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

cutis laxa - Marfanoid syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cutis laxa - Marfanoid syndrome

MONDO:0013574

Also known as:cutis laxa, neonatal, with MARFANOID phenotype

Overview

GeneticsAutosomal dominant

Patient Orgs1 organizations · National Marfan Foundation

ResearchLimited published research (1 article)

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 very common findings: Arachnodactyly, Hip dislocation, Emphysema, and Congenital diaphragmatic hernia and others; and common findings: Abnormal heart valve (abnormal heart valve morphology). 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	2	Abnormal heart morphology, Abnormal heart valve (abnormal heart valve morphology)

Prognosis

Phenotype severity distribution: 7 very common features, 1 common feature.

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 cutis laxa - Marfanoid syndrome.

1 publication has been identified in PubMed for cutis laxa - Marfanoid syndrome. Research spans Case Report / Case Series (100%).

Recent Publications

Chopra L (2024). [PMID: 38894765](https://pubmed.ncbi.nlm.nih.gov/38894765/). *Cureus*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

View all PAGs →

National Marfan FoundationPrimary Focus

USWebsite ↗

Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

Are you a patient organization not listed here? Claim this page to be listed and embed this content on your site — free.

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614100

Orphanet

European rare disease database

Orphanet:171719

GARD

Genetic and Rare Diseases Info Center

GARD:17069

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with National Marfan Foundation and other patient organizations for support?

← Back to All Diseases

cutis laxa - Marfanoid syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features