Aarskog syndrome
Aarskog syndrome
An X-linked recessive-MIM 305400 condition characterised by short stature, facial abnormalities—ocular hypertelorism, broad nose, long philtrum, hypoplastic maxilla, low-set drooping ears, anteverted nostrils, broad upper lip, curved linear dimple below the lower lip, patientosis, down-slanted palpebral fissures, ophthalmoplegia, strabismus, hyperopic astigmatism, large cornea, cleft lip/palate.Molecular pathology
Mutation in FGD1 on chromosome p11.21, which encodes a protein that stimulates the GDP-GTP exchange of the isoprenylated Cdc42Hs, as well as the mitogen activated proteinkinase cascade leading to c-Jun kinase SAPK/JNK1 activation.
Other findings include cryptorchidism, proximal finger-joint hyperextensibility, flexed distal finger joints, stretchable skin, shawl and/or saddle-bag scrotum, widow’s peak hair, brachydactyly, digital contractures, clinodactyly, mild syndactyly, transverse palmar crease, lymphoedema of the feet, ligament laxity, osteochondritis dissecans, genu recurvatum, flat feet, cervical spine hypermobility, odontoid anomaly, macrocytic anemia, hemochromatosis, hepatomegaly, portal cirrhosis, imperforate anus, rectoperineal fistula, interstitial lung disease, sternal deformity.
Aarskog syndrome
Aarskog-Scott syndrome, Faciodigitogenital syndrome An X-R or AD condition characterized by short stature, facial abnormalities–ocular hypertelorism, broad nose, long philtrum, hypoplastic maxilla, low-set floppy ears, anteverted nostrils, broad upper lip, curved linear dimple below the lower lip, ptosis, down-slanted palpebral fissures, ophthalmoplegia, strabismus, hyperopic astigmatism, large cornea, lop-ears, cleft lip/palate, cryptorchidism, proximal finger joint hyperextensibility, flexed distal finger joints, stretchable skin, shawl and/or saddle-bag scrotum, widow's peak hair, brachydactyly, digital contractures, clinodactyly, mild syndactyly, transverse palmar crease, lymphedema of the feet, ligament laxity, osteochondritis dissecans, genu recurvatum, flat feet, cervical spine hypermobility, odontoid anomaly, macrocytic anemia, hemochromatosis, hepatomegaly, portal cirrhosis, imperforate anus, rectoperineal fistula, interstitial lung disease, sternal deformityPatient discussion about Aarskog syndrome
Q. Is it normal to have abused alcohal. go threw 3 years of a.a. and come out of it a controled drinker?
Q. my gf is in aa she says that it and her friends come before me the meetings yes friends?im a comitment too? ive done studing on it and i am still ignorant to it but its not that i havent tried but she says the meeting come before me wich i think is right but she also puts her friends way before me.I read that in the big book it talks about commitments the the program and to other things in your life kids family staying sober..... but if you bring a man or woman into your life that isnt an acholic isnt it your job to update them on the program so that they understand to? She makes alot of plans with me then if a aa friend calls and wants to hang out im out of the pitcure and her friends are in she says that there her life thats her relationships and the program and that she should be dating in aa becouse they understan. I tell her she brought me into her life so she has to make time for me and she should want me as much as she wants her friends it a her way and the program or no way. after meetings (4-5 times a week)she hangs out with them tell 1-2 in the morn. Now this is my ignorance on the program but where does the program say to pick ure commitments on which is the ones you only want to do? Also does the program teach you to be self reliant on the choices you make in life becouse anything she does she has to ask her friends and sponser the relationship is with me its your life why cant they make there own choices? I hope im not offending anyone its not my means i just have questions if asking her it starts a fight. Thank you