Paula and Bobby
Parents of Lillie
Acromelic Frontonasal "dysplasia"
What is Acromelic Frontonasal "dysplasia"?
Acromelic Frontonasal "dysplasia" is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
This condition has many features in common with acrocallosal, Meckel and hydrolethalus syndromes. It is well reviewed by Verloes et al., (1992). The main features are frontonasal dysplasia, preaxial polydactyly of the feet, postaxial polydactyly, a posterior encephalocoele, agenesis of the corpus callosum, Dandy-Walker malformation, tibial hypoplasia, and an epibulbar dermoid. Not all cases have a 'full-house' so that differentiation from the above syndromes can be difficult - see Toriello et al., (1986), for example. Most cases are sporadic, but Warkany et al., (1973) reported affected maternal half-sisters and Gorlin et al., (1990) mention affected identical twins and parental consanguinity in unpublished cases. The family reported by Hing et al., (2004), had an affected father who was mild (gap between maxillary incisors and broad/bifid nasal tip and wide feet) and an affected paternal grandfather (and possibly a mildly affected cousin).
The girl reported by Sueldo and Fernandes (1993) most likely had this condition (Verloes, 1994). She had, in addition, an absent left tibia and crossed-fused renal ectopia with duplication of the collecting system. Five further cases were reported by Slaney et al., (1999) together with a good review. A case mentioned by Rittler and Castilla (2000), had a postaxial polydactyly. THe single case reported by Hing et al., (2004), had a preaxial polydactyly.
Mutations have now been found in ZSWIM6 (Smith et al., 2014).
* This information is courtesy of the L M D.
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What gene changes cause Acromelic Frontonasal "dysplasia"?
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.
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.
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 Acromelic Frontonasal "dysplasia"?
The typical symptoms of the syndrome are:
How does someone get tested for Acromelic Frontonasal "dysplasia"?
The initial testing for Acromelic Frontonasal "dysplasia" 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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