Ichthyosis follicularis atrichia photophobia syndrome

A rare X-linked recessive disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth and primarily affecting males; female carriers may develop some milder clinical features. Some patients may also have intellectual disability, brain anomalies, HIRSCHSPRUNG DISEASE; CORNEAL OPACITY, kidney dysplasia, CRYPTORCHIDISM; CLEFT PALATE, and skeletal malformations, particularly of the vertebrae, which constitutes Brescheck Syndrome. Mutations in the MBTPS2 gene have been identified. OMIM: 308205

Also Known As:

IFAP syndrome Ichthyosis follicularis atrichia photophobia syndrome; Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome; Ifap syndrome with or without Bresheck syndrome

Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Keratosis: 706
    - Ichthyosis: 1008
      - Ichthyosis follicularis atrichia photophobia syndrome: 3
  - Skin Abnormalities: 159
    - Ichthyosis: 1008
      - Ichthyosis follicularis atrichia photophobia syndrome: 3
  - Hair Diseases: 36
    - Hypotrichosis: 170
      - Alopecia: 7880
        Ichthyosis follicularis atrichia photophobia syndrome: 3
Signs and Symptoms Pathological Conditions
- Anatomical Pathological Conditions
  - Alopecia: 7880
    - Ichthyosis follicularis atrichia photophobia syndrome: 3
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Sensation Disorders: 117
      - Vision Disorders: 2977
        Photophobia: 1601
        Ichthyosis follicularis atrichia photophobia syndrome: 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Skin Abnormalities: 159
    - Ichthyosis: 1008
      - Ichthyosis follicularis atrichia photophobia syndrome: 3
- Diseases Newborn Infant: 266
  - Ichthyosis: 1008
    - Ichthyosis follicularis atrichia photophobia syndrome: 3
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Sensation Disorders: 117
    - Vision Disorders: 2977
      - Photophobia: 1601
        Ichthyosis follicularis atrichia photophobia syndrome: 3
Eye Diseases: 3522
- Vision Disorders: 2977
  - Photophobia: 1601
    - Ichthyosis follicularis atrichia photophobia syndrome: 3

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