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 | ||
| Cachexia |
Wasting syndrome
|
0004326 |
| Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ]
|
0002714 |
| Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ]
|
0000232 |
| Hypohidrosis |
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ]
|
0000966 |
|
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 | |
| Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
| Long philtrum | 0000343 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
|
Drooping upper eyelid
|
0000508 | |
| Reduced tendon reflexes | 0001315 | |
| Short neck |
Decreased length of neck
|
0000470 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Sparse and thin eyebrow |
Thin, sparse eyebrows
|
0000535 |
| Sparse hair | 0008070 | |
| Thick upper lip vermilion |
Full upper lip
Increased volume of upper lip
Plump upper lip
Prominent upper lip
Thick upper lip
[ more ]
|
0000215 |
| Thin upper lip vermilion |
Thin upper lip
|
0000219 |
| 30%-79% of people have these symptoms | ||
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| Coarse facial features |
Coarse facial appearance
|
0000280 |
| Frontal bossing | 0002007 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
| Telecanthus |
Corners of eye widely separated
|
0000506 |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
| 5%-29% of people have these symptoms | ||
| Abnormal soft palate morphology | 0100736 | |
| Anal atresia |
Absent anus
|
0002023 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Anal stenosis |
Narrowing of anal opening
|
0002025 |
| Anhidrosis |
Lack of sweating
Sweating dysfunction
[ more ]
|
0000970 |
| Anteriorly placed anus | 0001545 | |
| Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
| Aplasia of the upper vagina |
Absent upper vagina
|
0012673 |
| Aplasia of the uterus |
Absent uterus
uterus absent
[ more ]
|
0000151 |
| 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 |
| Bifid uvula | 0000193 | |
| Broad foot |
Broad feet
Wide foot
[ more ]
|
0001769 |
| Broad palm |
Broad hand
Broad hands
Wide palm
[ more ]
|
0001169 |
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Coarctation of aorta |
Narrowing of aorta
Narrowing of the aorta
[ more ]
|
0001680 |
| 0000776 | ||
| Congenital hip dislocation |
Dislocated hip since birth
|
0001374 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| 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 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
| Flexion |
Flexed joint that cannot be straightened
|
0001371 |
| Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ]
|
0000293 |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Hyperpigmented streaks | 0007572 | |
| Hypertonia | 0001276 | |
| Hypertrophic |
Enlarged and thickened heart muscle
|
0001639 |
| Hyperventilation |
Rapid breathing
|
0002883 |
| Hypopigmented streaks | 0007535 | |
| Hypoplastic labia majora |
Small labia majora
Underdeveloped vaginal lips
[ more ]
|
0000059 |
| Hypospadias | 0000047 | |
| Inguinal hernia | 0000023 | |
| Intellectual disability, profound |
IQ less than 20
|
0002187 |
| Intestinal malrotation | 0002566 | |
| Kyphoscoliosis | 0002751 | |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
| Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ]
|
0000158 |
| Macrotia |
Large ears
|
0000400 |
| Mesomelia |
Disproportionately short middle portion of limb
|
0003027 |
| Mesomelic/rhizomelic limb shortening | 0005026 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
| Obesity |
Having too much body fat
|
0001513 |
| Omphalocele | 0001539 | |
| Patent ductus arteriosus | 0001643 | |
| Postaxial foot |
Extra toe attached near the little toe
|
0001830 |
| Postaxial hand polydactyly |
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ]
|
0001162 |
| Postnatal |
0005484 | |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
| Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ]
|
0002089 |
| Renal cyst |
Kidney cyst
|
0000107 |
| Renal dysplasia | 0000110 | |
| 0001250 | ||
| Short phalanx of finger |
Short finger bones
|
0009803 |
| Short toe |
Short toes
Stubby toes
[ more ]
|
0001831 |
| Single transverse palmar crease | 0000954 | |
| Small scrotum |
Underdeveloped scrotum
|
0030276 |
| Somatic mosaicism | 0001442 | |
| Sparse anterior scalp hair |
Sparse scalp hair at front of head
Thin scalp hair at front of head
[ more ]
|
0004768 |
| Sparse eyelashes |
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ]
|
0000653 |
| Stenosis of the external auditory canal |
Narrowing of passageway from outer ear to middle ear
|
0000402 |
| Stillbirth |
Stillborn
|
0003826 |
| Supernumerary nipple |
Accessory nipple
|
0002558 |
| Umbilical hernia | 0001537 | |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| 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 |
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
|
|---|
|
Differential diagnoses include trisomy 12p and Fryns syndrome (see these terms). Antenatal diagnosis may be possible through ultrasound examination revealing abnormal findings such as diaphragmatic hernia, polyhydramnios, hydrops fetalis, cardiac malformations, short limbs, and other, leading to amniocentesis and chromosomal diagnosis.
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
