Other associated findings may include short stature, progeria-like facies, history of collodion membrane at birth, hypogonadism, microcephaly, increased susceptibility to infections, intellectual impairment, delayed neuromuscular development, cataract [ijpd.in]

Due to feeding problems and poor weight gain, some TTD children will have feeding tubes (either gastrostomy or nasogastric tubes) placed to augment oral feeding. [rarediseases.org]

• low level weight gain. The hair-shaft is brittle – it fractures and severs on emergence from its host follicle. The overall appearance being of short, sparse hair. Eyebrows and eyelashes may be inculcated. [hairscientists.org]

Kinky hair, photosensitivity, broken eyebrows and eyelashes, and non progressive mental retardation. J Pediatrics, 95, 1007–1008, 1979 CrossRef Google Scholar 3. Coulter DL, Beals TF, Allen RJ. [link.springer.com]

He also had bilateral low-set ears, ectropion, yellowish foul-smelling discharge on the umbilical stump, left undescended testes, with normal neurologic examination. [ijpd.in]

We delineate the criteria for distinguishing this gene defect from other types of congenital ichthyosis associated with disturbed hair growth, as well as from other types of trichothiodystrophy which are not associated with ichthyosis. [link.springer.com]

He also had bilateral low-set ears, ectropion, yellowish foul-smelling discharge on the umbilical stump, left undescended testes, with normal neurologic examination. [ijpd.in]

A syndrome manifested by brittle hair with morphologic and biochemical abnormalities, developmental delay and normal stature. Birth Defects, 12, 219–228, 1976 PubMed Google Scholar 19. Venning VA, Dawber RPR, Ferguson DJP, Kanan MW. [link.springer.com]

Patient had alopecia on the frontal, temporal and vertex of the scalp. [ijpd.in]

Traupe H, Happle R (1983) Alopecia ichthyotica. A characteristic feature of congenital ichthyosis. Dermatologica (Basel) 167: 225–230 Google Scholar Copyright information Authors and Affiliations R. Happle 1 H. Traupe 1 H. Gröbe 2 G. Bonsmann 1 1. [link.springer.com]

ichythyosis, follicular atrophoderma, stippled epiphyses, cataract Focal Dermal Hypoplasia (Goltz Syndrome) PORCN gene, regulator of Wnt signaling Brittle alopecia, fat herniation in Blaschko's lines, congenital absence of skin focal dermal hypoplasia [quizlet.com]

While brittle hair, sparse hair, or alopecia are not life-threatening conditions, their effect on a patient’s psyche can be substantial. Encourage patients to take a conservative approach to hair dressing. [dermatologyadvisor.com]

[…] intracorneal blood, disseminated punctuate intraepidermal hemorrhage, black palm, playstation thumb, tennis toe) Targetoid Hemosiderotic Hemangioma (Hobnail Hemangioma) Telangiectasia (generalized essential telangiectasia) Telogen Effluvium (Stress-Induced Alopecia [pulmonologyadvisor.com]

hair * Delayed physical development * Red skin * Prematurely aged appearance * Beaked nose * Receding chin * Protruding ears * Low birth weight * Short stature * Neurosensory deafness * Seizures * Tremors * Undescended testes * Underdeveloped female [checkorphan.org]

hair on the scalp and eyebrows [Figure 1] a and b. [ijtrichology.com]

The overall appearance being of short, sparse hair. Eyebrows and eyelashes may be inculcated. There is currently no treatment for TrichoThioDystrophy. Examination of the hair reveals that its cross sectional shape is oval. [hairscientists.org]

[…] gene clinical: SCC, BCC, rare osteosarcoma, hypogonadism, juvenile cataract, poikiloderma, sparse scalp/eyebrow risk of cancer for Rothmund-Thomson syndrome Anhidrotic Ectodermal Dysplasia Christ-Siemens-Touraine Syndrome ectodysplasin-A peg teeth, sparse [quizlet.com]

hair and nail changes • CA risk – BCC, SCC and osteogenic sarcoma Rothmund-Thomson (Poikiloderma congenitale) • AR • BLM gene defect – ReqQ protein-like—3 DNA helicase – Increased sister chromatid exchange Growth deficiency, photosensitive, telangiectasia [brainscape.com]

It has been reported in many cases of TTD, that follicular keratosis (a cutaneous condition characterized by a horny growth) may be a sign of ichthyosis (PFOND, 2012). c. [hairscientists.org]

Proteins of normal hair and of cystine-deficient hair from mentally retarded siblings. Biochem J, 122, 433–444, 1971 PubMed Google Scholar 31. Jorizzo JL, Crounse RG, Wheeler CE. [link.springer.com]

nose * Receding chin * Protruding ears * Low birth weight * Short stature * Neurosensory deafness * Seizures * Tremors * Undescended testes * Underdeveloped female genitalia * Absence of female breast tissue * Photosensitivity Causes - PIBIDS syndrome [checkorphan.org]

[…] increase in skin cancer – Complementation group B, D and G • AR • RECQL2 – DNA helicase Werner Syndrome (Adult Progeria) • Scleroderma-like changes • Beaked nose • CAD Werner Syndrome (Adult Progeria) Hutchinson-Gilford/Progeria • Premature aging • Death [brainscape.com]

Intellectual impairment Mental retardation with low IQ, delayed physical maturation, defects in the development of the nervous system, lethargy (a lowered level of consciousness, with drowsiness, listlessness and apathy), irritability and unusual social [hairscientists.org]

Absent breast tissue, oligomenorrhea (infrequent or very light menstruation) and delayed menarche (first menstrual period) have been reported in female patients with under developed genitalia. [hairscientists.org]

Absent breast tissue, oligomenorrhea (infrequent or very light menstruation) and delayed menarche (first menstrual period) have been reported in female patients with under developed genitalia. [hairscientists.org]