A Rare Case of Hanhart Syndrome with Mild Developmental Delay

Genet Couns. 2016;27(2):219-22.

Abstract

Hanhart Syndrome (OMIM 103300) is an extremely rare syndrome with some congenital malformations. It is characterized by hypoglossia, adactylia/hypodactylia, peromelia of arms and/or legs and micrognathia. The severity of the symptoms can differ from patient to patient. Some affected individuals may have only a part of these clinical features. In this case report, we want to present a Turkish girl with hypoglossia, micrognathia and peromelia who was diagnosed according to the clinical and radiographic findings.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple* / pathology
  • Abnormalities, Multiple* / physiopathology
  • Child, Preschool
  • Craniofacial Abnormalities* / complications
  • Craniofacial Abnormalities* / pathology
  • Craniofacial Abnormalities* / physiopathology
  • Developmental Disabilities / etiology
  • Developmental Disabilities / physiopathology*
  • Female
  • Fingers / abnormalities*
  • Fingers / pathology
  • Humans
  • Jaw Abnormalities / etiology
  • Jaw Abnormalities / pathology*
  • Limb Deformities, Congenital / complications
  • Limb Deformities, Congenital / etiology
  • Limb Deformities, Congenital / pathology*
  • Limb Deformities, Congenital / physiopathology
  • Mandible / abnormalities*
  • Mandible / pathology
  • Tooth Abnormalities / etiology
  • Tooth Abnormalities / pathology*

Supplementary concepts

  • Hanhart syndrome
  • Hypoglossia-Hypodactylia