An extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.
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Treacher-Collins syndrome
MONDO:0002457
branchio-oto-renal syndrome
MONDO:0007029
acrorenal syndrome
MONDO:0007059
Townes-Brocks syndrome
MONDO:0007142
arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
MONDO:0007158
arthrogryposis-like hand anomaly-sensorineural deafness syndrome
MONDO:0007159