Bamforth-Lazarus syndrome
What is Bamforth-Lazarus syndrome?
A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.
Other condition names
- Athyroidal hypothyroidism-spiky hair-cleft palate syndrome
- Bamforth syndrome
- Hypothyroidism-cleft palate syndrome
Inheritance type
Autosomal recessive
Prevalence
- Worldwide: <1 in 1,000 000
Age of Onset
- Antenatal
- Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.