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facial dysmorphism-shawl scrotum-joint laxity syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

facial dysmorphism-shawl scrotum-joint laxity syndrome

MONDO:0015781

Also known as:Seaver-Cassidy syndromefacial dysmorphism shawl scrotum joint laxityhypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies

Overview

Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterized by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.

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 facial dysmorphism-shawl scrotum-joint laxity syndrome.

123 publications have been identified in PubMed for facial dysmorphism-shawl scrotum-joint laxity syndrome. Kisho has analyzed 23 by research type. Research spans Case Report / Case Series (43%), Review / Meta-Analysis (35%), and Basic Science / Preclinical (13%).

Research Type	Count	% of Total
Patient case studies	10	43%

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 9:45 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1778

GARD

Genetic and Rare Diseases Info Center

GARD:4778

Questions for Your Care Team

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facial dysmorphism-shawl scrotum-joint laxity 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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