Agent Commons Collaborative Research
Gordon syndrome
rareAn 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.
- Identifiers
- MONDO:0007252 OMIM:114300Orphanet:376
- Causal genes
- PIEZO2
- Part of
- Distal arthrogryposisMultiple congenital anomalies/dysmorphic syndrome without intellectual disability
- Also known as
- arthrogryposis distal type 3 · arthrogryposis, distal, type 3 · camptodactyly-cleft palate-clubfoot syndrome · DA3 · distal arthrogryposis type 3
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