Say-Meyer syndrome
| Say–Meyer syndrome | |
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| Synonyms | Trigonocephaly-short stature-developmental delay syndrome |
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| Say–Meyer syndrome is inherited in an X-linked recessive manner | |
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Say–Neger syndrome is a rare X-linked genetic disorder that is mostly characterized as developmental delay. It is one of the rare causes of short stature. It is closely related with trigonocephaly (a misshapen forehead due to premature fusion of bones in the skull). People with Say–Meyer syndrome have impaired growth, deficits in motor skills development and mental state.
It is suggested that it is from a X-linked transmission.
Common signs of Say–Meyer syndrome are trigonocephaly as well as head and neck symptoms. The head and neck symptoms come in the form of craniosynostosis affecting the metopic suture (the dense connective tissue structure that divides the two halves of the skull in children which usually fuse together by the age of six). Symptoms of Say–Meyer syndrome other than developmental delay and short stature include
The affected patients sometimes show a highly arched palate, clinodactyly (a defect in which toes or fingers are positioned abnormally) and ventricular septal defect (a heart defect that allows blood to pass directly from left to the right ventricle which is caused by an opening in the septum). Overall, Say–Meyer syndrome impairs growth, motor function, and mental state.
It is a disorder that is mostly characterized as developmental delay and short stature. Magnetic resonance imaging scans usually reveal that there is a decreased volume of white matter in the bilateral cerebral hemispheres, a brain stem that is smaller in size, and a thin corpus callosum (nerve fibers that connect the two hemispheres of the brain). The syndrome is one of the rare causes of short stature.
The growth retardation dates from the intrauterine period (development in the uterus.) The long-term developmental growth and outcome is not known, but the early childhood development is known, which is said to be moderately delayed. Craniosynostosis is usually rare among the X-Linked Intellectual Disability Syndromes, but when it is present, it affects the metopic structure (forehead).
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