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  • Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called
  • as other types of cancer, as part of Peutz-Jeghers syndrome (described above). These mutations are
  • Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and
  • to Rett syndrome, which is a disorder whose characteristic features include developmental problems
  • eosinophilic leukemia is often grouped with a related condition called hypereosinophilic syndrome. These two
  • Found in name or synonym: palmoplantar keratoderma-hearing loss syndrome
  • keratitis-ichthyosis-deafness syndrome (KID syndrome), a disorder with similar features and the addition of
  • 19p13.13 deletion syndrome is a condition that results from a chromosomal change in which a small
  • Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss. People
  • Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium
  • Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities
  • Oral-facial-digital syndrome is actually a group of related conditions that affect the development
  • Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin. In
  • Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe
  • Related term: Sheldon-Hall syndrome
  • Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in
  • Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft
  • Antiphospholipid syndrome is a disorder characterized by an increased tendency to form abnormal
  • is unclear whether these mutations cause Romano-Ward syndrome or lead to another heart condition with
  • 3-M syndrome is a disorder that causes short stature (dwarfism), unusual facial features, and
  • pregnancies called twin-to-twin transfusion syndrome.
  • or all of these alleles.syndrome, the most severe form of alpha thalassemia, results from
  • Werner syndrome is characterized by the dramatic, rapid appearance of features associated with
  • Sotos syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in
  • Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial
  • Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops
  • Related term: Dravet syndrome
  • syndrome, has hair and skin abnormalities similar to type I but features a different form of cardiomyopathy
  • Congenital deafness with labyrinthine aplasia, microtia, and microdontia (also called LAMM syndrome
  • poor growth and a particular type of kidney damage (renal Fanconi syndrome) in which certain molecules
  • Related term: COL4A1 stroke syndrome
  • or all of these alleles.syndrome, the most severe form of alpha thalassemia, results from
  • At least 11 mutations in the SMAD3 gene have been found to cause Loeys-Dietz syndrome type III
  • Costello syndrome is a disorder that affects many parts of the body. This condition is
  • Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the
  • Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes
  • Barth syndrome is a rare condition characterized by an enlarged and weakened heart (dilated
  • Hennekam syndrome is an inherited disorder resulting from malformation of the lymphatic system
  • Renpenning syndrome is a disorder that almost exclusively affects males, causing developmental
  • RAPADILINO syndrome is a rare condition that involves many parts of the body. Bone development is
  • Rotor syndrome is a relatively mild condition characterized by elevated levels of a substance
  • Brugada syndrome is a condition that causes a disruption of the heart's normal rhythm. Specifically
  • Aicardi syndrome is a disorder that occurs almost exclusively in females. It is characterized by
  • Liddle syndrome is an inherited form of high blood pressure (hypertension). This condition is
  • Feingold syndrome is a disorder that affects many parts of the body. The signs and symptoms of this
  • Kabuki syndrome is a disorder that affects many parts of the body. It is characterized by
  • Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized
  • Char syndrome is a condition that affects the development of the face, heart, and limbs. It is
  • Down syndrome is a chromosomal condition that is associated with intellectual disability, a
  • Emanuel syndrome is a chromosomal disorder that disrupts normal development and affects many parts

Viewing: Health Conditions

  • Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called
  • Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and
  • eosinophilic leukemia is often grouped with a related condition called hypereosinophilic syndrome. These two
  • Found in name or synonym: palmoplantar keratoderma-hearing loss syndrome
  • keratitis-ichthyosis-deafness syndrome (KID syndrome), a disorder with similar features and the addition of
  • 19p13.13 deletion syndrome is a condition that results from a chromosomal change in which a small
  • Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss. People
  • Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium
  • Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities
  • Oral-facial-digital syndrome is actually a group of related conditions that affect the development
  • Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin. In
  • Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe
  • Related term: Sheldon-Hall syndrome
  • Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in
  • Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft
  • Antiphospholipid syndrome is a disorder characterized by an increased tendency to form abnormal
  • 3-M syndrome is a disorder that causes short stature (dwarfism), unusual facial features, and
  • pregnancies called twin-to-twin transfusion syndrome.
  • Werner syndrome is characterized by the dramatic, rapid appearance of features associated with
  • Sotos syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in
  • Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial
  • Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops
  • syndrome, has hair and skin abnormalities similar to type I but features a different form of cardiomyopathy
  • Congenital deafness with labyrinthine aplasia, microtia, and microdontia (also called LAMM syndrome
  • poor growth and a particular type of kidney damage (renal Fanconi syndrome) in which certain molecules
  • Related term: COL4A1 stroke syndrome
  • Costello syndrome is a disorder that affects many parts of the body. This condition is
  • Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the
  • Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes
  • Barth syndrome is a rare condition characterized by an enlarged and weakened heart (dilated
  • Hennekam syndrome is an inherited disorder resulting from malformation of the lymphatic system
  • Renpenning syndrome is a disorder that almost exclusively affects males, causing developmental
  • RAPADILINO syndrome is a rare condition that involves many parts of the body. Bone development is
  • Rotor syndrome is a relatively mild condition characterized by elevated levels of a substance
  • Brugada syndrome is a condition that causes a disruption of the heart's normal rhythm. Specifically
  • Aicardi syndrome is a disorder that occurs almost exclusively in females. It is characterized by
  • Liddle syndrome is an inherited form of high blood pressure (hypertension). This condition is
  • Feingold syndrome is a disorder that affects many parts of the body. The signs and symptoms of this
  • Kabuki syndrome is a disorder that affects many parts of the body. It is characterized by
  • Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized
  • Char syndrome is a condition that affects the development of the face, heart, and limbs. It is
  • Down syndrome is a chromosomal condition that is associated with intellectual disability, a
  • Emanuel syndrome is a chromosomal disorder that disrupts normal development and affects many parts

Viewing: Genes

  • as other types of cancer, as part of Peutz-Jeghers syndrome (described above). These mutations are
  • to Rett syndrome, which is a disorder whose characteristic features include developmental problems
  • is unclear whether these mutations cause Romano-Ward syndrome or lead to another heart condition with
  • or all of these alleles.syndrome, the most severe form of alpha thalassemia, results from
  • Related term: Dravet syndrome
  • or all of these alleles.syndrome, the most severe form of alpha thalassemia, results from
  • At least 11 mutations in the SMAD3 gene have been found to cause Loeys-Dietz syndrome type III