National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Aarskog syndrome


Other Names:
Aarskog Scott syndrome; Faciodigitogenital syndrome; Faciogenital dysplasia; Aarskog Scott syndrome; Faciodigitogenital syndrome; Faciogenital dysplasia; Aarskog disease; FGDY; Scott Aarskog syndrome See More
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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]
Last updated: 9/7/2011

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.

Showing of 70 |
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
Wide palm
Broad hands
Broad hand
[ 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
Widely spaced eyes
Wide-set 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 nostrils
Upturned nose
Upturned nasal tip
Nasal tip, upturned
[ 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
Brachydactyly
Short fingers or toes
0001156
Cervical spine hypermobility 0003318
Clinodactyly
Permanent curving of the finger
0030084
Curved linear dimple below the lower lip 0002055
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] 		0000823
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Hyperextensibility of the finger joints
Finger joint hyperextensibility
Hyperextensible digits
Hyperextensible finger
[ more ] 		0001187
Hypermetropia
Farsightedness
Long-sightedness
[ more ] 		0000540
Hypodontia
Failure of development of between one and six teeth
0000668
Hypoplasia of the odontoid process 0003311
Increased upper to lower segment ratio 0012774
Large earlobe
Fleshy earlobe
Fleshy earlobes
Prominent ear lobes
prominent ear lobules
[ more ] 		0009748
Mild short stature 0003502
Radial deviation of finger 0009466
Scoliosis 0002650
Syndactyly
Webbed fingers or toes
0001159
Widow's peak
Hairline peak
Hairline point
Pointed hairline at front of head
V-shaped frontal hairline
[ more ] 		0000349
X-linked recessive inheritance 0001419
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Last updated: 7/1/2020
Aarskog syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause Aarskog syndrome. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. X-linked recessive conditions are unique in that fathers cannot pass X-linked traits to their sons and all daughters of an affected male will be carriers.[2]
Last updated: 9/7/2011

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.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

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.

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

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

  • Genetics Home Reference (GHR) contains information on Aarskog syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I have read that Aarskog syndrome is only expressed in boys and that girls are  carriers. Is this true?  See answer


  1. Aarskog syndrome. MedlinePlus. 2010; http://www.nlm.nih.gov/medlineplus/ency/article/001654.htm. Accessed 9/7/2011.
  2. Aarskog-Scott syndrome. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome. Accessed 9/7/2011.