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Disease Profile
Acrofacial dysostosis Palagonia type
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.
<1 / 1 000 000
Age of onset
Infancy
ICD-10
Q75.4
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)
Palagonia type of acrofacial dysostosis; Palagonia form of AFD; PAFD;
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: 1787
Definition
A very rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip . Features are similar to those seen in Zlotogora-Ogur syndrome , although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.
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 | ||
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
| Finger |
0006101 | |
| Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ] |
0000294 |
| Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
| Oligodontia |
Failure of development of more than six teeth
|
0000677 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Short 4th metacarpal |
Shortened 4th long bone of hand
|
0010044 |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| Small hand |
Disproportionately small hands
|
0200055 |
| Sparse eyelashes |
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ] |
0000653 |
| Sparse lateral eyebrow |
Limited hair on end of eyebrow
|
0005338 |
| 30%-79% of people have these symptoms | ||
| Abnormal form of the vertebral bodies | 0003312 | |
| Broad forehead |
Increased width of the forehead
Wide forehead
[ more ] |
0000337 |
| Bulbous nose | 0000414 | |
| Increased number of teeth |
Extra teeth
Increased tooth count
Supplemental teeth
[ more ] |
0011069 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Short neck |
Decreased length of neck
|
0000470 |
| Thin eyebrow |
Thin eyebrows
|
0045074 |
| 5%-29% of people have these symptoms | ||
| Dermal atrophy |
Skin degeneration
|
0004334 |
| High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] |
0002705 |
| Pili torti |
Flattened and twisted hair
|
0003777 |
| 0002650 | ||
| Spina bifida occulta | 0003298 | |
| Unilateral |
One sided cleft upper lip
|
0100333 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal vertebral morphology | 0003468 | |
| Aplasia cutis congenita |
Absence of part of skin at birth
|
0001057 |
| 0000006 | ||
| Cleft upper lip |
Harelip
|
0000204 |
| Cutaneous finger syndactyly |
Webbed fingers
Webbed skin of fingers
[ more ] |
0010554 |
| Hypoplasia of the odontoid process | 0003311 | |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ] |
0011220 |
| Sparse eyebrow |
Sparse eyebrows
|
0045075 |
| Spina bifida occulta at S1 | 0004614 | |
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 Acrofacial dysostosis Palagonia type. Click on the link to view a sample search on this topic.