Frank-ter Haar syndrome

Frank-ter Haar syndrome is a syndrome that includes brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers. Protruding simple ears and prominent coccyx bone, micrognathia, and unilateral clubfoot.No molecular diagnoses has been developed yet.Recessive inheritance, congenital glaucoma, and congenital heart disease distinguish ter Haar syndrome as a unique entity. Maas et al. (2004) suggested that this disorder be referred to as Frank-ter Haar syndrome because of the initial description by Frank et al. (1973).

References

[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=249420 NCBI article]