ORPHA:163649

Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome

Also called Spondyloepiphyseal dysplasia, Nishimura type

Body system

Bone diseases

Inheritance pattern

Autosomal recessive

Typical age of onset

Infancy, Neonatal

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:163649 is classified under "Bone diseases" in the Orphanet nomenclature.