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Disease Profile

Distal arthrogryposis type 1

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.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of onset

Neonatal

ICD-10

Q68.8

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.

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)

AMCD1; Digitotalar dysmorphism; DA1A;

Categories

Congenital and Genetic Diseases

Summary

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

Orpha Number: 1146

Definition
Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term).

Visit the Orphanet disease page for more resources.

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
100% of people have these symptoms
Distal arthrogryposis
0005684
80%-99% of people have these symptoms
Adducted thumb
Inward turned thumb
0001181
Contractures involving the joints of the feet
Contractures of the foot joints
0008366
Overlapping fingers
0010557
30%-79% of people have these symptoms
Camptodactyly of finger
Permanent flexion of the finger
0100490
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
Talipes
0001883
Ulnar deviation of finger
Finger bends toward pinky
0009465
5%-29% of people have these symptoms
Abnormality of the hip bone
Abnormality of the hips
0003272
Narrow mouth
Small mouth
0000160
Rocker bottom foot
Rocker bottom feet
Rocker-bottom feet
Rockerbottom feet

[ more ]

0001838
1%-4% of people have these symptoms
Joint contracture of the hand
0009473
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
Absent distal interphalangeal creases
0001032
Arthrogryposis multiplex congenita
0002804
Autosomal dominant inheritance
0000006
Calcaneovalgus deformity
0001848
Camptodactyly
Permanent flexion of the finger or toe
0012385
Congenital hip dislocation
Dislocated hip since birth
0001374
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Decreased hip abduction
0003184
Elbow flexion contracture
Contractures of elbows
Elbow contracture
Elbow contractures

[ more ]

0002987
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Hand clenching
Clenched hands
0001188
Hip contracture
0003273
Knee flexion contracture
0006380
Long nasal bridge
0033142
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Overlapping toe
Overlapping toes
Overriding toes

[ more ]

0001845
Ptosis
Drooping upper eyelid
0000508
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw

[ more ]

0000278
Scoliosis
0002650
Short stature
Decreased body height
Small stature

[ more ]

0004322
Single transverse palmar crease
0000954
Stiff shoulders
0009742
Trismus
Lockjaw
0000211
Ulnar deviation of the hand or of fingers of the hand
0001193
Webbed neck
Neck webbing
0000465

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 Distal arthrogryposis type 1. This website is maintained by the National Library of Medicine.

        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. 
          The Online Mendelian Inheritance in Man (OMIM)
          Online Mendelian Inheritance in Man (OMIM)
        • 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 Distal arthrogryposis type 1. Click on the link to view a sample search on this topic.