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Braddock syndrome

MedGen UID:
333986
•Concept ID:
C1842082
•
Disease or Syndrome
Synonym: Vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0012032
OMIM®: 608406
Orphanet: ORPHA52047

Definition

Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBraddock syndrome
Follow this link to review classifications for Braddock syndrome in Orphanet.

Professional guidelines

PubMed

A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.
Vocke CD, Fleming LR, Piskorski AM, Amin A, Phornphutkul C, de la Monte S, Vilboux T, Duncan F, Pellegrino J, Braddock B, Middelton LA, Schmidt LS, Merino MJ, Cowen EW, Introne WJ, Linehan WM, Smith ACM
Am J Med Genet A 2023 Feb;191(2):490-497. Epub 2022 Dec 13 doi: 10.1002/ajmg.a.63049. PMID: 36513625Free PMC Article
Health Care Supervision for Children With Williams Syndrome.
Morris CA, Braddock SR; COUNCIL ON GENETICS
Pediatrics 2020 Feb;145(2) Epub 2020 Jan 21 doi: 10.1542/peds.2019-3761. PMID: 31964759
Health supervision for children with Down syndrome.
Bull MJ; Committee on Genetics
Pediatrics 2011 Aug;128(2):393-406. Epub 2011 Jul 25 doi: 10.1542/peds.2011-1605. PMID: 21788214

Recent clinical studies

Etiology

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O'Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, Al Saffar M, Millan F, Harris DJ, Murphy AV, Klemp KC, Braddock SR, Brand H, Wong I, Talkowski ME, O'Donnell-Luria A, Lai A, Hill RS, Mochida GH, Doan RN, Barkovich AJ, Yang E, Amrom D, Andermann E, Poduri A, Walsh CA; Polymicrogyria Genetics Research Network
JAMA Neurol 2023 Sep 1;80(9):980-988. doi: 10.1001/jamaneurol.2023.2363. PMID: 37486637Free PMC Article
A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.
Vocke CD, Fleming LR, Piskorski AM, Amin A, Phornphutkul C, de la Monte S, Vilboux T, Duncan F, Pellegrino J, Braddock B, Middelton LA, Schmidt LS, Merino MJ, Cowen EW, Introne WJ, Linehan WM, Smith ACM
Am J Med Genet A 2023 Feb;191(2):490-497. Epub 2022 Dec 13 doi: 10.1002/ajmg.a.63049. PMID: 36513625Free PMC Article
Rare SUZ12 variants commonly cause an overgrowth phenotype.
Cyrus SS, Cohen ASA, Agbahovbe R, Avela K, Yeung KS, Chung BHY, Luk HM, Tkachenko N, Choufani S, Weksberg R, Lopez-Rangel E; C.A.U.S.E.S. Study, Brown K, Saenz MS, Svihovec S, McCandless SE, Bird LM, Garcia AG, Gambello MJ, McWalter K, Schnur RE, An J, Jones SJM, Bhalla SK, Pinz H, Braddock SR, Gibson WT
Am J Med Genet C Semin Med Genet 2019 Dec;181(4):532-547. Epub 2019 Nov 17 doi: 10.1002/ajmg.c.31748. PMID: 31736240
Comparative efficacy of vasoconstrictor therapies for type 1 hepatorenal syndrome: a network meta-analysis.
Zheng JN, Han YJ, Zou TT, Zhou YJ, Sun DQ, Zhong JH, Braddock M, Zheng MH
Expert Rev Gastroenterol Hepatol 2017 Nov;11(11):1009-1018. Epub 2017 Jul 27 doi: 10.1080/17474124.2017.1356223. PMID: 28708431
Health supervision for children with fragile X syndrome.
Hersh JH, Saul RA; Committee on Genetics
Pediatrics 2011 May;127(5):994-1006. Epub 2011 Apr 25 doi: 10.1542/peds.2010-3500. PMID: 21518720

Diagnosis

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O'Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, Al Saffar M, Millan F, Harris DJ, Murphy AV, Klemp KC, Braddock SR, Brand H, Wong I, Talkowski ME, O'Donnell-Luria A, Lai A, Hill RS, Mochida GH, Doan RN, Barkovich AJ, Yang E, Amrom D, Andermann E, Poduri A, Walsh CA; Polymicrogyria Genetics Research Network
JAMA Neurol 2023 Sep 1;80(9):980-988. doi: 10.1001/jamaneurol.2023.2363. PMID: 37486637Free PMC Article
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL 2nd, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S; Genomics England Research Consortium, Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TS
Genet Med 2021 Nov;23(11):2122-2137. Epub 2021 Aug 3 doi: 10.1038/s41436-021-01246-2. PMID: 34345025Free PMC Article
Health Care Supervision for Children With Williams Syndrome.
Morris CA, Braddock SR; COUNCIL ON GENETICS
Pediatrics 2020 Feb;145(2) Epub 2020 Jan 21 doi: 10.1542/peds.2019-3761. PMID: 31964759
Braddock-Carey syndrome: A 21q22 contiguous gene syndrome encompassing RUNX1.
Braddock SR, South ST, Schiffman JD, Longhurst M, Rowe LR, Carey JC
Am J Med Genet A 2016 Oct;170(10):2580-6. Epub 2016 Aug 23 doi: 10.1002/ajmg.a.37870. PMID: 27549381
Health supervision for children with Down syndrome.
Bull MJ; Committee on Genetics
Pediatrics 2011 Aug;128(2):393-406. Epub 2011 Jul 25 doi: 10.1542/peds.2011-1605. PMID: 21788214

Therapy

Extraskeletal Calcifications in Hutchinson-Gilford Progeria Syndrome.
Gordon CM, Cleveland RH, Baltrusaitis K, Massaro J, D'Agostino RB Sr, Liang MG, Snyder B, Walters M, Li X, Braddock DT, Kleinman ME, Kieran MW, Gordon LB
Bone 2019 Aug;125:103-111. Epub 2019 May 8 doi: 10.1016/j.bone.2019.05.008. PMID: 31077852Free PMC Article
Comparative efficacy of vasoconstrictor therapies for type 1 hepatorenal syndrome: a network meta-analysis.
Zheng JN, Han YJ, Zou TT, Zhou YJ, Sun DQ, Zhong JH, Braddock M, Zheng MH
Expert Rev Gastroenterol Hepatol 2017 Nov;11(11):1009-1018. Epub 2017 Jul 27 doi: 10.1080/17474124.2017.1356223. PMID: 28708431
Pregnancy outcome in women exposed to leflunomide before or during pregnancy.
Cassina M, Johnson DL, Robinson LK, Braddock SR, Xu R, Jimenez JL, Mirrasoul N, Salas E, Luo YJ, Jones KL, Chambers CD; Organization of Teratology Information Specialists Collaborative Research Group
Arthritis Rheum 2012 Jul;64(7):2085-94. doi: 10.1002/art.34419. PMID: 22307734
Knowledge and attitudes about fetal alcohol syndrome, fetal alcohol spectrum disorders, and alcohol use during pregnancy by occupational therapists in the Midwest.
Rudeen PK, Cook K, Mengel MB, Ulione M, Wedding D, Braddock S, Ohlemiller M
J Allied Health 2007 Fall;36(3):e203-20. PMID: 19759993
Generalized nodular cutaneous pseudolymphoma associated with phenytoin therapy. Use of T-cell receptor gene rearrangement in diagnosis and clinical review of cutaneous reactions to phenytoin.
Braddock SW, Harrington D, Vose J
J Am Acad Dermatol 1992 Aug;27(2 Pt 2):337-40. PMID: 1517500

Prognosis

Braddock-Carey syndrome: A 21q22 contiguous gene syndrome encompassing RUNX1.
Braddock SR, South ST, Schiffman JD, Longhurst M, Rowe LR, Carey JC
Am J Med Genet A 2016 Oct;170(10):2580-6. Epub 2016 Aug 23 doi: 10.1002/ajmg.a.37870. PMID: 27549381
Metabolic syndrome contributes to an increased recurrence risk of non-metastatic colorectal cancer.
You J, Liu WY, Zhu GQ, Wang OC, Ma RM, Huang GQ, Shi KQ, Guo GL, Braddock M, Zheng MH
Oncotarget 2015 Aug 14;6(23):19880-90. doi: 10.18632/oncotarget.4166. PMID: 26082438Free PMC Article
Health supervision for children with fragile X syndrome.
Hersh JH, Saul RA; Committee on Genetics
Pediatrics 2011 May;127(5):994-1006. Epub 2011 Apr 25 doi: 10.1542/peds.2010-3500. PMID: 21518720
Petty syndrome and Fontaine-Farriaux syndrome: Delineation of a single syndrome.
Braddock SR, Ardinger HH, Yang CS, Paschal BM, Hall BD
Am J Med Genet A 2010 Jul;152A(7):1718-23. doi: 10.1002/ajmg.a.33468. PMID: 20583180
Radiological features in Brachmann-de Lange syndrome.
Braddock SR, Lachman RS, Stoppenhagen CC, Carey JC, Ireland M, Moeschler JB, Cunniff C, Graham JM Jr
Am J Med Genet 1993 Nov 15;47(7):1006-13. doi: 10.1002/ajmg.1320470714. PMID: 8291513

Clinical prediction guides

Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype.
Takenouchi T, Miura K, Uehara T, Mizuno S, Kosaki K
Am J Med Genet A 2016 Oct;170(10):2587-90. Epub 2016 Jun 3 doi: 10.1002/ajmg.a.37761. PMID: 27256762
Instability of isochromosome 4p in a child with pure trisomy 4p syndrome features and entire 4q-arm translocation.
Pota P, Grammatopoulou V, Torti E, Braddock S, Batanian JR
Cytogenet Genome Res 2014;144(4):280-4. Epub 2015 Jan 28 doi: 10.1159/000371606. PMID: 25632983
Pregnancy outcome in women exposed to leflunomide before or during pregnancy.
Cassina M, Johnson DL, Robinson LK, Braddock SR, Xu R, Jimenez JL, Mirrasoul N, Salas E, Luo YJ, Jones KL, Chambers CD; Organization of Teratology Information Specialists Collaborative Research Group
Arthritis Rheum 2012 Jul;64(7):2085-94. doi: 10.1002/art.34419. PMID: 22307734
Translating the Diabetes Prevention Program into an urban medically underserved community: a nonrandomized prospective intervention study.
Seidel MC, Powell RO, Zgibor JC, Siminerio LM, Piatt GA
Diabetes Care 2008 Apr;31(4):684-9. Epub 2008 Feb 5 doi: 10.2337/dc07-1869. PMID: 18252904
Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.
Schimmenti LA, Cunliffe HE, McNoe LA, Ward TA, French MC, Shim HH, Zhang YH, Proesmans W, Leys A, Byerly KA, Braddock SR, Masuno M, Imaizumi K, Devriendt K, Eccles MR
Am J Hum Genet 1997 Apr;60(4):869-78. PMID: 9106533Free PMC Article

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