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Parathyroid hypoplasia

MedGen UID:
235593
Concept ID:
C1389851
Congenital Abnormality
Synonyms: Small parathyroid glands; Underdeveloped parathyroid glands
 
HPO: HP:0000860

Definition

Developmental hypoplasia of the parathyroid gland. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVParathyroid hypoplasia

Conditions with this feature

DiGeorge syndrome
MedGen UID:
4297
Concept ID:
C0012236
Disease or Syndrome
Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), palatal abnormalities (velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate), immune deficiency, characteristic facial features, and learning difficulties. Hearing loss can be sensorineural and/or conductive. Laryngotracheoesophageal, gastrointestinal, ophthalmologic, central nervous system, skeletal, and genitourinary anomalies also occur. Psychiatric illness and autoimmune disorders are more common in individuals with 22q11.2DS.
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

Toka O, Karl M, Dittrich S, Holst S, Holst A
Quintessence Int 2010 Jul-Aug;41(7):551-6. PMID: 20614041
Kinoshita H, Kokudo T, Ide T, Kondo Y, Mori T, Homma Y, Yasuda M, Tomiyama J, Yakushiji F
Seizure 2010 Jun;19(5):303-5. Epub 2010 Apr 28 doi: 10.1016/j.seizure.2010.04.005. PMID: 20430655
Graham JM Jr, Rosner B, Dykens E, Visootsak J
Am J Med Genet A 2005 Mar 15;133A(3):240-7. doi: 10.1002/ajmg.a.30543. PMID: 15637708

Diagnosis

Rosina E, Rinaldi B, Silipigni R, Bergamaschi L, Gattuso G, Signoroni S, Guerneri S, Carnevali A, Marchisio PG, Milani D
Ital J Pediatr 2021 Feb 15;47(1):31. doi: 10.1186/s13052-021-00969-x. PMID: 33588901Free PMC Article
Kinoshita H, Kokudo T, Ide T, Kondo Y, Mori T, Homma Y, Yasuda M, Tomiyama J, Yakushiji F
Seizure 2010 Jun;19(5):303-5. Epub 2010 Apr 28 doi: 10.1016/j.seizure.2010.04.005. PMID: 20430655
Graham JM Jr, Rosner B, Dykens E, Visootsak J
Am J Med Genet A 2005 Mar 15;133A(3):240-7. doi: 10.1002/ajmg.a.30543. PMID: 15637708
Stevens CA, Carey JC, Shigeoka AO
Pediatrics 1990 Apr;85(4):526-30. PMID: 2314965

Therapy

Tenhola S, Hendy GN, Valta H, Canaff L, Lee BS, Wong BY, Välimäki MJ, Cole DE, Mäkitie O
J Clin Endocrinol Metab 2015 Jul;100(7):2515-8. Epub 2015 May 20 doi: 10.1210/jc.2015-1518. PMID: 25993639

Clinical prediction guides

Stevens CA, Carey JC, Shigeoka AO
Pediatrics 1990 Apr;85(4):526-30. PMID: 2314965

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