Gordon syndrome

Orpha code: 376OMIM code: 114300

Definition

Gordon syndrome, also known as distal arthrogryposis type 3, is 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.

Disease data
Classification

Malformation syndrome

Synonyms
Camptodactyly-cleft palate-clubfoot syndrome
Artrogrypoza dystalna typu 3
Artrogrypoza dystalna typu IIA
Kamptodaktylia - rozszczep podniebienia - stopa końsko-szpotawa
Distal arthrogryposis type 3
Distal arthrogryposis type IIA
ORPHA code
376
OMIM code
114300
ICD10 code
Q68.8
ICD11 code
LD26.4Y

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl