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1q44 microdeletion syndrome

From WikiMD's Wellness Encyclopedia

Alternate names[edit | edit source]

Del(1)(q44); Monosomy 1q44; Chromosome 1q44 microdeletion syndrome

Definition[edit | edit source]

1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

Epidemiology[edit | edit source]

It has been reported in four unrelated patients.

Signs and symptoms[edit | edit source]

The most common facial features include microcephaly, hypertelorism and thin upper lip. An abnormal corpus callosum (agenesis, hypogenesis or slightly reduced thickness) is observed in all affected patients.

Clinical presntation[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

  • Agenesis of corpus callosum
  • Bilateral tonic-clonic seizure(Grand mal seizures)
  • Delayed speech and language development(Deficiency of speech development)
  • Exaggerated cupid's bow(Cupid bow upper lip)
  • Global developmental delay
  • Intellectual disability, severe(Early and severe mental retardation)
  • Muscular hypotonia(Low or weak muscle tone)
  • Thin vermilion border(Decreased volume of lip)

30%-79% of people have these symptoms

5%-29% of people have these symptoms

  • Biparietal narrowing
  • Frontal bossing
  • High forehead
  • High palate(Elevated palate)
  • Horseshoe kidney(Horseshoe kidneys)
  • Hydrocephalus(Too much cerebrospinal fluid in the brain)
  • Intestinal malrotation
  • Optic disc hypoplasia
  • Preauricular skin tag
  • Prominent metopic ridge
  • Scoliosis
  • Synophrys(Monobrow)
  • Vesicoureteral reflux

Diagnosis[edit | edit source]

This microdeletion was identified by array CGH (comparative genomic hybridization).

Treatment[edit | edit source]

NIH genetic and rare disease info[edit source]

1q44 microdeletion syndrome is a rare disease.


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