Clinical Genetics

The Clinical Genetics section provides comprehensive diagnostic evaluations, follow-up care and genetic counseling for both inpatients and outpatients. Patients are seen by a clinical geneticist and a genetic counselor. Individuals with developmental delays, intellectual disabilities, birth defects, multisystem medical problems, unusual facial features or failure to thrive are referred for evaluation and diagnosis of a genetic syndrome or a chromosomal abnormality.

Programs

First-time evaluations take place in the Genetics Clinic. Patients with a known diagnosis are also followed in this clinic to provide families with updated information regarding their condition.

We offer a specific genetics clinic for patients with hearing loss, both isolated and syndromic. Evaluation and genetic counseling are provided.

The section offers a multispecialty clinic, the 22q and You Center, for children and adults with a chromosome 22q11.2 deletion. This is the largest program in the country specializing in this condition. Here, patients may be seen by as many as 15 subspecialists with expertise in this diagnosis over a three- to five-day period. Appointments are coordinated by the center. The program includes a parent support group and a newsletter entitled "22q and You."

As part of the Cleft Lip and Palate Clinic and the Craniofacial Clinic, the geneticists and genetic counselors perform diagnostic evaluations and offer patients the latest in diagnostic testing in these areas. Many patients with specific genetic conditions are evaluated through subspecialty clinics specific to their condition. These include clinics for:

  • Cornelia de Lange
  • Williams syndrome
  • Alagille syndrome
  • Connective tissue disorders including Marfan and Ehlers-Danlos syndromes
  • Neurogenetic disorders
  • Congenital heart disease
  • Ophthalmologic genetics
  • Orthopaedic genetics
  • Dermatologic genetics

The multispecialty Marfan and Williams Syndrome Clinics, in addition to providing superior care, offer patients a means to schedule all necessary tests and appointments into one or two days.

For more information or to refer a patient, call 215-590-2920.