Definition

What is Bamforth syndrome?

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

How common is Bamforth syndrome?

Bamforth syndrome is extremely uncommon. Only 8 patients from 6 families have been reported to date. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Bamforth syndrome?

Newborns present at birth with thyroid dysgenesis (in most cases athyreosis) leading to congenital hypothyroidism that manifests with lethargy, poor feeding, macroglossia, cold or mottled skin, persistent jaundice, and umbilical hernia.

Neonatal hyperbilirubinemia is also common. All newborns with Bamforth- Lazarus syndrome have a cleft palate and spiky hair. Some may also present with choanal atresia and bifid epiglottis. Facial dysmorphism, consisting of microcephaly, hypertelorism, anteverted nares, narrow nasal bridge, low-set ears, small jaw and retrognathia, has been reported in one case. Porencephaly was also recently described in one case.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Bamforth syndrome?

Bamforth-Lazarus syndrome is due to homozygous loss-of-function missense mutations located within the forkhead domain of the FOXE1 gene (9q22), encoding thyroid transcription factor 2 (TTF-2). TTF-2 is expressed in the thyroid gland (as well as elsewhere like the tongue, epiglottis and palate) and is thought to play a crucial role in thyroid morphogenesis.

Cases reported so far have all been due to homozygous loss-of-function mutations apart from one case described recently with a novel FOXE1 homozygous mutation causing increased thyroid gene expression.

Risk factors

What increases my risk for Bamforth syndrome?

The disease is inherited autosomal recessively and genetic counseling is possible. Most of the patients reported to date came from consanguineous parents, both being heterozygous for the genetic mutation.

Please consult with your doctor for further information.

 

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Bamforth syndrome diagnosed?

Diagnosis is based on clinical findings of congenital hypothyroidism with cleft palate and spiky hair along with findings of thyroid ultrasonography (USG) and computed tomography examination. Thyroid tissue is either completely absent or non-functional. Serum thyroid stimulation hormone (TSH) levels should be measured (levels will be elevated on newborn screening filter paper test, as is seen in all cases of athyreosis) to determine necessary treatment dosage. Molecular genetic testing can identify a mutation in the FOXE1 gene, confirming diagnosis.

How is Bamforth syndrome treated?

Thyroid hormone replacement therapy is the standard treatment for those with Bamforth-Lazarus syndrome and should be started as soon as possible. The dosage of synthetic thyroxine (T4) necessary depends on the patient’s age, weight and any other medical conditions. Regular follow up is recommended to monitor any fluctuation in TSH levels and treatment is lifelong. In neonates born with hyperbilirubinemia, phototherapy is often effective. Surgical procedures for cleft palate (maxillo-facial reconstruction and plastic surgery) and choanal atresia (surgery to reopen the nasal passages) should be discussed in a specialized health center. Speech therapy may also be required.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Bamforth syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: January 25, 2018 | Last Modified: January 25, 2018

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