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Items: 20

1.

Frank Ter Haar syndrome

The primary characteristics of the Frank-ter Haar syndrome are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers. Protruding, simple ears and prominent coccyx are also regarded as important diagnostic signs (summary by Maas et al., 2004). Borrone syndrome was described as a severe progressive multisystem disorder with features overlapping those of FTHS, including thick skin, acne conglobata, osteolysis, gingival hypertrophy, brachydactyly, camptodactyly, and mitral valve prolapse. Although it was initially thought to be a distinct phenotype, mutations in the FTHS-associated gene SH3PXD2B have been identified in patients diagnosed with Borrone syndrome. The earlier differential description was attributed to phenotypic variability as well as to differences in the ages at which patients were examined (Wilson et al., 2014). [from OMIM]

MedGen UID:
383652
Concept ID:
C1855305
Disease or Syndrome
2.

Skeletal dysplasia

A general term describing features characterized by abnormal development of bones and connective tissues. [from HPO]

MedGen UID:
505316
Concept ID:
CN002411
Finding
3.

Thoracomelic dysplasia

MedGen UID:
336441
Concept ID:
C1848863
Disease or Syndrome
4.

Skeletal dysplasia

MedGen UID:
98053
Concept ID:
C0410528
Congenital Abnormality; Disease or Syndrome
5.

Osteochondrodysplasia

A general term describing features characterized by abnormal development of bones and connective tissues. [from HPO]

MedGen UID:
10495
Concept ID:
C0029422
Congenital Abnormality; Disease or Syndrome
6.

Hypertelorism

Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995). [from OMIM]

MedGen UID:
9373
Concept ID:
C0020534
Congenital Abnormality; Finding
7.

Congenital anomaly of eye

Congenital absence of or defects in structures of the eye; may also be hereditary. [from MeSH]

MedGen UID:
4623
Concept ID:
C0015393
Congenital Abnormality; Disease or Syndrome
8.

Hypertelorism

Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). [from HPO]

MedGen UID:
504419
Concept ID:
CN000296
Finding
9.

Proptosis

An eye that is protruding anterior to the plane of the face to a greater extent than is typical. [from HPO]

MedGen UID:
350667
Concept ID:
C1862425
Finding
10.

Increased intraocular pressure

MedGen UID:
68606
Concept ID:
C0234708
Finding
11.

Multiple congenital anomalies

Congenital abnormalities that affect more than one organ or body structure. [from MeSH]

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
12.

Heart, malformation of

A congenital heart defect is a problem with the structure of the heart. It is present at birth. Congenital heart defects are the most common type of birth defect. The defects can involve the walls of the heart, the valves of the heart, and the arteries and veins near the heart. They can disrupt the normal flow of blood through the heart. The blood flow can slow down, go in the wrong direction or to the wrong place, or be blocked completely. Doctors use a physical exam and special heart tests to diagnose congenital heart defects. They often find severe defects during pregnancy or soon after birth. Signs and symptoms of severe defects in newborns include. -Rapid breathing. -Cyanosis - a bluish tint to the skin, lips, and fingernails. -Fatigue. -Poor blood circulation. Many congenital heart defects cause few or no signs and symptoms. They are often not diagnosed until children are older. Many children with congenital heart defects don't need treatment, but others do. Treatment can include medicines, catheter procedures, surgery, and heart transplants. The treatment depends on the type of the defect, how severe it is, and a child's age, size, and general health. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
6748
Concept ID:
C0018798
Congenital Abnormality
13.

Heart disease

If you're like most people, you think that heart disease is a problem for others. But heart disease is the number one killer in the U.S. It is also a major cause of disability. There are many different forms of heart disease. The most common cause of heart disease is narrowing or blockage of the coronary arteries, the blood vessels that supply blood to the heart itself. This is called coronary artery disease and happens slowly over time. It's the major reason people have heart attacks. Other kinds of heart problems may happen to the valves in the heart, or the heart may not pump well and cause heart failure. Some people are born with heart disease. You can help reduce your risk of heart disease by taking steps to control factors that put you at greater risk:. - Control your blood pressure. - Lower your cholesterol. - Don't smoke. - Get enough exercise. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
5458
Concept ID:
C0018799
Disease or Syndrome
14.

Disease

Any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. The term is often used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function. [from NCI]

MedGen UID:
4347
Concept ID:
C0012634
Disease or Syndrome
15.

Disorder of cardiovascular system

Any abnormality of the cardiovascular system. [from HPO]

MedGen UID:
2848
Concept ID:
C0007222
Disease or Syndrome
16.

Megarbane syndrome

MedGen UID:
339864
Concept ID:
C1847871
Disease or Syndrome
17.

Sotos syndrome 1

Sotos syndrome is characterized by a distinctive facial appearance (broad and prominent forehead, sparse frontotemporal hair, downslanting palpebral fissures, malar flushing, long and narrow face, long chin); learning disability (early developmental delay, mild to severe intellectual impairment); and overgrowth (height and/or head circumference =2 SD above the mean). These three clinical features are considered the cardinal features of Sotos syndrome. Major features of Sotos syndrome include behavioral problems, advanced bone age, cardiac anomalies, cranial MRI/CT abnormalities, joint hyperlaxity/pes planus, maternal preeclampsia, neonatal jaundice, neonatal hypotonia, renal anomalies, scoliosis, and seizures. [from GeneReviews]

MedGen UID:
833601
Concept ID:
CN035106
Disease or Syndrome
18.

Abnormal intraocular pressure

An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye. [from HPO]

MedGen UID:
636377
Concept ID:
C0520999
Finding
19.

Abnormality of the orbital region

MedGen UID:
446347
Concept ID:
CN000295
Finding
20.

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
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