Orphanet: Spastic paraplegia intellectual disability nystagmus obesity syndrome

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Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

Disease definition

A rare genetic neurological disorder characterized by the association of congenital spastic paraplegia with global developmental delay and intellectual disability, ophthalmologic abnormalities (including nystagmus, reduced visual acuity, or hypermetropia), and obesity. Additional manifestations are brachyplagiocephaly and dysmorphic facial features. Brain imaging may show dilated ventricles, abnormal myelination, and mild generalized atrophy. Homozygous loss-of-function variants of KIDINS220 associated with a fetal lethal phenotype with ventriculomegaly and limb contractures have been reported.

ORPHA:521390

Classification level: Disorder

Synonym(s):
- SINO syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Antenatal, Neonatal
ICD-10: G11.4
OMIM: 617296
UMLS: -
MeSH: -
GARD: -
MedDRA: -

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Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

ORPHA:521390

A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)

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