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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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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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

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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.

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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)

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.
orphanet

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.

Clinical description
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.

Etiology
Homozygous mutations in the Indian hedgehog homolog gene (IHH; 2q33-q35), outside the region where brachydactyly type A-1 mutations are clustered, have been identified in affected patients.

Genetic counseling
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
Short stature
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
Scoliosis
0002650
Short thorax
Shorter than typical length between neck and abdomen
0010306
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Brachydactyly
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.