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 pubic bone |
Abnormality of the pubic bones
Abnormality of the pubis
[ more ]
|
0003172 |
Abnormality of the ribs |
Rib abnormalities
|
0000772 |
Brachydactyly |
Short fingers or toes
|
0001156 |
Craniofacial hyperostosis |
Excessive bone growth of the skull and face
|
0004493 |
Global |
0001263 | |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
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 |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
Large iliac wings | 0008818 | |
Mandibular prognathia |
Increased size of lower jaw
Increased projection of lower jaw
Big lower jaw
Prominent lower jaw
Prominent chin
Large lower jaw
[ more ]
|
0000303 |
Midface retrusion |
Decreased size of midface
Underdevelopment of midface
Midface deficiency
[ more ]
|
0011800 |
Narrow mouth |
Small mouth
|
0000160 |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Severe short stature |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ]
|
0003510 |
Short palm | 0004279 | |
Skeletal muscle hypertrophy |
Increased skeletal muscle cells
|
0003712 |
Specific learning disability | 0001328 | |
Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ]
|
0000233 |
30%-79% of people have these symptoms | ||
Abnormal cardiac septum morphology | 0001671 | |
Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Cryptorchidism |
Undescended testis
Undescended testes
[ more ]
|
0000028 |
EMG abnormality | 0003457 | |
High hypermetropia |
Severe farsightedness
Severe long-sightedness
[ more ]
|
0008499 |
Hypertension | 0000822 | |
Drooping upper eyelid
|
0000508 | |
Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
Thickened skin |
Thick skin
|
0001072 |
5%-29% of people have these symptoms | ||
0001251 | ||
Behavioral abnormality |
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ]
|
0000708 |
Bifid uvula | 0000193 | |
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
Epispadias | 0000039 | |
External genital hypoplasia |
Underdevelopment of external reproductive organs
|
0003241 |
Femoral hernia | 0100541 | |
Gingival cleft | 0030690 | |
Decreased activity of gonads
|
0000135 | |
Hypospadias | 0000047 | |
Inguinal hernia | 0000023 | |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Precocious puberty |
Early onset of puberty
Early puberty
[ more ]
|
0000826 |
Respiratory failure | 0002878 | |
Submucous cleft hard palate | 0000176 | |
Unilateral |
One sided cleft upper lip
|
0100333 |
1%-4% of people have these symptoms | ||
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 |
0000717 | ||
Birth length less than 3rd percentile | 0003561 | |
Broad ribs |
Wide ribs
|
0000885 |
Cleft lip | 0410030 | |
Cleft roof of mouth
|
0000175 | |
Hypoplastic iliac wing | 0002866 | |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
Narrow palpebral fissure |
Small opening between the eyelids
|
0045025 |
Obesity |
Having too much body fat
|
0001513 |
Short philtrum | 0000322 | |
Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ]
|
0001518 |
Stiff skin | 0030053 | |
Thickened calvaria |
Increased thickness of skull cap
Thickened skull cap
[ more ]
|
0002684 |
Thin upper lip vermilion |
Thin upper lip
|
0000219 |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Percent of people who have these symptoms is not available through HPO | ||
2-3 toe |
Webbed 2nd and 3rd toes
|
0004691 |
Abnormality of the voice |
Voice abnormality
|
0001608 |
Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
0000006 | ||
Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
Clinodactyly |
Permanent curving of the finger
|
0030084 |
Coarctation of aorta |
Narrowing of aorta
Narrowing of the aorta
[ more ]
|
0001680 |
Cone-shaped epiphysis |
Cone-shaped end part of bone
|
0010579 |
Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
|
0000490 |
Enlarged vertebral pedicles | 0004621 | |
Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ]
|
0002213 |
Generalized muscle hypertrophy |
Generalized increase in muscle cell size
|
0003720 |
Hypermetropia |
Farsightedness
Long-sightedness
[ more ]
|
0000540 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Laryngotracheal stenosis | 0004894 | |
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ]
|
0001376 |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Microtia |
Small ears
Underdeveloped ears
[ more ]
|
0008551 |
Overlapping toe |
Overlapping toes
Overriding toes
[ more ]
|
0001845 |
Patent ductus arteriosus | 0001643 | |
Pericardial effusion |
Fluid around heart
|
0001698 |
Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ]
|
0000426 |
Radial deviation of finger | 0009466 | |
0001250 | ||
Short finger |
Stubby finger
|
0009381 |
Short long bone |
Long bone shortening
|
0003026 |
Short neck |
Decreased length of neck
|
0000470 |
Short stature |
Decreased body height
Small stature
[ more ]
|
0004322 |
Short toe |
Short toes
Stubby toes
[ more ]
|
0001831 |
Sparse hair | 0008070 | |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ]
|
0000574 |
Vertebral fusion |
Spinal fusion
|
0002948 |
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
My 2 1/2 year old daughter has just been diagnosed with Mhyre syndrome. Could you provide me with information about this condition? Is there anything we should be aware of for later in life? See answer