Preferred Label : Dermatoosteolysis, kirghizian type;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : Kirghizian dermatoosteolysis;
Description : In 5 sibs (2 male, 3 female) of a family living in Kirghiz of Soviet Central Asia,
Kozlova et al. (1983) described a disorder that began in infancy and ran its course
by age 11 years. The features were recurrent skin ulceration, arthralgia, fever, fistulous
osteolysis around joints, oligodontia, nail dystrophy, and keratitis with visual impairment
or blindness (in 3 of the 5). Affected hands and feet resembled those of acromegaly.
Fingers became clawed. Involvement of growth plates around the knees led to asymmetric
shortening with secondary scoliosis. *FIELD* RF 1. Kozlova, S. I.; Altshuler, B. A.;
Kravchenko, V. L.: Self-limited autosomal recessive syndrome of skin ulceration, arthroosteolysis
with pseudoacromegaly, keratitis, and oligodontia in a Kirghizian family. Am. J. Med.
Genet. 15: 205-210, 1983. *FIELD* CS Autosomal recessive;
Inheritance : Autosomal recessive;
Prefixed ID : 221810;
Origin ID : 221810;
UMLS CUI : C1857301;
Currated CISMeF NLP mapping
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)