ODCs

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1 OMIM reference -
1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
3 signs/symptoms

Platyspondylic dysplasia, Torrance type

Hyaluronidase deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL2A1	(0.63)	HYAL1

Citations in the biomedical literature:

Platyspondylic dysplasia, Torrance type		Hyaluronidase deficiency
	Synonym(s): - PLSD-T - Platyspondylic dysplasia, Torrance-Luton type - Platyspondylic lethal skeletal dysplasia, Torrance type		Synonym(s): - Mucopolysaccharidosis type 9

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare bone disease - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: <1 / 1 000 000 Average age onset: childhood Average age of death: no data available Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Short stature / dwarfism / nanism

Platyspondylic dysplasia, Torrance type		Hyaluronidase deficiency
	Very frequent - Autosomal dominant inheritance - 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 - Platyspondyly - 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		Very frequent - Autosomal recessive inheritance - Subcutaneous nodules / lipomas / tumefaction / swelling