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Autosomal recessive multiple pterygium syndrome

MONDO:0009926

A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant.

Also known as: EVMPS, Escobar syndrome, Escobar variant multiple pterygium syndrome, autosomal recessive multiple pterygium syndrome, autosomal recessive non-lethal multiple pterygium syndrome, multiple pterygium syndrome, autosomal recessive, multiple pterygium syndrome, multiple pterygium syndrome Escobar type

1 clinical trial for this condition and its sub-types, 0 tagged with Autosomal recessive multiple pterygium syndrome itself.

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Part of

↑ Syndromic disease (7158) ↑ Autosomal recessive disease (999) ↑ Multiple congenital anomalies/dysmorphic syndrome without intellectual disability (163) ↑ Multiple pterygium syndrome (1)

Sub-types of Autosomal recessive multiple pterygium syndrome

Contractures, pterygia, and variable skeletal fusions syndrome 1B 0 trials

Including sub-types (1) Tagged with Autosomal recessive multiple pterygium syndrome (0)

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