SE-ATLAS

Mapping of Health Care Providers
for People with Rare Diseases

Zentrum für Skelettentwicklungsstörungen am Universitätsklinikum Freiburg

Description of facility

Director / Spokesperson
PD Dr. Ekkehart Lausch
Information
Care facility for adults and children
Description
Das Zentrum für Skelettentwicklungsstörungen Freiburg bietet spezialisierte Diagnostik und interdisziplinäre Behandlung für Patienten mit seltenen angeborenen Erkrankungen des Knorpels, des Knochens und des Bewegungsapparats an. Molekulare Diagnostik und Therapieverfahren sind auf höchstem wissenschaftlichem Niveau. Oft erfolgt eine medikamentöse Behandlung im Rahmen multizentrischer klinischer Studien. Als Sektion steht dem Zentrum für Skelettentwicklungsstörungen die Infrastruktur des Departments für Kinder- und Jugendmedizin und des gesamten Universitätsklinikums zu Verfügung. Neben dem klinischen Bereich gehört zum Zentrum für Skelettentwicklungsstörungen auch ein molekulares Diagnostiklabor, das als eines der wenigen Labore in Deutschland als europäisches Referenzlabor für Kliniken aus dem In- und Ausland fungiert. Die interdisziplinäre Patientenversorgung umfasst sowohl den ambulanten wie auch den stationären Bereich.

Das Zentrum für Skelettentwicklungsstörungen ist ein integriertes B-Zentrum und übernimmt für pädiatrische Patienten mit seltenen Erkrankungen die Lotsenfunktionen des A-Zentrums zur optimierten Patientenzuweisung und Patientenrekrutierung.

Consultation hours

Mo - Fr 8:00 - 16:30 Uhr nach Vereinbarung.

Care provisions

This facility offers the following
  • Participation in registries
  • Social / legal advice
  • Genetic counselling
  • Clinical studies / research
  • Diagnostic
  • Therapy
  • Contact person for patients with an unclear diagnosis

Contact

PD Dr. Ekkehart Lausch
0761 27043630
ekkehart.lausch@uniklinik-freiburg.de
Website https://www.uniklinik-freiburg.de/paed-allgemein/schwerpunkte/sektion-paediatrische-genetik.html

Address

Mathildenstraße 1
79106 Freiburg

Calculate route

Languages

Germany.png Deutsch
United_Kingdom.png Englisch
France.png Französisch

European Reference Network 1

Preview of the assigned diseases 3

Familial scaphocephaly syndrome, McGillivray type Cole-Carpenter syndrome Achondroplasia Metaphyseal anadysplasia Acrofacial dysostosis, Kennedy-Teebi type Acromesomelic dysplasia, Maroteaux type Albers-Schönberg osteopetrosis Dyssegmental dysplasia, Rolland-Desbuquois type Schneckenbecken dysplasia Crouzon syndrome-acanthosis nigricans syndrome Acrodysostosis with multiple hormone resistance Short rib-polydactyly syndrome, Majewski type Short rib-polydactyly syndrome, Beemer-Langer type Short rib-polydactyly syndrome, Verma-Naumoff type Short rib-polydactyly syndrome, Saldino-Noonan type Thanatophoric dysplasia type 2 Polyostotic fibrous dysplasia Spondyloepiphyseal dysplasia, Kimberley type Spondyloepimetaphyseal dysplasia, PAPSS2 type X-linked mandibulofacial dysostosis Spondylocamptodactyly syndrome Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome Spondyloepimetaphyseal dysplasia, Geneviève type Craniosynostosis, Boston type Rhizomelic chondrodysplasia punctata type 1 Rhizomelic chondrodysplasia punctata type 2 Rhizomelic chondrodysplasia punctata type 3 McCune-Albright syndrome Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type Mesomelic dwarfism-cleft palate-camptodactyly syndrome Metatropic dysplasia Mandibulofacial dysostosis with alopecia Spondylometaphyseal dysplasia, Golden type Spondylometaphyseal dysplasia, A4 type Hypochondrogenesis Multiple epiphyseal dysplasia due to collagen 9 anomaly Achondrogenesis type 2 Achondrogenesis type 1A Achondrogenesis type 1B Multiple epiphyseal dysplasia, Beighton type Multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 1 Multiple epiphyseal dysplasia type 5 Spondylometaphyseal dysplasia, 'corner fracture' type Multiple epiphyseal dysplasia, Lowry type Spondylometaphyseal dysplasia, Kozlowski type Spondylometaphyseal dysplasia, Schmidt type Stüve-Wiedemann syndrome Progressive pseudorheumatoid arthropathy of childhood Multiple epiphyseal dysplasia, Al-Gazali type Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia Autosomal recessive omodysplasia Autosomal dominant omodysplasia Anauxetic dysplasia Spondyloepimetaphyseal dysplasia congenita, Strudwick type X-linked spondyloepimetaphyseal dysplasia Multiple synostoses syndrome Atelosteogenesis type I Spondyloepimetaphyseal dysplasia, Irapa type Spondyloepimetaphyseal dysplasia, Shohat type SPONASTRIME dysplasia Spondyloepimetaphyseal dysplasia, Missouri type Metaphyseal chondrodysplasia, Schmid type Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome Cartilage-hair hypoplasia Platyspondylic dysplasia, Torrance type Rhizomelic chondrodysplasia punctata Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type Smith-McCort dysplasia Mesomelic dysplasia, Savarirayan type Astley-Kendall dysplasia Pseudodiastrophic dysplasia Intermediate osteopetrosis Metaphyseal dysplasia, Braun-Tinschert type Singleton-Merten dysplasia Baller-Gerold syndrome Genochondromatosis type 1 Crouzon syndrome Osteopetrosis-hypogammaglobulinemia syndrome Metaphyseal acroscyphodysplasia Isolated osteopoikilosis Thoracolaryngopelvic dysplasia Mandibulofacial dysostosis Ollier disease X-linked dominant chondrodysplasia punctata Odontochondrodysplasia Desbuquois syndrome Greenberg dysplasia Otospondylomegaepiphyseal dysplasia Hypochondroplasia Cleidorhizomelic syndrome Enlarged parietal foramina Diastrophic dysplasia Craniolenticulosutural dysplasia Osteogenesis imperfecta Autosomal recessive malignant osteopetrosis Auriculocondylar syndrome Complex lethal osteochondrodysplasia Omodysplasia Dysplasia of head of femur, Meyer type Osteomesopyknosis Osteopetrosis and related disorders Autosomal dominant osteopetrosis type 1 Osteopetrosis with renal tubular acidosis Endosteal hyperostosis, Worth type Pseudoachondroplasia Osteogenesis imperfecta type 3 Dysosteosclerosis Acrofacial dysostosis, Catania type Hypomandibular faciocranial dysostosis Osteogenesis imperfecta type 5 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome Thanatophoric dysplasia type 1 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome Dyssegmental dysplasia, Silverman-Handmaker type Spondyloepiphyseal dysplasia, Reardon type Spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia, MacDermot type Spondyloepimetaphyseal dysplasia, aggrecan type Treacher-Collins syndrome Spondyloepiphyseal dysplasia congenita Achondrogenesis Mucopolysaccharidosis type 2, attenuated form Mucopolysaccharidosis type 4A Mucopolysaccharidosis type 4B Sclerosteosis Monostotic fibrous dysplasia Isolated sternocostoclavicular hyperostosis X-linked calvarial hyperostosis Maxillonasal dysplasia Primary basilar invagination Dyggve-Melchior-Clausen disease Léri-Weill dyschondrosteosis Nager syndrome Postaxial acrofacial dysostosis Fibrous dysplasia of bone Multiple epiphyseal dysplasia Chondrodysplasia punctata Weismann-Netter syndrome Non-syndromic sagittal craniosynostosis Non-syndromic bicoronal craniosynostosis Ellis Van Creveld syndrome Non-syndromic metopic craniosynostosis Isolated cloverleaf skull syndrome Metaphyseal chondrodysplasia, Jansen type Spondyloepiphyseal dysplasia, Stanescu type Camurati-Engelmann disease Frontorhiny Spondyloepimetaphyseal dysplasia, Handigodu type Spondyloepiphyseal dysplasia, Maroteaux type Multiple osteochondromas Metachondromatosis Metaphyseal chondrodysplasia, Spahr type Spondyloepiphyseal dysplasia with metatarsal shortening Jeune syndrome Brachytelephalangic chondrodysplasia punctata Craniometaphyseal dysplasia Chondrodysplasia punctata, Toriello type Chondrodysplasia punctata, tibial-metacarpal type Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome Craniosynostosis Osteogenesis imperfecta type 1 Osteogenesis imperfecta type 2 Osteogenesis imperfecta type 4 Acrofrontofacionasal dysostosis Pycnodysostosis Acrofacial dysostosis, Palagonia type Acrofacial dysostosis, Rodríguez type Frontofacionasal dysplasia Blomstrand lethal chondrodysplasia Oculomaxillofacial dysostosis Dysostosis, Stanescu type Schwartz-Jampel syndrome Schimke immuno-osseous dysplasia Mesomelic dysplasia, Kantaputra type Maffucci syndrome Spondyloenchondrodysplasia Acrodysostosis Acrofacial dysostosis, Weyers type Pyknoachondrogenesis Pyle disease Acromesomelic dysplasia, Hunter-Thompson type Acromicric dysplasia Isolated oxycephaly Fibrochondrogenesis Atelosteogenesis type II Atelosteogenesis type III Hurler syndrome Scheie syndrome Hurler-Scheie syndrome Hyperostosis corticalis generalisata Mucopolysaccharidosis Greig cephalopolysyndactyly syndrome Sanfilippo syndrome type A Sanfilippo syndrome type C Sanfilippo syndrome type B Sanfilippo syndrome type D Melorheostosis Mazabraud syndrome Hyaluronidase deficiency Craniodiaphyseal dysplasia Craniofrontonasal dysplasia Craniosynostosis-dental anomalies Morgagni-Stewart-Morel syndrome Craniosynostosis, Philadelphia type Solitary bone cyst Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 4 Langer mesomelic dysplasia Mucopolysaccharidosis type 3 Mucopolysaccharidosis type 6 Mucopolysaccharidosis type 7 Hyperostosis cranialis interna Craniosynostosis-intracranial calcifications syndrome Medial condensing osteitis of the clavicle Mucopolysaccharidosis type 2, severe form X-linked dominant chondrodysplasia, Chassaing-Lacombe type Summitt syndrome Metaphyseal chondrodysplasia, Kaitila type Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type Genochondromatosis type 2 Aneurysmal bone cyst Upington disease Wildervanck syndrome Gnathodiaphyseal dysplasia Bruck syndrome Rhizomelic chondrodysplasia punctata type 5 Kyphomelic dysplasia Osteosclerotic metaphyseal dysplasia Short rib-polydactyly syndrome type 5 Acrocapitofemoral dysplasia SIX2-related frontonasal dysplasia

Provided care options 3

# Contact person
1
Sprechstunde für Wachstumsstörungen, genetisch bedingte Endokrinopathien und Therapiezentrum Achondroplasie
Dr. F. Hodde

0761 27043630
Email
Sprechzeiten nach Vereinbarung.

2
Sprechstunde für Ziliopathien
Dr. M. Schmidts

0761 27043630
Email
Sprechzeiten nach Vereinbarung.

3
Sprechstunde für Skelettentwicklungsstörungen und angeborene Erkrankungen des Bewegungsapparates
PD Dr. E. Lausch

0761 27043630
Email
Sprechzeiten nach Vereinbarung.

7.84373939037323148.00385693207722Zentrum für Skelettentwicklungsstörungen am Universitätsklinikum Freiburg
Last updated: 16.01.2024