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🔗 CustomizeMedical Overview of Resistance To Thyroid Hormone Due To A Mutation In Thyroid Hormone Receptor Alpha
Sources citedA rare thyroid hormone signaling disorder characterized by a reduced T4/T3 ratio and normal levels of thyroid-stimulating hormone. The clinical phenotype variably includes neurodevelopmental delay (motor and cognitive), chronic constipation, anemia, disproportionate short stature and delayed bone age, skin tags, decreased metabolic rate, mild bradycardia, delayed teeth eruption and skeletal abnormalities. Dysmorphic craniofacial features, such as macrocephaly, coarse facies, flattened nasal bridge, macroglossia, and thick lips can be present. Disease manifestations may vary from very mild to severe.
Classification & codes: GARD 0022275 · Orphanet ORPHA:566231 · OMIM 614450 · ICD-10 E03.8
Sources: GARD (NIH/NCATS), Orphanet · last reviewed 2026. Educational only — not medical advice.
News & Updates
ALYFTREK shows positive Phase 3 results in children ages 2–5
Vertex plans global regulatory submissions for this pediatric age group in the first half of 2026.
Airway clearance routines that actually work for teens
3 open trials match this profile
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Resistance To Thyroid Hormone Due To A Mutation In Thyroid Hormone Receptor Alpha News & Developments
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Preferences only — saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.
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Disclosure, accommodations, insurance transitions and workplace planning for teens and young adults with Resistance To Thyroid Hormone Due To A Mutation In Thyroid Hormone Receptor Alpha.
Sources: GARD (NIH/NCATS), Orphanet · last reviewed 2026. Educational only — not medical advice.