Dyggve-Melchior-Clausen disease
Findings
No curated finding names Dyggve-Melchior-Clausen disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias.
Definition from the Mondo Disease Ontology (MONDO:0009130), read 2026-09-29. CC BY 4.0.
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
87 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.
- Beaking of vertebral bodiesHPOHP:0004568
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
- 15 of 15 reported patients
- Carpal bone hypoplasiaHPOHP:0001498
- 2 of 2 reported patients
- Coarse facial featuresHPOHP:0000280
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Flaring of lower rib cageHPOHP:0006589
- 15 of 15 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 75
- Wide pubic symphysisHPOHP:0003183
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Genu valgumHPOHP:0002857
- 16 of 17 reported patients
- Occasional (5% to 29% of cases)
- Short neckHPOHP:0000470
- 16 of 17 reported patients
- Frequent (30% to 79% of cases)
- Rhizomelic arm shorteningHPOHP:0004991
- 14 of 15 reported patients
- Shield chestHPOHP:0000914
- 14 of 15 reported patients
- Pectus carinatumHPOHP:0000768
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.
- DYMHGNC:21317
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- Narrower terms (1)
Other names
2 names
Resolves to: Dyggve-Melchior-Clausen disease
- Also called
- Dyggve Melchior Clausen syndromeDyggve-Melchior-Clausen syndrome