ORPHA:1466

COFS syndrome

Also called Cerebrooculofacioskeletal syndrome, Pena-Shokeir syndrome type 2

Body system

Skin diseases

Inheritance pattern

Autosomal recessive

Typical age of onset

Antenatal, Neonatal

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:1466 is classified under "Skin diseases" in the Orphanet nomenclature.