Synonyms Andre syndrome, CRANIOORODIGITAL SYNDROME, Cranio-oro-digital syndrome + [32] |
Introduction A severe form of otopalatodigital syndrome spectrum disorder with characteristics of dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system and intestine) and poor survival. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation are less severely affected. |
Target |
Mechanism DNA inhibitors |
Active Org. |
Originator Org. |
Active Indication |
Inactive Indication- |
Drug Highest PhasePhase 1/2 |
First Approval Ctry. / Loc.- |
First Approval Date20 Jan 1800 |
Start Date25 Apr 2023 |
Sponsor / Collaborator ![]() [+3] |
Start Date27 Nov 2017 |
Sponsor / Collaborator |