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Disease Profile
Acromelic frontonasal dysostosis
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
Antenatal
ICD-10
Q75.8
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)
AFND
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Orpha Number: 1827
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 | ||
Abnormal toenail morphology |
Abnormality of the toenail
Abnormality of the toenails
[ more ] |
0008388 |
Abnormality of the glabella |
Abnormality of the area between the eyebrows
|
0002056 |
Agenesis of |
0001274 | |
Bifid nasal tip |
Cleft nasal tip
|
0000456 |
Bifid nose |
Indentation or clefting of the nose
|
0011803 |
Brachycephaly |
Short and broad skull
|
0000248 |
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 |
Encephalocele | 0002084 | |
Global |
0001263 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Large fontanelles |
Wide fontanelles
|
0000239 |
Median |
Central cleft palate
Midline cleft palate
[ more ] |
0009099 |
Meningocele | 0002435 | |
Midline |
0006866 | |
Preaxial foot |
0001841 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Telecanthus |
Corners of eye widely separated
|
0000506 |
Thick nasal alae | 0009928 | |
30%-79% of people have these symptoms | ||
Choroid plexus cyst | 0002190 | |
Hypoplasia of the olfactory bulb | 0040326 | |
Median |
Central cleft upper lip
|
0000161 |
Ventriculomegaly | 0002119 | |
5%-29% of people have these symptoms | ||
Anterior pituitary hypoplasia |
Underdeveloped pituitary gland
|
0010627 |
Aplasia/Hypoplasia of the tibia |
Absent/small shankbone
Absent/small shinbone
Absent/underdeveloped shankbone
Absent/underdeveloped shinbone
[ more ] |
0005772 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
0000501 | ||
Hypopituitarism | 0040075 | |
Large sella turcica |
Big sella turcica
|
0002690 |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
Patellar hypoplasia |
Small kneecap
Underdeveloped kneecap
[ more ] |
0003065 |
Drooping upper eyelid
|
0000508 | |
Retrocerebellar cyst | 0006951 | |
0001250 | ||
Upper airway obstruction | 0002781 | |
U-Shaped upper lip vermilion |
Carp-like mouth
Carp-shaped mouth
Fish mouth
Large, carp-shaped mouth
Wide, carp-shaped mouth
[ more ] |
0010806 |
Vertical clivus | 0010559 | |
Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
1%-4% of people have these symptoms | ||
Dermoid cyst | 0025247 | |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Cleft palate |
Cleft roof of mouth
|
0000175 |
Cleft upper lip |
Harelip
|
0000204 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Hypoplasia of the corpus callosum |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Lipoma |
Fatty lump
Noncancerous fatty lump
[ more ] |
0012032 |
Midline defect of the nose | 0004122 | |
Onychogryposis |
Thick nail
Thickened nails
[ more ] |
0001805 |
Periventricular nodular heterotopia | 0032388 | |
Polydactyly |
More than five fingers or toes on hands or feet
|
0010442 |
Preaxial polydactyly | 0100258 | |
Webbed fingers or toes
|
0001159 | |
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 Acromelic frontonasal dysostosis. Click on the link to view a sample search on this topic.