Lethal Larsen-like syndrome

Orpha code: 2371OMIM code: 245650

Definition

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
Classification

Malformation syndrome

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

No additional description.

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