MCID: BMF002
MIFTS: 19

Bamforth Syndrome

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Bamforth Syndrome

MalaCards integrated aliases for Bamforth Syndrome:

Name: Bamforth Syndrome 53 29 6 72
Hypothyroidism Cleft Palate Hypothyroidism, Athyroidal, with Spiky Hair and Cleft Palate 53
Bamforth-Lazarus Syndrome 53

Classifications:



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UMLS 72 C1855794

Summaries for Bamforth Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1226DefinitionA very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.EpidemiologyOnly 8 patients from 6 families have been reported to date.Clinical descriptionThe syndrome is typically observed at birth with cleft palate, spiky hair and 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. 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.EtiologyBamforth-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 with a novel FOXE1 homozygous mutation causing increased thyroid gene expression.Diagnostic methodsDiagnosis 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.Differential diagnosisDifferential diagnoses include other forms of syndromic hypothyroidism such as Johanson-Blizzard syndrome.Antenatal diagnosisWhilst prenatal diagnosis is not performed, a cleft palate and, in some cases, polyhydramnios (resulting from choanal atresia) may be observed during routine antenatal sonography.Genetic counselingThe 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. Where both parents are heterozygous carriers, there is 25% risk of transmitting the disease to offspring.Management and treatmentThyroid 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.PrognosisWith proper treatment adherence the prognosis is good and children can have normal physical growth, pubertal development, and anterior pituitary function. Quality of life, however, can be affected by cleft palate/choanal atresia as multiple surgeries may be necessary. Intellectual development is normal if treatment for hypothyroidism is not delayed.Visit the Orphanet disease page for more resources.

MalaCards based summary : Bamforth Syndrome, also known as hypothyroidism cleft palate hypothyroidism, athyroidal, with spiky hair and cleft palate, is related to hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate and hypothyroidism, congenital, nongoitrous, 2. An important gene associated with Bamforth Syndrome is FOXE1 (Forkhead Box E1). Affiliated tissues include thyroid, skin and testes.

Related Diseases for Bamforth Syndrome

Graphical network of the top 20 diseases related to Bamforth Syndrome:



Diseases related to Bamforth Syndrome

Symptoms & Phenotypes for Bamforth Syndrome

Drugs & Therapeutics for Bamforth Syndrome

Search Clinical Trials , NIH Clinical Center for Bamforth Syndrome

Genetic Tests for Bamforth Syndrome

Genetic tests related to Bamforth Syndrome:

# Genetic test Affiliating Genes
1 Bamforth Syndrome 29 FOXE1

Anatomical Context for Bamforth Syndrome

MalaCards organs/tissues related to Bamforth Syndrome:

41
Thyroid, Skin, Testes, Tongue, Pituitary

Publications for Bamforth Syndrome

Articles related to Bamforth Syndrome:

# Title Authors PMID Year
1
Bamforth syndrome: is porencephaly a new finding? 38
24341142 2013
2
Overexpression of mouse TTF-2 gene causes cleft palate. 38
22304410 2012
3
Spectrum of Human Foxe1/TTF2 Mutations. 38
20453517 2010
4
Unexpected prolonged paralysis after mivacurium in a patient with Bamforth syndrome. 38
16884476 2006
5
Distribution of the titf2/foxe1 gene product is consistent with an important role in the development of foregut endoderm, palate, and hair. 38
12203737 2002
6
An autosomal recessive syndrome of choanal atresia, hypothelia/athelia and thyroid gland anomalies overlapping bamforth syndrome, ANOTHER syndrome and methimazole embryopathy. 38
12002153 2002

Variations for Bamforth Syndrome

ClinVar genetic disease variations for Bamforth Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FOXE1 NM_004473.4(FOXE1): c.194C> T (p.Ala65Val) single nucleotide variant Pathogenic rs104894110 9:100616390-100616390 9:97854108-97854108
2 FOXE1 NM_004473.4(FOXE1): c.170G> A (p.Ser57Asn) single nucleotide variant Pathogenic rs28937575 9:100616366-100616366 9:97854084-97854084
3 FOXE1 NM_004473.4(FOXE1): c.285A> G (p.Lys95=) single nucleotide variant Likely benign rs139551528 9:100616481-100616481 9:97854199-97854199
4 FOXE1 NM_004473.4(FOXE1): c.505_507GCC[7] (p.Ala176_Ala179del) short repeat Likely benign rs71369530 9:100616722-100616733 9:97854440-97854451
5 FOXE1 NM_004473.4(FOXE1): c.512_513insTGCCGCAGC (p.Ala177_Ala179dup) insertion Benign rs755194188 9:100616708-100616709 9:97854426-97854427
6 FOXE1 NM_004473.4(FOXE1): c.387T> C (p.Leu129=) single nucleotide variant Benign rs3021523 9:100616583-100616583 9:97854301-97854301
7 FOXE1 NM_004473.4(FOXE1): c.505_507GCC[9] (p.Ala178_Ala179del) short repeat Benign rs71369530 9:100616728-100616733 9:97854446-97854451
8 FOXE1 NM_004473.4(FOXE1): c.825C> T (p.Ser275=) single nucleotide variant Benign rs3021526 9:100617021-100617021 9:97854739-97854739

Expression for Bamforth Syndrome

Search GEO for disease gene expression data for Bamforth Syndrome.

Pathways for Bamforth Syndrome

GO Terms for Bamforth Syndrome

Sources for Bamforth Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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