Synonym(s): (no synonyms)
Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		External references: 2 OMIM references - See 1 MeSH reference: C535726
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
DYM	Q7RTS9	607461

- Autosomal recessive inheritance
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Epiphyseal anomaly
- Genu valgum
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Metaphyseal anomaly
- Pectus carinatum
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Platyspondyly
- Rhizomelic micromelia
- Short rib cage / thorax
- Short stature / dwarfism / nanism

- Coarse face
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Kyphosis
- Lordosis
- Metacarpal anomalies / Archibald's sign
- Microcephaly
- Odontoid hypoplasia
- Rachidian / spine canal stenosis
- Restricted joint mobility / joint stiffness / ankylosis
- Scoliosis
- Short neck
- Sloping forehead
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Wrist / carpal anomalies

- Autism / autistic disoders
- Hyperactivity / attention deficit
- Shoulder dislocation