X-linked dominant chondrodysplasia punctata 2

Title

Other Names:

CDPX2; CDPXD; CPXD; CDPX2; CDPXD; CPXD; Conradi Hunermann syndrome; Happle syndrome; Conrad Hunermann Happle syndrome; Chondrodysplasia punctata, x-linked dominant See More

Categories:

Congenital and Genetic Diseases; Eye diseases; Metabolic disorders; Congenital and Genetic Diseases; Eye diseases; Metabolic disorders; Musculoskeletal Diseases; Skin Diseases See More

Summary 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]

Last updated: 11/18/2011

Symptoms 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.

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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
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
Abnormality of the thorax	Abnormality of the chest	0000765
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	Narrowing of windpipe	0002777
Variable expressivity		0003828
X-linked dominant inheritance		0001423

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 9/1/2020

Do you have updated information on this disease? We want to hear from you.

Diagnosis 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.

Find a Specialist Find a Specialist

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.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases

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 diagnoses include CDPX1; RCDP; chondrodysplasia punctata, tibia-metacarpal type; CHILD syndrome; systemic lupus erythematosus; MEND syndrome, and vitamin K deficiencies. Visit the Orphanet disease page for more information.

Research Research

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.

Patient Registry

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with X-linked dominant chondrodysplasia punctata 2. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for X-linked dominant chondrodysplasia punctata 2:
International Skeletal Dysplasia Registry (ISDR)

Organizations 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

Foundation for Ichthyosis and Related Skin Types (FIRST)
2616 North Broad Street
Colmar, PA 18915
Toll-free: 1-800-545-3286
Telephone: +1-215-997-9400
E-mail: info@firstskinfoundation.org
Website: http://www.firstskinfoundation.org/
Little People of America, Inc.
617 Broadway #518
Sonoma, CA 95476
Toll-free: 1-888-572-2001
Telephone: +1-714-368-3689
Fax: +1-707-721-1896
E-mail: info@lpaonline.org
Website: https://www.lpaonline.org/
The MAGIC Foundation
4200 Cantera Dr. #106
Warrenville, IL 60555
Toll-free: 800-362-4423
Telephone: 630-836-8200
Fax: 630-836-8181
E-mail: contactus@magicfoundation.org
Website: https://www.magicfoundation.org/

Do you know of an organization? We want to hear from you.

Learn More 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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