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:

  • ┬áMassive 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

 

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