1
(100.0%)

postaxial acrofacial dysostosis

Cleft upper lip Eyelid coloboma Hypoplasia of the ulna Micrognathia Short thumb

Autosomal recessive inheritance

Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis 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 acrofacial dysostosis

Aplasia/Hypoplasia of the thumb Cleft upper lip Hypoplasia of the radius Lower eyelid coloboma Micrognathia

Autosomal dominant inheritance

Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.

3
(91.3%)

CHARGE syndrome

Cleft upper lip Downslanted palpebral fissures Hypoplasia of the ulna Micrognathia Short thumb

Autosomal dominant inheritance Sporadic

CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).

4
(88.1%)

Diamond-Blackfan anemia 1

Cleft upper lip Downslanted palpebral fissures Hypoplasia of the radius Micrognathia Short thumb

Autosomal dominant inheritance

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene.

5
(87.9%)

brachyphalangy, polydactyly, and tibial aplasia/hypoplasia

Epicanthus Hand monodactyly Hypoplasia of the ulna Micrognathia U-Shaped upper lip vermilion

Autosomal dominant inheritance

6
(87.6%)

Roberts-SC phocomelia syndrome

Cleft upper lip Eyelid coloboma Hand oligodactyly Micrognathia

Autosomal recessive inheritance

A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities.

7
(87.1%)

Fraser syndrome 1

Aplasia/Hypoplasia of the sternum Aplasia/Hypoplasia of the thumb Cleft upper lip Upper eyelid coloboma

Autosomal recessive inheritance

8
(86.9%)

spondyloepiphyseal dysplasia with congenital joint dislocations

Hypoplasia of the ulna Long philtrum Short distal phalanx of finger Sparse and thin eyebrow

Autosomal recessive inheritance

CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.

9
(86.4%)

short ulna-dysmorphism-hypotonia-intellectual disability syndrome

Downslanted palpebral fissures Hypoplasia of the ulna Micrognathia Thin upper lip vermilion

Autosomal recessive inheritance

10
(85.5%)

Cornelia de Lange syndrome 1

Cleft upper lip Hand oligodactyly Hypoplasia of the radius Long eyelashes Micrognathia

Autosomal dominant inheritance Sporadic

Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene.