ODCs

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1 OMIM reference -
1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 7

1 OMIM reference -
1 associated gene
11 signs/symptoms

Pseudoachondroplasia

Spondylometaphyseal dysplasia, Schmidt type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COMP	(0.52)	COL2A1

Citations in the biomedical literature:

Pseudoachondroplasia		Spondylometaphyseal dysplasia, Schmidt type
	Synonym(s): - Pseudoachondroplastic dysplasia - Pseudoachondroplastic spondyloepiphyseal dysplasia		Synonym(s): - Spondylometaphyseal dysplasia with severe genu valgum - Spondylometaphyseal dysplasia, Algerian 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: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal 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: C535819		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Genu valgum - Kyphosis - Metaphyseal anomaly - Scoliosis - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism

Pseudoachondroplasia		Spondylometaphyseal dysplasia, Schmidt type
	Very frequent - Bowed diaphysis / diaphyses / long bones - Delayed bone age - Epiphyseal anomaly - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Metacarpal anomalies / Archibald's sign - Short hand / brachydactyly - Wrist / carpal anomalies Frequent - Abnormal gait - Articular / joint pain / arthralgia - Hyperextensible joints / articular hyperlaxity - Lordosis - Osteoarthritis - Platyspondyly - Restricted joint mobility / joint stiffness / ankylosis - Short foot / brachydactyly of toes Occasional - Genu varum - Odontoid hypoplasia		Very frequent - Myopia Frequent - Abnormal vertebral size / shape - Joint / articular deformation - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality