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Renpenning Syndrome 1

Renpenning syndrome


Presentation

  • From Wikidata Jump to navigation Jump to search intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most[wikidata.org]
  • However, the common clinical manifestations, MR, microcephaly, and short stature, are present in all families.[ncbi.nlm.nih.gov]
  • While this symptom was not present in all cases reported in the medical literature, one study of multiple cases of Renpenning syndrome noted sleeping difficulties in 10 out of 13 individuals.[rarediseases.info.nih.gov]
  • Although Renpenning syndrome has been reported in a single Canadian family, it is believed to be present in all racial/ethnic groups. Signs and symptoms Manifestations of Renpenning syndrome may be present at birth.[encyclopedia.com]
  • Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability provides the latest information on Autism spectrum disorders (ASDs), the lifelong neurodevelopmental disorders that present in early childhood and affect how individuals[books.google.de]
Short Stature
  • From Wikidata Jump to navigation Jump to search intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most[wikidata.org]
  • The unifying findings in these patients with XLMR are microcephaly and short stature.[ncbi.nlm.nih.gov]
  • Individuals with Renpenning syndrome typically have short stature and a small head size (microcephaly).[malacards.org]
  • It is characterized by mental retardation , short stature, a smaller than normal head circumference (microcephaly), and small testes.[encyclopedia.com]
Hypoxemia
  • These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen[ncbi.nlm.nih.gov]
Tachypnea
  • These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen[ncbi.nlm.nih.gov]
Failure to Thrive
  • Patients are thin and show failure to thrive. Delayed motor and language development is noticed in children from an early age. Moderate to severe intellectual deficiency is seen in two thirds of cases.[orpha.net]
  • Other reported features include failure to thrive, growth restriction, extrapyramidal features, spasticity, seizures and muscular atrophy.[invitae.com]
  • Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive.[mendelian.co]
  • A rare inherited growth disorder characterized by growth retardation, feeding difficulties, failure to thrive, facial abnormalities and asymmetry of limbs. Camptodactyly or clinodactyly may be present.[icd10data.com]
Sparse Hair
  • The specific facial dysmorphic features included at least four of the following signs: long triangular face, large ridged nose, half-depilated eyebrows, dysplastic or protruding ears and rough slightly sparse hair.[hal.archives-ouvertes.fr]
  • hair ; Sparse lateral eyebrow ; Spasticity ; Strabismus ; Tetralogy of Fallot ; Thin upper lip vermilion ; Triangular face ; Upslanted palpebral fissure ; Ventricular septal defect ; Wide nasal bridge ; X-linked recessive inheritance Associated Genes[mousephenotype.org]
  • G H I J K L M N O P Q R S T U V W X Y Z R(10) Syndrome R(12) Syndrome R(13) Syndrome R(15) Syndrome R(17) Syndrome R(18) Syndrome R(19) Syndrome R(20) Syndrome R(4) Syndrome R(6) Syndrome R(7) Syndrome Radial Ray Defects-Triangular Face-Telecanthus-Sparse[neo-genetics.com]
  • Sparse hair MedGen UID: 332942 • Concept ID: C1837770 • Finding Reduced density of hairs.[ncbi.nlm.nih.gov]
  • OOA Osteogenesis imperfecta, type I 166200 AD APA Osteopenia and sparse hair 259690 AR(?)[wohproject.org]
Bulbous Nose
  • RETARDATION SYNDROME; SHS Classification abdominal surgical, developmental, genetic, neurological Phenotypes Abnormality of the hair ; Abnormality of the rib cage ; Anal atresia ; Ankylosis ; Anxiety ; Atrial septal defect ; Blindness ; Brachycephaly ; Bulbous[mousephenotype.org]
  • Facial features characteristic of this disorder include a long, narrow face; outside corners of the eyes that point upward (upslanting palpebral fissures); a long, bulbous nose with a low-hanging separation between the nostrils (overhanging columella)[malacards.org]
  • Characteristic craniofacial features include long triangular faces with upslanting palpebral fissures, half-depilated eyebrows, large ridged or bulbous nose with overhanging columella, short philtrum, and cupped and laterally protruding ears.[orpha.net]
  • Facial features characteristic of this disorder include a long, narrow face ; outside corners of the eyes that point upward ( upslanting palpebral fissures ); a long, bulbous nose with a low-hanging separation between the nostrils ( overhanging columella[ghr.nlm.nih.gov]
Hyperreflexia
  • Blindness ; Brachycephaly ; Bulbous nose ; Camptodactyly ; Cataract ; Cerebral atrophy ; Cleft palate ; Clinodactyly of the 5th finger ; Coloboma ; Cupped ear ; Decreased testicular size ; Epicanthus ; Hearing impairment ; High palate ; Hypermetropia ; Hyperreflexia[mousephenotype.org]
  • Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS.[ncbi.nlm.nih.gov]
  • […] muscle hypoplasia, childhood hypotonia, ataxia, athetosis, dysarthria, progressing to spastic paraplegia MCT8 (SLC16A2), Xq13 ARX-related syndromes (includes Partington, Proud, West, XLAG syndromes and nonsyndromal XLMR) Partington: dysarthria, dystonia, hyperreflexia[pediatrics.aappublications.org]
  • Neurological symptoms include spastic diplegia with limited abduction angle and patellar hyperreflexia. Based on the above-mentioned clinical signs and symptoms, the diagnosis Lenz microphthalmia syndrome has been proposed.[doi.org]
  • […] ear High hypermetropia Abnormality of the ribs Paraplegia Hypoplasia of the maxilla Iris coloboma Anxiety Spastic paraplegia Long face Sparse hair Broad columella Joint stiffness Spastic diplegia Thickened calvaria Alopecia Long philtrum Babinski sign Hyperreflexia[mendelian.co]

Workup

  • Clinical Testing and Workup There are a variety of tests that can be used to diagnose MECP2 duplication syndrome including array comparative genomic hybridization (array-CGH).[rarediseases.org]

Treatment

  • More on Genetics of Renpenning syndrome type 1 » Treatments: Renpenning syndrome type 1 Treatment : There is currently no cure for Renpenning syndrome.[familydiagnosis.com]
  • 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]
  • Management and treatment Management for Renpenning syndrome involves early education and intervention by trained therapists and treatment of any associated symptoms (cardiac defect, hypospadias, conductive deafness, strabismus).[orpha.net]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • The original reference is provided for historical interest, and review articles are included to show recent advances in etiology and treatment.[books.google.de]

Prognosis

  • Prognosis There is no cure for Renpenning syndrome but in most cases there is no decrease in life expectancy. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Prognosis Life threatening or other health concerns have not been associated with Renpenning syndrome.[encyclopedia.com]
  • Provision of prognosis or expected clinical course 3. Discussion of genetic mechanism(s) and recurrence risks 4. Refined treatment options 5. Avoidance of unnecessary or redundant diagnostic tests 6.[pediatrics.aappublications.org]
  • Prognosis Early diagnosis and intensive intervention offer the best prognosis for individuals with fragile X syndrome. Adults with fragile X syndrome may benefit from vocational training and may need to live in a supervised setting.[medical-dictionary.thefreedictionary.com]

Etiology

  • The original reference is provided for historical interest, and review articles are included to show recent advances in etiology and treatment.[books.google.de]
  • Etiology Renpenning syndrome is an X-linked condition caused by mutations in the polyglutamine tract-binding protein 1 ( PQBP1 ) gene, encoding a nuclear protein that regulates pre-mRNA splicing and transcription.[orpha.net]
  • Etiology Ann Clin Lab Sci 2018 Jul;48(4):522-527. PMID: 30143497 Zhang XY, Qi J, Shen YQ, Liu X, Liu A, Zhou Z, Han J, Zhang ZC Hum Mol Genet 2017 Mar 1;26(5):955-968. doi: 10.1093/hmg/ddx010.[ncbi.nlm.nih.gov]
  • Clarification of etiology 2. Provision of prognosis or expected clinical course 3. Discussion of genetic mechanism(s) and recurrence risks 4. Refined treatment options 5. Avoidance of unnecessary or redundant diagnostic tests 6.[pediatrics.aappublications.org]
  • The group differences in reflexive orienting between individuals with Down and fragile X syndrome at the low mental age level reinforce the practice of separating etiologies and highlight the contribution of basic attentional processes in the study of[psychology.wikia.com]

Epidemiology

  • Summary Epidemiology Prevalence is unknown.[orpha.net]
  • Trends Genet 2003; 19 : 316–320. 7 Crawford DC, Acuna JM, Sherman S : FMR1 and the fragile X syndrome: human genome epidemiology review.[nature.com]
  • Largo RH, Stützle W (1977) Longitudinal study of bowel and bladder control by day and at night in the first six years of life I: Epidemiology and interrelations between bowel and bladder control. Dev Med Child Neurol 19:598–606 Google Scholar 19.[link.springer.com]
  • "Epidemiology". Chapter 3 in Fragile X Syndrome, Diagnosis Treatment and Research. Ed. Hagerman, R. J. & Hagerman, P.J. (3rd Edition). Johns Hopkins University Press: Baltimore. Martin, J. P. & Bell, J.[psychology.wikia.com]
  • Severe self-neglect: an epidemiological and historical perspective. J Elder Abuse Negl. 2006;18(4):5-12. Fajemilehin BR, Ayandiran EO, Salami KK. Elderly destitution in Ile-Ife community of Osun State, Nigeria. Int J Nurs Pract. 2007; 13(3):161-5.[atic.com.es]
Sex distribution
Age distribution

Pathophysiology

  • X syndrome, and other autism spectrum disorders, as well as their classification as synaptopathies Presents a thorough discussion of the clinical aspects of multiple neurodevelopmental disorders and the experimental models that exist to study their pathophysiology[books.google.de]

Prevention

  • Where to Start You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC).[rarediseases.info.nih.gov]
  • (PMID: 9875212) Imafuku I … Okazawa H (Biochemical and biophysical research communications 1998) 2 3 4 60 Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5-15 kD.[genecards.org]
  • SideEffects à Optic Neuritis • Rifampin – inhibits bacterial DNAdependent RNA polymerase andthus prevents transcription of DNAinto mRNA. • Isoniazid – inhibits mycolic acidsynthesis. • FF GFR/RPF GFR CreatinineClearance/Inulin • RPF PAH • Fibroadenoma[pgneetexam.com]
  • CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications.[ncbi.nlm.nih.gov]
  • Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive[jamanetwork.com]

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