Rare Pulmonology News

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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.
orphanet

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.

Clinical description
The etiology remains unknown.

Genetic counseling
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 cleft lip
0100335
Ptosis
Drooping upper eyelid
0000508
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Short stature
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 palate
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
Cataract
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 corpus callosum
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
Autosomal recessive inheritance
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.