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Alopecia - intellectual disability syndrome

MedGen UID:
444019
•Concept ID:
C2931280
•
Disease or Syndrome
Synonyms: Alopecia-intellectual disability syndrome; Alopecia-mental retardation syndrome
SNOMED CT: Alopecia and intellectual disability syndrome (716191002); Perniola Krajewska Carnevale syndrome (716191002)
 
Monarch Initiative: MONDO:0008756
OMIM® Phenotypic series: PS203650
Orphanet: ORPHA2850

Definition

An extremely rare syndrome described in less than 20 families to date and has characteristics of total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAlopecia - intellectual disability syndrome

Professional guidelines

PubMed

Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics.
Matza Porges S, Mor-Shaked H, Shaag A, Porat S, Daum H
Eur J Med Genet 2023 Oct;66(10):104825. Epub 2023 Sep 1 doi: 10.1016/j.ejmg.2023.104825. PMID: 37659595
Treatment of alopecia areata: An Australian expert consensus statement.
Cranwell WC, Lai VW, Photiou L, Meah N, Wall D, Rathnayake D, Joseph S, Chitreddy V, Gunatheesan S, Sindhu K, Sharma P, Green J, Eisman S, Yip L, Jones L, Sinclair R
Australas J Dermatol 2019 May;60(2):163-170. Epub 2018 Nov 8 doi: 10.1111/ajd.12941. PMID: 30411329

Recent clinical studies

Diagnosis

Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.
Elbendary HM, Marafi D, Saad AK, Elhossini R, Duan R, Rafat K, Jhangiani SN, Gibbs RA, Pehlivan D, Calame DG, Posey JE, Lupski JR, Zaki MS
Clin Genet 2023 Sep;104(3):344-349. Epub 2023 May 9 doi: 10.1111/cge.14348. PMID: 37157980Free PMC Article
Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature.
Elaraby NM, Ahmed HA, Ashaat NA, Tawfik S, Ahmed MKH, Hassib NF, Ashaat EA
J Mol Neurosci 2022 Nov;72(11):2242-2251. Epub 2022 Oct 17 doi: 10.1007/s12031-022-02074-y. PMID: 36251212Free PMC Article

Supplemental Content

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    Reviews

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    • GTR(Clinical)
      Clinical tests in GTR
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