Paula and Bobby
Parents of Lillie
Aniridia - microphthalmia; microcephaly - Edwards (1984)
What is Aniridia - microphthalmia; microcephaly - Edwards (1984)?
Aniridia - microphthalmia; microcephaly - Edwards (1984) is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
This entity refers to the association of anophthalmia and aniridia, with other dysmorphic features, in members of a family over three generations. The dysmorphic features included microcephaly, a small jaw, a bulbous nose and mild to severe mental retardation. The ears were said to be anteflexed and some of those affected had choanal atresia. In some the globes were absent and the eyelids fused, whereas in others there was aniridia, congenital cataracts, amblyopia, nystagmus, photophobia, a vascularised corneal panus and aplasia of the macula. A CT scan on one showed temporal cephalomalacia, a Dandy-Walker malformation and an absent inferior vermis. At post-mortem examination the corpus callosum was absent, the optic nerves were small, and there was heterotopia. The variability in this family has led to a suggestion that some of those affected did not have the same condition. Sassani and Yanoff (1977) reported a male infant with a somewhat similar condition who also had oesophageal atresia, choanal stenosis, tetralogy of Fallot and a persistent left superior vena cava.
Ulman et al., (1996) also reported a child with microphthalmia associated with oesophageal atresia. This child also had hypospadias.
Glaser et al., (1994) reported two separate PAX6 mutations in the family reported by Edwards et al., (1984) and demonstrated that the proband in the family, with anophthalmia, craniofacial and brain abnormalities was a compound heterozygote.
This condition may be dosage effect of homozygosity or mutations within both alleles of PAX6.
* This information is courtesy of the L M D.
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What gene changes cause Aniridia - microphthalmia; microcephaly - Edwards (1984)?
The syndrome is inherited in the following inheritance pattern/s:
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.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Aniridia - microphthalmia; microcephaly - Edwards (1984)?
The typical symptoms of the syndrome are:
How does someone get tested for Aniridia - microphthalmia; microcephaly - Edwards (1984)?
The initial testing for Aniridia - microphthalmia; microcephaly - Edwards (1984) 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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