Syndromes related to Diseases of bones and Joints.

Here is a list of Syndromes related to Diseases of Bones and Joints.

Crouzon Syndrome (or) Craniofacial Dysostosis:

• Prognathic mandible
• Hypoplastic maxilla
• High arched palate
• Parrot beak appearance
• Hypertelorism

Apert Syndrome:

• Syndactyly involving hands and feet – mitten hands and soc feet
• It has many features similar to Crouzon syndrome

Treacher Collins Syndrome or Mandibulofacial Dysostosis:

• Hypoplasia of mandible and malar bone
• Macrostomia
• High arched palate
• Malformation of external ear
• Bird or fish like face
• Antimongoloid slant with coloboma of lower eyelids

Pierre Robin Syndrome:

• Cleft Palate
• Micrognathia
• Glossoptosis

Marfan Syndrome:

• Bifid Uvula
• Long thin extremities
• hyper extensibility of joints
• Spidery fingers
• Arachnodactyly
• CVS complications

Down’s Syndrome (Trisomy 21)

• Hypermobility
• Macroglossia
• Flat face
• Large anterior frontanelle
• Sexual under development
• Cardiac abnormalities

Van Buchem Syndrome:

• Generalised cortical hyperostosis

Gorham Syndrome:

•  Massive Osteolysis
• Vanishing bone

Albright Syndrome:

• Precocious puberty
• Polystotic fibrous dysplasia
• Cafe-au-lait pigmentation

Caffey Silverman Syndrome:

• Infantile hyperostosis
• Dysphagia
• Hyperirritability
• Increased alkaline phosphatase

Costen Syndrome:

• Burning tongue
• Tinnitus
• Otalgia
• Headache
• Diziness

Myofacial Pain Dysfunction Syndrome:

• Masticatory muscle tenderness
• Limitation of motion
• Clicking or propping noise