Orphanet: Autosomal recessive multiple pterygium syndrome

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Autosomal recessive multiple pterygium syndrome

Disease 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.

ORPHA:2990

Classification level: Disorder

Synonym(s):
- Autosomal recessive non-lethal multiple pterygium syndrome
- EVMPS
- Escobar syndrome
- Escobar variant multiple pterygium syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Antenatal, Infancy, Neonatal
ICD-10: Q79.8
ICD-11: LD26.40
OMIM: 265000 618469
UMLS: -
MeSH: -
GARD: 7111
MedDRA: -

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Autosomal recessive multiple pterygium syndrome

ORPHA:2990

A summary on this disease is available in Español (2021) Français (2021) Nederlands (2021)

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