Autosomal recessive multiple pterygium syndrome
MONDO:0009926A 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.
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Broader categories
Disease
(717)
Hereditary disease
(188)
Syndromic disease
(25)
Human disease
(15)
Developmental defect during embryogenesis
(8)
Autosomal recessive disease
(4)
Congenital limb malformation
(3)
Disease of genetic or genomic mechanism
(2)
Multiple congenital anomalies/dysmorphic syndrome
(1)
Arthrogryposis syndrome
(0)