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Hypoplastic spleen

MedGen UID:
410116
Concept ID:
C1970617
Anatomical Abnormality; Finding
Synonym: Underdeveloped spleen
 
HPO: HP:0006270

Definition

Underdevelopment of the spleen. [from HPO]

Term Hierarchy

Conditions with this feature

Matthew-Wood syndrome
MedGen UID:
318679
Concept ID:
C1832661
Disease or Syndrome
Syndromic microphthalmia-9 (MCOPS9), also referred to as pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect, is characterized by bilateral clinical anophthalmia, pulmonary hypoplasia/aplasia, cardiac malformations, and diaphragmatic defects. The phenotype is variable, ranging from isolated clinical anophthalmia or microphthalmia to complex presentations involving the cardiac, pulmonary, diaphragmatic, and renal systems. At its most severe, infants are born without pulmonary structures and die soon after birth (Marcadier et al., 2015).
Stormorken syndrome
MedGen UID:
350028
Concept ID:
C1861451
Disease or Syndrome
Stormorken syndrome is an autosomal dominant disorder characterized by mild bleeding tendency due to platelet dysfunction, thrombocytopenia, anemia, asplenia, tubular aggregate myopathy, congenital miosis, and ichthyosis. Additional features may include headache or recurrent stroke-like episodes (summary by Misceo et al., 2014).
Osteocraniostenosis
MedGen UID:
356331
Concept ID:
C1865639
Disease or Syndrome
Gracile bone dysplasia (GCLEB) is a perinatally lethal condition characterized by gracile bones with thin diaphyses, premature closure of basal cranial sutures, and microphthalmia (summary by Unger et al., 2013).
MIRAGE syndrome
MedGen UID:
924576
Concept ID:
C4284088
Disease or Syndrome
MIRAGE syndrome is an acronym for the major findings of myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. Cytopenias are typically seen soon after birth; thrombocytopenia is the most common followed by anemia and pancytopenia. Recurrent infections from early infancy include pneumonia, urinary tract infection, gastroenteritis, meningitis, otitis media, dermatitis, subcutaneous abscess, and sepsis. Reported genital phenotypes in those with 46,XY karyotype included hypospadias, microphallus, bifid shawl scrotum, ambiguous genitalia, or complete female genitalia. Hypoplastic or dysgenetic ovaries have been reported in females. Gastrointestinal complications include chronic diarrhea and esophageal dysfunction. Moderate-to-severe developmental delay is reported in most affected individuals. Autonomic dysfunction and renal dysfunction are also reported.
Immunodeficiency 80 with or without congenital cardiomyopathy
MedGen UID:
1786417
Concept ID:
C5543344
Disease or Syndrome
Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80) is an autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported (summary by Baxley et al., 2021).
Ciliary dyskinesia, primary, 53
MedGen UID:
1851509
Concept ID:
C5882728
Disease or Syndrome
Primary ciliary dyskinesia-53 (CILD53) is an autosomal recessive disorder characterized by randomization of the left-right body asymmetry and respiratory symptoms (Hjeij et al., 2023).

Professional guidelines

PubMed

Rosato S, Unger S, Campos-Xavier B, Caraffi SG, Beltrami L, Pollazzon M, Ivanovski I, Castori M, Bonasoni MP, Comitini G, Nikkels PGJ, Lindstrom K, Umandap C, Superti-Furga A, Garavelli L
Genes (Basel) 2022 Jan 28;13(2) doi: 10.3390/genes13020261. PMID: 35205306Free PMC Article

Recent clinical studies

Etiology

Müller R, Steffensen T, Krstić N, Cain MA
Am J Med Genet A 2021 Jun;185(6):1903-1907. Epub 2021 Mar 22 doi: 10.1002/ajmg.a.62182. PMID: 33750016
Nebert DW, Liu Z
Hum Genomics 2019 Sep 14;13(Suppl 1):51. doi: 10.1186/s40246-019-0233-3. PMID: 31521203Free PMC Article

Diagnosis

Horita T, Kosaka N, Takaoka S, Fujii G, Fujimoto K, Koshimizu Y, Kakuda T, Shojo H, Adachi N
Tohoku J Exp Med 2022 Nov 12;258(4):287-301. Epub 2022 Oct 20 doi: 10.1620/tjem.2022.J085. PMID: 36261354
Rosato S, Unger S, Campos-Xavier B, Caraffi SG, Beltrami L, Pollazzon M, Ivanovski I, Castori M, Bonasoni MP, Comitini G, Nikkels PGJ, Lindstrom K, Umandap C, Superti-Furga A, Garavelli L
Genes (Basel) 2022 Jan 28;13(2) doi: 10.3390/genes13020261. PMID: 35205306Free PMC Article
Müller R, Steffensen T, Krstić N, Cain MA
Am J Med Genet A 2021 Jun;185(6):1903-1907. Epub 2021 Mar 22 doi: 10.1002/ajmg.a.62182. PMID: 33750016
Gosseye S, Golaire MC, Larroche JC
Dev Med Child Neurol 1982 Aug;24(4):510-8. doi: 10.1111/j.1469-8749.1982.tb13658.x. PMID: 7117710

Clinical prediction guides

Rosato S, Unger S, Campos-Xavier B, Caraffi SG, Beltrami L, Pollazzon M, Ivanovski I, Castori M, Bonasoni MP, Comitini G, Nikkels PGJ, Lindstrom K, Umandap C, Superti-Furga A, Garavelli L
Genes (Basel) 2022 Jan 28;13(2) doi: 10.3390/genes13020261. PMID: 35205306Free PMC Article
Simpson J, Zellweger H
J Med Genet 1973 Sep;10(3):303-4. doi: 10.1136/jmg.10.3.303. PMID: 4774542Free PMC Article

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