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Disease Profile

Acrofrontofacionasal dysostosis syndrome

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

Q75.1

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)

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

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1784

Definition
A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.

Epidemiology
Only 12 patients have been reported since the first description in 1985, 7 originate from Brazil.

Clinical description
The cranio-facial malformations are numerous and variable. They include brachycephaly or microbrachycephaly, prominent forehead with low frontal and occipital hairline, wide anterior fontanel, hypertelorism, large philtrum, broad notched nasal tip, cleft lip, highly-arched palate, small ears with prominent helix, hypoplasia of mid-face, and prognathism. Other skeletal malformations are also present, with syndactyly of fingers 3 and 4, hypoplastic 3rd, 4th and 5th toes, anomalies of feet structure and fibular hypoplasia. Short stature may be observed. Eye anomalies include bilateral ptosis, coloboma of the upper lids, cataract, congenital glaucoma and iris atrophy. In some male patients, hypospadias, with or without cleft glans, and bifid scrotum are reported. Patients suffer from potentially severe intellectual deficit and present with anomalies of the cortical gyration (without any corpus callosum abnormality). Encephalocele may occur.

Etiology
The etiology of acro-fronto-facio-nasal dysostosis is unknown.

Genetic counseling
Autosomal recessive transmission is probable.

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
100% of people have these symptoms
Hypertelorism
Widely spaced eyes
Wide-set eyes

[ more ]

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

[ more ]

0001249
Short stature
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
Brachydactyly
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 palate
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 cleft lip
0100335
Ptosis
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
Seizure
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
Autosomal recessive inheritance
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.