ODCs

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1 OMIM reference -
1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6

1 OMIM reference -
1 associated gene
13 signs/symptoms

Platyspondylic dysplasia, Torrance type

Multiple epiphyseal dysplasia type 1


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL2A1	(0.52)	COMP

Citations in the biomedical literature:

Platyspondylic dysplasia, Torrance type		Multiple epiphyseal dysplasia type 1
	Synonym(s): - PLSD-T - Platyspondylic dysplasia, Torrance-Luton type - Platyspondylic lethal skeletal dysplasia, Torrance type		Synonym(s): - EDM1 - MED1 - Polyepiphyseal dysplasia type 1

	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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535501


COMMON SIGNS	- Autosomal dominant inheritance - Epiphyseal anomaly - Genu varum - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism

Platyspondylic dysplasia, Torrance type		Multiple epiphyseal dysplasia type 1
	Very frequent - Bowed diaphysis / diaphyses / long bones - Metacarpal anomalies / Archibald's sign - Metaphyseal anomaly - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Short foot / brachydactyly of toes - Short rib cage / thorax - Terminal / third phalangeal bone of fingers hypoplasia Frequent - Depressed nasal bridge - 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		Very frequent - Osteoarthritis Frequent - Abnormal gait - Articular / joint pain / arthralgia - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Joint / articular deformation - Restricted joint mobility / joint stiffness / ankylosis Occasional - Genu valgum