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]

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]

Instead, 11 unrelated residues would be present at its C-terminus. [doi.org]

However, the common clinical manifestations, MR, microcephaly, and short stature, are present in all families. [ncbi.nlm.nih.gov]

• Short Stature

  Individuals with Renpenning syndrome typically have short stature and a small head size (microcephaly). [malacards.org]

  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]

  Common features of X-linked mental retardation caused by PQBP1 mutation seem to be mental retardation, microcephaly, and short stature. [egl-eurofins.com]

• Nasal Voice

  […] bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal [rarediseases.info.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]

  Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. [mendelian.co]

  Other reported features include failure to thrive, growth restriction, extrapyramidal features, spasticity, seizures and muscular atrophy. [invitae.com]

  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

  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]

  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]

  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]

  hair 0008070 Sparse lateral eyebrow Limited hair on end of eyebrow 0005338 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Tetralogy of Fallot 0001636 Thin upper lip vermilion Thin upper lip 0000219 Triangular face Face with broad [rarediseases.info.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]

  The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. [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]

• 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]

  […] 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]

  Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. [ncbi.nlm.nih.gov]

  Cup-shaped ears Simple, cup-shaped ears [ more ] 0000378 Hearing impairment Deafness Hearing defect [ more ] 0000365 High palate Elevated palate Increased palatal height [ more ] 0000218 Hypermetropia Farsightedness Long-sightedness [ more ] 0000540 Hyperreflexia [rarediseases.info.nih.gov]

  […] 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]

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]

More on Genetics of Renpenning syndrome type 1 » Treatments: Renpenning syndrome type 1 Treatment : There is currently no cure for Renpenning syndrome. [familydiagnosis.com]

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]

Treatment[edit] There is no specific or curative treatment for this condition at present. [en.wikipedia.org]

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]

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 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]

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]

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]

Maternal uniparental disomy for chromosome 7 is known to play a role in its etiology. [icd10data.com]

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]

Management is supportive Epidemiology[edit] This condition normally only occurs in males but a case in a female has been reported.[2] History[edit] This condition was first characterized in 1962.[3] and later described by Hans Renpenning in 1963 after [en.wikipedia.org]

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]

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]

(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]

Where to Start You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). [rarediseases.info.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]

Prompt treatment of spasticity may prevent the development of contractures. [rarediseases.org]