ODCs

Click node...

1 OMIM reference -
1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 15

1 OMIM reference -
1 associated gene
25 signs/symptoms

Pseudoachondroplasia

Spondyloepimetaphyseal dysplasia congenita, Strudwick type


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

Citations in the biomedical literature:

Pseudoachondroplasia		Spondyloepimetaphyseal dysplasia congenita, Strudwick type
	Synonym(s): - Pseudoachondroplastic dysplasia - Pseudoachondroplastic spondyloepiphyseal dysplasia		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

	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	- Abnormal gait - Autosomal dominant inheritance - Epiphyseal anomaly - Genu valgum - Genu varum - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Kyphosis - Lordosis - Metaphyseal anomaly - Odontoid hypoplasia - Osteoarthritis - Platyspondyly - Scoliosis - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism

Pseudoachondroplasia		Spondyloepimetaphyseal dysplasia congenita, Strudwick type
	Very frequent - Bowed diaphysis / diaphyses / long bones - Delayed bone age - Metacarpal anomalies / Archibald's sign - Short hand / brachydactyly - Wrist / carpal anomalies Frequent - Articular / joint pain / arthralgia - Hyperextensible joints / articular hyperlaxity - Restricted joint mobility / joint stiffness / ankylosis - Short foot / brachydactyly of toes		Very frequent - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Short rib cage / thorax Frequent - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Flat face - Hypertelorism - Myopia - Retinal detachment Occasional - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Talipes-varus / metatarsal varus