Reference Center for Congenital Malformations and Intellectual Disability
The Reference Center for Congenital Malformations and Intellectual Disability Provides:
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Expert neonatologist, pediatrician, geneticist, neurosurgeon, child and adolescent psychiatrist, neurologist, pediatric neurologist, cardiac surgeon, radiologist, pediatric surgeon, ortopedist-traumatologist, maxillofacial surgeon consultations for patients with congenital malformations and intellectual disability
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Congenital malformations and intellectual disability diagnostics by cytogenetic (karyotyping, fluorescent in-situ hybridization (FISH), molecular cytogenetic (single nucleotide polymorphism - comparative genomic hybridization) and modern molecular genetic methods (Sanger sequencing, next generation exome/genome sequencing)
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Personalized follow-up and treatment for patients with congenital malformations and/or intellectual disability
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Testing of complext child developmental disorders; developmental evalutaion; family counselling; complex multidisciplinary care for the patient and his family
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Psychological support: patient and their family members counselling, supportive therapy, relaxation techniques and coping strategies
Pathology covered by the Reference Center for Congenital Malformations and Intellectual Disability
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Rare disease groups |
Disease codes (ORPHA) |
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Multiple congenital anomalies/dysmorphic syndrome without intellectual disability |
ORPHA: 102285 |
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Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome |
ORPHA: 102284 |
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Rare intellectual disability |
ORPHA: 87277 |
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Rare syndromic intellectual disability |
ORPHA: 102369 |
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ORPHA: 68335 |
