Category Archives: Symptoms

Trisomy 13 syndrome

Trisomy 13 syndrome is a disorder of human chromosomes which occurs in approximately 1 in 10,000 live born infants. Trisomy refers to three copies of a chromosome instead of the normal two and in Trisomy 13 there is the presence of an extra #13 chromosome. Approximately 80% of infants with Trisomy 13 syndrome will have a full trisomy (affecting all cells) while the remainder will have a trisomy due to a rearrangement of cells called a translocation (an attachment of all or part of one chromosome to another chromosome) or have mosaicism (two different cell lines in an individual such as normal cells and trisomy cells).

Infants born with Trisomy 13 have a recognizable pattern of physical features that often allows the health professional to make the diagnosis of the syndrome. (Genetic testing must be done to confirm diagnosis.) Notable physical birth defects and, sometimes, anatomic changes of internal organs are present. Findings of significance include small head size (microcephaly); small eyes (microphthalmia) or sometimes an absent eye or faulty development of the retina. Cleft lip or cleft palate or both occur in about 60% of children. In addition, there are a number of less medically significant physical findings that are helpful in diagnosis. These include variations of ear shape, changes on the palm of the hand, and extra fingers and toes. Changes in foot development, including changes to the heel, the so-called rocker bottom foot, can occur.

Heart Defects
About 80% of children with Trisomy 13 will have a congenital heart defect. This can include: ventricular septal defect (VSD), an opening between the lower chambers of the heart which prevents the heart from pumping blood correctly (a heart murmur is generally heard from this finding); atrial septal defect (ASD), an opening between the two upper chambers of the heart making it difficult for the heart to pump sufficient oxygen-rich blood to body tissues (a heart murmur is often heard); patent ductus arteriosis (PDA), a defect involving the lack of closure of the channel that usually closes near the time of birth and thus remains open; and dextrocardia, which is a location of the heart on the right side of the chest. The majority of heart lesions are usually not those that cause death in the neo-natal period but on occasion more medically serious heart defects can occur in Trisomy 13.

Synonyms:

Trisomy 13
Patau Syndrome
Trisomy 13-15
D Trisomy Syndrome

(the last two terms are usually not used at the present time)

Medical Problems
The major implications of Trisomy 13 involve a predisposition to the congenital malformations (birth defects) mentioned above, an increased mortality in infancy and developmental and motor disability in older children. In addition, older infants can have visual difficulties because of the findings mentioned above and a hearing loss. The increased mortality is related to difficulties with breathing due either to interrupted breathing (apnea) or problems of lung development. In addition, gastroesophageal reflux (backward flow of a small amount of stomach contents upward to the throat) and feeding problems can occur and predispose to aspiration (small amount of liquid inhaled or trickled into the lungs) which can precipitate aspirational pneumonia.

Important and Common Birth Defects in Trisomy 13

Omphalocele 10%
Holoprosencephaly 60% (an anatomic defect of the brain involving failure of the forebrain to divide properly)
Kidney defects 30%
Skin defects of the scalp 20%

Common Disorders in infants and young children with Trisomy 13

Feeding difficulties
Gastroesophageal reflux
Slow post natal growth
· Apnea
Seizures
Hypertension
Kidney defects
Developmental disabilities
Scoliosis

Routine follow-up care of infants with Trisomy 13

Routine child care/anticipatory guidance
Cardiac evaluation
Eye evaluation
Hearing test
Referral for Infant pre-school/early intervention program
Ongoing Support
Scoliosis check through childhood
Routine immunization including chicken pox

5p- Syndrome

Leave a reply

Each year in the United States, approximately 50 to 60 children are born with 5p- Syndrome (five p minus), also known as Cat Cry Syndrome or Cri du Chat Syndrome. 5p- Syndrome is characterized at birth by a high pitched cry, low birth weight, poor muscle tone, microcephaly, and potential medical complications. “5p-“ is a term used by geneticists to describe a portion of chromosome number five that is missing in these individuals.

Children born with this rare genetic defect will most likely require ongoing support from a team of parents, therapists, medical professionals, educational professionals and extended family members to help the child achieve his or her maximum potential.

Years ago, it was common to place children with 5p- Syndrome in institutions with other severely developmentally delayed individuals. During the early 1980’s research revealed that those raised in family settings with the benefit of early intervention programs made remarkable progress, far exceeding the expectations of doctors who first described the syndrome.

Most individuals who have 5p- Syndrome have difficulty with language. Some become able to use short sentences, while others express themselves with a few basic words, gestures or sign language.

Nearly all children with 5p- Syndrome have poor muscle tone when they are young. Other characteristics may include feeding difficulties, delays in walking, hyperactivity, scoliosis, reflux, asthma and significant cognitive delays. A small number of children are born with serious organ defects and other life threatening medical conditions, although most individuals with 5p- can anticipate a normal life expectancy.

Both children and adults with this syndrome are usually friendly and happy, and enjoy social interaction. With early and consistent educational interventions, as well as physical and language therapy, children with 5p- Syndrome are capable of reaching their fullest potential and can lead full and meaningful lives.

For additional information, please contact the 5p- Society at director@fivepminus.org or (888)970-0777.

Williams syndrome

Leave a reply

Williams syndrome is a genetic condition that is present at birth and can affect anyone. It is characterized by medical problems, including cardiovascular disease, developmental delays, and learning disabilities. These occur side by side with striking verbal abilities, highly social personalities and an affinity for music.

WS affects 1 in 10,000 people worldwide – an estimated 20,000 to 30,000 people in the United States. It is known to occur equally in both males and females and in every culture.

Unlike disorders that can make connecting with your child difficult, children with WS tend to be social, friendly and endearing. Parents often say the joy and perspective a child with WS brings into their lives had been unimaginable.

But there are major struggles as well. Many babies have life-threatening cardiovascular problems. Children with WS need costly and ongoing medical care, and early interventions (such as speech or occupational therapy) that may not be covered by insurance or state funding. As they grow, they struggle with things like spatial relations, numbers and abstract reasoning, which can make daily tasks a challenge. And as adults, most people with WS need supportive housing to live to their fullest potential. Many adults with WS contribute to their communities as volunteers or paid employees, for example working at senior homes and libraries or as store greeters or veterinary aides.

Just as important are opportunities for social interaction. As people with WS mature – beyond the structure of school and family activities – they often experience intense isolation which can lead to depression. They are extremely sociable and experience the normal need to connect with others; however people with Williams syndrome often don’t process nuanced social cues and this makes it difficult to form lasting relationships.

Common features of Williams syndrome include:

Characteristic facial appearance
Most young children with Williams syndrome are described as having similar facial features. These features include a small upturned nose, long philtrum (upper lip length), wide mouth, full lips, small chin, and puffiness around the eyes. Blue and green-eyed children with Williams syndrome can have a prominent “starburst” or white lacy pattern on their iris. Facial features become more apparent with age.

Heart and blood vessel problems
The majority of individuals with Williams syndrome have some type of heart or blood vessel problem. Typically, there is narrowing in the aorta (producing supravalvular aortic stenos is SVAS), or narrowing in the pulmonary arteries. There is a broad range in the degree of narrowing, ranging from trivial to severe (requiring surgical correction of the defect). Since there is an increased risk for development of blood vessel narrowing or high blood pressure over time, periodic monitoring of cardiac status is necessary.

Hypercalcemia (elevated blood calcium levels)
Some young children with Williams syndrome have elevations in their blood calcium level. The true frequency and cause of this problem is unknown. When hypercalcemia is present, it can cause extreme irritability or “colic-like” symptoms. Occasionally, dietary or medical treatment is needed. In most cases, the problem resolves on its own during childhood, but lifelong abnormality in calcium or Vitamin D metabolism may exist and should be monitored.

Low birth-weight / slow weight gain
Most children with Williams syndrome have a slightly lower birth-weight than their brothers or sisters. Slow weight gain, especially during the first several years of life, is also a common problem and many children are diagnosed as “failure to thrive”. Adult stature is slightly smaller than average.

Feeding problems
Many infants and young children have feeding problems. These problems have been linked to low muscle tone, severe gag reflex, poor suck/swallow, tactile defensiveness etc. Feeding difficulties tend to resolve as the children get older.

Irritability (colic during infancy)
Many infants with Williams syndrome have an extended period of colic or irritability. This typically lasts from 4 to 10 months of age, then resolves. It is sometimes attributed to hypercalcemia. Abnormal sleep patterns with delayed acquisition of sleeping through the night may be associated with the colic.

Dental abnormalities
Slightly small, widely spaced teeth are common in children with Williams syndrome. They also may have a variety of abnormalities of occlusion (bite), tooth shape or appearance. Most of these dental changes are readily amenable to orthodontic correction.

Kidney abnormalities
There is a slightly increased frequency of problems with kidney structure and/or function.

Hernias
Inguinal (groin) and umbilical hernias are more common in Williams syndrome than in the general population.

Hyperacusis (sensitive hearing)
Children with Williams syndrome often have more sensitive hearing than other children; Certain frequencies or noise levels can be painful an/or startling to the individual. This condition often improves with age.

Musculoskeletal problems
Young children with Williams syndrome often have low muscle tone and joint laxity. As the children get older, joint stiffness (contractures) may develop. Physical therapy is very helpful in improving muscle tone, strength and joint range of motion.

Overly friendly (excessively social) personality
Individuals with Williams syndrome have a very endearing personality. They have a unique strength in their expressive language skills, and are extremely polite. They are typically unafraid of strangers and show a greater interest in contact with adults than with their peers.

Developmental delay, learning disabilities and attention deficit disorder
Most people with Williams syndrome mild to severe learning disabilities and cognitive challenges. Young children with Williams syndrome often experience developmental delays. Milestones such as walking, talking and toilet training are often achieved somewhat later than is considered normal. Distractibility is a common problem in mid-childhood, which can improve as the children get older.

Older children and adults with Williams syndrome often demonstrate intellectual “strengths and weaknesses.” There are some intellectual areas (such as speech, long term memory, and social skills) in which performance is quite strong, while other intellectual areas (such as fine motor and spatial relations) show significant weakness.

Triple X Syndrome

Leave a reply

Triple X syndrome, also known as Trisomy X, 47,XXX aneuploidy, and Triplo-X, XXX Syndrome is a chromosomal abnormality that affects approximately 1 in every 1,000 females. A healthy female has two X chromosomes, one from her father and one from her mother. A female with triple-X syndrome has three X chromosomes.

According to the NIH (National Institutes of Health), USA, 5 to 10 girls with triple X syndrome are born in the USA each day.

A female with triple-X syndrome does not inherit it from her parents. The syndrome generally results from a mistake in the formation of the father’s sperm cell or the mother’s egg. In some cases triple-X syndrome may be the result of something that went wrong in the development of the embryo.

A girl with triple X syndrome may either have no symptoms, just mild ones, or more severe ones with developmental delays. Developmental delays may include learning disabilities, delayed development of speech and language skills, as well as motor skills. There may be behavioral and emotional difficulties. Approximately 10% of affected females have seizures or kidney abnormalities. Among those who do have symptoms, they will vary widely from person-to-person.

Triple X syndrome treatment varies and depends on which symptoms are present, and how severe they are.

Unlike the majority of other chromosomal conditions, there is usually no clear visual difference between a female with triple X syndrome and other females. Some females with triple X syndrome may be taller than average. Most individuals with the syndrome have normal sexual development and can conceive children. Infertility is possible in some cases, but it is rare.

Most medical professionals do not regard the condition as a disability.

What are the signs and symptoms of triple X syndrome?
A symptom is something the patient senses and describes, while a sign is something other people, such as the doctor notice. For example, drowsiness may be a symptom while dilated pupils may be a sign.

In all female cells, only one X chromosome is active at any time. Consequently, triple X syndrome generally does not cause unusual physical features or medical problems. In other words, in the majority of cases there are no signs or symptoms. If symptoms do occur, they may include:

Delayed language skill development
Delayed motor skill development, resulting in poor coordination, awkwardness, and/or clumsiness.
In very rare cases, infertility
Some may have menstrual irregularities
Some may experience an early onset of menstruation

If physical features are present they will be very mild:

Tall stature
Microcephaly (small head)
Epicanthal folds – a vertical fold of skin that comes down across the inner angle of the eye.
Increased width between the eyes

22q11.2 Deletion Syndrome

Leave a reply

Defining 22q11.2 Deletion Syndrome
22q deletion syndrome has been called by many names, reflecting the constellation of clinical manifestations that have been identified over time. More recently, molecular genetic research has revealed that all of the syndromes listed below have one common link … there is a small amount of genetic material missing, termed a microdeletion, on the long arm (referred to as the q arm) of chromosome 22. Many now simply refer to all of these syndromes as 22q11.2 deletion syndrome:

DiGeorge Syndrome (DGS)
Velocardiofacial Syndrome (VCFS)
Conotruncal Anomaly Face Syndrome
Autosomal Dominant Opitz G/BBB Syndrome
Cayler Cardiofacial Syndrome
Shprintzen Syndrome

The 22q11.2 deletion syndrome occurs in approximately 1 out of every 4,000 live births. In most cases, the 22q deletion occurs de novo (the patient is the first in the family to have this deletion). In approximately one in 10 families (10%) the deletion is present because one of the parents has the same deletion and passes it on to their baby. As a result, parents of a baby born with 22q11.2 deletion syndrome should have a blood test to determine their chances of having other children with the syndrome.

Signs and Symptoms
There are a variety of physical and behavioral disorders that have been linked to 22q11.2 deletion syndrome. The syndrome has the potential to impact every system in the body and can therefore lead to a wide-range of health issues. The majority of 22q11.2 deletion syndrome patients have congenital heart defects, most often conotruncal abnormalities (tetralogy of Fallot, interrupted aortic arch, ventricular septal defect (VSD), vascular ring, and truncus arteriosus) and palatal defects, including submucosal cleft palate and velopharyngeal dysfunction (VPD). VPD (also referred to as velopharyngeal insufficiency, or VPI) is usually manifest as abnormal nasal air escape and hypernasal speech. Some of the other common problems associated with 22q11.2 deletion syndrome include:

Feeding difficulties, including nasal regurgitation of food and fluids, vomiting or “spitting up”, gastroesophageal reflux (GERD)
Hypocalcemia
Gastrointestinal problems, including constipation, and GERD
Immune system disorders, including recurrent ear infections (otitis) and sinusitis, respiratory infections, and autoimmune diseases
Kidney disorders – approximately 35 percent of these patients may have a missing or malformed kidney.
ENT problems, including laryngeal webs and external ear anomalies
Asymmetric crying facies
Cleft lip and palate
Orthopedic issues, such as scoliosis, club feet, cervical spine abnormalities, and extra fingers or toes
Inguinal, umbilical and diaphragmatic hernias
Growth problems, sometimes associated with growth hormone deficiency
Developmental delays, including both language and motor skills delays
Autism
Obsessive-compulsive disorder (OCD)