11 (85.5%)
|
SC phocomelia syndrome
|
Aplasia of the ulna
Cleft upper lip
Micrognathia
Short thumb
Autosomal recessive inheritance
OMIM:269000
Find images (Google)
Monarch
Gene Reviews
|
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).
OMIM:218600
Find images (Google)
Monarch
KEGG:H01993
Gene Reviews
GTR:C0265308
|
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.
OMIM:157980
Find images (Google)
Monarch
GTR:C1834759
|
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
OMIM:607597
Find images (Google)
Monarch
GTR:C1843492
|
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.
OMIM:314360
Find images (Google)
Monarch
GTR:C1839123
|
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.
OMIM:201250
Find images (Google)
Monarch
|
15 (84.2%)
|
acromesomelic dysplasia, Demirhan type
|
Hypoplasia of the ulna
Hypoplasia of the uterus
Short finger
Short toe
Autosomal recessive inheritance
OMIM:609441
Find images (Google)
Monarch
KEGG:H00468
|
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.
OMIM:194190
Find images (Google)
Monarch
KEGG:H01773
GTR:C0796117
GTR:C0796202
GTR:C1956097
GTR:CN207113
|
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.
OMIM:615873
Find images (Google)
Monarch
Gene Reviews
GTR:C4014538
|
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.
OMIM:608799
Find images (Google)
Monarch
|