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]

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]

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]

Case Presentation: In this case report, we presented an 11-year-old male with mild developmental delay and mild intellectual disability, microcephaly, dysmorphic face, short stature, and Seizures. [sid.ir]

• 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]

  stature, microcephaly, small testes. [pediatrics.aappublications.org]

  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]

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

• Disability

  […] often in males Golabi-Ito-Hall syndrome Sutherland-Haan X-linked mental retardation syndrome X-linked intellectual disability due to PQBP1 mutations X-linked intellectual disability, Renpenning type X-linked mental retardation Renpenning type X-linked [wikidata.org]

  Synonyms Golabi-Ito-Hall syndrome, Sutherland-Haan X-linked mental retardation syndrome, syndromic X-linked mental retardation 8, X-linked intellectual disability due to PQBP1 mutations, X-linked intellectual disability, Renpenning type, X-linked mental [yeastgenome.org]

  The intellectual disabilities do not improve. TREATMENT There is currently no cure for Renpenning syndrome. [secure.ssa.gov]

  Clinical Features X-linked Intellectual Disability (XLID) contributes 10-15% of total intellectual disability (ID) in males. Renpenning Syndrome (RENS1) is a syndromic XLID that occurs exclusively in males. [preventiongenetics.com]

  […] syndrome X-linked intellectual disability with spastic diplegia MRXS3 MRXS8 Sutherland-Haan syndrome X-linked intellectual disability due to PQBP1 mutations For more information, visit GARD. [rarediseases.org]

• Trisomy 21

  By contrast, adoption at an early age mitigated some of the effects of earlier institutionalization, a prominent example of a genetically determined neurodevelopmental disorder is Trisomy 21, also known as Down syndrome. [wikivisually.com]

  It is a common cause of mental retardation, second only in frequency to the Down syndrome (trisomy 21). [wap.doctor.am]

  21 (most cases), translocation, mosaic #190685 DOYNE HONEYCOMB DYSTROPHY (MALATTIA LEVENTINESE) Retinal degeneration AD EFEMP1 #126600 DUANE-RADIAL RAY SYNDROME Strabismus, Duane anomaly, globe retraction and palpebral fissure narrowing on adduction, [eyewiki.aao.org]

• 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

  Juberg-Marsidi Syndrome: X-linked recessive inherited syndrome characterized by severe mental retardation, deafness, failure to thrive, microgenitalism, and early death. [accessanesthesiology.mhmedical.com]

  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]

• Small Head

  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]

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

  Microcephaly small cranium, Decreased circumference of cranium, Small head, Small skull, Small head circumference, Reduced head circumference, Decreased size of cranium, Decreased size of skull, Abnormally small skull, Decreased size of head, Abnormally [rarediseases.oscar.ncsu.edu]

  Signs and symptoms include the following: developmental delay, a small head ( microcephaly ), short stature, and distinctive facial features. Approximately two-thirds of individuals with Renpenning syndrome have moderate ... 1 ... [familydiagnosis.com]

• Severe Short Stature

  short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Skeletal muscle atrophy Muscle degeneration Muscle wasting [ more ] 0003202 30%-79% of people have these symptoms Abnormality of the ribs Rib abnormalities 0000772 Alopecia [rarediseases.info.nih.gov]

  Cataract Spasticity Tetralogy of Fallot Camptodactyly Coloboma Malar flattening Severe short stature Inguinal hernia Upslanted palpebral fissure Hypoplasia of the corpus callosum Feeding difficulties Motor delay Autistic behavior Macrotia Brachydactyly [mendelian.co]

• 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]

  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]

  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. [deepdyve.com]

• 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. [ncbi.nlm.nih.gov]

  These features include a short stature, small head, long and narrow face, a long and bulbous nose, a short philtrum and ears that are cup shaped. [fdna.health]

  nose with a low-hanging separation between the nostrils (overhanging columella); • Shortened philtrum (space between the base of the nose and mouth); • Seizures; and • Atrophy of skeletal muscles. [secure.ssa.gov]

  Features include short stature, spastic diplegia, significant congenital heart defects, and craniofacial abnormalities (microcephaly, cleft palate or high-arched palate, abnormal ears, bulbous nose, broad nasal bridge, malar hypoplasia, micrognathia, [accessanesthesiology.mhmedical.com]

• Ataxia

  Proud: microcephaly, ACC, spasticity, seizures, ataxia, genital anomalies. [pediatrics.aappublications.org]

  Other clinical features include ataxia, spastic paraplegia, and hydrocephalus. [accessanesthesiology.mhmedical.com]

  ] ) Ataxia-oculomotor apraxia 2 ( Spinocerebellar ataxia, autosomal recessive 1 [3] ) Ataxia-oculomotor apraxia syndrome ( Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia [4] ) Ataxia-telangiectasia [14] Ataxia-telangiectasia variant [radiomed.ru]

  Primary Sidebar Congenital and Genetic Diseases Norrie disease Spinocerebellar ataxia 8 Supernumerary nipple Hereditary sensory and autonomic neuropathy type 7 Ehlers-Danlos syndrome, cardiac valvular type Welander distal myopathy, Swedish type Acromesomelic [checkrare.com]

• 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]

  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]

  Uncomplicated X-Linked Spastic Paraplegia (SPG2): Milder form characterized by late onset, severe hyperreflexia, and spastic gait. Nystagmus, optic nerve atrophy, mild intellectual disability, and/or coordination problems are significant features. [accessanesthesiology.mhmedical.com]

  […] 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]

  Mandibular prognathia, Pectus excavatum, Micrognathia, Microphthalmia, Narrow foot, Narrow mouth, Protruding ear, Phimosis, Poor suck, Renal hypoplasia, Sensorineural hearing impairment, Seizure, Pes cavus, Nasal speech, Hypermetropia, Hypertonia, Hyperreflexia [fdna.health]

• Cerebellar Ataxia

  Joubert syndrome is a clinically and genetically heterogeneous group of ciliopathies characterized by cerebellar ataxia, ID and breathing abnormalities, sometimes including retinal dystrophy and renal disease. [autismkb.cbi.pku.edu.cn]

  34 Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss Limb-girdle muscular dystrophy Muscular dystrophy Witkop syndrome Brugada syndrome Ruzicka Goerz Anton syndrome Sacral hemangiomas multiple congenital abnormalities [checkrare.com]

  ataxia, mental retardation, and dysequilibrium syndrome VPS33B Arthrogryposis - renal dysfunction - cholestasis VRK1 Pontocerebellar hypoplasia WDR19 Asphyxiating thoracic dysplasia (ATD; Jeune), Cranioectodermal dysplasia (Levin-Sensenbrenner) type [genda.com.ar]

  ataxia with defective DNA repair 2016 2017 2018 2019 Billable/Specific Code Applicable To Ataxia telangiectasia [Louis-Bar] Type 2 Excludes Cockayne's syndrome ( Q87.1 ) other disorders of purine and pyrimidine metabolism ( E79.- ) xeroderma pigmentosum [icd10data.com]

  […] atrophy Cardiomyopathy Edema Hypertension Myopathy Ataxia Ectopic kidney Cutaneous syndactyly Heterotaxy Fever Abnormality of the genital system Constipation Cerebral cortical atrophy Depressivity Dilatation Syndactyly Vomiting Nystagmus Cleft upper [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]

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]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

Access to research treatment protocols 9. [pediatrics.aappublications.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]

Prognosis There is no cure for Renpenning syndrome but in most cases there is no decrease in life expectancy. [orpha.net]

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 Life threatening or other health concerns have not been associated with Renpenning syndrome. [encyclopedia.com]

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]

[…] function. 62 Cheng S...Han J 36815699 2023 30 A mild clinical and neuropsychological phenotype of Renpenning syndrome: A new case report with a maternally inherited PQBP1 missense mutation. 62 Lopez-Martin S...Fernandez-Jaen A 34470565 2022 31 A rare etiology [malacards.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]

Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5–15 kD. Crossref PubMed Scopus (22) Google Scholar ). [jbc.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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