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Symptoms exclusively found within CTF individuals with AMS include [[Agenital|labial hypoplasia]] and [[Secondary Sex Agenesis|absent breasts]], while a symptom exclusively found in CTM individuals with AMS is penile agenesis (an underdeveloped or absent penis.) |
Symptoms exclusively found within CTF individuals with AMS include [[Agenital|labial hypoplasia]] and [[Secondary Sex Agenesis|absent breasts]], while a symptom exclusively found in CTM individuals with AMS is penile agenesis (an underdeveloped or absent penis.) |
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Symptoms that can be found in CTM and CTF individuals with AMS include [[Ambiguous Genitalia|ambiguous genitalia]], absent or small nipples, loose and/or thin skin, wrinkled skin, club feet, fused toes, shortened hands, absent or underdeveloped eyelids, absent eyebrows, absent eyelashes, fine hair, small ears, nasal abnormalities, large teeth, lip abnormalities, and underdeveloped cheekbones and/or jawbones. They may also be [[Disabled|blind and/or deaf, or have other sight and/or hearing impairments]].<ref>https://rarediseases.info.nih.gov/diseases/3/ablepharon-macrostomia-syndrome</ref> |
Symptoms that can be found in CTM and CTF individuals with AMS include [[Ambiguous Genitalia|ambiguous genitalia]], absent or small nipples, loose and/or thin skin, wrinkled skin, club feet, fused toes, shortened hands, absent or underdeveloped eyelids, absent eyebrows, absent eyelashes, fine hair, small ears, nasal abnormalities, large teeth, lip abnormalities, and underdeveloped cheekbones and/or jawbones. They may also be [[Disabled|blind and/or deaf, or have other sight and/or hearing impairments]].<ref>{{Archive|URL=2022.02.13-075712/https://rarediseases.info.nih.gov/diseases/3/ablepharon-macrostomia-syndrome}}</ref> |
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This variation is similar to [[Barber Say Syndrome]] and [https://rarediseases.info.nih.gov/diseases/121/index Facial Ectodermal Dysplasia]. |
This variation is similar to [[Barber Say Syndrome]] and [https://rarediseases.info.nih.gov/diseases/121/index Facial Ectodermal Dysplasia]. |
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== Causes == |
== Causes == |
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AMS is caused by mutations in the ''TWIST2'' gene, that affect a highly conserved residue of TWIST2 (twist-related protein 2). TWIST2 is a basic helix-loop-helix transcription factor that binds specific types of DNA. Mutations in the ''TWIST2'' gene alter DNA-binding activity, and could explain many of the phenotypes of AMS. <ref>https://en.wikipedia.org/wiki/Ablepharon_macrostomia_syndrome</ref> |
AMS is caused by mutations in the ''TWIST2'' gene, that affect a highly conserved residue of TWIST2 (twist-related protein 2). TWIST2 is a basic helix-loop-helix transcription factor that binds specific types of DNA. Mutations in the ''TWIST2'' gene alter DNA-binding activity, and could explain many of the phenotypes of AMS. <ref>{{Archive|URL=2022.02.13-075722/https://en.wikipedia.org/wiki/Ablepharon_macrostomia_syndrome}}</ref> |
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== References == |
== References == |
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[[Category:Pages With No History Section]] |
[[Category:Pages With No History Section]] |
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[[Category:Flagless Sexes]] |
[[Category:Flagless Sexes]] |
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[[Category:Sex Category]] |
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