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Disease Profile
Aarskog 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
Childhood
ICD-10
Q87.1
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)
Aarskog Scott syndrome; Faciodigitogenital syndrome; Faciogenital dysplasia;
Categories
Congenital and Genetic Diseases; Kidney and Urinary Diseases; Nervous System Diseases;
Summary
Aarskog
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 | ||
Broad foot |
Broad feet
Wide foot
[ more ] |
0001769 |
Broad palm |
Broad hands
Broad hand
Wide palm
[ more ] |
0001169 |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Shawl scrotum |
Scrotum surrounds penis
|
0000049 |
Short foot |
Short feet
Small feet
[ more ] |
0001773 |
Short palm | 0004279 | |
Small stature
Decreased body height
[ more ] |
0004322 | |
Small hand |
Disproportionately small hands
|
0200055 |
Umbilical hernia | 0001537 | |
30%-79% of people have these symptoms | ||
Anteverted nares |
Upturned nasal tip
Nasal tip, upturned
Upturned nostrils
Upturned nose
[ more ] |
0000463 |
Broad forehead |
Increased width of the forehead
Wide forehead
[ more ] |
0000337 |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
External ear malformation | 0008572 | |
Finger |
0006101 | |
High anterior hairline |
High frontal hairline
|
0009890 |
Hyperextensible skin |
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ] |
0000974 |
Inguinal hernia | 0000023 | |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Long philtrum | 0000343 | |
Low-set, posteriorly rotated ears | 0000368 | |
Drooping upper eyelid
|
0000508 | |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
5%-29% of people have these symptoms | ||
Abnormal vertebral segmentation and fusion | 0005640 | |
Abnormality of cardiovascular system morphology | 0030680 | |
Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] |
0007018 |
Cleft roof of mouth
|
0000175 | |
Cleft upper lip |
Harelip
|
0000204 |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ] |
0001635 |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] |
0000684 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Genu recurvatum |
Back knee
Knee hyperextension
[ more ] |
0002816 |
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 |
Megalocornea |
Enlarged cornea
|
0000485 |
Pectus excavatum |
Funnel chest
|
0000767 |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
Round face |
Circular face
Round facial appearance
Round facial shape
[ more ] |
0000311 |
Short neck |
Decreased length of neck
|
0000470 |
Single transverse palmar crease | 0000954 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Talipes | 0001883 | |
1%-4% of people have these symptoms | ||
Broad philtrum | 0000289 | |
Global |
0001263 | |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 | |
Lozenge-shaped umbilicus | 0032277 | |
Prominent umbilicus |
Prominent belly button
Prominent navel
[ more ] |
0001544 |
Short 5th finger |
Short fifth finger
Short fifth fingers
Short little finger
Short pinkie finger
Short pinky finger
[ more ] |
0009237 |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Percent of people who have these symptoms is not available through HPO | ||
Conditions with similar signs and symptoms from Orphanet
|
---|
When molecular diagnosis is not conclusive, all possible options for differential diagnosis should still be considered, including Noonan syndrome, SHORT syndrome, pseudohypoparathyroidism and Robinow syndrome (see these terms).
Visit the Orphanet disease page for more information.
|
Organizations
Support 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
-
The Aarskog Foundation
Toll-free: 0800 001 6623
E-mail: [email protected]
Website: https://www.aarskogsyndromefoundation.co.uk/
Learn more
These 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
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Aarskog syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Aarskog syndrome. Click on the link to view a sample search on this topic.
References
- Aarskog syndrome. MedlinePlus. 2010; https://www.nlm.nih.gov/medlineplus/ency/article/001654.htm. Accessed 9/7/2011.
- Aarskog-Scott syndrome. Genetics Home Reference (GHR). 2008; https://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome. Accessed 9/7/2011.
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