i'm a female.....and i'm 19 i was wodering well i was born with a Treacher-Collins Syndrome but my face is not that bad.... not way too mess up either and my body and every of my body parts is normal like everybody else but if i get pregnant with a normal guy that was born 100% normal how would the babies come out?
I've heard of Treacher-Collins, it can cause facial deformities as well as others right?
You should really speak W/a genetic counsellor, i've got a genetic skin condition, more rare than treacher collins (1:2000)
Mine is called Epidermolytic Hyperkeratosis(EHK) and it's 1:300,000 and hereditary like yours,
TC can be caused by either a spontanous genetic mutation, or inherited from a parent. My disorder is the same cause it's autosomal dominant.
I have a %50/50 chance of passing it on to my baby, I'm pregnant right now, 9 weeks. i'm 21 yrs old.
I got this off the web for you (I know it's alot of info, sorry)- Disease characteristics. Treacher Collins syndrome (TCS) is characterized by hypoplasia of the zygomatic bones and mandible, external ear abnormalities, coloboma (notching) of the lower eyelid, absence of the lower eyelid cilia, and preauricular hair displacement. About 40%-50% of individuals have conductive hearing loss attributed most commonly to malformation (including ankylosis, hypoplasia, or absence) of the ossicles and hypoplasia of the middle ear cavities. Inner ear structures tend to be normal. Other less common abnormalities include cleft palate with or without cleft lip and unilateral or bilateral choanal stenosis or atresia.
Diagnosis/testing. TCOF1 is the only gene currently known to be associated with TCS. Direct sequencing of the coding and flanking intronic regions of TCOF1 detects mutations in about 90%-95% of individuals.
Genetic counseling. TCS is inherited in an autosomal dominant manner. About 60% of probands with TCS have the disorder as the result of a de novo gene mutation. Each child of an individual with TCS has a 50% chance of inheriting the mutation. Prenatal diagnosis for pregnancies at increased risk for TCS is possible
All this means that you have a %50/50 chance of having a baby w/it like I do w/my skin problem. It'll require that you get prenatal testing like CVS or an amnioscentisis done when your 11 or 16 weeks pregnant.
You should email me. Click my name and message me, and I can give you as much advice as is possible for me, since I'm not a doctor. (I just LOVE anything medical.)
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