Orthopaedists

Overview of orthopaedic diseases with genetic causes or syndromic diseases with orthopaedic involvement. You can download all information on the gene panels and the latest request form “Molecular genetic diagnostics“. Click the disease you are interested in to get detailed information.

• Achondrogenesis type 1B / 2
• Achondroplasia / hypochondroplasia
• Beckwith-Wiedemann syndrome
• Campomelic dysplasia
• Cleidocranial dysplasia
• Crouzon syndrome/Crouzon syndrome with acanthosis nigricans (craniofacial dysostosis type 1)
• Ehlers-Danlos syndrome
• Familial Mediterranean fever
• Fanconi anemia
• Feingold syndrome type 1 / type 2
• Greig syndrome
• Holt-Oram syndrome
• Hydrolethalus syndrome
• Isolated growth hormone deficiency type IA
• Jackson-Weiss syndrome
• Kniest dysplasia
• Langer-Giedion syndrome
• Laron syndrome
• Larsen syndrome
• Leri-Weill syndrome/ Langer mesomelic dysplasia
• Lowe syndrome
• Marfan syndrome
• Metaphyseal chondrodysplasia, type Schmid
• Muenke syndrome
• Nail-patella syndrome
• Okihiro syndrome (Duane-radial ray syndrome)
• Osteoarthropathy, hypertrophic
• Osteogenesis imperfecta type 1 – 5, autosomal-dominant
• Osteogenesis imperfecta, autosomal-recessive
• Osteopetrosis
• Osteosclerosis
• Otopalatodigital syndrome
• Pfeiffer syndrome (acrocephalosyndactyly syndrome type 5)
• Proteus syndrome
• Roberts syndrome
• Robinow syndrome
• Sanjad-Sakati syndrome
• Spondylocostal dysostosis
• Thanatophoric dysplasia type 1 / 2
• Vitamin D-resistant rickets
• Weaver syndrome