Treatment Programs

photo

Stickler Syndrome Clinic

The Stickler Syndrome Clinic at MassGeneral Hospital for Children provides evaluation and multidisciplinary medical care for adults and children who have been diagnosed with Stickler syndrome.

  • 617-726-1561

Stickler syndrome, or hereditary arthroophthalmology, is a genetic disorder first described by Gunnar Stickler in 1965 and 1967. The pattern of inheritance is most commonly autosomal dominant, although a family showing autosomal recessive inheritance has been reported.

Stickler syndrome can be associated with eye problems such as:

  • Near sightedness
  • Astigmatism
  • Lazy eye
  • Vitreoretinal degeneration
  • Retinal holes and detachment
  • Cataract
  • Glaucoma

There is also a characteristic facial appearance with mid-facial flattening, small chin, palate abnormalities and malocclusion. There can also be sensorineural hearing loss, joint and spine abnormalities, early onset degenerative arthritis and mitral valve prolapse. An affected person does not need to have all of these features to be diagnosed. Stickler syndrome has a prevalence of one in ten thousand in the Caucasian population in the United States and may be the most common inherited cause of retinal detachment and blindness.

Ruth Liberfarb, MD, made her first diagnosis of Stickler syndrome in 1976. Over the past 30 years, she has done clinical research on Stickler syndrome, publishing a number of journal articles highlighting the intra- and inter-familial variability, expanding the details of the clinical features and demonstrating that a mutation in the type II collagen gene locus col2A1 is a causative of Stickler syndrome in some families. It is now known that Stickler syndrome is caused by mutations in four gene loci (col2A1, col11A, col11A2 and col9A1) and linkage studies show that there is at least one other yet unidentified locus.

Most recently, Dr. Liberfarb worked as a consultant medical geneticist of the NIH/NIA Stickler Syndrome Study, supported by Massachusetts General Hospital with funds from NIH and NIA. She followed over 60 affected families, published 15 journal articles and co-authored chapters on the medical management of Stickler syndrome in two editions of the textbook Management of Genetic Syndromes. She has also talked at a number of annual meetings of the support group “Stickler Involved People” (SIP) and was on the advisory board for a 29-minute informational video, Stickler Syndrome: Learning the Facts available for $20.00 plus shipping and handling from Canada. Dr. Liberfarb is on the advisory board for the national organization for rare disorders (NORD).

Dr. Liberfarb will coordinate multidisciplinary medical care for adults and children with Stickler syndrome and be available to evaluate patients for whom the diagnosis has been raised. Her evaluation will include: a comprehensive family and medical history, a physical examination, clinical tests (including x-rays and DNA analysis), and referrals as needed to: an ophthalmologist or retina specialist; to an audiologist for a hearing evaluation; to an orthodontist for a dental evaluation; to an orthopedist or rheumatologist for a musculoskeletal evaluation; to a physiatrist for pain management; to a physical therapist; and to a specialist in reproductive medicine and in-vitro fertilization.

MGHfC Stickler Syndrome

Yawkey Center for Outpatient Care
Suite 6C
32 Fruit Street
Boston, MA 02114

Phone: 617-726-1561

Public Transportation Access: yes
Disabled Access: yes

Next Steps:

  • 617-726-1561
patient

Make an appointment

Contact MassGeneral Hospital for Children to schedule an appointment with one of our specialists.

patient

Family-centered care

We respect that the family is the center of a child’s life and we welcome families to participate in every aspect of their child’s care.

patient

Partners HealthCare Patient Gateway

Secure, convenient online access to your child's health information whenever you need it.