Frank-ter Haar syndrome

Definition:

Frank Ter Haar syndrome (FTHS) is a rare skeletal dysplasia with classical features like megalocornea, finger flexion deformities, prominent coccyx and heart defects. The main characteristics are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, small chin, bowing of the long bones, and flexion deformity of the fingers. The most common underlying genetic defect in FTHS appears to be a mutation in the SH3PXD2B gene. Patients appeared to share many of the craniofacial and skeletal features normally associated with Melnick-Needles syndrome. However the autosomal recessive pattern of inheritance and congenital cardiac defects distinguished the syndrome as a separate entity.

References:

[1]. Charlotte L Bendon, et al. Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure. BMC Med Genet. 2012 Nov 9;13:104. [Content Brief]

[2]. P Femitha, et al. Frank-Ter Haar syndrome in a newborn. Indian J Pediatr. 2012 Aug;79(8):1091-3. [Content Brief]

[3]. Saskia M Maas, et al. Further delineation of Frank-ter Haar syndrome. Am J Med Genet A. 2004 Dec 1;131(2):127-33. [Content Brief]

[4]. Zafar Iqbal, et al. Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome. Am J Hum Genet. 2010 Feb 12;86(2):254-61. [Content Brief]

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