39
(82.2%)

Yunis-Varon syndrome

Aplasia of the 1st metacarpal Micrognathia Short middle phalanx of finger Short upper lip Upslanted palpebral fissure

Autosomal recessive inheritance

42
(82.1%)

Polysyndactyly

Epicanthus Fibular hypoplasia Lip pit Micrognathia Short thumb

Autosomal dominant inheritance

Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.

43
(82.1%)

Gorlin-Chaudhry-Moss syndrome

Abnormality of the dentition Hypoplasia of the maxilla Short distal phalanx of finger Upper eyelid coloboma

Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.

44
(82.1%)

IVIC syndrome

Aplastic clavicle Hypoplasia of the radius Rectovaginal fistula Short thumb

Autosomal dominant inheritance

IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.

45
(82.0%)

Otomandibular syndrome

Cleft lip Hemiatrophy Micrognathia Upper eyelid coloboma

A rare, otomandibular dysplasia characterized by asymmetric, predominantly unilateral hypoplasia of facial structures, typically involving the external ear, mandible, and ipsilateral facial soft tissues. It manifests with mild to severe facial asymmetry, micrognathia, microtia, slanted lip commissure and occlusal canting.

46
(81.9%)

Progressive non-infectious anterior vertebral fusion

Downslanted palpebral fissures Large hands Micrognathia Proximal radio-ulnar synostosis Short philtrum

Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features.

47
(81.8%)

Wiedemann-Rautenstrauch syndrome

Large hands Micrognathia Short femur Thin upper lip vermilion Upslanted palpebral fissure

Autosomal recessive inheritance

Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.

48
(81.8%)

Fraser syndrome

Brachydactyly Chronic sinusitis Cleft upper lip Cryptophthalmos

A rare clinical entity including as main characteristics cryptophthalmos and syndactyly.

49
(81.7%)

Oculodentodigital dysplasia

Brachydactyly Cryptophthalmos Median cleft lip Micrognathia Short hallux

Autosomal dominant inheritance

Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.

50
(81.6%)

Tessier number 7 facial cleft

Ablepharon Microretrognathia Overlapping fingers Smooth philtrum