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.
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 | 0002212 | |
| Deep palmar crease |
Deep palm line
|
0006191 |
| Deep plantar creases |
Deep wrinkles in soles of feet
|
0001869 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Enlarged cerebellum | 0012081 | |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Fragile nails |
Brittle nails
|
0001808 |
| Global |
0001263 | |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hoarse voice |
Hoarseness
Husky voice
[ more ]
|
0001609 |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Hyperextensibility of the finger joints |
Finger joint hyperextensibility
Hyperextensible digits
Hyperextensible finger
[ more ]
|
0001187 |
| Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
|
Low blood sugar
|
0001943 | |
| Limited elbow movement |
Decreased elbow mobility
Limited elbow mobility
Restricted elbow motion
[ more ]
|
0002996 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Lymphangiectasis | 0031842 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Nevus |
Mole
|
0003764 |
| Obstructive sleep apnea | 0002870 | |
| Overgrowth |
General overgrowth
|
0001548 |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| Pneumothorax |
Collapsed lung
|
0002107 |
| Pointed chin |
Pointy chin
Small pointed chin
Witch's chin
[ more ]
|
0000307 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ]
|
0001622 |
|
Drooping upper eyelid
|
0000508 | |
| Pyloric stenosis | 0002021 | |
| Redundant neck skin |
Excess neck skin
Excess skin over the neck
Redundant skin folds of neck
Redundant skin over the neck
[ more ]
|
0005989 |
| Respiratory failure | 0002878 | |
| Respiratory insufficiency |
Respiratory impairment
|
0002093 |
| Rhabdomyosarcoma | 0002859 | |
| Sparse hair | 0008070 | |
| Sporadic |
No previous family history
|
0003745 |
| Sudden death | 0001699 | |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
| Thin nail |
Thin nails
|
0001816 |
| Tracheomalacia |
Floppy windpipe
|
0002779 |
| Ventriculomegaly | 0002119 | |
| Vestibular Schwannoma | 0009588 | |
| Webbed neck |
Neck webbing
|
0000465 |
| Wide anterior fontanel |
Wider-than-typical soft spot of skull
|
0000260 |
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.
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.
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
|
|---|
|
Costello syndrome shows significant clinical overlap with Noonan syndrome and cardiofaciocutaneous syndrome, which are also RASopathies. Other disorders to consider include Beckwith-Wiedemann, Noonan syndrome with multiple lentigines (formerly known as LEOPARD syndrome) and Simpson-Golabi-Behmel syndromes.
Visit the
Orphanet disease page
for more information.
|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
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.
NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020
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