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Start free with EleplanCongenital hypothyroidism due to maternal intake of antithyroid drugs
ORPHA:226313Disease
What it is
A rare congenital hypothyroidism disorder characterized by transient, primary, fetal or neonatal hypothyroidism resulting from transplacental transfer of antithyroid drugs due to maternal intake. Patients may present fetal or neonatal goiter, hoarse cry, reduced tendon reflexes, feeding difficulty, constipation, prolonged jaundice and/or respiratory distress. Elevated levels of T4 and thyroid stimulating hormone usually normalize without treatment within 3 weeks of birth.
Key facts
- Age of onset
- Infancy, Neonatal
- Classified as
- Disease
Signs and symptoms
Very common80–99%
5Common30–79%
17- Abnormality of epiphysis morphology
- Absent ossification of capital femoral epiphysis
- Constipation
- Delayed epiphyseal ossification
- Depressed nasal bridge
- Feeding difficulties in infancy
- Hypersomnia
- Hyporeflexia
- Hypothermia
- Large for gestational age
- Macroglossia
- Moon facies
- Mottled pigmentation
- Neonatal hypotonia
- Prolonged neonatal jaundice
- Protuberant abdomen
- Umbilical hernia
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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