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Spondylometaphyseal dysplasia, Kozlowski type
1 OMIM reference -
1 associated gene
11 connected diseases
22 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
Parastremmatic dwarfism
Spondyloepiphyseal dysplasia, Maroteaux 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: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C535797
Gene symbol UniProt reference OMIM reference
TRPV4 Q9HBA0605427
Very frequent
- Abnormal gait
- Autosomal dominant inheritance
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Metaphyseal anomaly
- Platyspondyly
- Short rib cage / thorax
- Short stature / dwarfism / nanism

Frequent
- Delayed bone age
- Depressed nasal bridge
- Genu valgum
- High forehead
- Joint / articular deformation
- Kyphosis
- Pectus carinatum
- Restricted joint mobility / joint stiffness / ankylosis
- Scoliosis
- Short hand / brachydactyly
- Short neck

Occasional
- Clavicle absent / abnormal
- Epiphyseal anomaly
- Narrow rib cage / thorax
- Odontoid hypoplasia