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Disease Profile
Frontofacionasal 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.
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
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)
FFND; Frontofacionasal dysostosis; Fronto-facio-nasal dysostosis;
Categories
Congenital and Genetic Diseases; Eye diseases; Mouth Diseases;
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1791
Definition
A rare congenital malformation characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis , S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).
Epidemiology
Five cases have been reported so far.
The etiology remains unknown.
The syndrome is inherited in an autosomal recessive manner.
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 | ||
| Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
| Broad forehead |
Increased width of the forehead
Wide forehead
[ more ] |
0000337 |
| Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
| Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ] |
0000457 |
| Facial cleft |
Cleft of the face
|
0002006 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
| Non-midline |
0100335 | |
|
Drooping upper eyelid
|
0000508 | |
| Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| Telecanthus |
Corners of eye widely separated
|
0000506 |
| Upper eyelid coloboma |
Cleft upper eyelid
Notched upper eyelid
[ more ] |
0000636 |
| 30%-79% of people have these symptoms | ||
| Absent inner eyelashes | 0007708 | |
| Aplasia/Hypoplasia of the eyebrow |
Absence of eyebrow
Lack of eyebrow
Missing eyebrow
[ more ] |
0100840 |
| Bifid nasal tip |
Cleft nasal tip
|
0000456 |
| Brachycephaly |
Short and broad skull
|
0000248 |
| Brushfield spots | 0001088 | |
|
Cleft roof of mouth
|
0000175 | |
| Encephalocele | 0002084 | |
| Hypoplasia of olfactory tract | 0007036 | |
| Iris coloboma |
Cat eye
|
0000612 |
| Limbal dermoid | 0001140 | |
| Preauricular skin tag | 0000384 | |
| 5%-29% of people have these symptoms | ||
|
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
| Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ] |
0000453 |
| Dimple on nasal tip |
Dimpled tip of nose
|
0004132 |
| Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 |
| Microphthalmia |
Abnormally small eyeball
|
0000568 |
| Subcutaneous nodule |
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] |
0001482 |
| Percent of people who have these symptoms is not available through HPO | ||
| Ankyloblepharon |
Adhesion of eyelids
Eyelids stuck together
[ more ] |
0009755 |
| 0000007 | ||
| Bifid nose |
Indentation or clefting of the nose
|
0011803 |
| Bifid uvula | 0000193 | |
| Cleft upper lip |
Harelip
|
0000204 |
| Cranium bifidum occultum | 0004423 | |
| Eyelid coloboma |
Cleft eyelid
Notched eyelid
[ more ] |
0000625 |
| Frontal cutaneous lipoma | 0007541 | |
| Hypoplasia of the frontal bone |
Decreased size of bone of forehead
Small bone of forehead
Underdevelopment of bone of forehead
[ more ] |
0005466 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Midline defect of the nose | 0004122 | |
| S-shaped palpebral fissures |
S-shaped eyes
S-shaped opening between the eyelids
[ more ] |
0007835 |
| Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
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 Frontofacionasal dysplasia. Click on the link to view a sample search on this topic.