Paula and Bobby
Parents of Lillie
Amastia, Bilateral, with Ureteral Triplication and Dysmorphism
What is Amastia, Bilateral, with Ureteral Triplication and Dysmorphism?
Amastia, Bilateral, with Ureteral Triplication and Dysmorphism is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
A mother and son were reported by Rich et al., (1987) with triplication of the ureters, amastia, pectus excavatum, PDA, umblical hernia, tapering digits, syndactyly of fingers and toes and facial abnormalities. The latter consisted of hypertelorism, down-slanting palpebral fissures, epicanthic folds, low-set ears, a high-arched palate, and a flat broad nasal bridge. The authors say that the inheritance of the condition is autosomal dominant, but there were no other affected family members. The mother's father was 60 when she was born, suggesting a new autosomal or X-linked mutation.
* This information is courtesy of the L M D.
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What gene changes cause Amastia, Bilateral, with Ureteral Triplication and Dysmorphism?
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.
OMIM Number - 104350 (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 Amastia, Bilateral, with Ureteral Triplication and Dysmorphism?
The typical symptoms of the syndrome are:
Low-set ears, Mitral valve prolapse, Pectus excavatum, Umbilical hernia, Ptosis, Ureteral triplication, Scoliosis, Hydrocephalus, High palate, Hydronephrosis, Depressed nasal bridge, Hemivertebrae, Hypertelorism, Absent nipple, Wide nasal bridge, Autosomal dominant inheritance, Syndactyly, Patent ductus arteriosus, Congenital hip dislocation, Downslanted palpebral fissures, Epicanthus, Cubitus valgus
How does someone get tested for Amastia, Bilateral, with Ureteral Triplication and Dysmorphism?
The initial testing for Amastia, Bilateral, with Ureteral Triplication and Dysmorphism 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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