1 (95.9%)
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Postaxial acrofacial dysostosis
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Eyelid coloboma
Hypoplasia of the radius
Hypoplasia of the ulna
Micrognathia
Non-midline cleft lip
Autosomal recessive inheritance
Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.
Orphanet:246
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GTR:C0265257
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2 (94.2%)
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Nager syndrome
|
Aplasia/Hypoplasia of the thumb
Eyelid coloboma
Hypoplasia of the radius
Microretrognathia
Non-midline cleft lip
Autosomal dominant inheritance
A congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.
Orphanet:245
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KEGG:H01376
GTR:C0265245
|
3 (90.5%)
|
Alagille syndrome
|
Downslanted palpebral fissures
Hypoplasia of the ulna
Micrognathia
Short distal phalanx of finger
Short philtrum
A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.
Orphanet:52
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GTR:C0085280
|
4 (89.8%)
|
Syndactyly-telecanthus-anogenital and renal malformations syndrome
|
Eyelid coloboma
Hypoplasia of the radius
Thin upper lip vermilion
X-linked dominant inheritance
This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.
Orphanet:140952
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KEGG:H01156
GTR:C2678045
|
5 (89.5%)
|
Acrofrontofacionasal dysostosis
|
Broad thumb
Eyelid coloboma
Micromelia
Non-midline cleft lip
Short distal phalanx of finger
Autosomal recessive inheritance
A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.
Orphanet:1784
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GTR:C1860118
|
6 (88.3%)
|
Cenani-Lenz syndrome
|
Downslanted palpebral fissures
Foot oligodactyly
Hypoplasia of the ulna
Short philtrum
Short thumb
Autosomal recessive inheritance
Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.
Orphanet:3258
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KEGG:H00853
GTR:C1859309
|
7 (87.9%)
|
Distal trisomy 5q
|
Absent thumb
Downslanted palpebral fissures
Hypoplasia of the ulna
Long philtrum
Micrognathia
Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).
Orphanet:96097
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|
8 (87.8%)
|
Cleft lip/palate
|
Cryptophthalmos
Micrognathia
Overlapping fingers
Short long bone
Unilateral cleft lip
Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.
Orphanet:199306
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GTR:C0158646
|
9 (87.6%)
|
Bartsocas-Papas syndrome
|
Absent thumb
Eyelid coloboma
Median cleft lip
Micrognathia
Autosomal recessive inheritance
Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.
Orphanet:1234
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KEGG:H01931
GTR:C1849718
|
9 (87.6%)
|
Goldenhar syndrome
|
Aplasia/Hypoplasia of the thumb
Micrognathia
Non-midline cleft lip
Upper eyelid coloboma
Autosomal dominant inheritance
Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies.
Orphanet:374
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GTR:C0265240
GTR:C0432130
|