Frontometaphyseal dysplasia

How might frontometaphyseal dysplasia be inherited?

FMD may be inherited in a X-linked manner when it is caused by mutations in the FLNA gene. This means that if a parent of a patient with frontometaphyseal dysplasia (FMD) has the FLNA mutation, the chance of transmitting the mutation in each pregnancy is 50%. When the mother has an FLNA mutation, males who inherit the mutation will be affected; females who inherit the mutation may have some features. Males with FMD transmit the disease-causing mutation to all of their daughters and none of their sons. FMD type 2, caused by mutations in the gene MAP3K7, is inherited in an autosomal dominant manner.

Last updated on 05-01-20

How might frontometaphyseal dysplasia be treated?

Treatment depends on the symptoms present in the person, and may include:

  • Hearing loss aids for deafness
  • Surgery to correct the facial deformities including the frontal deformity
  • Surgery to correct the joint contractures, the limb bowing, and the scoliosis.

Last updated on 05-01-20

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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