ODCs

Cytoscape Web

Click node...

Platyspondylic dysplasia, Torrance type

1 OMIM reference -
1 associated gene
24 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 10

Kniest dysplasia

1 OMIM reference -
1 associated gene
38 signs/symptoms

Platyspondylic dysplasia, Torrance type

Kniest dysplasia

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	COL2A1

Citations in the biomedical literature:

Platyspondylic dysplasia, Torrance type		Kniest dysplasia
	Synonym(s): - PLSD-T - Platyspondylic dysplasia, Torrance-Luton type - Platyspondylic lethal skeletal dysplasia, Torrance type		Synonym(s): (no synonyms)

	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 - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic 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: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537207


COMMON SIGNS	- Autosomal dominant inheritance - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Depressed nasal bridge - Epiphyseal anomaly - Metaphyseal anomaly - Mid-facial hypoplasia / short / small midface - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Short rib cage / thorax - Short stature / dwarfism / nanism

Platyspondylic dysplasia, Torrance type		Kniest dysplasia
	Very frequent - Bowed diaphysis / diaphyses / long bones - Metacarpal anomalies / Archibald's sign - Narrow rib cage / thorax - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Terminal / third phalangeal bone of fingers hypoplasia Frequent - Genu varum - Hydrops fetalis - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Low set ears / posteriorly rotated ears - Polyhydramnios - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Stillbirth / neonatal death		Very frequent - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Joint / articular deformation - Kyphosis - Lordosis - Mesomelic micromelia - Myopia - Osteoarthritis - Restricted joint mobility / joint stiffness / ankylosis - Retinopathy - Rhizomelic micromelia - Scoliosis - Vitreous anomalies / hyalitis / persistent vitreous vascularisation - Wide rib cage / thorax Frequent - Hearing loss / hypoacusia / deafness - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Proptosis / exophthalmos - Retinal detachment - Round face Occasional - Cataract / lens opacification - Glaucoma - Glossoptosis - Lens dislocation / luxation / subluxation / ectopia lentis - Micrognathia / retrognathia / micrognathism / retrognathism - Ptosis - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Tracheal atresia / stenosis - Tracheomalacia / tracheobronchomalacia