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Glossary for Buttiens-Fryns 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).
  • Ectrodactyly -- Ectodermal Dysplasia -- Cleft Lip/Palate Syndrome, Type 1: EEC (Ectrodactyly, ectodermal dysplasia, cleft lip/palate) is a rare inherited condition characterized by split hand and foot deformities of variable severity, cleft lip or palate and teeth and hair anomalies. There are two main types of EEC which differ in the origin of the genetic defect. Type 1 is caused by a defect on chromosome 7q11. The severity and type of symptoms and deformities is highly variable.
  • Ectrodactyly -- Ectodermal Dysplasia -- Cleft Lip/Palate Syndrome, Type 3: EEC (Ectrodactyly, ectodermal dysplasia, cleft lip/palate) is a rare inherited condition characterized by split hand and foot deformities of variable severity, cleft lip or palate and teeth and hair anomalies. There are two main types of EEC which differ in the origin of the genetic defect. Type 3 is caused by a defect on chromosome 3q27. The severity and type of symptoms and deformities is highly variable.
  • Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate: A rare inherited syndrome characterized by the EEC syndrome without and oral clefting. The EED syndrome involves a hand deformity (ectrodactyly) and abnormalities of the hair, eyes and skin. The severity of the deformities is variable.
  • Foot conditions: Any condition that may affect the foot
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Hand conditions: Any condition that affects the hand
  • Head Conditions: Conditions that affect the head
  • Jaw symptoms: Symptoms affecting the jaw
  • Kidney failure: Total failure of the kidneys to filter waste
  • Limb conditions: Medical conditions affecting the upper or lower limbs.
  • Limb deficiencies distal micrognathia: A rare genetic disorder characterized by a small jaw, small mouth and defects involving the hands and feet.
  • Lower limb conditions: Any medical condition affecting the lower limbs, i.e. the legs, knees, feet, etc..
  • Mental retardation: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
  • Mouth conditions: Any condition that affects the mouth
  • Mouth symptoms: Symptoms of the mouth or oral area.
  • Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.
  • Myopia: Short-sightedness often requiring glasses
  • Recessed jaw: Recessed jaw refers to a jaw that is sunken or set back into the face.
  • Sulphasalazine -- Teratogenic Agent: There is evidence to indicate that exposure to Sulphasalazine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Upper limb conditions: Any medical condition affecting the upper limbs, i.e. the arms, elbows, hands, etc.

 

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