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

What it is

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.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

All ages

Inheritance

Autosomal dominant

Classified as

Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Gene

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