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schneckenbecken dysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

schneckenbecken dysplasia

MONDO:0010013

Also known as:SLC35D1-CDGchondrodysplasia with snail-like pelvisSHNKND

Overview

Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

GeneticsAutosomal recessive · SLC35D1 (chr 1)

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 always present findings: Thoracic hypoplasia, Nonimmune hydrops fetalis, Snail-like ilia, and Narrow vertebral interpedicular distance and others; and common findings: Short nose and Bilateral talipes equinovarus. 30 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	5	Narrow vertebral interpedicular distance, Short long bone, Ovoid vertebral bodies

Genetic Landscape

SLC35D1 function has not been fully characterized.

Schneckenbecken dysplasia is caused by mutations in the SLC35D1 gene on chromosome 1.

Diagnosis

Genetic testing for SLC35D1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 14 always present features, 2 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 schneckenbecken dysplasia.

1 publication has been identified in PubMed for schneckenbecken dysplasia. Research spans Review / Meta-Analysis (100%).

Recent Publications

Quelhas D (2026). [PMID: 41554664](https://pubmed.ncbi.nlm.nih.gov/41554664/). *Journal of inherited metabolic disease*. [Review / Meta-Analysis]

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 11:07 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:269250

Orphanet

European rare disease database

Orphanet:3144

GARD

Genetic and Rare Diseases Info Center

GARD:169

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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schneckenbecken dysplasia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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