Bamforth-Lazarus syndrome

Orpha code: 1226OMIM code: 241850

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
Athyroidal hypothyroidism-spiky hair-cleft palate syndrome
Niedoczynność przytarczyc - rozszczep podniebienia
Zespół Bamfortha i Lazarusa
Bamforth syndrome
Hypothyroidism-cleft palate syndrome
ORPHA code
1226
OMIM code
241850
ICD10 code
E03.1
ICD11 code
5A00.0Y

No additional description.

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