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Pseudoachondroplasia
1 OMIM reference -
1 associated gene
24 connected diseases
24 signs/symptoms
Disease Type of connection
Multiple epiphyseal dysplasia type 1
Multiple epiphyseal dysplasia type 5
Spondyloepimetaphyseal dysplasia, matrilin-3 type
Achondrogenesis type 2
Autosomal dominant rhegmatogenous retinal detachment
Autosomal recessive Stickler syndrome
Czech dysplasia, metatarsal type
Dysspondyloenchondromatosis
Familial avascular necrosis of femoral head
Fibronectin glomerulopathy
Hypochondrogenesis
Kniest dysplasia
Legg-Calvé-Perthes disease
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia due to collagen 9 anomaly
Multiple epiphyseal dysplasia, Beighton type
Otospondylomegaepiphyseal dysplasia
Platyspondylic dysplasia, Torrance type
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondyloperipheral dysplasia - short ulna
Stickler syndrome type 1
Synonym(s):
- Pseudoachondroplastic dysplasia
- Pseudoachondroplastic spondyloepiphyseal dysplasia
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
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
External references:
1 OMIM reference -
1 MeSH reference: C535819
Gene symbol UniProt reference OMIM reference
COMP P49747600310
Very frequent
- Autosomal dominant inheritance
- 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
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism
- 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