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Delayed umbilical cord separation

MedGen UID:
Concept ID:
Pathologic Function
Synonym: Delayed separation of umbilical cord
SNOMED CT: Delayed separation of umbilical cord (114961000119106)
HPO: HP:0032434


Separation of the umbilical cord occurs at an abnormally late timepoint. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDelayed umbilical cord separation

Conditions with this feature

Leukocyte adhesion deficiency 1
MedGen UID:
Concept ID:
Disease or Syndrome
Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression. Genetic Heterogeneity of Leukocyte Adhesion Deficiency Also see LAD2 (266265), caused by mutation in the SLC35C1 gene (605881), and LAD3 (612840), caused by mutation in the FERMT3 gene (607901).
Neutrophil immunodeficiency syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Immunodeficiency-73A with defective neutrophil chemotaxis and leukocytosis (IMD73A) is an immunologic disorder characterized by onset of recurrent infections in early infancy. Affected infants have periumbilical erythema and later develop skin abscesses and invasive infections. Laboratory studies show leukocytosis, neutrophilia, decreased TRECs, and T-cell abnormalities. Neutrophils showed decreased chemotaxis associated with actin polymerization abnormalities, as well as variably impaired oxidative responses. Hematopoietic stem cell transplant may be curative (summary by Accetta et al., 2011; review by Lougaris et al., 2020). In a review of autosomal forms of chronic granulomatous disease (see 306400 for genetic heterogeneity of CGD), Roos et al. (2021) noted that patients with RAC2 mutations may manifest CGD-like symptoms due to defects in neutrophil NADPH oxidase activity.
Pyogenic bacterial infections due to MyD88 deficiency
MedGen UID:
Concept ID:
Disease or Syndrome
Immunodeficiency-68 (IMD68) is an autosomal recessive primary immunodeficiency characterized by severe systemic and invasive bacterial infections beginning in infancy or early childhood. The most common organisms implicated are Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas, although other organisms may be observed. IMD68 is life-threatening in infancy and early childhood. The first invasive infection typically occurs before 2 years of age, with meningitis and upper respiratory infections being common manifestations. The mortality rate in early childhood is high, with most deaths occurring before 8 years of age. Affected individuals have an impaired inflammatory response to infection, including lack of fever and neutropenia, although erythrocyte sedimentation rate (ESR) and C-reactive protein may be elevated. General immunologic workup tends to be normal, with normal levels of B cells, T cells, and NK cells. However, more detailed studies indicate impaired cytokine response to lipopolysaccharide (LPS) and IL1B (147720) stimulation; response to TNFA (191160) is usually normal. Patients have good antibody responses to most vaccinations. Viral, fungal, and parasitic infections are generally not observed. Early detection is critical in early childhood because prophylactic treatment with IVIg or certain antibiotics is effective; the disorder tends to improve naturally around adolescence. At the molecular level, IMD68 results from impaired function of selective Toll receptor (see TLR4, 603030)/IL1R (see IL1R1; 147810) signaling pathways that ultimately activate NFKB (164011) to produce cytokines (summary by Picard et al., 2010). See also IMD67 (607676), caused by mutation in the IRAK4 gene (602170), which shows a similar phenotype to IMD68. As the MYD88 and IRAK4 genes interact in the same intracellular signaling pathway, the clinical and cellular features are almost indistinguishable (summary by Picard et al., 2010).
Specific granule deficiency 2
MedGen UID:
Concept ID:
Disease or Syndrome
Specific granule deficiency-2 (SGD2) is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include paucity of neutrophil granulocytes, absence of granule proteins in neutrophils, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and patients may die in early childhood unless they undergo hematopoietic stem cell transplantation. Most patients have additional findings, including delayed development, mild dysmorphic features, tooth abnormalities, and distal skeletal defects (Witzel et al., 2017). For a discussion of genetic heterogeneity of SGD, see SGD1 (245480).
Hyper-IgE recurrent infection syndrome 4A, autosomal dominant
MedGen UID:
Concept ID:
Disease or Syndrome
Hyper-IgE syndrome-4A with recurrent infections (HIES4A) is an autosomal dominant immunologic disorder characterized by recurrent, mainly sinopulmonary infections associated with increased serum IgE. The phenotype is variable, even within families. Some patients have onset of symptoms in early childhood and develop complications, including bronchiectasis or hemoptysis, whereas others have later onset of less severe infections. Immunologic workup usually shows normal leukocyte levels, although some patients may demonstrate alterations in lymphocyte subsets, including T cells. Affected individuals also have variable skeletal abnormalities, including high-arched palate, hyperextensible joints, scoliosis, and bone fractures. The IL6ST mutations are loss-of-function, although the truncated mutant proteins are expressed and interfere with the wildtype protein in a dominant-negative manner by disrupting IL6 (147620) and IL11 (147681) signaling (summary by Beziat et al., 2020). For a discussion of genetic heterogeneity of hyper-IgE syndrome, see HIES1 (147060).

Professional guidelines


Alfaro-Sepúlveda D, Salinas PP, Valenzuela F, Gonzalez CG, Burckhardt-Bravo V, Ferrari-Sande D
Australas J Dermatol 2024 Jun;65(4):305-310. Epub 2024 Feb 13 doi: 10.1111/ajd.14219. PMID: 38351550

Recent clinical studies


Akbari H, Zadeh MM
Indian J Pediatr 2001 Jan;68(1):77-9. doi: 10.1007/BF02728867. PMID: 11237241


Fazlollahi MR, Hamidieh AA, Moradi L, Shokouhi Shoormati R, Sabetkish N, Esmaeili B, Badalzadeh M, Alizadeh Z, Shamlou S, Movahedi M, Mahloujirad M, Razaghian A, Arshi S, Gharagozlou M, Kalantari A, Bemanian MH, Safari M, Heidarzadeh Arani M, Nabavi M, Parvaneh N, Sadeghi-Shabestari M, Behfar M, Behniafard N, Sherkat R, Ahmadian Heris J, Shariat M, Radmehr R, Houshmand M, Kazemnejad A, Molitor A, Carapito R, Bahram S, Pourpak Z, Moin M
Pediatr Allergy Immunol 2023 Jul;34(7):e13990. doi: 10.1111/pai.13990. PMID: 37492921
Bashir MM, Hussain M, Ahmad D, Tipu HN
J Coll Physicians Surg Pak 2018 Jun;28(6):S87-S88. doi: 10.29271/jcpsp.2018.06.S87. PMID: 29866230
Sameshima T, Iwatani S, Fukushima S, Taniguchi-Ikeda M, Hashimoto M, Yurugi K, Iijima K, Morioka I
Clin Lab 2016 Nov 1;62(11):2249-2252. doi: 10.7754/Clin.Lab.2016.160422. PMID: 28164680
Webber EC, Church J, Rand TH, Shah AJ
J Paediatr Child Health 2007 May;43(5):406-8. doi: 10.1111/j.1440-1754.2007.01089.x. PMID: 17489834
Akbari H, Zadeh MM
Indian J Pediatr 2001 Jan;68(1):77-9. doi: 10.1007/BF02728867. PMID: 11237241


Alfaro-Sepúlveda D, Salinas PP, Valenzuela F, Gonzalez CG, Burckhardt-Bravo V, Ferrari-Sande D
Australas J Dermatol 2024 Jun;65(4):305-310. Epub 2024 Feb 13 doi: 10.1111/ajd.14219. PMID: 38351550
Platt CD, Zaman F, Wallace JG, Seleman M, Chou J, Al Sukaiti N, Geha RS
Clin Immunol 2019 Oct;207:40-42. Epub 2019 Jul 10 doi: 10.1016/j.clim.2019.07.004. PMID: 31301515Free PMC Article


Vasconcelos Dde M, Beitler B, Martinez GA, Pereira J, Amigo Filho JU, Klautau GB, Lian YC, Della Negra M, Duarte AJ
Blood Cells Mol Dis 2014 Dec;53(4):180-4. Epub 2014 Aug 5 doi: 10.1016/j.bcmd.2014.07.005. PMID: 25106692

Clinical prediction guides

Hawkins HK, Heffelfinger SC, Anderson DC
Pediatr Pathol 1992 Jan-Feb;12(1):119-30. doi: 10.3109/15513819209023288. PMID: 1348581
Anderson DC, Schmalstieg FC, Shearer W, Becker-Freeman K, Kohl S, Smith CW, Tosi MF, Springer T
Fed Proc 1985 Jul;44(10):2671-7. PMID: 3891420

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