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Disease Profile

Acromelic frontonasal dysostosis

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

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

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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.

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)

AFND

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.
orphanet

Orpha Number: 1827

Definition
A rare frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.

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
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 corpus callosum
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 developmental delay
0001263
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Large fontanelles
Wide fontanelles
0000239
Median cleft palate
Central cleft palate
Midline cleft palate

[ more ]

0009099
Meningocele
0002435
Midline central nervous system lipomas
0006866
Preaxial foot polydactyly
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 cleft lip
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
Glaucoma
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
Ptosis
Drooping upper eyelid
0000508
Retrocerebellar cyst
0006951
Seizure
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
Autosomal dominant inheritance
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
Syndactyly
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.