Our genetics clinic offers a means for diagnosis of birth defects and other genetic conditions and management of individuals with such conditions. Children, adults, and even entire families are seen in a caring environment in which the primary concern is that the needs of the family are met. Detailed diagnostic impressions, genetic counseling, and recommendations are discussed with the family and a summary is forwarded to the referring physician soon after consultation.
Three to four out of every one hundred babies are born with some type of birth defect. Some are apparent at birth and some are not. Accurate diagnosis of such disorders is important so that early intervention and management can be initiated as soon as possible, allowing the affected individual the best opportunity for ultimate developmental outcome.
Reasons for Referral
There are many indications for referral to our genetics clinics. These include, but are not limited to, dysmorphic features, multiple congenital malformations, developmental delay, hypotonia, disproportionate short stature, unusually tall stature, autistic features, speech and language delays, unusual skin pigmentation, progressive loss of developmental milestones, multiple/recurrent fractures, and history of a first-degree relative with a known genetic disorder.