Pediatric Genetics Services
The Division of Genetics provides evaluation, diagnosis and counseling for pediatric patients with genetic disorders. This allows best treatment of the child and opens the way for risk assessment of other family members; it may also be possible to estimate recurrence risk in future pregnancies in the family
We also provide coordination of care for the range of health problems affecting children with genetic disorders. A cohesive network of services has been established in which the Pediatric Genetics Clinic refers its patients to specialists throughout the hospital. Please make an appointment with the Pediatric Genetics Clinic (212 523-5895).
To access any of these services, please make an appointment for the Pediatric Genetics Clinic. The clinic is held at Mount Sinai West each Wednesday morning, and you will receive a one-on-one medical evaluation to assess the needs of your child and your family.
In addition to the above, the division also provides in-house consultation for patients in Mount Sinai West's Level III Neonatal Intensive Care Unit.
Common Reasons for Pediatric Genetics Evaluation
Developmental delay and/or mental retardation
If your child is not meeting developmental milestones at typical ages, genetic evaluation of the child's chromosomes and Fragile X gene may identify the problem. Normally, each cell in the body contains 23 pairs of chromosomes, packages of genetic information that are the blueprints to our bodies and development. There can be problems with chromosome number (an extra chromosome 21 is the cause of Down syndrome) or chromosome structure. Children who have abnormalities in chromosome number or chromosome structure may exhibit developmental delay or mental retardation. Genes are the individual units of heredity located on the chromosomes. Children who have a mutated Fragile X gene exhibit Fragile X syndrome. This syndrome includes developmental delay or mental retardation, and possibly, varying degrees of autistic-like behaviors. A genetic evaluation can lead to a correct diagnosis of your child's problem.
Slow childhood growth and low muscle tone
If a child is growing exceptionally slowly (a situation termed "failure to thrive"), a genetic evaluation may begin with measurement of head circumference, height, weight and degree of muscle tone. A metabolic disorder or chromosomal anomaly may result in failure to thrive, low muscle tone or neurologic anomalies. As warranted in each particular case, a geneticist may work in conjunction with an endocrinologist (a hormone doctor) or a neurologist (doctor of the brain and nerves) to diagnose and care for your child. We also may be able to counsel you on risks for other family members or future pregnancies.
Skeletal or connective tissue disorder
If your child is either very short or very tall for her age and family, there may be an underlying genetic problem. These include skeletal dysplasia and connective tissue disorders, such as Marfan syndrome and osteogenesis imperfecta. Each of these disorders results from a change in a single gene, the basic unit of heredity. The genetic counselor will coordinate and explain your child's diagnostic tests. If your child is diagnosed with a skeletal or connective tissue disorder, the geneticist will coordinate appropriate care, which may include an evaluation by an orthopedist or endocrinologist for bone conditions, or a variety of specialists for connective tissue problems. We also may be able to counsel you on risks for other family members or future pregnancies.
Skin and nerve abnormalities
When a child has skin pigment abnormalities, or other skin and nerve problems, otherwise known as neurocutaneous anomalies, a genetics evaluation may diagnose a disorder such as neurofibromatosis or tuberous sclerosis. Genes are the individual units of heredity; neurocutaneous anomalies are single-gene conditions that have varying degrees of severity. In some instances, one of the parents may have a very mild manifestation of the condition; in other instances the disease may result from a new genetic mutation (or change) in the child. Having a proper diagnosis will enable us to refer your child to the appropriate specialists for ongoing health care, and will allow us to counsel you on risks for other family members or future pregnancies.
If a child is exceptionally large or small, or if half of the child's body is larger than the other half, she or he may benefit from a genetic evaluation. Genes are the individual units of heredity. There are several genetic syndromes that can cause under- or overgrowth. In each of these syndromes, a change in a single gene causes symptoms or has manifestations in various body systems. Some examples are Russell Silver syndrome, Beckwith Weidemann syndrome, and Sotos syndrome. Having a proper diagnosis will enable us to refer your child to the appropriate specialists for ongoing health care, and will allow us to counsel you on risks for other family members or future pregnancies.
If a child has a clotting problem, the cause may be a genetic mutation (or change in the material of heredity). There is a group of proteins in the blood that work together for proper clotting in a healthy individual. If there are mutations in any of the genes that code for these proteins (also called factors), a bleeding problem may result. Examples of these bleeding disorders are Hemophilia A or Hemophilia B. As with other disorders, genetic evaluation can help you understand the nature and severity of the problem; we can also refer your child for appropriate medical care; finally, we may be able to estimate recurrence risks in your family and in future pregnancies.
In the general population, with any pregnancy there is a 2% to 3% risk for a birth defect. There are many types of birth defects, including heart defects, cleft lip with or without cleft palate, and clubbed foot. Some birth defects are isolated; an example would be a cleft lip and palate that is accompanied by no other problems or signs, which may be inherited in a family as an isolated entity. At other times, a birth defect is accompanied by other signs that point toward a genetic syndrome. Evaluation of a birth defect will often enable the geneticist to identify whether the birth defect is isolated or part of a genetic syndrome, and if so, refer the child for appropriate medical care. In either case, we may also be able to counsel you on risks for other family members or future pregnancies.
There are a variety of genetic disorders that involve progressive degeneration of the muscles. Genes are the individual unit of heredity, and the different types of muscular dystrophy are each single-gene disorders. Among them are Duchene Muscular Dystrophy, Becker Muscular Dystrophy, and other types that affect specific muscle groups. When a child is suspected of having a form of muscular dystrophy, genetic evaluation and testing can help you understand the nature and severity of the problem; we can also refer your child for appropriate medical care; finally, we may be able to estimate recurrence risks in your family and in future pregnancies.