platyspondylic dysplasia, Torrance type
MONDO:0007895Mondo
Findings
No curated finding names platyspondylic dysplasia, Torrance type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Stillbirth
HPO, annotations 2026-09-02
Features
43 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.
- Hypoplastic iliaHPOHP:0000946
- 2 of 2 reported patients
- Limb undergrowthHPOHP:0009826
- 2 of 2 reported patients
- Metaphyseal irregularityHPOHP:0003025
- 2 of 2 reported patients
- Severe limb shorteningHPOHP:0200083
- 2 of 2 reported patients
- Short long boneHPOHP:0003026
- 2 of 2 reported patients
- Thoracic hypoplasiaHPOHP:0005257
- 2 of 2 reported patients
- Abdominal distentionHPOHP:0003270
- Very frequent (80% to 99% of cases)
- Abnormal carpal morphologyHPOHP:0001191
- Very frequent (80% to 99% of cases)
- Bowing of the long bonesHPOHP:0006487
- Very frequent (80% to 99% of cases)
- Disproportionate short-limb short statureHPOHP:0008873
- Very frequent (80% to 99% of cases)
- Hypoplasia of the capital femoral epiphysisHPOHP:0003090
- Very frequent (80% to 99% of cases)
- Hypoplastic pelvisHPOHP:0008839
- Very frequent (80% to 99% of cases)
Show the remaining 31
- Metaphyseal cuppingHPOHP:0003021
- Very frequent (80% to 99% of cases)
- MicromeliaHPOHP:0002983
- 1 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Narrow chestHPOHP:0000774
- Very frequent (80% to 99% of cases)
- PlatyspondylyHPOHP:0000926
- Very frequent (80% to 99% of cases)
- Short distal phalanx of fingerHPOHP:0009882
- Very frequent (80% to 99% of cases)
- Short footHPOHP:0001773
Genes
1 gene
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.
- COL2A1HGNC:2200
- Definitive · ClinGen · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: platyspondylic dysplasia, Torrance type
- Also called
- Platyspondylic dysplasia, Torrance-Luton typePlatyspondylic lethal skeletal dysplasia, Torrance typeplatyspondylic skeletal dysplasia, Torrance typePLSD-T