Presentation
Stiffness can also be present without a dilatation, suggesting that it could be an early marker of disease (14). Another important manifestation of MFS is MVP, which is also present in the majority of MFS patients (15,16). [annalscts.com]
Clinical description Patients with IEL are found to have dislocation of the lens, which may present at any age, but may be present from birth. Dislocation of the lens can be very mild leading to late diagnosis. [orpha.net]
Soft-tissue fusion was present in the second through fifth digits of both feet. [emedicine.medscape.com]
Arachnodactyly was present with ulnar camptodactyly and severe contractures of all digits (Figure 1). A decreased range of motion of the major joints was present. [hindawi.com]
Traumatic ectopia lentis generally presents with a red, painful eye secondary to trauma. A detailed family history is required for atraumatic and mildly traumatic presentations. [eyewiki.aao.org]
Skin
- Thin Skin
Skin striae, hyperextensibility, thin skin, or abnormal scarring. Ptosis, myopia, or antimongoloid slant. Varicose veins, hernia, or uterine or rectal prolapse. [rheumatologyadvisor.com]
Similar to other types of EDS, both skin and joints are affected and form the basis of the major criteria. Skin hyperextensibility, atrophic scars, thin skin and easy bruising are part of the cutaneous phenotype in this EDS subtype. [annalscts.com]
- Sparse Hair
Rickets AR 99.89 11 of 11 DONSON Microcephaly-Micromelia Syndrome, Microcephaly, Short Stature, And Limb Abnormalities AR 98.14 26 of 27 DPF2 Coffin-Siris Syndrome AD 99.99 10 of 10 DPH1 Developmental Delay With Short Stature, Dysmorphic Features, And Sparse [igenomix.es]
- Photosensitivity
Stature Syndrome AD 99.72 3 of 3 GNPTAB Mucolipidosis II and III AR 100 279 of 280 GP1BB 22q11.2 Deletion Syndrome AR 74.08 26 of 50 GPC6 Autosomal Recessive Omodysplasia AR 99.92 3 of 3 GTF2E2 Nonphotosensitive Trichothiodystrophy AR 99.98 2 of 2 GTF2H5 Photosensitive [igenomix.es]
Musculoskeletal
- Joint Stiffness
stiffness, short stature SGS: craniosynostosis, arachnodactyly, brachycephaly, pectus deformities, scoliosis, mental retardation, rarely aortic root dilatation Aortic aneurysm, ascending and dissection Acromicric dysplasia Geleophysic dysplasia type [arupconsult.com]
WMS is also characterized by microspherophakia and other ocular abnormalities and joint stiffness. It is caused by a mutation in the FBN1, LTPB2 or ADAMTS10 gene. EDS See above. [rheumatologyadvisor.com]
- Acrocephaly
Physical Skull and face With craniosynostosis, coronal sutures most commonly are involved, resulting in acrocephaly, brachycephaly, turribrachycephaly, flat occiput, and high prominent forehead. [emedicine.medscape.com]
- Flexion Contracture
It is mainly characterized by congenital multiple contractures, characteristic adduction-flexion contractures, clubfoot, characteristic craniofacial features, increased palmar wrinkling, and characteristic cutaneous features including skin hyperextensibility [annalscts.com]
Neurologic
- Language Delays
147 SPECC1L Facial Clefting, Hypertelorism, Opitz Gbbb Syndrome AD 99.66 14 of 14 STAT3 Hyper-IgE Recurrent Infection Syndrome, Permanent Neonatal Diabetes Mellitus AD 100 171 of 171 TANC2 Intellectual Developmental Disorder With Autistic Features And Language [igenomix.es]
Treatment
Treatment of the resulting aphakia may be with contact lenses. [orpha.net]
Treatment Treatment Options: Lens removal may be indicated when vision cannot otherwise be corrected. References References Chandra A, Aragon-Martin JA, Sharif S, Parulekar M, Child A, Arno G. [disorders.eyes.arizona.edu]
Save That Kid's Bag: Treatment of Subluxated Crystalline Lens This award-winning video by Mauricio A. [eyewiki.aao.org]
Standard Therapies Treatment Treatments for SGS are currently limited to symptom management. [rarediseases.org]
Prognosis
Prognosis Visual prognosis depends on the degree of lens dislocation, the age of onset, age of treatment and complications. The documents contained in this web site are presented for information purposes only. [orpha.net]
[…] variability; age dependent Variants The revised Ghent nosology defines causal FBN1 variants Variants segregate with disease in MFS families Few genotype/phenotype correlations MFS with FBN1 variants identified in exons 24-32 generally have a severe prognosis [arupconsult.com]
Prognosis An individual’s prognosis depends on any underlying ocular or systemic disease, the degree of subluxation, and the management strategy pursued. [eyewiki.aao.org]
Treatment Prognosis Marfan syndrome [1][13] Normal life expectancy: if diagnosed early and complications are managed appropriately Cardiovascular complications: Disease progression should be carefully monitored and managed accordingly to prevent cardiovascular [amboss.com]
Valve-sparing operations appear to associate with lower rates of valve-related complications and better long-term prognosis. [rheumatologyadvisor.com]
Etiology
Recently, Cruysberg et al [AJMG 82:201-205 (1999)] reported on monozygotic twin sisters with craniosynostosis and ectopia lentis, supporting a genetic etiology for this association. [nature.com]
Craniosynostosis, the premature fusion of the calvarial bones, has numerous etiologies. Among them, several involve mutations in genes related to the TGFb signaling pathway, a critical molecular mediator of human development. [research.rug.nl]
This was recently reported in monozygotic twin sisters, supporting a genetic etiology for this syndromic association. We report on female first cousins once removed who were born with unilateral coronal synostosis. [onlinelibrary.wiley.com]
As ectopia lentis may be the first sign of a more serious systemic disease, it is important to determine the etiology for appropriate patient management. [eyewiki.aao.org]
Etiology Dislocation of the lens is the result of a loss of zonular fibers. Recessive mutations in the ADAMTSL4 (1q21.2) gene and dominant mutations in FBN1 gene (15q21.1) have been reported to cause IEL. [orpha.net]
Epidemiology
Summary Epidemiology The prevalence of IEL is not known. About 90 cases have been reported to date, primarily in Europeans. [orpha.net]
Pathophysiology
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Marfan syndrome (MFS) is an autosomal dominant genetic disorder affecting the connective tissue that occurs in approximately [mayocliniclabs.com]
Pathophysiology and Management of Cardiovascular Manifestations in Marfan and Loeys-Dietz Syndromes. Int Heart J 2016;57:271-7. [Crossref] [PubMed] Smith K, Gros B. [annalscts.com]
Prevention
[…] to prevent aneurysm progression). [amboss.com]
[…] minus' sign Virchow -triad Use Parentheses water AND (cup OR glass) Add an asterisk (*) at end of a word to include word stems Neuro* will search for Neurology, Neuroscientist, Neurological, and so on Use quotes to search for an exact phrase "primary prevention [read.qxmd.com]
The primary aim of treatment in children is to prevent amblyopia through early correction of refractive errors. Surgical intervention may be considered by experienced ophthalmic surgeons. [orpha.net]
Replacement of the aortic valve may be performed; however, this surgery requires the lifelong use of medications to prevent blood clots (anticoagulation). [rarediseases.org]
In all cases, timely optical correction is important for prevention of amblyopia. [eyewiki.aao.org]