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Abruzzo Erickson syndrome

CHARGE like syndrome X-linked, Cleft palate-coloboma-deafness

Overview

Abruzzo-Erickson syndrome (medical condition) is an extremely rare condition characterized by cleft palate, coloboma, hypospadius, deafness, short stature, and radioulnar synostosis. Treatment is generally aimed at addressing the symptoms present in each individual.

Symptoms - Abruzzo Erickson syndrome

Abruzzo-Erickson syndrome is characterized by an opening in the roof of the mouth (cleft palate), a gap or split in the structures that make up the eye (ocular coloboma), abnormal location for the opening of the urethra on the penis (hypospadius), mixed conductive-sensorineural hearing loss, short stature, and an abnormal fusion of the bones of the forearm (radioulnar synostosis). Additional features may include:
  • Large and protruding ears
  • Wide spacing between the second and third fingers
  • Fingers that are angled outward toward the fifth finger (ulnar deviation)
  • A slight difference in the size and shape of the right and left sides of the face (facial asymmetry)
  • Dental abnormalities
  • Congenital heart malformation (such as atrial septal defect)

These symptoms overlap with those seen in CHARGE syndrome, however, unlike those with CHARGE syndrome, individuals with Abruzzo-Erickson syndrome do not have intellectual disability, a narrowing or blockage of the nasal airway (choanal atresia) or underdevelopment of the genitals (genital hypoplasia).

Other Symptoms:

  • Cleft palate
  • Deafness
  • Eye abnormality
  • Iris defect
  • Reduced vision
  • Abnormal fusion of the two main forearm bones
  • Protruding ears
  • Short stature
  • Coloboma
  • Cleft palate
  • Deafness
  • Eye abnormality
  • Iris defect
  • Reduced vision
  • Abnormal fusion of the two main forearm bones
  • Protruding ears
  • Cheekbone underdevelopment
  • Displacement of the external urethral meatus
  • Macrotia
  • Malar flattening

Causes - Abruzzo Erickson syndrome

Although the underlying cause of the condition is still being studied, it appears to result, at least in part, from mutations in the TBX22 gene. The condition is inherited in an X-linked recessive manner.

Prevention - Abruzzo Erickson syndrome

Not supplied.

Diagnosis - Abruzzo Erickson syndrome

  • Is it unilateral or bilateral? Unilateral deafness may be due to local conditions such as wax, a foreign body, otitis media, or ruptured drum, or it may be due to neurologic conditions such as Ménière's disease, acoustic neuroma, or multiple sclerosis. Bilateral deafness is more likely due to otosclerosis, acoustic trauma, presbyacusis, or drug toxicity.
  • Are there abnormalities on otoscopic examination of the ear? It is very important to do a thorough examination of the ear, as one may find wax, foreign body, otitis media, cholesteatoma, or ruptured drum.
  • Is there associated vertigo? The presence of vertigo should make one think of Ménière\'s disease or some neurologic condition such as acoustic neuroma, multiple sclerosis, or basilar artery insufficiency.
  • What are the results of the Rinne test? Normally, the Rinne test should show a 2 to 1 ratio of air to bone hearing. In otosclerosis, the ratio approaches 1 to 1, but in sensory neural deafness the ratio is preserved at 2 to 1. In unilateral deafness, the Weber test is helpful. This will lateralize to the affected ear if the problem is a conductive deafness, and it will lateralize to the good ear if the problem is a sensory neural deafness.

Prognosis - Abruzzo Erickson syndrome

Not supplied.

Treatment - Abruzzo Erickson syndrome

Treatment is generally aimed at addressing the symptoms present in each individual.

Children with Abruzzo-Erickson syndrome can survive into adulthood and live happy, productive lives as long as they are treated from an early age. These kids have many life-threatening problems which must be addressed. Medical advancements in the past several decades have made it much more common for people born with Abruzzo-Erickson syndrome to live long and happy lives. Since the majority of people with this syndrome have hearing problems that is one of the first things which is addressed when planning a lifelong treatment plan.

There is no cure for this condition and much of the treatments will be focused on addressing specific symptoms rather than the syndrome itself. Things such as physical therapy and occupational therapy are important. One key thing to remember is that many children with this syndrome are of normal intelligence but due to their disabilities may need special help. Some parents have underestimated the intelligence of their children because of the hearing problems and other issues which make education more difficult.

Working with doctors to ensure a plan to ensure they can live as normal and productive life as possible is important from an early age. Most of the time, with special attention, they can live very happy and long lives. Monitoring the heart for the defects which are common is also important since there are medications which can help minimize this risk or surgery to correct some of the conditions which are possible.

Resources - Abruzzo Erickson syndrome

  • WhySoCurious
  • NIH
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