Hair defect-photosensitivity-intellectual disability syndrome

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Hair defect-photosensitivity-intellectual disability syndrome
Synonyms Trichothiodystrophy
Pronounce N/A
Specialty N/A
Symptoms Brittle hair, photosensitivity, intellectual disability
Complications N/A
Onset Infancy
Duration Lifelong
Types N/A
Causes Genetic mutation
Risks Increased risk of skin cancer
Diagnosis Genetic testing, clinical evaluation
Differential diagnosis N/A
Prevention N/A
Treatment Symptomatic treatment, protective clothing
Medication N/A
Prognosis N/A
Frequency Rare
Deaths N/A


Alternate names

Calderon Gonzalez-Cantu syndrome; Calderón-González-Cantu syndrome

Definition

Calderon-Gonzalez-Cantu syndrome is characterized by the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and non-progressive intellectual deficit without a demonstrable metabolic aberration.

NIH genetic and rare disease info

Hair defect-photosensitivity-intellectual disability syndrome is a rare disease.


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Additional resources

Hair defect-photosensitivity-intellectual disability syndrome

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