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 | ||
| Abnormal diaphysis morphology |
Abnormal shape of shaft of long bone
Abnormality of shaft of long bone of the limbs
[ more ]
|
0000940 |
| Abnormal form of the vertebral bodies | 0003312 | |
| 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 |
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
|
Short fingers or toes
|
0001156 | |
| Broad finger |
Broad fingers
Wide fingers
[ more ]
|
0001500 |
| Coarse facial features |
Coarse facial appearance
|
0000280 |
| Craniofacial hyperostosis |
Excessive bone growth of the skull and face
|
0004493 |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| 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 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ]
|
0000232 |
| Frontal bossing | 0002007 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
| Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
| Large hands |
large hand
|
0001176 |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ]
|
0002167 |
| Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ]
|
0000194 |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| Pectus excavatum |
Funnel chest
|
0000767 |
| 0002650 | ||
| Severe global |
0011344 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Tapered finger |
Tapered fingertips
Tapering fingers
[ more ]
|
0001182 |
| Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
|
0000179 |
| Thick nasal alae | 0009928 | |
| Widely spaced teeth |
Wide-spaced teeth
Widely-spaced teeth
[ more ]
|
0000687 |
| 30%-79% of people have these symptoms | ||
| Feeding difficulties in infancy | 0008872 | |
| Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
|
0001288 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hyperconvex fingernails | 0001812 | |
| 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 |
| Hypoplastic fingernail |
Small fingernail
Underdeveloped fingernail
[ more ]
|
0001804 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Narrow iliac wings | 0002868 | |
| Narrow palate |
Narrow roof of mouth
|
0000189 |
| Pes planus |
Flat feet
Flat foot
[ more ]
|
0001763 |
| Progressive |
0002191 | |
| Protruding ear |
Prominent ear
Prominent ears
[ more ]
|
0000411 |
| Pseudoepiphyses of the metacarpals | 0009193 | |
| Redundant skin |
Loose redundant skin
Redundant skin folds
Sagging, redundant skin
[ more ]
|
0001582 |
| Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
| Short metacarpal |
Shortened long bone of hand
|
0010049 |
| Ventriculomegaly | 0002119 | |
| Wide mouth |
Broad mouth
Large mouth
[ more ]
|
0000154 |
| Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ]
|
0000445 |
| 5%-29% of people have these symptoms | ||
| Abnormal aortic valve morphology | 0001646 | |
| Abnormal mitral valve morphology | 0001633 | |
| Abnormal tricuspid valve morphology | 0001702 | |
| Abnormality of neuronal migration | 0002269 | |
| Abnormality of retinal pigmentation | 0007703 | |
| Advanced eruption of teeth |
Early eruption of teeth
|
0006288 |
| Aplasia/Hypoplasia of the cerebellum |
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ]
|
0007360 |
| Aplasia/Hypoplasia of the |
0007370 | |
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
| Death in early adulthood | 0100613 | |
| Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
| Muscle weakness |
Muscular weakness
|
0001324 |
| Optic atrophy | 0000648 | |
| 0001250 | ||
| Self-injurious behavior |
Self-injurious behaviour
|
0100716 |
| Sensorineural hearing impairment | 0000407 | |
| Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
| Sleep apnea |
Pauses in breathing while sleeping
|
0010535 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal hair morphology |
Abnormality of the hair
Hair abnormality
[ more ]
|
0001595 |
| Abnormality of the nasal alae | 0000429 | |
| Acrocyanosis |
Persistent blue color of hands, feet, or parts of face
|
0001063 |
| Bifid sternum | 0010309 | |
| Broad palm |
Broad hand
Broad hands
Wide palm
[ more ]
|
0001169 |
| Coarse hair |
Coarse hair texture
|
0002208 |
| Coxa valga | 0002673 | |
| Cutis laxa |
Loose and inelastic skin
|
0000973 |
| Cutis marmorata | 0000965 | |
| Decreased body weight |
Decreased weight
Low body weight
Low weight
Weight less than 3rd percentile
[ more ]
|
0004325 |
| Delayed closure of the anterior fontanelle |
Later than typical closing of soft spot of skull
|
0001476 |
| Dental malocclusion |
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ]
|
0000689 |
| Drumstick terminal phalanges |
Drumstick shaped digital bones
|
0006129 |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ]
|
0002553 |
| Hyperextensibility of the finger joints |
Finger joint hyperextensibility
Hyperextensible digits
Hyperextensible finger
[ more ]
|
0001187 |
| Inguinal hernia | 0000023 | |
| Lumbar kyphosis |
Rounded lower back
|
0008454 |
| 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 |
| Mitral regurgitation | 0001653 | |
| Prominent supraorbital ridges |
Prominent brow
|
0000336 |
| Rectal prolapse |
Rectum protrudes through anus
|
0002035 |
| Single transverse palmar crease | 0000954 | |
| Sporadic |
No previous family history
|
0003745 |
| Telecanthus |
Corners of eye widely separated
|
0000506 |
| Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ]
|
0000574 |
| Thick nasal septum |
Broad nasal septum
Broad septum of nose
Thick septum of nose
Wide nasal septum
Wide septum of nose
[ more ]
|
0009746 |
| Thickened calvaria |
Increased thickness of skull cap
Thickened skull cap
[ more ]
|
0002684 |
| Uterine prolapse |
Sagging uterus
|
0000139 |
| 0001423 | ||
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 diagnosis includes alpha-thalassemia-intellectual deficit, Borjeson-Forssman-Lehmann syndrome, FG syndrome, Williams syndrome, and Pitt-Hopkins 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.
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. Submit a new question
I have a 7-year-old son with Coffin-Lowry syndrome. Are there any foods or supplements that have been shown to benefit people with Coffin-Lowry syndrome? How might Coffin-Lowry be treated? Thanks for your help. See answer
