Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha

Definisjon

A 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.