Rare Endocrinology News

Disease Profile

X-linked dominant chondrodysplasia punctata 2

Prevalence
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

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

Age of onset

Infancy

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

CDPX2; CDPXD; CPXD;

Categories

Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;

Summary

X-linked dominant chondrodysplasia punctata 2 (CDPX2), also known as Conradi-Hünermann-Happle syndrome, is a rare form of skeletal dysplasia characterized by skeletal malformations, skin abnormalities, cataracts and short stature. The specific symptoms and severity of the disorder may vary greatly from one individual to another. CDPX2 is caused by mutations in the emopamil binding protein gene, EBP. In many cases, this mutation occurs randomly, for no apparent reason (i.e., new mutation). The condition is inherited as an X-linked dominant trait and occurs almost exclusively in females.[1][2] Treatment of CDPX2 is directed toward the specific symptoms that present in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, including physicians who diagnose and treat disorders of the skeleton, joints, muscles, and related tissues (orthopedists); skin specialists (dermatologists); eye specialists; and/or other health care professionals.[1]

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
Congenital ichthyosiform erythroderma
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
Ptosis
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
Cataract
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 polydactyly
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 pelvic girdle bone morphology
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
Glaucoma
0000501
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Hemivertebrae
Missing part of vertebrae
0002937
Hydronephrosis
0000126
Intellectual disability, moderate
IQ between 34 and 49
0002342
Nystagmus
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
Scoliosis
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

Diagnosis

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.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Organizations

    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.

    Organizations Supporting this Disease

      Learn more

      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.

      Where to Start

      • Genetics Home Reference (GHR) contains information on X-linked dominant chondrodysplasia punctata 2. This website is maintained by the National Library of Medicine.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss X-linked dominant chondrodysplasia punctata 2. Click on the link to view a sample search on this topic.

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