Program Nr: 749

Floating- Harbor syndrome - further characterization of the phenotype. S. Ala-Mello1, M. Peippo2. 1) Dept Medical Genetics, University of Helsinki, Helsinki, Finland; 2) Dept Medical Genetics, The Family Federation of Helsinki, Helsinki, Finland.

   The Floating-Harbor syndrome (F-HS) is a rare syndrome first described in 1973. Since then about twenty cases have been reported. The F-HS is characterised by disturbance in speech development, especially in expressive sppech, characteristic dysmorphic faces and short stature.
   We report a second Finnish patient, a 6-year old girl, with the F-HS. Cleft palate was detected at birth. Speech development has been slow, and she spoke single words at 1 year and 8 months of age and sentences of a couple of words at 2 years of age. Her voice has been hypernasal. She walked unaided at 1 year and 10 months of age. Her height has been -2.5SD and at the time of investigation at 6 years of age it was -1.8SD. Her facial features are characteristic to the F-HS, and we represent photographs showing them and give more detailed data. All etiologic studies have been normal.
   None of the earlier patients with the F-HS have had cleft palate. Five of them, including our first patient, have been described to have immobile palate, nasal speech, palatal insufficiency or hypernasality. We suggest that cleft palate represents one end of the wide spectrum of palatal insufficiency in the F-HS. Thus, the F-HS can be seen as one of the orofacial clefting syndromes.