[MIM 614 657]

Unknown prevalence : very few cases have been described. Recently described association of orofacial cleft, cardiac malformation, tall stature, ear anomalies, gastrointestinal problems and mutations of the AMOTL1 gene (11q21), coding for a membrane protein that forms part of tight junctions and plays a role in paracellular permeability and cell polarity. It may also be involved in organogenesis and have an antitumoral role. This protein is close to angiomotin 1, which regulates endothelial cell migration and capillary formation.

Clinical presentation :

-        cleft lip and palate

-        facial dysmorphism

-        cardiac malformation

-        central nervous system anomalies: arachnoid cyst, thetered spinal cord

-        anal imperforation

-        one case of diaphragmatic hernia

Anesthetic implications: 

according to the associated malformations

References : 

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Updated: July 2023