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Disease Profile
Metaphyseal acroscyphodysplasia
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
Age of onset
Neonatal
ICD-10
Q78.5
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)
Cupped metaphyses and cone-shaped epiphyses of knees with brachydactyly; Wedge-shaped epiphyses of knees; Bellini syndrome;
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Orpha Number: 1240
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 | ||
| Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
| Accelerated skeletal maturation |
Advanced bone age
Early bone maturation
[ more ] |
0005616 |
|
Short fingers or toes
|
0001156 | |
| Cone-shaped metacarpal epiphyses |
Cone-shaped end part of long bone
|
0006059 |
| Coxa valga | 0002673 | |
| Genu varum |
Outward bow-leggedness
Outward bowing at knees
[ more ] |
0002970 |
| Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
| Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] |
0003510 |
| Short toe |
Short toes
Stubby toes
[ more ] |
0001831 |
| 30%-79% of people have these symptoms | ||
| Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ] |
0000457 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
| Frontal bossing | 0002007 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
| Joint dislocation |
Joint dislocations
Recurrent joint dislocations
[ more ] |
0001373 |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ] |
0011220 |
| Telecanthus |
Corners of eye widely separated
|
0000506 |
| Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
| 5%-29% of people have these symptoms | ||
| Flat face |
Flat facial shape
|
0012368 |
| 0002650 | ||
| Percent of people who have these symptoms is not available through HPO | ||
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
| 0000007 | ||
| Biconcave vertebral bodies | 0004586 | |
| Cone-shaped epiphyses of the phalanges of the hand |
Cone-shaped end part of finger bones
|
0010230 |
| 0001363 | ||
| Hypoplasia of the odontoid process | 0003311 | |
| Irregular phalanges |
Irregular finger bones
|
0006205 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Metaphyseal cupping | 0003021 | |
| Metaphyseal widening |
Broad wide portion of long bone
|
0003016 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
| Narrow pelvis bone | 0003275 | |
| Platyspondyly |
Flattened vertebrae
|
0000926 |
| Short finger |
Stubby finger
|
0009381 |
| Short humerus |
Short long bone of upper arm
Short upper arms
[ more ] |
0005792 |
| Short metacarpal |
Shortened long bone of hand
|
0010049 |
| Short palm | 0004279 | |
| Short phalanx of finger |
Short finger bones
|
0009803 |
| Thickened calvaria |
Increased thickness of skull cap
Thickened skull cap
[ more ] |
0002684 |
| Tibial bowing |
Bowed shankbone
Bowed shinbone
[ more ] |
0002982 |
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.
Social Networking Websites
- Contact a Family is a UK-wide charity providing advice, information and support to individuals affected by various health conditions. They enable parents, families, and individuals to get in contact with others, on a local, national, and international basis. Each year they reach at least 275,000 families. Click on Contact a Family to view the Making Contact page for Metaphyseal Acroscyphodysplasia.
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 Metaphyseal acroscyphodysplasia. Click on the link to view a sample search on this topic.