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Disease Profile

Brachydactyly type A1

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.

Unknown

Age of onset

Infancy

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ICD-10

Q73.8

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)

BDA1; Brachydactyly Farabee type

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

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

Orpha Number: 93388

Definition
Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges.

Epidemiology
Only a few pedigrees have been reported in the literature.

Clinical description
The proximal phalanges of the thumbs and big toes are short. BDA1 patients tend to be of short stature in adulthood.

Etiology
BDA1 may be caused by mutations in the Indian hedgehog gene (IHH) located on chromosome 2q35-36. Another locus for this phenotype has been identified on chromosome 5p13.3-p13.2.

Genetic counseling
BDA1 is inherited as an autosomal dominant trait.

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
80%-99% of people have these symptoms
Short foot
Short feet
Small feet

[ more ]

0001773
Short hallux
Short big toe
0010109
Short middle phalanx of finger
Short middle bone of finger
0005819
Short stature
Decreased body height
Small stature

[ more ]

0004322
Short thumb
Short thumbs
Small thumbs

[ more ]

0009778
30%-79% of people have these symptoms
Cone-shaped epiphysis
Cone-shaped end part of bone
0010579
5%-29% of people have these symptoms
Broad metacarpals
Wide long bones of hand
0001230
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Distal symphalangism of hands
Fused outermost bones of hand
0001204
Hypoplasia of the ulna
Underdeveloped inner large forearm bone
0003022
Scoliosis
0002650
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

0001762
Percent of people who have these symptoms is not available through HPO
Absent distal interphalangeal creases
0001032
Autosomal dominant inheritance
0000006
Brachydactyly
Short fingers or toes
0001156
Broad metacarpal epiphyses
Broad end part of long bone of hand
0006146
Broad palm
Broad hand
Broad hands
Wide palm

[ more ]

0001169
Flattened metatarsal heads
Flattened head of long bone of foot
0005194
Proportionate shortening of all digits
0006165
Radial deviation of the 2nd finger
0009467
Radial deviation of the 3rd finger
Inward turned middle finger
0009462
Radial deviation of the 4th finger
0009279
Short distal phalanx of finger
Short outermost finger bone
0009882
Short metacarpal
Shortened long bone of hand
0010049
Short palm
0004279
Short proximal phalanx of hallux
Short innermost big toe bone
0010107
Short proximal phalanx of thumb
0009638
Slender metacarpals
Slender long bones of hand
0006236
Thin proximal phalanges with broad epiphyses of the hand
Thin innermost bone with broad end part of the hand bone
0006213

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.

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.

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 Brachydactyly type A1. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

  • The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.