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Brachydactyly syndrome type E

MedGen UID:
539186
•Concept ID:
C0265312
•
Disease or Syndrome
SNOMED CT: Brachydactyly syndrome type E (63711009)

Professional guidelines

PubMed

Dietary exposure and risk assessment of polybrominated diphenyl ethers in the Republic of Korea: A nationwide study.
Hashemi S, Kang YS, Kim KW, Yang J
Sci Total Environ 2023 Jul 1;880:163325. Epub 2023 Apr 7 doi: 10.1016/j.scitotenv.2023.163325. PMID: 37030376
Genotype-Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review.
Gavril EC, Nucă I, Pânzaru MC, Ivanov AV, Mihai CT, Antoci LM, Ciobanu CG, Rusu C, Popescu R
Genes (Basel) 2023 Feb 11;14(2) doi: 10.3390/genes14020465. PMID: 36833393Free PMC Article
What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.
Pereda A, Garin I; Spanish Network for Imprinting Disorders, Perez de Nanclares G
BMC Med Genet 2018 Mar 2;19(1):32. doi: 10.1186/s12881-018-0530-z. PMID: 29499646Free PMC Article

Recent clinical studies

Etiology

Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations.
Ertl DA, de Nanclares GP, Jüppner H, Hanna P, Pagnano A, Pereda A, Rothenbuhler A, Del Sindaco G, Ruiz-Cuevas P, Audrain C, Escribano A, Berkenou J, Gleiss A, Mantovani G, Linglart A
Eur J Endocrinol 2023 Jul 20;189(1):123-131. doi: 10.1093/ejendo/lvad085. PMID: 37440712Free PMC Article
Dietary exposure and risk assessment of polybrominated diphenyl ethers in the Republic of Korea: A nationwide study.
Hashemi S, Kang YS, Kim KW, Yang J
Sci Total Environ 2023 Jul 1;880:163325. Epub 2023 Apr 7 doi: 10.1016/j.scitotenv.2023.163325. PMID: 37030376
Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.
Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Pereda A, Parrón-Pajares M, de la Torre C, Vasques GA, Funari MFA, Travessa AM, Dias P, Suarez-Ortega L, González-Buitrago J, Portillo-Najera NE, Llano-Rivas I, Martín-Frías M, Ramírez-Fernández J, Sánchez Del Pozo J, Garzón-Lorenzo L, Martos-Moreno GA, Alfaro-Iznaola C, Mulero-Collantes I, Ruiz-Ocaña P, Casano-Sancho P, Portela A, Ruiz-Pérez L, Del Pozo A, Vallespín E, Solís M, Lerario AM, González-Casado I, Ros-Pérez P, Pérez de Nanclares G, Jorge AAL, Heath KE
J Clin Endocrinol Metab 2020 Aug 1;105(8) doi: 10.1210/clinem/dgaa218. PMID: 32311039
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
Sentchordi-Montané L, Aza-Carmona M, Benito-Sanz S, Barreda-Bonis AC, Sánchez-Garre C, Prieto-Matos P, Ruiz-Ocaña P, Lechuga-Sancho A, Carcavilla-Urquí A, Mulero-Collantes I, Martos-Moreno GA, Del Pozo A, Vallespín E, Offiah A, Parrón-Pajares M, Dinis I, Sousa SB, Ros-Pérez P, González-Casado I, Heath KE
Clin Endocrinol (Oxf) 2018 Jun;88(6):820-829. Epub 2018 Mar 24 doi: 10.1111/cen.13581. PMID: 29464738
PDE3A mutations cause autosomal dominant hypertension with brachydactyly.
Maass PG, Aydin A, Luft FC, Schächterle C, Weise A, Stricker S, Lindschau C, Vaegler M, Qadri F, Toka HR, Schulz H, Krawitz PM, Parkhomchuk D, Hecht J, Hollfinger I, Wefeld-Neuenfeld Y, Bartels-Klein E, Mühl A, Kann M, Schuster H, Chitayat D, Bialer MG, Wienker TF, Ott J, Rittscher K, Liehr T, Jordan J, Plessis G, Tank J, Mai K, Naraghi R, Hodge R, Hopp M, Hattenbach LO, Busjahn A, Rauch A, Vandeput F, Gong M, Rüschendorf F, Hübner N, Haller H, Mundlos S, Bilginturan N, Movsesian MA, Klussmann E, Toka O, Bähring S
Nat Genet 2015 Jun;47(6):647-53. Epub 2015 May 11 doi: 10.1038/ng.3302. PMID: 25961942

Diagnosis

Personal Genetic-Hypertension Odyssey From Phenotypes to Genotypes and Targets.
Luft FC
Hypertension 2024 Dec;81(12):2395-2406. Epub 2024 Oct 2 doi: 10.1161/HYPERTENSIONAHA.124.21714. PMID: 39355912
Genotype-Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review.
Gavril EC, Nucă I, Pânzaru MC, Ivanov AV, Mihai CT, Antoci LM, Ciobanu CG, Rusu C, Popescu R
Genes (Basel) 2023 Feb 11;14(2) doi: 10.3390/genes14020465. PMID: 36833393Free PMC Article
Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly.
Elli FM, Mattinzoli D, Lucca C, Piu M, Maffini MA, Costanza J, Fontana L, Santaniello C, Forino C, Milani D, Bonati MT, Secco A, Gastaldi R, Alfieri C, Messa P, Miozzo M, Arosio M, Mantovani G
J Bone Miner Res 2022 Mar;37(3):465-474. Epub 2022 Jan 17 doi: 10.1002/jbmr.4490. PMID: 34897794Free PMC Article
KBG syndrome presenting with brachydactyly type E.
Libianto R, Wu KH, Devery S, Eisman JA, Center JR
Bone 2019 Jun;123:18-22. Epub 2019 Mar 12 doi: 10.1016/j.bone.2019.03.012. PMID: 30877071
Brachydactyly E: isolated or as a feature of a syndrome.
Pereda A, Garin I, Garcia-Barcina M, Gener B, Beristain E, Ibañez AM, Perez de Nanclares G
Orphanet J Rare Dis 2013 Sep 12;8:141. doi: 10.1186/1750-1172-8-141. PMID: 24028571Free PMC Article

Therapy

Reversal of cardiac and renal damage in a teenager with hypertension: A case report.
Du H, Gao S, Dong W, Huang Q, Qu H, Zhang C, Guo L, Liu Z, Liu M
J Clin Hypertens (Greenwich) 2024 Mar;26(3):295-298. Epub 2024 Feb 6 doi: 10.1111/jch.14769. PMID: 38319596Free PMC Article
Pseudohypoparathyroidism-A Rare Cause of Seizures in a Young Male.
S P, Narayanaswamy, Mathias NJ, Konan VK
J Assoc Physicians India 2023 Jan;71(1):1. PMID: 37116029
IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.
Vasques GA, Funari MFA, Ferreira FM, Aza-Carmona M, Sentchordi-Montané L, Barraza-García J, Lerario AM, Yamamoto GL, Naslavsky MS, Duarte YAO, Bertola DR, Heath KE, Jorge AAL
J Clin Endocrinol Metab 2018 Feb 1;103(2):604-614. doi: 10.1210/jc.2017-02026. PMID: 29155992
A misplaced lncRNA causes brachydactyly in humans.
Maass PG, Rump A, Schulz H, Stricker S, Schulze L, Platzer K, Aydin A, Tinschert S, Goldring MB, Luft FC, Bähring S
J Clin Invest 2012 Nov;122(11):3990-4002. Epub 2012 Oct 24 doi: 10.1172/JCI65508. PMID: 23093776Free PMC Article
Limb anomalies in chromosomal aberrations.
Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

Prognosis

Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients.
Pereda A, Elli FM, Thiele S, de Sanctis L, Rothenbuhler A, Hanna P, Francou B, Ertl DA, Perez de Nanclares G, Linglart A, Mantovani G
Eur J Endocrinol 2021 Feb;184(2):311-320. doi: 10.1530/EJE-20-0625. PMID: 33270042
Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report.
Li X, Li Z, Chen P, Wang Y, Wang DW, Wang DW
BMC Med Genet 2020 Jul 6;21(1):144. doi: 10.1186/s12881-020-01077-z. PMID: 32631253Free PMC Article
Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review.
Thomas-Teinturier C, Pereda A, Garin I, Diez-Lopez I, Linglart A, Silve C, de Nanclares GP
Am J Med Genet A 2016 Mar;170(3):734-42. Epub 2015 Dec 6 doi: 10.1002/ajmg.a.37490. PMID: 26640227
Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature.
Wang J, Wang Z, An Y, Wu C, Xu Y, Fu Q, Shen Y, Zhang Q
Clin Chim Acta 2015 Jun 15;446:9-14. Epub 2015 Mar 20 doi: 10.1016/j.cca.2015.03.019. PMID: 25801215
Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting.
Weinstein LS, Yu S, Warner DR, Liu J
Endocr Rev 2001 Oct;22(5):675-705. doi: 10.1210/edrv.22.5.0439. PMID: 11588148

Clinical prediction guides

Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations.
Ertl DA, de Nanclares GP, Jüppner H, Hanna P, Pagnano A, Pereda A, Rothenbuhler A, Del Sindaco G, Ruiz-Cuevas P, Audrain C, Escribano A, Berkenou J, Gleiss A, Mantovani G, Linglart A
Eur J Endocrinol 2023 Jul 20;189(1):123-131. doi: 10.1093/ejendo/lvad085. PMID: 37440712Free PMC Article
Genotype-Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review.
Gavril EC, Nucă I, Pânzaru MC, Ivanov AV, Mihai CT, Antoci LM, Ciobanu CG, Rusu C, Popescu R
Genes (Basel) 2023 Feb 11;14(2) doi: 10.3390/genes14020465. PMID: 36833393Free PMC Article
Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.
Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Pereda A, Parrón-Pajares M, de la Torre C, Vasques GA, Funari MFA, Travessa AM, Dias P, Suarez-Ortega L, González-Buitrago J, Portillo-Najera NE, Llano-Rivas I, Martín-Frías M, Ramírez-Fernández J, Sánchez Del Pozo J, Garzón-Lorenzo L, Martos-Moreno GA, Alfaro-Iznaola C, Mulero-Collantes I, Ruiz-Ocaña P, Casano-Sancho P, Portela A, Ruiz-Pérez L, Del Pozo A, Vallespín E, Solís M, Lerario AM, González-Casado I, Ros-Pérez P, Pérez de Nanclares G, Jorge AAL, Heath KE
J Clin Endocrinol Metab 2020 Aug 1;105(8) doi: 10.1210/clinem/dgaa218. PMID: 32311039
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
Sentchordi-Montané L, Aza-Carmona M, Benito-Sanz S, Barreda-Bonis AC, Sánchez-Garre C, Prieto-Matos P, Ruiz-Ocaña P, Lechuga-Sancho A, Carcavilla-Urquí A, Mulero-Collantes I, Martos-Moreno GA, Del Pozo A, Vallespín E, Offiah A, Parrón-Pajares M, Dinis I, Sousa SB, Ros-Pérez P, González-Casado I, Heath KE
Clin Endocrinol (Oxf) 2018 Jun;88(6):820-829. Epub 2018 Mar 24 doi: 10.1111/cen.13581. PMID: 29464738
Nonsyndromic brachydactyly type D and type E mapped to 7p15 in healthy children and adults from the Jirel ethnic group in eastern Nepal.
Williams KD, Blangero J, Subedi J, Jha B, Dyer T, Vandeberg JL, Towne B, Williams-Blangero S
Am J Hum Biol 2013 Nov-Dec;25(6):743-50. Epub 2013 Sep 10 doi: 10.1002/ajhb.22441. PMID: 24022874Free PMC Article

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