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]

The present case study of a 8.5 years-old male child with a missense novel mutation in the PQBP1 gene expands existing understanding of this syndrome by presenting a milder clinical and neuropsychological phenotype. [ingentaconnect.com]

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

Although the first family described with Renpenning syndrome was from Canada, this condition is believed to be present in all racial and ethnic groups. [rareguru.com]

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]

• Short Stature

  Renpenning syndrome - X-linked mental retardation with short stature and microcephaly. Medical Eponyms © Farlex 2012 [medical-dictionary.thefreedictionary.com]

  Mild short stature Relative short stature A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex. [rarediseases.oscar.ncsu.edu]

  It is characterized by mental retardation, short stature, a smaller than normal head circumference (microcephaly), and small testes. [encyclopedia.com]

  Typical signs include microcephaly, dysmorphic features, short stature, small testes, and lean body build. Renpenning syndrome is caused by mutations in the polyglutamine binding protein 1 (PQBP1) gene. [jhu.pure.elsevier.com]

  Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. [ncbi.nlm.nih.gov]

• 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]

  […] to thrive Micrognathia And another 93 symptoms. [mendelian.co]

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

• Sparse Hair

  Sparse hair Abnormality of the musculoskeletal system Brachycephaly Camptodactyly Joint contracture of the hand Malar flattening Microcephaly Micrognathia Pectus excavatum Scoliosis Abnormality of the nervous system Anxiety Cerebral atrophy Global developmental [ncbi.nlm.nih.gov]

  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]

  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]

• Bulbous Nose

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

  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) [encyclopedia.pub]

  Dysmorphic and congenital abnormality syndromes Version 1.5 review X-LINKED: hemizygous mutation in males, biallelic mutations in females Sources Expert Review Red Literature Phenotypes Kabuki-like syndrome intellectual disability long triangular face bulbous [panelapp.genomicsengland.co.uk]

  Bulbous nose Bulbous nasal tip, Potato nose Increased volume and globular shape of the anteroinferior aspect of the nose. [rarediseases.oscar.ncsu.edu]

• Hyperreflexia

  Abnormality of the musculoskeletal system Brachycephaly Camptodactyly Joint contracture of the hand Malar flattening Microcephaly Micrognathia Pectus excavatum Scoliosis Abnormality of the nervous system Anxiety Cerebral atrophy Global developmental delay Hyperreflexia [ncbi.nlm.nih.gov]

  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]

  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]

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]

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]

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

[…] cleft palate, and eye abnormalities. [10541][1578] Renpenning syndrome is caused by mutations in the PQBP1 gene and is inherited in an X-linked recessive manner. [10541][1578][1579] Management involves early intervention by trained therapists along with treatment [rarediseases.org]

Management may include early educational intervention and treatment of any associated symptoms such as heart defects or eye abnormalities. [rareguru.com]

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]

Last updated on 05-01-20 What is the prognosis for individuals with Renpenning syndrome? In most cases, life expectancy does not appear to be shortened for those with Renpenning syndrome. [rareguru.com]

A rare etiology of tetralogy of Fallot with pulmonary atresia: Renpenning syndrome. Anatol J Cardiol 2022; 26; 149-50. Files [anatoljcardiol.com]

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]

The original reference is provided for historical interest, and review articles are included to show recent advances in etiology and treatment. [books.google.de]

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]

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]

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]

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