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short stature-wormian bones-dextrocardia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

short stature-wormian bones-dextrocardia syndrome

MONDO:0008499

Also known as:Stratton-Parker syndromeGrowth hormone deficiency with Wormian bones, Cardiac anomaly, and Brachycamptodactylyshort stature wormian bones dextrocardia

Overview

Short stature-wormian bones-dextrocardia syndrome is a multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia.

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: Cryptorchidism, Broad alveolar ridges, High palate, and Abnormality of the philtrum and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Depressed nasal tip, Spasticity, Difficulty with thinking and memory (cognitive impairment)

Diagnosis

Biomarker and diagnostic research for short stature-wormian bones-dextrocardia syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 25 very common features.

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 short stature-wormian bones-dextrocardia syndrome.

202 publications have been identified in PubMed for short stature-wormian bones-dextrocardia syndrome. Kisho has analyzed 116 by research type. Research spans Review / Meta-Analysis (51%), Case Report / Case Series (17%), and Basic Science / Preclinical (10%).

Research Type	Count	% of Total
Research summaries	59	51%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:185120

Orphanet

European rare disease database

Orphanet:2863

GARD

Genetic and Rare Diseases Info Center

GARD:4856

Questions for Your Care Team

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Kisho

short stature-wormian bones-dextrocardia syndrome

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

short stature-wormian bones-dextrocardia syndrome

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