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Disease Profile
Primrose 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.
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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)
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome; Ossified ear cartilages with mental deficiency, muscle wasting, and bony changes
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Primrose
Symptoms
- Characteristic facial features (deep set eyes, small lower jaw, drooping of the eyelid) and a large head (macrocephaly)
Autism , behavioral abnormalities, andintellectual disability - Neurological symptoms including brain calcifications, partial or complete absence of the structure that connects the two hemispheres of the brain (agenesis of the corpus callosum) muscle wasting, and problems with coordination (
ataxia ) Cataracts - Calcification (hardening) of the outer ear, recurrent ear infections, and
hearing loss - Sparse body hair
- Torus palatinus (a hard bony growth in the roof of the mouth)
- Diabetes
- Fluid filled lesions (cysts) in the bones
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 palate morphology |
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ] |
0000174 |
Low number of red blood cells or hemoglobin
|
0001903 | |
Bone cyst |
Bone cysts
|
0012062 |
Calcification of the auricular cartilage | 0005103 | |
Cataract |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Hip |
0003273 | |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Decreased activity of gonads
|
0000135 | |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
Irregular vertebral endplates | 0003301 | |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Macrotia |
Large ears
|
0000400 |
Myopathy |
Muscle tissue disease
|
0003198 |
Osteolysis |
Breakdown of bone
|
0002797 |
Posterior scalloping of vertebral bodies | 0005121 | |
0002650 | ||
30%-79% of people have these symptoms | ||
Anonychia |
Absent nails
Aplastic nails
[ more ] |
0001798 |
Bilateral cryptorchidism | 0008689 | |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Enlarged male breast
|
0000771 | |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
Narrow iliac wings | 0002868 | |
Pectus excavatum |
Funnel chest
|
0000767 |
Plagiocephaly |
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ] |
0001357 |
0001250 | ||
Decreased body height
Small stature
[ more ] |
0004322 | |
Synophrys |
Monobrow
Unibrow
[ more ] |
0000664 |
5%-29% of people have these symptoms | ||
Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ] |
0000718 |
Autism | 0000717 | |
Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
Underactive thyroid gland from birth
|
0000851 | |
Hypergonadotropic hypogonadism | 0000815 | |
Restlessness | 0000711 | |
Self-injurious behavior |
Self-injurious behaviour
|
0100716 |
Percent of people who have these symptoms is not available through HPO | ||
Absent axillary hair | 0002221 | |
Absent facial hair | 0002550 | |
0000006 | ||
Basilar impression | 0005758 | |
Brachycephaly |
Short and broad skull
|
0000248 |
Broad forehead |
Increased width of the forehead
Wide forehead
[ more ] |
0000337 |
Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ] |
0000490 |
0000819 | ||
Distal amyotrophy |
Distal muscle wasting
|
0003693 |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ] |
0002714 |
Dystrophic fingernails |
Poor fingernail formation
|
0008391 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Generalized |
0040160 | |
Genu valgum |
Knock knees
|
0002857 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
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. In-Depth Information
References
Rare Oncology News |