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microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type

MONDO:0013053

Also known as:Hadziselimovic syndromemicrocephaly-faciocardioskeletal syndrome

Overview

Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.

GeneticsAutosomal recessive

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: Hypoplasia of the corpus callosum. 31 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	4	U-Shaped upper lip vermilion, High palate, Thick lower lip vermilion
Heart and blood vessels

Diagnosis

Biomarker and diagnostic research for microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type 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 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type.

100 publications have been identified in PubMed for microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type. Research spans Review / Meta-Analysis (63%), Basic Science / Preclinical (16%), and Epidemiology / Natural History (12%).

Research Type	Count	% of Total
Research summaries	51	63%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:01 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612946

Orphanet

European rare disease database

Orphanet:217026

GARD

Genetic and Rare Diseases Info Center

GARD:17116

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type

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

microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type

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