Genetics
The Genetics Program at the Alfred I. duPont Hospital for Children provides families with information related to the thousands of known diseases that may be hereditary in origin. Such information may assist in making a diagnosis, in developing a treatment plan, in understanding the cause and prognosis of a disease, and in making family planning decisions. The program is directed by a pediatrician board-certified in Pediatrics and Genetics, and staffed by two full-time genetic counselor and three other board-certified pediatric geneticists. The patient is examined, and the patients family and medical histories are taken and supplemented, if necessary, by additional testing, including chromosome analysis, metabolic studies, molecular testing (DNA), as well as various medical imaging procedures. The program takes a longitudinal approach to the treatment and management of genetic disorders.
The use of DNA probes and other molecular laboratory techniques brings state-of-the-art technologies to patients with selected musculoskeletal disorders as well as those with connective tissue and collagen diseases. Other specialties include craniofacial disorders and metabolic disease. Other pediatric subspecialties such as Neurology, Ophthalmology, Endocrinology, and Orthopedic Surgery are frequently consulted in conjunction with the child’s medical needs.
Services Available:
- Diagnosis of genetic disorders
- Management of genetic disorders
- Genetic counseling and testing
- Metabolic screening tests
- Skin fibroblast cultures
- Pre-adoption evaluations for domestic and international adoptions
- State-of-the-art chromosome analysis
Typical Diagnoses/Problems:
- Skeletal dysplasia/dwarfism
- Multiple congenital anomalies
- Developmental delay
- Marfan syndrome
- Neurofibromatosis
- Osteogenesis imperfecta
- Chromosome anomalies
- Arthrogryposis
- Cleft lip and palate
- Fetal alcohol syndrome
- Lymphedema
- Short stature
- Dysmorphism
- Ehlers-Danlos syndrome
- Achondroplasia
- Klinefelter syndrome
- Down syndrome
- Angelman syndrome
- Tall stature
- Diastrophic dysplasia
- Multiple epiphyseal dysplasia
- Prader Willi syndrome
- Cornelia de Lange syndrome
- Mental retardation
- Fragile X syndrome
- Cleidocranial dysplasia
- Williams syndrome
- Costello syndrome
- Chromosome 22q deletion
- Apert syndrome
- Metabolic disorders
- Ellis-Van Creveld syndrome
- Cartilage Hair syndrome
- Spondyloepiphyseal dysplasia
- Metatropic dysplasia
- Kniest dysplasia
- Schmid type metaphyseal chondrodysplasia
- Arthro-ophthalmopathy
- Hypochondroplasia
- Waardenburg syndrome
- In utero growth retardation (IUGR)
- Jarcho-Levin syndrome
- Trichorhinophalangeal dysplasia
- Larsen syndrome
- Thanatophoric dysplasia
- Moebius syndrome
- Amniotic bands/congenital constriction bands/ADAM complex
- Pseudoachondroplasia
- Tuberous sclerosis
- Russell-Silver syndrome
- Primordial dwarfism
- Cockayne syndrome
- Campomelic dysplasia
- Rubinstein-Taybi syndrome
- In utero exposure to teratogens
- Freeman-Sheldon syndrome
