Coffin Lowry

Coffin-Lowry syndrome is a rare genetic disorder characterized by:

  • Head and Facial skeletal abnormalities.

  • Mental retardation.

  • Short stature.

  • Hypotonia.

Facial features may include:

  • An underdeveloped upper jaw bone.

  • A broad nose.

  • Protruding nostrils.

  • An abnormally prominent brow.

  • Down-slanting eyelid folds.

  • Widely spaced eyes.

  • Large ears.

  • Unusually thick eyebrows.

Skeletal problems may include:

  • Curvature of the spine.

  • Prominence of the breastbone.

  • Short, hyper-extensible, tapered fingers.

Other problems may also be present including:

  • Feeding problems.

  • Respiratory problems.

  • Developmental delay.

  • Mental retardation.

  • Hearing impairment.

  • Awkward gait.

  • Flat feet.

  • Heart and kidney problems.

CAUSES

The disorder affects males and females in equal numbers. Problems may be more severe in males. Females may show mild mental retardation. The disorder is caused by a defective gene. This gene was found in 1996 on the X chromosome.

TREATMENT

There is no cure and no standard treatment for Coffin-Lowry syndrome. Treatment is symptomatic and supportive. Treatment may include:

  • Physical therapy.

  • Speech therapy.

  • Educational services.

PROGNOSIS

The likely outcome for an individual with Coffin-Lowry syndrome varies depending on the severity of symptoms. Early intervention may improve the outlook for patients.