Conradi-Hünermann disease
chon·dro·dys·pla·si·a cal·ci·f'i·cans con·gen·'i·ta
[MIM*118650]autosomal dominant inheritance characterized by asymmetric calcifications and dysplastic skeletal changes, less frequent occurrence of congenital cataracts and ichthyosis compared with other forms, and relatively good prognosis.
Synonym(s): Conradi disease, Conradi-Hünermann disease
Farlex Partner Medical Dictionary © Farlex 2012
Conradi-Hünermann disease
(1) Chondrodysplasia punctata (type I), OMIM:118650.(2) X-linked dominant chondrodysplasia punctata (type II), OMIM:302960.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
Conradi,
Erich, German physician, 1882–.Conradi disease - congenital shortening of the humerus and femur, with stippled epiphyses, high-arched palate, cataracts, erythroderma in the newborn, and scaling followed by follicular atrophoderma. Synonym(s): chondrodystrophia congenita punctata; Conradi-Hunermann disease; Conradi syndrome
Conradi syndrome - Synonym(s): Conradi disease
Conradi-Hunermann disease - Synonym(s): Conradi disease
Hunermann,
Carl, German pediatrician, 1900-1943.Conradi-Hunermann disease - Synonym(s): Conradi disease
Medical Eponyms © Farlex 2012