Distal arthrogryposis type 10

Orpha code: 251515OMIM code: 187370

Definition

A rare, genetic, distal arthrogryposis syndrome characterized by plantar flexion contractures, typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints. No ocular or neurological abnormalities are associated and serum creatine phosphokinase levels are normal.

Disease data
Classification

Malformation syndrome

Synonyms
DA10
DA10
Krótkie ścięgno Achillesa
Podeszwowy przykurcz
Plantar flexion contracture
Short Achilles tendon
Short tendo calcaneus
ORPHA code
251515
OMIM code
187370
ICD10 code
Q68.8
ICD11 code
-

No additional description.

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