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Disease Profile
Martsolf 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
Neonatal
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)
Cataract-intellectual disability-hypogonadism syndrome
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Eye diseases;
Summary
Orpha Number: 1387
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 dermatoglyphics |
Abnormal fingerprints
|
0007477 |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
Feeding difficulties in infancy | 0008872 | |
Furrowed tongue |
Grooved tongue
|
0000221 |
Hypogonadotropic |
0000044 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Low posterior hairline |
Low hairline at back of neck
|
0002162 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Prematurely aged appearance |
Precociously senile appearance
|
0007495 |
Short philtrum | 0000322 | |
Decreased body height
Small stature
[ more ] |
0004322 | |
30%-79% of people have these symptoms | ||
Abnormal distal phalanx morphology of finger |
Abnormality of the outermost finger bone
|
0009832 |
Abnormal toenail morphology |
Abnormality of the toenail
Abnormality of the toenails
[ more ] |
0008388 |
Brachycephaly |
Short and broad skull
|
0000248 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
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 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hyperlordosis |
Prominent swayback
|
0003307 |
Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ] |
0000601 |
Low-set, posteriorly rotated ears | 0000368 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Misalignment of teeth |
Abnormal dental position
Abnormal teeth spacing
Abnormality of alignment of teeth
Abnormality of teeth spacing
Crooked teeth
Malaligned teeth
Malposition of teeth
Malpositioned teeth
[ more ] |
0000692 |
Ulnar deviation of finger |
Finger bends toward pinky
|
0009465 |
5%-29% of people have these symptoms | ||
Abnormality of the antihelix | 0009738 | |
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
0002650 | ||
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Broad fingertip |
Broad fingertips
|
0011300 |
Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ] |
0000455 |
Disease of the heart muscle
|
0001638 | |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ] |
0001635 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ] |
0000327 |
Intellectual disability, progressive |
Mental retardation, progressive
Progressive mental retardation
[ more ] |
0006887 |
Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 |
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] |
0001388 |
Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
Metatarsus adductus |
Front half of foot turns inward
|
0001840 |
Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
Pectus carinatum |
Pigeon chest
|
0000768 |
Pectus excavatum |
Funnel chest
|
0000767 |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Prominent antitragus | 0008593 | |
Prominent nipples | 0004405 | |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
Short metacarpal |
Shortened long bone of hand
|
0010049 |
Short palm | 0004279 | |
Short phalanx of finger |
Short finger bones
|
0009803 |
Short toe |
DiagnosisMaking a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. Testing Resources
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
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