Paula and Bobby
Parents of Lillie
Abruzzo-Erickson syndrome; ABERS
What is Abruzzo-Erickson syndrome; ABERS?
Abruzzo-Erickson syndrome; ABERS is a rare disease. It is also known as Abruzzo-Erickson syndrome Charge-like Syndrome, X-linked.
In the original description, a partially affected mother was reported together with her affected brother and her two sons. The two sons had a cleft palate, iris and retinal colobomas, a mixed conductive and sensorineural hearing loss, large soft ears, flat malar regions, short stature and hypospadias. One had radio-ulnar synostosis and one a horseshoe kidney. Abruzzo and Erickson re-evaluated the family in 1989 and concluded that the condition was different from CHARGE association. The mode of inheritance is uncertain - it could be X-linked or autosomal dominant. Verloes and Dodinval (1990) reported an adult female with similar features. They state that abnormalities were also consistent with the diagnosis of Rieger syndrome. Her mother had bilateral goniodysgenesis with obliteration of the angle of the anterior chamber with mesenchymatous tissue, but no other anomalies.
A single case of a female with a cleft of the soft palate, a unilateral iris coloboma, mandibular retrognathia, increased vertical face height and a unilateral radio-ulnar synostosis was reported by Kidner et al., (2004). She was mildly developmentally delayed and had missing lateral incisors.
The condition maps to Xq12-q21 and mutations have been found in TBX22 - the same gene responsible for X-linked cleft palate see under "cleft palate - X-linked and dominant"
* This information is courtesy of the L M D.
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What gene changes cause Abruzzo-Erickson syndrome; ABERS?
The syndrome is inherited in the following inheritance pattern/s:
X-Linked Recessive - Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.
Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 302905 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
TBX22 - Xq21.1
What are the main symptoms of Abruzzo-Erickson syndrome; ABERS?
The typical symptoms of the syndrome are:
Toe syndactyly, Sensorineural hearing impairment, Protruding ear, Hearing impairment, Short stature, Hypoplasia of the zygomatic bone, Short toe, Hypospadias, Conductive hearing impairment, Malar flattening, Displacement of the urethral meatus, Brachydactyly, Cryptorchidism, Microcornea, Chorioretinal coloboma, Coloboma, Epicanthus, Ulnar deviation of finger, Radioulnar synostosis, X-linked inheritance, Dimple chin, Abnormality of dental morphology, Abnormal localization of kidney, Macrotia, Iris coloboma, Cleft palate, Atrial septal defect
How does someone get tested for Abruzzo-Erickson syndrome; ABERS?
The initial testing for Abruzzo-Erickson syndrome; ABERS can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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