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aphalangy-syndactyly-microcephaly syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

aphalangy-syndactyly-microcephaly syndrome

MONDO:0010882

Also known as:Aphalangia, partial, with syndactyly and Duplication of metatarsal type 4APHALANGIA, partial, with syndactyly and DUPLICATION of metatarsal IVAphalangia partial with syndactyly and duplication of metatarsal IV

Overview

Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.

GeneticsAutosomal dominant

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 sometimes findings: Kyphoscoliosis. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	2	Kyphoscoliosis, Duplication of metatarsal bones
Arms and legs

Diagnosis

Biomarker and diagnostic research for aphalangy-syndactyly-microcephaly 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 aphalangy-syndactyly-microcephaly syndrome.

200 publications have been identified in PubMed for aphalangy-syndactyly-microcephaly syndrome. Kisho has analyzed 153 by research type. Research spans Review / Meta-Analysis (64%), Basic Science / Preclinical (14%), and Epidemiology / Natural History (10%).

Research Type	Count	% of Total
Research summaries	98	64%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600384

Orphanet

European rare disease database

Orphanet:1113

GARD

Genetic and Rare Diseases Info Center

GARD:748

Questions for Your Care Team

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aphalangy-syndactyly-microcephaly syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

aphalangy-syndactyly-microcephaly syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications