ODCs

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1 associated gene
22 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 7

1 OMIM reference -
1 associated gene
25 signs/symptoms

Dysspondyloenchondromatosis

Spondyloepimetaphyseal dysplasia congenita, Strudwick type

Citations in the biomedical literature:

Dysspondyloenchondromatosis		Spondyloepimetaphyseal dysplasia congenita, Strudwick 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 - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Genu valgum - Osteoarthritis - Platyspondyly - Scoliosis - Short stature / dwarfism / nanism

Dysspondyloenchondromatosis		Spondyloepimetaphyseal dysplasia congenita, Strudwick type
	Very frequent - Anomalies of cartilages, joints and periarticular tissue - Anomalies of spine, vertebrae and pelvis - Autosomal recessive inheritance - Exostoses - Joint / articular deformation - 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 - 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 - Epiphyseal anomaly - Lordosis - Metaphyseal anomaly - Short limbs / micromelia / brachymelia - Short rib cage / thorax Frequent - Abnormal gait - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Flat face - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypertelorism - Kyphosis - Myopia - Retinal detachment Occasional - Genu varum - Odontoid hypoplasia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Talipes-varus / metatarsal varus