Paula and Bobby
Parents of Lillie
Acro-renal-ocular - thumb anomalies; renal ectopia; colobomas
What is Acro-renal-ocular - thumb anomalies; renal ectopia; colobomas?
Acro-renal-ocular - thumb anomalies; renal ectopia; colobomas is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
A family was reported by Halal et al., (1984) in which acro-renal anomalies segregated with eye defects. Of the seven affected members three had eye manifestations. In one there was a bilateral Duane anomaly with unilateral ptosis, one had bilateral uveal coloboma with microcornea, and one had a unilateral coloboma of the optic nerve. All seven had acral anomalies. Four had mild hypoplasia of the tip of the thumb and limited flexion of the thumb joint. One had a pre-axial polydactyly and one had severe hypoplasia of the thumb. Urinary tract anomalies were present in all. Two had renal ectopia and a further two had mild malrotation. Reflux occurred in one and bladder diverticulae in one other. There are similarities to the Duane-radial dysplasia syndrome (Becker et al., 2002).
Pierquin et al., (1991) reported an 18-month-old girl with developmental delay, hypoplastic thumbs, retinal colobomata, cleft lip and palate, an absent kidney with reflux on the opposite side, eleven pairs of ribs with 'fusion of all the posterior arches', absence of the anterior arch of the atlas and malformed posterior arches of the lower cervical vertebrae. The authors suggested that the case fell into the acro-renal-ocular spectrum, but there are also similarities to the Kapur-Toriello syndrome (qv).
Guillen-Navarro et al., (1998) reported a mother and son with features of the condition. The son had absent radii, dysplastic kidneys, a dysplastic corpus callosum and delayed myelination.
Ullah et al. (2016) described a female with unilateral microphthalmia and coloboma, bilateral optic nerve hypoplasia, ventricular and atrial septal defect and growth delay, carrying two missense variants in trans in SALL4. Both carrier parents were asymptomatic.
* This information is courtesy of the L M D.
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What gene changes cause Acro-renal-ocular - thumb anomalies; renal ectopia; colobomas?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
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 Acro-renal-ocular - thumb anomalies; renal ectopia; colobomas?
The typical symptoms of the syndrome are:
How does someone get tested for Acro-renal-ocular - thumb anomalies; renal ectopia; colobomas?
The initial testing for Acro-renal-ocular - thumb anomalies; renal ectopia; colobomas 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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