Conradi-Hunermann syndrome

Conradi-Hünermann syndrome

 [kon-rah´de hu´ner-mahn]
the autosomal dominant form of chondrodysplasia punctata.

Conradi-Hünermann syndrome

(kon-rah'dē hin'ĕr-mahn),
one of the syndromes of chondrodysplasia punctata (q.v.), autosomal dominant, with variable skin keratinization disorders and facial, cardiac, optic, and central nervous system abnormalities; epiphyseal stippling is also present.

Con·ra·di-Hü·ner·mann syn·drome

(kon-rah'dē hyū'nĕr-mahn sin'drōm)
One of the syndromes of chondrodysplasia punctata, autosomal dominant, with variable skin keratinization disorders and facial, cardiac, optic, and central nervous system abnormalities; epiphyseal stippling is also present.
References in periodicals archive ?
According to the National Organization for Rare Disorders, Conradi-Hunermann syndrome is a rare genetic disorder characterized by skeletal malformations, skin abnormalities, cataracts and short stature.