Paula and Bobby
Parents of Lillie
Al-Gazali (1994) -Anterior Segment Anomalies; Clefting; Skeletal Anomalies
What is Al-Gazali (1994) -Anterior Segment Anomalies; Clefting; Skeletal Anomalies?
Al-Gazali (1994) -Anterior Segment Anomalies; Clefting; Skeletal Anomalies is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Al Gazali et al., (1994) reported two sibs from a consanguineous pedigree with a syndrome similar to Michels syndrome (qv). Both had anterior chamber abnormalities with clouding of the cornea and skeletal abnormalities. There was arachnodactyly with clinodactyly of the 5th finger and dislocation of some of the interphalangeal joints. Radiographs revealed radio-ulnar synostosis, bowing of forearm bones, and long bowed fibulae. Associated features included talipes equinovarus, cleft lip and palate (in one case), intrauterine growth retardation, and congenital heart disease (a VSD in one case and an undiagnosed heart murmur in the other). Both children died in the first two months of life, and in the pedigree two cousins of the sibs appeared to have had a similar condition. Two further sibs from a consanguineous family were reported by Al-Gazali et al., (1999). Multiple fractures secondary to thinning of the bones seemed to be part of the condition. One case had an hypoplastic inferior cerebellar vermis and hyperechogenic areas in the basal ganglia. There appeared to be sclerosis at the base of the skull with poor ossification of the vault.Read More
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What gene changes cause Al-Gazali (1994) -Anterior Segment Anomalies; Clefting; Skeletal Anomalies?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
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.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Al-Gazali (1994) -Anterior Segment Anomalies; Clefting; Skeletal Anomalies?
The typical symptoms of the syndrome are:
How does someone get tested for Al-Gazali (1994) -Anterior Segment Anomalies; Clefting; Skeletal Anomalies?
The initial testing for Al-Gazali (1994) -Anterior Segment Anomalies; Clefting; Skeletal Anomalies 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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