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short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis

MONDO:0032703

Also known as:SSASKS

Overview

GeneticsAutosomal recessive · SLC10A7 (chr 4)

ResearchLimited published research (3 articles)

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 always present findings: Hearing loss (hearing impairment), Short stature, Enamel hypoplasia, and Amelogenesis imperfecta; and very common findings: Micrognathia. 37 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	10	Short femoral neck, Excessive inward curvature of the lower spine (hyperlordosis), Irregular vertebral endplates

Genetic Landscape

SLC10A7 function has not been fully characterized.

Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis is caused by mutations in the SLC10A7 gene on chromosome 4.

Diagnosis

Genetic testing for SLC10A7 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 1 very common feature, 6 common features.

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, amelogenesis imperfecta, and skeletal dysplasia with scoliosis.

3 publications have been identified in PubMed for short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis. Research spans Basic Science / Preclinical (67%) and Review / Meta-Analysis (33%).

Recent Publications

Zhao XC (2026). [PMID: 41229113](https://pubmed.ncbi.nlm.nih.gov/41229113/). *HGG advances*. [Basic Science / Preclinical]
Quelhas D (2026). [PMID: 41554664](https://pubmed.ncbi.nlm.nih.gov/41554664/). *Journal of inherited metabolic disease*. [Review / Meta-Analysis]
Sharmin N (2025). [PMID: 40569950](https://pubmed.ncbi.nlm.nih.gov/40569950/). *PloS one*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618363

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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