Using antibodies to human RECQL4, we found that the bulk of RECQL4 was present in a cytoplasmic extract of HeLa cells, in contrast to the largely nuclear BLM and WRN helicases. [ncbi.nlm.nih.gov]

Abstract Title Growth Hormone Treatment in Rapadilino/Rothmund-Thomson Syndrome Presenter Name Daryl McKee RAD Assignment Number 406 Abstract INTRODUCTION/CASE PRESENTATION We describe two female Caucasian siblings with compound heterozygous mutations [digitalcommons.hsc.unt.edu]

We present a 3 years old girl diagnosed with Rapadilino syndrome presenting with important lymphadenopathies and atypical pneumonia due to disseminated Mycobacterium Lentiflavum infection. Repeated blood samples showed a mild lymphopenia. [cris.cumulus.vub.ac.be]

• Short Stature

  stature), li mb malformation NO : no se slender and no rmal intelligence. [en.wikipedia.org]

  A case of Rapadilino syndrome on a boy having absent radius and patellae, dislocated knees, short stature, slender nose and normal intelligence has been reported. [archivesofrheumatology.org]

  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]

• Asymptomatic

  There is also a 50% chance the child will have one mutant copy (be a carrier) and be asymptomatic and a 25% chance the child will be asymptomatic and not a carrier. In order for someone to have BGS, they need to have two mutant copies of the gene. [en.wikipedia.org]

  Heterozygotes (carriers) are asymptomatic. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. [ncbi.nlm.nih.gov]

  Iliac Horns These are bony prominences found in about 70% of patients which are typically asymptomatic and may be palpable on the posterolateral iliac bones or detected on x-ray. These are considered pathognomonic of nail-patella syndrome. [boneandspine.com]

  The patient was asymptomatic at all times; the treatment started with levothyroxine 75 ug/day, which was later adjusted to 62.5 ug/day. His bone age was equivalent to his chronological age. [scielo.conicyt.cl]

• Multiple Congenital Anomalies

  Differential diagnosis includes chromosome abnormalities, single-gene (dominant or recessive) disorders, teratogen exposure, and multiple congenital anomaly syndromes. Should exclude trisomy 18 by performing a karyotype. [mhmedical.com]

  Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. nd. 2pp. www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?index=46 Accessed 10/30/2006 Online Mendelian Inheritance in Man, OMIM (TM). John Hopkins University, Baltimore, MD. [rarediseases.org]

  Distal arthrogryposis, Marden-Walker syndrome PIGA Multiple congenital anomalies-hypotonia-seizures syndrome PIK3CA CLOVES, Cowden syndrome PITX2 Axenfeld-Rieger syndrome, Iridogoniodysgenesis, Peters anomaly, Ring dermoid of cornea PLOD1 Ehlers-Danlos [genda.com.ar]

  […] epiphyseal dysplasia 2 Micro syndrome Stiff skin syndrome Immunodeficiency with hyper IgM type 1 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Pachydermoperiostosis X-linked intellectual disability - short stature ‚Äì obesity Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus [checkrare.com]

• Diarrhea

  […] and orphan drugs.Orpha Number: 3021Disease definitionRAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea [malacards.org]

  Many infants with RAPADILINO syndrome have difficulty feeding and experience diarrhea and vomiting. The combination of impaired bone development and feeding problems leads to slow growth and short stature in affected individuals. [rarediseases.oscar.ncsu.edu]

  \n\nMany infants with RAPADILINO syndrome have difficulty feeding and experience diarrhea and vomiting. The combination of impaired bone development and feeding problems leads to slow growth and short stature in affected individuals. [ncbi.nlm.nih.gov]

  Additional findings were absence of thumbs, dislocation of joints, unusual facies (long face with narrow palpebral fissures, long slender nose, small chin, and unusual ears), cleft or highly arched palate, diarrhea in infancy, small stature, and normal [humpath.com]

  Disease definition A rare syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and [orpha.net]

• Vomiting

  Many infants with RAPADILINO syndrome have difficulty feeding and experience diarrhea and vomiting. The combination of impaired bone development and feeding problems leads to slow growth and short stature in affected individuals. [rarediseases.oscar.ncsu.edu]

  \n\nMany infants with RAPADILINO syndrome have difficulty feeding and experience diarrhea and vomiting. The combination of impaired bone development and feeding problems leads to slow growth and short stature in affected individuals. [ncbi.nlm.nih.gov]

  Digestive System Children with RAPADILINO syndrome suffer from gastrointestinal problems such as vomiting and diarrhea. [web.archive.org]

• Failure to Thrive

  AB - We describe the natural history of the RTSII phenotype in a 7-year-old boy who developed intrauterine and postnatal growth retardation, failure to thrive and persisting diarrhoea. [moh-it.pure.elsevier.com]

  Cow’s milk intolerance with vomiting, diarrhoea, and failure to thrive affected almost half (14/30) and was severe, requiring total parenteral nutrition, in two. [adc.bmj.com]

  At age 22 months (length, 67 cm [≪third percentile]; weight, 5620 g [≪third percentile]), he was rehospitalized for failure to thrive and persistent diarrhea. [jamanetwork.com]

  Yet, straight away she was sick after every feed, didn’t gain weight and she was classed as failure to thrive. At eight weeks old she had her first appointment with a paediatrician, who she saw regularly. [rarerevolutionmagazine.com]

• Nausea

  Focal signs and neurological symptoms, such as decreased consciousness, nausea, vomiting, motor deficits (hemiplegia and ataxia), headache and visual changes (diplopia and papilledema), are more commonly found in children. [docksci.com]

• High Arched Palate

  Other features include an opening in the roof of the mouth (cleft palate) or a high arched palate; a long, slender nose; and dislocated joints. Many infants with RAPADILINO syndrome have difficulty feeding and experience diarrhea and vomiting. [rarediseases.oscar.ncsu.edu]

  Synopsis carniofacial anomalies long face narrow palpebral fissures long slender nose small chin unusual ears hearing defect cleft palate high arched palate patellar aplasia/hypoplasia thumb agenesis (absent thumbs) radial ray defect radial aplasia *radial [humpath.com]

  Other features include an opening in the roof of the mouth (cleft palate) or a high arched palate; a long, slender nose; and dislocated joints.\n\nMany infants with RAPADILINO syndrome have difficulty feeding and experience diarrhea and vomiting. [ncbi.nlm.nih.gov]

  Overview A rare genetic condition characterized primarily by a cleft palate which has a high arch and missing or underdeveloped kneecaps as well as other anomalies. [checkorphan.org]

  Symptoms and Signs Patients with Rapadilino syndrome exhibit craniofacial anomalies, more commonly in the form of a long face, long slender nose, narrow palpebral fissures, unusual ears, small chin, cleft palate, high arched palate, and hearing defects [dianamossop.com]

• Ectopia Lentis

  lentis and with or without secondary glaucoma, Weill-Marchesani syndrome MATN3 Multiple epiphyseal dysplasia type 5 (EDM5), Spondyloepimetaphyseal dysplasia Matrilin type MMP9 Metaphyseal anadysplasia NEK1 SRPS type 2 (Majewski), Short -rib thoracic [genda.com.ar]

  lentis Progressive osseous heteroplasia Yemenite deaf-blind hypopigmentation syndrome Microtia eye coloboma and imperforation of the nasolacrimal duct Multiple endocrine neoplasia type 2B Oculorenocerebellar syndrome Rhizomelic dysplasia Patterson Lowry [checkrare.com]

• Joint Dislocation

  Affiliated tissues include bone, and related phenotypes are joint dislocation and high palate Disease Ontology : 12 An autosomal recessive disease that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints [malacards.org]

  Additional findings were absence of thumbs, dislocation of joints, unusual facies (long face with narrow palpebral fissures, long slender nose, small chin, and unusual ears), cleft or highly arched palate, diarrhea in infancy, small stature, and normal [humpath.com]

  Other features include an opening in the roof of the mouth (cleft palate) or a high arched palate; a long, slender nose; and dislocated joints.\n\nMany infants with RAPADILINO syndrome have difficulty feeding and experience diarrhea and vomiting. [ncbi.nlm.nih.gov]

  Symptoms - Rapadilino syndrome * Infant diarrhea * Radial aplasia * Absent or underdeveloped kneecap * Joint dislocation * Long nose * Small chin * Unusual ears * Cleft palate * High arched palate * Small stature Causes - Rapadilino syndrome Conditions [checkorphan.org]

• Severe Short Stature

  Both were referred to the Endocrine clinic for severe short stature. The 4 year old has talipes equinovarus, bilateral radial reduction defects, small palpebral fissures, small mouth, and skin changes. [digitalcommons.hsc.unt.edu]

• Thumb Hypoplasia

  Radial ray hypoplasia or absent thumbs occur in a minority of cases. RAPADILINO syndrome is characterized by radial ray defects. BGS is characterized by craniosynostosis in association with radial hypoplasia. [spandidos-publications.com]

• Average Intelligence

  Those affected generally have an average intelligence. TCS is usually autosomal dominant. More than half the time it occurs as a result of a new mutation rather than being inherited from a person's parents. [maria-online.com]

His extensive workup revealed bilateral absence of the patellae, subluxation of the femoral heads, and prominent osteoporosis in addition to the earlier radiographic findings. [jamanetwork.com]

See also: Rothmund-Thomson Syndrome - Clinical and Research information Web Resources (5) Rothmund-Thomson Syndrome Medscape Detailed referenced article by Sylvia Hsu, MD covering presentation, diagnosis, workup, treatment and follow-up. [cancerindex.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]

A better understanding of the pathophysiology of the diseases associated with mutations in the RECQL4 gene is needed to help develop a more effective treatment program. [digitalcommons.hsc.unt.edu]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

Prognosis - Rapadilino syndrome Not supplied. Treatment - Rapadilino syndrome Not supplied. Resources - Rapadilino syndrome Not supplied. [checkorphan.org]

The prognosis is thought to be good if the patient survives to at least one year of age 6 where there is improvement of the thrombocytopenia. [radiopaedia.org]

Distinct prognosis of mRNA expression of the five RecQ DNA-helicase family members – RECQL, BLM, WRN, RECQL4, and RECQL5 – in patients with breast cancer Distinct prognosis of mRNA expression of the five RecQ DNA-helicase family members - RECQL, BLM, [paperity.org]

Prognosis of Nail Patella Syndrome 30-55% of patients with nail-patella syndrome develop a renal disease and end-stage renal disease may develop in about 5%. Prognosis after renal transplantation is good. [boneandspine.com]

[…] palate patellar aplasia/hypoplasia thumb agenesis (absent thumbs) radial ray defect radial aplasia *radial hypoplasia joint dislocations stiff interphalangeal joints infantile diarrhea small stature normal intelligence mottled or stippled pigmentation Etiology [humpath.com]

Etiology RAPADILINO syndrome is caused by mutations of the RECQL4 gene, a member of the family of RecQ-helicase genes which are at the origin of diseases predisposing to cancer. [orpha.net]

Summary Epidemiology Prevalence is unknown, but the disease is rare. It was first described in families originating from different parts of Finland, but non-Finnish cases were later identified. [orpha.net]

Epidemiology Prevalence is unknown, but the disease is rare. It was first described in families originating from different parts of Finland, but non-Finnish cases were later identified. Clinical description Growth delay is both pre- and postnatal. [rarediseases.info.nih.gov]

A better understanding of the pathophysiology of the diseases associated with mutations in the RECQL4 gene is needed to help develop a more effective treatment program. [digitalcommons.hsc.unt.edu]

Other Names for Nail Patella Syndrome Fong disease Hereditary onycho-osteodysplasia Hereditary osteo-onychodysplasia Osterreicher syndrome Pelvic horn syndrome Turner-Kieser syndrome Pathophysiology and Genetics The LMX1B gene is a transcription factor [boneandspine.com]

The average age of cancer diagnoses in the cohort is approximately 26 years old. [8] Pathophysiology [ edit ] When a cell prepares to divide to form two cells, the chromosomes are duplicated so that each new cell will get a complete set of chromosomes [en.wikipedia.org]

A literature search was performed using different databases, including Medline, Cochrane, Embase, Medscape, PubMed, using keywords: Mirizzi syndrome, epidemiology, markers, pathophysiology, clinical presentation, diagnosis, and treatment. [science.gov]

Here, we present an overview of recent findings in connection with RECQL4 and try to highlight different directions the field could head, helping to clarify the role of RECQL4 in preventing tumorigenesis and maintenance of genome integrity in humans. [link.springer.com]

Prevention - Rapadilino syndrome Not supplied. Diagnosis - Rapadilino syndrome Not supplied. Prognosis - Rapadilino syndrome Not supplied. Treatment - Rapadilino syndrome Not supplied. Resources - Rapadilino syndrome Not supplied. [checkorphan.org]

A shortage of this protein may prevent normal DNA replication and repair, causing widespread damage to a person's genetic information over time. [medlineplus.gov]

The loss of helicase function may prevent normal DNA replication and repair, causing widespread damage to a person's genetic information over time. [ghr.nlm.nih.gov]