Distal arthrogrypose type 3
Engelsk navn: Gordon syndrome
Engelske synonym: Camptodactyly-cleft palate-clubfoot syndrome,Distal arthrogryposis type 3,Distal arthrogryposis type IIA
Definisjon
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.
Fra Orphanet
ORPHA: 376
Klassifiseringsnivå: Disorder
ICD-10: Q68.8
