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Condition report · Musculoskeletal

Bent Bone Dysplasia Syndrome (FGFR2)

A very rare and severe skeletal condition present before birth, with bent long bones and changes to the skull. It is caused by a change in one copy of the FGFR2 gene.

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The condition we analyse

Bent Bone Dysplasia Syndrome 1

Autosomal dominant

Caused by specific changes in one copy of FGFR2, a growth factor receptor that controls bone formation. The reported changes increase the receptor's targeting to the nucleolus and delay the differentiation of bone-forming cells.

Signs and symptoms

Bowed long bones, which give the condition its name, along with other skeletal and skull changes.

What a diagnosis changes

Care is supportive or palliative depending on severity. Genetic counselling is recommended, as recurrence risk depends on whether the change is inherited from a parent.

Genes analysed

Also known as

BBDS; bent bone dysplasia (BBD)-FGFR2 type; bent bone dysplasia syndrome; FGFR2-related bent bone dysplasia; perinatal lethal bent bone dysplasia

MONDO:0013815OMIM 614592Orphanet 313855MedGen 482877Sources: [1][2]

References

  1. Neben CL, Tuzon CT, Mao X, Lay FD, Merrill AE, 2018. FGFR2 mutations in bent bone dysplasia syndrome activate nucleolar stress and perturb cell fate determination. Human molecular genetics
  2. FGFR2 gene. MedlinePlus Genetics

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