Autosomal dominant multiple pterygium syndrome

Autosomal dominant multiple pterygium syndrome
Other names	Distal arthrogryposis type 8 [1]
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

• Popliteal pterygium syndrome
• List of cutaneous conditions
• Datagenno - Escobar Syndrome

References

1. "Orphanet: Autosomal dominant multiple pterygium syndrome". www.orpha.net. Retrieved 28 September 2019.
2. Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN   978-1-4160-2999-1.
3. "CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A; CPSFS1A". OMIM. 28 May 2025. Archived from the original on 28 May 2025. Retrieved 28 May 2025.
4. "Louisville Magazine". Archived from the original on 2019-04-25. Retrieved 2019-02-05.