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Disease Profile
X-linked dominant chondrodysplasia punctata 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.
1-9 / 1 000 000
Age of onset
Infancy
ICD-10
Q77.3
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)
CDPX2; CDPXD; CPXD;
Categories
Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;
Summary
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 | |||
Abnormal fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ] |
0001231 | |
0007431 | |||
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 | |
Erythema | 0010783 | ||
Hemiatrophy |
Asymmetric limb shortening
|
0100556 | |
Joint dislocation |
Joint dislocations
Recurrent joint dislocations
[ more ] |
0001373 | |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 | |
Drooping upper eyelid
|
0000508 | ||
Scarring alopecia of scalp | 0004552 | ||
30%-79% of people have these symptoms | |||
Optic atrophy | 0000648 | ||
5%-29% of people have these symptoms | |||
Abnormal vertebral morphology | 0003468 | ||
Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 | |
Abnormality of hair texture | 0010719 | ||
Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] |
0000164 | |
Aplasia/Hypoplasia of the skin |
Absent/small skin
Absent/underdeveloped skin
[ more ] |
0008065 | |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | ||
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 | |
Flat face |
Flat facial shape
|
0012368 | |
Foot |
Duplication of bones of the toes
|
0001829 | |
Frontal bossing | 0002007 | ||
Hip dysplasia | 0001385 | ||
Malar flattening |
Zygomatic flattening
|
0000272 | |
Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 | |
Microphthalmia |
Abnormally small eyeball
|
0000568 | |
Polydactyly |
More than five fingers or toes on hands or feet
|
0010442 | |
Postaxial polydactyly | 0100259 | ||
Rhizomelia |
Disproportionately short upper portion of limb
|
0008905 | |
Sensorineural hearing impairment | 0000407 | ||
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 | |
Percent of people who have these symptoms is not available through HPO | |||
Abnormal thorax morphology |
Abnormality of the chest
|
0000765 | |
Abnormality of |
Abnormal shape of pelvic girdle bone
|
0002644 | |
Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ] |
0000377 | |
Alopecia |
Hair loss
|
0001596 | |
Bilateral talipes equinovarus |
Club foot on both sides
|
0001776 | |
Calcific stippling | 0002832 | ||
Concave nasal ridge |
Boxer's nasal deformity
Boxer's nose deformity
Saddle nose
Ski jump nose
[ more ] |
0011120 | |
Congenital onset |
Symptoms present at birth
|
0003577 | |
Dandy-Walker malformation | 0001305 | ||
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 | |
Edema |
Fluid retention
Water retention
[ more ] |
0000969 | |
Elevated 8(9)-cholestenol | 0003465 | ||
Elevated 8-dehydrocholesterol | 0003462 | ||
Epiphyseal stippling |
Speckled calcifications in end part of bone
|
0010655 | |
Erythroderma | 0001019 | ||
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 | |
0000501 | |||
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 | |
Hemivertebrae |
Missing part of vertebrae
|
0002937 | |
Hydronephrosis | 0000126 | ||
IQ between 34 and 49
|
0002342 | ||
Involuntary, rapid, rhythmic eye movements
|
0000639 | ||
Patellar dislocation |
Dislocated kneecap
|
0002999 | |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 | |
Postnatal growth retardation |
Growth delay as children
|
0008897 | |
Punctate vertebral calcifications | 0008420 | ||
0002650 | |||
Short neck |
Decreased length of neck
|
0000470 | |
Sparse and thin eyebrow |
Thin, sparse eyebrows
|
0000535 | |
Sparse eyelashes |
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ] |
0000653 | |
Stippled calcification in carpal bones | 0004241 | ||
Tarsal stippling | 0008131 | ||
Tracheal calcification | 0002787 | ||
Tracheal stenosis |
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 |