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

Learn more about FIRST's Regional Support Network -  connecting affected individuals and families with each other.

Clinicians seeking diagnosis should visit FIRST's TeleIchthyosis site to submit a case to experts in ichthyosis

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