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Dysspondyloenchondromatosis

1 associated gene
22 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 3

Platyspondylic dysplasia, Torrance type

1 OMIM reference -
1 associated gene
24 signs/symptoms

Dysspondyloenchondromatosis

Platyspondylic dysplasia, Torrance type

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	COL2A1

Citations in the biomedical literature:

Dysspondyloenchondromatosis		Platyspondylic dysplasia, Torrance type
	Synonym(s): (no synonyms)		Synonym(s): - PLSD-T - Platyspondylic dysplasia, Torrance-Luton type - Platyspondylic lethal skeletal dysplasia, Torrance 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: unknown Average age onset: neonatal/infancy 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 - Platyspondyly - Short stature / dwarfism / nanism

Dysspondyloenchondromatosis		Platyspondylic dysplasia, Torrance 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 - Joint / articular deformation - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Scoliosis - Vascular anomalies of skin / mucosae - Vertebral segmentation anomaly / hemivertebrae Frequent - Delayed bone age - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Genu valgum - Osteoarthritis - 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 - Bowed diaphysis / diaphyses / long bones - Epiphyseal anomaly - Metacarpal anomalies / Archibald's sign - Metaphyseal anomaly - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Short rib cage / thorax - Terminal / third phalangeal bone of fingers hypoplasia Frequent - Depressed nasal bridge - Genu varum - Hydrops fetalis - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Low set ears / posteriorly rotated ears - Mid-facial hypoplasia / short / small midface - Polyhydramnios - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Stillbirth / neonatal death Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula