Two more diagnostic signs in the Floating-Harbor syndrome

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S Ala-Mello1, M Peippo

  • 1Department of Medical Genetics, Family Federation of Finland, Helsinki.

Clinical Dysmorphology
|January 1, 1996
PubMed

Insights

Floating-Harbor syndrome (F-HS) may present with a high-pitched voice and extra incisor. This rare genetic disorder also shows a higher incidence of coeliac disease in affected individuals.

Area of Science:

  • Genetics
  • Pediatrics
  • Clinical Medicine

Background:

  • Floating-Harbor syndrome (F-HS) is a rare genetic disorder.
  • Characterized by distinctive facial features, developmental delays, and short stature.
  • Previously reported cases are sporadic.

Observation:

  • A 6-year-old boy with F-HS presented with unique symptoms.
  • He exhibited an exceptionally high-pitched voice and a supernumerary upper incisor.
  • Facial features and delayed speech development were characteristic, though his short stature was milder than typical.

Findings:

  • The patient had elevated gliadin antibody levels, suggesting coeliac disease.
  • Coeliac disease has been noted in 3 of 15 previously reported F-HS patients.
  • The high-pitched voice and supernumerary incisor are proposed as additional diagnostic markers for F-HS.

Implications:

  • These findings may aid in the earlier diagnosis of Floating-Harbor syndrome.
  • Highlights the potential association between F-HS and coeliac disease.
  • Further research could refine diagnostic criteria and understanding of F-HS comorbidities.

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