This is a severe, generalized hereditary syndrome recently described mostly in patients of Arab ancestry. Samia Temtamy, an Egyptian geneticist described this condition in 1991 and only a small number of individuals has been reported.
Most of the features are present at birth. The face appears elongated, the ears are low-set, the lower jaw appears shortened, and the upper lip may appear shortened as well. There is generalized developmental delay and most individuals are unable to speak. They are usually somewhat short in stature and there are often cardiac defects present. The brain is not fully developed as evident in certain structures visualized on MRI imaging. Seizures begin soon after birth and are difficult to control. There may be unsteadiness of gait and some individuals have ‘stiff’ or spastic muscles in the arms and legs. The eyes often have structural defects known as colobomas in which the colored part of the eye (iris) has a ‘keyhole’ appearance replacing the usual round pupil. This developmental defect may extend inside the eye and if it involves the optic nerve vision is impaired. In fact, vision is defective in the majority of individuals and in many worsens throughout life.
An autosomal recessive mutation seems to be responsible for Temtamy syndrome. Both parents are clinically normal but carry a single copy of the mutations and when both transmit the defect to a child, it will have this syndrome. The risk to each child born to such couples is 25%.
The diagnosis can be suspected at birth by the combination of deformities that might be evident to a pediatrician. Ophthalmologists, clinical geneticists, neurologists, and cardiologists should help in the evaluation. Nothing is known about longevity but many individuals live to adulthood. Daily living challenges are many and require supervision. No treatment for the syndrome is available but attempts should be made to control the seizures.
It is important to recognize that this condition likely consists of several conditions in which there is a wide variation in the clinical picture. For example, the amount of intellectual deficit varies among individuals and near normal cognitive function can be present. Individual evaluations are recommended with special education and adaptive learning programs applied when appropriate.