Each person with Down syndrome is an individual — intellectual and developmental problems may be mild, moderate or severe. Some people are healthy while others have significant health problems such as serious heart defects. Children and adults with Down syndrome have distinct facial features. Though not all people with Down syndrome have the same features, some of the more common features include: Flattened face  Read More

The spinal muscular atrophies (SMAs), are characterized by degeneration of nerve cells (motor nuclei) within the lowest region of the brain (lower brainstem) and certain motor neurons in the spinal cord (anterior horn cells) leading to muscle weakness of the truncal, and extremity muscles initially, followed by chewing, swallowing and breathing difficulties. Motor neurons are nerve cells that transmit nerve impulses from the spinal cord or bra  Read More

The spinal muscular atrophies (SMAs), are characterized by degeneration of nerve cells (motor nuclei) within the lowest region of the brain (lower brainstem) and certain motor neurons in the spinal cord (anterior horn cells) leading to muscle weakness of the truncal, and extremity muscles initially, followed by chewing, swallowing and breathing difficulties. Motor neurons are nerve cells that transmit nerve impulses from the spinal cord or bra  Read More

Monosomy 18p syndrome, a rare chromosomal abnormality, is characterized by the deletion of all or a portion of chromosome 18's short arm (p) (monosomic). Short stature, varying degrees of mental impairment, speech delays, deformities of the skull and facial (craniofacial) area, or/and other physical anomalies are typical characteristics of the condition. Risk factors for the monosomy 18p syndrome 1. M  Read More

Prader-Willi Syndrome is a result of the deletion of a portion of chromosome number 15, or genes on it are missing altogether. It is solely inherited from the father. It shows in physical characteristics such as behavioral problems, intellectual disabilities, sleep disorders, speech issues and, shortened stature and hormonal signs like late puberty, and constant sensation of hunger that eventually grows into obesity. Abnormal  Read More