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 | ||
Abnormality of the ribs |
Rib abnormalities
|
0000772 |
Broad foot |
Broad feet
Wide foot
[ more ]
|
0001769 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Increased circulating IgE level | 0003212 | |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ]
|
0000158 |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ]
|
0000303 |
Multicystic kidney dysplasia | 0000003 | |
Postaxial hand |
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ]
|
0001162 |
Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
Short toe |
Short toes
Stubby toes
[ more ]
|
0001831 |
Splenomegaly |
Increased spleen size
|
0001744 |
Supernumerary nipple |
Accessory nipple
|
0002558 |
Tall stature |
Increased body height
|
0000098 |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Vertebral fusion |
Spinal fusion
|
0002948 |
Wide mouth |
Broad mouth
Large mouth
[ more ]
|
0000154 |
30%-79% of people have these symptoms | ||
Abnormality of the helix | 0011039 | |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
Aplasia/Hypoplasia of the abdominal wall musculature |
Absent/small abdominal wall muscles
Absent/underdeveloped abdominal wall muscles
[ more ]
|
0010318 |
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 |
Broad thumb |
Broad thumbs
Wide/broad thumb
[ more ]
|
0011304 |
Bundle branch block | 0011710 | |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Cleft roof of mouth
|
0000175 | |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Death in infancy |
Infantile death
Lethal in infancy
[ more ]
|
0001522 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Finger |
0006101 | |
High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ]
|
0002705 |
Hydronephrosis | 0000126 | |
Hydroureter | 0000072 | |
Low blood sugar
|
0001943 | |
Inguinal hernia | 0000023 | |
Low-set, posteriorly rotated ears | 0000368 | |
Nail dysplasia |
Atypical nail growth
|
0002164 |
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ]
|
0002167 |
Omphalocele | 0001539 | |
Pectus excavatum |
Funnel chest
|
0000767 |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Prolonged QT interval | 0001657 | |
0002650 | ||
Short 2nd finger |
Short index finger
Short index fingers
[ more ]
|
0009536 |
Short neck |
Decreased length of neck
|
0000470 |
Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
Small nail |
Small nails
|
0001792 |
Toe syndactyly |
Fused toes
Webbed toes
[ more ]
|
0001770 |
Umbilical hernia | 0001537 | |
Ureteral |
Double ureter
|
0000073 |
Webbed neck |
Neck webbing
|
0000465 |
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 | ||
Accelerated skeletal maturation |
Advanced bone age
Early bone maturation
[ more ]
|
0005616 |
Agenesis of |
0001274 | |
Disease of the heart muscle
|
0001638 | |
Cleft upper lip |
Harelip
|
0000204 |
0000776 | ||
Congenital hip dislocation |
Dislocated hip since birth
|
0001374 |
Dandy-Walker malformation | 0001305 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
Global |
0001263 | |
Hepatoblastoma | 0002884 | |
Hoarse voice |
Hoarseness
Husky voice
[ more ]
|
0001609 |
Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
Hypospadias | 0000047 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Nephroblastoma | 0002667 | |
Neuroblastoma |
Cancer of early nerve cells
|
0003006 |
Pancreatic islet- |
0004510 | |
Polysplenia |
Multiple small spleens
|
0001748 |
0001250 | ||
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal lung lobation | 0002101 | |
Broad palm |
Broad hand
Broad hands
Wide palm
[ more ]
|
0001169 |
Broad toe |
Wide toe
|
0001837 |
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 |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
Narrow greater sciatic notch | 0003375 | |
Postaxial polydactyly | 0100259 | |
Posterior helix pit |
Indentation in back of outer ear
|
0008523 |
Short greater sciatic notch | 0003185 | |
Short palm | 0004279 | |
Vertebral segmentation defect | 0003422 |
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
|
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Differential diagnosis include overgrowth syndromes such as Beckwith-Wiedemann syndrome and Sotos syndrome, and additional disorders such as fragile X syndrome, Bannayan-Zonana syndrome, PTEN hamartoma tumor syndrome, Marshall syndrome, Nevo syndrome, mosaic trisomy 8 and Pallister-Killian 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.
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.