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Disease Profile
Acrofrontofacionasal dysostosis syndrome
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
Neonatal
ICD-10
Q75.1
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)
AFFN dysostosis 1; Polysyndactyly, postaxial, frontonasal dysostosis and cleft lip/palate; Cleft lip/palate with frontonasal dysostosis and postaxial polysyndactyly;
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Orpha Number: 1784
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
|
---|---|---|
100% of people have these symptoms | ||
Hypertelorism |
Widely spaced eyes
Wide-set eyes
[ more ] |
0000316 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Small stature
Decreased body height
[ more ] |
0004322 | |
80%-99% of people have these symptoms | ||
Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
Anonychia |
Absent nails
Aplastic nails
[ more ] |
0001798 |
Aplasia/Hypoplasia of the eyebrow |
Absence of eyebrow
Lack of eyebrow
Missing eyebrow
[ more ] |
0100840 |
Brachycephaly |
Short and broad skull
|
0000248 |
Short fingers or toes
|
0001156 | |
Broad forehead |
Increased width of the forehead
Wide forehead
[ more ] |
0000337 |
Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ] |
0000455 |
Broad thumb |
Wide/broad thumb
Broad thumbs
[ more ] |
0011304 |
Brushfield spots | 0001088 | |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
Cleft roof of mouth
|
0000175 | |
Dimple on nasal tip |
Dimpled tip of nose
|
0004132 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Eyelid coloboma |
Cleft eyelid
Notched eyelid
[ more ] |
0000625 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hypopigmented skin patches |
Patchy loss of skin color
|
0001053 |
Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 |
Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Non-midline |
0100335 | |
Drooping upper eyelid
|
0000508 | |
Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
30%-79% of people have these symptoms | ||
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
5%-29% of people have these symptoms | ||
Bifid scrotum |
Cleft of scrotum
|
0000048 |
Hypospadias | 0000047 | |
Iris atrophy |
Iris degeneration
|
0001089 |
Long eyebrows |
Elongated eyebrow
Increased horizontal length of eyebrow
Increased transverse length of eyebrow
[ more ] |
0004523 |
Long eyelashes |
Increased length of eyelashes
Unusually long eyelashes
[ more ] |
0000527 |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] |
0000303 |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Mixed hearing impairment |
Hearing loss, mixed
Mixed hearing loss
[ more ] |
0000410 |
Oligodontia |
Failure of development of more than six teeth
|
0000677 |
Optic atrophy | 0000648 | |
Pectus excavatum |
Funnel chest
|
0000767 |
0001250 | ||
S-shaped palpebral fissures |
S-shaped eyes
S-shaped opening between the eyelids
[ more ] |
0007835 |
Widow's peak |
Hairline peak
Hairline point
Pointed hairline at front of head
V-shaped frontal hairline
[ more ] |
0000349 |
Percent of people who have these symptoms is not available through HPO | ||
Acetabular dysplasia | 0008807 | |
0000007 | ||
Cleft upper lip |
Harelip
|
0000204 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Short metacarpal |
Shortened long bone of hand
|
0010049 |
Small nail |
Small nails
|
0001792 |
Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
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 |
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 Acrofrontofacionasal dysostosis syndrome. Click on the link to view a sample search on this topic.