A report of an apparent new genetic syndrome consisting of joint contractures, keloids, large optic cup-to-disc ratio and renal stones

Candy A. Heyen, Paula R. Delk, Marilyn J. Bull, David D. Weaver

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

We report on a family with an apparently undescribed syndrome involving joint contractures, keloids, an increased optic cup-to-disc ratio, and renal stones. The propositus presented at 9 years of age with congenital contractures of his distal interphalangeal (DIP) joints, progressive stiffness of the shoulders and neck, a large optic cup-to-disc ratio, and mildly dysmorphic facies. He otherwise has been normal. The propositus's brother, uncle, great-uncle, a half great-uncle, and six male half-cousins once removed also have DIP joint stiffness. The propositus' mother and brother also have an increased optic cup-to-disc ratio. In addition, the great-grandfather, the uncle, the same six male half-cousins once removed, and an affected daughter of a half-cousin have keloids with the earliest age of onset of the keloids being 12 years. Further, three of the above affected males have had uric acid renal stones. Dupuytren contractures and subcutaneous nodules were also present in some affected males. Given the family history, the pattern of inheritance appears to be X-linked. An extensive literature search failed to reveal any previous reports associating these manifestations and this inheritance pattern. Therefore, we think the condition in this family comprises a new genetic syndrome.

Original languageEnglish (US)
Pages (from-to)3120-3125
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number24
DOIs
StatePublished - Dec 15 2008

Keywords

  • Contracture
  • Keloid
  • New syndrome
  • Uric acid kidney stones
  • X-linked

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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