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alopecia - intellectual disability syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

alopecia - intellectual disability syndrome

MONDO:0008756

Also known as:Perniola-Krajewska-Carnevale syndromealopecia-mental retardation syndromeAMR syndrome 1

Overview

An extremely rare syndrome described in less than 20 families to date and characterized by 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.

OnsetNEONATAL

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Microcephaly, Hearing loss (hearing impairment), Intellectual disability, and Low muscle tone (hypotonia) and others; and common findings: Photophobia, Hypergonadotropic hypogonadism, Brachydactyly, and Split hand and others. 24 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	3	Sideways curvature of the spine (scoliosis), Delayed skeletal maturation, Abnormal skeletal morphology

Diagnosis

Biomarker and diagnostic research for alopecia - intellectual disability syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 very common features, 11 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for alopecia - intellectual disability syndrome.

150 publications have been identified in PubMed for alopecia - intellectual disability syndrome. Research spans Review / Meta-Analysis (64%), Basic Science / Preclinical (13%), and Epidemiology / Natural History (9%).

Research Type	Count	% of Total
Research summaries	96	64%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 3:32 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2850

GARD

Genetic and Rare Diseases Info Center

GARD:612

Questions for Your Care Team

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alopecia - intellectual disability syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

alopecia - intellectual disability syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications