Paula and Bobby
Parents of Lillie
Acrofrontofacionasal Dysostosis 2
What is Acrofrontofacionasal Dysostosis 2?
Acrofrontofacionasal Dysostosis 2 is a rare disease. It is also known as Acrofrontofacionasal Dysostosis With Genitourinary Anomalies Affn Dysostosis 2; Affnd2 Hypertelorism - hypospadias - polysyndactyly syndrome Hypertelorism, Hypospadias, And Polysyndactyly Syndrome Naguib-richieri-costa Syndrome.
Naguib (1988) described two brothers and a sister, the offspring of first cousin Arab parents, with a condition that resembled Aarskog syndrome, but with normal stature and polysyndactyly. There was hypertelorism, upward or downward slanting palpebral fissures, ptosis and a widow's peak. The nose was short with anteverted nostrils and a broad bridge. The males had hypospadias and a shawl scrotum. The proposita had right-sided pre-axial polydactyly, bilateral 3-4 cutaneous syndactyly and long halluces. One male sib had similar limb abnormalities, the other mild syndactyly only. Teebi (1992) has suggested that Richieri-Costa (1989) (qv) is the same condition.
* This information is courtesy of the L M D.
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What gene changes cause Acrofrontofacionasal Dysostosis 2?
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.
OMIM Number - 239710 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Acrofrontofacionasal Dysostosis 2?
The typical symptoms of the syndrome are:
Autosomal recessive inheritance, Hand polydactyly, Posteriorly rotated ears, Overfolded helix, Syndactyly, Preaxial hand polydactyly, Sacral dimple, Thickened nuchal skin fold, Wide anterior fontanel, Widow's peak, Shawl scrotum, Preaxial foot polydactyly, Microcephaly, Redundant neck skin, Proptosis, Ptosis, Abnormal toenail morphology, Bifid scrotum, Abnormality of the fontanelles or cranial sutures, Eyelid coloboma, Wide nose, Broad hallux, Broad thumb, Brachycephaly, Encephalocele, Downslanted palpebral fissures, Displacement of the urethral meatus, Finger syndactyly, Depressed nasal ridge, Low-set ears, Long philtrum, Low-set, posteriorly rotated ears, Abnormality of neuronal migration, Hypertelorism, High palate, Broad forehead, Glaucoma, Short stature, Hypospadias
How does someone get tested for Acrofrontofacionasal Dysostosis 2?
The initial testing for Acrofrontofacionasal Dysostosis 2 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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