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last update : 16-03-2011
Symbol METTD
Location 12q24.11
Name metatropic dysplasia
Corresponding gene TRPV4
Other symbol(s) MD
Main clinical features
  • nonlethal dominant form, with shortened limbs and a long, narrow trunk in the newborn period that evolves into a severe, progressive kyphoscoliosis
  • distinctive facies with a prominent forehead and squared-off jaw, a high incidence of odontoid hypoplasia, cervical myelopathy, stenosis leading to significant neurologic sequelae
  • radiographic findings in metatropic dysplasia are characteristic and include wafer-like vertebral bodies in newborns, a halberd-shaped pelvis, irregular calcanei and tali, brachydactyly with delayed carpal ossification, and flared or “mushroomed” proximal and distal metaphyses of the femora leading to a “dumbbell-shaped bone
  • Genetic determination autosomal recessive
    autosomal dominant
    Related entries including metatropic dwarfism (OMIM: 250600)
    Function/system disorder osteo-articular
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    various types     P799 in exon 15 is a hot codon for MD mutations PMID: 20577006