11
(85.5%)

SC phocomelia syndrome

Aplasia of the ulna Cleft upper lip Micrognathia Short thumb

Autosomal recessive inheritance

12
(85.1%)

Baller-Gerold syndrome

Aplasia/Hypoplasia of the thumb Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia

Autosomal recessive inheritance

Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

13
(84.7%)

MOMO syndrome

Eyelid coloboma Large hands Short sternum Smooth philtrum

Autosomal dominant inheritance

MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.

14
(84.6%)

microphthalmia with cyst, bilateral facial clefts, and limb anomalies

Broad proximal phalanges of the hand Cleft upper lip Eyelid coloboma Short foot

Sporadic

15
(84.2%)

ulnar hypoplasia-split foot syndrome

Hypoplasia of the ulna Short finger Syndactyly

X-linked recessive inheritance

Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.

15
(84.2%)

acromesomelic dysplasia, Hunter-Thompson type

Hypoplasia of the ulna Short foot Shortening of all middle phalanges of the fingers Single transverse palmar crease

Autosomal recessive inheritance

Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.

15
(84.2%)

acromesomelic dysplasia, Demirhan type

Hypoplasia of the ulna Hypoplasia of the uterus Short finger Short toe

Autosomal recessive inheritance

18
(84.0%)

Wolf-Hirschhorn syndrome

Cleft upper lip Epicanthus Micrognathia Radioulnar synostosis Short thumb

Autosomal dominant inheritance Sporadic

Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.

19
(83.9%)

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

Eyelid coloboma Small hand Thin upper lip vermilion

Autosomal dominant inheritance

An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13.

20
(83.9%)

congenital disorder of glycosylation type 1E

Downslanted palpebral fissures Micrognathia Short palm Smooth philtrum Upper limb undergrowth

Autosomal recessive inheritance

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.