The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: an update and review

Am J Med Genet A. 2008 Jan 1;146A(1):83-92. doi: 10.1002/ajmg.a.31998.


Hunter-MacDonald syndrome (HMS) is a rare, autosomal dominant skeletal dysplasia with multiple malformations. The skeletal manifestations of HMS include short stature, scoliosis, epiphyseal dysplasia with early osteoarthritis leading to joint replacement, prominent humeral insertions for the deltoids, camptodactyly, subluxation of the thumbs, and malformed feet. Craniofacial manifestations include normal head circumference, tall forehead, bitemporal narrowing, ptosis, short palpebral fissures, and short philtrum. Decreased hearing acuity, transient cranial nerve palsies, congenital heart defects, and meningioma are also reported. Herein, we present two cases, and, through review of the manifestations of HMS in affected and at-risk family members, we have observed that predisposition to brain tumor is a cardinal feature of this condition.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adult
  • Child
  • Female
  • Genes, Dominant
  • Hearing Loss / genetics
  • Hearing Loss / physiopathology
  • Humans
  • Male
  • Meningeal Neoplasms / genetics*
  • Meningeal Neoplasms / pathology
  • Meningeal Neoplasms / surgery
  • Meningioma / diagnosis
  • Meningioma / genetics*
  • Pedigree
  • Phenotype*
  • Radiography
  • Risk Factors
  • Syndrome