Rare Pediatrics News
Disease Profile
SCARF 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.
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
Other names (AKA)
Skeletal abnormalities, Cutis laxa, craniostenosis, Ambiguous genitalia, Retardation, and Facial abnormalities
Categories
Congenital and Genetic Diseases; Digestive Diseases; Lung Diseases;
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 3134
Definition
SCARF syndrome is characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive .
Visit the Orphanet disease page for more resources.
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
|
|---|---|---|
| 30%-79% of people have these symptoms | ||
| Abnormal form of the vertebral bodies | 0003312 | |
| Bifid scrotum |
Cleft of scrotum
|
0000048 |
| Coarse facial features |
Coarse facial appearance
|
0000280 |
| 0001363 | ||
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
| Cutis laxa |
Loose and inelastic skin
|
0000973 |
| Diastasis recti |
Gap between large left and right abdominal muscles
|
0001540 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
| Hepatocellular adenoma | 0012028 | |
| Hypocalcification of dental enamel |
Decreased enamel calcification
Poorly calcified tooth enamel
[ more ] |
0011084 |
| Hypoplasia of dental enamel |
Underdeveloped teeth enamel
|
0006297 |
| Inguinal hernia | 0000023 | |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 | |
| Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
| Long philtrum | 0000343 | |
| Low posterior hairline |
Low hairline at back of neck
|
0002162 |
| Low-set, posteriorly rotated ears | 0000368 | |
| Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| Perineal hypospadias | 0000051 | |
|
Drooping upper eyelid
|
0000508 | |
| Short neck |
Decreased length of neck
|
0000470 |
| Short sternum | 0000879 | |
| Sparse hair | 0008070 | |
|
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
| Umbilical hernia | 0001537 | |
| Webbed neck |
Neck webbing
|
0000465 |
| Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ] |
0006610 |
| Wide nasal base |
Broad base of nose
Broad nasal base
Increased width of base of nose
Increased width of nasal base
Wide base of nose
[ more ] |
0012810 |
| 5%-29% of people have these symptoms | ||
| Hypoplastic nipples |
Small nipples
|
0002557 |
| Intellectual disability, moderate |
IQ between 34 and 49
|
0002342 |
| Percent of people who have these symptoms is not available through HPO | ||
| Barrel-shaped chest |
Barrel chest
|
0001552 |
| Coronal craniosynostosis | 0004440 | |
| Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
| Lambdoidal craniosynostosis | 0004443 | |
| Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ] |
0000294 |
| Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ] |
0000426 |
| Short chin |
Decreased height of chin
Short lower third of face
[ more ] |
0000331 |
| Thickened nuchal skin fold |
Thickened skin folds of neck
Thickened skin over the neck
[ more ] |
0000474 |
| 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 |
| 0001419 | ||
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.
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 SCARF syndrome. Click on the link to view a sample search on this topic.