Angelman's Syndrome
A neurogenic disorder first described by British physician Harry Angelman in 1965. There are currently about 1,000 cases in the United States. Angelman's Syndrome is the result of missing genetic information on the maternal side of the 15th chromosome. Classic characteristics of the disorder include: a jerky gait or walk, severe developmental delays, short attention span, absence of speech, protruding tongue, wide mouths, widely spaced teeth, drooling, seizures, sleep disturbances, and an extremely happy personality accompanied by excessive laughing and smiling.

Anencephaly
A fatal birth defect that happens when the neural tube does not fully close at the top. As a result, the skull and brain do not form properly. Babies with anencephaly die before or shortly after birth.

Autism
A developmental disorder of brain function. People with classical autism show three types of symptoms: impaired social interaction, problems with verbal and nonverbal communication and imagination and unusual or severely limited activities and interests.

Cerebral Palsy
A life-long condition caused by damage to the brain during pregnancy, labor or shortly following birth. "Cerebral" refers to the brain, and "palsy" to muscle weakness or poor control of movement or posture. It is not a disease; and it is neither progressive nor communicable. There is no single cause of cerebral palsy. It is characterized by the inability to control motor functions and can result in involuntary movement, disturbance in gait and mobility and impairment of sight, hearing and speech.

Cleft Lip and Palate
A cleft lip and/or palate is a birth defect (congenital) of the upper part of the mouth. A cleft lip creates an opening in the upper lip between the mouth and nose and a cleft palate occurs when the roof of the mouth has not joined completely.

Clubfoot
A birth defect, clubfoot affects the foot and ankle areas, where the heel and toes can be turned inward. Instances of clubfoot have been medically documented for decades, and approximately 66% of all instances occur in boys. Serial casting, a method whereby the bones of the affected areas are slowly stretched to their normal positions, puts the bones of the foot in normal alignment. Sometimes the condition can affect the development of the calf muscles, often leaving one muscle smaller than the other.

Asperger's Syndrome (AS)
A developmental disorder that effects a persons ability to understand other people and socially interact with them. People with AS, while having trouble making eye contact, are unable to read and respond to social cues and body language. Persons with AS tend to repeat certain phrases or words repeatedly. Symptoms of the syndrome can include: clumsiness or lack of coordination, extreme self-absorption, limited interests, unusual preoccupations, ritual or repetitive routines, speech and language peculiarities and non-verbal communication difficulties. AS is a Spectrum Disorder which means that symptoms range greatly.

Congenital Birth Defects 
Congenital means "present from birth." These defects can occur for many reasons including inherited (genetic) conditions, toxic exposure of the fetus (for example, to alcohol), birth injury and, in many cases, for unknown reasons. About 60% of all birth defects are from unknown causes.

Di George Syndrome
A rare but often complex genetic abnormality caused by a deletion of chromosome 22 with prevalence estimated at 1:4000 live births. The most common presentation in the neonatal period begins with the diagnoses of a cardiac defect. Clinical features include congenital heart defects, facial anomalies, and hypoplastic thymus with immune deficiencies palatal anomalies and neonatal hypocalcaemia.Late presentations of Di George Syndrome can occur in children between the ages of 3-6 who show developmental delays, moderate to severe behavioral problems and recurrent airway infection.

Down Syndrome
A genetic condition caused by extra genetic material (genes) from the 21st chromosome.  The extra genes cause certain characteristics that we know as Down Syndrome.  Individuals with Down Syndrome also have all the other genes given to them by their parents.  As a result, they have a combination of features typical of Down Syndrome on top of the individual features from their parents.  This can include some degree of mental retardation, cognitive disability and other developmental delays.

Encephalocele
A birth defect that is often fatal. Part of a baby's skull does not form properly, and part of the brain is outside of the skull. Those babies who do survive often have severe physical and mental handicaps.

Fetal Alcohol Syndrome (FAS)
Alcohol is a recognized human teratogen that can produce Fetal Alcohol Syndrome (FAS) and a variety of alcohol-related effects. Fetal Alcohol Spectrum Disorders (FASD) is an umbrella term describing the range of effects that can occur in an individual whose mother drank alcohol during pregnancy. These effects may include physical, mental, behavioral, and/or learning disabilities with possible lifelong implications.

Fragile X Syndrome
After Down's Syndrome, the second most frequent genetic cause of mental retardation, growth deficiencies, central nervous dysfunction, cranio-facial abnormalities and behavioral maladjustments.

Hemangioma
A hemangioma is a type of birthmark. It is the most common benign (non-cancerous) tumor of the skin. Hemangiomas may be present at birth (faint red mark) or may appear in the first months after birth. A hemangioma is also known as a port wine stain, strawberry hemangioma, and salmon patch. About 87 percent of hemangiomas occur in the head or neck area. Hemangiomas occur five times more often in females than in males.

Lowe Syndrome
An hereditary condition that affects only males. It is caused by a single defective gene on the X-chromosome. Because of this defective gene, an essential enzyme is not produced which consequently causes physical and mental disabilities, and medical problems.

Neural tube defect (NTD)
Problems in the growth of the spinal cord and brain in an embryo, when the neural tube doesn't close at the top (anencephaly) or the bottom (spina bifida). The defects occur in the first month of pregnancy, before most women know they are pregnant. About seven babies are born in the U.S. each day with these birth defects.

Prader-Willi Syndrome (PWS)
A genetic birth defect that occurs at the time or near the time a baby is conceived. PWS cannot be cured, out grown or prevented. Both males and females of all races can be born with PWS. Common symptoms of the syndrome include: low muscle tone, shortness of stature, behavioral problems, cognitive disabilities, incomplete sexual maturity and a relentless appetite. Most people with PWS are mild-mannered and easy going, however when they do become upset it is hard for them to settle down. Individuals with PWS also are prone to obsessive/compulsive behavior that is not just related to food. Such obsessive/compulsive behaviors can include: the collecting and hoarding of possessions, the strong need for a routine, repetitive thoughts and verbalizations and picking at skin irritations.

Smith-Magenis Syndrome (SMS)
A rare condition that is associated with developmental delay, learning difficulties, behavioral problems and a disturbed sleeping pattern. Ann Smith and colleagues first described this condition in 1982. About 1 in 25,000 children are born with this condition and it is probably under-diagnosed. It is caused by a small deletion (microdeletion) of the short arm of one member of the 17th pair of chromosomes (17p11.2 microdeletion). Most children with SMS have developmental delay and moderate to severe learning difficulties. Speech is frequently delayed. The most characteristic features of this syndrome are the behavioral problems. These include several forms of self-injurious behavior such as pulling out fingernails and toenails, wrist biting, hair pulling, skin picking and head banging. There is also a tendency to insert objects into bodily orifices such as the nose and ears. Some affected patients also demonstrate 'self-hugging' and 'lick and flip' (licking their fingers and rapidly flicking the pages of a book) behaviors. Other behavioral problems include aggression, frequent temper tantrums, short attention span and repetitive behavior. Patients with SMS also have a very disturbed sleeping pattern. They appear to require very little sleep and may have an inverted sleep rhythm, staying awake at night and often sleeping during the daytime.

Facial features of SMS are fairly distinctive and include heavy brows, up-slanting eyes, depressed nasal bridge, and a wide mouth with fleshy and averted central portion of the upper lip. Other features include relatively hoarse voice, short fingers, eye problems such as squint and iris abnormalities, hearing loss, deafness, and a spinal curvature called scoliosis. Congenital heart disease and kidney abnormalities are also frequently seen. A high index of suspicion is needed to make this diagnosis. The characteristic behavior and sleep disturbance coupled with the distinctive facial features often suggest the diagnosis, which can be confirmed by a special diagnostic test called Fluorescent in situ hybridisation (FISH) analysis.

Spina bifida
A birth defect of the backbone and spinal cord that leaves the spinal cord exposed. A person with spina bifida may have learning disabilities or problems going to the bathroom because of lack of bowel and bladder control, and usually needs crutches or a wheelchair to get around. Eighty to ninety percent of babies with spina bifida survive, and most lead productive lives.

Vascular Malformations
A vascular malformation is another type of birthmark, or congenital (present at birth) growth, made up of arteries, veins, capillaries, or lymphatic vessels. There are several different types of malformations and they are named according to which type of blood vessel is predominantly affected. A vascular malformation is also known as lymphangioma, arteriovenous malformations, and vascular gigantism.

Williams Syndrome
Is present at birth and occurs in both males and females in all ethnic groups throughout the world. Persons who have Williams Syndrome are missing genetic material on chromosome #7 which contains the protein elastin which strengthens the heart and its blod vessels. Children with Williams Syndrome often share similar facial features such as: smaller sized heads, puffiness around the eyes, a small upturned nose, curly hair, full lips, small widely spaced teeth, a noticeable white starburst pattern in the iris and a small chin. These physical attributes can cause persons with the disorder to appear "elf-like". Other affects of the disorder include: low or poor muscle tone, premature puberty, hypersensitive hearing and a low birth weight. Mild to severe learning disabilities related to visual, perceptual and spatial concepts are common although people with Williams Syndrome have a high grasp of language skills and are excessively friendly. There is no known cause for Williams Syndrome and no cure.