Autosomal recessive multiple pterygium syndrome

Orpha code: 2990OMIM code: 265000

Definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital pterygia (webbing) mainly affecting the neck and large joints, arthrogryposis multiplex, short stature, and craniofacial dysmorphism (including ptosis, downslanting palpebral fissures, high-arched palate, and retrognathia). Additional manifestations are decreased movements, facial weakness, respiratory distress, vertebral anomalies, scoliosis, anomalies of the fingers, and cryptorchidism, among others. The disease is a non-lethal variant of multiple pterygium syndrome.

Disease data
Classification

Malformation syndrome

Synonyms
Autosomal recessive non-lethal multiple pterygium syndrome
Autosomalny recesywny nieletalny zespół mnogich płetwistości
EVMPS
Zespół Escobara
Zespół mnogich płetwistości wariant Escobara
EVMPS
Escobar syndrome
Escobar variant multiple pterygium syndrome
ORPHA code
2990
OMIM code
265000
ICD10 code
Q79.8
ICD11 code
LD26.40

No additional description.

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