Acrofrontofacionasal dysostosis syndrome
Alternate names[edit | edit source]
AFFN dysostosis 1; Polysyndactyly, postaxial, frontonasal dysostosis and cleft lip/palate; Cleft lip/palate with frontonasal dysostosis and postaxial polysyndactyly; Acro fronto facio nasal dysostosis
Definition[edit | edit source]
A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.
Epidemiology[edit | edit source]
Only 12 patients have been reported since the first description in 1985, 7 originate from Brazil.
Cause[edit | edit source]
The etiology of acro-fronto-facio-nasal dysostosis is unknown.
Inheritance[edit | edit source]
It probably inherited in Autosomal recessive manner.
Signs and symptoms[edit | edit source]
- 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.
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 100% of people have these symptoms
- Hypertelorism(Wide-set eyes)
- Intellectual disability(Mental deficiency)
- Short stature(Decreased body height)
80%-99% of people have these symptoms
- Abnormality of epiphysis morphology(Abnormal shape of end part of bone)
- Anonychia(Absent nails)
- Aplasia/Hypoplasia of the eyebrow(Absence of eyebrow)
- Brachycephaly(Short and broad skull)
- Brachydactyly(Short fingers or toes)
- Broad forehead(Increased width of the forehead)
- Broad nasal tip(Broad tip of nose)
- Broad thumb(Broad thumbs)
- Brushfield spots
- Camptodactyly of finger(Permanent flexion of the finger)
- Cerebral cortical atrophy(Decrease in size of the outer layer of the brain due to loss of brain cells)
- Cleft palate(Cleft roof of mouth)
- Dimple on nasal tip(Dimpled tip of nose)
- Downslanted palpebral fissures(Downward slanting of the opening between the eyelids)
- Eyelid coloboma(Cleft eyelid)
- High palate(Elevated palate)
- Hypopigmented skin patches(Patchy loss of skin color)
- Intellectual disability, severe(Early and severe mental retardation)
- Micromelia(Smaller or shorter than typical limbs)
- Midface retrusion(Decreased size of midface)
- Non-midline cleft lip
- Ptosis(Drooping upper eyelid)
- Short distal phalanx of finger(Short outermost finger bone)
30%-79% of people have these symptoms
- Everted lower lip vermilion(Drooping lower lip)
5%-29% of people have these symptoms
- Bifid scrotum(Cleft of scrotum)
- Hypospadias
- Iris atrophy(Iris degeneration)
- Long eyebrows(Elongated eyebrow)
- Long eyelashes(Increased length of eyelashes)
- Mandibular prognathia(Big lower jaw)
- Microphthalmia(Abnormally small eyeball)
- Mixed hearing impairment(Hearing loss, mixed)
- Oligodontia(Failure of development of more than six teeth)
- Optic atrophy
- Pectus excavatum(Funnel chest)
- Seizure
- S-shaped palpebral fissures(S-shaped eyes)
- Widow's peak(Hairline peak
Diagnosis[edit | edit source]
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
Acrofrontofacionasal dysostosis syndrome is a rare disease.
Acrofrontofacionasal dysostosis syndrome Resources | ||
---|---|---|
|
|
NIH genetic and rare disease info[edit source]
Acrofrontofacionasal dysostosis syndrome is a rare disease.
Acrofrontofacionasal dysostosis syndrome Resources | ||
---|---|---|
|
|
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Deepika vegiraju