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 dental morphology |
Abnormality of dental shape
Abnormally shaped teeth
Deformity of teeth
Dental deformity
Dental malformations
Malformed teeth
Misshapen teeth
Misshapened teeth
[ more ]
|
0006482 |
| Decreased circulating |
0004313 | |
| Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
| 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 |
| External ear malformation | 0008572 | |
| Flat face |
Flat facial shape
|
0012368 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Increased number of teeth |
Extra teeth
Increased tooth count
Supplemental teeth
[ more ]
|
0011069 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Lymphangioma | 0100764 | |
| Lymphedema |
Swelling caused by excess lymph fluid under skin
|
0001004 |
| Lymphopenia |
Decreased blood lymphocyte number
Low lymphocyte number
[ more ]
|
0001888 |
| Malabsorption |
Intestinal malabsorption
|
0002024 |
| Mild postnatal growth retardation | 0001530 | |
| Reduced number of teeth |
Decreased tooth count
|
0009804 |
| 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 |
| 30%-79% of people have these symptoms | ||
| Ascites |
Accumulation of fluid in the abdomen
|
0001541 |
| Broad forehead |
Increased width of the forehead
Wide forehead
[ more ]
|
0000337 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Erysipelas | 0001055 | |
| Gingival overgrowth |
Gum enlargement
|
0000212 |
| 0000501 | ||
| Lymphadenopathy |
Swollen lymph nodes
|
0002716 |
| Narrow chest |
Low chest circumference
Narrow shoulders
[ more ]
|
0000774 |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
| 0001250 | ||
| Splenomegaly |
Increased spleen size
|
0001744 |
| 5%-29% of people have these symptoms | ||
| Abnormality of the foot |
Abnormal feet morphology
Abnormality of the feet
Foot deformities
Foot deformity
[ more ]
|
0001760 |
| Arteriovenous malformation | 0100026 | |
| Benign |
0100835 | |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Chylothorax | 0010310 | |
| Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
| 0001363 | ||
| Ectopic kidney |
Abnormal kidney location
Displaced kidney
[ more ]
|
0000086 |
| Finger |
0006101 | |
| Horseshoe kidney |
Horseshoe kidneys
|
0000085 |
| Hydrops fetalis | 0001789 | |
| Hypocalcemia |
Low blood calcium levels
|
0002901 |
| Narrow mouth |
Small mouth
|
0000160 |
| Pachygyria |
Fewer and broader ridges in brain
|
0001302 |
| Pericardial effusion |
Fluid around heart
|
0001698 |
| Pulmonary lymphangiectasia | 0006521 | |
| Pyloric stenosis | 0002021 | |
| Respiratory insufficiency |
Respiratory impairment
|
0002093 |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
| Short philtrum | 0000322 | |
| Sparse axillary hair |
Limited armpit hair
Little underarm hair
[ more ]
|
0002215 |
| Percent of people who have these symptoms is not available through HPO | ||
| 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 | ||
| Bilateral single transverse palmar creases | 0007598 | |
| Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
| Conical incisor |
Cone shaped front tooth
Shark tooth incisor
[ more ]
|
0011065 |
| Coronal craniosynostosis | 0004440 | |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Cutaneous finger syndactyly |
Webbed fingers
Webbed skin of fingers
[ more ]
|
0010554 |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| Hirsutism |
Excessive hairiness
|
0001007 |
| Hydronephrosis | 0000126 | |
| Hyperactivity |
More active than typical
|
0000752 |
| Hypoalbuminemia |
Low blood albumin
|
0003073 |
| Hypoplastic iliac wing | 0002866 | |
| Intestinal lymphangiectasia | 0002593 | |
| Joint |
0009473 | |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Narrow palate |
Narrow roof of mouth
|
0000189 |
| Oligodontia |
Failure of development of more than six teeth
|
0000677 |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Pericardial lymphangiectasia | 0005183 | |
| Periorbital edema | 0100539 | |
| Pleural effusion |
Fluid around lungs
|
0002202 |
| Pleural lymphangiectasia | 0006531 | |
| 0002243 | ||
| Rectal prolapse |
Rectum protrudes through anus
|
0002035 |
| 0002650 | ||
| Sensorineural hearing impairment | 0000407 | |
| Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
| Short palm | 0004279 | |
| Small hand |
Disproportionately small hands
|
0200055 |
| Smooth philtrum | 0000319 | |
| Spina bifida occulta | 0003298 | |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
| Thyroid lymphangiectasia | 0008229 | |
| Umbilical hernia | 0001537 | |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| Vesicoureteral reflux | 0000076 | |
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
|
|---|
|
The differential diagnosis should include other rare syndromes associated with congenital lymphoedema such ascholestasis-lymphoedema syndrome, as well as Noonan 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.
