PHAVER syndrome

Orpha code: 2876OMIM code: 261575

Definition

A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects.

Disease data
Classification

Malformation syndrome

Synonyms
Powell-Chandra-Saal syndrome
Zespół Powella, Chandra i Saala
ORPHA code
2876
OMIM code
261575
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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