Floating Harbor Syndrome

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Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Floating-Harbor syndrome is a rare congenital form of dwarfism with facial abnormalities and delayed language development.

Synonyms are:

  • Floating harbor short stature
  • Pelletier-Leisti syndrome according to the authors of the first description from 1973 by the American paediatricians and geneticists G. Pelletier and M. Feingold .
  • Leisti-Hollister-Rimoin syndrome according to the authors of a report from 1975.

The naming refers to the hospitals with the patients described Boston Floating Hospital and Harbor Hospital in California.

distribution

The cause is not known. The disease usually occurs sporadically, but there have also been cases with autosomal dominant inheritance.

The frequency is given as less than 1: 1,000,000.

clinic

Diagnostic clinical criteria are:

  • Short stature with final size at 140 cm
  • Triangular face with a large nose with a broad bridge of the nose, a short upper lip, a strong chin and deep-set eyes.
  • Pronounced delay in language development

Sometimes hirsutism , clinobrachydactyly hyperextensible joints and numerous other abnormalities.

diagnosis

The x-ray always shows a clearly delayed bone age .

Differential diagnosis

In terms of differential diagnosis, the Silver-Russell syndrome , 3M syndrome , Rubinstein-Taybi syndrome and microdeletion syndrome 22q11 , but also the SHORT syndrome, must be differentiated.

therapy

A causal treatment is not possible; treatment with growth hormones may be promising.

literature

  • SM Nikkel, A. Dauber, S. de Munnik, M. Connolly, RL Hood et al .: The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. In: Orphanet Journal of Rare Diseases. [electronic publication before printing] Issue 1, April 2013, ISSN  1750-1172 . doi : 10.1186 / 1750-1172-8-63 . PMID 23621943 . PMC 3659005 (free full text).

Individual evidence

  1. ↑ G. Pelletier, M. Feingold: Case report 1. in: D. Bergsma (editor): Syndrome Identification. 1973, White Plains, New York, pp. 1: 8-9
  2. ↑ J. Leisti, DW Hollister, DL Rimoin: The Floating-Harbor syndrome. In: Birth defects original article series. Volume 11, number 5, 1975, p. 305, ISSN  0547-6844 . PMID 1218224 .
  3. ↑ a b c B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9
  4. ↑ a b c d e Floating Harbor Syndrome. In: Orphanet (Rare Disease Database).
  5. ↑ SM White, A. Morgan, A. Da Costa, D. Lacombe, SJ Knight, R. Houlston, ML Whiteford, RA Newbury-Ecob, JA Hurst: The phenotype of Floating-Harbor syndrome in 10 patients. In: American journal of medical genetics. Part A. Volume 152A, Number 4, April 2010, pp. 821-829, ISSN  1552-4833 . doi : 10.1002 / ajmg.a.33294 . PMID 20358590 .

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