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Items: 5

1.

CEREBROOCULOFACIOSKELETAL SYNDROME 2, INCLUDED (1 patient)

MedGen UID:
903863
Concept ID:
C4225663
Finding
2.

CEREBROOCULOFACIOSKELETAL SYNDROME 2 (1 patient)

MedGen UID:
896412
Concept ID:
C4225632
Finding
3.

Ichthyosis, Congenital, with Trichothiodystrophy

MedGen UID:
355731
Concept ID:
C1866505
Disease or Syndrome
4.

Trichothiodystrophy 1, photosensitive

Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). Genetic Heterogeneity of Trichothiodystrophy Also see TTD2 (616390), caused by mutation in the ERCC3/XPB gene (133510); TTD3 (616395), caused by mutation in the GTF2H5 gene (608780); TTD4 (234050), caused by mutation in the MPLKIP gene (609188); TTD5 (300953), caused by mutation in the RNF113A gene (300951); and TTD6 (616943), caused by mutation in the GTF2E2 gene (189964). [from OMIM]

MedGen UID:
355730
Concept ID:
C1866504
Disease or Syndrome
5.

Xeroderma pigmentosum, group D

Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals), with marked freckle-like pigmentation of the face before age two years in most affected individuals; Sunlight-induced ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years). [from GeneReviews]

MedGen UID:
75656
Concept ID:
C0268138
Disease or Syndrome
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