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Dysspondyloenchondromatosis

1 associated gene
22 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 5

Spondylometaphyseal dysplasia, Schmidt type

1 OMIM reference -
1 associated gene
11 signs/symptoms

Dysspondyloenchondromatosis

Spondylometaphyseal dysplasia, Schmidt type

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	COL2A1

Citations in the biomedical literature:

Dysspondyloenchondromatosis		Spondylometaphyseal dysplasia, Schmidt type
	Synonym(s): (no synonyms)		Synonym(s): - Spondylometaphyseal dysplasia with severe genu valgum - Spondylometaphyseal dysplasia, Algerian type

	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): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

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

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


COMMON SIGNS	- Autosomal dominant inheritance - Genu valgum - Joint / articular deformation - Scoliosis - Short stature / dwarfism / nanism

Dysspondyloenchondromatosis		Spondylometaphyseal dysplasia, Schmidt type
	Very frequent - Anomalies of cartilages, joints and periarticular tissue - Anomalies of spine, vertebrae and pelvis - Autosomal recessive inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Exostoses - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Vascular anomalies of skin / mucosae - Vertebral segmentation anomaly / hemivertebrae Frequent - Delayed bone age - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Osteoarthritis - Platyspondyly - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray Occasional - Bone / osseous neoplasm / tumor / carcinoma / cancer - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Intellectual deficit / mental / psychomotor retardation / learning disability - Intracranial / cerebral calcifications		Very frequent - Kyphosis - Metaphyseal anomaly - Myopia - Short limbs / micromelia / brachymelia Frequent - Abnormal vertebral size / shape - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality