Belgian Genetic Tests database
Bamforth-Lazarus syndrome
| Name: |
Bamforth-Lazarus syndrome
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| Description: |
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.
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| ORPHAcode: |
1226
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| Synonyms: |
Athyroidal hypothyroidism-spiky hair-cleft palate syndrome
Bamforth syndrome
Hypothyroidism-cleft palate syndrome
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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