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Aplasia/Hypoplasia of the spleen

MedGen UID:: 869396
•Concept ID:: C4023823
•: Anatomical Abnormality

Synonyms:	Absent/small spleen; Absent/underdeveloped spleen

HPO:	HP:0010451

Definition

Absence or underdevelopment of the spleen. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAplasia/Hypoplasia of the spleen

Phenotypic abnormality
- Abnormality of the immune system
  - Abnormality of the lymphatic system
    - Abnormality of the spleen
      - Abnormal spleen morphology
        Aplasia/Hypoplasia of the spleen
        Asplenia
        Hypoplastic spleen

Recent clinical studies

Etiology

Parietal bone agenesis with gracile bones and splenic hypoplasia/aplasia: clinico-pathologic report and differential diagnosis with review of cranio-gracile bone syndromes, "osteocraniostenosis" and Kleeblattschädel.

Spear GS
Am J Med Genet A 2006 Nov 1;140(21):2341-8. doi: 10.1002/ajmg.a.31473. PMID: 17036309

Diagnosis

Parietal bone agenesis with gracile bones and splenic hypoplasia/aplasia: clinico-pathologic report and differential diagnosis with review of cranio-gracile bone syndromes, "osteocraniostenosis" and Kleeblattschädel.

Spear GS
Am J Med Genet A 2006 Nov 1;140(21):2341-8. doi: 10.1002/ajmg.a.31473. PMID: 17036309

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