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Angel shaped phalangoepiphyseal dysplasia


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Other Names:
Angel-shaped phalango-epiphyseal dysplasia; ASPED
Categories:
Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary Summary


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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 63442

Definition
A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.

Epidemiology
The prevalence is unknown. ASPED is a rare disease with less than 20 cases reported in the literature to date, however, it is likely underdiagnosed.

Clinical description
Clinical manifestations in ASPED are not only restricted to the hands, and the original description reported various combinations of angel-shaped middle phalanges, hip dysplasia and dental anomalies (hypodontia). Patient stature ranges from short to normal. Hip dysplasia gives rise to premature or severe osteoarthritis causing severe intermittent hip pain. Non-specific brachydactyly and hyperextensible interphalangeal joints have been reported, as well as delayed bone age. Delayed dentition, abnormally placed teeth, premature loss of teeth, abnormal enamel, and malocclusion have also been described in some.

Etiology
ASPED is caused by mutations in the growth differentiation factor 5 (GDF5) gene, located on chromosome 20q11.2, encoding CDMP1 (cartilage derived morphogenetic protein). CDMP1 belongs to the TGF beta super family and plays a role in bone growth and joint morphogenesis.

Diagnostic methods
Diagnostic methods include skeletal x-rays, showing the typical radiological features of ASPED, along with GDF5 molecular analysis, which confirms diagnosis. Angel-shaped middle phalanges are usually an isolated bone anomaly, and are shaped like ''Christmas tree angels'', with the wings formed by the diaphyseal cuff of bone surrounding the phalanx, the skirt by a cone-shaped epiphysis, and the head by the distal pseudoepiphysis. Angel-shaped phalanges can be difficult to find in adults. However, they can be associated with dental anomalies, hip dysplasia and short stature.

Differential diagnosis
The main clinical differential diagnosis is Brachydactyly type C (see this term), which is also associated with a GDF5 mutation, suggesting that both syndromes may be part of the same clinical spectrum.

Antenatal diagnosis
As ASPED is not a serious condition, prenatal diagnosis is not offered.

Genetic counseling
ASPED is transmitted as an autosomal dominant condition and genetic counseling is possible. Clinical variability and low penetrance have been reported.

Management and treatment
Treatment may involve orthopedic management (i.e. hip arthroplasty), and plastic surgery (when thumb involvement is very severe or if syndactyly is associated). In patients with severe hip involvement, walking aids may be required. Dental anomalies may require orthodontic management.

Prognosis
ASPED does not affect life-expectancy and the prognosis is good. Quality of life is reduced in those with untreated and severe coxarthrosis.

Visit the Orphanet disease page for more resources.
Last updated: 12/1/2014

Symptoms Symptoms


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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.

Showing of 14 |
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
Short 1st metacarpal
Shortened 1st long bone of hand
0010034
Short middle phalanx of the 5th finger
Short middle bone of the little finger
Short middle bone of the pinkie finger
Short middle bone of the pinky finger
[ more ]
0004220
30%-79% of people have these symptoms
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
0000684
Hip dysplasia 0001385
Hip osteoarthritis 0008843
Hypodontia
Failure of development of between one and six teeth
0000668
Short stature
Decreased body height
Small stature
[ more ]
0004322
5%-29% of people have these symptoms
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ]
0002750
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Percent of people who have these symptoms is not available through HPO
Delayed ossification of carpal bones 0001216
Hyperextensibility of the finger joints
Finger joint hyperextensibility
Hyperextensible digits
Hyperextensible finger
[ more ]
0001187
Premature osteoarthritis
Premature arthritis
0003088
Pseudoepiphyses of the metacarpals 0009193
Showing of 14 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
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Find a Specialist Find a Specialist


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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.

Learn More Learn More


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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.

In-Depth Information

  • 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 Angel shaped phalangoepiphyseal dysplasia. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers


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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.

Have a question? Contact a GARD Information Specialist.
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