- A dictionary of medical eponyms

Ter Haar syndrome

Alternative eponyms

  • Frank-Ter Haar syndrome
  • Ter Haar-Hamel-Hendricks syndrome
  • Ter Haar-Hendricks syndrome

Related people

A syndrome of bone dysplasia, craniofacial abnormalities, congenital glaucoma, hypertelorism, congenital heart defect, kyphoscoliosis, skeletal dysplasia, and developmental delay.

Description

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.

Bibliography

  • 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.

What is an eponym?

An eponym is a word derived from the name of a person, whether real or fictional. A medical eponym is thus any word related to medicine, whose name is derived from a person.

What is Whonamedit?

Whonamedit.com is a biographical dictionary of medical eponyms. It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person.

Disclaimer:

Whonamedit? does not give medical advice.
This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.