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]

• Developmental Delay

  Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

  Signs and symptoms include the following: developmental delay, a small head (microcephaly), short stature, and distinctive facial features. [malacards.org]

  delay Hyperreflexia Intellectual disability Seizure Spasticity Abnormality of the voice Nasal speech Ear malformation Cupped ear Hearing impairment Macrotia Protruding ear Growth abnormality Short stature IMPORTANT NOTE: NIH does not independently verify [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

  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]

• Muscular Atrophy

  Metacarpophalangeal ankylosis of the thumb and muscular atrophy of the intrinsic muscles of the hand can occur in some cases. [orpha.net]

  Additional features may include heart defects, muscular atrophy, 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 [rarediseases.org]

  Three new clinical features are described: upper back progressive muscular atrophy, metacarpophalangeal ankylosis of the thumb and velar dysfunction. [hal.archives-ouvertes.fr]

  Additional features may include heart defects, muscular atrophy, cleft palate, and eye abnormalities. Renpenning syndrome is caused by mutations in the PQBP1 gene and is inherited in an X-linked recessive manner. [rareguru.com]

• 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]

• Cup-Shaped Ears

  Cupped ear Capuchin ears, Simple, cup-shaped ears, Cup-shaped ears [more] Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). [rarediseases.oscar.ncsu.edu]

  About 20 percent of individuals with this disorder also have other features, which may include: • Cup-shaped ears; • Small testes; • Coloboma (malformation of the eye); • Cleft palate (opening in the roof of the mouth); • Heart abnormalities; and • Anal [secure.ssa.gov]

• 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]

• Suggestibility

  Suggested Listings for Evaluation: DETERMINATION LISTING REMARKS Meets 111.02 112.05 Equals * Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. [secure.ssa.gov]

  These data suggest that the same pathogenetic mechanism can be applied to the 2-bp deletion present in this family. [doi.org]

  Abstract References Citations Supplementary Data Suggestions Mutations in the PQBP1 gene are associated with Renpenning syndrome (RENS1, MIM# 309500). [ingentaconnect.com]

  Want to suggest a symptom? Please send suggestions to RareGuru! [rareguru.com]

  Scientists suggested that the syndrome with mutation mapped to the locus Xp11. 2-p11. 4 should be called Renpenning Syndrome. [sid.ir]

• Narrow Face

  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]

  [from OMIM] Show allHide all Abnormality of head or neck Bulbous nose Cleft palate Epicanthal fold High palate Long face Low hanging columella Macrodontia Mandibular prognathia Narrow face Narrow mouth Short philtrum Sparse lateral eyebrow Telecanthus [ncbi.nlm.nih.gov]

  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. [malacards.org]

  Am J Med Genet A. 2005;134(4):415-21. [ Show abstract ] Microcephaly Narrow face DLG3 PQBP1 rs121917899 rs1557041239 rs1557041891 rs606231193 rs781844953 rs868977761 Adult Carrier Proteins DNA Mutational Analysis Face Females Growth Disorders Homo sapiens [pubcasefinder.dbcls.jp]

• 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]

• Long Narrow Face

  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]

  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]

  Disease Ontology Term: Renpenning syndrome DO ID DOID:0060179 Description An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked [yeastgenome.org]

  Physical findings: Characteristic physical findings for Renpenning syndrome include: • Short stature; • Microcephaly (abnormally small head size); • Long, narrow face; • Outside corners of eyes that slant up (upslanting palpebral fissures); • Long bulbous [secure.ssa.gov]

• Global Developmental Delay

  developmental delay Hyperreflexia Intellectual disability Seizure Spasticity Abnormality of the voice Nasal speech Ear malformation Cupped ear Hearing impairment Macrotia Protruding ear Growth abnormality Short stature IMPORTANT NOTE: NIH does not independently [ncbi.nlm.nih.gov]

  delay and autism. 2Q24 MICRODELETION SYNDROME Is also known as del(2)(q24); monosomy 2q24 Related symptoms: Intellectual disability Seizures Global developmental delay Hypertelorism Growth delay SOURCES: ORPHANET UMLS More info about 2Q24 MICRODELETION [mendelian.co]

  Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

  Signs and symptoms include the following: developmental delay, a small head ( microcephaly ), short stature, and distinctive facial features. [rarediseases.info.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]

  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]

• Delayed Milestone

  Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

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]

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]