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microcephaly-cleft palate syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly-cleft palate syndrome

MONDO:0016750

Also known as:Halal syndromemicrocephaly cleft palate autosomal dominantmicrocephaly-cleft palate-abnormal retinal pigmentation syndrome

Overview

Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.

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 microcephaly-cleft palate syndrome.

311 publications have been identified in PubMed for microcephaly-cleft palate syndrome. Kisho has analyzed 87 by research type. Research spans Basic Science / Preclinical (32%), Epidemiology / Natural History (28%), and Review / Meta-Analysis (25%).

Research Type	Count	% of Total
Laboratory research	28	32%

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 7:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2521

GARD

Genetic and Rare Diseases Info Center

GARD:8623

Questions for Your Care Team

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microcephaly-cleft palate syndrome

Overview

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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