SE-ATLAS

Mapping of Health Care Providers
for People with Rare Diseases

Zentrum für Syndromale Entwicklungsstörungen am Universitätsklinikum Heidelberg

Description of facility

Director / Spokesperson
Prof. Dr. med. Christian Schaaf
Information
Care facility for children
Description
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

Address

Im Neuenheimer Feld 430
69120 Heidelberg

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Languages

Germany.png Deutsch
United_Kingdom.png 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