Zentrum für Syndromale Entwicklungsstörungen am Universitätsklinikum Heidelberg
        
    Description of facility
Director / Spokesperson
Prof. Dr. med. Maja HempelInformation
Care facility for childrenDescription
            Das Zentrum ist Teil der Klinik für Neuropädiatrie mit Sozialpädiatrischem Zentrum (SPZ) am Zentrum für Kinder- und Jugendmedizin und der Genetischen Poliklinik des Instituts für Humangenetik. Die sehr enge interdisziplinäre Vernetzung des Zentrums für Syndromale Entwicklungsstörungen hat deutschlandweit Modellcharakter: Zu den Kooperationspartnern gehören weitere Kliniken innerhalb des Universitätsklinikums sowie externe Einrichtungen wie z.B. Rehabilitationszentren. Das speziell geschulte Team besteht aus Kinderneurologen, Humangenetikern, Kinderkrankenschwestern sowie Fachleuten für Kinderpsychologie, Sozialpädagogik, Ergotherapie, Logopädie, Physiotherapie und Ernährungsberatung.
        
    Care provisions
This facility offers the following
- Genetic counselling
- Diagnostic
- Therapy
- 
                        Contact person for patients with an unclear diagnosis
 sind gebeten, sich an die Koordinatorin des Zentrums, Frau Dr. Okun (06221 564503, seltene.erkrankungen@med.uni-heidelberg.de) zu wenden.
 Telefonische Sprechzeiten: Mo - Fr 9:00 - 11:00 Uhr, Di u. Do 14:00 - 16:00 Uhr.
Contact
            
             Leitstelle
            
             06221 564837
            
            
            seltene.erkrankungen@med.uni-heidelberg.de
            
            
             Website
        https://www.klinikum.uni-heidelberg.de/interdisziplinaere-zentren/zentrum-fuer-seltene-erkrankungen/fachzentren
        
        
Languages
            
            
            
            
             Deutsch
 Deutsch
            
             Englisch
 Englisch
            
            
            
    
Preview of the assigned diseases 3
                    
                        
                        
                        3q13 microdeletion syndrome
                        
                    
                        
                        
                        2p21 microdeletion syndrome without cystinuria
                        
                    
                        
                        
                        20q13.33 microdeletion syndrome
                        
                    
                        
                        
                        14q24.1q24.3 microdeletion syndrome
                        
                    
                        
                        
                        13q12.3 microdeletion syndrome
                        
                    
                        
                        
                        15q11.2 microdeletion syndrome
                        
                    
                        
                        
                        Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
                        
                    
                        
                        
                        Homozygous 2p21 microdeletion syndrome
                        
                    
                        
                        
                        21q22.11q22.12 microdeletion syndrome
                        
                    
                        
                        
                        Smith-Magenis syndrome
                        
                    
                        
                        
                        Distal 22q11.2 microdeletion syndrome
                        
                    
                        
                        
                        Rare chromosomal anomaly
                        
                    
                        
                        
                        Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
                        
                    
                        
                        
                        Proximal 16p11.2 microdeletion syndrome
                        
                    
                        
                        
                        3p25.3 microdeletion syndrome
                        
                    
                        
                        
                        Distal 17p13.1 microdeletion syndrome
                        
                    
                        
                        
                        14q22q23 microdeletion syndrome
                        
                    
                        
                        
                        3q26q27 microdeletion syndrome
                        
                    
                        
                        
                        1p21.3 microdeletion syndrome
                        
                    
                        
                        
                        Temple syndrome due to paternal 14q32.2 microdeletion
                        
                    
                        
                        
                        22q11.2 deletion syndrome
                        
                    
                        
                        
                        Megalencephaly
                        
                    
                        
                        
                        2p15p16.1 microdeletion syndrome
                        
                    
                        
                        
                        2p21 microdeletion syndrome
                        
                    
                        
                        
                        16p11.2p12.2 microdeletion syndrome
                        
                    
                        
                        
                        1q21.1 microdeletion syndrome
                        
                    
                        
                        
                        Sporadic fetal brain disruption sequence
                        
                    
                        
                        
                        17q11 microdeletion syndrome
                        
                    
                        
                        
                        Distal 16p11.2 microdeletion syndrome
                        
                    
                        
                        
                        1p31p32 microdeletion syndrome
                        
                    
                        
                        
                        Diencephalic-mesencephalic junction dysplasia
                        
                    
                        
                        
                        8q22.1 microdeletion syndrome
                        
                    
                        
                        
                        1q41q42 microdeletion syndrome
                        
                    
                        
                        
                        16p13.11 microdeletion syndrome
                        
                    
                        
                        
                        12p12.1 microdeletion syndrome
                        
                    
                        
                        
                        2q37 microdeletion syndrome
                        
                    
                        
                        
                        11q22.2q22.3 microdeletion syndrome
                        
                    
                        
                        
                        15q13.3 microdeletion syndrome
                        
                    
                        
                        
                        16q24.1 microdeletion syndrome
                        
                    
                        
                        
                        8q21.11 microdeletion syndrome
                        
                    
                        
                        
                        Rare developmental defect during embryogenesis
                        
                    
                        
                        
                        2q31.1 microdeletion syndrome
                        
                    
                        
                        
                        Cohen syndrome
                        
                    
                        
                        
                        2q32q33 microdeletion syndrome
                        
                    
                        
                        
                        17q21.31 microdeletion syndrome
                        
                    
                        
                        
                        19p13.13 microdeletion syndrome
                        
                    
                        
                        
                        Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
                        
                    
                        
                        
                        16q24.3 microdeletion syndrome
                        
                    
                        
                        
                        Rare pervasive developmental disorder
                        
                    
                        
                        
                        SATB2-associated syndrome due to a chromosomal rearrangement
                        
                    
                        
                        
                        Distal 17p13.3 microdeletion syndrome
                        
                    
                        
                        
                        14q11.2 microdeletion syndrome
                        
                    
                        
                        
                        2p13.2 microdeletion syndrome
                        
                    
                        
                        
                        4q21 microdeletion syndrome
                        
                    
                        
                        
                        5q14.3 microdeletion syndrome
                        
                    
                        
                        
                        17q12 microdeletion syndrome
                        
                    
                        
                        
                        1p35.2 microdeletion syndrome
                        
                    
                        
                        
                        19q13.11 microdeletion syndrome
                        
                    
                        
                        
                        10q22.3q23.3 microdeletion syndrome
                        
                    
                        
                        
                        Non-syndromic cerebral malformation due to abnormal neuronal migration
                        
                    
                        
                        
                        1q44 microdeletion syndrome
                        
                    
                        
                        
                        2q23.1 microdeletion syndrome
                        
                    
                        
                        
                        20p13 microdeletion syndrome
                        
                    
                        
                        
                        17q23.1q23.2 microdeletion syndrome
                        
                    
                        
                        
                        12q15q21.1 microdeletion syndrome
                        
                    
                        
                        
                        Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
                        
                    
                        
                        
                        12q14 microdeletion syndrome
                        
                    
                        
                        
                        Fragile X syndrome
                        
                    
                        
                        
                        6p22 microdeletion syndrome
                        
                    
                        
                        
                        15q24 microdeletion syndrome
                        
                    
                        
                        
                        3q29 microdeletion syndrome
                        
                    
                        
                        
                        Non-syndromic cerebral malformation
                        
                    
                        
                        
                        FOXG1 syndrome due to 14q12 microdeletion
                        
                    
                        
                        
                        Encephaloclastic disorder
                        
                    
                        
                        
                        Rett syndrome
                        
                    
                        
                        
                        6q25 microdeletion syndrome
                        
                    
                        
                        
                        Hemimegalencephaly
                        
                    
                        
                        
                        Isolated congenital microcephaly
                        
                    
                        
                        
                        Contractures-developmental delay-Pierre Robin syndrome
                        
                    
                        
                        
                        20q11.2 microdeletion syndrome
                        
                    
                        
                        
                        7q31 microdeletion syndrome
                        
                    
                        
                        
                        Midline cerebral malformation
                        
                    
                        
                        
                        8p11.2 deletion syndrome
                        
                    
                        
                        
                        20p12.3 microdeletion syndrome
                        
                    
                        
                        
                        Monosomy 9q22.3
                        
                    
                        
                        
                        9p13 microdeletion syndrome
                        
                    
                        
                        
                        Distal deletion 6p
                        
                    
                        
                        
                        8p23.1 microdeletion syndrome
                        
                    
                        
                        
                        Isolated arhinencephaly
                        
                    
                        
                        
                        Paternal 20q13.2q13.3 microdeletion syndrome
                        
                    
                        
                        
                        19p13.12 microdeletion syndrome
                        
                    
                        
                        
                        6q16 microdeletion syndrome
                        
                    
                        
                        
                        2q24 microdeletion syndrome
                        
                    
                        
                        
                        Distal 7q11.23 microdeletion syndrome
                        
                    
                        
                        
                        3q27.3 microdeletion syndrome
                        
                    
                        
                        
                        9q31.1q31.3 microdeletion syndrome
                        
                    
                        
                        
                        DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
                        
                    
                
            8.66211773070933349.4176901Zentrum für Syndromale Entwicklungsstörungen am Universitätsklinikum Heidelberg
            
        Last updated:
        20.03.2025