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Disease Profile
Nijmegen breakage syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Infancy
ICD-10
Q87.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Berlin Breakage syndrome; Ataxia-Telangiectasia variant V1; Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies;
Categories
Congenital and Genetic Diseases; Immune System Diseases; Rare Cancers
Summary
Orpha Number: 647
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal hair quantity | 0011362 | |
Abnormality of |
0003220 | |
Anal atresia |
Absent anus
|
0002023 |
Anal stenosis |
Narrowing of anal opening
|
0002025 |
Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] |
0007018 |
Autoimmune |
0001890 | |
Cachexia |
Wasting syndrome
|
0004326 |
Chronic diarrhea | 0002028 | |
Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ] |
0000444 |
Deep philtrum | 0002002 | |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Hearing abnormality |
Abnormal hearing
|
0000364 |
Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ] |
0000294 |
Macrotia |
Large ears
|
0000400 |
Mental deterioration |
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ] |
0001268 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ] |
0000426 |
Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ] |
0000448 |
Recurrent pneumonia | 0006532 | |
Recurrent sinopulmonary infections |
Recurrent sinus and lung infections
|
0005425 |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] |
0000278 |
Short neck |
Decreased length of neck
|
0000470 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Sloping forehead |
Inclined forehead
Receding forehead
[ more ] |
0000340 |
Low platelet count
|
0001873 | |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
30%-79% of people have these symptoms | ||
Pollakisuria |
Frequent urination
|
0100515 |
5%-29% of people have these symptoms | ||
Abnormality of neuronal migration | 0002269 | |
Acute leukemia | 0002488 | |
B |
0012191 | |
Cleft roof of mouth
|
0000175 | |
Cutaneous photosensitivity |
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity
[ more ] |
0000992 |
Freckling | 0001480 | |
Glioma | 0009733 | |
Muscle weakness |
Muscular weakness
|
0001324 |
Non-midline |
0100335 | |
Respiratory failure | 0002878 | |
Rhabdomyosarcoma | 0002859 | |
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ] |
0003202 |
T-cell lymphoma | 0012190 | |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
B lymphocytopenia |
Low B cell count
|
0010976 |
Bronchiectasis |
Permanent enlargement of the airways of the lungs
|
0002110 |
Cafe-au-lait spot | 0000957 | |
Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ] |
0000453 |
Cleft upper lip |
Harelip
|
0000204 |
Diarrhea |
Watery stool
|
0002014 |
Dysgammaglobulinemia | 0002961 | |
Hydronephrosis | 0000126 | |
Hyperactivity |
More active than typical
|
0000752 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Long nose |
Elongated nose
Increased height of nose
Increased length of nose
Increased nasal height
Increased nasal length
Nasal elongation
[ more ] |
0003189 |
Lymphoma |
Cancer of lymphatic system
|
0002665 |
Malar prominence | 0010620 | |
Mastoiditis | 0000265 | |
Medulloblastoma
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start
In-Depth Information
Rare Ophthalmology News |