Microcephaly
Pierre-Robin sequence
Pseudarthrosis of the radius
Split hand
Sporadic
Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.
Orphanet:295000
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|
967 (63.2%)
|
Satoyoshi syndrome
|
Abnormality of the humerus
Gingivitis
Microcephaly
Sparse or absent eyelashes
Tapered finger
Sporadic
Satoyoshi syndrome is a rare, multisystemic autoimmune disease mainly characterized by intermittent painful muscle spasms, alopecia (totalis or universalis in most cases) and long-lasting diarrhea that could lead to malnutrition, growth retardation, and amenorrhea. Secondary bone deformities and various endocrine anomalies may also be associated. Antinuclear antibodies are reported in many cases.
Orphanet:3130
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GTR:C1833454
|
968 (63.1%)
|
Stüve-Wiedemann syndrome
|
Abnormality of the dentition
Camptodactyly of finger
Micromelia
Trismus
Autosomal recessive inheritance
Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.
Orphanet:3206
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KEGG:H00462
GTR:C0432240
GTR:C0796176
|
969 (63.1%)
|
Trigeminal neuralgia
|
Difficulty in tongue movements
Hemiatrophy
Trismus
Autosomal dominant inheritance
Orphanet:221091
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GTR:C0040997
|
969 (63.1%)
|
Meningioma
|
Facial myokymia
Hemiatrophy
Hypodontia
Trismus
A rare, mostly benign, primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding.
Orphanet:2495
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GTR:C0025286
|
971 (63.0%)
|
Mosaic trisomy 20
|
Dandy-Walker malformation
Short femur
Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported.
Orphanet:1724
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|
972 (63.0%)
|
14q12 microdeletion syndrome
|
Epicanthus
Mandibular prognathia
Microcephaly
Smooth philtrum
14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.
Orphanet:261144
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|
973 (63.0%)
|
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
|
Limb hypertonia
Long eyelashes
Microcephaly
Thick lower lip vermilion
Autosomal recessive inheritance
Orphanet:466688
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|
973 (63.0%)
|
1q41q42 microdeletion syndrome
|
Frontal bossing
Talipes equinovarus
Thick vermilion border
Upslanted palpebral fissure
Autosomal dominant inheritance
Sporadic
1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.
Orphanet:250999
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|
975 (62.9%)
|
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
|
Abnormality of female external genitalia
Abnormality of the metacarpal bones
Aplasia/Hypoplasia of the phalanges of the toes
Autosomal recessive inheritance
An extremely rare congenital limb malformation syndrome, described in only 3 patients to date,characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.
Orphanet:1112
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GTR:C1859754
|
976 (62.9%)
|
Diaphanospondylodysostosis
|
Cleft palate
Short ribs
Autosomal recessive inheritance
Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.
Orphanet:66637
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KEGG:H01844
GTR:C1842691
|
976 (62.9%)
|
Caudal regression sequence
|
Missing ribs
Oral cleft
Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine.
Orphanet:3027
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GTR:C0300948
GTR:C0344490
GTR:C2609260
GTR:C1867774
|
978 (62.9%)
|
Distal monosomy 13q
|
Aplasia/Hypoplasia of the thumb
Microcephaly
Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.
Orphanet:1590
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GTR:C1865208
GTR:C2930913
|
979 (62.9%)
|
Microcephalic primordial dwarfism, Toriello type
|
Abnormality of epiphysis morphology
Brachydactyly
Downslanted palpebral fissures
Downturned corners of mouth
Microcephaly
Autosomal recessive inheritance
A rare disorder characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.
Orphanet:2643
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GTR:C1855089
|
980 (62.8%)
|
Dermatomyositis
|
Abnormal eyelid morphology
Cheilitis
Chest pain
Clubbing
A type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness.
Orphanet:221
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GTR:C0011633
GTR:C0221056
|
981 (62.8%)
|
Diencephalic syndrome
|
Everted lower lip vermilion
Large hands
Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesia and euphoria, in the presence of hypothalamic tumors.
Orphanet:1672
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GTR:C0271889
GTR:C0342436
|
982 (62.7%)
|
Acromesomelic dysplasia, Maroteaux type
|
Acromesomelia
Brachydactyly
Frontal bossing
Autosomal recessive inheritance
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type .
Orphanet:40
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KEGG:H00470
GTR:C1864356
|
983 (62.7%)
|
Familial infantile gigantism
|
Coarse facial features
Large hands
Mandibular prognathia
Familial infantile gigantism is a rare, genetic, endocrine disease characterized by early-onset (before the age of five years old) excessive acceleration of linear growth and body size (height Z-score >4.5 SD) due to pituitary mixed growth hormone- and prolactin-secreting adenomas and/or mixed-cell pituitary hyperplasia. Patients present gigantism and may associate acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, appetite increase and acanthosis nigricans.
Orphanet:300373
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|
983 (62.7%)
|
Pituitary gigantism
|
Coarse facial features
Large hands
Mandibular prognathia
A rare endocrine disease characterized by unusually tall stature (with rapid growth velocity), occurring before closure of the epiphyseal growth plates, due to excessive growth hormone (GH) caused by a GH-secreting pituitary tumor or from pituitary hyperplasia. Additional associated features may include pubertal delay, visual defects, headache, excessive appetite, hyperhidrosis and menstrual irregularity, as well as variable manifestations characteristic of acromegaly, such as prognathism, coarse facial features and large hands/feet in adolescents.
Orphanet:99725
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GTR:C0017547
|
985 (62.6%)
|
Mucopolysaccharidosis type 2
|
Abnormality of the hip bone
Macroglossia
Mandibular prognathia
Thick lower lip vermilion
X-linked recessive inheritance
A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement.
Orphanet:580
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KEGG:H00129
Gene Reviews
GTR:C0026705
GTR:C2718304
|
986 (62.6%)
|
Bone dysplasia, lethal Holmgren type
|
Abnormal thumb morphology
High forehead
Micromelia
Short ribs
Autosomal recessive inheritance
Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988.
Orphanet:1842
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GTR:C1859407
|
987 (62.6%)
|
Blepharophimosis-intellectual disability syndrome, Ohdo type
|
Abnormal palmar dermatoglyphics
Blepharophimosis
Cleft palate
Microcephaly
Autosomal dominant inheritance
Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
Orphanet:2728
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GTR:C2931643
GTR:C0796094
|
988 (62.5%)
|
Thoracomelic dysplasia
|
Limb undergrowth
Round face
Short ribs
Autosomal recessive inheritance
Thoracomelic dysplasia is an extremely rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. No acetabular spurs nor phalangeal cone-shaped epiphyses are present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988.
Orphanet:1803
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GTR:C2931227
GTR:C1848863
|
988 (62.5%)
|
Dyggve-Melchior-Clausen disease
|
Coarse facial features
Hypoplasia of the odontoid process
Micromelia
Autosomal recessive inheritance
Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term).
Orphanet:239
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KEGG:H00757
GTR:C0265286
|
990 (62.5%)
|
Aneurysm-osteoarthritis syndrome
|
Arachnodactyly
Cleft palate
Retrognathia
Autosomal dominant inheritance
A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (incl. long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and, a raphe, broad or bifid uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additonal cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation.
Orphanet:284984
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Gene Reviews
|
991 (62.5%)
|
Amelogenesis imperfecta
|
Gingival fibromatosis
Short femoral neck
A rare genetic odontal or periodontal disorder that represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.
Orphanet:88661
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GTR:C0002452
|
991 (62.5%)
|
Legg-Calvé-Perthes disease
|
Abnormality of the dentition
Proximal femoral focal deficiency
Autosomal dominant inheritance
Multifactorial inheritance
A rare disorder characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children.
Orphanet:2380
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KEGG:H01526
GTR:C0023234
|
993 (62.5%)
|
Coxopodopatellar syndrome
|
Hip dysplasia
Patellar hypoplasia
Autosomal dominant inheritance
Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.
Orphanet:1509
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KEGG:H00461
GTR:C1840061
GTR:C1868581
|
993 (62.5%)
|
Femoral agenesis/hypoplasia
|
Joint dislocation
Proximal femoral focal deficiency
Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.
Orphanet:1987
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GTR:C0345375
|
993 (62.5%)
|
Aniridia-absent patella syndrome
|
Aplasia/Hypoplasia of the patella
Inguinal hernia
Autosomal dominant inheritance
A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.
Orphanet:1069
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GTR:C1862868
|
993 (62.5%)
|
Nail-patella syndrome
|
Patellar hypoplasia
Renal insufficiency
Autosomal dominant inheritance
Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.
Orphanet:2614
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KEGG:H00464
Gene Reviews
GTR:C0027341
|
997 (62.5%)
|
Severe generalized recessive dystrophic epidermolysis bullosa
|
Blepharitis
Mitten deformity
Narrow mouth
Autosomal recessive inheritance
Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.
Orphanet:79408
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Gene Reviews
|
997 (62.5%)
|
Deafness-enamel hypoplasia-nail defects syndrome
|
Abnormal eyelid morphology
Abnormality of the dentition
Large hands
Deafness-enamel hypoplasia-nail defects syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.
Orphanet:3220
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GTR:C1856186
|
999 (62.4%)
|
Rett syndrome
|
Abnormality of the dentition
Abnormality of the metacarpal bones
Clinodactyly of the 5th finger
Trismus
X-linked dominant inheritance
Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.
Orphanet:778
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KEGG:H00440
GTR:C0035372
|
1000 (62.4%)
|
Orofaciodigital syndrome type 5
|
Median cleft lip
Microcephaly
Postaxial hand polydactyly
Autosomal recessive inheritance
Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).
Orphanet:2919
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GTR:C1868118
|