Coffin-Siris syndrome

Coffin-Siris syndrome, first described in 1970, is a rare genetic abnormality.

Coffin-Siris syndrome should not be confused with Coffin-Lowry syndrome.

Epidemiology

It occurs more frequently in females (with a M:F of ~4:1).

Clinical presentation

One of the most typical features is absence or hypoplasia of the nails of the fifth fingers, thus the alternative name of “fifth digit syndrome”.

Most frequent findings include:

• intellectual disability
• coarse features
• hypoplasia or absence of the fifth distal phalanges and finger-nails
• feeding difficulties
• muscular hypotonia (floppy baby)
• microcephaly
• Dandy-Walker malformation
• agenesis of the corpus callosum
• there is an association with medulloblastoma

Pathology

Genetics

It is thought most likely to relate to a gene on chromosome 7, however, its exact location has yet to be determined.

Siehe auch:

• Medulloblastom
• Mikrozephalie
• Dandy-Walker-Syndrom
• Cornelia-de-Lange-Syndrom
• Rubinstein-Taybi-Syndrom
• Coffin-Lowry-Syndrom
• DOOR-Syndrom
• Nicolaides-Baraitser-Syndrom
• Mabry-Syndrom
• BOD-Syndrom
• Dysgenesie des Corpus callosum

und weiter:

• Nagelhypoplasie