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dysmorphism-cleft palate-loose skin syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dysmorphism-cleft palate-loose skin syndrome

MONDO:0015782

Overview

Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congential, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss.

Diagnosis

Biomarker and diagnostic research for dysmorphism-cleft palate-loose skin syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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 dysmorphism-cleft palate-loose skin syndrome.

206 publications have been identified in PubMed for dysmorphism-cleft palate-loose skin syndrome. Kisho has analyzed 68 by research type. Research spans Review / Meta-Analysis (53%), Basic Science / Preclinical (29%), and Case Report / Case Series (10%).

Research Type	Count	% of Total
Research summaries	36	53%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 11:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1779

GARD

Genetic and Rare Diseases Info Center

GARD:2009

Questions for Your Care Team

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dysmorphism-cleft palate-loose skin syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications