Conradi-Hünermann: A Patient's Perspective: A Clinical Perspective
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: |
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| Associated Findings: |
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| 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:
- Clinicians seeking to confirm a diagnosis should visit FIRST's TeleIchthyosis site to submit a case to experts in ichthyosis. »
- Learn more about FIRST's Support Services - connecting affected individuals and families with each other. Or call the FIRST office at 800-545-3286. »
- Information about current clinical trials and research studies can be found here.
