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Pancytopenia-developmental delay syndrome(BMFS2)

MedGen UID:
816680
•Concept ID:
C3810350
•
Disease or Syndrome
Synonym: Bone marrow failure syndrome 2
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)
 
Gene (location): ERCC6L2 (9q22.32)
 
Monarch Initiative: MONDO:0014317
OMIM®: 615715
Orphanet: ORPHA401764

Definition

Bone marrow failure syndrome-2 is an autosomal recessive disorder characterized by trilineage bone marrow failure, learning disabilities, and microcephaly. Cutaneous features and increased chromosome breakage are not features (Tummala et al., 2014). For a discussion of genetic heterogeneity of BMFS, see BMFS1 (614675). [from OMIM]

Clinical features

From HPO
Anemia
MedGen UID:
1526
•Concept ID:
C0002871
•
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
See: Feature record | Search on this feature
Thrombocytopenia
MedGen UID:
52737
•Concept ID:
C0040034
•
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
See: Feature record | Search on this feature
Bone marrow hypocellularity
MedGen UID:
383749
•Concept ID:
C1855710
•
Finding
A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.
See: Feature record | Search on this feature
Neonatal hypotonia
MedGen UID:
412209
•Concept ID:
C2267233
•
Disease or Syndrome
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
See: Feature record | Search on this feature
Microcephaly
MedGen UID:
1644158
•Concept ID:
C4551563
•
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
See: Feature record | Search on this feature
Leukopenia
MedGen UID:
6073
•Concept ID:
C0023530
•
Disease or Syndrome
An abnormal decreased number of leukocytes in the blood.
See: Feature record | Search on this feature
Cutaneous photosensitivity
MedGen UID:
87601
•Concept ID:
C0349506
•
Pathologic Function
An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPancytopenia-developmental delay syndrome
Follow this link to review classifications for Pancytopenia-developmental delay syndrome in Orphanet.

Professional guidelines

PubMed

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Nierenberg AA, Agustini B, Köhler-Forsberg O, Cusin C, Katz D, Sylvia LG, Peters A, Berk M
JAMA 2023 Oct 10;330(14):1370-1380. doi: 10.1001/jama.2023.18588. PMID: 37815563
Recommendations From the 2023 International Evidence-based Guideline for the Assessment and Management of Polycystic Ovary Syndrome.
Teede HJ, Tay CT, Laven JJE, Dokras A, Moran LJ, Piltonen TT, Costello MF, Boivin J, Redman LM, Boyle JA, Norman RJ, Mousa A, Joham AE
J Clin Endocrinol Metab 2023 Sep 18;108(10):2447-2469. doi: 10.1210/clinem/dgad463. PMID: 37580314Free PMC Article
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article

Recent clinical studies

Etiology

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Acute Aortic Syndrome Revisited: JACC State-of-the-Art Review.
Vilacosta I, San Román JA, di Bartolomeo R, Eagle K, Estrera AL, Ferrera C, Kaji S, Nienaber CA, Riambau V, Schäfers HJ, Serrano FJ, Song JK, Maroto L
J Am Coll Cardiol 2021 Nov 23;78(21):2106-2125. doi: 10.1016/j.jacc.2021.09.022. PMID: 34794692
Diagnosis and management of acute aortic syndromes in the emergency department.
Morello F, Santoro M, Fargion AT, Grifoni S, Nazerian P
Intern Emerg Med 2021 Jan;16(1):171-181. Epub 2020 May 1 doi: 10.1007/s11739-020-02354-8. PMID: 32358680
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Am J Med Genet C Semin Med Genet 2019 Dec;181(4):682-692. Epub 2019 Aug 14 doi: 10.1002/ajmg.c.31737. PMID: 31414570Free PMC Article
Gastroparesis.
Camilleri M, Chedid V, Ford AC, Haruma K, Horowitz M, Jones KL, Low PA, Park SY, Parkman HP, Stanghellini V
Nat Rev Dis Primers 2018 Nov 1;4(1):41. doi: 10.1038/s41572-018-0038-z. PMID: 30385743

Diagnosis

Diagnosis and Management of Acute Aortic Syndromes: Dissection, Penetrating Aortic Ulcer, and Intramural Hematoma.
Sorber R, Hicks CW
Curr Cardiol Rep 2022 Mar;24(3):209-216. Epub 2022 Jan 14 doi: 10.1007/s11886-022-01642-3. PMID: 35029783Free PMC Article
Diagnosis and management of acute aortic syndromes in the emergency department.
Morello F, Santoro M, Fargion AT, Grifoni S, Nazerian P
Intern Emerg Med 2021 Jan;16(1):171-181. Epub 2020 May 1 doi: 10.1007/s11739-020-02354-8. PMID: 32358680
Congenital hyperinsulinism disorders: Genetic and clinical characteristics.
Rosenfeld E, Ganguly A, De Leon DD
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48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome.
Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P
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Triple X syndrome: a review of the literature.
Otter M, Schrander-Stumpel CT, Curfs LM
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Therapy

Maternal fever in labor: etiologies, consequences, and clinical management.
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Am J Obstet Gynecol 2023 May;228(5S):S1274-S1282. Epub 2023 Mar 20 doi: 10.1016/j.ajog.2022.11.002. PMID: 36997396
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Sleep Med Rev 2017 Aug;34:10-22. Epub 2016 Jul 20 doi: 10.1016/j.smrv.2016.06.005. PMID: 28648359
Early enteral nutrition in critically ill patients: ESICM clinical practice guidelines.
Reintam Blaser A, Starkopf J, Alhazzani W, Berger MM, Casaer MP, Deane AM, Fruhwald S, Hiesmayr M, Ichai C, Jakob SM, Loudet CI, Malbrain ML, Montejo González JC, Paugam-Burtz C, Poeze M, Preiser JC, Singer P, van Zanten AR, De Waele J, Wendon J, Wernerman J, Whitehouse T, Wilmer A, Oudemans-van Straaten HM; ESICM Working Group on Gastrointestinal Function
Intensive Care Med 2017 Mar;43(3):380-398. Epub 2017 Feb 6 doi: 10.1007/s00134-016-4665-0. PMID: 28168570Free PMC Article
Melatonin for the prevention and treatment of jet lag.
Herxheimer A, Petrie KJ
Cochrane Database Syst Rev 2002;(2):CD001520. doi: 10.1002/14651858.CD001520. PMID: 12076414

Prognosis

Congenital hyperinsulinism disorders: Genetic and clinical characteristics.
Rosenfeld E, Ganguly A, De Leon DD
Am J Med Genet C Semin Med Genet 2019 Dec;181(4):682-692. Epub 2019 Aug 14 doi: 10.1002/ajmg.c.31737. PMID: 31414570Free PMC Article
Neonatal jaundice.
McKiernan P
Clin Res Hepatol Gastroenterol 2012 Jun;36(3):253-6. Epub 2012 May 18 doi: 10.1016/j.clinre.2012.03.018. PMID: 22609294
Clinically isolated syndromes.
Miller DH, Chard DT, Ciccarelli O
Lancet Neurol 2012 Feb;11(2):157-69. doi: 10.1016/S1474-4422(11)70274-5. PMID: 22265211
Alström syndrome.
Marshall JD, Beck S, Maffei P, Naggert JK
Eur J Hum Genet 2007 Dec;15(12):1193-202. Epub 2007 Oct 17 doi: 10.1038/sj.ejhg.5201933. PMID: 17940554
Genetics and developmental delay.
Macmillan C
Semin Pediatr Neurol 1998 Mar;5(1):39-44. doi: 10.1016/s1071-9091(98)80017-x. PMID: 9548640

Clinical prediction guides

Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.
Sanchez-Jimeno C, Blanco-Kelly F, López-Grondona F, Losada-Del Pozo R, Moreno B, Rodrigo-Moreno M, Martinez-Cayuelas E, Riveiro-Alvarez R, Fenollar-Cortés M, Ayuso C, Rodríguez de Alba M, Lorda-Sanchez I, Almoguera B
Genes (Basel) 2021 Aug 30;12(9) doi: 10.3390/genes12091360. PMID: 34573342Free PMC Article
ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
Yates TM, Drucker M, Barnicoat A, Low K, Gerkes EH, Fry AE, Parker MJ, O'Driscoll M, Charles P, Cox H, Marey I, Keren B, Rinne T, McEntagart M, Ramachandran V, Drury S, Vansenne F, Sival DA, Herkert JC, Callewaert B, Tan WH, Balasubramanian M
Hum Mutat 2020 May;41(5):1042-1050. Epub 2020 Mar 5 doi: 10.1002/humu.24001. PMID: 32097528
Congenital hyperinsulinism disorders: Genetic and clinical characteristics.
Rosenfeld E, Ganguly A, De Leon DD
Am J Med Genet C Semin Med Genet 2019 Dec;181(4):682-692. Epub 2019 Aug 14 doi: 10.1002/ajmg.c.31737. PMID: 31414570Free PMC Article
Dystonia-plus syndromes.
Asmus F, Gasser T
Eur J Neurol 2010 Jul;17 Suppl 1:37-45. doi: 10.1111/j.1468-1331.2010.03049.x. PMID: 20590807
Sotos syndrome.
Baujat G, Cormier-Daire V
Orphanet J Rare Dis 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. PMID: 17825104Free PMC Article

Recent systematic reviews

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Congenital myasthenic syndromes.
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Swaddling: a systematic review.
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