Mandibuloacral dysplasia (MAD) is a rare
autosomal recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
syndrome characterized by
mandibular hypoplasia
Micrognathism is a condition where the jaw is undersized. It is also sometimes called mandibular hypoplasia. It is common in infants, but is usually self-corrected during growth, due to the jaws' increasing in size. It may be a cause of abnorma ...
, delayed cranial suture closure, dysplastic clavicles, abbreviated and club-shaped terminal phalanges,
acroosteolysis
Acroosteolysis is resorption of the distal bony phalanges. Acroosteolysis has two patterns of resorption in adults: diffuse and bandlike.
The diffuse pattern of resorption has a widely diverse differential diagnosis which includes: pyknod ...
, atrophy of the skin of the hands and feet, and typical facial changes.
[James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. .]
Types
See also
*
Hereditary sclerosing poikiloderma
Hereditary sclerosing poikiloderma is an autosomal dominant conditions with skin changes consisting of generalized poikiloderma appearing in childhood.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical ...
*
Skin lesion
A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, nails, and related muscle and glands. The major function of this s ...
References
External links
Genodermatoses
{{Genodermatoses-stub