ODCs

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1 OMIM reference -
1 associated gene
25 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 14

1 OMIM reference -
1 associated gene
22 signs/symptoms

Parastremmatic dwarfism

Spondylometaphyseal dysplasia, Kozlowski type

Citations in the biomedical literature:

Parastremmatic dwarfism		Spondylometaphyseal dysplasia, Kozlowski 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: <1 / 1 000 000 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: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C537172		External references: 1 OMIM reference - 1 MeSH reference: C535797


COMMON SIGNS	- Abnormal gait - Autosomal dominant inheritance - Epiphyseal anomaly - Genu valgum - High forehead - Kyphosis - Metaphyseal anomaly - Pectus carinatum - Platyspondyly - Restricted joint mobility / joint stiffness / ankylosis - Scoliosis - Short hand / brachydactyly - Short neck - Short stature / dwarfism / nanism

Parastremmatic dwarfism		Spondylometaphyseal dysplasia, Kozlowski type
	Very frequent - Bowed diaphysis / diaphyses / long bones - Lack / delayed ossification of spine / vertebrae - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Rib structure anomalies - Rough trabeculation of bone - Short foot / brachydactyly of toes Frequent - Brachycephaly / flat occiput - Frontal bossing / prominent forehead - Genu varum - Lower limb asymmetry / hemiatrophy / hemihypertrophy		Very frequent - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Short rib cage / thorax Frequent - Delayed bone age - Depressed nasal bridge - Joint / articular deformation Occasional - Clavicle absent / abnormal - Narrow rib cage / thorax - Odontoid hypoplasia