Zespół Gordona

Kod Orpha: 376Kod OMIM: 114300

Definicja

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.

Dane
Klasyfikacja

Zespół wad wrodzonych

Synonimy
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
Kod ORPHA
376
Kod OMIM
114300
Kod ICD10
Q68.8
Kod ICD11
LD26.4Y

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