Diaphragmatic defect-limb deficiency-skull defect syndrome

Orpha code: 2141OMIM code: 601163

Definition

Diaphragmatic defect-limb deficiency-skull defect syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations.

Disease data
Classification

Malformation syndrome

Synonyms
Froster-Huch syndrome
Zespół Frostera i Hucha
ORPHA code
2141
OMIM code
601163
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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