Malformation syndrome

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Classification according to ICD-10
Q87 Other specified congenital malformation syndromes involving multiple systems
ICD-10 online (WHO version 2019)

Under a malformation syndrome - Syn .: a pleiotropism - refers to the occurrence of several typical combined congenital malformations , multiple organ systems relate to the same time.

In most cases, suspicion of such a syndrome can be made in early childhood, and increasingly also in the context of prenatal diagnostics .

Classification according to ICD10

The malformation syndromes include a variety of diseases.

The following list is based on the list of the DIMDI Institute for the ICD-10 :

  • Q87.0 with predominantly facial involvement

Acrocephalopolyndactyly Syndromes - Carpenter Syndrome - Apert Syndrome - Freeman-Sheldon Syndrome - Goldenhar Syndrome - Fraser Syndrome (Cryptophthalmos Syndrome) - Moebius Syndrome - Orofaziodigitale Syndrome - Pierre Robin Sequence - Cyclopia

  • Q87.1 mainly with short stature

Aarskog syndrome - Cockayne syndrome - Cornelia de Lange syndrome - Dubowitz syndrome - Noonan syndrome - Prader-Willi syndrome - Robinow syndrome - Seckel syndrome - Silver-Russell syndrome - Smith-Lemli-Opitz- syndrome

  • Q87.2 with predominantly extremity involvement

Holt-Oram syndrome - Klippel-Trénaunay-Weber syndrome - Nagel-patella syndrome - Rubinstein-Taybi syndrome - Sirenomelia - TAR syndrome - VACTERL association

  • Q87.3 with increased tissue growth in early childhood

Sotos syndrome - Weaver syndrome - Wiedemann-Beckwith syndrome

  • Q87.4

Marfan's Syndrome

  • Q87.8 Other, not elsewhere classified

Alport syndrome - Hydroletalus syndrome - Laurence-Moon-Biedl-Bardet syndrome - Meacham syndrome - Ruvalcaba syndrome - Zellweger syndrome

Other malformation syndromes

Some examples are:

Individual evidence

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