What is 18q Syndrome?

18q Syndrome is a rare chromosomal disorder in which there is a deletion of part of the long arm (q) of chromosome 18.

What Are the Symptoms?

The symptoms can vary greatly and can include the following:

  • Short stature
  • Mental retardation
  • Poor muscle tone (hypotonia)
  • Malformations of the hands and feet
  • Abnormalities of the skull and facial (craniofacial) region, such as:
    • Microcephaly
    • “Carp-shaped” mouth
    • Deeply set eyes
    • Prominent ears and/or unusually flat
    • Underdeveloped midfacial regions (midfacial hypoplasia)
  • Visual abnormalities
  • Hearing impairment
  • Genital malformations
  • Structural heart defects
  • Bone and skin changes, specifically dry and itchy skin


How Do You Get 18q Syndrome?

In most cases, it usually results from spontaneous (de novo) errors during early embryonic development. These errors occur for unknown reasons.


How Is 18q Syndrome Diagnosed?

Diagnosis usually occurs after birth through a thorough medical evaluation and chromosomal analysis.

Is There a Treatment?

Treatment is typically directed toward the specific symptoms the individual is experiencing. Management of the disease may require a team of medical professionals who work together to address and treat the individual. These professionals may include a pediatrician, neurologist, eye and/or hearing specialist, orthopedist, cardiologist, and/or other healthcare professionals.


Helpful Resources

The Chromosome 18 Registry & Research Society

Leukodystrophy Care Network