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Pseudoachondroplasia

1 OMIM reference -
1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Achondrogenesis type 2

1 OMIM reference -
1 associated gene
25 signs/symptoms

Pseudoachondroplasia

Achondrogenesis type 2

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Pseudoachondroplasia		Achondrogenesis type 2
	Synonym(s): - Pseudoachondroplastic dysplasia - Pseudoachondroplastic spondyloepiphyseal dysplasia		Synonym(s): - Achondrogenesis, Langer-Saldino 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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C535819		External references: 1 OMIM reference - 1 MeSH reference: C536017


COMMON SIGNS	- Autosomal dominant inheritance - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism

Pseudoachondroplasia		Achondrogenesis type 2
	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 - Metaphyseal anomaly - 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 - Scoliosis - Short foot / brachydactyly of toes Occasional - Genu valgum - Genu varum - Kyphosis - Odontoid hypoplasia		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 - Hydrops fetalis - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Long philtrum - Macrocephaly / macrocrania / megalocephaly / megacephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow rib cage / thorax - Short neck - Short rib cage / thorax - Short / small nose - Stillbirth / neonatal death Frequent - Inguinal / inguinoscrotal / crural hernia - Polyhydramnios - Umbilical hernia Occasional - Congenital cardiac anomaly / malformation / cardiopathy - Cystic hygroma - Postaxial polydactyly (hand)