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Dyggve-Melchior-Clausen disease

2 OMIM references -
1 associated gene
30 signs/symptoms

COMMON GENES: 1

Smith-McCort dysplasia

2 OMIM references -
2 associated genes
No signs/symptoms info

Dyggve-Melchior-Clausen disease

Smith-McCort dysplasia

DYM	(UniProt - OMIM)		DYM	(UniProt - OMIM)
			RAB33B	(UniProt - OMIM)


COMMON GENES	DYM

Citations in the biomedical literature:

Dyggve-Melchior-Clausen disease		Smith-McCort dysplasia

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

	External references: 2 OMIM references - 1 MeSH reference: C535726		External references: 2 OMIM references - No MeSH references

Dyggve-Melchior-Clausen disease
	Very frequent - 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 Frequent - 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 Occasional - Autism / autistic disoders - Hyperactivity / attention deficit - Shoulder dislocation
Smith-McCort dysplasia
(no data available)