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Proximal Focal Femoral
Deficiency (PFFD)  and
Treachor Collins Syndrome (TCS)

PFFD  & TSC really only have one thing in common.  Our family has connections directly to both.   I am a strong advocate of education when an opportunity presents itself and this page serves that purpose.
Proximal Focal Femoral Deficiency (PFFD)

  • A congenital birth defect that may present with an absent hip, femoral neck, absent femur, or a shortened femur.

  • Is not genetic

  • Has 4 Classes  A-D

  • Treatment can involve limb lengthening, amputation, rotationplasty, prothesis

  • PFFD is Extremely rare only affecting about 1 in 250,000

My son Isaiah was born with PFFD.  I found out at 19 weeks gestation and when he was born I could have written a book based on my research of the subject.  The treatment is different for each case.  Isaiah is a patient at Shriners Hospital in Chicago.   In his case he is Class D and is completely absent his left femur.   Isaiah will always have a prothesis.   We also opted to have Van Ness Rotationplasty done when Isaiah was 5 years old.  In simple terms we had Isaiah's foot rotated to face backward.  In this configuration Isaiah can use his foot to control the lower portion of his prothesis.

Treacher Collins syndrome (TCS) is a rare genetic disorder characterized by distinctive abnormalities of the head and face. Craniofacial abnormalities tend to involve underdevelopment of the zygomatic complex, cheekbones, jaws, palate and mouth which can lead to breathing and feeding difficulties. In addition, affected individuals may also have malformations of the eyes including a downward slant of the opening between the upper and lower eyelids (palpebral fissures) and anomalies of external and middle ear structures, which may result in hearing loss.

  • TCS is a genetic mutation of the  TCOF1 gene

  • Ranges in severity from Mild to Severe

  • TCS affects about 1 in 10000

TCS has been passed down in my family for several generations.   Both myself and Isaiah have been affected by mild TCS.  We have very similar cases.  We both have narrow faces, droopy eyes, receeding chins, and hearing loss.  I wear hearing aids bilaterally and Isaiah wears one.

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