Lenz syndrome

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Classification according to ICD-10
Q11.2 Microphthalmos
ICD-10 online (WHO version 2019)

The Lenz microphthalmia syndrome or Lenz syndrome is an inherited disease with coloboma , missing or too small eye appendages, cataract in combination with various malformations of fingers, teeth, heart and urogenital tract.

Synonyms are:

The name refers to the German geneticist Widukind Lenz , who first described the disease in 1955.


Frequency is unknown; inheritance is X chromosomal - recessive .

root cause

The disease is based on mutations at location Xq27-q28.

Clinical manifestations

Clinical criteria are:

Web links

MICROPHTHALMIA, SYNDROMIC 2; MCOPS2.  In: Online Mendelian Inheritance in Man . (English)

Individual evidence

  1. Who named it
  2. a b Pseudo-Zellweger Syndrome. In: Orphanet (Rare Disease Database).
  3. ^ W. Lenz: Recessive-sex-linked microphthalmia with multiple malformations. In: Zeitschrift für Kinderheilkunde , Berlin, 1955, Vol. 77, ISSN  0044-2917 , pp. 384-390, PMID 13300470 .
  4. MICROPHTHALMIA, SYNDROMIC 1; MCOPS1.  In: Online Mendelian Inheritance in Man . (English)
  5. G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger (eds.): Leiber - The clinical syndromes. Syndromes, sequences and symptom complexes. 7th edition. Urban & Schwarzenberg, 1990, ISBN 3-541-01727-9 .