spondyloperipheral dysplasia
Findings
No curated finding names spondyloperipheral dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A condition caused by by truncating mutations in the C-propeptide of COL2A1. Like other type II collagen disorders it is characterized by short stature, platyspondyly and epiphyseal dysplasia. A distinguishing feature is the presence of brachydactyly with a prominent first toe.
Definition from the Mondo Disease Ontology (MONDO:0010078), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
41 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.
- Acetabular spursHPOHP:0010454
- 1 of 1 reported patient
- BrachydactylyHPOHP:0001156
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Flat acetabular roofHPOHP:0003180
- 1 of 1 reported patient
- Flat capital femoral epiphysisHPOHP:0003370
- 1 of 1 reported patient
- High myopiaHPOHP:0011003
- 1 of 1 reported patient
- Irregular vertebral endplatesHPOHP:0003301
Show the remaining 29
- Short distal phalanx of the 3rd fingerHPOHP:0004180
- 1 of 1 reported patient
- Short distal phalanx of the 4th fingerHPOHP:0009290
- 1 of 1 reported patient
- Short distal phalanx of the 5th fingerHPOHP:0004227
- 1 of 1 reported patient
- Short metacarpalHPOHP:0010049
- 1 of 1 reported patient
- Short neckHPOHP:0000470
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 1 of 1 reported patient
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 · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: spondyloperipheral dysplasia
- Also called
- spondyloperipheral dysplasia-short ulna syndrome