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]

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]

- = not described before; + = present. [docslide.com.br]

We present a now 4-year-old girl diagnosed with RS presenting with significant lymphadenopathies and pneumonia due to disseminated Mycobacterium lentiflavum infection. An immunological work-up showed several unexpected abnormalities. [hindawi.com]

• Poor Growth

  Overlapping symptoms include radial ray defects, poor growth and various skeletal malformations. Thus far, they are described as separate syndromes and have in addition some distinctive symptoms. [web.archive.org]

  His loose stools and poor growth persisted. At age 2 to 3 months, he developed a progressive, light-sensitive skin rash. [jamanetwork.com]

• Increased Susceptibility to Infections

  There is an increasing number of reports on increased susceptibility to infections and immunodeficiency in RTS [10–14]. [hindawi.com]

• Heart Murmur

  There was a systolic heart murmur. No other abnormalities were detected. Palmar der- matoglyphic pattern is very similar to that of other examples of thumb agenesis [Temtamy and Mckusick, 19781. [docslide.com.br]

• Joint Stiffness

  Stiff interphalangeal joints MedGen UID: 870780 •Concept ID: C4025237 • Anatomical Abnormality Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity [ncbi.nlm.nih.gov]

• Small Palpebral Fissures

  The 4 year old has talipes equinovarus, bilateral radial reduction defects, small palpebral fissures, small mouth, and skin changes. [unthsc-ir.tdl.org]

• Narrow Face

  Other clinical features include a high-pitched voice; distinct facial features, including a long, narrow face, micrognathism, and prominent nose and ears; pigmentation changes of the skin including hypo-pigmented and hyper-pigmented areas, cafe-au-lait [en.wikipedia.org]

• Short Neck

  neck, high-pitched and hy-pernasal voice, conductive hearing loss, absent radiiwith short, bowed ulnae and four digits on each hand,flexion contractures of both hips (which were secondaryto bilateral hip dislocations in early childhood), absentpatellae [documents.tips]

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]

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

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]

PMID: 22475304 Prognosis Kellermayer R, Siitonen HA, Hadzsiev K, Kestilä M, Kosztolányi G Arch Dermatol 2005 May;141(5):617-20. doi: 10.1001/archderm.141.5.617. [ncbi.nlm.nih.gov]

[…] 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]

Etiology RAPADILINO syndrome is caused by mutations of the RECQL4gene, a member of the family of RecQ-helicase genes which are at the origin of diseases predisposing to cancer. [rarediseases.info.nih.gov]

Epidemiology RAPADILINO syndrome is a rare condition, prevalence is unknown. It is, however, more common and was first described in Finnish populations 2. [radiopaedia.org]

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. [unthsc-ir.tdl.org]

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]

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

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 the RECQL4 protein may prevent normal DNA replication and repair, causing widespread damage to a person's genetic information over time. [medicinenet.com]