Frank-Ter Haar syndrome

Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*

Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012

Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow

Frank ter Haar syndrome presents similar although milder skeletal features, but also shows macrocornea and glaucoma. Serpentine fibula-polycystic kidney disease also presents with cystic kidney disease, elongated and curved fibulae and does not show metaphyseal anomalies, bowing of the tibiae, and cortical irregularities. Shprintzen-Goldberg syndrome (p. 568); affected male fetuses of women with osteopathia striata with cranial sclerosis (p. 329).

Retinal detachment in a child with Frank-ter Haar syndrome

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Journal Information

Published in Ophthalmic Genetics, 2023

Onur Furundaoturan, Mine Esen Baris, Durdugul Ayyıldız Emecen, Elif Demirkilinc Biler

Frank-ter Haar syndrome (FTHS) is an extremely rare autosomal recessive disorder, caused by defective collagen remodeling resulting from pathogenic variants in SH3PXD2B, a gene related to extracellular matrix remodeling and cellular migration. The syndrome is associated with craniofacial, skeletal, cardiac, and ocular abnormalities. Congenital glaucoma and megalocornea, ocular hypertension, as well as iris, retina, or choroid colobomas are the various related ocular findings that have been reported in the literature (1,2).

Frank-Ter Haar syndrome

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Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*

Retinal detachment in a child with Frank-ter Haar syndrome