Conradi-H√ľnermann

Other names: chondrodysplasia punctata with ichthyosis; Happle syndrome

 

OMIM: 302960

Inheritance: X-linked dominant

Incidence: rare; lethal in males

Key findings:

Associated findings:

Age at first appearance: birth

Long-term course: erythroderma and generalized scaling at birth resolves within several months; whorled, follicular scale often progressively improves

Diagnostic tests: analysis of cellular DNA

Abnormal gene: sterol isomerase

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