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 metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
| Accelerated skeletal maturation |
Advanced bone age
Early bone maturation
[ more ]
|
0005616 |
| Amenorrhea |
Abnormal absence of menstruation
|
0000141 |
| Coarse facial features |
Coarse facial appearance
|
0000280 |
| Diabetic ketoacidosis | 0001953 | |
| Facial hyperostosis |
Enlargment of the facial bones
Excessive growth of facial bones
Excessive growth of facial skeleton
Increase in size of the facial bones
Overgrowth of facial bones
Overgrowth of facial skeleton
Overgrowth of the facial bones
[ more ]
|
0005465 |
| Frontal bossing | 0002007 | |
| Growth |
0000845 | |
| High iliac wings | 0008808 | |
| Hyperhidrosis |
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ]
|
0000975 |
| Hypertrophic |
Enlarged and thickened heart muscle
|
0001639 |
| Increased circulating prolactin concentration | 0000870 | |
| Increased serum insulin-like growth factor 1 | 0030269 | |
| Large hands |
large hand
|
0001176 |
| Large iliac wings | 0008818 | |
| Left ventricular hypertrophy | 0001712 | |
| Long foot |
Disproportionately large feet
large feet
long feet
[ more ]
|
0001833 |
| 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 |
| Osteopetrosis |
Harder, denser, fracture-prone bones
|
0011002 |
| Pituitary growth hormone |
0011760 | |
| Premature pubarche |
Premature pubic hair growth
|
0012411 |
| Proportionate tall stature | 0011407 | |
| Rough bone trabeculation | 0100670 | |
| Thickened calvaria |
Increased thickness of skull cap
Thickened skull cap
[ more ]
|
0002684 |
| Type II |
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes
[ more ]
|
0005978 |
| 30%-79% of people have these symptoms | ||
| Bifid uvula | 0000193 | |
| Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
| Delayed cranial suture closure | 0000270 | |
| Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
| Flat occiput | 0005469 | |
| High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ]
|
0002705 |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 | |
| Large fontanelles |
Wide fontanelles
|
0000239 |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
| 0002650 | ||
| Submucous cleft hard palate | 0000176 | |
| 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 | ||
| Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
| Aphasia |
Difficulty finding words
Losing words
Loss of words
[ more ]
|
0002381 |
| Asymmetry of the thorax |
Asymmetric chest
|
0001555 |
| Brachycephaly |
Short and broad skull
|
0000248 |
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
| Coarctation of aorta |
Narrowing of aorta
Narrowing of the aorta
[ more ]
|
0001680 |
| Dysphasia | 0002357 | |
| Echolalia |
Echoing another person's speech
|
0010529 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Facial palsy |
Bell's palsy
|
0010628 |
| Flat face |
Flat facial shape
|
0012368 |
| Galactorrhea |
Spontaneous milk flow from breast
|
0100829 |
| Global |
0001263 | |
| Headache |
Headaches
|
0002315 |
| Hyperlordosis |
Prominent swayback
|
0003307 |
| Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Mutism |
Inability to speak
Muteness
[ more ]
|
0002300 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
| Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ]
|
0003510 |
| Specific learning disability | 0001328 | |
| Spina bifida occulta | 0003298 | |
| 1%-4% of people have these symptoms | ||
| Anal atresia |
Absent anus
|
0002023 |
| Anal stenosis |
Narrowing of anal opening
|
0002025 |
| Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ]
|
0000750 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Multicystic kidney dysplasia | 0000003 | |
| Omphalocele | 0001539 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Apnea | 0002104 | |
| Arachnodactyly |
Long slender fingers
Spider fingers
[ more ]
|
0001166 |
| 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 ribs |
Wide ribs
|
0000885 |
| Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
| Cleft upper lip |
Harelip
|
0000204 |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Craniofacial osteosclerosis | 0005464 | |
| Delayed closure of the anterior fontanelle |
Later than typical closing of soft spot of skull
|
0001476 |
| Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ]
|
0000678 |
| Dental malocclusion |
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ]
|
0000689 |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Fibular aplasia |
Absent calf bone
|
0002990 |
| Fibular hypoplasia |
Short calf bone
|
0003038 |
| Flexion |
0005830 | |
| Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Intestinal malrotation | 0002566 | |
| Joint contracture of the hand | 0009473 | |
| Laryngeal web | 0005950 | |
| Microtia |
Small ears
Underdeveloped ears
[ more ]
|
0008551 |
| Narrow forehead |
Decreased width of the forehead
|
0000341 |
| Nasal speech |
Nasal voice
|
0001611 |
| Natal tooth |
Born with teeth
Teeth present at birth
[ more ]
|
0000695 |
| Oligohydramnios |
Low levels of amniotic fluid
|
0001562 |
| Osteopathia striata | 0010740 | |
| Overfolded helix |
Overfolded ears
|
0000396 |
| Paranasal sinus hypoplasia | 0006784 | |
| Partial agenesis of the |
0001338 | |
| Patent ductus arteriosus | 0001643 | |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Pierre-Robin sequence | 0000201 | |
| Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
| Sclerosis of skull base |
Dense bone of skull base
|
0002694 |
| 0001250 | ||
| Short stature |
Decreased body height
Small stature
[ more ]
|
0004322 |
| Straight clavicles |
Straight collarbone
|
0006587 |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
| Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
|
0000179 |
| Thoracolumbar kyphosis | 0005619 | |
| Tracheomalacia |
Floppy windpipe
|
0002779 |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| Webbed neck |
Neck webbing
|
0000465 |
| Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ]
|
0006610 |
| 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 a large number of conditions with primary or secondary bone sclerosis. As the macrocephaly seems to be an early and constant clinical feature, OS-CS should be considered in the differential diagnosis of fetuses/infants with unexplained macrocephaly.
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.
