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Heimler Syndrome

Deafness-Enamel Hypoplasia-Nail Defects Syndrome


Presentation

  • Treatment [ edit ] There is no treatment for this condition known at present. Prognosis [ edit ] This condition tends to produce only mild abnormalitis.[en.wikipedia.org]
  • Acronym HMLR2 Synonyms PBD4C Peroxisome biogenesis disorder 4C Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • […] enamel hypoplasia nail defects Hearing loss, sensorineural, with enamel hypoplasia and nail defects PBD1C Peroxisome biogenesis disorder 1C Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities Keywords Any medical or genetic information present[uniprot.org]
  • A multidisciplinary team of leading authorities presents the latest on sleep breathing disorders (including obstructive sleep apnea), neuropharmacology, parasomnias, neurologic disorders affecting sleep, sleep therapy for women, sleep therapy in geriatric[books.google.com]
Nail Abnormality
  • Am J Hum Genet 97(4):535-545 Heimler A, Fox JE, Hershey JE, Crespi P: Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs.[en.wikipedia.org]
  • Abstract Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation.[ncbi.nlm.nih.gov]
  • Acronym HMLR1 Synonyms Deafness enamel hypoplasia nail defects Hearing loss, sensorineural, with enamel hypoplasia and nail defects PBD1C Peroxisome biogenesis disorder 1C Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities Keywords[uniprot.org]
  • Figure 1 The 12 year old girl with amelogenesis imperfecta, unilateral hearing loss, and nail abnormalities. Figure 2 (A, B) Transverse grooves (Beau's lines) on finger nails in index case.[jmg.bmj.com]
Camping
  • SG, Roberts NA, El Alloussi M, Black GC, Ferdinandusse S, Ramdi H, Heimler A, Fryer A, Lynch SA, Cooper N, Ong KR, Smith CE, Inglehearn CF, Mighell AJ, Elcock C, Poulter JA, Tischkowitz M, Davies SJ, Sefiani A, Mironov AA, Newman WG, Waterham HR, Van Camp[en.wikipedia.org]
  • Ferdinandusse S 2, Ramdi H 6, Heimler A 7, Fryer A 8, Lynch SA 9, Cooper N 10, Ong KR 10, Smith CE 11, Inglehearn CF 11, Mighell AJ 12, Elcock C 13, Poulter JA 11, Tischkowitz M 14, Davies SJ 15, Sefiani A 16, Mironov AA 17, Newman WG 4, Waterham HR 18, Van Camp[ncbi.nlm.nih.gov]
  • Waterham and Guy Van Camp, Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6, The American Journal of Human Genetics, 10.1016/j.ajhg.2015.08.011, 97, 4, (535-545), (2015). Hans R.[doi.org]
  • Waterham , 2, 22, and Guy Van Camp 3, 22, This article has been cited by other articles in PMC.[ncbi.nlm.nih.gov]
Hearing Impairment
  • Consequently, the disruption of Ush2a in zebrafish led to a hearing impairment, like that in mamm...[medworm.com]
  • , early retinitis pigmentosa (RP); USH2: progressive hearing impairment, RP).[scilit.net]
  • HEIMLER SYNDROME 2; HMLR2 Is also known as peroxisome biogenesis disorder 4c;pbd4c Related symptoms: Autosomal recessive inheritance Hearing impairment Sensorineural hearing impairment Tics Talipes equinovarus SOURCES: UMLS OMIM MONDO More info about[mendelian.co]
  • . * Enrolment in an appropriate educational program for the hearing impaired. * Computed tomography of the temporal bones, especially if there is evidence of progressive hearing impairment. * Full kidney screening (urine, bloods and ultrasounds) followed[thecainfoundation.com]
  • Hearing loss is treated based on the cause of the hearing impairment. Usually those with conductive hearing loss benefit from therapy and may be prescribed hearing aids.[news-medical.net]
Retinal Pigmentation
  • Abstract Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation.[ncbi.nlm.nih.gov]
  • pigmentation Signs/symptoms [ edit ] This condition is characterised by sensorineural hearing loss, enamel hyoplasia of the secondary dentition, nail abnormalities and occasional or late-onset retinal pigmentation abnormalities.[en.wikipedia.org]
  • FA showed mottling of the retinal pigment epithelium (RPE) in the posterior pole and periphery of the retina. FAF revealed hyper and hypoautofluorescent dots corresponding to the RPE mottling observed on FA.[ncbi.nlm.nih.gov]
Visual Impairment
  • We report on a second Moroccan family with Heimler syndrome with early onset, severe visual impairment and important phenotypic overlap with Usher syndrome.[ncbi.nlm.nih.gov]
  • FT VARIANT 413 413 G - V (in PBD-CG4; disease phenotype FT includes hearing loss, visual impairment, FT enamel dysplasia microcephaly with deep FT white matter changes and developmental FT delay). {ECO:0000269 PubMed:26593283}. FT /FTId VAR_077508.[genome.jp]
  • Other interventions may include speech therapy for motor dysfunction; occupational and physical therapy; educational support, special programs for the visually impaired; and feedings through a gastrostomis tube.[centogene.com]
  • impairment Hypermetropia Poor speech Esotropia Psychosis Amblyopia Open bite Hyperplasia of the maxilla Intellectual disability, mild Kyphoscoliosis Stenosis of the external auditory canal Broad nasal tip Thick lower lip vermilion Long foot Neonatal[mendelian.co]
Leukonychia
  • We report monozygotic twin girls with a combination of bilateral severe sensorineural deafness diagnosed at the age of 3 years, normal primary dentition but enamel hypoplasia affecting the secondary dentition and Beau's lines and leukonychia of the nails[ncbi.nlm.nih.gov]
  • Hereditary leukonychia manifests at birth or early infancy, whereas the acquired type appears in childhood. Leukonychia can be a true leukonychia involving the nail plate.[e-ijd.org]
  • Intermittent hyperventilation Facial cleft Narrow foot Triangular nasal tip Broad fingertip Overhanging nasal tip Cognitive impairment X-linked inheritance Absence seizures Talipes equinovarus Bilateral sensorineural hearing impairment Deviated nasal septum Leukonychia[mendelian.co]
Fair Complexion
  • She had a fair complexion (fig 1 ) and examination of her nails showed multiple transverse grooves (Beau's lines) on several fingers and toes (fig 2 A, B). There was no evidence of leuconychia.[jmg.bmj.com]
Short Arm
  • PEX 1 is located on long arm of chromosome 7 (7q21).2 PEX 6 is located on the short arm of chromosome 6 (6p21). These genes encode AAA ATPases.[en.wikipedia.org]
Long Arm
  • PEX 1 is located on long arm of chromosome 7 (7q21).2 PEX 6 is located on the short arm of chromosome 6 (6p21). These genes encode AAA ATPases.[en.wikipedia.org]
Suggestibility
  • Our patient had no evidence of punctate leuconychia which was described in the original family, which could suggest that this feature may have been an incidental finding in the original report, as it is a common normal variant.[jmg.bmj.com]
  • Although individuals with HS share some subtle clinical features found in PBDs, the diagnosis was not suggested by routine blood and skin fibroblast analyses used to detect PBDs.[ncbi.nlm.nih.gov]
  • Abstract Clinical observations are presented which suggest that growth failure may, at times, be a truly psychosomatic disorder.[pediatrics.aappublications.org]
  • However, these findings suggest that the PEX6 c.1802G A allele is a risk allele for mild PBD when in trans with a severe PEX6 allele.[ncbi.nlm.nih.gov]

Workup

  • […] mitochondrial and peroxisomal fission among patients with unexplained lactic acidemia. 24 Assessment of the morphologic characteristic of mitochondria in cultured cells with the use of a fluorescent probe could serve as an informative step in the diagnostic workup[nejm.org]

Treatment

  • Treatment [ edit ] There is no treatment for this condition known at present. Prognosis [ edit ] This condition tends to produce only mild abnormalitis.[en.wikipedia.org]
  • Visual acuity in patient 1 was 20/80 and 20/25 following treatment of intraretinal cystoid spaces with carbonic anhydrase inhibitors, while patient 2 had visual acuity of 20/20 in both eyes without intraretinal cysts.[ncbi.nlm.nih.gov]
  • Find diagnostic and treatment information quickly and easily thanks to a highly illustrated, easy-to-read format that highlights key details.[books.google.com]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]

Prognosis

  • Prognosis [ edit ] This condition tends to produce only mild abnormalitis.[en.wikipedia.org]
  • Prognosis [ edit ] Currently, no cure for Zellweger syndrome is known, nor is a course of treatment made standard. Infections should be guarded against to prevent such complications as pneumonia and respiratory distress.[en.wikipedia.org]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • It is suggested that investigation of the emotional and social environment may be fruitful in many cases of growth retardation of "undetermined etiology." Received March 29, 1962. Accepted June 8, 1962.[pediatrics.aappublications.org]
  • CEP164 Nephronophthisis CEP250 recessive Usher syndrome CEP290/BBS14 Bardet-Biedl syndrome, Leber congenital amaurosis, Joubert syndrome, Senior-Loken syndrome, Meckel syndrome CERKL Retinitis pigmentosa CFH age-related macular degeneration, complex etiology[molecularvisionlab.com]

Epidemiology

  • Epidemiology [ edit ] This is rare disorder. Precise estimates of its prevelence are not known but it appears be to be 1/10 6 Diagnosis [ edit ] The diagnosis is made on clinical grounds and confirmed by gene sequencing.[en.wikipedia.org]
  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.de]
  • Owing to the efforts of a working group of the Commission on Oral Health, Research and Epidemiology of the International Dental Federation (FDI), a standardized terminology,which accompanies the FDI (DDE) Index, has been established [21,22].[austinpublishinggroup.com]
  • Relevant External Links for PEX1 Genetic Association Database (GAD) PEX1 Human Genome Epidemiology (HuGE) Navigator PEX1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PEX1 No data available for Genatlas for PEX1 Gene Human PEX1 is mutated[genecards.org]
Sex distribution
Age distribution

Pathophysiology

  • These models provide a better understanding of the pathophysiology underlying USH2A-associated RP and a unique opportunity to evaluate future therapeutic strategies.[medworm.com]
  • Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives. Dev. Disabil. Res. Rev. 2013; 17 :187–196. [ Google Scholar ] 36. Aubourg P., Wanders R. Peroxisomal disorders. Handb. Clin.[ncbi.nlm.nih.gov]
  • Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives. Dev. Disabil. Res. Rev. 2013; 17 :187–196. [ PubMed ] [ Google Scholar ] 36. Aubourg P., Wanders R. Peroxisomal disorders. Handb. Clin.[ncbi.nlm.nih.gov]

Prevention

  • […] of hearing loss Prevention of hearing loss involves reducing the risks.[news-medical.net]
  • Infections should be guarded against to prevent such complications as pneumonia and respiratory distress. Other treatment is symptomatic and supportive.[en.wikipedia.org]
  • The treatment plan focused on restoring the posterior primary and permanent teeth for resolving the sensitivity and preventing tooth loss. References Kirzioglu Z, Ulu KG, Sezer MT, Yuksel S.[jdmt.mums.ac.ir]
  • On the other hand, it is also important to perform complete studies in fibroblasts to prevent the possibility that a diagnosis with pathogenic mutations is unjustly discarded.[link.springer.com]

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