MCID: BMF002
MIFTS: 16

Bamforth Syndrome

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Bamforth Syndrome

MalaCards integrated aliases for Bamforth Syndrome:

Name: Bamforth Syndrome 54 30 6 74
Hypothyroidism Cleft Palate Hypothyroidism, Athyroidal, with Spiky Hair and Cleft Palate 54
Bamforth-Lazarus Syndrome 54

Classifications:



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UMLS 74 C1855794

Summaries for Bamforth Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1226Disease definitionBamforth-Lazarus syndrome is a 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 descriptionNewborns 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.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 recently 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 (see these terms).Antenatal diagnosisPrenatal diagnosis is not performed.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.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 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia. An important gene associated with Bamforth Syndrome is FOXE1 (Forkhead Box E1). Affiliated tissues include thyroid, skin and testes.

Related Diseases for Bamforth Syndrome

Diseases related to Bamforth Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 11.3
2 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 10.1
3 choanal atresia, posterior 10.1
4 porencephaly 10.1

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 30 FOXE1

Anatomical Context for Bamforth Syndrome

MalaCards organs/tissues related to Bamforth Syndrome:

42
Thyroid, Skin, Testes, Tongue, Pituitary

Publications for Bamforth Syndrome

Articles related to Bamforth Syndrome:

# Title Authors Year
1
Bamforth syndrome: is porencephaly a new finding? ( 24341142 )
2013
2
MSX1 and TGF-beta3 are novel target genes functionally regulated by FOXE1. ( 21177256 )
2011
3
Unexpected prolonged paralysis after mivacurium in a patient with Bamforth syndrome. ( 16884476 )
2006
4
An autosomal recessive syndrome of choanal atresia, hypothelia/athelia and thyroid gland anomalies overlapping bamforth syndrome, ANOTHER syndrome and methimazole embryopathy. ( 12002153 )
2002
5
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. ( 12165566 )
2002
6
Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. ( 9697705 )
1998
7
Congenital hypothyroidism, spiky hair, and cleft palate. ( 2918525 )
1989

Variations for Bamforth Syndrome

ClinVar genetic disease variations for Bamforth Syndrome:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 FOXE1 NM_004473.3(FOXE1): c.194C> T (p.Ala65Val) single nucleotide variant Pathogenic rs104894110 GRCh37 Chromosome 9, 100616390: 100616390
2 FOXE1 NM_004473.3(FOXE1): c.194C> T (p.Ala65Val) single nucleotide variant Pathogenic rs104894110 GRCh38 Chromosome 9, 97854108: 97854108
3 FOXE1 NM_004473.3(FOXE1): c.170G> A (p.Ser57Asn) single nucleotide variant Pathogenic rs28937575 GRCh37 Chromosome 9, 100616366: 100616366
4 FOXE1 NM_004473.3(FOXE1): c.170G> A (p.Ser57Asn) single nucleotide variant Pathogenic rs28937575 GRCh38 Chromosome 9, 97854084: 97854084
5 FOXE1 NM_004473.3(FOXE1): c.387T> C (p.Leu129=) single nucleotide variant Benign rs3021523 GRCh37 Chromosome 9, 100616583: 100616583
6 FOXE1 NM_004473.3(FOXE1): c.387T> C (p.Leu129=) single nucleotide variant Benign rs3021523 GRCh38 Chromosome 9, 97854301: 97854301
7 FOXE1 NM_004473.3(FOXE1): c.532_537delGCCGCC (p.Ala178_Ala179del) deletion Benign rs71369530 GRCh37 Chromosome 9, 100616728: 100616733
8 FOXE1 NM_004473.3(FOXE1): c.532_537delGCCGCC (p.Ala178_Ala179del) deletion Benign rs71369530 GRCh38 Chromosome 9, 97854446: 97854451
9 FOXE1 NM_004473.3(FOXE1): c.825C> T (p.Ser275=) single nucleotide variant Benign rs3021526 GRCh37 Chromosome 9, 100617021: 100617021
10 FOXE1 NM_004473.3(FOXE1): c.825C> T (p.Ser275=) single nucleotide variant Benign rs3021526 GRCh38 Chromosome 9, 97854739: 97854739
11 FOXE1 NM_004473.3(FOXE1): c.285A> G (p.Lys95=) single nucleotide variant Likely benign rs139551528 GRCh38 Chromosome 9, 97854199: 97854199
12 FOXE1 NM_004473.3(FOXE1): c.285A> G (p.Lys95=) single nucleotide variant Likely benign rs139551528 GRCh37 Chromosome 9, 100616481: 100616481
13 FOXE1 NM_004473.3(FOXE1): c.526_537delGCCGCCGCCGCC (p.Ala176_Ala179del) deletion Likely benign rs71369530 GRCh38 Chromosome 9, 97854440: 97854451
14 FOXE1 NM_004473.3(FOXE1): c.526_537delGCCGCCGCCGCC (p.Ala176_Ala179del) deletion Likely benign rs71369530 GRCh37 Chromosome 9, 100616722: 100616733
15 FOXE1 NM_004473.3(FOXE1): c.512_513insTGCCGCAGC (p.Ala179_Ile180insAlaAlaAla) insertion Benign rs755194188 GRCh38 Chromosome 9, 97854426: 97854427
16 FOXE1 NM_004473.3(FOXE1): c.512_513insTGCCGCAGC (p.Ala179_Ile180insAlaAlaAla) insertion Benign rs755194188 GRCh37 Chromosome 9, 100616708: 100616709

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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