MORM syndrome

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The MORM syndrome , acronym for M entale retardation , hull stressed O besitas ( truncal obesity ), R etinale dystrophy and M ikropenis , is a very rare congenital disease with the eponymous principal features.

The first description comes from the year 2006 by the British doctors David J. Hampshire, Mohammed Ayub, Kelly Springell et al.

distribution

The frequency is not known; 14 people in one family have been described to date. Inheritance is autosomal - recessive .

root cause

The disease are mutations in INPP5E - gene on chromosome 9 locus q34.3 basis that 5- polyphosphates-for inositol phosphatase coded.

This gene is also affected in type I Joubert syndrome .

Clinical manifestations

Clinical criteria are:

Differential diagnosis

The Laurence-Moon-Biedl-Bardet syndrome and the Cohen syndrome are to be distinguished .

literature

  • M. Jacoby, JJ Cox, S. Gayral, DJ Hampshire, M. Ayub, M. Blockmans, E. Pernot, MV Kisseleva, P. Compère, SN Schiffmann, F. Gergely, JH Riley, D. Pérez-Morga, CG Woods, S. Schurmans: INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. In: Nature genetics. Volume 41, Number 9, September 2009, pp. 1027-1031, doi: 10.1038 / ng.427 , PMID 19668215 .

Individual evidence

  1. ↑ a b c MORM syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ a b D. J. Hampshire, M. Ayub, K. Springell, E. Roberts, H. Jafri, Y. Rashid, J. Bond, JH Riley, CG Woods: MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis) , a new autosomal recessive disorder, links to 9q34. In: European journal of human genetics: EJHG. Volume 14, Number 5, May 2006, pp. 543-548, doi: 10.1038 / sj.ejhg.5201577 , PMID 16493448 .
  3. ↑ a b Mental retardation, truncal obesity, retinal dystrophy, and micropenis.  In: Online Mendelian Inheritance in Man . (English)

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