GTR Home > Conditions/Phenotypes > Metatrophic dysplasia

Summary

Metatropic dysplasia (MD) is characterized by short limbs with limitation and enlargement of joints and usually severe kyphoscoliosis. Radiologic features include severe platyspondyly, severe metaphyseal enlargement, and shortening of long bones (Genevieve et al., 2008). [from OMIM]

Associated genes

  • Also known as: CMT2C, HMSN2C, OTRPC4, SMAL, SPSMA, SSQTL1, TRP12, VRL2, VROAC, TRPV4
    Summary: transient receptor potential cation channel, subfamily V, member 4

Clinical features

Help
  • High forehead
  • Short stature
  • Long thorax
  • Kyphosis
  • Anisospondyly
  • Low-set, posteriorly rotated ears
  • Platyspondyly
  • Cataract
  • Hydrocephalus
  • Cleft palate
  • Fetal akinesia sequence
  • Relatively short spine
  • Long coccyx
  • Caudal appendage
  • Halberd-shaped pelvis
  • Hyperplasia of the femoral trochanters
  • Dumbbell-shaped metaphyses
  • Absent primary metaphyseal spongiosa
  • Abnormal metaphyseal vascular invasion
  • Abnormality of the ribs
  • Narrow chest
  • Flexion contracture
  • Limitation of joint mobility
  • Abnormality of pelvic girdle bone morphology
  • Scoliosis
  • Skeletal dysplasia
  • Epiphyseal dysplasia
  • Flared femoral metaphysis
  • Respiratory failure
  • Micromelia
  • Abnormal cortical bone morphology
  • Abnormal form of the vertebral bodies
  • Abnormal enchondral ossification
  • Peripheral axonal neuropathy
  • Severe short stature
  • Flared humeral metaphysis
  • Clinodactyly of the 5th finger
  • Abnormality of bone mineral density
  • Abnormality of the intervertebral disk
  • Depressed nasal bridge
  • Aplasia/Hypoplasia of the lungs
  • Camptodactyly of finger
  • Rough bone trabeculation
Show all (43)

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Write to the Help Desk