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Alopecia - intellectual disability syndrome

MedGen UID:
Concept ID:
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


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


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
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


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
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

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