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Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias.
Features include always present findings: Carpal bone hypoplasia, Short metacarpal, Excessive inward curve of the lower back (lumbar hyperlordosis), and Flaring of lower rib cage and others; and very common findings: Shield chest, Intellectual disability, Disproportionate short-trunk short stature, and Rhizomelic arm shortening and others. 100 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 18 |
DYM encodes dymeclin (669 aa). Necessary for correct organization of Golgi apparatus. Involved in bone development Highest expression in Ovary (30.6 TPM) and Artery Tibial (29.4 TPM).
Dyggve-Melchior-Clausen disease is associated with mutations in the DYM gene on chromosome 18.
DYM is classified as a druggable target with score 0.0.
Genetic testing for DYM is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 7 always present features, 6 very common features, 40 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Dyggve-Melchior-Clausen disease.
8 publications have been identified in PubMed for Dyggve-Melchior-Clausen disease. Research spans Case Report / Case Series (75%), Review / Meta-Analysis (13%), and Basic Science / Preclinical (13%).
Halis M (2026). [PMID: 41549465](https://pubmed.ncbi.nlm.nih.gov/41549465/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]
Owrang D (2026). [PMID: 41092388](https://pubmed.ncbi.nlm.nih.gov/41092388/). *QJM*. [Case Report / Case Series]
Reyes-Silva C (2025). [PMID: 40428312](https://pubmed.ncbi.nlm.nih.gov/40428312/). *Genes (Basel)*. [Case Report / Case Series]
Alquraishi AS (2025). [PMID: 40092007](https://pubmed.ncbi.nlm.nih.gov/40092007/). *Cureus*. [Case Report / Case Series]
Yacoubian V (2024). [PMID: 38741921](https://pubmed.ncbi.nlm.nih.gov/38741921/). *Arthroplast Today*. [Review / Meta-Analysis]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:11 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Dyggve-Melchior-Clausen disease
Brain and nerves | 11 | Intellectual disability, Absent speech, Waddling gait |
Muscles | 4 | Limitation of joint mobility, Limb muscle weakness, Frequent falls |
Head and neck | 4 | Coarse facial features, Microcephaly, Hypoplastic facial bones |
Growth and development | 4 | Postnatal growth retardation, Disproportionate short-trunk short stature, Severe short stature |
Arms and legs | 4 | Broad foot, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand |
Lungs and breathing | 2 | Difficulty breathing due to muscle weakness (respiratory insufficiency due to muscle weakness), Recurrent upper respiratory tract infections |
Digestive system | 1 | Abdominal distention |
Blood and immune system | 1 | Recurrent upper respiratory tract infections |
Chavan S (2024). [PMID: 39416591](https://pubmed.ncbi.nlm.nih.gov/39416591/). *Cureus*. [Case Report / Case Series]
Akalın A (2024). [PMID: 38860472](https://pubmed.ncbi.nlm.nih.gov/38860472/). *Am J Med Genet A*. [Basic Science / Preclinical]