361 (72.1%)
|
Mosaic trisomy 9
|
Cleft palate
Finger clinodactyly
Micrognathia
Micromelia
Telecanthus
Mosaic trisomy 9 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intellectual disability, growth and developmental delay, facial dysmorphism (incl. microphthalmia, deep-set eyes, low-set, malformed ears, bulbous nose, high-arched palate, micrognathia) and congenital heart defects (e.g. ventricular septal defect), as well as urogenital (e.g. hypoplastic genitalia, cryptorchidism), skeletal (congenital joint dislocations or hyperflexion, scoliosis/kyphosis) and central nervous system anomalies (hydrocephalus, Dandy-Walker malformation). Pigmentary mosaic skin lesions along the lines of Blaschko are also frequently observed.
Orphanet:99776
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GTR:C2930908
|
361 (72.1%)
|
Marfan syndrome
|
Arachnodactyly
Cleft palate
Downslanted palpebral fissures
Micrognathia
Rhizomelia
Autosomal dominant inheritance
Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.
Orphanet:558
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KEGG:H00653
Gene Reviews
GTR:C0024796
|
363 (72.1%)
|
Megalocornea-intellectual disability syndrome
|
Epicanthus
Genu varum
Micrognathia
Short philtrum
Tapered finger
Autosomal recessive inheritance
Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.
Orphanet:2479
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GTR:C0796086
|
363 (72.1%)
|
Cohen syndrome
|
Abnormal eyelid morphology
Arachnodactyly
Genu valgum
Micrognathia
Short philtrum
Autosomal recessive inheritance
Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.
Orphanet:193
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KEGG:H00940
Gene Reviews
GTR:C0265223
|
365 (72.1%)
|
Multiple epiphyseal dysplasia, Lowry type
|
Cleft palate
Micrognathia
Rhizomelia
Upslanted palpebral fissure
Sporadic
Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.
Orphanet:166016
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GTR:C1832112
|
365 (72.1%)
|
Desmosterolosis
|
Cleft palate
Epicanthus
Micrognathia
Micromelia
Autosomal recessive inheritance
Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.
Orphanet:35107
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KEGG:H00617
GTR:C1865596
|
367 (72.0%)
|
Aymé-Gripp syndrome
|
Downslanted palpebral fissures
Large fontanelles
Radioulnar synostosis
Tapered finger
Thin upper lip vermilion
Autosomal recessive inheritance
Sporadic
Fine-Lubinsky syndrome is characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies.
Orphanet:1272
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GTR:C0795941
|
368 (72.0%)
|
Pfeiffer syndrome
|
Brachydactyly
Broad thumb
Mandibular prognathia
Open mouth
Short philtrum
Autosomal dominant inheritance
Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.
Orphanet:710
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KEGG:H00458
KEGG:H01756
Gene Reviews
GTR:C0220658
GTR:C0265303
GTR:C2931888
|
369 (71.9%)
|
Angelman syndrome
|
Brachydactyly
Mandibular prognathia
Unilateral cleft lip
Wide mouth
Autosomal dominant inheritance
Sporadic
A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.
Orphanet:72
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KEGG:H01732
Gene Reviews
GTR:C0162635
|
370 (71.9%)
|
RIN2 syndrome
|
Brachydactyly
Downslanted palpebral fissures
Long philtrum
Macrocephaly
Autosomal recessive inheritance
RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.
Orphanet:217335
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KEGG:H00906
GTR:C2751321
|
371 (71.8%)
|
Harlequin ichthyosis
|
Eclabion
Ectropion
Short foot
Autosomal recessive inheritance
Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.
Orphanet:457
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KEGG:H00733
Gene Reviews
GTR:C0239849
GTR:C0598226
|
371 (71.8%)
|
Multiple endocrine neoplasia type 2
|
Abnormal eyelid morphology
Patellar aplasia
Thick lower lip vermilion
Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia (see this term), a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC) (see these terms).
Orphanet:653
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GTR:C0025268
|
373 (71.8%)
|
Autosomal dominant popliteal pterygium syndrome
|
Ankyloblepharon
Micrognathia
Non-midline cleft lip
Split hand
Autosomal dominant inheritance
A rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
Orphanet:1300
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KEGG:H00611
Gene Reviews
|
373 (71.8%)
|
Zlotogora-Ogur syndrome
|
Cleft upper lip
Downslanted palpebral fissures
Micrognathia
Palmoplantar hyperkeratosis
Autosomal recessive inheritance
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.
Orphanet:3253
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GTR:C2931488
|
375 (71.8%)
|
Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
|
Clinodactyly of the 5th finger
Long philtrum
Microretrognathia
Telecanthus
Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism.
Orphanet:228396
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|
375 (71.8%)
|
Toluene embryopathy
|
Epicanthus
Micrognathia
Smooth philtrum
Tapered finger
A neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome.
Orphanet:1920
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|
375 (71.8%)
|
17q21.31 microduplication syndrome
|
Clinodactyly of the 5th finger
Epicanthus
Micrognathia
Short philtrum
The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.
Orphanet:217340
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|
375 (71.8%)
|
Non-distal trisomy 13q
|
Abnormal eyelash morphology
Long philtrum
Micrognathia
Postaxial hand polydactyly
Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.
Orphanet:1702
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|
375 (71.8%)
|
Craniofacial dyssynostosis
|
Clinodactyly of the 5th finger
Epicanthus
Micrognathia
Short philtrum
Autosomal recessive inheritance
Sporadic
Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I (see this term), venous anomalies of skull and hydrocephalus.
Orphanet:1516
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GTR:C1857511
|
375 (71.8%)
|
Flat face-microstomia-ear anomaly syndrome
|
Camptodactyly of finger
Long philtrum
Micrognathia
Telecanthus
Autosomal dominant inheritance
Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994.
Orphanet:1968
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GTR:C1866962
|
375 (71.8%)
|
Fallot complex-intellectual disability-growth delay syndrome
|
Clubbing of fingers
Downslanted palpebral fissures
Micrognathia
Thin upper lip vermilion
Autosomal recessive inheritance
Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.
Orphanet:3304
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GTR:C1832735
|
375 (71.8%)
|
Ring chromosome 10 syndrome
|
Downslanted palpebral fissures
Long philtrum
Micrognathia
Tapered finger
An autosomal anomaly characterized by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases.
Orphanet:1438
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GTR:C2931727
GTR:C0265438
|
375 (71.8%)
|
Miller-Dieker syndrome
|
Abnormality of upper lip
Clinodactyly of the 5th finger
Epicanthus
Micrognathia
Autosomal dominant inheritance
Contiguous gene syndrome
Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.
Orphanet:531
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GTR:C0265219
|
375 (71.8%)
|
Cardiocranial syndrome, Pfeiffer type
|
Broad philtrum
Downslanted palpebral fissures
Micrognathia
Slender finger
Autosomal dominant inheritance
Autosomal recessive inheritance
Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit).
Orphanet:2872
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|
375 (71.8%)
|
6q25 microdeletion syndrome
|
Clinodactyly of the 5th finger
Epicanthus
Long philtrum
Micrognathia
6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.
Orphanet:251056
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|
375 (71.8%)
|
Global developmental delay-osteopenia-ectodermal defect syndrome
|
Clinodactyly of the 2nd finger
Epicanthus
Long philtrum
Micrognathia
This syndrome is characterised by the association of global developmental delay, osteopenia and skin anomalies.
Orphanet:73223
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|
375 (71.8%)
|
Müllerian derivatives-lymphangiectasia-polydactyly syndrome
|
Downslanted palpebral fissures
Micrognathia
Postaxial hand polydactyly
Thin upper lip vermilion
Autosomal recessive inheritance
Müllerian derivatives-lymphangiectasia-polydactyly syndrome is characterised by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure.
Orphanet:1655
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|
375 (71.8%)
|
Oculocerebrofacial syndrome, Kaufman type
|
Abnormality of upper lip
Arachnodactyly
Epicanthus
Micrognathia
Autosomal recessive inheritance
Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.
Orphanet:2707
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GTR:C1855663
|
375 (71.8%)
|
Distal monosomy 3p
|
Epicanthus
Long philtrum
Micrognathia
Postaxial hand polydactyly
Autosomal dominant inheritance
Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.
Orphanet:1620
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KEGG:H01795
|
375 (71.8%)
|
16q24.3 microdeletion syndrome
|
Micrognathia
Proximal placement of thumb
Smooth philtrum
Upslanted palpebral fissure
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.
Orphanet:261250
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|
375 (71.8%)
|
Lathosterolosis
|
Epicanthus
Long philtrum
Micrognathia
Postaxial hand polydactyly
Autosomal recessive inheritance
Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.
Orphanet:46059
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KEGG:H01281
GTR:C1846421
|
375 (71.8%)
|
Distal 22q11.2 microduplication syndrome
|
Epicanthus
Micrognathia
Smooth philtrum
Tapered finger
Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported.
Orphanet:261337
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|
375 (71.8%)
|
Baraitser-Winter cerebrofrontofacial syndrome
|
Duplication of thumb phalanx
Epicanthus
Long philtrum
Micrognathia
Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients.
Orphanet:2995
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GTR:C1855722
|
375 (71.8%)
|
Trisomy 17p
|
Downslanted palpebral fissures
Micrognathia
Smooth philtrum
Tapered finger
Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.
Orphanet:261290
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GTR:C0795865
|
375 (71.8%)
|
Monosomy 9p
|
Epicanthus
Long philtrum
Micrognathia
Postaxial hand polydactyly
Autosomal dominant inheritance
Sporadic
Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.
Orphanet:261112
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GTR:C0265425
GTR:C0795830
|
375 (71.8%)
|
FG syndrome type 1
|
Abnormal thumb morphology
Downslanted palpebral fissures
Long philtrum
Micrognathia
X-linked recessive inheritance
Orphanet:93932
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KEGG:H00894
Gene Reviews
GTR:C0220769
|
375 (71.8%)
|
7q11.23 microduplication syndrome
|
Long eyelashes
Long fingers
Micrognathia
Thin upper lip vermilion
Autosomal dominant inheritance
7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short philtrum, thin upper lip and facial asymmetry). Hypotonia, developmental coordination disorders, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.
Orphanet:96121
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GTR:C1857844
|
375 (71.8%)
|
22q11.2 deletion syndrome
|
Epicanthus
Hand polydactyly
Micrognathia
Short philtrum
22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.
Orphanet:567
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GTR:C0012236
GTR:C0220704
GTR:C0795907
GTR:C2936346
GTR:C3266101
GTR:C0431406
|
399 (71.7%)
|
Ossification anomalies-psychomotor developmental delay syndrome
|
Micrognathia
Shallow orbits
Short 5th finger
Triangular face
Ossification anomalies-psychomotor developmental delay syndrome is characterised by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodelling during ossification.
Orphanet:73230
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|
400 (71.7%)
|
Acrorenal syndrome
|
Abnormality of the ulna
Aplasia/Hypoplasia of the radius
Cleft palate
Micrognathia
Autosomal recessive inheritance
A spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.
Orphanet:971
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GTR:C3495490
GTR:C0796290
|
401 (71.6%)
|
Bannayan-Riley-Ruvalcaba syndrome
|
Broad thumb
Long philtrum
Micrognathia
Narrow palate
Autosomal dominant inheritance
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.
Orphanet:109
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GTR:C0265326
|
402 (71.6%)
|
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
|
Brachydactyly
Cleft palate
Glossoptosis
Micrognathia
Short femur
Orphanet:440354
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|
403 (71.5%)
|
Lymphedema-distichiasis syndrome
|
Cleft upper lip
Ectropion
Micrognathia
Autosomal dominant inheritance
Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.
Orphanet:33001
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KEGG:H02167
Gene Reviews
GTR:C0265345
|
403 (71.5%)
|
Emanuel syndrome
|
Micrognathia
Submucous cleft lip
Upslanted palpebral fissure
Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.
Orphanet:96170
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KEGG:H01790
Gene Reviews
GTR:C1836929
|
405 (71.4%)
|
Monosomy 5p
|
Epicanthus
High palate
Microretrognathia
Small hand
Sporadic
Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.
Orphanet:281
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KEGG:H00764
GTR:C0010314
GTR:C2931860
|
405 (71.4%)
|
Hallermann-Streiff syndrome
|
Abnormality of the tongue
Micrognathia
Small hand
Telecanthus
Sporadic
Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.
Orphanet:2108
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GTR:C0018522
|
405 (71.4%)
|
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
|
Epicanthus
High palate
Micrognathia
Small hand
Autosomal dominant inheritance
A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and, occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis.
Orphanet:300570
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KEGG:H01881
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408 (71.4%)
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Atelosteogenesis type III
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Hand clenching
High palate
Micrognathia
Short tubular bones of the hand
Autosomal dominant inheritance
A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
Orphanet:56305
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Gene Reviews
GTR:C3668942
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409 (71.4%)
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Velo-facial-skeletal syndrome
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Abnormality of the dentition
Epicanthus
Large hands
Short palm
Autosomal dominant inheritance
A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.
Orphanet:3424
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GTR:C1833380
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409 (71.4%)
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Autosomal recessive spastic paraplegia type 20
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Abnormal hand morphology
Epicanthus
Overbite
Small hand
Autosomal recessive inheritance
Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.
Orphanet:101000
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GTR:C0393559
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411 (71.4%)
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Eiken syndrome
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Absence of the sacrum
Broad palm
Fibular hypoplasia
Short palm
Autosomal recessive inheritance
A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slighly elevated. Oligodontia has been rarely associated.
Orphanet:79106
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KEGG:H00495
GTR:C1838779
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412 (71.3%)
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49,XYYYY syndrome
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Coarse facial features
Micrognathia
Radioulnar synostosis
Short 5th finger
49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.
Orphanet:99330
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413 (71.3%)
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Recombinant 8 syndrome
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Abnormality of the dentition
Cleft upper lip
Micrognathia
Patellar aplasia
Autosomal dominant inheritance
Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.
Orphanet:96167
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GTR:C0795822
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414 (71.3%)
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Imperforate oropharynx-costovertebral anomalies syndrome
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Abnormality of the philtrum
Arachnodactyly
Epicanthus
Missing ribs
Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.
Orphanet:2759
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415 (71.2%)
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Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
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Short distal phalanx of finger
Telecanthus
Autosomal dominant inheritance
Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988.
Orphanet:1547
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GTR:C1852454
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415 (71.2%)
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Dahlberg-Borer-Newcomer syndrome
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Short distal phalanx of finger
Telecanthus
Wide nasal bridge
Autosomal recessive inheritance
X-linked recessive inheritance
Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities.
Orphanet:1563
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GTR:C1855477
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417 (71.2%)
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Branchiogenic deafness syndrome
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Cleft palate
Short distal phalanx of finger
Autosomal dominant inheritance
Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.
Orphanet:50815
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GTR:C1836673
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417 (71.2%)
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Early infantile epileptic encephalopathy
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Cleft palate
Short finger
A severe form of age-related epileptic encephalopathies characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle, and that can occur hundreds of times per day, leading to psychomotor impairment and death.
Orphanet:1934
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GTR:C0393706
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419 (71.2%)
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Nasopalpebral lipoma-coloboma syndrome
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Broad forehead
Clinodactyly of the 5th finger
Eyelid coloboma
Hypoplasia of the maxilla
Autosomal dominant inheritance
Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.
Orphanet:2399
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GTR:C1868660
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420 (71.2%)
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Verloove Vanhorick-Brubakk syndrome
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Cleft palate
Limb undergrowth
Micrognathia
Non-midline cleft lip
Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.
Orphanet:3429
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GTR:C1859082
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