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What is Conradi-Hünermann Syndrome?

Conradi-Hünermann Syndrome is a rare genetic disorder characterized by skeletal malformations, skin abnormalities, cataracts and short stature. The specific symptoms and severity of the disorder may vary greatly from one individual to another. Conradi-Hünermann syndrome is classified as a form of chondrodysplasia punctata, a group of disorders characterized by the formation of small, hardened spots of calcium on the "growing portion" or heads of the long bones (stippled epiphyses) or inside other areas of cartilage in the body.

As more information for our “Patient Perspective” section of  Conradi-Hünermann Syndrome becomes available, we will provide updates. Please refer to a Clinician’s Perspective for Conradi-Hünermann Syndrome.

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Other Names: chondrodysplasia punctata with ichthyosis; Happle syndrome
OMIM: 302960
Inheritance: X-linked dominant
Incidence: rare; lethal in males
Key Findings:
  • skin: follicular depressions with mild scale or increased pigmentation in a linear or whorled pattern
  • hair: various hair shaft abnormalities and pattered hair loss (common)
Associated Findings:
  • skeletal: asymptomatic bone densities on x-ray that resolve with time; limb shortening, extra digits and hip dysplasia (common)
  • eyes: early cataracts (common)
Age at First Appearance: birth
Longterm 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

Additional Resources:

This information is provided as a service to patients and parents of patients who have ichthyosis. It is not intended to supplement appropriate medical care, but instead to complement that care with guidance in practical issues facing patients and parents. Neither FIRST, its Board of Directors, Medical & Scientific Advisory Board, Board of Medical Editors nor Foundation staff and officials endorse any treatments or products reported here. All issues pertaining to the care of patients with ichthyosis should be discussed with a dermatologist experienced in the treatment of their skin disorder.

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