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Glossary for Robinow syndrome, autosomal recessive

  • 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).
  • Down-slanting palpebral fissures: Down-slanting palpebral fissures is a term that refers to down-slanting of the space between the eyelids.
  • Dwarfism: Short stature. There are several types of dwarfism: acromelic (short hand and foot bones), mesomelic (short forearm and lower leg bones) and rhizomelic (short upper arm and leg bones).
  • Failure To Thrive: Slow growth or inadequate weight gain of an infant or child.
  • Frontal bossing: Frontal bossing is an abnormally large forehead.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Head Conditions: Conditions that affect the head
  • Jarcho-Levin Syndrome: A rare genetic disorder characterized by spinal column abnormalities, dwarfism and a swollen abdomen as well as other anomalies.
  • Large anterior fontanel: Large anterior fontanel is a condition in which the soft spot located toward front of the skull is bigger than usual.
  • Large head: When a person has a larger than average 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.
  • Prominent eyes: Prominent eyes are unusually large or protruding eyes.
  • Robinow-like syndrome: A very rare syndrome characterized mainly by growth problems before and after birth as well as genital and head anomalies.
  • Sexual Conditions: Any condition that affects sexual function
  • Short stature: A rare syndrome characterized mainly by the association of short stature, Pierre Robin sequence, cleft mandible, hand anomalies and clubfoot.
  • Wide-set eyes: A condition where the eyes are wider apart than normal.

 

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