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Results: 1 to 20 of 47

1.

Cockayne syndrome

Cockayne syndrome is a rare disorder characterized by short stature and an appearance of premature aging. Features of this disorder include a failure to gain weight and grow at the expected rate (failure to thrive), abnormally small head size (microcephaly), and impaired development of the nervous system. Affected individuals have an extreme sensitivity to sunlight (photosensitivity), and even a small amount of sun exposure can cause a sunburn. Other possible signs and symptoms include hearing loss, eye abnormalities, severe tooth decay, bone abnormalities, and changes in the brain that can be seen on brain scans. Cockayne syndrome can be divided into subtypes, which are distinguished by the severity and age of onset of symptoms. Classical, or type I, Cockayne syndrome is characterized by an onset of symptoms in early childhood (usually after age 1 year). Type II Cockayne syndrome has much more severe symptoms that are apparent at birth (congenital). Type II Cockayne syndrome is sometimes called cerebro-oculo-facio-skeletal (COFS) syndrome or Pena-Shokeir syndrome type II. Type III Cockayne syndrome has the mildest symptoms of the three types and appears later in childhood.
[from GHR]

MedGen UID:
40363
Concept ID:
C0009207
Disease or Syndrome
2.

Cutaneous photosensitivity

An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. [from HPO]

MedGen UID:
428240
Concept ID:
CN000929
Finding
3.

Photoparoxysmal response 1

MedGen UID:
358382
Concept ID:
C1868677
Disease or Syndrome
4.

Craniosynostosis 2

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (Fitzpatrick, 2013). For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100). [from OMIM]

MedGen UID:
346753
Concept ID:
C1858160
Disease or Syndrome
5.

Cockayne syndrome, type B

Cockayne syndrome (referred to as CS in this GeneReview) spans a phenotypic spectrum that includes: CS type I, the "classic" or “moderate” form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal syndrome (COFS) or Pena-Shokeir syndrome type II; CS type III, a milder form; Xeroderma pigmentosum-Cockayne syndrome (XP-CS). CS type I (moderate CS) is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II (severe CS or early-onset CS) is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age seven years. CS type III (mild CS or late-onset CS) is characterized by essentially normal growth and cognitive development or by late onset. Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, including intellectual disability, spasticity, short stature, and hypogonadism. XP-CS does not include skeletal involvement, the facial phenotype of CS, or CNS dysmyelination and calcifications. [from GeneReviews]

MedGen UID:
155487
Concept ID:
C0751038
Disease or Syndrome
6.

Severe

A term used to describe cells that look abnormal under a microscope. These cells are more likely to grow and spread quickly than cells in low-grade cancer or in growths that may become cancer. [from NCI]

MedGen UID:
104640
Concept ID:
C0205082
7.

Photogenic epilepsy

The photoparoxysmal response (PPR), also referred to as photosensitivity, is defined as the abnormal occurrence of cortical spikes or spike and wave discharges on electroencephalogram (EEG) in response to intermittent light stimulation (Doose and Waltz, 1993). Photosensitivity is a frequent finding in patients with idiopathic generalized epilepsy (see 600669), especially those with juvenile myoclonic epilepsy, suggesting a common epileptogenic pathway for both phenomena. The comorbidity of the 2 disorders suggests that presence of PPR may also increase the risk for epilepsy (Stephani et al., 2004; Tauer et al., 2005). Genetic Heterogeneity of Photoparoxysmal Response The PPR1 locus has been mapped to chromosome 6p21. See also PPR2 (609572), mapped to chromosome 13q31, and PPR3 (609573), mapped to chromosome 7q32. [from OMIM]

MedGen UID:
98285
Concept ID:
C0393720
Disease or Syndrome
8.

Photosensitivity

increased sensitivity of the skin to light and other sources of UV [from CHV]

MedGen UID:
87601
Concept ID:
C0349506
Finding
9.

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]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
10.

Amino acid

One of several molecules that join together to form proteins. There are 20 common amino acids found in proteins. [from NCI]

MedGen UID:
250
Concept ID:
C0002520
Pharmacologic Substance
11.

Unable

MedGen UID:
721425
Concept ID:
C1299582
Finding
12.

Ability to carry

MedGen UID:
649658
Concept ID:
C0565682
Finding
13.

Growth delay

A deficiency or slowing down of growth pre- and postnatally. [from HPO]

MedGen UID:
500905
Concept ID:
CN001379
Finding
14.

Postnatal growth retardation

MedGen UID:
355888
Concept ID:
C1865007
Finding
15.

Intellectual disability

MedGen UID:
334384
Concept ID:
C1843367
Finding
16.

RNA biosynthesis

Used to denote the transcription of DNA into RNA. The biochemical machinery includes sequence-specific DNA binding proteins that directly act in the regulation of the transcription process, other protein factors that participate in the assembly of the transcription complex, and RNA polymerase. [from NCI]

MedGen UID:
272243
Concept ID:
C1328948
Molecular Function
17.

Growth failure

MedGen UID:
163904
Concept ID:
C0878787
Disease or Syndrome
18.

Position

An observation denoting the physical location of a person or thing based on a reference coordinate system.  [from HL7]

MedGen UID:
149196
Concept ID:
C0733755
19.

Autosomal recessive inheritance

Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity). [from NCI]

MedGen UID:
141025
Concept ID:
C0441748
20.

Severity

Used of the degree of something undesirable e.g. pain or weather; also, strictness. [from NCI]

MedGen UID:
141003
Concept ID:
C0439793

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