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1.

Aicardi syndrome

Aicardi syndrome was classically characterized by a triad of features: agenesis of the corpus callosum, distinctive chorioretinal lacunae, and infantile spasms. However, it is now well recognized that several other important findings are typically present in girls with Aicardi syndrome. Neurologic examination can reveal microcephaly, axial hypotonia, and appendicular hypertonia with spasticity. Moderate to severe global developmental delay and intellectual disability are expected. Many girls with Aicardi syndrome develop seizures prior to age three months, and most before age one year. Ongoing medically refractory epilepsy with a variety of seizure types develops over time. Costovertebral defects are common and can lead to marked scoliosis in up to one third of affected individuals. Other features include characteristic facial features, gastrointestinal difficulties, small hands, vascular malformations and pigmentary lesions of the skin, increased incidence of tumors, lower growth rate after ages seven to nine years, and precocious or delayed puberty. Survival is highly variable, with the mean age of death about 8.3 years and the median age of death about 18.5 years. [from GeneReviews]

MedGen UID:
61236
Concept ID:
C0175713
Disease or Syndrome
2.

Vascular anomaly

A spectrum of congenital, inherited, or acquired abnormalities in BLOOD VESSELS that can adversely affect the normal blood flow in ARTERIES or VEINS. Most are congenital defects such as abnormal communications between blood vessels (fistula), shunting of arterial blood directly into veins bypassing the CAPILLARIES (arteriovenous malformations), formation of large dilated blood blood-filled vessels (cavernous angioma), and swollen capillaries (capillary telangiectases). In rare cases, vascular malformations can result from trauma or diseases. [from MeSH]

MedGen UID:
56387
Concept ID:
C0158570
Anatomical Abnormality
3.

Nevus

Moles are growths on the skin. They happen when pigment cells in the skin, called melanocytes, grow in clusters. Moles are very common. Most people have between 10 and 40 moles. A person may develop new moles from time to time, usually until about age 40. In older people, they tend to fade away. Moles are usually pink, tan or brown. They can be flat or raised. They are usually round or oval and no larger than a pencil eraser. About one out of every ten people has at least one unusual (or atypical) mole that looks different from an ordinary mole. They are called dysplastic nevi. They may be more likely than ordinary moles to develop into melanoma, a type of skin cancer. You should have a health care professional check your moles if they look unusual, grow larger, change in color or outline, or in any other way. NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
45074
Concept ID:
C0027960
Neoplastic Process
4.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI_NCI-GLOSS]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
5.

West syndrome

X-linked infantile spasm syndrome is a seizure disorder characterized by a type of seizure known as infantile spasms. The spasms usually appear before the age of 1. Several types of spasms have been described, but the most commonly reported involves bending at the waist and neck with extension of the arms and legs (sometimes called a jackknife spasm). Each spasm lasts only seconds, but they occur in clusters several minutes long. Although individuals are not usually affected while they are sleeping, the spasms commonly occur just after awakening. Infantile spasms usually disappear by age 5, but many children then develop other types of seizures that recur throughout their lives.Most babies with X-linked infantile spasm syndrome have characteristic results on an electroencephalogram (EEG), a test used to measure the electrical activity of the brain. The EEG of these individuals typically shows an irregular pattern known as hypsarrhythmia, and this finding can help differentiate infantile spasms from other types of seizures.Because of the recurrent seizures, babies with X-linked infantile spasm syndrome stop developing normally and begin to lose skills they have acquired (developmental regression), such as sitting, rolling over, and babbling. Subsequently, development in affected children is delayed. Most affected individuals also have intellectual disability throughout their lives.
[from GHR]

MedGen UID:
11519
Concept ID:
C0037769
Disease or Syndrome; Finding
6.

Agenesis

A congenital abnormality resulting in the absence of an anatomical structure. (NCI) [from NCI_CDISC]

MedGen UID:
7816
Concept ID:
C0000846
Congenital Abnormality
7.

Multiple congenital anomalies

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

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
8.

Facial features

MedGen UID:
880870
Concept ID:
CN236432
Finding
9.

Moderate to profound mental retardation

MedGen UID:
879893
Concept ID:
CN235282
Finding
10.

Infantile spasms

Infantile spasms represent a subset of \ [from HPO]

MedGen UID:
854616
Concept ID:
C3887898
Disease or Syndrome
11.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) [from MeSH]

MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
12.

facial dysmorphisms

MedGen UID:
808241
Concept ID:
CN221668
Finding
13.

Angiosarcoma

MedGen UID:
797914
Concept ID:
CN202285
Disease or Syndrome
14.

Profound

Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
615266
Concept ID:
C0439808
Qualitative Concept
15.

Has "spasms"

MedGen UID:
605397
Concept ID:
C0427091
Finding
16.

Sporadic disorder

MedGen UID:
548249
Concept ID:
C0277552
Disease or Syndrome
17.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
18.

Hypoplasia

Incomplete or arrested development of an organ or a part [from CHV]

MedGen UID:
537146
Concept ID:
C0243069
Pathologic Function
19.

Moderate

Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
525853
Concept ID:
C0205081
Qualitative Concept
20.

Skin lesions

MedGen UID:
508146
Concept ID:
C0037284
Disease or Syndrome
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