Hadipour Z, Hadipour F, van Bokhoven H, Hennekam R, Shafeghati Y (2019) Frank-Ter Haar Syndrome, Report of a Case with a Novel Mutation from Iran. Clin Med Rev Case Rep 6:262.


© 2019 Hadipour Z, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

CASE REPORT | OPEN ACCESS DOI: 10.23937/2378-3656/1410262

Frank-Ter Haar Syndrome, Report of a Case with a Novel Mutation from Iran

Z Hadipour1, F Hadipour1, H van Bokhoven2, R Hennekam3 and Y Shafeghati4*

1Medical Genetic Department, Atieh Hospital, Tehran, Iran

2Department of Human Genetics, Radboud University Medical Center, The Netherlands

3Academic Medical Center, University of Amsterdam, The Netherlands

4Sarem Cell Research Center, Sarem Hospital, Tehran, Iran


Frank-ter Haar syndrome is a genetic disease that is transmitted by autosomal recessive pattern with characteristic features such as megalocornea or glaucoma, a developmental delay and multiple congenital anomalies. It was first recognized as a separate entity by Frank, et al. [1] and subsequently confirmed by ter Haar, et al. [2]. The main characteristics are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, megalocornea 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 can be also regarded as important diagnostic signs. Inheritance most likely is autosomal recessive. Several manifestations such as progressive "coarsening" of the face, hirsutism, gallstones, lingual papillomatosis, and cardiac valve anomalies all point to a possible metabolic basis of the disorder. Here we describe an Iranian 6-year-old boy with this syndrome which is confirmed by a homozygous pathogenic mutation in the SH3PXD2B gene.