Aniridia-patellar aplasia 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 aniridia Patellaaplasie syndrome is a very rare congenital disease with a combination of the absence of the iris ( iris ) of the eye ( aniridia ) and absence ( aplasia ) of the kneecap (patella).

The first description comes from 1975 by the doctors AE Mirkinson and NK Mirkinson.

distribution

The frequency is given as less than 1 in 1,000,000, so far only three members of a family have been described. The inheritance is autosomal dominant .

root cause

The cause is not known.

Clinical manifestations

Clinical criteria are:

  • Manifestation prenatally or as a newborn
  • missing patellae
  • Aniridia

Individual evidence

  1. ↑ a b 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 aniridia-patella aplasia syndrome. In: Orphanet (Rare Disease Database).
  3. ↑ AE Mirkinson, NK Mirkinson: A familial syndrome of aniridia and absence of the patella. In: Birth defects original article series. Volume 11, Number 5, 1975, pp. 129-131, PMID 1218204 .
  4. ↑ Aniridia and Absent Patella.  In: Online Mendelian Inheritance in Man . (English)

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