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Total: 4,609 results


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Rank
(Similarity)
Disease Name
Matched Phenotype  Causative Gene  Modes of Inheritance

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       Find images (Google)       Find case reports       Monarch      

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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch      

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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch      

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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch      

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       Find images (Google)       Find case reports       Monarch      

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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch      

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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch      

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       Find images (Google)       Find case reports       Monarch      

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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch       GTR:C0403553

927
(63.5%)

Linear verrucous nevus syndrome

Macrocephaly Short metacarpal

Orphanet:2611       Find images (Google)       Find case reports       Monarch      

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       Find images (Google)       Find case reports       Monarch      

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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch      

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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch      

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       Find images (Google)       Find case reports       Monarch      

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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch      

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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch       GTR:C2931402

946
(63.4%)

Submucosal cleft palate

Facial asymmetry Long palpebral fissure Micrognathia

Orphanet:155878       Find images (Google)       Find case reports       Monarch      

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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch       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       Find images (Google)       Find case reports       Monarch       GTR:C0265493

946
(63.4%)

Ocular anomalies-axonal neuropathy-developmental delay syndrome

Long face Micrognathia Upslanted palpebral fissure

Orphanet:496790       Find images (Google)       Find case reports       Monarch      

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.

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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.

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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.

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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.

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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.

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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).

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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).

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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).

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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).

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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.

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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.

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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.

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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.

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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.

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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.

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969
(63.1%)

Trigeminal neuralgia

Difficulty in tongue movements Hemiatrophy Trismus

Autosomal dominant inheritance

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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.

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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.

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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.

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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

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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 .

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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.

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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.

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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.

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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.

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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.

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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.

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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).

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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       Find images (Google)       Find case reports       Monarch       GTR:C1868118