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X-linked intellectual disability, Najm type
Disease definition
Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.
ORPHA:163937
Classification level: DisorderSummary
Epidemiology
Prevalence of this rare neurological syndrome is unknown. Up to 35 families have been reported to date.
Clinical description
Patients (mostly females) have been reported to have variable clinical manifestations including intellectual deficit, severe developmental delay, seizures, unsteady gait, sensorineural hearing loss and postnatal microcephaly (in most cases). Minor facial anomalies include: low or broad forehead, hypertelorism, long philtrum and micrognathia. Ocular findings are also variable and include congenital nystagmus, strabismus, cataracts, myopia or reduced visual acuity. Males appear to be more severely affected.
Etiology
Point mutations and deletions in the CASK gene (Xp11.4) have been found in patients with this syndrome.
Diagnostic methods
Magnetic resonance imaging (MRI) generally shows pontocerebellar hypoplasia/atrophy and simplified cortical gyri. Molecular genetic testing is needed to confirm diagnosis.
Genetic counseling
Transmission follows an X-linked dominant pattern.
A summary on this disease is available in Deutsch (2013) Español (2013) Français (2013) Italiano (2013) Nederlands (2013) Português (2013) Polski (2013, pdf)
Detailed information
Disease review articles
- Clinical genetics review
- English (2013) - GeneReviews
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)Additional information