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Disease Profile
Wrinkly skin 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
Q82.8
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; Digestive Diseases; Eye diseases;
Summary
Wrinkly skin
Symptoms
Common signs and symptoms of wrinkly skin
Small head size (
Unusual facial characteristics
Downslanting eyes
Delayed motor development
Hip dislocation
Joint laxity, subluxation (a tendon slips out of its normal position)
Hernias
Growth delay
Online Mendelian Inheritance in Man (OMIM) lists additional signs and symptoms that have been described in people with wrinkly skin syndrome.
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
|
---|---|---|
100% of people have these symptoms | ||
Excessive skin wrinkling on dorsum of hands and fingers |
Excessive skin wrinkling on back of hands and fingers
|
0007407 |
80%-99% of people have these symptoms | ||
Abnormal isoelectric focusing of serum transferrin | 0003160 | |
Abnormality of the cheek |
Abnormality of the cheeks
|
0004426 |
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 |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 |
Dislocated hip since birth
|
0001374 | |
Coxa vara | 0002812 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Cutis laxa |
Loose and inelastic skin
|
0000973 |
Decreased muscle mass | 0003199 | |
Deep palmar crease |
Deep palm line
|
0006191 |
Deep plantar creases |
Deep wrinkles in soles of feet
|
0001869 |
Delayed closure of the anterior fontanelle |
Later than typical closing of soft spot of skull
|
0001476 |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] |
0000684 |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Fragmented elastic fibers in the dermis | 0025167 | |
Generalized joint laxity |
Hypermobility of all joints
|
0002761 |
Global |
0001263 | |
High myopia |
Severe near sightedness
Severely close sighted
Severely near sighted
[ more ] |
0011003 |
High nonceruloplasmin-bound serum copper | 0010838 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
Inguinal hernia | 0000023 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Kyphoscoliosis | 0002751 | |
Lipodystrophy |
Inability to make and keep healthy fat tissue
|
0009125 |
Long philtrum | 0000343 | |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Multiple palmar creases |
Multiple palm lines
|
0006114 |
Multiple plantar creases | 0008113 | |
Nasal speech |
Nasal voice
|
0001611 |
Osteopenia | 0000938 | |
Pectus excavatum |
Funnel chest
|
0000767 |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
Postnatal growth retardation |
Growth delay as children
|
0008897 |
Premature rupture of membranes | 0001788 | |
Progressive microcephaly |
Progressively abnormally small cranium
Progressively abnormally small skull
[ more ] |
0000253 |
Prominent nasolabial fold |
Deep laugh lines
Deep smile lines
Prominent laugh lines
Prominent smile lines
[ more ] |
0005272 |
Prominent veins on trunk | 0007457 | |
Recurrent sinopulmonary infections |
Recurrent sinus and lung infections
|
0005425 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Slender long bones with narrow diaphyses |
Slender long bones with narrow shaft
|
0004993 |
Small, conical teeth |
Small, cone shaped teeth
|
0200141 |
Smooth philtrum | 0000319 | |
Sparse hair | 0008070 | |
Thick cerebral cortex | 0006891 | |
Umbilical hernia | 0001537 | |
Wormian bones |
Extra bones within cranial sutures
|
0002645 |
30%-79% of people have these symptoms | ||
Atrial septal dilatation | 0011995 | |
Dandy-Walker malformation | 0001305 | |
Progressive cerebellar |
0002073 | |
Slurred speech |
Cause In many cases the underlying genetic cause of wrinkly skin
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
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease
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
Selected Full-Text Journal Articles
References
Rare Neurology News |