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Glossary for Baller-Gerold Syndrome

  • Bone conditions: Conditions that affect the bones
  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Congenital conditions -- physical defects: Congenital (birth) defects causing a physical structure defect (rather than metabolic).
  • Craniosynostosis: A defect involving the fusion of one or more bones in the skull before it has finished growing which affects the head size and shape and can affect the growth of the brain. The defect is often associated with other conditions. Symptoms are determined by which skull bones are prematurely fused.
  • Craniosynostosis radial aplasia syndrome: A rare genetic disorder characterized by premature closing of skull bones, growth deficiency and anal, limb, urogenital and craniofacial abnormalities.
  • Head Conditions: Conditions that affect the head
  • Limb conditions: Medical conditions affecting the upper or lower limbs.
  • Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.
  • Premature fusion of skull bones: Premature fusion of skull bones refers to abnormally early closure of a baby's soft spots in the skull.
  • Rapadilino syndrome: A rare genetic condition characterized primarily by a cleft palate which has a high arch and missing or underdeveloped kneecaps as well as other anomalies.
  • Rothmund-Thomson Syndrome: A syndrome which is characterized by atrophy, pigmentation and telangiectasia of the skin.
  • Thumb deformity: Any malformation or difference in appearance of the thumb. The deformity may result from trauma, a disease process (such as rheumatoid arthritis) or may be an inherited anomaly.
  • Upper limb conditions: Any medical condition affecting the upper limbs, i.e. the arms, elbows, hands, etc.

 

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