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RAPADILINO Syndrome


Presentation

  • 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]
  • 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]
  • […] untagged) RECQL4 is present in both the nucleus and cytoplasm (Fig. 1 ).[doi.org]
  • ; - not described before; present.[docslide.com.br]
Feeding Problems in Infancy
  • Diarrhoea/vomiting/feeding problems in infancy 12/14 86 7/41 17 n.m.[doi.org]
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]
Brittle Hair
  • Trichothiodystrophy Trichothiodystrophy (TTD) is an autosomal recessive inherited disorder characterised by brittle hair and intellectual impairment.[howlingpixel.com]
Small Palpebral Fissures
  • The 4 year old has talipes equinovarus, bilateral radial reduction defects, small palpebral fissures, small mouth, and skin changes.[digitalcommons.hsc.unt.edu]
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]
Poor Coordination
  • Nervous system problems, such as hearing loss, poor coordination, loss of intellectual function, and seizures, may also occur.[howlingpixel.com]
Phenylketonuria
  • On the other hand, diseases that are common in other Caucasian populations, for example Cystic Fibrosis and Phenylketonuria, are very rare among Finns. We provide a detailed illustrated article for about 20 diseases, see below.[web.archive.org]
  • Roberts syndrome Left ventricular noncompaction Blue diaper syndrome Anophthalmos with limb anomalies Hereditary leiomyomatosis and renal cell cancer X-linked hypohidrotic ectodermal dysplasia Orofaciodigital syndrome 13 Inclusion body myopathy 2 Mild phenylketonuria[checkrare.com]
  • […] complementation group g FANCI I fanconi anemia complementation group i BRIP1 J fanconi anemia complementation group j RAD51C O fanconi anemia complementation group o WNT7A fuhrmann fuhrmann syndrome PAH phenylalanine hydroxylase deficiency included classic phenylketonuria[dokumen.tips]

Workup

  • 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]

Treatment

  • 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]
  • Treatments IN OTHER LANGUAGES rapadilino-oireyhtymä Finnish rapadilino Swedish URI Download this concept: RDF/XML TURTLE JSON-LD Last modified 5/10/17 EXACTLY MATCHING CONCEPTS rapadilino (sv) Allärs - General thesaurus in Swedish rapadilino-oireyhtymä[finto.fi]
  • Treatment - Rapadilino syndrome Not supplied. Resources - Rapadilino syndrome Not supplied.[checkorphan.org]
  • Management and treatment Orthopedic and nutritional management is recommended when needed and appropriate investigation is recommended in the event of signs suggestive of osteosarcoma. Last updated: 4/15/2009[rarediseases.info.nih.gov]

Prognosis

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

Etiology

  • 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 RECQL4 gene , a member of the family of RecQ-helicase genes which are at the origin of diseases predisposing to cancer .[rarediseases.info.nih.gov]

Epidemiology

  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • ライソゾーム病学術講演会in 北陸(2012,10,14,金沢) 56)Kuroda R, Maeba H, (Sato K : Pathophysiological and Experimental Pathology, Kanazawa Medical University), (Naka K : Division of Molecular Genetics, Cancer Research Insititute, Kanazawa University), Araki R, Mase S,[ped.w3.kanazawa-u.ac.jp]

Prevention

  • 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]
  • 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]
  • Cartilage prevents the bone ends from rubbing directly onto each other, muscles contract to move the bone attached at the joint. There are, however and disorders that may affect the function.[wikivisually.com]

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