Lethal Larsen-like syndrome

Orpha code: 2371OMIM code: 245650

Definicja

A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
2371
Kod OMIM
245650
Kod ICD10
Q74.8
Kod ICD11
LD24.E

No additional description.

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