Hair defect-photosensitivity-intellectual disability syndrome
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| Hair defeft-photosensitivity-intellectual disability syndrome | |
|---|---|
| Specialty | Medical genetics |
| Symptoms | fragile, stubby hair, photosensitive eyebrows and eyelashes and intellectual disabilities |
Hair defect-photosensitivity-intellectual disability, also known as Calderon-Gonzalez-Cantu syndrome, is a rare syndrome characterized by fragile hair, photosensitive eyebrows and eyelashes and intellectual disability which does not progress, and no metabolic aberration. Only three sisters that were born to consanguineous parents have been described in medical literature.[1][2]
References
- ^ "Hair defect-photosensitivity-intellectual disability syndrome - About the Disease - Genetic and Rare Diseases Information Center".
- ^ "Hair defect-photosensitivity-intellectual disability syndrome (Concept Id: C1856241) - MedGen - NCBI".
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