Femoral Facial Syndrome

JoelTheGiant
JoelTheGiant Scope Member Posts: 10 Connected
edited March 2022 in Rare, invisible, and undiagnosed conditions
Hi. My name is Joel, I'm 19 and I have a rare condition called Femoral Hypoplasia-Unusual Facies Syndrome (FHUFS). It means that my femors (upper leg bones) are very short. I also have a load of other symptoms because it's a syndrome. These include club feet, fingers that don't straighten, small ears, cleft palette and scoliosis.

Comments

  • SueHeath
    SueHeath Community member Posts: 12,388 Championing
    Welcome to the group @JoelTheGiant i'm loving the user name.
    Hope you get chance to have a good look around the site, i look forward to seeing you around.
  • Tori_Scope
    Tori_Scope Scope Posts: 12,443 Championing
    Welcome to the community @JoelTheGiant :) How's your weekend been going so far? 

    Thank you for giving an explanation of your condition. I don't think I'd heard of FHUFS before, so I found your description helpful! How do you find living with FHUFS? 
  • littleacorn
    littleacorn Community member Posts: 383 Empowering
    Hi I was intrigues by your condition of FHUFS as I have never heard of this but there is some simularities to my condition which is bilateral Proximal femoral focal dyficiency (PFFD) especially the short thighs. I never had a diagnosis until I was around 55 years old and it was me who approached professionals and pointed out the characteristics. My GP first dismissed it but eventually referred me to a surgeon who never said I had the condition just spelt out the anomilies in my body. It still leaves me with the question as to is this the name of my condition or am I missing something.
  • JoelTheGiant
    JoelTheGiant Scope Member Posts: 10 Connected
    Tori_Scope said:
    Welcome to the community @JoelTheGiant :) How's your weekend been going so far? 

    Thank you for giving an explanation of your condition. I don't think I'd heard of FHUFS before, so I found your description helpful! How do you find living with FHUFS? 
    I always struggle to answer questions like this, since I was born with the condition so I haven't experienced not having it. (I hope that makes sense!)
    I'm a full-time wheelchair user although I do often get out of my chair and move on my hands.
    It took me a while to embrace my disability but now I'm quite proud of being disabled and I wouldn't want to be able-bodied.
  • JoelTheGiant
    JoelTheGiant Scope Member Posts: 10 Connected
    Hi I was intrigues by your condition of FHUFS as I have never heard of this but there is some simularities to my condition which is bilateral Proximal femoral focal dyficiency (PFFD) especially the short thighs. I never had a diagnosis until I was around 55 years old and it was me who approached professionals and pointed out the characteristics. My GP first dismissed it but eventually referred me to a surgeon who never said I had the condition just spelt out the anomilies in my body. It still leaves me with the question as to is this the name of my condition or am I missing something.
    Funny enough, I was talking about this with my mum today. She always thought I was misdiagnosed since I'm much smaller than others with my condition. I understand where she's coming from but I think my short size could be due to scoliosis making my torso smaller. Either way, I don't mind because it doesn't have too much of an impact on me. I don't need treatments or medication for it so a different diagnosis wouldn't change anything.

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