Marden-Walker syndrome

Orpha code: 2461OMIM code: 248700

Definicja

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
Klasyfikacja

Malformation syndrome

Kod ORPHA
2461
Kod OMIM
248700
Kod ICD10
Q87.0
Kod ICD11
LD26.41

No additional description.

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