Zentrum für Syndromale Entwicklungsstörungen am Universitätsklinikum Heidelberg
Description of facility
Director / Spokesperson
Prof. Dr. med. Christian SchaafInformation
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 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:
27.02.2023