raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:1910

Fetal iodine syndrome

Type
Malformation syndrome
Group
Disorder
Inheritance
Not applicable
Age of onset
Antenatal, Neonatal
Status
active

Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH).

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enFetal iodine syndrome
frHypothyroïdie congénitale par insuffisance/excès d'apport en iode
deJodmangelsyndrom, fetalesKongenitale Hypothyreose durch Jodmangel/Jodüberschuss
esSíndrome por exposición fetal a la iodina
itFetopatia da iodio
nlFoetaal jodiumsyndroom
ptSíndrome iodo fetal
plPłodowy zespół jodowy
csFetální jodový syndrom
ukФетальний йодний синдром
zh胎儿碘综合征
trFetal iyot sendromu

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM228355Evalidated
ICD-10P72.2NTBTattributedvalidated
ICD-115A00.03NTBTindexvalidated
MONDO0009224Evalidated
UMLSC4273860Evalidated
GARD2304Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (3):

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

1 record
TypeClassValueAreaQualificationValidationSource
Point prevalenceUnknown—WorldwideClass onlyNot yet validatedORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

7 annotations · validated 2016-06-01
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0004374Hemiplegia/hemiparesis
HP:0001249Intellectual disability
HP:0000407Sensorineural hearing impairment
HP:0001264Spastic diplegia
Frequent (79-30%)
HP:0000821Hypothyroidism
Occasional (29-5%)
HP:0000639Nystagmus
HP:0000486Strabismus

Run the differential on the 4 obligate / very frequent terms

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Sources for this card