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 |
---|---|---|
100% of people have these symptoms | ||
Short fingers or toes
|
0001156 | |
Finger |
0006101 | |
Toe syndactyly |
Fused toes
Webbed toes
[ more ]
|
0001770 |
80%-99% of people have these symptoms | ||
Craniosynostosis | 0001363 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
External genital hypoplasia |
Underdevelopment of external reproductive organs
|
0003241 |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 |
Obesity |
Having too much body fat
|
0001513 |
Oxycephaly | 0000263 | |
30%-79% of people have these symptoms | ||
Abnormal cornea morphology | 0000481 | |
Broad thumb |
Broad thumbs
Wide/broad thumb
[ more ]
|
0011304 |
Cloverleaf skull | 0002676 | |
Genu valgum |
Knock knees
|
0002857 |
Postaxial hand |
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ]
|
0001162 |
Preaxial foot polydactyly | 0001841 | |
5%-29% of people have these symptoms | ||
Kyphoscoliosis | 0002751 | |
Patent ductus arteriosus | 0001643 | |
Polysplenia |
Multiple small spleens
|
0001748 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
Umbilical hernia | 0001537 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ]
|
0000377 |
Agenesis of permanent teeth |
Failure of development of permanent teeth
Missing teeth
[ more ]
|
0006349 |
Aplasia/Hypoplasia of the |
0007370 | |
Aplasia/Hypoplasia of the middle phalanges of the hand |
Absent/small middle finger bone of the hand
Absent/underdeveloped middle finger bone of the hand
[ more ]
|
0009843 |
Aplasia/Hypoplasia of the middle phalanges of the toes |
Absent/small middle bones of toe
Absent/underdeveloped middle bones of toe
[ more ]
|
0010194 |
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 |
0000007 | ||
Brachycephaly |
Short and broad skull
|
0000248 |
Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Complete |
Complete duplication of the innermost bone of the thumb
|
0009608 |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
Coronal craniosynostosis | 0004440 | |
Coxa valga | 0002673 | |
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 |
Duplication of the proximal phalanx of the hallux |
Duplication of the innermost bone of big toe
|
0010093 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
Flared iliac wings | 0002869 | |
Genu varum |
Outward bow-leggedness
Outward bowing at knees
[ more ]
|
0002970 |
High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
Hydronephrosis | 0000126 | |
Hydroureter | 0000072 | |
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 |
Joint |
0009473 | |
Lambdoidal craniosynostosis | 0004443 | |
Large foramen magnum |
Big foramen magnum
|
0002700 |
Lateral displacement of patellae | 0006397 | |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Metatarsus adductus |
Front half of foot turns inward
|
0001840 |
Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
Omphalocele | 0001539 | |
Opacification of the corneal stroma | 0007759 | |
Optic atrophy | 0000648 | |
Persistence of primary teeth |
Delayed loss of baby teeth
Failure to lose baby teeth
Retained baby teeth
[ more ]
|
0006335 |
Preauricular pit |
Pit in front of the ear
|
0004467 |
Precocious puberty |
Early onset of puberty
Early puberty
[ more ]
|
0000826 |
Pseudoepiphyses of the proximal phalanges of the hand | 0010275 | |
Pulmonic stenosis |
Narrowing of pulmonic valve
|
0001642 |
Sacral dimple |
Spinal dimple
|
0000960 |
Sagittal craniosynostosis |
Early closure of midline skull joint
Midline skull joint closes early
[ more ]
|
0004442 |
0002650 | ||
Sensorineural hearing impairment | 0000407 | |
Shallow acetabular fossae | 0003182 | |
Short neck |
Decreased length of neck
|
0000470 |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Spina bifida occulta | 0003298 | |
Telecanthus |
Corners of eye widely separated
|
0000506 |
Tetralogy of Fallot | 0001636 | |
Transposition of the great arteries | 0001669 | |
Underdeveloped supraorbital ridges |
Flattened bony protrusion above eyes
|
0009891 |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
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.
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.
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 would like to have some information about Carpenter syndrome. I can find information about the physical aspects of the syndrome. Are there are certain behavioral characteristics? See answer