robinow syndrome

Robinow syndrome is a rare heterogeneous genetic disorder with at least two distinct forms.

Clinical spectrum

The syndrome can affect several systems, including:

Pathology

Genetics

Both autosomal dominant and autosomal recessive forms exist.

The autosomal recessive form of the disorder has been linked to the ROR2 gene on position 9 of the long arm of chromosome 9.

History and etymology

It was first described in 1969 by the geneticist Meinhard Robinow (and his colleagues).

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