Presentation
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]
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 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]
Entire Body System
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Short Stature
People with this condition may also have distinctive facial features, extra folds of skin on the neck, and short stature. Intelligence and life expectancy are not usually affected. [rarediseases.info.nih.gov]
Other features that may occur in Sheldon-Hall syndrome include extra folds of skin on the neck (webbed neck) and short stature. [ghr.nlm.nih.gov]
Musculoskeletal
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Decrease in Height
[…] 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 segmentation defect 0003422 Wide nasal bridge Broad nasal [rarediseases.info.nih.gov]
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Flexion Contracture
However, flexion contractures can worsen over time in the absence of appropriate intervention (e.g., occupational therapy, physical therapy, surgery). [ojrd.biomedcentral.com]
Face, Head & Neck
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Broad Nasal Bridge
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 bridge [ [rarediseases.info.nih.gov]
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Short Neck
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]
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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]
Treatment
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]
Management There is no specific treatment for SHS. The contractures occur early in development and they improve postnatally. [ojrd.biomedcentral.com]
Prognosis
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]
Etiology
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
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]
Prevention
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]
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]
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]