se-atlas

Mapping of Health Care Providers
for People with Rare Diseases

Zentrum für Skelettsystemerkrankungen und syndromale Kleinwuchsformen am Universitätsklinikum Magdeburg

Decription of facility

Director / Spokesperson
Prof. Dr. B. Zabel
Information
Care facility for adults and children
Decription

Seltene Erkrankungen sind oft genetisch bedingt, so dass im Regelfall die Beschwerden schon im Kindesalter beginnen. Dies trifft jedoch nicht auf alle seltenen Erkrankungen zu. Die Vielzahl von möglichen Ursachen und teilweise sehr unspezifische Symptome führen dazu, dass die Diagnose häufig erst nach Jahren gestellt und inzwischen verfügbare, wirksame Therapien nicht oder verspätet angewandt werden.
Die Mitarbeiter des Kompetenznetzes Seltene Erkrankungen, bündeln die Kompetenz zahlreicher Spezialisten aus der Region auch in ständiger Kommunikation mit Ärzten und Wissenschaftlern aus anderen Teilen Deutschlands und der Welt. Gemeinsam mit der gesundheitlichen Selbsthilfe von Betroffenen und ihren Familien wird beraten.

Consultation hours

Special consultation hours:
Di - Fr. 8.00 - 12.00 Mi, Do 13.30 - 16.00

Care provisions

This facility offers the following
  • Genetic counselling
  • Clinical studies / research
  • Diagnostic
  • Therapy
  • Contact person for patients with an unclear diagnosis
    Prof. Dr. B. Zabel, Prof. Dr. M. Zenker, Prof. Dr. K. Mohnike
  • Contact with support groups
    Bundesverband Kleinwüchsige Menschen und ihre Familien e. V. (BKMF e.V.)

Contact

Prof. Dr. K. Mohnike und Dr. Katja Ziegenhorn
0391 6724044
klaus.mohnike@med.ovgu.de
Website

http://www.mkse.ovgu.de/Fachzentren.html

Address

Leipziger Str. 44
39120 Magdeburg

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Languages

Germany.png Deutsch
United_Kingdom.png Englisch

European Reference Network 1

Preview of the assigned diseases 3

Spondyloepiphyseal dysplasia, Maroteaux type Congenital bowing of long bones Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome Microcephalic primordial dwarfism due to ZNF335 deficiency Fibrochondrogenesis Atelosteogenesis type II Robinow syndrome Short rib-polydactyly syndrome, Majewski type Fibrous dysplasia of bone Atelosteogenesis type III Terminal osseous dysplasia-pigmentary defects syndrome Spondyloepiphyseal dysplasia, Nishimura type Short rib-polydactyly syndrome, Beemer-Langer type Achondrogenesis Microcephalic primordial dwarfism, Dauber type Auriculoosteodysplasia Spondylometaphyseal dysplasia, A4 type Stickler syndrome type 3 Short rib-polydactyly syndrome, Verma-Naumoff type Multiple epiphyseal dysplasia Short rib-polydactyly syndrome, Saldino-Noonan type Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia Autosomal recessive cutis laxa type 2A Spondyloepimetaphyseal dysplasia, Isidor type Spondylometaphyseal dysplasia Schwartz-Jampel syndrome Familial hypocalciuric hypercalcemia type 2 Juvenile hyaline fibromatosis Oculodentodigital dysplasia Multiple non-ossifying fibromatosis Childhood-onset hypophosphatasia Thanatophoric dysplasia type 2 Osteogenesis imperfecta Monostotic fibrous dysplasia X-linked dominant chondrodysplasia punctata Autosomal recessive malignant osteopetrosis Polyostotic fibrous dysplasia Familial hypocalciuric hypercalcemia type 3 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis Ossification anomalies-psychomotor developmental delay syndrome Spondyloepiphyseal dysplasia, Cantu type Kein Name gefunden Seckel syndrome Spondyloepiphyseal dysplasia, Kimberley type Adult hypophosphatasia Spondyloepiphyseal dysplasia tarda Spondyloepimetaphyseal dysplasia, PAPSS2 type Dyschondrosteosis-nephritis syndrome Osteopetrosis-hypogammaglobulinemia syndrome Rare bone disease Spondylometaphyseal dysplasia, Czarny-Ratajczak type Shwachman-Diamond syndrome Spondyloepiphyseal dysplasia tarda, Kohn type Reunion Island Larsen syndrome Infantile systemic hyalinosis Silver-Russell syndrome Spondyloepiphyseal dysplasia, Reardon type Autosomal recessive cutis laxa type 2B Acrodysostosis Familial hypocalciuric hypercalcemia Isolated osteopoikilosis Ciliopathies with major skeletal involvement Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome Mandibuloacral dysplasia with type A lipodystrophy Upington disease Autosomal recessive cutis laxa type 2, classic type Primary hypertrophic osteoarthropathy Odontohypophosphatasia SHOX-related short stature Eiken syndrome Acroosteolysis dominant type Mandibuloacral dysplasia with type B lipodystrophy Spondyloepiphyseal dysplasia, MacDermot type Spondylocarpotarsal synostosis Joubert syndrome with Jeune asphyxiating thoracic dystrophy Mandibuloacral dysplasia Enlarged parietal foramina Pyknoachondrogenesis Multiple epiphyseal dysplasia and pseudoachondroplasia CHILD syndrome Multiple metaphyseal dysplasia Short stature, Brussels type Spondyloepimetaphyseal dysplasia, Bieganski type Achondrogenesis type 2 Campomelic dysplasia Hypocalcemic vitamin D-resistant rickets Cole-Carpenter syndrome Pyle disease Short rib-polydactyly syndrome Omodysplasia Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome Osteopenia-intellectual disability-sparse hair syndrome Achondrogenesis type 1B Thin ribs-tubular bones-dysmorphism syndrome Hyperostosis corticalis generalisata Leukocyte adhesion deficiency type III Autosomal recessive Robinow syndrome Hypochondrogenesis Silver-Russell syndrome due to a point mutation Schneckenbecken dysplasia Spondylodysplastic dysplasia Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome TMEM165-CDG Coxoauricular syndrome Neonatal severe primary hyperparathyroidism Brachyolmia type 1, Hobaek type Acromesomelic dysplasia Microcephalic primordial dwarfism Achondrogenesis type 1A Dysosteosclerosis Acromelic dysplasia Stickler syndrome Campomelic dysplasia and related disorders Brachyolmia type 1, Toledo type Mesomelic and rhizo-mesomelic dysplasia Spondyloepimetaphyseal dysplasia, aggrecan type Brachyolmia, Maroteaux type Hypocalcemic vitamin D-dependent rickets Primary bone dysplasia with multiple joint dislocations Metaphyseal acroscyphodysplasia Slender bone dysplasia Craniodiaphyseal dysplasia Odontochondrodysplasia Spondyloepimetaphyseal dysplasia, Geneviève type Acromesomelic dysplasia, Hunter-Thompson type Autosomal dominant brachyolmia FGFR2-related bent bone dysplasia Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia Neonatal osteosclerotic dysplasia Acromicric dysplasia Kenny-Caffey syndrome Marshall syndrome Multiple epiphyseal dysplasia type 4 Cranioectodermal dysplasia Achondroplasia Nestor-Guillermo progeria syndrome Sclerosteosis Dyssegmental dysplasia, Rolland-Desbuquois type Chondrodysplasia punctata Ellis Van Creveld syndrome Multiple epiphyseal dysplasia due to collagen 9 anomaly McCune-Albright syndrome Primary bone dysplasia with decreased bone density Spondyloepimetaphyseal dysplasia, matrilin-3 type Multiple epiphyseal dysplasia type 1 Primary bone dysplasia with increased bone density X-linked calvarial hyperostosis Multiple epiphyseal dysplasia type 5 Opsismodysplasia Ramon syndrome Angel-shaped phalango-epiphyseal dysplasia Hypochondroplasia Primary bone dysplasia with defective bone mineralization Trichorhinophalangeal syndrome Primary bone dysplasia with disorganized development of skeletal components Craniometaphyseal dysplasia Dysplastic cortical hyperostosis Primary osteolysis Peripheral dysostosis Autosomal recessive hypophosphatemic rickets Spondylometaphyseal dysplasia, 'corner fracture' type Spondylometaphyseal dysplasia, Schmidt type Enchondromatosis Spondylometaphyseal dysplasia, Kozlowski type Acrocapitofemoral dysplasia Cleidocranial dysplasia and isolated cranial ossification defect 3M syndrome Autosomal recessive Stickler syndrome Cranio-osteoarthropathy Dysostosis, Stanescu type Chondrodysplasia with joint dislocations, gPAPP type Orofaciodigital syndrome type 4 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Multiple epiphyseal dysplasia, Beighton type Spondylometaphyseal dysplasia, Sedaghatian type Ehlers-Danlos syndrome, spondylocheirodysplastic type Hypophosphatasia X-linked osteoporosis with fractures Brachydactylous dwarfism, Mseleni type Hypophosphatemic rickets Kyphomelic dysplasia Lethal Kniest-like dysplasia Dominant hypophosphatemia with nephrolithiasis or osteoporosis Ghosal hematodiaphyseal dysplasia Melnick-Needles syndrome Thoracomelic dysplasia Melorheostosis Multiple epiphyseal dysplasia, Lowry type Wolcott-Rallison syndrome Mixed sclerosing bone dystrophy with extra-skeletal manifestations Autosomal recessive Kenny-Caffey syndrome Geleophysic dysplasia Larsen-like syndrome, B3GAT3 type Geroderma osteodysplastica Delayed membranous cranial ossification Progressive osseous heteroplasia Autosomal dominant Kenny-Caffey syndrome Brachyolmia-amelogenesis imperfecta syndrome Osteocraniostenosis Autosomal dominant omodysplasia Boomerang dysplasia Lethal chondrodysplasia Osteosclerosis-ichthyosis-premature ovarian failure syndrome Metaphyseal chondrodysplasia, Schmid type Multicentric osteolysis-nodulosis-arthropathy spectrum Multiple epiphyseal dysplasia, Al-Gazali type Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type Cartilage-hair hypoplasia Autosomal recessive omodysplasia Carpotarsal osteochondromatosis Roifman syndrome Mesomelic dwarfism-cleft palate-camptodactyly syndrome Non-rhizomelic chondrodysplasia punctata Acromesomelic dysplasia, Maroteaux type Weissenbacher- Zweymuller syndrome Blount disease Intellectual disability-balding-patella luxation-acromicria syndrome Langer mesomelic dysplasia Rhizomelic chondrodysplasia punctata Mesomelia-synostoses syndrome Mesomelic dysplasia, Nievergelt type Upper limb mesomelic dysplasia Nasu-Hakola disease Mesomelic dwarfism, Reinhardt-Pfeiffer type Pacman dysplasia Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia Spondylocamptodactyly syndrome Dysplasia of head of femur, Meyer type Bruck syndrome Metatropic dysplasia Thoracolaryngopelvic dysplasia Metachondromatosis Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome Chondroectodermal dysplasia with night blindness Microcephalic osteodysplastic primordial dwarfism types I and III Brachydactyly-short stature-retinitis pigmentosa syndrome Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome Microcephalic osteodysplastic primordial dwarfism type II Multiple epiphyseal dysplasia, with miniepiphyses Metaphyseal chondrodysplasia, Spahr type Multicentric carpo-tarsal osteolysis with or without nephropathy Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome Fibular aplasia-complex brachydactyly syndrome Cherubism Multiple osteochondromas Autosomal recessive distal osteolysis syndrome Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Dysplasia epiphysealis hemimelica Osteomesopyknosis Kein Name gefunden Torg-Winchester syndrome Lowry-Wood syndrome Grant syndrome Osteopathia striata-pigmentary dermopathy-white forelock syndrome Larsen-like osseous dysplasia-short stature syndrome High bone mass osteogenesis imperfecta Metaphyseal chondrodysplasia, Kaitila type Microcephalic primordial dwarfism, Toriello type Acromesomelic dysplasia, Grebe type Osteopathia striata-cranial sclerosis syndrome Lethal Larsen-like syndrome Exostoses-anetodermia-brachydactyly type E syndrome X-linked hypophosphatemia Frontometaphyseal dysplasia Albers-Schönberg osteopetrosis Osteopetrosis and related disorders Osteoglosphonic dysplasia Anauxetic dysplasia Parastremmatic dwarfism Desmosterolosis Autosomal dominant osteopetrosis type 1 Spondyloepimetaphyseal dysplasia congenita, Strudwick type Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Autosomal dominant hypophosphatemic rickets Kein Name gefunden Platyspondylic dysplasia, Torrance type Schimke immuno-osseous dysplasia Kein Name gefunden Osteopetrosis with renal tubular acidosis Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Chondrodysplasia-disorder of sex development syndrome Hutchinson-Gilford progeria syndrome X-linked spondyloepimetaphyseal dysplasia Osteoporosis-oculocutaneous hypopigmentation syndrome Lethal osteosclerotic bone dysplasia Craniofacial conodysplasia Lethal recessive chondrodysplasia Spondyloepimetaphyseal dysplasia, Shohat type Phalangeal microgeodic syndrome Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome Trichorhinophalangeal syndrome type 1 and 3 Autosomal recessive cutis laxa type 2 Czech dysplasia, metatarsal type Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome Parietal foramina with clavicular hypoplasia Spondyloepimetaphyseal dysplasia, Irapa type Osteoporosis-pseudoglioma syndrome Metaphyseal chondrodysplasia, Jansen type Mesomelic dysplasia, Savarirayan type Desbuquois syndrome Lateral meningocele syndrome Dacryocystitis-osteopoikilosis syndrome Hallermann-Streiff syndrome Greenberg dysplasia Endosteal hyperostosis, Worth type Yunis-Varon syndrome Mesomelic dysplasia, Kantaputra type Microcephalic osteodysplastic dysplasia, Saul-Wilson type Otospondylomegaepiphyseal dysplasia IMAGe syndrome Thanatophoric dysplasia Spondyloepimetaphyseal dysplasia, Missouri type Ulna metaphyseal dysplasia syndrome Fibrodysplasia ossificans progressiva Jeune syndrome Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome Brachyolmia Astley-Kendall dysplasia Madelung deformity, unilateral SPONASTRIME dysplasia Intermediate osteopetrosis Lenz-Majewski hyperostotic dwarfism Spondylo-megaepiphyseal-metaphyseal dysplasia Pseudodiastrophic dysplasia Spondyloepimetaphyseal dysplasia with multiple dislocations Progressive pseudorheumatoid arthropathy of childhood Madelung deformity, bilateral Pseudoachondroplasia Hip dysplasia, Beukes type Spondyloepimetaphyseal dysplasia with joint laxity Pachydermoperiostosis Bone dysplasia, lethal Holmgren type Stüve-Wiedemann syndrome Infantile osteopetrosis with neuroaxonal dysplasia Perinatal lethal hypophosphatasia Blomstrand lethal chondrodysplasia Weismann-Netter syndrome Kein Name gefunden Osteogenesis imperfecta type 1 Talo-patello-scaphoid osteolysis X-linked skeletal dysplasia-intellectual disability syndrome Pancreatic insufficiency-anemia-hyperostosis syndrome Ehlers-Danlos syndrome, progeroid type Juvenile Paget disease Lipodystrophy-intellectual disability-deafness syndrome Saldino-Mainzer syndrome Diaphyseal medullary stenosis-bone malignancy syndrome Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Kniest dysplasia Craniometadiaphyseal dysplasia, wormian bone type Spondyloepimetaphyseal dysplasia, Handigodu type Diaphanospondylodysostosis Buschke-Ollendorff syndrome Frank-Ter Haar syndrome Dappled diaphyseal dysplasia Tricho-dento-osseous syndrome Endosteal sclerosis-cerebellar hypoplasia syndrome Cheirospondyloenchondromatosis Pycnodysostosis Metaphyseal dysplasia, Braun-Tinschert type Osteogenesis imperfecta type 2 Familial hypocalciuric hypercalcemia type 1 Spondyloenchondrodysplasia Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Diastrophic dwarfism Caffey disease Spondyloperipheral dysplasia-short ulna syndrome Calvarial doughnut lesions-bone fragility syndrome Singleton-Merten dysplasia Spondylo-ocular syndrome Spastic paraplegia-Paget disease of bone syndrome Metaphyseal anadysplasia Primary bone dysplasia Hypocalcemic rickets Idiopathic juvenile osteoporosis Ehlers-Danlos/osteogenesis imperfecta syndrome Silver-Russell syndrome due to 7p11.2p13 microduplication Thanatophoric dysplasia type 1 Nodulosis-arthropathy-osteolysis syndrome Otopalatodigital syndrome type 2 Otopalatodigital syndrome type 1 Familial expansile osteolysis Cleidocranial dysplasia Prenatal benign hypophosphatasia Dysspondyloenchondromatosis 12q14 microdeletion syndrome Stickler syndrome type 2 Brachydactyly type A6 Cleidorhizomelic syndrome Disorders of vitamin D metabolism Mazabraud syndrome Osteogenesis imperfecta type 3 Genochondromatosis type 1 Stickler syndrome type 1 Madelung deformity Campomelia, Cumming type Osteogenesis imperfecta type 4 Dyssegmental dysplasia, Silverman-Handmaker type Craniosynostosis-anal anomalies-porokeratosis syndrome Silver-Russell syndrome due to an imprinting defect of 11p15 Trichorhinophalangeal syndrome type 2 Primary bone dysplasia with micromelia Spondyloepiphyseal dysplasia congenita Autosomal dominant Larsen syndrome CHST3-related skeletal dysplasia Smith-McCort dysplasia Hereditary hypophosphatemic rickets with hypercalciuria Gnathodiaphyseal dysplasia Silver-Russell syndrome due to 11p15 microduplication Rhizomelic syndrome, Urbach type Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments Atelosteogenesis type I Ear-patella-short stature syndrome Osteogenesis imperfecta type 5 Autosomal dominant chondrodysplasia punctata Severe lateral tibial bowing with short stature Richieri Costa-da Silva syndrome Camurati-Engelmann disease Otopalatodigital syndrome spectrum disorder Microcephalic primordial dwarfism, Alazami type Chondrodysplasia punctata, tibial-metacarpal type Infantile hypophosphatasia Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Dyggve-Melchior-Clausen disease Maffucci syndrome Brachytelephalangic chondrodysplasia punctata Spondylometaphyseal dysplasia, Golden type Rhizomelic dysplasia, Patterson-Lowry type Axial spondylometaphyseal dysplasia Léri-Weill dyschondrosteosis Chondrodysplasia punctata, Toriello type Melorheostosis with osteopoikilosis Wrinkly skin syndrome Autosomal dominant Robinow syndrome Genochondromatosis type 2

Provided care options 1

# Contact person
1
Sprechstunde und Diagnoseportal für angeborene Skelettsystemerkrankungen
Prof. Dr. B. Zabel, Prof. Dr. M. Zenker und Prof. Dr. K. Mohnike

0391 6724044
Email
Mo - Fr 08.00 - 12.00 Uhr, Mi und Do 13.30 - 16.00 Uhr nach telefonischer Vereinbarung.
This consultation offers genetic counselling.

11.619722652.1021661Zentrum für Skelettsystemerkrankungen und syndromale Kleinwuchsformen am Universitätsklinikum Magdeburg
Last updated: 19.01.2021