Genetic Disorders

Gricelli Syndrome – Overview Gricelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms. Griscelli syndrome type 1 involves severe …

Description – Acoustic Neuroma Acoustic Neuroma is also known as vestibular schwannoma. An acoustic neuroma is a benign tumor that develops when the specialized (Schwann) cells surrounding the vestibular division of the auditory nerve, grow at an abnormal rate in the internal auditory canal. The tumor if left untreated, can …

Batten Disease – Definition Batten disease is the name for a group of inherited nervous system disorders that most often begin in childhood and interfere with a cell’s ability to recycle a cellular residue called lipofuscin. Batten is commonly being used to describe the many forms of the disease, called …

Overview – Ehlers Danlos Syndrome Ehlers Danlos syndrome (EDS) is a disease that weakens the connective tissues of your body. These are things like tendons and ligaments that hold parts of your body together. EDS can make your joints loose and your skin thin and easily bruised. It also can …

Cystic Hygroma – Description A cystic hygroma is a fluid-filled sac that results from a blockage in the lymphatic system. They are also known as Lymphatic Malformation (LM). It is most commonly located in the neck or head area but can be located anywhere in the body. It may be …

Definition Costello Syndrome is a rare condition that affects many different parts of the body. Signs and symptoms generally include developmental delay, intellectual disability, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints Affected people may also have heart abnormalities such …

Definition Cardiofaciocutaneous Syndrome is a rare genetic condition that typically affects the heart (cardio-), facial features (facio-) and skin (cutaneous). It is seen with equal frequency in males and females and across all ethnic groups. Children with CFC syndrome may have certain features that suggest the diagnosis, such as relatively …

Description Spinal muscular atrophy (SMA) is a group of inherited disorders characterized by a loss of certain nerve cells in the spinal cord called motor neurons or anterior horn cells. Motor neurons receive the nerve impulses transmitted from the brain to the spinal cord (brainstem) and, in turn, transmit the …