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Bamforth syndrome

Bamforth-Lazarus syndrome, Athyroidal Hypothyroidism with Spiky Hair and Cleft Palate, Hypothyroidism cleft palate Hypothyroidism, athyroidal, with spiky hair and cleft palate

Overview

Bamforth syndrome is a rare syndrome characterized mainly by the association of an abnormal opening in the roof of the mouth and reduced thyroid function.

Symptoms - Bamforth syndrome

  • Cleft palate
  • Hypothyroidism
  • Choanal atresia
  • Spiky hair
  • Divided epiglottis
  • Excess amniotic fluid
  • Abnormal thyroid
  • Mental retardation
  • Small jaw
  • Twisted hair shaft
  • Sparse or absent scalp hair
  • Abnormal hair quantity
  • Choanal atresia
  • Congenital hypothyroidism
  • Intellectual disability
  • Polyhydramnios
  • Retrognathia
  • Thyroid agenesis

Causes - Bamforth syndrome

Bamforth syndrome is caused by homozygous mutation in the FKHL15 gene (FOXE1) on chromosome 9q22. Inheritance of Bamforth syndrome is autosomal recessive.

Prevention - Bamforth syndrome

Not supplied.

Diagnosis - Bamforth syndrome

The diagnosis of Bamforth syndrome is based on the presence of symptoms, the results of a physical examination and the results of diagnostic tests:

  • Congenital hypothyroidism with cleft palate and spiky hair
  • Thyroid ultrasonography (USG) and computed tomography (CT) examination
  • Genetic testing in order to confirm a mutation in the FOXE1 gene

Prognosis - Bamforth syndrome

Prognosis is good with proper treatment and children can have normal growth and development.

Treatment - Bamforth syndrome

Not supplied.

Resources - Bamforth syndrome

  • NIH
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