Spondyloepiphyseal dysplasia Maroteaux type
Alternate names
Brachyolmia Maroteaux type; Brachyolmia type 2; SED, Maroteaux type; Pseudo-Morquio syndrome type 2; Spondyloepiphyseal dysplasia, Maroteaux type
Definition
Spondyloepiphyseal dysplasia (SED) Maroteaux type is a rare skeletal dysplasia that is characterized by short stature beginning in infancy, short, stubby hands and feet, and genu valgum (knock knees).
Cause
SED Maroteaux type is caused by mutations in the TRPV4 gene.
Inheritance
It is inherited any an autosomal dominant fashion.
Signs and symptoms
- It is characterized by short stature beginning in infancy, short, stubby hands and feet, and genu valgum (knock knees).
- In addition to these physical characteristics, individuals with SED Maroteaux type have some common radiographic findings, including platyspondyly (flattened vertebral bodies in the spine), abnormalities of the pelvis and severe brachydactyly (short fingers and toes).
- Intelligence is generally normal and there is no clouding of the cornea, which distinguishes SED Maroteaux type from other forms of spondyloepiphyseal dysplasia.
Diagnosis
Treatment
NIH genetic and rare disease info
Spondyloepiphyseal dysplasia Maroteaux type is a rare disease.
Resources
Frequently asked questions
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