Search for a rare disease
Other search option(s)
Autosomal dominant multiple pterygium syndrome
Disease definition
Autosomal dominant multiple pterygium syndrome is 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
- 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: -
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.