Different Syndrome of Bone and Joint Disease

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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

SYNDROMEFEATURE
CROUZON SYNDROME/CRANIOFACIAL DYSOSTOSISParrot beak appearance
Hypertelorism 
Prognathic mandible 
Hypoplastic maxilla
APERT SYNDROMEMitten hands and sock feet appearance(syndactyly involving hands and feet) 
TREACHER-COLLINS SYNDROME/MANDIBULOFACIAL DYSOSTOSIS/FRANSCHETTI SYNDROMEHypoplasia of mandible
Hypoplasia of Malar bone 
Macrostomia 
Formation of external ear 
Bird or fish like face 
Antimongoloid  eyes 
Coloboma of lower eyelid
PIERRE ROBIN SYNDROMECleft palate 
Micrognathia 
Glossoptosis
DOWN SYNDROMEHypermobility 
Macroglossia 
Flat face 
Large anterior fontanelle 
Sexual underdevelopment 
Cardiac abnormalities
VAN BUCHEM SYNDROMEGeneralized cortical hyperostosis
COSTEN SYNDROMETinnitus
Otalgia 
Headache 
Dizziness 
Burning tongue and throat
MCCUNE ALBRIGHT SYNDROMEPolyostotics fibrous dysplasia
Cafe-au-lait  pigmentation
Endocrine disorders
CAFFEY- SILVERMAN SYNDROMEInfantile hyperostosis 
Dysphagia 
Hyper irritability 
Increased Alkaline phosphatase
GORHAM SYNDROMEMassive osteolysis or vanishing bone
MYOFASCIAL PAIN DYSFUNCTION SYNDROMEMasticatory muscle tenderness 
Limited mouth opening 
Clicking or popping sound Pain
MARFAN SYNDROMELong thin extremities 
Hyperextensibility of joints 
Spidery fingers 
Arachnodactyly 
Bifid uvula
CVS complications 
syndrome-of-bone-and-joint

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