U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Brachydactyly-arterial hypertension syndrome(HTNB)

MedGen UID:
349445
•Concept ID:
C1862170
•
Disease or Syndrome
Synonyms: Bilginturan syndrome; Brachydactyly type E with short stature and hypertension; Brachydactyly with hypertension
SNOMED CT: Brachydactyly and arterial hypertension syndrome (720568003); Bilginturan brachydactyly (720568003); Bilginturan syndrome (720568003); Brachydactyly type E with short stature and hypertension (720568003)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): PDE3A (12p12.2)
 
Monarch Initiative: MONDO:0007211
OMIM®: 112410
Orphanet: ORPHA1276

Definition

The hypertension and brachydactyly syndrome (HTNB) is characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and death from stroke before age 50 years when untreated (summary by Maass et al., 2015). [from OMIM]

Clinical features

From HPO
Short phalanx of finger
MedGen UID:
163753
•Concept ID:
C0877165
•
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
See: Feature record | Search on this feature
Short metacarpal
MedGen UID:
323064
•Concept ID:
C1837084
•
Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
See: Feature record | Search on this feature
Brachydactyly type E
MedGen UID:
939359
•Concept ID:
C4315392
•
Congenital Abnormality
Brachydactyly type E comprises one or more shortened metacarpals and metatarsals (summary by Johnson et al., 2003). Another form of brachydactyly type E, BDE2 (613382), is caused by heterozygous mutation in the PTHLH gene (168470) on chromosome 12p11. Also see the hypertension and brachydactyly syndrome (112410).
See: Feature record | Search on this feature
Hypertensive disorder
MedGen UID:
6969
•Concept ID:
C0020538
•
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
See: Feature record | Search on this feature
Short stature
MedGen UID:
87607
•Concept ID:
C0349588
•
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
See: Feature record | Search on this feature
Cone-shaped epiphysis
MedGen UID:
351282
•Concept ID:
C1865037
•
Finding
Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.
See: Feature record | Search on this feature
Show allHide all

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBrachydactyly-arterial hypertension syndrome
Follow this link to review classifications for Brachydactyly-arterial hypertension syndrome in Orphanet.

Professional guidelines

PubMed

2023 ACC/AHA/ACCP/HRS Guideline for the Diagnosis and Management of Atrial Fibrillation: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.
Joglar JA, Chung MK, Armbruster AL, Benjamin EJ, Chyou JY, Cronin EM, Deswal A, Eckhardt LL, Goldberger ZD, Gopinathannair R, Gorenek B, Hess PL, Hlatky M, Hogan G, Ibeh C, Indik JH, Kido K, Kusumoto F, Link MS, Linta KT, Marcus GM, McCarthy PM, Patel N, Patton KK, Perez MV, Piccini JP, Russo AM, Sanders P, Streur MM, Thomas KL, Times S, Tisdale JE, Valente AM, Van Wagoner DR; Peer Review Committee Members
Circulation 2024 Jan 2;149(1):e1-e156. Epub 2023 Nov 30 doi: 10.1161/CIR.0000000000001193. PMID: 38033089
2023 AHA/ACC/ACCP/ASPC/NLA/PCNA Guideline for the Management of Patients With Chronic Coronary Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.
Virani SS, Newby LK, Arnold SV, Bittner V, Brewer LC, Demeter SH, Dixon DL, Fearon WF, Hess B, Johnson HM, Kazi DS, Kolte D, Kumbhani DJ, LoFaso J, Mahtta D, Mark DB, Minissian M, Navar AM, Patel AR, Piano MR, Rodriguez F, Talbot AW, Taqueti VR, Thomas RJ, van Diepen S, Wiggins B, Williams MS; Peer Review Committee Members
Circulation 2023 Aug 29;148(9):e9-e119. Epub 2023 Jul 20 doi: 10.1161/CIR.0000000000001168. PMID: 37471501
European Society of Endocrinology clinical practice guidelines on the management of adrenal incidentalomas, in collaboration with the European Network for the Study of Adrenal Tumors.
Fassnacht M, Tsagarakis S, Terzolo M, Tabarin A, Sahdev A, Newell-Price J, Pelsma I, Marina L, Lorenz K, Bancos I, Arlt W, Dekkers OM
Eur J Endocrinol 2023 Jul 20;189(1):G1-G42. doi: 10.1093/ejendo/lvad066. PMID: 37318239

Recent clinical studies

Etiology

Primary aldosteronism - a multidimensional syndrome.
Turcu AF, Yang J, Vaidya A
Nat Rev Endocrinol 2022 Nov;18(11):665-682. Epub 2022 Aug 31 doi: 10.1038/s41574-022-00730-2. PMID: 36045149
Sleep Apnea and Hypertension.
Seravalle G, Grassi G
High Blood Press Cardiovasc Prev 2022 Jan;29(1):23-31. Epub 2021 Nov 5 doi: 10.1007/s40292-021-00484-4. PMID: 34739711
Obesity, metabolic syndrome, and primary hypertension.
Litwin M, Kułaga Z
Pediatr Nephrol 2021 Apr;36(4):825-837. Epub 2020 May 9 doi: 10.1007/s00467-020-04579-3. PMID: 32388582Free PMC Article
Practice Recommendations for Diagnosis and Treatment of the Most Common Forms of Secondary Hypertension.
Rossi GP, Bisogni V, Rossitto G, Maiolino G, Cesari M, Zhu R, Seccia TM
High Blood Press Cardiovasc Prev 2020 Dec;27(6):547-560. Epub 2020 Nov 7 doi: 10.1007/s40292-020-00415-9. PMID: 33159664Free PMC Article
Preeclampsia-Pathophysiology and Clinical Presentations: JACC State-of-the-Art Review.
Ives CW, Sinkey R, Rajapreyar I, Tita ATN, Oparil S
J Am Coll Cardiol 2020 Oct 6;76(14):1690-1702. doi: 10.1016/j.jacc.2020.08.014. PMID: 33004135

Diagnosis

Primary aldosteronism - a multidimensional syndrome.
Turcu AF, Yang J, Vaidya A
Nat Rev Endocrinol 2022 Nov;18(11):665-682. Epub 2022 Aug 31 doi: 10.1038/s41574-022-00730-2. PMID: 36045149
Sleep Apnea and Hypertension.
Seravalle G, Grassi G
High Blood Press Cardiovasc Prev 2022 Jan;29(1):23-31. Epub 2021 Nov 5 doi: 10.1007/s40292-021-00484-4. PMID: 34739711
Practice Recommendations for Diagnosis and Treatment of the Most Common Forms of Secondary Hypertension.
Rossi GP, Bisogni V, Rossitto G, Maiolino G, Cesari M, Zhu R, Seccia TM
High Blood Press Cardiovasc Prev 2020 Dec;27(6):547-560. Epub 2020 Nov 7 doi: 10.1007/s40292-020-00415-9. PMID: 33159664Free PMC Article
Preeclampsia-Pathophysiology and Clinical Presentations: JACC State-of-the-Art Review.
Ives CW, Sinkey R, Rajapreyar I, Tita ATN, Oparil S
J Am Coll Cardiol 2020 Oct 6;76(14):1690-1702. doi: 10.1016/j.jacc.2020.08.014. PMID: 33004135
Genetics of Human Primary Hypertension: Focus on Hormonal Mechanisms.
Manosroi W, Williams GH
Endocr Rev 2019 Jun 1;40(3):825-856. doi: 10.1210/er.2018-00071. PMID: 30590482Free PMC Article

Therapy

Endothelin: 30 Years From Discovery to Therapy.
Barton M, Yanagisawa M
Hypertension 2019 Dec;74(6):1232-1265. Epub 2019 Nov 4 doi: 10.1161/HYPERTENSIONAHA.119.12105. PMID: 31679425
Hyperuricemia, Acute and Chronic Kidney Disease, Hypertension, and Cardiovascular Disease: Report of a Scientific Workshop Organized by the National Kidney Foundation.
Johnson RJ, Bakris GL, Borghi C, Chonchol MB, Feldman D, Lanaspa MA, Merriman TR, Moe OW, Mount DB, Sanchez Lozada LG, Stahl E, Weiner DE, Chertow GM
Am J Kidney Dis 2018 Jun;71(6):851-865. Epub 2018 Feb 27 doi: 10.1053/j.ajkd.2017.12.009. PMID: 29496260Free PMC Article
Stroke Risk Factors, Genetics, and Prevention.
Boehme AK, Esenwa C, Elkind MS
Circ Res 2017 Feb 3;120(3):472-495. doi: 10.1161/CIRCRESAHA.116.308398. PMID: 28154098Free PMC Article
Impact of Salt Intake on the Pathogenesis and Treatment of Hypertension.
Rust P, Ekmekcioglu C
Adv Exp Med Biol 2017;956:61-84. doi: 10.1007/5584_2016_147. PMID: 27757935
The management of hypertension in pregnancy.
Kattah AG, Garovic VD
Adv Chronic Kidney Dis 2013 May;20(3):229-39. doi: 10.1053/j.ackd.2013.01.014. PMID: 23928387Free PMC Article

Prognosis

Practice Recommendations for Diagnosis and Treatment of the Most Common Forms of Secondary Hypertension.
Rossi GP, Bisogni V, Rossitto G, Maiolino G, Cesari M, Zhu R, Seccia TM
High Blood Press Cardiovasc Prev 2020 Dec;27(6):547-560. Epub 2020 Nov 7 doi: 10.1007/s40292-020-00415-9. PMID: 33159664Free PMC Article
Evolution of the Primary Aldosteronism Syndrome: Updating the Approach.
Vaidya A, Carey RM
J Clin Endocrinol Metab 2020 Dec 1;105(12):3771-83. doi: 10.1210/clinem/dgaa606. PMID: 32865201Free PMC Article
Follow-up after acute Pulmonary Embolism.
Klok FA, Barco S
Hamostaseologie 2018 Feb;38(1):22-32. Epub 2018 Feb 26 doi: 10.5482/HAMO-17-06-0020. PMID: 29536477
Effects of Intensive BP Control in CKD.
Cheung AK, Rahman M, Reboussin DM, Craven TE, Greene T, Kimmel PL, Cushman WC, Hawfield AT, Johnson KC, Lewis CE, Oparil S, Rocco MV, Sink KM, Whelton PK, Wright JT Jr, Basile J, Beddhu S, Bhatt U, Chang TI, Chertow GM, Chonchol M, Freedman BI, Haley W, Ix JH, Katz LA, Killeen AA, Papademetriou V, Ricardo AC, Servilla K, Wall B, Wolfgram D, Yee J; SPRINT Research Group
J Am Soc Nephrol 2017 Sep;28(9):2812-2823. Epub 2017 Jun 22 doi: 10.1681/ASN.2017020148. PMID: 28642330Free PMC Article
Hypertension in pregnancy.
Vest AR, Cho LS
Curr Atheroscler Rep 2014 Mar;16(3):395. doi: 10.1007/s11883-013-0395-8. PMID: 24477794

Clinical prediction guides

Obesity, metabolic syndrome, and primary hypertension.
Litwin M, Kułaga Z
Pediatr Nephrol 2021 Apr;36(4):825-837. Epub 2020 May 9 doi: 10.1007/s00467-020-04579-3. PMID: 32388582Free PMC Article
Practice Recommendations for Diagnosis and Treatment of the Most Common Forms of Secondary Hypertension.
Rossi GP, Bisogni V, Rossitto G, Maiolino G, Cesari M, Zhu R, Seccia TM
High Blood Press Cardiovasc Prev 2020 Dec;27(6):547-560. Epub 2020 Nov 7 doi: 10.1007/s40292-020-00415-9. PMID: 33159664Free PMC Article
Therapeutic Approach to Hypertension Urgencies and Emergencies During Acute Coronary Syndrome.
Tocci G, Figliuzzi I, Presta V, Miceli F, Citoni B, Coluccia R, Musumeci MB, Ferrucci A, Volpe M
High Blood Press Cardiovasc Prev 2018 Sep;25(3):253-259. Epub 2018 Jul 31 doi: 10.1007/s40292-018-0275-y. PMID: 30066227
Follow-up after acute Pulmonary Embolism.
Klok FA, Barco S
Hamostaseologie 2018 Feb;38(1):22-32. Epub 2018 Feb 26 doi: 10.5482/HAMO-17-06-0020. PMID: 29536477
Portopulmonary hypertension and hepatopulmonary syndrome.
Aldenkortt F, Aldenkortt M, Caviezel L, Waeber JL, Weber A, Schiffer E
World J Gastroenterol 2014 Jul 7;20(25):8072-81. doi: 10.3748/wjg.v20.i25.8072. PMID: 25009379Free PMC Article

Recent systematic reviews

Epidemiology of Renal Cell Carcinoma: 2022 Update.
Bukavina L, Bensalah K, Bray F, Carlo M, Challacombe B, Karam JA, Kassouf W, Mitchell T, Montironi R, O'Brien T, Panebianco V, Scelo G, Shuch B, van Poppel H, Blosser CD, Psutka SP
Eur Urol 2022 Nov;82(5):529-542. Epub 2022 Sep 10 doi: 10.1016/j.eururo.2022.08.019. PMID: 36100483
Hypertensive emergencies and urgencies in emergency departments: a systematic review and meta-analysis.
Astarita A, Covella M, Vallelonga F, Cesareo M, Totaro S, Ventre L, Aprà F, Veglio F, Milan A
J Hypertens 2020 Jul;38(7):1203-1210. doi: 10.1097/HJH.0000000000002372. PMID: 32510905
The Effects of Magnesium Supplementation on Subjective Anxiety and Stress-A Systematic Review.
Boyle NB, Lawton C, Dye L
Nutrients 2017 Apr 26;9(5) doi: 10.3390/nu9050429. PMID: 28445426Free PMC Article
Oligohydramnios in complicated and uncomplicated pregnancy: a systematic review and meta-analysis.
Rabie N, Magann E, Steelman S, Ounpraseuth S
Ultrasound Obstet Gynecol 2017 Apr;49(4):442-449. doi: 10.1002/uog.15929. PMID: 27062200
Acute Aortic Dissection and Intramural Hematoma: A Systematic Review.
Mussa FF, Horton JD, Moridzadeh R, Nicholson J, Trimarchi S, Eagle KA
JAMA 2016 Aug 16;316(7):754-63. doi: 10.1001/jama.2016.10026. PMID: 27533160

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...