MARSEILLE, FRANCE

Reference Center on Rare Intellectual Disability and Rare Congenital Malformations in PACA (Provence-Alpes-Côte d’Azur) – Marseille, South of France.

Coordinator: Prof. Nicole Philip, MD

Address: Medical Genetics Department, La Timone children hospital (Marseille Public University Hospital) – 264 rue Saint-Pierre 13385 MARSEILLE CEDEX 5 – FRANCE

Phone Number: 33 (0)4 91 38 67 49

Email:  rdv.genetique.medicale@ap-hm.fr 

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Marseille 22q center was created in 2005 and has seen approximately 300 patients with 22q. The age of patients ranges from newborn through late adulthood. The center follows 22q patients throughout their lifetime, and has also developed a network of specialists competent in 22q adults, particularly psychiatrists and endocrinologists.

Specialties served at the clinic include Cardiology, Developmental Pediatrics, Endocrinology, ENT (this includes craniofacial/cleft), Genetics, Immunology, Neuropsychology, Ophthalmology, Orthopedics, Plastic Surgery, Psychiatry, Speech Pathology, Audiology, Dental, General Pediatrics, Hematology, Nephrology, Pulmonary and GI/ Nutrition.

The group has been involved in research for 22q11.2 deletion syndrome since 1993, and is part of the International Consortium on Brain and Behavior in 22q11.2 deletion syndrome. Our clinic is part of Reference Center for Developmental Anomalies, which belongs to the European Reference Network ITHACA.

The Medical Genetics center is located at La Timone Children Hospital (AP-HM, Marseille Public University Hospital) where the full range of pediatric specialties required for 22q babies are available, including pediatric surgery and NICU. The genetic clinic has a central role for 22q patients with coordination of their individualized care plan and periodic evaluations. We offer multidisciplinary clinic with pediatric experts in different fields when needed. AP-HM institute has developed shared medical files (DPI) accessible to all doctors through individualized and secured access in order to improve patients care. First visit in our center is usually scheduled within a month after referral. An appointment can be planned within the week, in case of necessity.

According to the babies’ symptoms, clinics with other specialists (ENT, cardiologist…) will be managed on the same day. During the clinic, doctors give attention to family concerns and perform a complete examination of the baby. Generally, blood sample will be performed (with parent consent) to confirm diagnostic and precise genetic counseling. An appointment with clinical psychologist may be planned on the same day or later.

The clinical genetics unit is involved in the French and the European rare disease reference networks for Neurodevelopmental Disorders, Intellectual Disabilities and Congenital Anomalies: AnDDI-Rares network and ITHACA ERN.

The center is located in the Children’s University Hospital of la Timone in Marseille, in the immediate vicinity of the hospital for adults. We work with a network of referent physicians in all medical and surgical specialties. Recently we developed a new partnership with a reference center for rare psychiatric disorders.