However, there is a broad spectrum of variability in the clinical presentation of FSS to the extent that only orofacial manifestations of the disease can be present without abnormalities of the limbs [12]; thus genetic analysis is often needed to reinforce [hindawi.com]

Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. [rarediseases.org]

The specific hand and foot abnormalities vary among affected individuals; the abnormalities are present at birth and generally do not get worse over time. [ghr.nlm.nih.gov]

The clinical presentation is highly variable both within and between families. Still, in most cases the clinical diagnosis of SHS is based on the pattern of contractures observed at birth, which are usually limited to hands and feet. [ojrd.biomedcentral.com]

The present hall was built by Sir Edward Digby for his son on the site of an older hall known as the East Hall. [en.wikipedia.org]

• Short Stature

  […] neck Decreased length of neck 0000470 Short stature Decreased body height Small stature [ more ] 0004322 Tarsal synostosis Fused ankle bones 0008368 Ulnar deviation of finger Finger bends toward pinky 0009465 Ulnar deviation of the wrist 0003049 Vertebral [rarediseases.info.nih.gov]

• Single Transverse Palmar Crease

  Showing of 37 | Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Adducted thumb Inward turned thumb 0001181 Aplasia/Hypoplasia of the radius 0006501 Bilateral single transverse palmar creases 0007598 Joint stiffness Stiff [rarediseases.info.nih.gov]

• Decrease in Height

  0000411 Round ear 0100830 Short neck Decreased length of neck 0000470 Short stature Decreased body height Small stature [ more ] 0004322 Tarsal synostosis Fused ankle bones 0008368 Ulnar deviation of finger Finger bends toward pinky 0009465 Ulnar deviation [rarediseases.info.nih.gov]

• Joint Stiffness

  Showing of 37 | Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Adducted thumb Inward turned thumb 0001181 Aplasia/Hypoplasia of the radius 0006501 Bilateral single transverse palmar creases 0007598 Joint stiffness Stiff [rarediseases.info.nih.gov]

• Flexion Contracture

  Contractures are most severe at birth and non-progressive. However, flexion contractures can worsen over time in the absence of appropriate intervention (e.g., occupational therapy, physical therapy, surgery). [ojrd.biomedcentral.com]

• Broad Nasal Bridge

  bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal [rarediseases.info.nih.gov]

• Bulbous Nose

  Other facial findings include small mouth, high nasal bridge, prominent nasolabial folds, bulbous nose, malar hypoplasia, facial asymmetry, hypertelorism, and posteriorly angulated ears or some other ear abnormalities [4]. [ojrd.biomedcentral.com]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Prognosis[edit] There are little data on prognosis. Rarely, some patients have died in infancy from respiratory failure; otherwise, life expectancy is considered to be normal. [en.wikipedia.org]

We highlight the different features present in our patient and describe the etiology of the Freeman–Sheldon phenotype and how its clinical complications can be dealt with. [hindawi.com]

Epidemiology The prevalence of arthrogryposis is about 1/3000 [3]. [ojrd.biomedcentral.com]

Further research is wanted to determine epidemiology of psychopathology in FSS and refine therapy protocols. [en.wikipedia.org]

Mutations in the MYH3, TNNI2, TNNT3, or TPM2 gene likely interfere with normal muscle development or prevent muscle contractions from being properly controlled, resulting in the contractures and other muscle and skeletal abnormalities associated with [ghr.nlm.nih.gov]

Bilateral commissurotomy followed by the use of a patient customized dynamic oral commissure retractor has been effective in dealing with microstomia and preventing recurrence due to scar contracture that occurs months following surgical intervention [hindawi.com]

The mechanism by which mutations in TNNI2 cause contractures is unclear but troponin I binds to actin and tropomyosin, and in the absence of Ca2+ prevents muscle contraction. [ojrd.biomedcentral.com]