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

Rare Disease

alopecia - contractures - dwarfism - intellectual disability syndrome

MONDO:0008754

Also known as:ACD-intellectual disability syndromeACD mental retardation syndromealopecia-contractures-dwarfism mental retardation syndrome

Overview

Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.

Diagnosis

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

Prognosis

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 - contractures - dwarfism - intellectual disability syndrome.

110 publications have been identified in PubMed for alopecia - contractures - dwarfism - intellectual disability syndrome. Research spans Review / Meta-Analysis (34%), Epidemiology / Natural History (21%), and Case Report / Case Series (16%).

Research Type	Count	% of Total
Research summaries	37	34%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 6:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:203550

Orphanet

European rare disease database

Orphanet:1005

GARD

Genetic and Rare Diseases Info Center

GARD:605

Questions for Your Care Team

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alopecia - contractures - dwarfism - intellectual disability syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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