X-linked intellectual disability, Najm type
Alternate names[edit | edit source]
X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia; MICPCH; Intellectual disability and microcephaly with pontine and cerebellar hypoplasia ; MICPCH SYNDROME; microcephaly with pontine and cerebellar hypoplasia ; X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
Definition[edit | edit source]
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.
Epidemiology[edit | edit source]
Prevalence of this rare neurological syndrome is unknown. Up to 35 families have been reported to date.
Cause[edit | edit source]
Point mutations and deletions in the CASK gene (Xp11.4) have been found in patients with this syndrome.
Inheritance[edit | edit source]
Transmission follows an X-linked dominant pattern.
Signs and symptoms[edit | edit source]
- 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.
Clinical presentation[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
80%-99% of people have these symptoms
- Cerebellar hypoplasia(Small cerebellum)
- Intellectual disability, moderate(IQ between 34 and 49)
- Severe global developmental delay
30%-79% of people have these symptoms
- Broad forehead(Increased width of the forehead)
- Cataract(Clouding of the lens of the eye)
- Cerebral cortical atrophy(Decrease in size of the outer layer of the brain due to loss of brain cells)
- Gait disturbance(Abnormal gait)
- [[Hypertelorism](Wide-set eyes)
- Long philtrum
- Macrotia(Large ears)
- Microcephaly(Abnormally small skull)
- Micrognathia(Little lower jaw)
- Myopia(Close sighted)
- Nystagmus(Involuntary, rapid, rhythmic eye movements)
- Seizure
- Sensorineural hearing impairment
- Strabismus(Cross-eyed)
- Visual impairment(Impaired vision)
- Wide nasal bridge(Broad nasal bridge)
Diagnosis[edit | edit source]
- Magnetic resonance imaging (MRI) generally shows pontocerebellar hypoplasia/atrophy and simplified cortical gyri.
- Molecular genetic testing is needed to confirm diagnosis.
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
X-linked intellectual disability, Najm type is a rare disease.
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