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.

Genes related to Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate

BCHE
FOXE1

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 Panel GTR000527734 complete gene list MTHFR, COMT, SOD2, ALDH2, G6PD, UGT1A1, DPYD, ABCB1, CYP2C19, CYP2D6, TPMT, VKORC1, PON1, SLCO1B1, CYP2C9, CYP1A2, BCHE, CYP3A4, ADRB2, NAT2, CYP2A6, CCR5, CYP3A5, CYP2B6, OPRM1, ADH1B, SLC19A1, ADRB1, ADRB3 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 Panel GTR000552033 complete gene list F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4, CPT2, GNE, CNGB3, CLRN1, PCDH15, DLD, HADHA, OPA3, SMPD1, SLC26A4, RS1, FAH, G6PC, MPI, HEXA, ALDH3A2, CTSK, PAH, AGXT, CPT1A, MAN2B1, GALC, IVD, CBS, PYGM, GCDH, GALT, ASS1, SLC22A5, PMM2, BBS10, BBS1, TPP1, CLN3, AGA, AIRE, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, GJB2, IDUA, NPC1, RMRP, SMN1, ATM, NBN, CLN8, HBA1, LAMB3, FKTN, HBA2, NEB, CTNS, NPHS2, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, TH, GRHPR, LAMA3, MLC1, MCOLN1, PEX1, POMGNT1, SLC12A6, SLC17A5, TTPA, ABCC8, CLN5, LAMC2, PKHD1, DPYD, TMEM216, CYP21A2, VPS13B, MEFV, F11, HGD, BCHE 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 Panel GTR000528277 complete gene list FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYRP1, STAR, SLC45A2, CHM, TYR, SLC37A4, ABCA12, HSD17B4, CPT2, TRMU, GNPTAB, GLB1, GNE, OCRL, ABCA4, CYP1B1, CEP290, CLRN1, TRIM32, USH2A, PCDH15, DLD, POLG, CYP11B1, SLC25A13, HADHA, OPA3, FH, RPE65, RLBP1, GUCY2D, SMPD1, CYP11B2, SLC26A4, CDH23, HPS1, PDHB, HPS4, HPS3, DHDDS, RS1, FAH, HMGCL, HSD3B2, FAM161A, TAT, G6PC, GAMT, RDH12, RARS2, HAX1, HADHB, CERKL, PCCB, PCCA, GLDC, AMT, LCA5, ALG6, TYMP, MPI, ETHE1, MYO7A, PUS1, OTC, PDHA1, ABCD1, HEXA, ALDH3A2, HEXB, CTSK, ACOX1, PTS, PAH, AGXT, TCIRG1, MPV17, CPT1A, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, NDUFS6, MMAB, MMAA, MUT, DBT, MAN2B1, MLYCD, GALC, IVD, SLC25A15, CBS, CYBA, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALK1, LRPPRC, SLC3A1, ASS1, CYP27A1, SLC22A5, SLC25A20, PMM2, BBS12, MKS1, BBS10, BBS1, BBS2, ASL, TPP1, CYP17A1, NR2E3, ADA, AGA, ARSB, IL2RG, AIRE, AR, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, GJB2, GLA, IDS, IDUA, LIPA, NPC1, NPC2, RMRP, SMN1, ATM, NBN, BRIP1, ADAMTS2, CHRNE, CLN6, CLN8, COL4A3, DOK7, HBA1, LAMB3, FKTN, MTTP, G6PD, HBA2, NEB, CTNS, CYBB, PEX2, NPHS2, PROP1, NPHS1, DCLRE1C, PPT1, PEX7, SGCA, SGCB, SERPINA1, SLC7A7, SACS, SLC26A2, SLC35A3, UGT1A1, TH, GRHPR, LAMA3, MLC1, MCOLN1, MPL, PEX1, POMGNT1, RTEL1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, WAS, ABCC8, CAPN3, CLN5, EIF2B5, LAMC2, PHGDH, PKHD1, RAPSN, TGM1, TMEM216, GJB1, NTRK1, FKRP, DYSF, LHCGR, KCNJ11, CYP21A2, COL4A4, SLC12A3, BSND, COL4A5, MTM1, VRK1, EMD, SGCD, TSEN54, MFSD8, VPS13B, VPS13A, ATP6V1B1, MYO15A, SLC4A11, PRPS1, PEX6, LOXHD1, PEX10, CHRNG, RAB23, POR, EXOSC3, CTSC, LYST, DNAI2, DNAI1, ERCC6, TECPR2, MEFV, SRD5A2, F9, F8, FANCA, FANCG, EVC, EVC2, LPL, EIF2AK3, VSX2, RAG2, ERCC8, SLC39A4, COL7A1, CIITA, EDA, TTC37, TFR2, HOGA1, HJV, CYP19A1, AMH, AMHR2, ASNS, MED17, SEPSECS, WRN, XPA, LIFR, SLC7A9, XPC, GDF5, HGD, BCHE, SLC26A3, VPS53 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 Panel GTR000558947 complete gene list SLC26A4, IYD, TSHR, PROP1, POU1F1, KMT2D, SLC16A2, KDM6A, NKX2-1, THRB, GLIS3, UBR1, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5, TPO, TG 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 Panel GTR000552845 complete gene list SLC26A4, IYD, TSHR, PROP1, POU1F1, KMT2D, SLC16A2, KDM6A, NKX2-1, THRB, GLIS3, UBR1, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5, TPO, TG 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 Panel GTR000523771 complete gene list SLC26A4, SECISBP2, HESX1, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, GLIS3, UBR1, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5, TPO, TG, TRH, TRHR 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 Panel GTR000552865 complete gene list RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3, SMC1A, NIPBL, NSD1, PTCH1, FGFR1, FGF8, SIX3, KMT2D, ANKRD11, OFD1, FGD1, ZEB2, SALL1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, DSPP, POLR1C, PAX3, SNAI2, SOX10, TCOF1, SIX1, FGF3, SEMA3E, TFAP2A, POLR1D, MID1, MED12, KAT6B, WDR35, PTH1R, NAA10, RAB23, MSX2, TWIST1, TGIF1, ZIC2, CDON, GLI2, TGFBR1, TGFBR2, SKI, EZH2, GLI3, MITF, TP63, KDM6A, GDF6, WDR19, FGF10, ALX4, SALL4, EFNB1, EFTUD2, GNAI3, SH3BP2, GJA1, SATB2, MASP1, IFT43, DISP1, IL11RA, IFT122, VAX1, ALX1, BMP4, GDF3, AXIN2, NFKBIA, CDSN, EDA, IRF6, SPECC1L, LRP2, CDC45, MEGF8, ERF, TCF12, ALX3, FOXE1, SF3B4, EDAR, WNT10A, ADAMTSL4, EDARADD, AMELX, MEOX1, EDN1, PLCB4, DLX3, GRHL3, FAM83H, MSX1, PAX9, LRP6, LTBP3, ENAM, NECTIN1, KLK4, MMP20, ODAPH, NOG, WDR72, SMOC2, KDM1A, SUMO1, TBX22, DLX4, EIF4A3, TSHZ1, HOXA2, PAX7, UBB 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 Panel GTR000531639 complete gene list SLC26A4, SECISBP2, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5, TPO, TG, TRHR, PAX9 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 Panel GTR000552665 complete gene list SLC26A4, SECISBP2, HESX1, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5, TPO, TG 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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