SCARF syndrome

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SCARF Syndrome

SCARF Syndrome (pronounced: /skɑːrf/), is a rare genetic disorder characterized by skeletal abnormalities, cleft lip and palate, anophthalmia, renal dysplasia, and failure to thrive. The term "SCARF" is an acronym derived from the initial letters of these major symptoms.

Etymology

The term "SCARF" was first used in medical literature in 1983 by David W. Smith, an American pediatrician and geneticist. The syndrome was named after the major symptoms observed in affected individuals: Skeletal abnormalities, Cleft lip and palate, Anophthalmia, Renal dysplasia, and Failure to thrive.

Symptoms

  • Skeletal abnormalities: These may include short stature, abnormal bone development, and other skeletal irregularities.
  • Cleft lip and palate: This is a split or opening in the upper lip and roof of the mouth, respectively.
  • Anophthalmia: This is a condition where one or both eyes are absent.
  • Renal dysplasia: This refers to abnormal development of the kidneys.
  • Failure to thrive: This is a condition where an individual, usually a child, does not gain weight or grow as expected.

Diagnosis

Diagnosis of SCARF Syndrome is typically based on the presence of the characteristic symptoms. Genetic testing may also be performed to confirm the diagnosis.

Treatment

Treatment for SCARF Syndrome is symptomatic and supportive. This may include surgical correction of skeletal abnormalities and cleft lip and palate, kidney transplant for renal dysplasia, and nutritional support for failure to thrive.

See Also

External links

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