Trichothiodystrophy

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We were unfortunately unable to download the information for this disease from OMIM.



Prevalence of clinical parameters (%)







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Brittle hair integumentary 96 % 18603627 2011-11-29
Developmental delay nervous 86 % 18603627 2011-11-29
Short stature multi 73 % 18603627 2011-11-29
Ichthyosis integumentary 65 % 18603627 2011-11-29
Microcephaly nervous 50 % 18603627 2011-11-29
Sun sensitivity integumentary 42 % 18603627 2011-11-29
Recurrent infections lymphatic 36 % 18603627 2011-11-29
Cataract nervous 29 % 18603627 2011-11-29
Ataxia nervous 26 % 18603627 2011-11-29
Hearing loss nervous 20 % 18603627 2011-11-29
Demyelination nervous 14 % 18603627 2012-01-10
Nystagmus nervous 14 % 18603627 2011-11-29
Hyperactive reflexes nervous 13 % 18603627 2011-11-29
Hypogonadism nervous 12 % 18603627 2011-11-29
Anemia circulatory 12 % 18603627 2011-11-29
Strabismus nervous 10 % 18603627 2011-11-29
Tremor nervous 7 % 18603627 2011-11-29
Seizures nervous 6 % 18603627 2011-11-29
Dysarthria nervous 4 % 18603627 2011-11-29
Cerebellar atrophy nervous 4 % 18603627 2011-11-29
Cerebral atrophy nervous 4 % 18603627 2011-11-29



List of references:


Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.
S Faghri, D Tamura, K H Kraemer, J J Digiovanna,

Trichothiodystrophy (TTD) is a rare, autosomal recessive disease, characterised by brittle, sulfur deficient hair and multisystem abnormalities. A systematic literature review identified 112 patients ranging from 12 weeks to 47 years of age (median 6 years). In addition to hair abnormalities, common features reported were developmental delay/intellectual impairment (86%), short stature (73%), ichthyosis (65%), abnormal characteristics at birth (55%), ocular abnormalities (51%), infections (46%), photosensitivity (42%), maternal pregnancy complications (28%) and defective DNA repair (37%). There was high mortality, with 19 deaths under the age of 10 years (13 infection related), which is 20-fold higher compared to the US population. The spectrum of clinical features varied from mild disease with only hair involvement to severe disease with profound developmental defects, recurrent infections and a high mortality at a young age. Abnormal characteristics at birth and pregnancy complications, unrecognised but common features of TTD, suggest a role for DNA repair genes in normal fetal development.

Journal of medical genetics - Oct 2008