Welcome to fhufs...
This site is to try and explain what FH-UFS is and how we are coping with a child with the syndrome.
when I went for a 16 week scan the midwife found there was a problem, so from then on I saw a doctor, and she found that my baby had a syndrome called femoral hypoplasia-unusual facies syndrome. (A very rare form of Dwarfism, so we were told by aspecialist
When my baby was born she was taken straight to the special care baby unit where she stayed for 3 weeks while we learnt how to tube feed because of her cleft palate, and insert/take out the nasal gastric tube at least a few days a week.
FH-UFS can consist of many abnormalities. I have tried to list as many as I can...
GROWTH: Small stature, predominantly the result of short lower limbs.
FACIAL: Short nose, long philtrum (bit between top lip & nose), thin upper lip, cleft palate, micrognathia(small lower jaw). Due to facial abnormalities problems with feeding and speech may arise.
LIMBS: Short or absent femors and variable asymmetric involvement of fibula and tibia, restricted elbow movement, limited shoulder movement, no knee caps, shortening of humeri, clubfeet.
PELVIS: Hypoplastic acetabulae, vertical ischial axis, constricted ilial base, large obturator foramina.
SPINE: Missing vertebrae and/or hemivertebrae, sacralization of lumber vertebrae. Dysplastic sacrum, scoliosis
GENITOURINARY: Cryptorchidism. Inguinal hernia, small penis, testes, or libia majora. Polycystic kidneys, absent kidneys, abnormal collecting system, recurrent urinary tract infections and incontinence.
OCCASIONAL ABNORMALITIES: Astigmatism; Esotropia, Tapered; Fused, or missing ribs; cardiac defects, including ventricular septal defect, pulmonary stenosis, and truncus aterious, craniosynostosis, spina bifida, preaxial polydactyly
NATURAL HISTORY: Though there may be problems in speech development, they have normal intelligence. And if they have the willpower and strength they will walk no-matter what the doctors say.
POSTNATAL MANAGEMENT: This is directed at the orthopedic, facial, cardiac and genitourinary complications.
POSSIBLE CAUSES: Maternal diabetes has been documented frequently as the cause for this syndrome, the vast majority of cases are sporadic so it is thought of as a dominant inheritance. Possibility of maternal hyperglycemia or glucose homemstasis being the teratogenic factor in FH-UFS, also fetal constriction or compression due to severe olighydramnios
Samantha also has Pierre Robin Syndrome which causes her to have a cleft palette and a small lower jaw which caused alot of her feedng problems
I would just like to add that I am not a doctor but a parent. I struggled for a long time to find information about this syndrome and figured it may help if I did one myself I have done hours of research on this to give you the most input I possibly could, so I hope this helps you.
Please note not all of these abnormallities occure all together
I have translated most of the abnormalities so they are easier to understand -
Vertical Ischial Axis-
(Ischial) one of the three sections of the hipbone: situated below the ilium. (Axis) the second cervical vertabrae serves as a pivot for the turning head.
Constricted Ilium Base-
Tighten or narrowing of the lower part of the upper and widest of the three bones making up the hipbone
Large Obturator Foramina-
Large closure of an opening (foramina) a general term for such a passage, especially one into or through a bone.
(Dysplastic) abnormal tissue developmen; (sarum) wedge shaped bone, five fused vertabrae forming the posterior part of the pelvis: it's base connects with the lowest lumbar vertabra and its tip with the coccyx
Failure of one or more testes to move into the scrotum as the male fetus develops.
Hernia in which a loop of intestine enters the inguinal canal: the most common type of hernia in males.
A progressive disease characterized by formation of multiple cysts of varying size scattered diffusely throughout both kidneys
A common form of visual impairment in which part of an image is blurred, due to an irregularity in the curvature of the front surface of the eye, the cornea. Significant astigmatism can cause headaches and eye strain and seriously blurred vision. This can be corrected with lenses.
(Basically means cross-eyed) one or both eyes turn inward toward the nose.
Ventricular Septal Defect-
A common congenital heart defect: an abnormal opening in the septum dividing the ventricals allows blood to pass directly from the left to the right ventricle: large openings may cause congestive heart failure.
Narrowing of the opening between the pulmonary artery and the right ventricle, usually at the level of the valve leaflets.
It is characterized by a large ventricular septal defect over which a large, single great vessel (truncus) arises. This single great vessel carries blood both to the body and to the lungs.
Premature fusion of the cranial sutures (the fibrous joints between the bones of the skull) in an infant, preventing normal growth of the baby's head. Craniosynostosis involving some but not all of the sutures causes an abnormally shaped skull. Premature closure of all the sutures results in microcephaly (an abnormally small head). Which arrests the normal growth and development of the baby's brain and may result in development delay and mental retardation. Early detection of the condition is therfore of great importance.
(Polydactyly) birth defect characterized by the presence of more than the normal number of fingers or toes
Scant amniotic fluid: alot less than normal