Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

marfanoid habitus-autosomal recessive intellectual disability syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

marfanoid habitus-autosomal recessive intellectual disability syndrome

MONDO:0009566

Also known as:MARFANOID intellectual disability syndrome, autosomalMARFANOID mental retardation syndrome, autosomalMarfanoid intellectual disability syndrome autosomal

Overview

Marfanoid habitus B intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit.

ResearchLimited published research (2 articles)

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 marfanoid habitus-autosomal recessive intellectual disability syndrome.

2 publications have been identified in PubMed for marfanoid habitus-autosomal recessive intellectual disability syndrome. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Krutish A (2025). [PMID: 40458561](https://pubmed.ncbi.nlm.nih.gov/40458561/). *Front Genet*. [Case Report / Case Series]
O'Connor FG (2024). [PMID: 39283673](https://pubmed.ncbi.nlm.nih.gov/39283673/). *FP Essent*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 21, 2026, 4:53 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:248770

Orphanet

European rare disease database

Orphanet:2463

GARD

Genetic and Rare Diseases Info Center

GARD:3388

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

marfanoid habitus-autosomal recessive intellectual disability syndrome

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team