Acrocapitofemoral dysplasia: Novel mutation in IHH in two adult patients from the third family in the literature and progression of the disease

Eur J Med Genet. 2021 Nov;64(11):104343. doi: 10.1016/j.ejmg.2021.104343. Epub 2021 Sep 14.

Abstract

Acrocapitofemoral dysplasia (ACFD) is a rare autosomal recessive skeletal dysplasia characterized by short stature with short limb dwarfism, brachydactyly, and a narrow thorax. Major radiographic features are egg-shaped capital femoral epiphyses with a short femoral neck and cone-shaped epiphyses, mainly in the hands and hips. To date, only four child patients from two families have been reported. We describe two adult patients with ACFD with a novel homozygous c.478C>T (p.Arg160Cys) mutation in IHH in the third family of the literature. The reported cases showed a middle phalanges which fused with distal phalanges in the fifth toes, the typical configuration of metacarpals, radial angulation and extremely short femoral neck. These findings could help the diagnosis of ACFD in adult patients. We hope that this new family will be a helpful guide for predicting and managing the prognosis of diagnosed children.

Keywords: Acrocapitofemoral dysplasia; Brachydactyly; IHH; Indian hedgehog; Novel mutation.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bone Diseases, Developmental / genetics*
  • Bone Diseases, Developmental / pathology
  • Brachydactyly / genetics*
  • Brachydactyly / pathology
  • Disease Progression
  • Epiphyses / abnormalities
  • Female
  • Femur / abnormalities*
  • Femur / pathology
  • Femur Neck / abnormalities
  • Finger Phalanges / abnormalities
  • Growth Disorders / genetics*
  • Growth Disorders / pathology
  • Hedgehog Proteins / genetics*
  • Humans
  • Mutation, Missense
  • Pedigree
  • Toe Phalanges / abnormalities

Substances

  • Hedgehog Proteins
  • IHH protein, human

Supplementary concepts

  • Acrocapitofemoral Dysplasia