Orphanet: Autosomal dominant multiple pterygium syndrome

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Autosomal dominant multiple pterygium syndrome

Disease definition

A rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.

ORPHA:65743

Classification level: Disorder

Synonym(s):
- Distal arthrogryposis type 8
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Childhood
ICD-10: Q79.8
OMIM: 178110
UMLS: C1867440
MeSH: -
GARD: -
MedDRA: -

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Autosomal dominant multiple pterygium syndrome

ORPHA:65743

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