U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Aplasia/Hypoplasia of the thymus

MedGen UID:
892728
Concept ID:
C4023796
Anatomical Abnormality
Synonyms: Absent/small thymus; Absent/underdeveloped thymus; Thymic hypoplasia or aplasia
 
HPO: HP:0010515

Definition

Absence or underdevelopment of the thymus. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAplasia/Hypoplasia of the thymus

Conditions with this feature

CHARGE association
MedGen UID:
75567
Concept ID:
C0265354
Disease or Syndrome
CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies (including deafness). Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. Life expectancy highly depends on the severity of manifestations; mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. In childhood, adolescence, and adulthood, decreased life expectancy is likely related to a combination of residual heart defects, infections, aspiration or choking, respiratory issues including obstructive and central apnea, and possibly seizures. Despite these complications, the life expectancy for many individuals can be normal.

Recent clinical studies

Etiology

Yakut T, Kilic SS, Cil E, Yapici E, Egeli U
Pediatr Surg Int 2006 Apr;22(4):380-3. Epub 2006 Feb 4 doi: 10.1007/s00383-006-1641-8. PMID: 16463032

Diagnosis

Frías JL, Frías JP, Frías PA, Martínez-Frías ML
Am J Med Genet A 2007 Dec 15;143A(24):2904-9. doi: 10.1002/ajmg.a.32071. PMID: 18000913
Yakut T, Kilic SS, Cil E, Yapici E, Egeli U
Pediatr Surg Int 2006 Apr;22(4):380-3. Epub 2006 Feb 4 doi: 10.1007/s00383-006-1641-8. PMID: 16463032

Therapy

Saeed A, Khan M, Irwin S, Fraser A
Ir J Med Sci 2011 Jun;180(2):575-7. Epub 2009 Jan 31 doi: 10.1007/s11845-009-0277-9. PMID: 19184607

Clinical prediction guides

Frías JL, Frías JP, Frías PA, Martínez-Frías ML
Am J Med Genet A 2007 Dec 15;143A(24):2904-9. doi: 10.1002/ajmg.a.32071. PMID: 18000913

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    Support Center