Sabinas brittle hair syndrome

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Sabinas brittle hair syndrome
Synonyms	Trichothiodystrophy Sabinas type
Pronounce	N/A
Specialty	N/A
Symptoms	Brittle hair, intellectual disability, short stature
Complications	N/A
Onset	Childhood
Duration	Lifelong
Types	N/A
Causes	Mutations in the MPLKIP gene
Risks	Family history
Diagnosis	Genetic testing, clinical evaluation
Differential diagnosis	Trichothiodystrophy, Ichthyosis
Prevention	N/A
Treatment	Symptomatic management
Medication	N/A
Prognosis	Variable, depends on severity
Frequency	Rare
Deaths	N/A

Sabinas Brittle Hair Syndrome is a rare genetic disorder characterized by brittle hair that breaks easily, along with intellectual disability and physical abnormalities. The syndrome is named after the region in Mexico where it was first identified.

Symptoms

The primary symptom of Sabinas Brittle Hair Syndrome is hair that is dry, brittle, and breaks easily. Other symptoms can include intellectual disability, short stature, and physical abnormalities such as a small head (microcephaly), facial asymmetry, and a high arched palate.

Causes

Sabinas Brittle Hair Syndrome is caused by mutations in the PADI3 gene. This gene provides instructions for making an enzyme that modifies other proteins in the body. Mutations in the PADI3 gene disrupt the normal function of this enzyme, leading to the symptoms of Sabinas Brittle Hair Syndrome.

Diagnosis

Diagnosis of Sabinas Brittle Hair Syndrome is based on the characteristic symptoms, particularly the brittle hair. Genetic testing can confirm a diagnosis by identifying a mutation in the PADI3 gene.

Treatment

There is currently no cure for Sabinas Brittle Hair Syndrome. Treatment is focused on managing the symptoms and may include special hair care products to help strengthen the hair and prevent breakage.

See Also

• Genetic Disorders
• Hair Disorders
• Intellectual Disability

References

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