41 (81.6%)
|
cranioectodermal dysplasia 1
|
Epicanthus
Everted lower lip vermilion
Fibular hypoplasia
Short distal phalanx of finger
Short ribs
Autosomal recessive inheritance
Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene.
OMIM:218330
Find images (Google)
Monarch
KEGG:H00529
Gene Reviews
|
42 (81.5%)
|
acrofrontofacionasal dysostosis
|
Cleft upper lip
Long eyelashes
Mandibular prognathia
Short distal phalanx of finger
Short metacarpal
Autosomal recessive inheritance
Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.
OMIM:201180
Find images (Google)
Monarch
GTR:C1860118
|
43 (81.5%)
|
X-linked lethal multiple pterygium syndrome
|
Cleft upper lip
Epicanthus
Micrognathia
Short finger
X-linked inheritance
X-linked form of lethal multiple pterygium syndrome.
OMIM:312150
Find images (Google)
Monarch
GTR:C1839440
|
43 (81.5%)
|
Fryns syndrome
|
Blepharophimosis
Cleft upper lip
Microretrognathia
Short thumb
Autosomal recessive inheritance
Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.
OMIM:229850
Find images (Google)
Monarch
Gene Reviews
GTR:C0220730
|
43 (81.5%)
|
branchiooculofacial syndrome
|
Cleft upper lip
Micrognathia
Short thumb
Telecanthus
Autosomal dominant inheritance
Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.
OMIM:113620
Find images (Google)
Monarch
KEGG:H00817
Gene Reviews
|
46 (81.4%)
|
Pallister-W syndrome
|
Downslanted palpebral fissures
Hypoplasia of the ulna
Submucous cleft hard palate
X-linked inheritance
W syndrome is characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant.
OMIM:311450
Find images (Google)
Monarch
GTR:C0796110
|
47 (81.4%)
|
complex lethal osteochondrodysplasia
|
Fractured radius
Micrognathia
Short femur
Telecanthus
Unilateral cleft lip
Autosomal recessive inheritance
OMIM:616897
Find images (Google)
Monarch
KEGG:H02280
GTR:C4225162
|
48 (81.3%)
|
Weaver syndrome
|
Epicanthus
Large hands
Long philtrum
Short fourth metatarsal
Short ribs
Autosomal dominant inheritance
Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.
OMIM:277590
Find images (Google)
Monarch
KEGG:H01751
Gene Reviews
GTR:C0265210
GTR:CN036342
|
49 (81.0%)
|
Duane-radial ray syndrome
|
Epicanthus
Hypoplasia of the radius
Hypoplasia of the ulna
Short thumb
Autosomal dominant inheritance
A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disc coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.
OMIM:607323
Find images (Google)
Monarch
KEGG:H00634
Gene Reviews
|
49 (81.0%)
|
Alagille syndrome due to a JAG1 point mutation
|
Hypoplasia of the ulna
Short distal phalanx of finger
Triangular face
Upslanted palpebral fissure
Autosomal dominant inheritance
OMIM:118450
Find images (Google)
Monarch
KEGG:H00551
Gene Reviews
GTR:C1956125
GTR:CN202206
|