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Ruijs Aalfs Syndrome

Progeroid Features - Hepatocellular Carcinoma Predisposition Syndrome


Presentation

  • Acronym RJALS Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • This condition is not always pathological and may correct itself as the patient matures; however, it may also present as a birth defect in multiple syndromes.[ncbi.nlm.nih.gov]
  • EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES DBSNP FREQUENCY EXCLUDE ALL VARIANTS PRESENT IN DBSNP ESP6500 FREQUENCY EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT SCORES SIFT SCORE EXCLUDE VARIANTS WITHOUT SIFT SCORE POLYPHEN2 SCORE EXCLUDE[mendelmd.org]
Short Stature
  • Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).[ncbi.nlm.nih.gov]
  • Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia.[mendelian.co]
  • stature Decreased body weight Thoracic kyphoscoliosis ... ...[familydiagnosis.com]
  • Stature, Microcephaly, And Endocrine Dysfunction Short Stature-Obesity Syndrome Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation Thai Symphalangism Syndrome Urban-Rogers-Meyer Syndrome Velofacioskeletal Syndrome Waardenburg-Shah Syndrome[familydiagnosis.com]
Weight Loss
  • Symptoms related to Ruijs-Aalfs syndrome include: Triangular face Bulbous nose Prominent nasal bridge Frontal bossing Delayed skeletal maturation Skeletal muscle atrophy Weight Loss Down-sloping shoulders • • • Back to: « Ruijs-Aalfs syndrome Related[familydiagnosis.com]
Abdominal Pain
  • At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later.[ncbi.nlm.nih.gov]
Premature Graying of the Hair
  • Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia.[ncbi.nlm.nih.gov]
Alopecia
  • Other rare diseases that you may find interesting PHOSPHOLIPASE A2, GROUP IVA; PLA2G4A MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5 FIBROCHONDROGENESIS 2; FBCG2 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34; EIEE34 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA[mendelian.co]
  • ALAZAMI-YUAN SYNDROME Albinism Deafness Syndrome alcoholic hepatitis Aldred Syndrome Alice in Wonderland Syndrome Alien Hand Syndrome ALKURAYA-KUCINSKAS SYNDROME Allan-Herndon-Dudley syndrome Allanson Pantzar McLeod Syndrome Aloi Tomasini Isaia Syndrome Alopecia[rgd.mcw.edu]
Sloping Shoulders
  • Down-sloping shoulders MedGen UID: 346461 • Concept ID: C1856872 • Finding Low set, steeply sloping shoulders.[ncbi.nlm.nih.gov]
  • Symptoms related to Ruijs-Aalfs syndrome include: Triangular face Bulbous nose Prominent nasal bridge Frontal bossing Delayed skeletal maturation Skeletal muscle atrophy Weight Loss Down-sloping shoulders • • • Back to: « Ruijs-Aalfs syndrome Related[familydiagnosis.com]
  • In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus.[ncbi.nlm.nih.gov]
Sloping Shoulders
  • Down-sloping shoulders MedGen UID: 346461 • Concept ID: C1856872 • Finding Low set, steeply sloping shoulders.[ncbi.nlm.nih.gov]
  • Symptoms related to Ruijs-Aalfs syndrome include: Triangular face Bulbous nose Prominent nasal bridge Frontal bossing Delayed skeletal maturation Skeletal muscle atrophy Weight Loss Down-sloping shoulders • • • Back to: « Ruijs-Aalfs syndrome Related[familydiagnosis.com]
  • In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus.[ncbi.nlm.nih.gov]
Muscular Atrophy
  • Skeletal muscle atrophy MedGen UID: 902598 • Concept ID: C0234958 • Disease or Syndrome The presence of skeletal muscular atrophy (which is also known as amyotrophy).[ncbi.nlm.nih.gov]
  • Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild[ncbi.nlm.nih.gov]
  • Many of the displayed features resembled those seen during normal ageing/progeroid syndromes, including: short stature and low weight, delayed bone age, thoracic kyphosis and kyphoscoliosis, cataracts, muscular atrophy, graying of hair, lipodystrophy[genomics.senescence.info]
Flexion Contracture
  • contracture Skeletal muscle atrophy Short stature Decreased body weight Thoracic kyphoscoliosis ... ...[familydiagnosis.com]
  • Elbow flexion contracture MedGen UID: 98367 • Concept ID: C0409338 • Acquired Abnormality A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow.[ncbi.nlm.nih.gov]
  • contracture Generalized hypotonia Lumbar hyperlordosis Motor delay Muscular hypotonia Muscle weakness Flexion contracture Proximal muscle weakness Myopathy Elevated serum creatine phosphokinase Increased variability in muscle fiber diameter Frequent[mendelian.co]
Frontal Bossing
  • Frontal bossing may simply be normal ... ... More on Frontal bossing » Delayed skeletal maturation : Summary A decreased rate of skeletal maturation.[familydiagnosis.com]
  • The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years.[mendelian.co]
  • bossing Delayed skeletal maturation Elbow flexion contracture Skeletal muscle atrophy Short stature Decreased body weight Thoracic kyphoscoliosis ... ...[familydiagnosis.com]
Bulbous Nose
  • More on Triangular face » Bulbous nose : Summary Increased volume and globular shape of the anteroinferior aspect of the nose. 3 , 4 ... ...[familydiagnosis.com]
  • Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia.[mendelian.co]
  • Symptoms List: Ruijs-Aalfs syndrome Symptoms and clinical features may include: 1 Clinical Features of Ruijs-Aalfs Syndrome : Autosomal recessive inheritance Triangular face Micrognathia Bulbous nose Prominent nasal bridge Pectus excavatum Hepatocellular[familydiagnosis.com]
  • Bulbous nose MedGen UID: 66013 • Concept ID: C0240543 • Finding Increased volume and globular shape of the anteroinferior aspect of the nose.[ncbi.nlm.nih.gov]
Bulbous Nose
  • More on Triangular face » Bulbous nose : Summary Increased volume and globular shape of the anteroinferior aspect of the nose. 3 , 4 ... ...[familydiagnosis.com]
  • Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia.[mendelian.co]
  • Symptoms List: Ruijs-Aalfs syndrome Symptoms and clinical features may include: 1 Clinical Features of Ruijs-Aalfs Syndrome : Autosomal recessive inheritance Triangular face Micrognathia Bulbous nose Prominent nasal bridge Pectus excavatum Hepatocellular[familydiagnosis.com]
  • Bulbous nose MedGen UID: 66013 • Concept ID: C0240543 • Finding Increased volume and globular shape of the anteroinferior aspect of the nose.[ncbi.nlm.nih.gov]
High Forehead
  • More on Bulbous nose » Frontal bossing : Frontal bossing refers to an abnormally high forehead, or a prominent forehead. Similar symptoms include a prominent brow, high forehead, and other forehead abnormalities.[familydiagnosis.com]
  • forehead, related diseases and genetic alterations[mendelian.co]
Onset in Adolescence
  • Homepage Rare diseases Search Search for a rare disease Progeroid features-hepatocellular carcinoma predisposition syndrome ORPHA:435953 Synonym(s): Ruijs-Aalfs syndrome Prevalence: Inheritance: Autosomal recessive Age of onset: Childhood , Adolescent[orpha.net]

Workup

Delayed Bone Age
  • The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years.[ncbi.nlm.nih.gov]
  • Many of the displayed features resembled those seen during normal ageing/progeroid syndromes, including: short stature and low weight, delayed bone age, thoracic kyphosis and kyphoscoliosis, cataracts, muscular atrophy, graying of hair, lipodystrophy[genomics.senescence.info]
Delayed Bone Age
  • The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years.[ncbi.nlm.nih.gov]
  • Many of the displayed features resembled those seen during normal ageing/progeroid syndromes, including: short stature and low weight, delayed bone age, thoracic kyphosis and kyphoscoliosis, cataracts, muscular atrophy, graying of hair, lipodystrophy[genomics.senescence.info]
Liver Biopsy
  • Myers from the University of Oxford for providing healthy and HCC human liver biopsies and performing histological and immunohistochemical staining. The zebrafish γ-H2AX antibody was a kind gift of J. Amatruda (University of Texas Southwestern).[nature.com]

Treatment

  • More Symptoms of Ruijs-Aalfs syndrome » Treatments See also the following treatment articles: Treatments for Progeria Causes See also causal information: Causes of Premature aging Causes of Progeria Similar Topic Articles Premature aging Progeria • •[familydiagnosis.com]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village.[ncbi.nlm.nih.gov]

Prognosis

  • Prognosis [ edit ] In adults, many of the symptoms diminish over time.[en.wikipedia.org]
  • Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.[mendelian.co]
  • Molecular markers for cancer prognosis and treatment: have we struck gold? Cancer Lett. 327 , 142–152 (2012). 19. Hoehn, H. et al. Variegated translocation mosaicism in human skin fibroblast cultures . Cytogenet. Cell Genet. 15 , 282–298 (1975). 20.[nature.com]
  • The 70-gene prognosis signature predicts early metastasis in breast cancer patients between 55 and 70 years of age. Ann Oncol. 2010 Apr; 21(4):717-22. PMID: 19825882. View in: PubMed Linn SC, Van 't Veer LJ.[profiles.ucsf.edu]

Etiology

  • Thoracic kyphoscoliosis MedGen UID: 863902 • Concept ID: C4015465 • Finding Etiology Stingele J, Bellelli R, Alte F, Hewitt G, Sarek G, Maslen SL, Tsutakawa SE, Borg A, Kjær S, Tainer JA, Skehel JM, Groll M, Boulton SJ Mol Cell 2016 Nov 17;64(4):688-703[ncbi.nlm.nih.gov]
  • Arthur Zimmermann, Etiology and Pathogenesis of Hepatocellular Carcinoma: Chromosomal Alterations, Oncogenes, Tumor Suppressors, and Associated Signaling Networks, Tumors and Tumor-Like Lesions of the Hepatobiliary Tract, 10.1007/978-3-319-26956-6_166[doi.org]
  • Additional work also links this genotoxin to the etiology of other human illnesses, such as the Ruijs-Aalfs syndrome and the cancer predisposition of BRCA2 mutation carriers.[conicet.gov.ar]
  • Children with a high level of intellectual functioning as well as those with brain damage may be affected with the disorder. [ citation needed ] Diagnosis [ edit ] Diagnosis may be clinical if associated with dementia and other etiologies.[en.wikipedia.org]
  • The etiology of why magnesium would be protective for pancreatic cancer is not completely clear. There have been associations with magnesium and the improvement in insulin sensitivity.[intechopen.com]

Epidemiology

  • Menko 2 , Laura J van 't Veer 1 1 Family Cancer Clinic, The Netherlands Cancer Institute, Amsterdam, The Netherlands 2 Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands 3 Department of Psychosocial Research and Epidemiology[jmg.bmj.com]
  • The consortium was composed of 50 experts from 10 countries in the fields of epidemiology, genetics, gastroenterology, radiology, oncology, surgery, and pathology.[intechopen.com]
Sex distribution
Age distribution

Pathophysiology

  • This will eventually lead to a better understanding of the role of autophagy in pathophysiology and pave the road for innovative, targeted therapies.[biochem2.com]
  • Boraska Perica Journal of Endocrinological Investigation (2018) Phenotypic and Genetic Characteristics of Lipodystrophy: Pathophysiology, Metabolic Abnormalities, and Comorbidities Baris Akinci , Rasimcan Meral & Elif Arioglu Oral Current Diabetes Reports[nature.com]

Prevention

  • Elbow flexion contracture MedGen UID: 98367 • Concept ID: C0409338 • Acquired Abnormality A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow.[ncbi.nlm.nih.gov]
  • This protein recruits valosin containing protein (p97) to stalled DNA replication forks where it may prevent excessive translesional DNA synthesis and limit the number of DNA-damage induced mutations.[ghr.nlm.nih.gov]
  • However, Polη is highly error prone when replicating undamaged DNA and, thus, the regulation of the proper targeting of Polη is crucial for the prevention of mutagenesis and UV-induced cancer formation.[scoop.it]

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