Autosomal dominant multiple pterygium syndrome is a cutaneous condition inherited in an
autosomal dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...
fashion.
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
Short stature refers to a height of a human which is below typical. Whether a person is considered short depends on the context. Because of the lack of preciseness, there is often disagreement about the degree of shortness that should be called ...
.
Society
Musician
Patrick Henry Hughes has a type of this condition.
See also
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Arthrogryposis Arthrogryposis (AMC) describes congenital joint contracture in two or more areas of the body. It derives its name from Greek, literally meaning 'curving of joints' (', 'joint'; ', late Latin form of late Greek ', 'hooking').
Children born with one ...
Escobar syndrome*
Popliteal pterygium syndrome
Popliteal pterygium syndrome (PPS) is a rare inherited genetic disorder characterized by distinctive craniofacial, musculoskeletal and genitorourinary symptoms. It is primarily caused by a mutation to the ''IRF6'' gene and follows an autosomal dom ...
*
List of cutaneous conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the Human body, body and composed of Human skin, skin, hair, Nail (anatomy), nails, and related muscle and glands. The major function o ...
References
External links
Genodermatoses
Rare syndromes
{{Genodermatoses-stub