Clefting

Gene: FGFR3

I don't know

Comment on list classification: Although there are more than three unrelated cases reported with cleft lip and/or palate, this is not consistently found in patients with monoallelic variants in FGFR3 gene. Hence, this gene should be rated amber.

Created: 16 Jun 2023, 3:56 p.m. | Last Modified: 16 Jun 2023, 3:56 p.m.

Panel Version: 4.19

PMID:22565872 included 21 patients with variants in FGFR3 and presenting with Muenke syndrome in this study, of which 16 patients had structural anomaly of the palate. However, only one patient had cleft lip and palate.

PMID:29150894 reported a father and two children with FGFR3 variant and presenting with hypochondroplasia, of which only the daughter had cleft palate.

2 out of 15 patients reported in DECIPHER database with monoallelic sequence variants had cleft palate.
Sources: Literature

Created: 16 Jun 2023, 3:05 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Muenke syndrome, OMIM:602849; Hypochondroplasia, OMIM:146000

Publications

• 22565872
• 29150894
• 37010288