Different Syndrome of Bone and Joint Disease; Here are different syndromes of bone and joint with their typical clinical presentation. Syndromes are not common but still they are present. So as a clinician it is must to diagnose syndrome.
Different Syndrome of Bone and Joint Disease
SYNDROME | FEATURE |
CROUZON SYNDROME/CRANIOFACIAL DYSOSTOSIS | Parrot beak appearance Hypertelorism Prognathic mandible Hypoplastic maxilla |
APERT SYNDROME | Mitten hands and sock feet appearance(syndactyly involving hands and feet) |
TREACHER-COLLINS SYNDROME/MANDIBULOFACIAL DYSOSTOSIS/FRANSCHETTI SYNDROME | Hypoplasia of mandible Hypoplasia of Malar bone Macrostomia Formation of external ear Bird or fish like face Antimongoloid eyes Coloboma of lower eyelid |
PIERRE ROBIN SYNDROME | Cleft palate Micrognathia Glossoptosis |
DOWN SYNDROME | Hypermobility Macroglossia Flat face Large anterior fontanelle Sexual underdevelopment Cardiac abnormalities |
VAN BUCHEM SYNDROME | Generalized cortical hyperostosis |
COSTEN SYNDROME | Tinnitus Otalgia Headache Dizziness Burning tongue and throat |
MCCUNE ALBRIGHT SYNDROME | Polyostotics fibrous dysplasia Cafe-au-lait pigmentation Endocrine disorders |
CAFFEY- SILVERMAN SYNDROME | Infantile hyperostosis Dysphagia Hyper irritability Increased Alkaline phosphatase |
GORHAM SYNDROME | Massive osteolysis or vanishing bone |
MYOFASCIAL PAIN DYSFUNCTION SYNDROME | Masticatory muscle tenderness Limited mouth opening Clicking or popping sound Pain |
MARFAN SYNDROME | Long thin extremities Hyperextensibility of joints Spidery fingers Arachnodactyly Bifid uvula CVS complications |

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