Bjornstad Syndrome (BJS)

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Disease Ontology 12 DOID:0050677 OMIM 58 262000 KEGG 38 H00820 MeSH 45 D006201 D006319 MESH via Orphanet 46 C537633

UMLS via Orphanet 75 C0266006 Orphanet 60 ORPHA123 MedGen 43 C0266006 SNOMED-CT via HPO 70 14662005 17170005 228156007 247578003 25159003 258211005 278040002 39659002 48130008 48610005 56317004 60700002 79395009 91138005 more UMLS 74 C0266006

NIH Rare Diseases : ⁵⁴ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 123Disease definitionBjörnstad syndrome is characterized by congenitalsensorineural hearing loss and pili torti.EpidemiologyLess than fifty cases have been reported so far.Clinical descriptionThe hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life.EtiologyBjörnstad syndrome is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome (see this term).Genetic counselingBjörnstad syndrome is transmitted as an autosomal recessive condition.Visit the Orphanet disease page for more resources.

MalaCards based summary : Bjornstad Syndrome, also known as pili torti and nerve deafness, is related to mitochondrial complex iii deficiency and pili torti, early-onset. An important gene associated with Bjornstad Syndrome is BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone). Affiliated tissues include prostate, skin and brain, and related phenotypes are sensorineural hearing impairment and alopecia

Disease Ontology : ¹² An autosomal recessive disease that is characterized by early onset of hearing loss and hair loss due to pili torti, has material basis in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35.

Genetics Home Reference : ²⁶ Björnstad syndrome is a rare disorder characterized by abnormal hair and hearing problems. Affected individuals have a condition known as pili torti, which means "twisted hair," so named because the strands appear twisted when viewed under a microscope. The hair is brittle and breaks easily, leading to short hair that grows slowly. In Björnstad syndrome, pili torti usually affects only the hair on the head; eyebrows, eyelashes, and hair on other parts of the body are normal. The proportion of hairs affected and the severity of brittleness and breakage can vary. This hair abnormality commonly begins before the age of 2. It may become milder with age, particularly after puberty.

OMIM : ⁵⁸ Bjornstad syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss and pili torti. The hearing loss is congenital and of variable severity. Pili torti (twisted hairs), a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair very brittle, is usually recognized early in childhood (Selvaag, 2000). (262000)

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UniProtKB/Swiss-Prot : ⁷⁶ Bjoernstad syndrome: An autosomal recessive disease characterized by congenital sensorineural hearing loss and twisted hairs (pili torti). Pili torti is a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair extremely brittle.

Wikipedia : ⁷⁷ Björnstad syndrome is an autosomal recessive congenital condition involving pili torti and nerve... more...

Clinical features from OMIM:

262000

Search Clinical Trials , NIH Clinical Center for Bjornstad Syndrome

Search GEO for disease gene expression data for Bjornstad Syndrome.