Conditions / Genetic
spondyloepiphyseal dysplasia Maroteaux type
info · Genetic
An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in t
An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.
Signs and symptoms
- Short palm
- Short stature
- Generalized osteoporosis
- Short femoral neck
- Platyspondyly
- Genu valgum
- Spondyloepiphyseal dysplasia
- Short neck
- Kyphoscoliosis
- Pectus carinatum
Also known as: Brachyolmia Type 2; Pseudo-Morquio syndrome type 2; SED, Maroteaux type; spondyloepiphyseal dysplasia of Maroteaux