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Items: 8

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 GTR]

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

Polymicrogyria; Macrocepahly

MedGen UID:
851803
Concept ID:
CN233167
Finding
3.

Chorioretinal lacunae

Punched out lesions in the pigmented layer of the retina. [from HPO]

MedGen UID:
375497
Concept ID:
C1844751
Finding
4.

Bilateral microphthalmos

A congenital abnormality characterized by the presence of two abnormally small eye globes. [from NCI]

MedGen UID:
334420
Concept ID:
C1843496
Congenital Abnormality; Finding
5.

Hypoplasia of the brainstem

Underdevelopment of the brainstem. [from HPO]

MedGen UID:
334226
Concept ID:
C1842688
Finding
6.

Thoracic hemivertebrae

Absence of one half of the vertebral body in the thoracic spine. [from HPO]

MedGen UID:
98142
Concept ID:
C0432152
Congenital Abnormality
7.

Hemivertebrae

A congenital abnormality characterized by incomplete development of one side of the vertebrae (arch and hemicentrum), resulting in spinal malformation. [from NCI]

MedGen UID:
82720
Concept ID:
C0265677
Congenital Abnormality
8.

Microcornea

A congenital abnormality characterized by an abnormally small cornea. The horizontal corneal diameter is less than 10mm or less than 9mm in newborns. It is associated with an increased risk of glaucoma. [from NCI]

MedGen UID:
78610
Concept ID:
C0266544
Congenital Abnormality
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