Rare Neurology News
Advertisement
Disease Profile
Microcephalic osteodysplastic primordial dwarfism type 2
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Antenatal
ICD-10
Q87.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
MOPD 2; MOPD II; Osteodysplastic primordial dwarfism type 2;
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Musculoskeletal Diseases;
Summary
Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) is a condition characterized by
Symptoms
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 |
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
DiagnosisMaking 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. Testing Resources
Related diseasesRelated 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.
OrganizationsSupport 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. Organizations Supporting this Disease
Learn moreThese 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. Where to Start
In-Depth Information
References
Rare Neurology News |