Ter Haar syndrome

A syndrome of bone dysplasia, craniofacial abnormalities, congenital glaucoma, hypertelorism, congenital heart defect, kyphoscoliosis, skeletal dysplasia, and developmental delay. Originally considered a form of the Melnick-Needles syndrome, ter Haar syndrome is now recognized a separate entity which, in addition to the Melnick-Needles phenotype, includes congenital heart defect and glaucoma.

The combination of the symptoms megalocornea, multiple skeletal anomalies, and developmental delay was first recognized as a separate entity by Frank et al. and subsequently confirmed by ter Haar et al. Frank et al. described an 18-month-old Bedouin girl, born to consanguineous parents, with megalocornea, multiple skeletal anomalies, and developmental delay, and suggested that this combination of anomalies was a hitherto unreported entity. Ter Haar et al. described 3 cases in which the bone changes and facial features were thought consistent with the diagnosis of Melnick-Needles syndrome.

Jan Hendriks and Ben Hamel will be entered when we have some biographical information.

• Y. Frank, M. Ziprkowski, A. Romano, R. Stein, M. B. Katznelson, B. Cohen, R. M. Goodman:
  Megalocornea associated with multiple skeletal anomalies: a new genetic syndrome?
  Journal de génétique humaine, Genève, 1973, 21: 67-72.
• B. ter Haar, Ben Hamel, Jan Hendriks, Jan de Jager:
  Melnick-Needles syndrome: indication for an autosomal recessive form.
  American Journal of Medical Genetics, New York, December 1982, 13: 469-477.
• B. C. J. Hamel, J. M. T. Draaisma, A. J. L. G. Pinkers, C. Boetes, R. L. E. Hoppe, H.-H- Ropers, H. G. Brunner:
  Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and a reappraisal of an earlier report.
  American Journal of Medical Genetics, April 10, 1995, 56: 312-316.
• R. Wallerstein, C. I. Scott Jr, L. Nicholson:
  Extended survival in a new case of ter Haar syndrome: Further delineation of the syndrome.
  American Journal of Medical Genetics, 1997, 70: 267-272.
• S. M. Maas, H. Kayserili, J. Lam, M. Y. Apak, R. C. Hennekam:
  Further delineation of Frank-ter Haar syndrome.
  American Journal of Medical Genetics , December 1, 2004, 131 (2): 127-233.