metatropic dysplasia
Findings
No curated finding names metatropic dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.
Definition from the Mondo Disease Ontology (MONDO:0007986), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
52 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.
- Cone-shaped epiphysisHPOHP:0010579
- 2 of 2 reported patients
- Dumbbell-shaped femurHPOHP:0006375
- 22 of 22 reported patients
- Dumbbell-shaped metaphysesHPOHP:0002810
- 2 of 2 reported patients
- Enlarged jointsHPOHP:0003037
- 24 of 24 reported patients
- Flared metaphysisHPOHP:0003015
- 22 of 22 reported patients
- Flaring of rib cageHPOHP:0000904
- 2 of 2 reported patients
- Flexion contractureHPOHP:0001371
Show the remaining 40
- Flared iliac wingHPOHP:0002869
- 23 of 24 reported patients
- Cupped ribsHPOHP:0000887
- 21 of 22 reported patients
- Short ribsHPOHP:0000773
- 21 of 22 reported patients
- Narrow chestHPOHP:0000774
- 20 of 22 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal cortical bone morphologyHPOHP:0003103
- Very frequent (80% to 99% of cases)
- Abnormal enchondral ossificationHPOHP:0003336
- Very frequent (80% to 99% of cases)
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.
- TRPV4HGNC:18083
- Definitive · G2P · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: metatropic dysplasia
- Also called
- Metatropic dwarfismMetatropic Dysplasia I