Discussions By Condition: I cannot get a diagnosis.

gapo sindrome?

Posted In: I cannot get a diagnosis. 4 Replies
  • Posted By: Anonymous
  • June 15, 2010
  • 09:22 PM

my neice, 3 years old girl now, has a severe form of atopic dermatitis and she lost completely her scalp hair, eyelashes and eyebrows about 9 month ago, and never regrowth. In adition she has some skeletal abnormalitis such as: anterior fontanel wide open, protuding forehead, plane nasal bridge , high palate, tonnel chest, supernumerary costal.
Her geneticist doctor is suspecting "gapo syndrome". Could anybody help me to confirm or rule out the diagnosis.

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4 Replies:

  • i don think its gapo .. cos the components of gapo are 1. growth retardation2.alopecia3. pseudoanodontia{failure of tooth eruption )4.optic atrophy ur niece has only alopecia .. so ask d doctor to try out other diseases .. does she have any history of genetic disorders ?
    arjun4mb 80 Replies Flag this Response
  • my neice, 3 years old girl now, has a severe form of atopic dermatitis and she lost completely her scalp hair, eyelashes and eyebrows about 9 month ago, and never regrowth. In adition she has some skeletal abnormalitis such as: anterior fontanel wide open, protuding forehead, plane nasal bridge , high palate, tonnel chest, supernumerary costal. Her geneticist doctor is suspecting "gapo syndrome". Could anybody help me to confirm or rule out the diagnosis. Hiwrong diagnosis has a very good set of pages about Gapo syndrome.At three she should have all her baby teeth. So one thing you could look at is her teeth. Does she have any?Gapo people tend to have teeth that do not errupt through the gums. So if you can feel ridges in her mouth like there are teeth that have not come through the gum yet then that is a sign that she could have this syndrome.If she has all her baby teeth then she probably does not have Gapo.best wishes
    chrismia 159 Replies Flag this Response
  • Tanks both for your reply.I read a lot about gapo syndrome, here and in other sites,but i have still my dubts.About any genetic history, i can't know, because she is adopted.About her teeth, yes she has one missing incisive, but the Rx is not clear In the other hand, she has not growth retarded or retarded bone age, niether she has any optic or eye patology, dilated scalp veins, etc thanks again
    Anonymous 42789 Replies Flag this Response
  • I been reading a lot about Gapo syndrome this days and i trascribe below all the symptoms that i found. Marked with and x are those positive for my niece Reduced birth length Growth retardation Retarded bone age Short final staturex Absence of scalp hair? Non-erupting teeth Dilated scalp veinsx Protruding foreheadx Anterior fontanel wide openx Underdeveloped mid-face Optic atrophy Glaucoma Keratoconus Papilledema Umbilical hernia Hypogonadism Reduced hormone production by ovaries/testes Polycystic kidneyx Recurrent ear infectionsx Recurrent eye infectionsx Recurrent respiratory infections Enlargement of the metaphyses Shortening & prominent arch of the long bone Short square iliac Alteration of the thoracic and lumbar vertebrae Enlargement of the costal archesx Bell-shaped / funnel chest Enlargement of the proximal part of the clavicle ? Parental consanguinity
    Anonymous 42789 Replies Flag this Response
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