Conditions / Endocrine
Bamforth-Lazarus syndrome
info · Endocrine
A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22.
Signs and symptoms
- Cleft palate
- Decreased circulating T4 concentration
- Delayed skeletal maturation
- Feeding difficulties
- Decreased circulating thyroglobulin concentration
- Excessive daytime somnolence
- Hypertelorism
- Elevated circulating thyroid-stimulating hormone concentration
- Hypothyroidism
- Congenital hypothyroidism
Also known as: HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE