Cytoscape Web
Click node...

Parastremmatic dwarfism
1 OMIM reference -
1 associated gene
11 connected diseases
25 signs/symptoms
Disease Type of connection
Autosomal dominant Charcot-Marie-Tooth disease type 2C
Autosomal dominant brachyolmia
Autosomal dominant congenital benign spinal muscular atrophy
Familial digital arthropathy-brachydactyly
Metatropic dysplasia
Spondyloepiphyseal dysplasia, Maroteaux type
Spondylometaphyseal dysplasia, Kozlowski type
Syndromic multisystem autoimmune disease due to Itch deficiency
Severe combined immunodeficiency due to LCK deficiency
Catecholaminergic polymorphic ventricular tachycardia
Hereditary cerebral cavernous malformation
Synonym(s):
(no synonyms)
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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C537172
Gene symbol UniProt reference OMIM reference
TRPV4 Q9HBA0605427
Very frequent
- Abnormal gait
- Autosomal dominant inheritance
- Bowed diaphysis / diaphyses / long bones
- Epiphyseal anomaly
- Genu valgum
- Kyphosis
- Lack / delayed ossification of spine / vertebrae
- Metaphyseal anomaly
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Platyspondyly
- Restricted joint mobility / joint stiffness / ankylosis
- Rib structure anomalies
- Rough trabeculation of bone
- Scoliosis
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Short neck
- Short stature / dwarfism / nanism

Frequent
- Brachycephaly / flat occiput
- Frontal bossing / prominent forehead
- Genu varum
- High forehead
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Pectus carinatum