Biemond syndrome II

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The Biemond syndrome II is a very rare congenital disease with the main features of mental retardation , obesity and iris coloboma .

Synonyms are: hypogonadism-short stature-coloboma-preaxial polydactyly syndrome

The name refers to the author of the first description from 1934 by the neurologist Arie Biemond.

Not to be confused is the Biemond syndrome (brachydactyly - nystagmus - cerebellar ataxia) or the Biemond ataxia

distribution

The frequency is given as less than 1 in 1,000,000, the inheritance is presumably autosomal - recessive .

root cause

The cause is not yet known.

Clinical manifestations

Clinical criteria are:

In addition, hydrocephalus and facial dysmorphism can occur.

Differential diagnosis

The clinically similar Laurence-Moon-Biedl-Bardet syndrome and Alström syndrome must be distinguished .

literature

  • A. Verloes, IK Temple, S. Bonnet, A. Bottani: Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes. In: American journal of medical genetics. Volume 69, Number 4, April 1997, pp. 370-379, PMID 9098485 .

Individual evidence

  1. ↑ a b c d Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. ↑ a b c Biemond syndrome type 2. In: Orphanet (database for rare diseases).
  3. ↑ A. Biemond: Het syndroom van Laurence-Biedl en een aanverwant, nieuw syndroom. In: Nederlands Tijdschrift voor geneeskunde Vol. 78, pp. 1801–1814, 1934.
  4. ↑ Posterior Column Ataxia.  In: Online Mendelian Inheritance in Man . (English)

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