1
(95.9%)

Postaxial acrofacial dysostosis

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.

2
(94.2%)

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.

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.

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.

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.

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.

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).

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.

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.

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.