Marden-Walker syndrome

Definition

A rare developmental defect during embryogenesis characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

Disease data

Classification

Malformation syndrome

ORPHA code

2461

OMIM code

248700

ICD10 code

Q87.0

ICD11 code

LD26.41

*Soruce