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1.

Sotos syndrome

Sotos syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development of mental and movement abilities. Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin. In addition, the outside corners of the eyes may point downward (down-slanting palpebral fissures). This facial appearance is most notable in early childhood. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have an unusually large head. However, adult height is usually in the normal range.People with Sotos syndrome often have intellectual disability, and most also have behavioral problems. Frequent behavioral issues include attention deficit hyperactivity disorder (ADHD), phobias, obsessions and compulsions, tantrums, and impulsive behaviors. Problems with speech and language are also common. Affected individuals often have a stutter, a monotone voice, and problems with sound production. Additionally, weak muscle tone (hypotonia) may delay other aspects of early development, particularly motor skills such as sitting and crawling.Other signs and symptoms of Sotos syndrome can include an abnormal side-to-side curvature of the spine (scoliosis), seizures, heart or kidney defects, hearing loss, and problems with vision. Some infants with this disorder experience yellowing of the skin and whites of the eyes (jaundice) and poor feeding.A small percentage of people with Sotos syndrome have developed cancer, most often in childhood, but no single form of cancer occurs most frequently with this condition. It remains uncertain whether Sotos syndrome increases the risk of specific types of cancer. If people with this disorder have an increased cancer risk, it is only slightly greater than that of the general population.
[from GHR]

MedGen UID:
61232
Concept ID:
C0175695
Congenital Abnormality; Disease or Syndrome
2.

Left ventricular noncompaction

MedGen UID:
450531
Concept ID:
C1960469
Disease or Syndrome
3.

Macrocephaly

Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014). [from OMIM]

MedGen UID:
65141
Concept ID:
C0221355
Congenital Abnormality; Finding
4.

Heart failure

Heart failure is a condition in which the heart can't pump enough blood to meet the body's needs. Heart failure does not mean that your heart has stopped or is about to stop working. It means that your heart is not able to pump blood the way it should. It can affect one or both sides of the heart. The weakening of the heart's pumping ability causes. -Blood and fluid to back up into the lungs. -The buildup of fluid in the feet, ankles and legs - called edema. -Tiredness and shortness of breath. Common causes of heart failure are coronary artery disease, high blood pressure and diabetes. It is more common in people who are 65 years old or older, African Americans, people who are overweight, and people who have had a heart attack. Men have a higher rate of heart failure than women. Your doctor will diagnose heart failure by doing a physical exam and heart tests. Treatment includes treating the underlying cause of your heart failure, medicines, and heart transplantation if other treatments fail. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
6749
Concept ID:
C0018801
Disease or Syndrome
5.

Arrhythmia

An arrhythmia is a problem with the rate or rhythm of your heartbeat. It means that your heart beats too quickly, too slowly, or with an irregular pattern. When the heart beats faster than normal, it is called tachycardia. When the heart beats too slowly, it is called bradycardia. The most common type of arrhythmia is atrial fibrillation, which causes an irregular and fast heart beat. Many factors can affect your heart's rhythm, such as having had a heart attack, smoking, congenital heart defects, and stress. Some substances or medicines may also cause arrhythmias. . Symptoms of arrhythmias include. -Fast or slow heart beat. -Skipping beats. -Lightheadedness or dizziness. -Chest pain. -Shortness of breath . -Sweating . Your doctor can run tests to find out if you have an arrhythmia. Treatment to restore a normal heart rhythm may include medicines, an implantable cardioverter-defibrillator (ICD) or pacemaker, or sometimes surgery. . NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
2039
Concept ID:
C0003811
Finding; Finding
6.

Heart Failure

MedGen UID:
880986
Concept ID:
CN236639
Disease or Syndrome
7.

Delay

MedGen UID:
879911
Concept ID:
CN235300
Finding
8.

progressive

MedGen UID:
851455
Concept ID:
CN232553
Finding
9.

Macrocephaly

Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014). [from OMIM]

MedGen UID:
745757
Concept ID:
C2243051
Finding; Finding
10.

Cardiomyopathy

A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. [from HPO]

MedGen UID:
504883
Concept ID:
CN001491
Finding
11.

Congestive heart failure

The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. [from HPO]

MedGen UID:
504881
Concept ID:
CN001488
Finding
12.

Global developmental delay

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. [from HPO]

MedGen UID:
504774
Concept ID:
CN001157
Finding
13.

Accelerated skeletal maturation

An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. [from HPO]

MedGen UID:
428158
Concept ID:
CN004973
Finding
14.

Progressive macrocephaly

The progressive development of an abnormally large skull. [from HPO]

MedGen UID:
395368
Concept ID:
C1859896
Finding
15.

Overgrowth

Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. [from HPO]

MedGen UID:
376550
Concept ID:
C1849265
Finding
16.

Growth control, Y-chromosome influenced

MedGen UID:
358267
Concept ID:
C1868676
Finding
17.

Postnatal macrocephaly

The postnatal development of an abnormally large skull (macrocephaly). [from HPO]

MedGen UID:
340230
Concept ID:
C1854417
Finding
18.

Cardiomyopathy

Cardiomyopathy is the name for diseases of the heart muscle. These diseases enlarge your heart muscle or make it thicker and more rigid than normal. In rare cases, scar tissue replaces the muscle tissue. Some people live long, healthy lives with cardiomyopathy. Some people don't even realize they have it. In others, however, it can make the heart less able to pump blood through the body. This can cause serious complications, including . - Heart failure . - Abnormal heart rhythms . - Heart valve problems. - Sudden cardiac arrest. Heart attacks, high blood pressure, infections, and other diseases can all cause cardiomyopathy. Some types of cardiomyopathy run in families. In many people, however, the cause is unknown. Treatment might involve medicines, surgery, other medical procedures, and lifestyle changes. . NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
19.

Accelerated skeletal maturation

An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. [from HPO]

MedGen UID:
154262
Concept ID:
C0545053
Finding
20.

Rare disorders

A rare disease is one that affects fewer than 200,000 people in the United States. There are nearly 7,000 rare diseases. More than 25 million Americans have one. Rare diseases. -May involve chronic illness, disability, and often premature death. -Often have no treatment or not very effective treatment. -Are frequently not diagnosed correctly. -Are often very complex. -Are often caused by changes in genes. It can be hard to find a specialist who knows how to treat your rare disease. Disease advocacy groups, rare disease organizations, and genetics clinics may help you to find one. NIH: National Institutes of Health.  [from MedlinePlus]

MedGen UID:
146261
Concept ID:
C0678236
Disease or Syndrome
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