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Deafness-lymphedema-leukemia syndrome

MedGen UID:
481294
Concept ID:
C3279664
Disease or Syndrome
Synonyms: Emberger syndrome; Lymphedema, primary, with myelodysplasia
SNOMED CT: Emberger syndrome (700057001); Deafness - lymphedema - leukemia syndrome (700057001)
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.
 
Gene (location): GATA2 (3q21.3)
 
Monarch Initiative: MONDO:0013540
OMIM®: 614038
Orphanet: ORPHA3226

Definition

Primary lymphedema with myelodysplasia, also known as Emberger syndrome, is a rare disorder characterized by childhood-onset lymphedema of the lower limbs, with lymphoscintigraphy suggestive of lymphatic vessel hypoplasia, and genital lymphatic abnormalities. Myelodysplasia is usually with monosomy 7. Multiple warts, deafness, and minor anomalies (mild hypotelorism, neck webbing, and slender fingers) may also be present (summary by Mansour et al., 2010). [from OMIM]

Clinical features

From HPO
Leukemia
MedGen UID:
9725
Concept ID:
C0023418
Neoplastic Process
A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.
Acute myeloid leukemia
MedGen UID:
9730
Concept ID:
C0023467
Neoplastic Process
A clonal expansion of myeloid blasts in the bone marrow, blood or other tissues. The classification of acute myeloid leukemias (AMLs) encompasses four major categories: 1) AML with recurrent genetic abnormalities; 2) AML with multilineage dysplasia; 3) Therapy-related AML; 4) AML not otherwise specified. The required bone marrow or peripheral blood blast percentage for the diagnosis of AML is 20% (WHO classification)
Myelodysplasia
MedGen UID:
10231
Concept ID:
C0026985
Congenital Abnormality
Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.
Verrucae
MedGen UID:
777120
Concept ID:
C3665596
Finding
Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas.
Tapered finger
MedGen UID:
98098
Concept ID:
C0426886
Finding
The gradual reduction in girth of the finger from proximal to distal.
Long fingers
MedGen UID:
346836
Concept ID:
C1858091
Finding
The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand.
Pancytopenia
MedGen UID:
18281
Concept ID:
C0030312
Disease or Syndrome
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Cellulitis
MedGen UID:
40174
Concept ID:
C0007642
Disease or Syndrome
A bacterial infection and inflammation of the skin und subcutaneous tissues.
Decreased CD4:CD8 ratio
MedGen UID:
163125
Concept ID:
C0853905
Finding
An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells.
Lymphedema
MedGen UID:
6155
Concept ID:
C0024236
Disease or Syndrome
Localized fluid retention and tissue swelling caused by a compromised lymphatic system.
Webbed neck
MedGen UID:
113154
Concept ID:
C0221217
Congenital Abnormality
Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Hypotelorism
MedGen UID:
96107
Concept ID:
C0424711
Finding
Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeafness-lymphedema-leukemia syndrome
Follow this link to review classifications for Deafness-lymphedema-leukemia syndrome in Orphanet.

Professional guidelines

PubMed

Cuccuini W, Collonge-Rame MA, Auger N, Douet-Guilbert N, Coster L, Lafage-Pochitaloff M
Curr Res Transl Med 2023 Oct-Dec;71(4):103423. Epub 2023 Oct 18 doi: 10.1016/j.retram.2023.103423. PMID: 38016422
Roncareggi S, Girardi K, Fioredda F, Pedace L, Arcuri L, Badolato R, Bonanomi S, Borlenghi E, Cirillo E, Coliva T, Consonni F, Conti F, Farruggia P, Gambineri E, Guerra F, Locatelli F, Mancuso G, Marzollo A, Masetti R, Micalizzi C, Onofrillo D, Piccini M, Pignata C, Raddi MG, Santini V, Vendemini F, Biondi A, Saettini F
J Clin Immunol 2023 Nov;43(8):2192-2207. Epub 2023 Oct 14 doi: 10.1007/s10875-023-01583-8. PMID: 37837580
Seidel MG
Blood 2014 Oct 9;124(15):2337-44. Epub 2014 Aug 27 doi: 10.1182/blood-2014-06-583260. PMID: 25163701Free PMC Article

Recent clinical studies

Etiology

Cheloor Kovilakam S, Gu M, Dunn WG, Marando L, Barcena C, Nik-Zainal S, Mohorianu I, Kar SP, Fabre MA, Quiros PM, Vassiliou GS
Blood 2023 Oct 5;142(14):1185-1192. doi: 10.1182/blood.2023020209. PMID: 37506341
Sahoo SS, Kozyra EJ, Wlodarski MW
Best Pract Res Clin Haematol 2020 Sep;33(3):101197. Epub 2020 Jul 29 doi: 10.1016/j.beha.2020.101197. PMID: 33038986Free PMC Article
Rafei H, DiNardo CD
Best Pract Res Clin Haematol 2019 Jun;32(2):163-176. Epub 2019 May 3 doi: 10.1016/j.beha.2019.05.001. PMID: 31203998Free PMC Article
Bluteau O, Sebert M, Leblanc T, Peffault de Latour R, Quentin S, Lainey E, Hernandez L, Dalle JH, Sicre de Fontbrune F, Lengline E, Itzykson R, Clappier E, Boissel N, Vasquez N, Da Costa M, Masliah-Planchon J, Cuccuini W, Raimbault A, De Jaegere L, Adès L, Fenaux P, Maury S, Schmitt C, Muller M, Domenech C, Blin N, Bruno B, Pellier I, Hunault M, Blanche S, Petit A, Leverger G, Michel G, Bertrand Y, Baruchel A, Socié G, Soulier J
Blood 2018 Feb 15;131(7):717-732. Epub 2017 Nov 16 doi: 10.1182/blood-2017-09-806489. PMID: 29146883
Hsu AP, McReynolds LJ, Holland SM
Curr Opin Allergy Clin Immunol 2015 Feb;15(1):104-9. doi: 10.1097/ACI.0000000000000126. PMID: 25397911Free PMC Article

Diagnosis

Largeaud L, Collin M, Monselet N, Vergez F, Fregona V, Larcher L, Hirsch P, Duployez N, Bidet A, Luquet I, Bustamante J, Dufrechou S, Prade N, Nolla M, Hamelle C, Tavitian S, Habib C, Meynier M, Bellanne-Chantelot C, Donadieu J, De Fontbrune FS, Fieschi C, Ferster A, Delhommeau F, Delabesse E, Pasquet M
Haematologica 2023 Jun 1;108(6):1515-1529. doi: 10.3324/haematol.2022.282250. PMID: 36727400Free PMC Article
Henrie R, Cherniawsky H, Marcon K, Zhao EJ, Marinkovic A, Pourshahnazari P, Parkin S, Chen LYC
Am J Physiol Cell Physiol 2022 Oct 1;323(4):C1121-C1136. Epub 2022 Aug 8 doi: 10.1152/ajpcell.00356.2021. PMID: 35938681
Sahoo SS, Kozyra EJ, Wlodarski MW
Best Pract Res Clin Haematol 2020 Sep;33(3):101197. Epub 2020 Jul 29 doi: 10.1016/j.beha.2020.101197. PMID: 33038986Free PMC Article
Rafei H, DiNardo CD
Best Pract Res Clin Haematol 2019 Jun;32(2):163-176. Epub 2019 May 3 doi: 10.1016/j.beha.2019.05.001. PMID: 31203998Free PMC Article
Bluteau O, Sebert M, Leblanc T, Peffault de Latour R, Quentin S, Lainey E, Hernandez L, Dalle JH, Sicre de Fontbrune F, Lengline E, Itzykson R, Clappier E, Boissel N, Vasquez N, Da Costa M, Masliah-Planchon J, Cuccuini W, Raimbault A, De Jaegere L, Adès L, Fenaux P, Maury S, Schmitt C, Muller M, Domenech C, Blin N, Bruno B, Pellier I, Hunault M, Blanche S, Petit A, Leverger G, Michel G, Bertrand Y, Baruchel A, Socié G, Soulier J
Blood 2018 Feb 15;131(7):717-732. Epub 2017 Nov 16 doi: 10.1182/blood-2017-09-806489. PMID: 29146883

Therapy

Desai SR, Chakraborty S, Shastri A
Best Pract Res Clin Haematol 2023 Dec;36(4):101521. Epub 2023 Oct 20 doi: 10.1016/j.beha.2023.101521. PMID: 38092478
West RR, Bauer TR, Tuschong LM, Embree LJ, Calvo KR, Tillo D, Davis J, Holland SM, Hickstein DD
Blood Adv 2023 Oct 24;7(20):6351-6363. doi: 10.1182/bloodadvances.2023010458. PMID: 37595058Free PMC Article
Durkee-Shock J, Zhang A, Liang H, Wright H, Magnusson J, Garabedian E, Marsh RA, Sullivan KE, Keller MD; USIDNET Consortium
J Allergy Clin Immunol Pract 2022 May;10(5):1334-1341.e6. Epub 2022 Feb 13 doi: 10.1016/j.jaip.2022.01.042. PMID: 35172220
Magg T, Schober T, Walz C, Ley-Zaporozhan J, Facchetti F, Klein C, Hauck F
Front Immunol 2018;9:368. Epub 2018 Feb 27 doi: 10.3389/fimmu.2018.00368. PMID: 29535735Free PMC Article
Jelkmann W
Methods Enzymol 2007;435:179-97. doi: 10.1016/S0076-6879(07)35010-6. PMID: 17998055

Prognosis

Desai SR, Chakraborty S, Shastri A
Best Pract Res Clin Haematol 2023 Dec;36(4):101521. Epub 2023 Oct 20 doi: 10.1016/j.beha.2023.101521. PMID: 38092478
Largeaud L, Collin M, Monselet N, Vergez F, Fregona V, Larcher L, Hirsch P, Duployez N, Bidet A, Luquet I, Bustamante J, Dufrechou S, Prade N, Nolla M, Hamelle C, Tavitian S, Habib C, Meynier M, Bellanne-Chantelot C, Donadieu J, De Fontbrune FS, Fieschi C, Ferster A, Delhommeau F, Delabesse E, Pasquet M
Haematologica 2023 Jun 1;108(6):1515-1529. doi: 10.3324/haematol.2022.282250. PMID: 36727400Free PMC Article
Kotmayer L, Romero-Moya D, Marin-Bejar O, Kozyra E, Català A, Bigas A, Wlodarski MW, Bödör C, Giorgetti A
Br J Haematol 2022 Nov;199(4):482-495. Epub 2022 Jun 26 doi: 10.1111/bjh.18330. PMID: 35753998Free PMC Article
Sahoo SS, Kozyra EJ, Wlodarski MW
Best Pract Res Clin Haematol 2020 Sep;33(3):101197. Epub 2020 Jul 29 doi: 10.1016/j.beha.2020.101197. PMID: 33038986Free PMC Article
Bigley V, Cytlak U, Collin M
Semin Cell Dev Biol 2019 Feb;86:50-61. Epub 2018 Feb 23 doi: 10.1016/j.semcdb.2018.02.020. PMID: 29452225

Recent systematic reviews

Ziaei H, Tonkaboni A, Shamshiri A, Rezaei N
Clin Immunol 2021 Aug;229:108796. Epub 2021 Jul 14 doi: 10.1016/j.clim.2021.108796. PMID: 34271191
Johnson JA, Yu SS, Elist M, Arkfeld D, Panush RS
Clin Rheumatol 2015 Sep;34(9):1643-5. Epub 2015 Mar 5 doi: 10.1007/s10067-015-2905-2. PMID: 25739845

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