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Abruzzo–Erickson syndrome

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Other Names: CHARGE like syndrome X-linked

Abruzzo–Erickson syndrome
Other namesCHARGE like syndrome X-linked[1]
CausesGenetic (X-linked recessive)[1]
FrequencyExtremely rare[1]

Abruzzo–Erickson syndrome is a condition that may present with deafness, protruding ears, coloboma, a cleft palate or palatal rugosity, and short stature.[2][3]

It was characterized in 1977.[4]

Cause

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.

Inheritance

X-linked recessive inheritance

The condition is inherited in an X-linked recessive manner.

Signs and symptoms

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).

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

  • Cleft palate(Cleft roof of mouth)
  • Coronal hypospadias
  • Flat face(Flat facial shape)
  • Macrotia(Large ears)
  • Malar flattening(Zygomatic flattening)

30%-79% of people have these symptoms

  • Chorioretinal coloboma(Birth defect that causes a hole in the innermost layer at the back of the eye)
  • Iris coloboma(Cat eye)
  • Radioulnar synostosis(Fused forearm bones)
  • Sensorineural hearing impairment
  • Short stature(Decreased body height)
  • Ulnar deviation of finger(Finger bends toward pinky)

5%-29% of people have these symptoms

  • Abnormal localization of kidney(Abnormal localisation of kidneys)
  • Atrial septal defect(An opening in the wall separating the top two chambers of the heart)
  • Brachydactyly(Short fingers or toes)
  • Conductive hearing impairment(Conductive deafness)
  • Cryptorchidism(Undescended testes)
  • Dimple chin(Chin butt)
  • Epicanthus(Eye folds)
  • Microcornea(Cornea of eye less than 10mm in diameter)
  • Short toe(Short toes)
  • Toe syndactyly(Fused toes)

Diagnosis

Diagnosis is based upon clinical features. Genetic and molecular testing allows the diagnosis.

Differential diagnosis Differential diagnosis must be done for CHARGE syndrome.

Antenatal diagnosis Antenatal diagnosis is done by DNA analysis of fetal cells from maternal blood.

Treatment

Treatment is generally aimed at addressing the symptoms present in each individual.Correction of some abnormalities requires carnofacial surgery.

See also

References

External links

Classification
External resources


NIH genetic and rare disease info

Abruzzo–Erickson syndrome is a rare disease.

Latest research - Abruzzo–Erickson syndrome

PubMed
Clinical trials


 

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