Symptoma

BIDS Syndrome

Trichothiodystrophy

This defect is not present in the nonphotosensitive TTD's. These type of defects can result in other rare autosomal recessive diseases like xeroderma pigmentosum and Cockayne syndrome. [en.wikipedia.org]

[…] disease BIDS syndrome ORPHA:1245 Synonym(s): Amish brittle hair syndrome Trichothiodystrophy type D Prevalence: - Inheritance: - Age of onset: - ICD-10: - OMIM: 234050 UMLS: C3495483 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented [orpha.net]

The present results indicate that all subjects might benefit from bifocals. [journals.lww.com]

Here we present the impact of bifocals on the rate of progress in literacy skills in this population. Methods: : Eleven children aged 8-18 with DS were followed for 6 months with single vision lenses and then for another 6 months with bifocals. [iovs.arvojournals.org]

Teeth abnormalities include dental caries and enamel hypoplasia; dystrophic teeth may be present as well. [dermatologyadvisor.com]

  • Short Stature

    BIDS is characterized by brittle hair, intellectual impairment, decreased fertility, and short stature. There is a photosensitive syndrome, PBIDS.BIDS is associated with the gene MPLKIP (TTDN1). [en.wikipedia.org]

    Syndromes — Amish Brittle Hair Brain Syndrome — Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome — Brittle Hair Intellectual Impairment Decreased Fertility Short Stature Syndrome — Amish Brittle Hair Syndrome — Hair-Brain [mesh.kib.ki.se]

    Abstract The physicochemical properties of hair from a new recessive syndrome associated with brittle hair, intellectual impairment, decreased fertility, and short stature have been studied. [ncbi.nlm.nih.gov]

    Jorizzo JL, Atherton DJ, Crounse RG, Wells RS (1982) Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBIDS syndrome). Br J Dermatol 106:705–710 Google Scholar 7. [link.springer.com]

    IBIDS Syndrome IBIDS syndrome is an acronym for intellectual impairment-brittle hair-ichthyosis-decreased fertility-short stature syndrome. [hairscientists.org]

  • Disturbance of Growth

    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]

  • Brittle Hair

    IBIDS syndrome, following the acronym from ichthyosis, brittle hair and nails, intellectual impairment and short stature, is the Tay syndrome or sulfur-deficient brittle hair syndrome, first described by Tay in 1971. [en.wikipedia.org]

    Trichothiodystrophy, Photosensitive — PIBIDS Syndrome — PIBIDS Syndromes — Amish Brittle Hair Brain Syndrome — Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome — Brittle Hair Intellectual Impairment Decreased Fertility [mesh.kib.ki.se]

    Abstract The physicochemical properties of hair from a new recessive syndrome associated with brittle hair, intellectual impairment, decreased fertility, and short stature have been studied. [ncbi.nlm.nih.gov]

    BIDS Syndrome BIDS syndrome is an acronym for brittle hair-ichthyosis-decreased fertility-short stature syndrome. It is also called Amish brittle hair syndrome and hair brain syndrome. [hairscientists.org]

    The characteristic manifestations of this disease include brittle hair, short stature, mild intellectual impairment, and decreased fertility. [wohproject.org]

  • Sparse Hair

    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]

    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]

  • Koilonychia

    Many TTD patients also have nail findings, including but not limited to onychodystrophy, brittle nails, hypoplasia, koilonychia, onychoschizia (nail splitting), and ridging. [dermatologyadvisor.com]

  • Dry, Scaly Skin

    Dry, scaly skin is the main symptom. The scales form on only some parts of the body, such as the: Trunk Stomach Buttocks Legs Face and scalp The scales can be white, gray, or dark brown. They might have thick or thin cracks running through them. [webmd.com]

    Other features of trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of the fingernails and toenails; clouding of the lens in both eyes from birth (congenital cataracts ); poor coordination; and skeletal abnormalities. [ghr.nlm.nih.gov]

  • Psychomotor Retardation

    The majority of TTD patients have some neurological abnormalities, ranging from developmental delay, intellectual impairment, and microcephaly to impaired motor control or psychomotor retardation. [dermatologyadvisor.com]

See Workup for more detail. [emedicine.medscape.com]

Treatment: There is no treatment known to prevent or delay the symptoms. Prognosis: There is no evidence of reduced lifespan. Ancillary treatments and support: No special treatment is required. Specialists and specialty centers: Pediatrician. [wohproject.org]

Treatments It can't be cured, but treatments can help you manage dry and scaly skin. Continued Rub cream, lotion, or ointment onto your skin every day to add moisture. [webmd.com]

Hair Scalp Hair Autosomal Dominant Phenotypes Pathogenesis and Clinical Picture Diseasesof the Skin and its Appendages Lethal Mutations Surviving by Mosaicism References Clinical Aspects Chapter 15Structural Anomalies of the Hair Shaft 6Diagnosis and Treatment [books.google.de]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Prognosis: There is no evidence of reduced lifespan. Ancillary treatments and support: No special treatment is required. Specialists and specialty centers: Pediatrician. [wohproject.org]

Prognosis - Bd syndrome Not supplied. Treatment - Bd syndrome Not supplied. [checkorphan.org]

Prognosis The natural history of Budd-Chiari syndrome is not well known. [emedicine.medscape.com]

In fact, according to the prognosis doctors gave him at birth, he shouldn't be alive at all. Jake Dering's story is one of defying the odds — again, and again, and again. [pamplinmedia.com]

Picture Diseasesof the Skin and its Appendages Lethal Mutations Surviving by Mosaicism References Clinical Aspects Chapter 15Structural Anomalies of the Hair Shaft 6Diagnosis and Treatment Anomalies Without Increased Hair Fragility References Monilethrix Etiology [books.google.de]

Budd-Chiari syndrome: etiology, pathogenesis and diagnosis. World J Gastroenterol. 2007 May 21. 13(19):2693-6. [Medline]. Darwish Murad S, Plessier A, Hernandez-Guerra M, et al. Etiology, management, and outcome of the Budd-Chiari syndrome. [emedicine.medscape.com]

Etiology TTD is an autosomal recessive disease caused by mutations in one of three DNA repair genes (XPB, XPD, or TTDA), or in TTDN1, a gene with unknown function(s). [dermatologyadvisor.com]

A more aggressive initial treatment may be appropriate, such as stents or balloon dilation, depending on the etiology of the obstruction. [47] [72] Cornea Keratoconus generally affects adult Down syndrome patients and is rare in children. [eyewiki.aao.org]

Temperament profiles and somatization—an epidemiological study of young adult people. Journal of Psychosomatic Research, Vol. 61, Issue. 6, p. 841. CrossRef Google Scholar [cambridge.org]

The epidemiology of Budd-Chiari syndrome in France. Dig Liver Dis. 2018 Sep. 50 (9):931-7. [Medline]. Su L, Hu L, Liang P, Wu Y, Sun Q, Gao J. [emedicine.medscape.com]

In 1-2% of Down syndrome patients, mosaicism is present due to an error in cell division in the early embryonic stage, and these patients may have a less severe phenotype. [2] Epidemiology Down syndrome is the most common chromosomal abnormality. [3] [eyewiki.aao.org]

Chapter 15Structural Anomalies of the Hair Shaft 6Diagnosis and Treatment Anomalies Without Increased Hair Fragility References Monilethrix Etiology and Pathogenesis Hypomelanotic Hair Disorders 2Modelsfor Cultivating Follicular Keratinocytes In Vitro Pathophysiological [books.google.de]

Pathophysiology The genes XPB, XPD, and TTDA are involved in nucleotide excision repair and basal transcription as part of the basal transcription factor IIH (TFIIH). [dermatologyadvisor.com]

Pathophysiology Occlusion of a single hepatic vein is usually silent. [emedicine.medscape.com]

The goal of treatment is to prevent drying, cracking and splitting of the skin, which may predispose to secondary skin infections. [dermatologyadvisor.com]

Treatment: There is no treatment known to prevent or delay the symptoms. Prognosis: There is no evidence of reduced lifespan. Ancillary treatments and support: No special treatment is required. Specialists and specialty centers: Pediatrician. [wohproject.org]

Prevention - Bd syndrome Not supplied. Diagnosis - Bd syndrome Not supplied. Prognosis - Bd syndrome Not supplied. Treatment - Bd syndrome Not supplied. [checkorphan.org]

Targeting the α7 nicotinic acetylcholine receptor to prevent progressive dementia and improve cognition in adults with Down's syndrome. Prog Neuropsychopharmacol Biol Psychiatry. [cambridgecognition.com]