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Disease Profile
Desmosterolosis
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
Categories
Congenital and Genetic Diseases; Metabolic disorders; Musculoskeletal Diseases
Summary
Orpha Number: 35107
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 | ||
Absent septum pellucidum | 0001331 | |
Agenesis of |
0001274 | |
Bifid uvula | 0000193 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Muscle stiffness | 0003552 | |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] |
0000278 |
Rigidity |
Muscle rigidity
|
0002063 |
Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] |
0003510 |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Submucous cleft hard palate | 0000176 | |
30%-79% of people have these symptoms | ||
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 |
Large earlobe |
Fleshy earlobe
Fleshy earlobes
Prominent ear lobes
prominent ear lobules
[ more ] |
0009748 |
Low-set, posteriorly rotated ears | 0000368 | |
Narrow mouth |
Small mouth
|
0000160 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Status epilepticus |
Repeated seizures without recovery between them
|
0002133 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Ventriculomegaly | 0002119 | |
5%-29% of people have these symptoms | ||
Ambiguous genitalia |
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ] |
0000062 |
Anomalous pulmonary venous return | 0010772 | |
Dermal atrophy |
Skin degeneration
|
0004334 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Frontal bossing | 0002007 | |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Intestinal malrotation | 0002566 | |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Macrogyria | 0007227 | |
Metatarsus adductus |
Front half of foot turns inward
|
0001840 |
Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
Osteopetrosis |
Harder, denser, fracture-prone bones
|
0011002 |
Pachygyria |
Fewer and broader ridges in brain
|
0001302 |
Patent ductus arteriosus | 0001643 | |
Polymicrogyria |
More grooves in brain
|
0002126 |
Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ] |
0011220 |
Renal agenesis |
Absent kidney
Missing kidney
[ more ] |
0000104 |
Splenomegaly |
Increased spleen size
|
0001744 |
Talipes | 0001883 | |
1%-4% of people have these symptoms | ||
Abnormal circulating cholesterol concentration |
Abnormality of cholesterol metabolism
|
0003107 |
Alveolar ridge overgrowth |
Overgrowth of gum ridge
|
0009085 |
Ambiguous genitalia, female |
Atypical appearance of female genitals
|
0000061 |
Ambiguous genitalia, male |
Ambiguous genitalia in males
|
0000033 |
Aplasia/Hypoplasia of the corpus callosum | 0007370 | |
Bilateral talipes equinovarus |
Club foot on both sides
|
0001776 |
Cleft roof of mouth
|
0000175 | |
Cupped ear |
Cup-shaped ears
Simple, cup-shaped ears
[ more ] |
0000378 |
Generalized osteosclerosis | 0005789 | |
Gingival fibromatosis | 0000169 | |
Global |
0001263 | |
Hypoplastic nasal bridge |
Decreased size of nasal bridge
Small bridge of nose
Small nasal bridge
[ more ] |
0005281 |
Joint |
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. Where to Start
In-Depth Information
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