Medicine:Autosomal dominant multiple pterygium syndrome
From HandWiki
| Autosomal dominant multiple pterygium syndrome | |
|---|---|
| Other names | Distal arthrogryposis type 8[1] |
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| Autosomal dominant multiple pterygium syndrome is inherited in an autosomal dominant fashion. | |
| Specialty | Dermatology |
Autosomal dominant multiple pterygium syndrome is a cutaneous condition inherited in an autosomal dominant fashion.[2]
Presentation
The key features of autosomal dominant multiple pterygium syndrome are proximal and distal joint contractures; pterygia (of the neck, axilla, elbows, or knees); variable fusion of the vertebrae, carpal, and tarsal bones; and short stature.[3]
Society
Musician Patrick Henry Hughes has a type of this condition.[4]
See also
- Arthrogryposis
- Escobar syndrome
- Popliteal pterygium syndrome
- List of cutaneous conditions
References
- ↑ "Orphanet: Autosomal dominant multiple pterygium syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65743.
- ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
- ↑ "CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A; CPSFS1A". 28 May 2025. https://omim.org/entry/178110.
- ↑ "Louisville Magazine". https://www.louisville.com/content/tickets-i-am-potential-patrick-henry-hughes-story-sale-today-.
External links
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