Metatropic dwarfism
Overview
Metatropic dwarfism is a severe skeletal dysplasia characterized by extremely small stature with short arms and legs. Other characteristics of this disorder are a narrow thorax, short ribs, and kyphoscoliosis (backward and sideways curvature of the spinal column) which develops into short trunk dwarfism. This condition, caused by mutations in the TRPV4 gene, may be inherited in either an autosomal dominant or autosomal recessive manner.
Symptoms
The list of signs and symptoms mentioned in various sources for Metatropic dwarfism includes the 18 symptoms listed below:
- Kyphoscoliosis
- Short trunk
- Short stature
- Platyspondyly
- Progressive kyphosis
- Scoliosis - infant onset
- Odontoid hypoplasia
- C1-C2 subluxation
- Narrow thorax
- Short ribs
- Short limbs
- Prominent joints
- Restricted knee mobility
- Restricted hip mobility
- Hyperextensibile finger joints
- Hypoplasia of basilar pelvis
- Horizontal acetabula
- Squared iliac wings
Note that Metatropic dwarfism symptoms usually refers to various symptoms known to a patient, but the phrase Metatropic dwarfism signs may refer to those signs only noticable by a doctor.
Causes
Metatropic dwarfism is caused by mutations in the TRPV4 gene.
Diagnosis
The Genetic Testing Registry (GTR)
Provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.