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Metatropic dysplasia
1 OMIM reference -
1 associated gene
11 connected diseases
26 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
Parastremmatic dwarfism
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):
- Metatropic dwarfism
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: any age
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C537356
Gene symbol UniProt reference OMIM reference
TRPV4 Q9HBA0605427
Very frequent
- Abnormal vertebral size / shape
- Abnormal / absent ossification
- Anomalies of the ribs
- Autosomal recessive inheritance
- Cortical anomaly / thick bone cortical layer
- Depressed nasal bridge
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- High forehead
- Intervertebral disk anomaly
- Kyphosis
- Long rib cage / thorax
- Metaphyseal anomaly
- Narrow rib cage / thorax
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Restricted joint mobility / joint stiffness / ankylosis
- Rough trabeculation of bone
- Scoliosis
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism

Occasional
- Camptodactyly of fingers
- Cataract / lens opacification
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Clinodactyly of fifth finger
- Hydrocephaly
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Low set ears / posteriorly rotated ears