ODCs

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1 OMIM reference -
1 associated gene
25 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 9

1 OMIM reference -
1 associated gene
24 signs/symptoms

Achondrogenesis type 2

Platyspondylic dysplasia, Torrance type

Citations in the biomedical literature:

Achondrogenesis type 2		Platyspondylic dysplasia, Torrance type
	Synonym(s): - Achondrogenesis, Langer-Saldino type		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: unknown Average age onset: neonatal/infancy 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: C536017		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Hydrops fetalis - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Narrow rib cage / thorax - Polyhydramnios - Short limbs / micromelia / brachymelia - Short rib cage / thorax - Short stature / dwarfism / nanism - Stillbirth / neonatal death

Achondrogenesis type 2		Platyspondylic dysplasia, Torrance type
	Very frequent - Abnormal / absent ossification - Anteverted nares / nostrils - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Excess nuchal skin without pterygium colli - Flat face - Frontal bossing / prominent forehead - Long philtrum - Macrocephaly / macrocrania / megalocephaly / megacephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Short neck - Short / small nose Frequent - Inguinal / inguinoscrotal / crural hernia - Umbilical hernia Occasional - Congenital cardiac anomaly / malformation / cardiopathy - Cystic hygroma - Postaxial polydactyly (hand)		Very frequent - Bowed diaphysis / diaphyses / long bones - Epiphyseal anomaly - Metacarpal anomalies / Archibald's sign - Metaphyseal anomaly - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Short foot / brachydactyly of toes - Short hand / brachydactyly - Terminal / third phalangeal bone of fingers hypoplasia Frequent - Depressed nasal bridge - Genu varum - Low set ears / posteriorly rotated ears - Mid-facial hypoplasia / short / small midface - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula