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Disease Profile

Aarskog syndrome

Prevalence
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

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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Not applicable

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Other names (AKA)

Aarskog Scott syndrome; Faciodigitogenital syndrome; Faciogenital dysplasia;

Categories

Congenital and Genetic Diseases; Kidney and Urinary Diseases; Nervous System Diseases;

Summary

Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face.[1] Intellectual development may also be affected. About 20 percent of people with Aarskog-Scott syndrome have mutations in the FGD1 gene. The cause in other affected individuals is unknown. The condition is inherited in an X-linked recessive pattern.[1][2]

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.

Diagnosis

Making 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

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
    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
    Short stature
    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 syndactyly
    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
    Ptosis
    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 palate
    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
    Strabismus
    Cross-eyed
    Squint
    Squint eyes

    [ more ]

    0000486
    Talipes
    0001883
    1%-4% of people have these symptoms
    Broad philtrum
    0000289
    Global developmental delay
    0001263
    Intellectual disability, mild
    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

      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

          1. Aarskog syndrome. MedlinePlus. 2010; https://www.nlm.nih.gov/medlineplus/ency/article/001654.htm. Accessed 9/7/2011.
          2. 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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