[MIM 249 420]

Very rare. Autosomal recessive transmission of a mutation of SH3PXD2B gene (5q35.1). Melnick-Needles syndrome is very close and could be the autosomal dominant form. 

Association of:

-         brachycephaly with large fontanelles, broad forehead and sclerosis of the bones of the base of the skull

-         hypertelorism with protruding eyes: frequent associated congenital macrocornea or glaucoma 

-         congenital heart disease

-         micrognathia, chubby cheeks, protruding ears 

-         bone anomalies: deformation in flexion of the fingers, clubfoot, thoracolumbar scoliosis 

-         prominent coccyx

-         development and mental retardation

Frequent death in childhood.

Anesthetic implications: 

glaucoma, heart defect, difficult intubation.

References:

-        Tommasino C, Albicini M.
Anaesthesia and orphan diseases: difficult tracheal intubation in a child with Frank-ter Haar syndrome.
Eur J Anaesthesiol 2018; 35 : 542-4

dated: July 2018