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Disease Profile
Costello 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
Neonatal
ICD-10
Q87.8
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)
Faciocutaneoskeletal syndrome; FCS syndrome
Categories
Congenital and Genetic Diseases; Heart Diseases; Nervous System Diseases;
Summary
Costello
Costello syndrome belongs to a group of related conditions called the RASopathies. These conditions have some overlapping features and are all caused by genetic changes that disrupt the body's RAS pathway, affecting growth and development. The features of Costello syndrome overlap significantly with two of the RASopathies, cardiofaciocutaneous (CFC) syndrome and Noonan syndrome.
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 | |||
Abnormal fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ] |
0001231 | |
Darkened and thickened skin
|
0000956 | ||
Concave nail |
Spoon-shaped nails
|
0001598 | |
Deep-set nails | 0001814 | ||
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 | |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 | |
Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ] |
0001531 | |
Hyperkeratosis | 0000962 | ||
Lack of skin elasticity | 0100679 | ||
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 | |
Narrow palate |
Narrow roof of mouth
|
0000189 | |
Pulmonic stenosis |
Narrowing of pulmonic valve
|
0001642 | |
Redundant skin |
Loose redundant skin
Redundant skin folds
Sagging, redundant skin
[ more ] |
0001582 | |
Short neck |
Decreased length of neck
|
0000470 | |
Decreased body height
Small stature
[ more ] |
0004322 | ||
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 | |
Woolly hair |
Kinked hair
|
0002224 | |
30%-79% of people have these symptoms | |||
Abnormal dermatoglyphics |
Abnormal fingerprints
|
0007477 | |
Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ] |
0000682 | |
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 | |
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] |
0000293 | |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 | |
Hypertrophic |
Enlarged and thickened heart muscle
|
0001639 | |
Hypoplastic toenails |
Underdeveloped toenails
|
0001800 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | ||
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 | |
Keratoconus |
Bulging cornea
|
0000563 | |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ] |
0000158 | |
Mitral valve prolapse | 0001634 | ||
Papilloma | 0012740 | ||
Polyhydramnios |
High levels of amniotic fluid
|
0001561 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | ||
Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ] |
0000179 | |
Thickened Achilles tendon | 0004690 | ||
Thickened nuchal skin fold |
Thickened skin folds of neck
Thickened skin over the neck
[ more ] |
0000474 | |
Ulnar deviation of finger |
Finger bends toward pinky
|
0009465 | |
5%-29% of people have these symptoms | |||
Coarse facial features |
Coarse facial appearance
|
0000280 | |
Generalized hyperpigmentation | 0007440 | ||
Large earlobe |
Fleshy earlobe
Fleshy earlobes
Prominent ear lobes
prominent ear lobules
[ more ] |
0009748 | |
Large face |
Big face
|
0100729 | |
Low-set, posteriorly rotated ears | 0000368 | ||
Poor suck |
Poor sucking
|
0002033 | |
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ] |
0000083 | |
Percent of people who have these symptoms is not available through HPO | |||
Achilles tendon |
Shortening of the achilles tendon
Tight achilles tendon
[ more ] |
0001771 | |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 | |
Arnold-Chiari type I malformation | 0007099 | ||
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] |
0011675 | |
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 | |
0000006 | |||
Barrel-shaped chest |
Barrel chest
|
0001552 | |
Bladder carcinoma | 0002862 | ||
Bronchomalacia | 0002780 | ||
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 | |
Curly hair |
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
Related diseasesRelated 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.
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
References
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