Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate

Description

Bamforth-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.

Clinical Features

Top most frequent phenotypes and symptoms related to Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate

  • Intellectual disability
  • Cleft palate
  • Polyhydramnios
  • Retrognathia
  • Hypothyroidism
  • Anal atresia
  • Choanal atresia
  • Curly hair
  • Congenital hypothyroidism
  • Abnormal hair quantity
And another 3 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate Recommended genes panels

Panel Name, Specifity and genes Tested/covered
BCHE. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

BCHE
Specificity
100 %
Genes
50 %
Butyrylcholinesterase deficiency (sequence analysis of BCHE gene).

By CGC Genetics in Portugal.

BCHE
Specificity
100 %
Genes
50 %
BCHE Sequence Analysis.

By Translational Metabolic Laboratory Radboud University Medical Centre in Netherlands.

BCHE
Specificity
100 %
Genes
50 %
Butyrylcholinesterase Deficiency via BCHE Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BCHE
Specificity
100 %
Genes
50 %
Butyrylcholinesterase deficiency.

By Centogene AG - the Rare Disease Company in Germany.

BCHE
Specificity
100 %
Genes
50 %
Butyrylcholinesterase deficiency.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

BCHE
Specificity
100 %
Genes
50 %
Pharmacogenetic panel.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

MTHFR, COMT, SOD2, ALDH2, G6PD, UGT1A1, DPYD, ABCB1, CYP2C19, CYP2D6, TPMT, VKORC1, PON1, SLCO1B1, CYP2C9, CYP1A2, BCHE, CYP3A4, ADRB2, NAT2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
BCHE.

By Innovagenomics Innovagenomics S.L in Spain.

BCHE
Specificity
100 %
Genes
50 %
Butyrylcholinesterase Deficiency (BCHE).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

BCHE
Specificity
100 %
Genes
50 %
Butyrylcholinesterase Deficiency.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

BCHE
Specificity
100 %
Genes
50 %
Family Prep Screen.

By Counsyl in United States.

F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
50 %
BCHE.

By Fulgent Genetics Fulgent Genetics in United States.

BCHE
Specificity
100 %
Genes
50 %
Butyrylcholinesterase deficiency.

By Bioarray in Spain.

BCHE
Specificity
100 %
Genes
50 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
50 %
Butyrylcholinesterase Deficiency, Sequencing BCHE Gene.

By Reference Laboratory Genetics in Spain.

BCHE
Specificity
100 %
Genes
50 %
Butyrylcholinesterase deficiency.

By Labor Dr. Wisplinghoff in Germany.

BCHE
Specificity
100 %
Genes
50 %
Congenital Hypothyroidism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

SLC26A4, IYD, TSHR, PROP1, POU1F1, KMT2D, SLC16A2, KDM6A, NKX2-1, THRB, GLIS3, UBR1, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
Congenital Hypothyroidism Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

SLC26A4, IYD, TSHR, PROP1, POU1F1, KMT2D, SLC16A2, KDM6A, NKX2-1, THRB, GLIS3, UBR1, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
FOXE1 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

FOXE1
Specificity
100 %
Genes
50 %
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC26A4, SECISBP2, HESX1, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, GLIS3, UBR1, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Bamforth-Lazarus Syndrome via FOXE1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FOXE1
Specificity
100 %
Genes
50 %
Cleft lip, cleft palate and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, TP63, SATB2, BMP4, IRF6, FOXE1, GRHL3, MSX1, NECTIN1, TGDS, SUMO1, TBX22
Specificity
6 %
Genes
50 %
Cleft lip, cleft palate and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, TP63, SATB2, BMP4, IRF6, FOXE1, GRHL3, MSX1, NECTIN1, TGDS, SUMO1, TBX22
Specificity
6 %
Genes
50 %
Cleft lip, cleft palate and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, TP63, SATB2, BMP4, IRF6, FOXE1, GRHL3, MSX1, NECTIN1, TGDS, SUMO1, TBX22
Specificity
6 %
Genes
50 %
Single gene testing FOXE1.

By CeGaT GmbH in Germany.

FOXE1
Specificity
100 %
Genes
50 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
50 %
CONGENITAL HYPOTHYROIDISM.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SLC26A4, SECISBP2, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5, TPO, TG , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
Bamforth Lazarus Syndrome: FOXE1 Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FOXE1
Specificity
100 %
Genes
50 %
Bamforth Lazarus Syndrome: FOXE1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FOXE1
Specificity
100 %
Genes
50 %
Congenital Hypothyroidism: FOXE1 Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FOXE1
Specificity
100 %
Genes
50 %
Congenital Hypothyroidism: FOXE1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FOXE1
Specificity
100 %
Genes
50 %
Congenital Hypothyroidism: PAX8 and FOXE1 Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PAX8, FOXE1
Specificity
50 %
Genes
50 %
Congenital Hypothyroidism: PAX8 and FOXE1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PAX8, FOXE1
Specificity
50 %
Genes
50 %
FOXE1.

By Fulgent Genetics Fulgent Genetics in United States.

FOXE1
Specificity
100 %
Genes
50 %
Hypothyroidism and Resistance to Thyroid Hormone Panel.

By Blueprint Genetics in Finland.

SLC26A4, SECISBP2, HESX1, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5, TPO , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Cleft Lip/Palate and Associated Syndromes Panel.

By Blueprint Genetics in Finland.

COL2A1, KMT2D, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, TP63, KDM6A, SATB2, IRF6, FOXE1, GRHL3, MSX1, TGDS, TBX22
Specificity
7 %
Genes
50 %
CONGENITAL HYPOTHYROIDISM – NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

SLC26A4, IYD, TSHR, NKX2-1, NKX2-5, PAX8, TSHB, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5, TPO, TG
Specificity
8 %
Genes
50 %
THYROID HYPOPLASIA / ATHYREOSIS/ THYROID DYSGENESIS.

By Laboratorio de Genetica Clinica SL in Spain.

TSHR, NKX2-1, NKX2-5, PAX8, FOXE1
Specificity
20 %
Genes
50 %
Congenital Hypothyroidism , Panel Massive Sequencing 20 Genes.

By Reference Laboratory Genetics in Spain.

SLC26A4, SECISBP2, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, THRA, DUOXA2, FOXE1, SLC5A5, TPO, TG
Specificity
6 %
Genes
50 %

Alternate names

Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate Is also known as bamforth-lazarus syndrome;athyroidal hypothyroidism-spiky hair-cleft palate syndrome; bamforth syndrome; hypothyroidism-cleft palate syndrome.



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