Amazing Parents / Professionals dealing with Amazing Children

This page is all about our Facebook Community and we hope that you will join us. Below you will find a growing list of conditions and disorders that our community deals with every day. As a community we are here for each other and here to listen. We want to hear from you and we want you to listen to us. We all need a shoulder to cry on from time to time. Here is a pretty big one just for you.

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15q13.3 microdeletion
15q13.3 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q13.3. This chromosomal change increases the risk of intellectual disability, seizures, behavioral problems, and psychiatric disorders. However, some people with a 15q13.3 microdeletion do not appear to have any associated features.
About half of all people with a 15q13.3 microdeletion have learning difficulties or intellectual disability, which is usually mild or moderate. Many of these individuals have delayed speech and language skills. 15q13.3 microdeletion also appears to be a major risk factor for recurrent seizures (epilepsy); about one-third of people with this chromosomal change have epilepsy.

1p36 Deletion Syndrome

ADHD has three subtypes:1
Predominantly hyperactive-impulsive
Predominantly inattentive

Combined hyperactive-impulsive and inattentive
Most children have the combined type of ADHD.

Aicardi Syndrome

What is Aicardi Syndrome?
Aicardi syndrome is a rare genetic disorder that primarily affects newborn girls. The condition is sporadic, meaning it is not known to pass from parent to child. (An exception is a report of two sisters and a pair of identical twins, all of whom were affected.) The mutation that causes Aicardi syndrome has not been identified. Scientists believe that the gene associated with the condition is located on the X chromosome because nearly all affected individuals are female and the only reports of boys having Aicardi syndrome are in boys born with an extra “X” chromosome. (Females have two X chromosomes, while males normally have an X and a Y chromosome.) Girls with Aicardi syndrome often develop seizures prior to three months and most before one year of age.

Originally, Aicardi syndrome was characterized by three main features: 1) partial or complete absence of the structure (corpus callosum) that links the two halves of the brain (2) complex seizures, generally starting as infantile spasms, and 3) retinal lacunae, lesions on the retina that look like yellowish spots. However, Aicardi syndrome is now known to have a much broader spectrum of abnormalities than was initially described. Not all girls with the condition have the three features described above and many girls have additional features.

Typical findings in the brain of girls with Aicardi syndrome include heterotopias, which are groups of brain cells that, during development, migrated to the wrong area of brain; polymicrogyria or pachygyria, which are numerous small, or too few, brain folds; and cysts, (fluid filled cavities) in the brain. Girls with Aicardi syndrome have varying degrees of mental retardation and developmental delay. Many girls also have developmental abnormalities of their optic nerves and some have microphthalmia (small eyes). Skeletal problems such as absent or abnormal ribs and abnormalities of vertebrae in the spinal column (including hemivertebrae and butterfly vertebrae) have also been reported. Some girls also have skin problems, facial asymmetry, or other characteristic facial features.

Angelman Syndrome
Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include developmental delay, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood.
Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Hyperactivity and a short attention span are common. Most affected children also have difficulty sleeping and need less sleep than usual. Some affected individuals have unusually fair skin and light-colored hair.
With age, people with Angelman syndrome become less excitable, and the sleeping problems tend to improve. However, affected individuals continue to have intellectual disability, severe speech impairment, and seizures throughout their lives. Adults with Angelman syndrome have distinctive facial features that are described as “coarse.” Some also develop an abnormal side-to-side curvature of the spine (scoliosis). The life expectancy of people with this condition appears to be nearly normal.

Congenital insensitivity to pain with anhidrosis (CIPA) has two characteristic features: the inability to feel pain and temperature, and decreased or absent sweating (anhidrosis). This condition is also known as hereditary sensory and autonomic neuropathy type IV. The signs and symptoms of CIPA appear early, usually at birth or during infancy, but with careful medical attention, affected individuals can live into adulthood.
An inability to feel pain and temperature often leads to repeated severe injuries. Unintentional self-injury is common in people with CIPA, typically by biting the tongue, lips, or fingers, which may lead to spontaneous amputation of the affected area. In addition, people with CIPA heal slowly from skin and bone injuries. Repeated trauma can lead to chronic bone infections (osteomyelitis) or a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed.
Normally, sweating helps cool the body temperature. However, in people with CIPA, anhidrosis often causes recurrent, extremely high fevers (hyperpyrexia) and seizures brought on by high temperature (febrile seizures).
In addition to the characteristic features, there are other signs and symptoms of CIPA. Many affected individuals have thick, leathery skin (lichenification) on the palms of their hands or misshapen fingernails or toenails. They can also have patches on their scalp where hair does not grow (hypotrichosis). About half of people with CIPA show signs of hyperactivity or emotional instability, and many affected individuals have intellectual disability. Some people with CIPA have weak muscle tone (hypotonia) when they are young, but muscle strength and tone become more normal as they get older.



Arnold Chiari Malformation

Aspergers Syndrome
Asperger syndrome is a disorder on the autism spectrum, which is a group of conditions characterized by impaired communication and social interaction. Asperger syndrome is on the mild, or “high-functioning,” end of the autism spectrum. Many affected individuals learn to compensate for their differences and live independent and successful lives. However, the behavioral challenges associated with this condition often lead to social isolation and difficulties at school, at work, and in personal relationships.

Asthma is a disease that affects your lungs. It is one of the most common long-term diseases of children, but adults have asthma, too. Asthma causes repeated episodes of wheezing, breathlessness, chest tightness, and nighttime or early morning coughing. If you have asthma, you have it all the time, but you will have asthma attacks only when something bothers your lungs.

In most cases, we don’t know what causes asthma, and we don’t know how to cure it. We know that if someone in your family has asthma, you are also more likely to have it.

You can control your asthma by knowing the warning signs of an attack, staying away from things that trigger an attack, and following the advice of your doctor or other medical professional. When you control your asthma:

Ataxia neuropathy spectrum is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Ataxia neuropathy spectrum now includes the conditions previously called mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO).
As the name implies, people with ataxia neuropathy spectrum typically have problems with coordination and balance (ataxia) and disturbances in nerve function (neuropathy). The neuropathy can be classified as sensory, motor, or a combination of the two (mixed). Sensory neuropathy causes numbness, tingling, or pain in the arms and legs, and motor neuropathy refers to disturbance in the nerves used for muscle movement.
Most people with ataxia neuropathy spectrum also have severe brain dysfunction (encephalopathy) and seizures. Some affected individuals have weakness of the external muscles of the eye (ophthalmoplegia), which leads to drooping eyelids (ptosis). Other signs and symptoms can include involuntary muscle twitches (myoclonus), liver disease, depression, migraine headaches, or blindness.

Auditory processing disorder




Bipolar Disorder


Vision impairment, or low vision, means that even with eyeglasses, contact lenses, medicine or surgery, you don’t see well. Vision impairment can range from mild to severe. Worldwide, between 300 million and 400 million people are visually impaired due to various causes. Of this group, approximately 50 million people are totally blind. Approximately 80% of blindness occurs in people over 50 years old

Celiac Disease

Cerebral Palsy

Chronic intestinal pseudo obstruction
Intestinal pseudo-obstruction is a rare condition with symptoms like those caused by a bowel obstruction, or blockage. But when the intestines are examined, no blockage is found. Instead, the symptoms are due to nerve or muscle problems that affect the movement of food, fluid, and air through the intestines.
In another form of intestinal pseudo-obstruction that mostly affects older adults, the colon becomes enlarged after surgery or illness. This condition is known as acute colonic pseudo-obstruction (ACPO), also called Ogilvie syndrome or acute colonic ileus. ACPO can lead to serious complications and can be life-threatening.

Cleft Lip & Palate

A cleft lip and palate can:

Affect the appearance of the face
Lead to problems with feeding and speech
Lead to ear infections

Coffin–Lowry syndrome

Collagen disease


In a class of diseases known as autoimmune disorders, the body’s immune system attacks its own tissues. Some of these diseases have similarities, including arthritis and inflammation of arteries in the tissues that connect joints and other tissues. These diseases are known as collagen vascular diseases.

Congenital Anomaly
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, more commonly known by the acronym CHILD syndrome, is a condition that affects the development of several parts of the body. The signs and symptoms of this disorder are typically limited to either the right side or the left side of the body. (“Hemi-” means “half,” and “dysplasia” refers to abnormal growth.) The right side is affected about twice as often as the left side.
People with CHILD syndrome have a skin condition characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis). This condition is most likely to occur in skin folds and creases and usually does not affect the face. The skin abnormalities are present at birth and persist throughout life.
CHILD syndrome also disrupts the formation of the arms and legs during early development. Children with this disorder may be born with one or more limbs that are shortened or missing. The limb abnormalities occur on the same side of the body as the skin abnormalities.
Additionally, CHILD syndrome may affect the development of the brain, heart, lungs, and kidneys.

Congenital Cataracts
Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) is a rare disorder that affects several parts of the body. It is characterized by a clouding of the lens of the eyes at birth (congenital cataracts) and other eye abnormalities, such as small or poorly developed eyes (microphthalmia) and abnormal eye movements (nystagmus). Affected individuals, particularly males, often have distinctive facial features that become more apparent as they reach adulthood. These features include a prominent midface, a large nose, protruding teeth, and a small lower jaw.
CCFDN causes progressive damage to the peripheral nerves, which connect the brain and spinal cord to muscles and sensory cells. This nerve damage is known as peripheral neuropathy. Weakness in the legs, followed by the arms, begins in the first few years of life, and as a result children with CCFDN have delayed development of motor skills such as standing and walking. In adolescence, affected individuals develop sensory abnormalities such as numbness and tingling, mainly in the legs. By adulthood they typically have significant difficulties with mobility. Muscle weakness can also lead to skeletal abnormalities such as hand and foot deformities and abnormal curvature of the spine.
People with CCFDN may have problems with balance and coordination (ataxia), tremors, and difficulty with movements that involve judging distance or scale (dysmetria). Some have mild intellectual disability. Individuals with CCFDN have short stature, are typically underweight, and have reduced bone density.
A complication called rhabdomyolysis occurs in some people with CCFDN, typically following a viral infection or, in rare cases, during or after surgery. Rhabdomyolysis is a breakdown of muscle tissue that results in severe muscle weakness. The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). The presence of myoglobin causes the urine to be red or brown. The muscles may take up to a year to recover, and the episodes may worsen the muscle weakness caused by the neuropathy.

Congenital Heart Disease
Congenital (kon-JEN-ih-tal) heart defects are problems with the heart’s structure that are present at birth. These defects can involve:

The interior walls of the heart
The valves inside the heart



Many of these defects are simple conditions. They need no treatment or are easily fixed. Some babies are born with complex congenital heart defects. These defects require special medical care soon after birth.

The diagnosis and treatment of complex heart defects has greatly improved over the past few decades. As a result, almost all children who have complex heart defects survive to adulthood and can live active, productive lives.

Most people who have complex heart defects continue to need special heart care throughout their lives. They may need to pay special attention to how their condition affects issues such as health insurance, employment, birth control and pregnancy, and other health issues.


Cornelia de Lange Syndrome

Cortical visual impairment
Accompanying features of CVI include cerebral palsy and developmental delays.
In many cases, partial recovery of vision is possible.

Cystic Fibrosis
Cystic fibrosis is an inherited disease of the mucus glands that affects many body systems. The disorder’s most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems.
Most people with cystic fibrosis also have digestive problems because thick, sticky mucus interferes with the function of the pancreas. The pancreas is an organ that produces insulin (a hormone that helps control blood sugar levels). It also makes enzymes that help digest food. In people with cystic fibrosis, mucus blocks the ducts of the pancreas, preventing these enzymes from reaching the intestines to aid digestion. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight loss. Some babies with cystic fibrosis have meconium ileus, a blockage of the intestine that occurs shortly after birth.
Cystic fibrosis used to be considered a fatal disease of childhood. With improved treatments and better ways to manage the disease, many people with cystic fibrosis now live well into adulthood. Adults with cystic fibrosis experience medical problems affecting the respiratory, digestive, and reproductive systems. For example, most men with cystic fibrosis are unable to father children (infertile) because the tubes that carry sperm (the vas deferens) are blocked by mucus and do not develop properly. This condition is known as congenital bilateral absence of the vas deferens (CBAVD). Infertility is also possible, though less common, in women with cystic fibrosis.

Dandy-Walker Syndrome





Disruptive behavior disorder
Healthy Children > Health Issues > Conditions > Emotional Problems > Disruptive Behavior Disorders
Health Issues-+
Disruptive Behavior Disorders

Disruptive behavior disorders are among the easiest to identify of all coexisting conditions because they involve behaviors that are readily seen such as temper tantrums, physical aggression such as attacking other children, excessive argumentativeness, stealing, and other forms of defiance or resistance to authority. These disorders, which include ODD and CD, often first attract notice when they interfere with school performance or family and peer relationships, and frequently intensify over time.

Behaviors typical of disruptive behavior disorders can closely resemble ADHD—particularly where impulsivity and hyperactivity are involved—but ADHD, ODD, and CD are considered separate conditions that can occur independently. About one third of all children with ADHD have coexisting ODD, and up to one quarter have coexisting CD. Children with both conditions tend to have more difficult lives than those with ADHD alone because their defiant behavior leads to so many conflicts with adults and others with whom they interact. Early identification and treatment may, however, increase the chances that your child can learn to control these behaviors.

Down Syndrome
Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and poor muscle tone (hypotonia) in infancy. The degree of intellectual disability varies, but it is usually mild to moderate.
People with Down syndrome may be born with a variety of birth defects. About half of all affected children have a heart defect. Digestive abnormalities, such as a blockage of the intestine, are less common.
Adults with Down syndrome have an increased risk of developing Alzheimer disease, a brain disorder that results in a gradual loss of memory, judgment, and ability to function. Although Alzheimer disease is usually a disorder that occurs in older adults, about half of adults with Down syndrome develop this condition by age 50.

Dravet Syndrome
Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of epilepsy. It appears during the first year of life with frequent febrile seizures – fever-related seizures that, by definition, are rare beyond age 5. Later, other types of seizures typically arise, including myoclonus (involuntary muscle spasms). Status epilepticus – a state of continuous seizure requiring emergency medical care – also may occur. Children with Dravet syndrome typically experience poor development of language and motor skills, hyperactivity, and difficulty relating to others.

In 30 to 80 percent of cases, Dravet syndrome is caused by defects in a gene required for the proper function of brain cells. Borderline SMEI (SMEB) and another type of infant-onset epilepsy called generalized epilepsy with febrile seizures plus (GEFS+) are caused by defects in the same gene. In GEFS+, febrile seizures may persist beyond age.

Dysarthria is a condition that results in distorted speech. The cause is difficulty controlling or coordinating the muscles you use when you speak, or weakness of those muscles. Dysarthria often is characterized by slurred or slow speech that can be difficult to understand.

Common causes of dysarthria include stroke, brain injury, brain tumor, conditions that cause facial paralysis or weakness, and degenerative disorders. Dysarthria may also be caused by certain medications, such as sedatives or narcotics.

Emanuel Syndrome
Emanuel syndrome is a chromosomal disorder that disrupts normal development and affects many parts of the body. Infants with Emanuel syndrome have weak muscle tone (hypotonia) and fail to gain weight and grow at the expected rate (failure to thrive). Their development is significantly delayed, and most affected individuals have severe to profound intellectual disability.
Other features of Emanuel syndrome include an unusually small head (microcephaly), distinctive facial features, and a small lower jaw (micrognathia). Ear abnormalities are common, including small holes in the skin just in front of the ears (preauricular pits or sinuses). About half of all affected infants are born with an opening in the roof of the mouth (cleft palate) or a high arched palate. Males with Emanuel syndrome often have genital abnormalities. Additional signs of this condition can include heart defects and absent or unusually small (hypoplastic) kidneys; these problems can be life-threatening in infancy or childhood.

Treatment of dysarthria is directed at the underlying cause when possible, which may improve speech. Speech therapy often helps people with dysarthria improve speech. If dysarthria is caused by prescription medications, changing or discontinuing the medications may help.







Avoiding alcohol and spicy, fatty or acidic foods that trigger heartburn
Eating smaller meals
Not eating close to bedtime
Losing weight if needed
Wearing loose-fitting clothes
NIH: National Institute of Diabetes and Digestive and Kidney Diseases

Global Developmental Delay
Global developmental delay is used to describe an overall delay in two or more major areas of a child’s development. Developmental delays, in general, are looked for at regular visits to the doctor. The pediatrician will determine if global developmental delay is present. Causes for global developmental delay could be genetic or environmental. Some causes are genetic such as Fragile X syndrome, an inherited form of mental retardation, and Rett syndrome, an inherited disease that causes problems with the nervous system. Other causes are premature birth, lead exposure and thyroid problems. If you suspect your child has any developmental delays, you should discuss them with his pediatrician.

Growth Hormone Deficiency

Gillian Barre Syndrome

Hashimoto’s thyroiditis


Hashimoto’s disease may, in rare cases, be associated with other endocrine disorders caused by the immune system. Hashimoto’s disease can occur with adrenal insufficiency and type 1 diabetes. In these cases, the condition is called type 2 polyglandular autoimmune syndrome (PGA II).

Less commonly, Hashimoto’s disease occurs as part of a condition called type 1 polyglandular autoimmune syndrome (PGA I), along with:

Adrenal insufficiency
Fungal infections of the mouth and nails



Familial hyperaldosteronism is a condition in which the adrenal glands, which are small glands located on top of each kidney, produce excessive amounts of the hormone aldosterone. Aldosterone is sometimes called the salt-retaining hormone because it regulates the amount of salt retained by the kidneys. Excess aldosterone leads to increased retention of salt, which in turn increases the body’s fluid levels and blood pressure. People with familial hyperaldosteronism may experience severe high blood pressure (hypertension), often early in life. Without treatment, hypertension increases the risk of strokes, heart attacks, and kidney failure.
Familial hyperaldosteronism is categorized into three types. Familial hyperaldosteronism type I, in which hypertension generally appears in childhood, can be treated with certain steroid medications called glucocorticoids, and so it is also known as glucocorticoid-remediable aldosteronism (GRA). In familial hyperaldosteronism type II, hypertension usually appears in early to middle adulthood and does not improve with glucocorticoid treatment. Familial hyperaldosteronism type III is characterized by enlargement of the adrenal glands to up to six times their normal size. Affected individuals experience childhood onset of severe hypertension that is difficult to treat and often results in damage to organs such as the heart and kidneys.
There are other forms of hyperaldosteronism that are not familial. These conditions may be caused by various problems in the adrenal glands or kidneys. In some cases, no cause can be found.


Immune Disorder
By the component(s) of the immune system affected
By whether the immune system is overactive or underactive
By whether the condition is congenital or acquired

Immunoglobulin deficiencies
Immunoglobulin deficiency syndromes are a group of disorders that involve defects of any component of the immune system or a defect of another system that affects the immune system, leading to an increased incidence or severity of infection. In these disorders, specific diseasefighting antibodies (immunoglobulins such as IgG, IgA, and IgM) are either missing or are present in reduced levels. Children who have immunodeficiency syndromes may be subject to infection, diseases, disorders, or allergic reactions to a greater extent than individuals with fully functioning immune systems.

Infantile Spasms

Intellectual Disability
Intellectual disability refers to a group of disorders characterized by a limited mental capacity and difficulty with adaptive behaviors such as managing money, schedules and routines, or social interactions. Intellectual disability originates before the age of 18 and may result from physical causes, such as autism or cerebral palsy, or from nonphysical causes, such as lack of stimulation and adult responsiveness.

Ketotic hypoglycemia
Ketotic hypoglycemia is a medical term used in two ways: (1) broadly, to refer to any circumstance in which low blood glucose is accompanied by ketosis, and (2) in a much more restrictive way to refer to recurrent episodes of hypoglycemic symptoms with ketosis and, often, vomiting, in young children. The first usage refers to a pair of metabolic states (hypoglycemia plus ketosis) that can have many causes, while the second usage refers to a specific “disease” called ketotic hypoglyemia.

Lennox-Gastaut Syndrome

Melnick-Fraser Syndrome

Branchiootorenal (BOR) syndrome is a genetic condition that typically disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. The signs and symptoms of this condition can vary, however.
“Branchio-” refers to the second branchial arch, which is a structure in the developing embryo that gives rise to tissues in the front and side of the neck. In people with branchiootorenal syndrome, abnormal development of the second branchial arch can result in the formation of masses in the neck called branchial cleft cysts. In some people, abnormal connections called fistulae form passages between these cysts and the surface of the neck. Fistulae can also develop between the skin of the neck and the throat, near the tonsils. Branchial cleft cysts and fistulae can cause medical problems if they become infected.
“Oto-” refers to the ear; most people with branchiootorenal syndrome have hearing loss and other ear abnormalities. The hearing loss is known as sensorineural deafness if it is caused by changes in the inner ear, and conductive deafness if it is caused by changes in the middle ear. Branchiootorenal syndrome can also involve hearing loss that results from changes in both the inner ear and the middle ear, which is called mixed hearing loss. Other ear abnormalities associated with branchiootorenal syndrome include malformations of the inner ear or middle ear and abnormally shaped outer ears (pinnae). Some affected people also have tiny holes in the skin (preauricular pits) or small flaps of skin (preauricular tags) just in front of the ear.
“Renal” refers to the kidneys; branchiootorenal syndrome causes abnormalities of kidney structure and function. These abnormalities range from mild to severe and can affect one or both kidneys. In some cases, end-stage renal disease (ESRD) develops later in life. This serious condition occurs when the kidneys become unable to filter fluids and waste products from the body effectively.


Mitochondrial disease




Non-Verbal communicator
Nonverbal communication is usually understood as the process of communication through sending and receiving wordless (mostly visual) messages – i.e., language is not the only source of communication, there are other means also. Messages can be communicated through gestures and touch (Haptic communication), by body language or posture, by facial expression and eye contact. Meaning can also be communicated through object or artifacts (such as clothing, hairstyles or architecture). Speech contains nonverbal elements known as paralanguage, including voice quality, rate, pitch, volume, and speaking style, as well as prosodic features such as rhythm, intonation and stress. Dance is also regarded as a form of nonverbal communication. Likewise, written texts have nonverbal elements such as handwriting style, spatial arrangement of words, or the physical layout of a page.




Frequent temper tantrums
Excessive arguing with adults
Often questioning rules
Active defiance and refusal to comply with adult requests and rules
Deliberate attempts to annoy or upset people
Blaming others for his or her mistakes or misbehavior
Often being touchy or easily annoyed by others
Frequent anger and resentment
Mean and hateful talking when upset
Spiteful attitude and revenge seeking






PDD-NOS may be thought of as “subthreshold autism,” or a diagnosis one can give a person who has “atypical symptomatology.” 2 In other words, when someone has autistic characteristics but some of their symptoms are mild, or they have symptoms in one area (like social deficits), but none in another key area (like restricted, repetitive behaviors), they may be given the PDD-NOS label.


Pierre Robin Syndrome
Pierre Robin syndrome is a condition present at birth, in which the infant has a smaller than normal lower jaw, a tongue that falls back in the throat, and difficulty breathing.

Renal Tubular Acidosis
Distal renal tubular acidosis is a disease that occurs when the kidneys don’t remove acid properly into the urine, leaving the blood too acidic (called acidosis).

Rett Syndrome

Rubinstien Taybi Syndrome
Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. These signs and symptoms vary among affected individuals. People with this condition have an increased risk of developing noncancerous and cancerous tumors, including certain kinds of brain tumors. Cancer of blood-forming tissue (leukemia) also occurs more frequently in people with Rubinstein-Taybi syndrome.
Rarely, Rubinstein-Taybi syndrome can involve serious complications such as a failure to gain weight and grow at the expected rate (failure to thrive) and life-threatening infections. Infants born with this severe form of the disorder usually survive only into early childhood.

SCAD Deficiency
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a condition that prevents the body from converting certain fats into energy, especially during periods without food (fasting).
Signs and symptoms of SCAD deficiency may appear during infancy or early childhood and can include vomiting, low blood sugar (hypoglycemia), a lack of energy (lethargy), poor feeding, and failure to gain weight and grow at the expected rate (failure to thrive). Other features of this disorder may include poor muscle tone (hypotonia), seizures, developmental delay, and a small head size (microcephaly).
The symptoms of SCAD deficiency may be triggered by fasting or illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe condition that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.
In some people with SCAD deficiency, signs and symptoms do not appear until adulthood. These individuals are more likely to have problems related to muscle weakness and wasting.
The severity of this condition varies widely, even among members of the same family. Some individuals with SCAD deficiency never develop any symptoms of the condition.

Scheuermann’s disease
Scheuermann’s disease (pronounced ‘Shoy-eh-ah-man’ though very often mispronounced as ‘Sherman’) is a self-limiting skeletal disorder of childhood. It is also known as Sherman’s Disease, Scheuermann’s kyphosis (since it results in kyphosis), Calvé disease and Juvenile Osteochondrosis of the Spine. It is named after Holger Werfel Scheuermann.[1][2][3] Scheuermann’s disease describes a condition where the vertebrae grow unevenly with respect to the Sagittal plane; that is, the anterior angle is often greater than the posterior. This uneven growth results the signature “wedging” shape of the vertebrae, causing kyphosis.

Sensory processing disorder



Severe Anxiety

Severe Dystonia

Severe expressive and receptive disorder
Mixed receptive-expressive language disorder is generally a disorder of childhood. There are two types of mixed receptive-expressive language disorder: developmental and acquired. Developmental mixed receptive-expressive language disorder does not have a known cause and normally appears at the time that a child is learning to talk. Acquired mixed receptive-expressive language disorder is caused by direct damage to the brain . It occurs suddenly after such events as a stroke or traumatic head injury. The acquired type can occur at any age.

Read more: Mixed receptive-expressive language disorder – children, causes, DSM, people, brain, skills, health.

Severe scoliosis
There are three general causes of scoliosis:


Sleep apnea



NIH: National Heart, Lung, and Blood Institute.

Sleep Disorder

Insomnia – a hard time falling or staying asleep
Sleep apnea – breathing interruptions during sleep
Restless legs syndrome – a tingling or prickly sensation in the legs
Narcolepsy – daytime “sleep attacks”



Spina Bifida
Spina bifida is a condition in which the bones of the spinal column do not close completely around the developing nerves of the spinal cord. As a result, part of the spinal cord may stick out through an opening in the spine, leading to permanent nerve damage. Spina bifida results when a structure called the neural tube fails to close completely during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and spinal cord. Because spina bifida is caused by abnormalities of the neural tube, it is classified as a neural tube defect (NTD).
Children born with spina bifida often have a fluid-filled sac on their back covered by skin. If the sac contains part of the spinal cord and its protective covering, the abnormality is known as a myelomeningocele. If it does not, the abnormality is known as a meningocele. The signs and symptoms of these abnormalities range from mild to severe, depending on where the opening in the spinal column is located and how much of the spinal cord is affected. Related problems can include a loss of feeling below the level of the opening, weakness or paralysis of the feet or legs, and problems with bladder and bowel control. Some affected individuals have additional complications, including a buildup of excess fluid around the brain (hydrocephalus) and learning problems. With surgery and other forms of treatment, many people with spina bifida live into adulthood.
There is also a milder form of the condition called spina bifida occulta, in which the spinal column is abnormal but the nerves of the spinal cord do not stick out through an opening in the spine. Spina bifida occulta usually causes no health problems, although rarely it can cause back pain or changes in bladder function.

Spinal Muscular Atrophy Type II


Strabismic Amblyopia
Amblyopia, otherwise known as lazy eye,[1] is a disorder of the visual system that is characterized by poor or lack of vision in an eye that is otherwise physically normal, or out of proportion to associated structural abnormalities. It has been estimated to affect 1–5% of the population.[2]
The colloquialism “lazy eye” is frequently used to refer to amblyopia. The term “lazy eye” is imprecise because it is a layman’s term for strabismus, particularly exotropia. [3]



Tethered spinal cord syndrome

Ventriculomegaly is a brain condition that occurs when the lateral ventricles become dilated. The most common definition uses a width of the atrium of the lateral ventricle of greater than 10 mm.[1] This occurs in around 1% of pregnancies.[2] When this measurement is between 10 and 15 mm, the ventriculomegaly may be described as mild to moderate. When the measurement is greater than 15mm, the ventriculomegaly may be classified as more severe.[3] Enlargement of the ventricles may occur for a number of reasons, such as loss of brain volume (perhaps due to infection or infarction), or impaired outflow or absorption of cerebrospinal fluid from the ventricles. Often, however, there is no identifiable cause. The interventricular foramen may be congenitally malformed, or may have become obstructed by infection, hemorrhage, or rarely tumor, which may impair the drainage of cerebrospinal fluid, and thus accumulation in the ventricles. This diagnosis is generally found in routine fetal anomaly scans at 18–22 weeks gestation. It is one of the more common abnormal brain findings on prenatal ultrasound, occurring in around 1–2 per 1000 pregnancies.[4] In many cases of mild ventriculomegaly, however, there is resolution of ventriculomegaly during the pregnancy.

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