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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
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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

Turner syndrome: mechanisms and management.
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699
The Alzheimer's Disease Clinical Spectrum: Diagnosis and Management.
Atri A
Med Clin North Am 2019 Mar;103(2):263-293. doi: 10.1016/j.mcna.2018.10.009. PMID: 30704681
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

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
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
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
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

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
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
Acute aortic syndromes: diagnosis and management, an update.
Bossone E, LaBounty TM, Eagle KA
Eur Heart J 2018 Mar 1;39(9):739-749d. doi: 10.1093/eurheartj/ehx319. PMID: 29106452
Triple X syndrome: a review of the literature.
Otter M, Schrander-Stumpel CT, Curfs LM
Eur J Hum Genet 2010 Mar;18(3):265-71. Epub 2009 Jul 1 doi: 10.1038/ejhg.2009.109. PMID: 19568271Free PMC Article

Therapy

Update on Food protein-induced enterocolitis syndrome (FPIES).
Calvani M, Anania C, Bianchi A, D'Auria E, Cardinale F, Votto M, Martelli A, Tosca M, Chiappini E, Brambilla I, Miraglia Del Giudice M, Caffarelli C
Acta Biomed 2021 Nov 29;92(S7):e2021518. doi: 10.23750/abm.v92iS7.12394. PMID: 34842596Free PMC Article
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Dominguez M, Malani R
Curr Pain Headache Rep 2021 Mar 24;25(5):33. doi: 10.1007/s11916-021-00946-3. PMID: 33761013
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Evidence for the efficacy of melatonin in the treatment of primary adult sleep disorders.
Auld F, Maschauer EL, Morrison I, Skene DJ, Riha RL
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

Prognosis

The severe epilepsy syndromes of infancy: A population-based study.
Howell KB, Freeman JL, Mackay MT, Fahey MC, Archer J, Berkovic SF, Chan E, Dabscheck G, Eggers S, Hayman M, Holberton J, Hunt RW, Jacobs SE, Kornberg AJ, Leventer RJ, Mandelstam S, McMahon JM, Mefford HC, Panetta J, Riseley J, Rodriguez-Casero V, Ryan MM, Schneider AL, Smith LJ, Stark Z, Wong F, Yiu EM, Scheffer IE, Harvey AS
Epilepsia 2021 Feb;62(2):358-370. Epub 2021 Jan 21 doi: 10.1111/epi.16810. PMID: 33475165
Congenital hyperinsulinism disorders: Genetic and clinical characteristics.
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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
The Natural History of Early-onset Scoliosis.
Karol LA
J Pediatr Orthop 2019 Jul;39(Issue 6, Supplement 1 Suppl 1):S38-S43. doi: 10.1097/BPO.0000000000001351. PMID: 31169646
Jeavons Syndrome: Clinical Features and Response to Treatment.
Smith KM, Youssef PE, Wirrell EC, Nickels KC, Payne ET, Britton JW, Shin C, Cascino GD, Patterson MC, Wong-Kisiel LC
Pediatr Neurol 2018 Sep;86:46-51. Epub 2018 Jul 10 doi: 10.1016/j.pediatrneurol.2018.06.001. PMID: 30082241
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

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
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
17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature.
Rasmussen M, Vestergaard EM, Graakjaer J, Petkov Y, Bache I, Fagerberg C, Kibaek M, Svaneby D, Petersen OB, Brasch-Andersen C, Sunde L
Am J Med Genet A 2016 Nov;170(11):2934-2942. Epub 2016 Jul 13 doi: 10.1002/ajmg.a.37848. PMID: 27409573
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
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

Systematic review of COVID-19 and autoimmune thyroiditis.
Tutal E, Ozaras R, Leblebicioglu H
Travel Med Infect Dis 2022 May-Jun;47:102314. Epub 2022 Mar 18 doi: 10.1016/j.tmaid.2022.102314. PMID: 35307540Free PMC Article
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Finsterer J
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Payne LE, Gagnon DJ, Riker RR, Seder DB, Glisic EK, Morris JG, Fraser GL
Crit Care 2017 Nov 14;21(1):276. doi: 10.1186/s13054-017-1856-1. PMID: 29137682Free PMC Article
Swaddling: a systematic review.
van Sleuwen BE, Engelberts AC, Boere-Boonekamp MM, Kuis W, Schulpen TW, L'Hoir MP
Pediatrics 2007 Oct;120(4):e1097-106. doi: 10.1542/peds.2006-2083. PMID: 17908730

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