Tricamy 21 (Down Syndrome)
... •White spots on the colored part of the eye •Smaller head than average •Abnormally shaped head •Never fully reach their average adult height ...
... •White spots on the colored part of the eye •Smaller head than average •Abnormally shaped head •Never fully reach their average adult height ...
Lown-Ganong-Levine Syndrome
... Lown suggested that 17% of people with a PR interval of less than 120 ms would have the condition. [2] ...
... Lown suggested that 17% of people with a PR interval of less than 120 ms would have the condition. [2] ...
Angelman Syndrome - Continuum of Care
... There is no available treatment or prevention at this time. Genetic counseling is available, but about 70-75% of cases are caused by spontaneously occurring abnormalities. Routine prenatal testing often misses these abnormalities since they are too small or require specialized testing looking specif ...
... There is no available treatment or prevention at this time. Genetic counseling is available, but about 70-75% of cases are caused by spontaneously occurring abnormalities. Routine prenatal testing often misses these abnormalities since they are too small or require specialized testing looking specif ...
bardet-biedl syndrome - Foundation Fighting Blindness
... webbing (extra skin) between fingers and between toes is also common. Most individuals have short, broad feet as well. Obesity may be present by childhood and is usually limited to the trunk of the body. Many individuals are also shorter than average. ...
... webbing (extra skin) between fingers and between toes is also common. Most individuals have short, broad feet as well. Obesity may be present by childhood and is usually limited to the trunk of the body. Many individuals are also shorter than average. ...
Down Syndrome ( Trisomy 21 )
... and nervous system. About 1/3 of children lose the cry by age 2. Other symptoms: feeding problems because of difficulty ...
... and nervous system. About 1/3 of children lose the cry by age 2. Other symptoms: feeding problems because of difficulty ...
Powerpoint
... Table 5. Ca2+-Dependent Arrhythmia Syndromes AT indicates atrial tachycardia; LVH, left ventricular hypertrophy; black boxes, genes directly involved in Ca2+ transport function; ↑, gain of function; ↓, loss of function; ARVC2, Arrhythmogenic Right Ventricular Cardiomyopathy type 2 (atypical form of ...
... Table 5. Ca2+-Dependent Arrhythmia Syndromes AT indicates atrial tachycardia; LVH, left ventricular hypertrophy; black boxes, genes directly involved in Ca2+ transport function; ↑, gain of function; ↓, loss of function; ARVC2, Arrhythmogenic Right Ventricular Cardiomyopathy type 2 (atypical form of ...
Mental Retardation
... acquire communication skills in later childhood years unlikely to progress beyond 2nd grade level difficulties recognizing social conventions and may interfere with pure relationships needs to be supervised ...
... acquire communication skills in later childhood years unlikely to progress beyond 2nd grade level difficulties recognizing social conventions and may interfere with pure relationships needs to be supervised ...
Pathology of Marfan Syndrome
... targeting TGF β in ECM. Also cysteine rich. LTBP-1 interacts with fibrillin-1 (stabilizer). ...
... targeting TGF β in ECM. Also cysteine rich. LTBP-1 interacts with fibrillin-1 (stabilizer). ...
LCI Grants Program - University of Colorado Denver
... The application must be relevant to Down syndrome and/or one of its associated symptoms, including (but not limited to) Alzheimer’s disease, cognitive deficits, cancer, and developmental abnormalities. The most successful applications will be those that directly address one or more of the “major cha ...
... The application must be relevant to Down syndrome and/or one of its associated symptoms, including (but not limited to) Alzheimer’s disease, cognitive deficits, cancer, and developmental abnormalities. The most successful applications will be those that directly address one or more of the “major cha ...
Aarskog-Scott syndrome:Report of 7 cases and review of literature
... age of two to five. Most patients are below the third percentile in height, adults rarely exceeding the third percentile. The facies is especially characteristic. The forehead is broad, often with a widow's peak and prominent metopic ridge. They have round face, hypertelorism, downslanting palpebral ...
... age of two to five. Most patients are below the third percentile in height, adults rarely exceeding the third percentile. The facies is especially characteristic. The forehead is broad, often with a widow's peak and prominent metopic ridge. They have round face, hypertelorism, downslanting palpebral ...
Jacobsen Disease
... nasal bridge, a short nose with upturned nostrils, a small chin (micrognathia), low-set ears, and a thin upper lip. ...
... nasal bridge, a short nose with upturned nostrils, a small chin (micrognathia), low-set ears, and a thin upper lip. ...
Document
... • The larger the size of the chromosomal deletion, the more pronounced the physical characteristics are among individuals with Cri du Chat Syndrome. • Physical features include: ...
... • The larger the size of the chromosomal deletion, the more pronounced the physical characteristics are among individuals with Cri du Chat Syndrome. • Physical features include: ...
Causes - Coweta County Schools
... Fetal Alcohol Syndrome • failure to thrive • organ dysfunction • facial abnormalities: smaller eye openings, flattened cheekbones, and indistinct philtrum • epilepsy • poor coordination/fine motor skills • poor socialization skills • lack of imagination • learning difficulties • behavioral problems ...
... Fetal Alcohol Syndrome • failure to thrive • organ dysfunction • facial abnormalities: smaller eye openings, flattened cheekbones, and indistinct philtrum • epilepsy • poor coordination/fine motor skills • poor socialization skills • lack of imagination • learning difficulties • behavioral problems ...
7. Oswaldo Hasb n - Cri-du-Chat
... Mental retardation/delayed development High-pitched cat-like cry (Same cry is seen in patients with a deletion confined to 5p15.3 and without the typical dysmorphic and severe developmental features of the syndrome). ...
... Mental retardation/delayed development High-pitched cat-like cry (Same cry is seen in patients with a deletion confined to 5p15.3 and without the typical dysmorphic and severe developmental features of the syndrome). ...
Guillain-Barre Syndrome
... up to 30% may req ventilatory support In severe cases, intrarterial monitoring may be necessary given the gisngifcant blood pressure fluctuations Neuropathic pain plagues most, often managed w/ Gabapentin or Carbamazepine ...
... up to 30% may req ventilatory support In severe cases, intrarterial monitoring may be necessary given the gisngifcant blood pressure fluctuations Neuropathic pain plagues most, often managed w/ Gabapentin or Carbamazepine ...
Chromosomal Disorders
... • Affected individuals have some degree of intellectual disability, characteristic facial features and, often, heart defects and other health problems. The severity of these problems varies greatly among affected individuals. ...
... • Affected individuals have some degree of intellectual disability, characteristic facial features and, often, heart defects and other health problems. The severity of these problems varies greatly among affected individuals. ...
投影片 1
... Lesch-Nyhan syndrome (LNS) is a rare genetic disorder characterized by an overproduction of uric acid, neurological disability, and behavioral problems. The symptoms of LNS typically appear between ages 3 and 6 months; the presence of orange-colored crystal-like deposits (orange sand) in the child ...
... Lesch-Nyhan syndrome (LNS) is a rare genetic disorder characterized by an overproduction of uric acid, neurological disability, and behavioral problems. The symptoms of LNS typically appear between ages 3 and 6 months; the presence of orange-colored crystal-like deposits (orange sand) in the child ...
Noonan syndrome information sheet
... Disability’ 2005, which can be consulted for more detailed information.) ...
... Disability’ 2005, which can be consulted for more detailed information.) ...
The Genetics of Williams syndrome: An Update
... Approximately 6% of the general population has an inverseveral factors. First, the size of the deletion plays a role. sion of the Williams syndrome region and approximately Individuals with WS who have a deletion of 28 instead of 26 25% of “transmitting” parents of children with Williams genes have ...
... Approximately 6% of the general population has an inverseveral factors. First, the size of the deletion plays a role. sion of the Williams syndrome region and approximately Individuals with WS who have a deletion of 28 instead of 26 25% of “transmitting” parents of children with Williams genes have ...
Long QT Syndrome
... syncope, family h/o SCD, deafness 7 genetic defects Important for identifying arrhythmia triggers LQT1 = exercise-related LQT2 = auditory stimuli LQT3 = at rest or sleep; no benefit from BB Most cases discovered after syncope or arrest ...
... syncope, family h/o SCD, deafness 7 genetic defects Important for identifying arrhythmia triggers LQT1 = exercise-related LQT2 = auditory stimuli LQT3 = at rest or sleep; no benefit from BB Most cases discovered after syncope or arrest ...
Happy Heart Syndrome It`s already been proven that intense
... It's already been proven that intense emotional distress -- say, after losing a loved one -- can trigger a cardiac abnormality called "broken heart syndrome." But now new research suggests sudden bursts of joy can have the same effect. The condition, known as Takotsubo syndrome (TTS), occurs when th ...
... It's already been proven that intense emotional distress -- say, after losing a loved one -- can trigger a cardiac abnormality called "broken heart syndrome." But now new research suggests sudden bursts of joy can have the same effect. The condition, known as Takotsubo syndrome (TTS), occurs when th ...
Brad Magaoay - Williams Beuren Syndrome
... De novo contguous deleton within the WBSCR Hemizygosity for the ELN gene 100% Penetrance 50% chance that a parent with Williams Syndrome will pass the mutated chromosome to their child • Occurs in 1:7,500 births in Norway and 1:20,000 births in the U.S. ...
... De novo contguous deleton within the WBSCR Hemizygosity for the ELN gene 100% Penetrance 50% chance that a parent with Williams Syndrome will pass the mutated chromosome to their child • Occurs in 1:7,500 births in Norway and 1:20,000 births in the U.S. ...
Williams syndrome
Williams syndrome (WS), also known as Williams–Beuren syndrome (WBS), is a rare neurodevelopmental disorder characterized by: a distinctive, ""elfin"" facial appearance, along with a low nasal bridge; an unusually cheerful demeanor and ease with strangers; developmental delay coupled with strong language skills; and cardiovascular problems, such as supravalvular aortic stenosis and transient high blood calcium.It is caused by a deletion of about 26 genes from the long arm of chromosome 7. It occurs in 1 in 7,500 to 1 in 20,000 births. The syndrome was first identified in 1961 by New Zealander J.C.P. Williams.