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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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Recommendations From the 2023 International Evidence-based Guideline for the Assessment and Management of Polycystic Ovary Syndrome.
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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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Diagnosis

Benign paroxysmal torticollis.
Yates T
Handb Clin Neurol 2023;198:241-247. doi: 10.1016/B978-0-12-823356-6.00013-5. PMID: 38043967
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Tardive syndromes.
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Thoracic Aortic Syndromes.
Strayer RJ
Emerg Med Clin North Am 2017 Nov;35(4):713-725. doi: 10.1016/j.emc.2017.06.002. PMID: 28987425

Therapy

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Prognosis

Congenital hyperinsulinism disorders: Genetic and clinical characteristics.
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Small intestinal neoplasms.
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Organophosphorus insecticide poisoning.
Senanayake N
Ceylon Med J 1998 Mar;43(1):22-9. PMID: 9624840

Clinical prediction guides

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Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA
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