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Disease Profile
Acrocapitofemoral dysplasia
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.
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.
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Age of onset
Infancy
ICD-10
Q78.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
Other names (AKA)
ACFD
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.
Orpha Number: 63446
Definition
A rare skeletal dysplasi, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.
Epidemiology
It has been described in 5 individuals in 2 families.
Affected patients have normal intelligence. Radiographically, cone-shaped epiphyses are observed in the hands, the proximal part of the femur, and, to a variable degree, at the shoulders, knees, and ankles.
The condition is transmitted as an autosomal recessive 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 | ||
| Coxa vara | 0002812 | |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
| Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
| Short palm | 0004279 | |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| Skeletal dysplasia | 0002652 | |
| 30%-79% of people have these symptoms | ||
| Broad nail |
Broad fingernails
Wide fingernails
[ more ] |
0001821 |
| Cone-shaped metacarpal epiphyses |
Cone-shaped end part of long bone
|
0006059 |
| Flared iliac wings | 0002869 | |
| Genu varum |
Outward bow-leggedness
Outward bowing at knees
[ more ] |
0002970 |
| Hyperlordosis |
Prominent swayback
|
0003307 |
| Ovoid vertebral bodies | 0003300 | |
| Small nail |
Small nails
|
0001792 |
| 5%-29% of people have these symptoms | ||
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
| Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| Pectus excavatum |
Funnel chest
|
0000767 |
| 0002650 | ||
| Short thorax |
Shorter than typical length between neck and abdomen
|
0010306 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
|
Short fingers or toes
|
0001156 | |
| Cone-shaped capital femoral epiphysis |
Cone-shaped end part of innermost thighbone
|
0008789 |
| Cone-shaped epiphysis of the 1st metacarpal |
Cone-shaped end part of the 1st long bone of hand
|
0010017 |
| Cupped ribs |
Rib cupping
|
0000887 |
| Delayed ossification of carpal bones | 0001216 | |
| Disproportionate short stature | 0003498 | |
| Disproportionate short-limb short stature |
Short limb dwarfism, disproportionate
Short-limbed dwarfism
[ more ] |
0008873 |
| Dysplasia of the femoral head | 0010575 | |
| Enlargement of the distal femoral epiphysis |
Enlargement of the outermost thighbone end part
|
0006438 |
| Fibular overgrowth |
Overgrowth of calf bone
|
0003099 |
| Hypoplasia of the radius |
Underdeveloped outer large forearm bone
|
0002984 |
| Hypoplasia of the ulna |
Underdeveloped inner large forearm bone
|
0003022 |
| Hypoplastic iliac wing | 0002866 | |
| Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
| Relative macrocephaly |
Relatively large head
|
0004482 |
| Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
| Short femoral neck |
Short neck of thighbone
|
0100864 |
| Short femur |
Short thighbone
|
0003097 |
| Short humerus |
Short long bone of upper arm
Short upper arms
[ more ] |
0005792 |
| Short metacarpal |
Shortened long bone of hand
|
0010049 |
| Short proximal phalanx of finger |
Short innermost finger bones
|
0010241 |
| Short proximal phalanx of thumb | 0009638 | |
| Short ribs | 0000773 | |
| Short tibia |
Short shinbone
Short skankbone
[ more ] |
0005736 |
| Small finger | 0030033 | |
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 Acrocapitofemoral dysplasia. Click on the link to view a sample search on this topic.