Edit concept Question Editor Create issue ticket

Singleton Merten Syndrome

Singleton-Merten syndrome


Presentation

  • Patients often present with muscular weakness, failure to thrive, abnormal dentition, glaucoma, psoriatic skin lesions, aortic calcification and musculoskeletal abnormalities.[ncbi.nlm.nih.gov]
  • In this study, we present a male child demonstrating recurrent febrile episodes, spasticity, and basal ganglia calcification suggestive of Aicardi-Goutières syndrome, who carries the same Arg822Gln mutation in IFIH1 previously associated with SMS.[ncbi.nlm.nih.gov]
  • We present an update of one case and the detailed clinical phenotype of six other cases with Singleton-Merten syndrome.[ncbi.nlm.nih.gov]
  • Summarizing tables are used to highlight the key diagnostic features, and helpful illustrated case presentations are included.[books.google.com]
  • Here, we present a mother and daughter with Singleton-Merten syndrome harboring a previously described pathogenic missense mutation, c.2465G A p.[ncbi.nlm.nih.gov]
Short Stature
  • Other findings may include neurologic problems, generalized short stature, muscle weakness; poor muscle tone ( hypotonia ); progressive wasting of the muscles ( muscle atrophy ); heart arrhythmia, growth and developmental delay ; skin problems such as[rarediseases.info.nih.gov]
  • She was of proportional short stature with height at the 3rd centile at 10 years. At 11 years a systolic murmur was first heard although she had no cardiac symptoms.[adc.bmj.com]
  • Other Possible Causes of these Symptoms * Delayed motor development * Enlarged heart * Growth retardation * Malformed teeth * Missing teeth * Muscle weakness * Osteoporosis * Progressive muscle wasting * Short stature Prevention - Singleton Merten syndrome[checkorphan.org]
  • The bone disease results in short stature as well as periodontal disease. The teeth may have shortened roots while both primary and permanent tooth eruption can be delayed.[disorders.eyes.arizona.edu]
Wheelchair Bound
  • A diagnosis of psoriatic arthritis was made and although wheelchair bound, she never had significant joint inflammation. Dental concerns also emerged with delayed eruption and very malformed teeth with short roots.[adc.bmj.com]
  • Patient may become wheelchair-bound by the second decade. Special education may be helpful for those with learning difficulties.[disorders.eyes.arizona.edu]
Cardiomegaly
  • Typical radiographic appearances include skeletal demineralization, expanded shafts of the metacarpals and phalanges with widenend medullary cavities, cardiomegaly, and intramural calcification of the proximal aorta with occasional extension into the[en.wikipedia.org]
  • Classification bone, developmental, genetic, immunological, rheumatological of childhood, systemic and rheumatological Phenotypes Aortic arch calcification ; Aortic valve calcification ; Aortic valve stenosis ; Autosomal dominant inheritance ; Broad forehead ; Cardiomegaly[mousephenotype.org]
  • Typical radiographic appearances include skeletal demineralization , expanded shafts of the metacarpals and phalanges with widenend medullary cavities , cardiomegaly , and intramural calcification of the proximal aorta with occasional extension into the[en.wikipedia.org]
  • […] of aorta and cardiac valves, affected individuals may experience hypertension, abnormal electrical impulses that coordinate the activity of the heart muscle (heart block), abnormal heart contractions (systolic murmurs), and enlargement of the heart ( cardiomegaly[xpertdox.com]
Palpitations
  • Other features include syncope, presyncope, shortness of breath, chest pain, orthostasis, and palpitations.[dnalabs.in]
Dental Caries
  • (dental caries; enamel hypoplasia) 51. Rieger S. (hypodontia; microdontia) 52. Robinow S. (delayed eruption) 53. Romberg S. (delayed eruption) 54. Rothmund-Thomson S. (microdontia; hypodontia; delayed eruption; supernumerary teeth) 55.[gamuts.isradiology.org]
Cutaneous Manifestation
  • Jan 30th, 2019 - Aleukemic leukemia cutis (ALC) is an extremely rare cutaneous manifestation of an aggressive systemic hematological malignancy, associated with dermal infiltration by leukemic cells preceding peripheral blood involvement.[allmedx.com]
Muscle Weakness
  • weakness, and joint laxity.[ncbi.nlm.nih.gov]
  • Other findings may include neurologic problems, generalized short stature, muscle weakness; poor muscle tone ( hypotonia ); progressive wasting of the muscles ( muscle atrophy ); heart arrhythmia, growth and developmental delay ; skin problems such as[rarediseases.info.nih.gov]
  • Other Possible Causes of these Symptoms * Delayed motor development * Enlarged heart * Growth retardation * Malformed teeth * Missing teeth * Muscle weakness * Osteoporosis * Progressive muscle wasting * Short stature Prevention - Singleton Merten syndrome[checkorphan.org]
  • Definition A form of Singleton-Merten syndrome, an autosomal dominant disorder characterized by marked aortic calcification, dental anomalies, osteopenia, acro-osteolysis, and to a lesser extent glaucoma, psoriasis, muscle weakness, and joint laxity.[uniprot.org]
  • Other physical findings may include generalized muscle weakness; progressive muscle atrophy ; growth delay; delays in motor development; skin conditions; and/or malformation of the hips and/or feet.[globalgenes.org]
Coxa Valga
  • Other commonly seen radiographic findings include shallow acetabular fossa, subluxation of the femoral head, coxa valga, hypoplastic radial epiphysis, soft tissue calcifications between the radius and ulna, constriction of the proximal radial shaft, acro-osteolysis[en.wikipedia.org]
  • valga ; Cutaneous photosensitivity ; Decreased body weight ; Expanded metacarpals with widened medullary cavities ; Expanded metatarsals with widened medullary cavities ; Expanded phalanges with widened medullary cavities ; Generalized hypotonia ; Genu[mousephenotype.org]
  • Other commonly seen radiographic findings include shallow acetabular fossa , subluxation of the femoral head , coxa valga , hypoplastic radial epiphysis , soft tissue calcifications between the radius and ulna , constriction of the proximal radial shaft[en.wikipedia.org]
Coxa Valga
  • Other commonly seen radiographic findings include shallow acetabular fossa, subluxation of the femoral head, coxa valga, hypoplastic radial epiphysis, soft tissue calcifications between the radius and ulna, constriction of the proximal radial shaft, acro-osteolysis[en.wikipedia.org]
  • valga ; Cutaneous photosensitivity ; Decreased body weight ; Expanded metacarpals with widened medullary cavities ; Expanded metatarsals with widened medullary cavities ; Expanded phalanges with widened medullary cavities ; Generalized hypotonia ; Genu[mousephenotype.org]
  • Other commonly seen radiographic findings include shallow acetabular fossa , subluxation of the femoral head , coxa valga , hypoplastic radial epiphysis , soft tissue calcifications between the radius and ulna , constriction of the proximal radial shaft[en.wikipedia.org]
Muscular Atrophy
  • Type OMIM:271220 Spinal Muscular Atrophy, Scapuloperoneal OMIM:183020 Spinal Muscular Atrophy, Segmental OMIM:253400 Spinal Muscular Atrophy, Type III; SMA3 OMIM:253550 Spinal Muscular Atrophy, Type II; SMA2 OMIM:253300 Spinal Muscular Atrophy, Type[informatics.jax.org]
  • atrophy Spinal muscular atrophy 1 Spinal muscular atrophy Ryukyuan type Spinal muscular atrophy type 1 with congenital bone fractures Spinal muscular atrophy type 2 Spinal muscular atrophy type 3 Spinal muscular atrophy type 4 Spinal muscular atrophy[personalizedcause.com]
  • atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome, Nakajo-Nishimura syndrome PSTPIP1 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne PTPRC Severe combined immunodeficiency, , T-cell negative, B-cell positive, NK cell[genda.com.ar]
Morning Stiffness
  • She also began complaining of morning stiffness and pain in her hands and knees. The ESR was slightly raised at 17 but all other investigations were negative including ANA, rheumatoid factor and HLA-B27.[adc.bmj.com]
Onset in Infancy
  • […] in infancy (SAVI). [4] Last updated: 11/20/2017[rarediseases.info.nih.gov]
  • […] in infancy (SAVI).[malacards.org]
  • Conclusions STING-associated vasculopathy with onset in infancy (SAVI) is an autoinflammatory disease caused by gain-of-function mutations in TMEM173 .[nejm.org]

Treatment

  • The treatment with dental implants in the extremely rare Singleton-Merten syndrome patients is a reasonable treatment option to rehabilitate maxillofacial aesthetics and establish normal function of the jaws.[ncbi.nlm.nih.gov]
  • Cleft palate is also addressed, with details on etiology, phenotypes, treatment timing and approaches, and dental management.[books.google.com]
  • Decisions about use of a new treatment, or about a change in your current treatment plan, should be in consultation with your doctor or other healthcare professional.[healthetreatment.com]
  • Conclusion: The treatment with dental implants in the extremely rare Singleton-Merten syndrome patients is a reasonable treatment option to rehabilitate maxillofacial aesthetics and establish normal function of the jaws.[jstage.jst.go.jp]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]

Prognosis

  • Diagnosis and Prognosis: Orthopedists, dentists, ophthalmologists, cardiologists, dermatologists, and pediatricians are likely to be involved in the care and treatment of this condition.[disorders.eyes.arizona.edu]
  • Prognosis - Singleton Merten syndrome Not supplied. Treatment - Singleton Merten syndrome Not supplied. Resources - Singleton Merten syndrome Not supplied.[checkorphan.org]
  • Pathogenic variants in IFIH1 have previously been associated with the classic Singleton-Merten syndrome, while variants in DDX58 has been described in association with a milder phenotype, which is suggested to have a better prognosis.[springermedizin.de]
  • Metastases do not occur, and the long-term prognosis is good. The surgical approach to the tumor has been a source of controversy. The following is a report of a case of desmoplastic fibroma of the mandible.[docsplayer.com]
  • M. org Pediatric Radiology Articles From Around the World Argentina Society of Radiology Revista Argentina de Radiología Editor: Claudia CejasRadiology articles covering imaging, techniques, findings, symptoms, diagnosis, staging, treatment, prognosis[mykidadvisor.com]

Etiology

  • These patients exhibit features of a unique clinical syndrome of unknown etiology: generalized muscular weakness with secondary hip and foot deformities, progressive calcification of the thoracic aorta beginning in childhood, calcific aortic stenosis[ncbi.nlm.nih.gov]
  • Cleft palate is also addressed, with details on etiology, phenotypes, treatment timing and approaches, and dental management.[books.google.com]
  • To determine the molecular etiology of this disease, we performed whole-exome sequencing and targeted Sanger sequencing.[ncbi.nlm.nih.gov]
  • Genetic Etiology for Alcohol-Induced Cardiac Toxicity Ware, J. S., Amor-Salamanca, A., Tayal, U., Govind, R. , Serrano, I., Salazar-Mendiguchía, J., García-Pinilla, J. M., Pascual-Figal, D.[kclpure.kcl.ac.uk]

Epidemiology

  • No epidemiological studies have been reported for this very rare condition. Thought to be autosomal dominant. Linear calcification of the ascending aorta and severe calcific mixed aortic valve disease (stenotic and regurgitant).[accessanesthesiology.mhmedical.com]
  • We sought to describe the epidemiology, clinical and dermoscopic features, and natural history of genital nevi in pediatric patients. We reviewed charts of 1159 children given the diagnosis of melanocytic nevi over 11 years.[allmedx.com]
  • Relevant External Links for IFIH1 Genetic Association Database (GAD) IFIH1 Human Genome Epidemiology (HuGE) Navigator IFIH1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: IFIH1 No data available for Genatlas for IFIH1 Gene A genome-wide[genecards.org]
  • The epidemiology, mechanisms, and types of It is also important to control a child's environment to prevent access to food. Clinical European Management Platform.[mykidadvisor.com]
Sex distribution
Age distribution

Pathophysiology

  • Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease. Annu Rev Immunol 2009 ;27: 621 - 668 2. Sanchez GA, de Jesus AA, Goldbach-Mansky R.[nejm.org]

Prevention

  • Other Possible Causes of these Symptoms * Delayed motor development * Enlarged heart * Growth retardation * Malformed teeth * Missing teeth * Muscle weakness * Osteoporosis * Progressive muscle wasting * Short stature Prevention - Singleton Merten syndrome[checkorphan.org]
  • Identifying the gene that causes Singleton-Merten Syndrome will also allow families with a history of the disease to potentially participate in genetic screening that could prevent them from passing the disease on to children.[al.com]
  • Genetic counseling can provide a patient and/or family with the natural history of tuberous sclerosis, to identify at-risk family members, provide reproductive risks as well as possible preventive therapy or preconception/prenatal options, and allow for[centogene.com]
  • Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ][icdlist.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!