ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 7

1 OMIM reference -
1 associated gene
24 signs/symptoms

Spondyloperipheral dysplasia - short ulna

Platyspondylic dysplasia, Torrance type

Citations in the biomedical literature:

Spondyloperipheral dysplasia - short ulna		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): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: - 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: 1 OMIM reference - 1 MeSH reference: C535799		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Metacarpal anomalies / Archibald's sign - Metaphyseal anomaly - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism

Spondyloperipheral dysplasia - short ulna		Platyspondylic dysplasia, Torrance type
	Very frequent - Abnormal vertebral size / shape - Cone epiphyses / epiphysis Frequent - Epiphyseal vertebral anomaly - Restricted joint mobility / joint stiffness / ankylosis - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray Occasional - Pectus carinatum		Very frequent - Bowed diaphysis / diaphyses / long bones - Epiphyseal anomaly - Narrow rib cage / thorax - Platyspondyly - Short foot / brachydactyly of toes - 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