schneckenbecken dysplasia
Findings
No curated finding names schneckenbecken dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.
Definition from the Mondo Disease Ontology (MONDO:0010013), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Fetal onset
HPO, annotations 2026-09-02
Features
40 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Flat acetabular roofHPOHP:0003180
- 1 of 1 reported patient
- Limb undergrowthHPOHP:0009826
- 2 of 2 reported patients
- Midface retrusionHPOHP:0011800
- 1 of 1 reported patient
- Narrow chestHPOHP:0000774
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Narrow vertebral interpedicular distanceHPOHP:0008450
- 1 of 1 reported patient
- Nonimmune hydrops fetalisHPOHP:0001790
- 2 of 2 reported patients
- Ovoid vertebral bodies
Show the remaining 28
- Umbilical herniaHPOHP:0001537
- 1 of 1 reported patient
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Very frequent (80% to 99% of cases)
- Disproportionate short-limb short statureHPOHP:0008873
- Very frequent (80% to 99% of cases)
- Fibular hypoplasiaHPOHP:0003038
- Very frequent (80% to 99% of cases)
- Hypoplastic iliaHPOHP:0000946
- Very frequent (80% to 99% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC35D1HGNC:20800
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- INPPL1HGNC:6080
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: schneckenbecken dysplasia
- Also called
- chondrodysplasia with snail-like pelvisSLC35D1-CDG