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Fetal iodine deficiency disorder(FIDD)

MedGen UID:
83336
Concept ID:
C0342200
Disease or Syndrome
Synonyms: Endemic Cretinism; FIDD
SNOMED CT: Endemic cretinism (75065003)
 
OMIM®: 228355

Definition

Severely reduced physical and mental growth associated with pyramidal and extrapyramidal signs and symptoms, due to dietary iodine deficiency. [from NCI]

Clinical features

From HPO
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Spastic diplegia
MedGen UID:
44181
Concept ID:
C0023882
Disease or Syndrome
Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding
Congenital hypothyroidism
MedGen UID:
41344
Concept ID:
C0010308
Disease or Syndrome
Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.\n\nSigns and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. If treatment begins in the first two weeks after birth, infants usually develop normally.\n\nCongenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism.\n\nCongenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome.
Congenital goiter
MedGen UID:
91147
Concept ID:
C0349476
Disease or Syndrome
An enlargement of the thyroid gland with congenital onset.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFetal iodine deficiency disorder
Follow this link to review classifications for Fetal iodine deficiency disorder in Orphanet.

Professional guidelines

PubMed

Lauffer P, Zwaveling-Soonawala N, Naafs JC, Boelen A, van Trotsenburg ASP
Front Endocrinol (Lausanne) 2021;12:686317. Epub 2021 Sep 9 doi: 10.3389/fendo.2021.686317. PMID: 34566885Free PMC Article
van Trotsenburg P, Stoupa A, Léger J, Rohrer T, Peters C, Fugazzola L, Cassio A, Heinrichs C, Beauloye V, Pohlenz J, Rodien P, Coutant R, Szinnai G, Murray P, Bartés B, Luton D, Salerno M, de Sanctis L, Vigone M, Krude H, Persani L, Polak M
Thyroid 2021 Mar;31(3):387-419. doi: 10.1089/thy.2020.0333. PMID: 33272083Free PMC Article
Wassner AJ
Paediatr Drugs 2017 Aug;19(4):291-301. doi: 10.1007/s40272-017-0238-0. PMID: 28534114

Recent clinical studies

Etiology

Gao J, Zhang F, Guo T, Gao X, Duan S, Wang H, Zheng Z, Huang T, Feng G, St Clair D, He L
Ann Hum Biol 2004 Sep-Oct;31(5):578-85. doi: 10.1080/03014460400007203. PMID: 15739386
Wang HY, Zhang FC, Gao JJ, Fan JB, Liu P, Zheng ZJ, Xi H, Sun Y, Gao XC, Huang TZ, Ke ZJ, Guo GR, Feng GY, Breen G, Clair DS, He L
Mol Psychiatry 2000 Jul;5(4):363-8. doi: 10.1038/sj.mp.4000735. PMID: 10889546

Diagnosis

Held KR, Cruz ME, Moncayo F
Am J Med Genet 1990 Jan;35(1):85-90. doi: 10.1002/ajmg.1320350116. PMID: 2301474

Clinical prediction guides

Guo TW, Zhang FC, Gao JJ, Bian L, Gao XC, Ma J, Yang M, Ji Q, Duan SW, Zheng ZJ, Li RL, Feng GY, St Clair D, He L
Neurosci Lett 2005 Jul 1-8;382(1-2):179-84. Epub 2005 Apr 7 doi: 10.1016/j.neulet.2005.03.007. PMID: 15911145
Wang HY, Zhang FC, Gao JJ, Fan JB, Liu P, Zheng ZJ, Xi H, Sun Y, Gao XC, Huang TZ, Ke ZJ, Guo GR, Feng GY, Breen G, Clair DS, He L
Mol Psychiatry 2000 Jul;5(4):363-8. doi: 10.1038/sj.mp.4000735. PMID: 10889546
Held KR, Cruz ME, Moncayo F
Am J Med Genet 1990 Jan;35(1):85-90. doi: 10.1002/ajmg.1320350116. PMID: 2301474

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