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 epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
| Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
| Aplasia/Hypoplasia of the earlobes |
Absent/small ear lobes
Absent/underdeveloped ear lobes
[ more ]
|
0009906 |
|
Short fingers or toes
|
0001156 | |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Coxa vara | 0002812 | |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| Disproportionate |
0003498 | |
| Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ]
|
0002213 |
| High pitched voice | 0001620 | |
| Hypoplastic iliac wing | 0002866 | |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
| Narrow pelvis bone | 0003275 | |
| Nasal speech |
Nasal voice
|
0001611 |
| Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
|
0000448 |
| Reduced number of teeth |
Decreased tooth count
|
0009804 |
| 30%-79% of people have these symptoms | ||
| Abnormality of female external genitalia |
Abnormal female external genitalia
|
0000055 |
| Aplasia/Hypoplasia of the eyebrow |
Absence of eyebrow
Lack of eyebrow
Missing eyebrow
[ more ]
|
0100840 |
| Dry skin | 0000958 | |
| Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ]
|
0000293 |
| Hypopigmented skin patches |
Patchy loss of skin color
|
0001053 |
| Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Microdontia |
Decreased width of tooth
|
0000691 |
| Multiple cafe-au-lait spots | 0007565 | |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
| 0002650 | ||
| Sensorineural hearing impairment | 0000407 | |
| Truncal obesity | 0001956 | |
| Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
| 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 | ||
|
Low number of red blood cells or hemoglobin
|
0001903 | |
| Arterial stenosis |
Narrowing of an artery
|
0100545 |
| 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 |
| Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ]
|
0007018 |
| Cone-shaped epiphysis |
Cone-shaped end part of bone
|
0010579 |
| Dilatation |
Wider than typical opening or gap
|
0002617 |
| Distal symphalangism | 0100263 | |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Global |
0001263 | |
| Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Hypoplastic scapulae |
Small shoulder blade
|
0000882 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Ivory epiphyses |
Increased bone density in end part of bone
|
0010583 |
| Large sella turcica |
Big sella turcica
|
0002690 |
| Laryngomalacia |
Softening of voice box tissue
|
0001601 |
| Limited elbow extension |
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension
[ more ]
|
0001377 |
| Long clavicles |
Long collarbone
|
0000890 |
| Narrow chest |
Low chest circumference
Narrow shoulders
[ more ]
|
0000774 |
| Narrow palpebral fissure |
Small opening between the eyelids
|
0045025 |
| Patent ductus arteriosus | 0001643 | |
| Precocious puberty |
Early onset of puberty
Early puberty
[ more ]
|
0000826 |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
| 0001250 | ||
| Short middle phalanx of finger |
Short middle bone of finger
|
0005819 |
| Straight clavicles |
Straight collarbone
|
0006587 |
| Stroke | 0001297 | |
| Thin clavicles |
Thin collarbone
|
0006645 |
| Tracheal stenosis |
Narrowing of windpipe
|
0002777 |
| Ventriculomegaly | 0002119 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines | 0007402 | |
| 0000007 | ||
| Cafe-au-lait spot | 0000957 | |
| Dilatation of the cerebral artery | 0004944 | |
| Flared metaphysis |
Flared wide portion of long bone
|
0003015 |
| Hypermetropia |
Farsightedness
Long-sightedness
[ more ]
|
0000540 |
| Hypoplasia of dental enamel |
Underdeveloped teeth enamel
|
0006297 |
| Hypospadias | 0000047 | |
| Microtia |
Small ears
Underdeveloped ears
[ more ]
|
0008551 |
| Moyamoya phenomenon | 0011834 | |
| Postnatal growth retardation |
Growth delay as children
|
0008897 |
| 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 |
| Proximal femoral epiphysiolysis |
Slipped end part of innermost thighbone
|
0006461 |
| Pseudoepiphyses of the metacarpals | 0009193 | |
| Radial bowing |
Bowing of outer large bone of the forearm
|
0002986 |
| Short 1st metacarpal |
Shortened 1st long bone of hand
|
0010034 |
| Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
| Slender long bone |
Long bones slender
Thin long bones
[ more ]
|
0003100 |
| Sloping forehead |
Inclined forehead
Receding forehead
[ more ]
|
0000340 |
| Sparse scalp hair |
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ]
|
0002209 |
| Tibial bowing |
Bowed shankbone
Bowed shinbone
[ more ]
|
0002982 |
| Type II |
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes
[ more ]
|
0005978 |
| Ulnar bowing |
Curving of inner forearm bone
|
0003031 |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
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 Meier-Gorlin syndrome, LIG4 syndrome, XRCC4 deficiency, Seckel syndrome, MOPD types I and III, SHORT syndrome, Schimke immuno-osseous dysplasia, and Dubowitz syndrome.
Visit the
Orphanet disease page
for more information.
|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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
Does the "M" in MOPD stand for microcephaly or Majewski? What is the difference between the types of MOPD in terms of genetics? See answer
