Taybi's syndrome

Related people

A malformation syndrome with the characteristic features of small trunk, prominent forehead and unusual facial traits, and mental retardation.

Description

A malformation syndrome with the characteristic features of small trunk, prominent forehead and supraorbital ridges, broad depressed nasal bridge, hypertelorism, small jaw, nose and mouth, partial anodontia, cleft soft palate, and impaired hearing. Also short broad phalanges of thumbs and toes, and short nails. Women usually less severely affected than men. Cleft palate, deafness, short stature, and mental retardation occur only in males. The inheritance pattern is X-linked recessive or semidominant.

Bibliography

  • H. Taybi:
    Generalized skeletal dysplasia with multiple anomalies. A note on Pyle’s disease.
    The American Journal of Roentgenology, Radium Therapy and Nuclear Medicine, 1962, 88: 450-457.

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.