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Glossary for Tibial aplasia ectrodactyly

  • Acro-pectoro-renal field defect: A very rare genetic syndrome characterized by abnormalities of the genital and urinary systems as well as the absence of chest muscles at birth.
  • Acrorenal syndrome: A rare lethal syndrome characterized limb anomalies and kidney malformations.
  • Acrorenal syndrome recessive: A rare, recessively inherited disorder characterized by the association of kidney and hand and foot abnormalities.
  • Al Awadi syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis.
  • Al Awadi-Raas-Rothschild syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis. The exact type and severity of symptoms is variable. Most cases appear to occur in cases where the parents were related.
  • Berndorfer syndrome: A rare syndrome characterized mainly by a cleft palate, harelip and cleft hands and feet.
  • 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).
  • EEC syndrome without cleft lip/palate: A rare syndrome characterized mainly by hand, foot deformities as well as hair, skin, nail and tooth abnormalities (ectodermal dysplasia).
  • Ectodermal dysplasia -- ectrodactyly -- macular dystrophy: A rare syndrome characterized mainly by skin, hair, nail and eye abnormalities as well as missing fingers.
  • Finger deformity: Distortion or abnormal appearance of the fingers.
  • Hand conditions: Any condition that affects the hand
  • Holoprosencephaly -- ectrodactyly -- cleft lip/palate: A very rare syndrome characterized mainly by a cleft hand, lip and/or palate and the failure of the brain to separate into two lobes.
  • Hydrops ectrodactyly syndactyly: A very rare disorder characterized mainly be webbed fingers and toes, hand defect and hydrops (abnormal accumulation of fluid in the fetus).
  • Karsch-Neugenbauer syndrome: A rare genetic disorder characterized by a split hand deformity, cataracts and rapid involuntary eye movements.
  • Limb conditions: Medical conditions affecting the upper or lower limbs.
  • Lower leg conditions: Conditions affecting the lower leg, such as the feet, shins, calf, etc.
  • Lower limb conditions: Any medical condition affecting the lower limbs, i.e. the legs, knees, feet, etc..
  • McGillivray syndrome: A very rare syndrome characterized mainly by heart defects, skull and facial abnormalities and ambiguous genitalia.
  • Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.
  • Radio digito -- facial dysplasia: A very rare syndrome characterized mainly by abnormalities of the arm bones and facial anomalies.
  • Split-Hand/Foot Malformation with Long Bone Deficiency 1: A very rare condition characterized by hand and foot malformations involving clefting as well as absent or underdeveloped bones in the limbs. The manifestations of the condition are variable ranging from simply underdeveloped big toes to the absence of various long bones in the limbs. There are three subtypes of this condition which are differentiated by the origin of the genetic defect. In type 1, the genetic defect occurs on chromosome 1q42.2-q43.
  • Split-Hand/Foot Malformation with Long Bone Deficiency 2: A very rare condition characterized by hand and foot malformations involving clefting as well as absent or underdeveloped bones in the limbs. The manifestations of the condition are variable ranging from simply underdeveloped big toes to the absence of various long bones in the limbs. The parents of the affected children appear to be related. There are three subtypes of this condition which are differentiated by the origin of the genetic defect. In type 2, the genetic defect occurs on chromosome 6q14.1.
  • Split-Hand/Foot Malformation with Long Bone Deficiency 3: A very rare condition characterized by hand and foot malformations involving clefting as well as absent or underdeveloped bones in the limbs. The manifestations of the condition are variable ranging from simply underdeveloped big toes to the absence of various long bones in the limbs. The parents of the affected children appear to be related. There are three subtypes of this condition which are differentiated by the origin of the genetic defect. In type 3, the genetic defect occurs on chromosome 17p13.3-p13.1.
  • Trisomy 6 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 6 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
  • Upper limb conditions: Any medical condition affecting the upper limbs, i.e. the arms, elbows, hands, etc.

 

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