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]

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]

SGS patients may also present with cardiac anomalies such as valve regurgitation or prolapse and aortic root dilation and aneurysm. [rarediseases.org]

Skin Hyperextensive skin Formation of striae (stretch marks) Eyes Visual impairment: ectopia lentis (lens dislocation) → lens subluxation superiorly and temporally Severe myopia Retinal detachment Glaucoma Early cataract formation Other The classic presentation [amboss.com]

• Tall Stature

  MFS is associated with disorders of the cardiovascular system (e.g., mitral valve prolapse, aortic aneurysm, and dissection), the musculoskeletal system (e.g., tall stature with disproportionately long extremities, joint hypermobility), and the eyes [amboss.com]

  Certain athletes, including basketball and volleyball players, may be suspected based on their tall stature. The vast majority of tall athletes do not have Marfan syndrome. [acc.org]

  There was no tall stature, no arachnodac-tyly, and no cardiac manifestations. Besides, our pa-tients do not have the sam [fdocuments.in]

  Skeletal findings may include tall stature, chest wall deformity, scoliosis, and joint hypermobility. [mayocliniclabs.com]

• Atrial Septal Defect

  The other cousin was also born with unilateral coronal synostosis, an atrial septal defect and mitral valve prolapse. She has only mild myopia. Both females are of normal intelligence. [nature.com]

  The other cousin had an atrial septal defect, mitral valve prolapse, and only mild myopia. Their intelligence is normal. [onlinelibrary.wiley.com]

  Congenital heart malformations are often noted, with bicuspid aortic valve, patent ductus arteriosus and atrial septal defect occurring most often. These congenital heart malformations are only rarely seen in MFS. [annalscts.com]

• Crying

  The term ectopia lentis is used whenever the crys-talline lens is loose or out of place, irrespective of cause.Bilateral cases are usually of genetic origin and may occur as an isolated lens anomaly (e.g., ectopia lentissimplex), as part of an ocular [fdocuments.in]

• Pulmonary Valve Stenosis

  In LDS patients, pulmonary valve stenosis could also develop over time (21). [annalscts.com]

• Vomiting

  Headache and vomiting are signs of acute increased intracranial pressure, especially in cases of multiple suture involvement. [emedicine.medscape.com]

• Diarrhea

  Gastrointestinal symptoms are mostly observed in the hypermobile type of EDS, but are occasionally present in patients with classical EDS, and include dysphagia, reflux, constipation, and diarrhea (47). [annalscts.com]

• Mitral Valve Prolapse

  […] dysfunction, pulmonary emphysema, joint contractures, crumpled ears, and loose skin MFS phenotype with severe congenital lipodystrophy and progeroid-like appearance Mitral valve prolapse syndrome: mitral valve prolapse, pectus excavatum, scoliosis, mild [arupconsult.com]

  The other cousin was also born with unilateral coronal synostosis, an atrial septal defect and mitral valve prolapse. She has only mild myopia. Both females are of normal intelligence. [nature.com]

  The other cousin had an atrial septal defect, mitral valve prolapse, and only mild myopia. Their intelligence is normal. [onlinelibrary.wiley.com]

  Lens dislocation occurs in approximately 60% of people with Marfan syndrome.2 The majority of Marfan patients have mitral valve prolapse. [acc.org]

  Cardiovascular Heart valve defects (particularly mitral valve prolapse) Cystic medial degeneration: can lead to aortic dilation, aneurysms, or dissection Aneurysms/dissections of the iliac, splenic, or renal arteries Berry aneurysms: rupture leads to [amboss.com]

• Ectopia Lentis

  The association of craniosynostosis with ectopia lentis is rare. A review of the literature revealed that most reported cases of craniosynostosis with ectopia lentis are sporadic in nature. [nature.com]

  These findings need to be confirmed in further cases with craniosynostosis and ectopia lentis. [tandfonline.com]

  These findings need to be confirmed in further cases with craniosynostosis and ectopia lentis. Similar articles A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation. [pubmed.ncbi.nlm.nih.gov]

  Ectopia lentis has rarely been reported in iso-lated cases of craniosynostosis [Pesme et al., 1950; Rei- Fig. 3. Ectopia lentis in Patient 2. [fdocuments.in]

• Prolapse

  […] syndrome: mitral valve prolapse, pectus excavatum, scoliosis, mild arachnodactyly Familial ectopia lentis: bilateral ectopia lentis, sometimes scoliosis MASS syndrome: mitral valve prolapse, aortic enlargement, skin, skeletal findings Weill-Marchesani [arupconsult.com]

  The other cousin was also born with unilateral coronal synostosis, an atrial septal defect and mitral valve prolapse. She has only mild myopia. Both females are of normal intelligence. [nature.com]

  MFS is associated with disorders of the cardiovascular system (e.g., mitral valve prolapse, aortic aneurysm, and dissection), the musculoskeletal system (e.g., tall stature with disproportionately long extremities, joint hypermobility), and the eyes [amboss.com]

  The other cousin had an atrial septal defect, mitral valve prolapse, and only mild myopia. Their intelligence is normal. [onlinelibrary.wiley.com]

  Varicose veins, hernia, or uterine or rectal prolapse. [rheumatologyadvisor.com]

• Retinal Pigmentation

  Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation. Collin GB, Hubmacher D, Charette JR, Hicks WL, Stone L, Yu M, Naggert JK, Krebs MP, Peachey NS, Apte SS, Nishina PM. [pubmed.ncbi.nlm.nih.gov]

• Iridodonesis

  Slit lamp examination showed sublux-ated lenses with iridodonesis and phakokinesis. How-ever, the margins of the lenses were not visible due topoor pupillary dilatation with mydriatic and cyclople-gic eyedrops. [fdocuments.in]

• Visual Impairment

  impairment: ectopia lentis (lens dislocation) → lens subluxation superiorly and temporally Severe myopia Retinal detachment Glaucoma Early cataract formation Other The classic presentation of MFS includes aortic aneurysm or dissection, long extremities [amboss.com]

• Normal Stature

  Thefundus was normal in both eyes. Echography showedaxial lengths of 21 mm in both eyes. Physical exami-nation at 4 years demonstrated normal stature (height96 cm, 10th centile). [fdocuments.in]

• 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]

• Hyperlaxity

  Just like her sister, L.had hirsutism over the back, mild hyperlaxity of elbowsand knees, and hypoplastic toe nails. Differential Diagnostic Studies Homocystinuria and Marfan syndrome were ex-cluded by appropriate studies. [fdocuments.in]

• Joint Subluxation

  Joint hypermobility is commonly observed and often leads to congenital dislocations of the hip and subluxations of joints. In contrast, reduced joint mobility is characterized by clubfoot and camptodactyly (29,31). [annalscts.com]

• Hirsutism

  There were no physical anomalies,except for hirsutism over the back and mildly hypoplas-tic toe nails. Joint laxity of elbows and knees was pres-ent. [fdocuments.in]

  Other recurrent features include, soft and doughy skin, skin hyperextensibility, atrophic scars, generalized joint hypermobility, complications due to visceral fragility, delayed motor development, osteopenia, hirsutism, tooth abnormalities, refractive [annalscts.com]

• Hypertrichosis

  Arthropathy EVEN-PLUS SYNDROME Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis Facial Dysmorphism with Multiple Malformations + Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly Facial Dysmorphism, Hypertrichosis [rgd.mcw.edu]

• Papilledema

  Common ocular manifestations of craniosynostosisinclude proptosis, papilledema, optic atrophy, and stra-bismus. Ectopia lentis has rarely been reported in iso-lated cases of craniosynostosis [Pesme et al., 1950; Rei- Fig. 3. [fdocuments.in]

  Papilledema and optic atrophy with loss of vision may be present in cases of subtle increased intracranial pressure. [emedicine.medscape.com]

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]

Standard Therapies Treatment Treatments for SGS are currently limited to symptom management. [rarediseases.org]

Since there is currently no causal treatment for MFS or EDS, management typically involves an approach focusing on clinical features, including regular monitoring of complications (e.g., imaging of aortic aneurysm) and preventive care (e.g., antihypertensives [amboss.com]

Early diagnosis is crucial for treatment of skeletal, orthopedic, and cardiovascular abnormalities. The diagnosis of MFS can be made or suspected based on established clinical criteria (see below). [arupconsult.com]

Medications used to treat fibromyalgia, such as duloxetine, pregabalin, and milnacipran, may be useful in the treatment of chronic pain due to JHS. However, evidence is lacking. Physical therapy is an important treatment for patients with JHS. [rheumatologyadvisor.com]

[…] 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]

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]

Its estimated prevalence ranges from 1:50,000 to 1:100,000 (12,39) and represents approximately 5% of all EDS cases (44). vEDS is characterized by abnormalities of the skin, joints, hollow organs, and blood vessels and has the worst prognosis amongst [annalscts.com]

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]

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]

Etiology and classification Marfan syndrome [1][2] Mutation of fibrillin-1 gene (FBN1) on chromosome 15 →; defective fibrillin (a glycoprotein that forms a supportive sheath around elastin) → defective connective tissue microfibrils → defective elastin [amboss.com]

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]

[…] to prevent aneurysm progression). [amboss.com]

This early fusion prevents the skull from growing normally. Individuals with SGS tend to have mild to moderate intellectual and cognitive disabilities that can be seen in the absence of craniosynostosis. [rarediseases.org]

[…] fissures, hypertelorism, shallow orbits, proptosis, exophthalmos, strabismus, amblyopia, optic atrophy, and, rarely, luxation of the eye globes, keratoconus, ectopic lentis, congenital glaucoma, lack of pigment in the fundi with occasional papilledema, and preventable [emedicine.medscape.com]