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Acrofrontofacionasal dysostosis syndrome

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Alternate names

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

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.

Cause

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

Inheritance

Autosomal recessive inheritance, a 25% chance

It probably inherited in Autosomal recessive manner.

Signs and symptoms

  • 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

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

Treatment

NIH genetic and rare disease info

Acrofrontofacionasal dysostosis syndrome is a rare disease.


Latest research - Acrofrontofacionasal dysostosis syndrome

PubMed
Clinical trials


NIH genetic and rare disease info

Acrofrontofacionasal dysostosis syndrome is a rare disease.


Latest research - Acrofrontofacionasal dysostosis syndrome

PubMed
Clinical trials


 

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