A Síndrome de Schilbach-Rott (SSR) é uma condição genética hereditária que causa características físicas peculiares. Ela é transmitida de forma dominante, ou seja, basta herdar uma cópia alterada do gene para desenvolvê-la, e não está ligada aos cromossomos sexuais. A síndrome se caracteriza por um rosto com traços incomuns, como: olhos mais próximos do que o normal (hipotelorismo), pálpebras pequenas com abertura dos olhos estreita (blefarofimose) e fenda palatina (céu da boca fendido). Em meninos, é comum a ocorrência de hipospadia (abertura da uretra na parte inferior do pênis).
Introdução
O que você precisa saber de cara
A Síndrome de Schilbach-Rott (SSR) é uma condição genética hereditária que causa características físicas peculiares. Ela é transmitida de forma dominante, ou seja, basta herdar uma cópia alterada do gene para desenvolvê-la, e não está ligada aos cromossomos sexuais. A síndrome se caracteriza por um rosto com traços incomuns, como: olhos mais próximos do que o normal (hipotelorismo), pálpebras pequenas com abertura dos olhos estreita (blefarofimose) e fenda palatina (céu da boca fendido). Em meninos, é comum a ocorrência de hipospadia (abertura da uretra na parte inferior do pênis).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 9 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 21 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.
Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehog's proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis
Cell membrane
Basal cell nevus syndrome 1
A form of basal cell nevus syndrome, a disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. BCNS1 inheritance is autosomal dominant.
Variantes genéticas (ClinVar)
4,861 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
5 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Schilbach-Rott
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Long-term nitrogen and phosphorus removal, shifts of functional bacteria and fate of resistance genes in bioretention systems under sulfamethoxazole stress.
To understand the long-term performance of bioretention systems under sulfamethoxazole (SMX) stress, an unplanted bioretention system (BRS) and two modified BRSs with coconut-shell activated carbon (CAC) and CAC/zero-valent-iron (Fe0) granules (CAC-BRS and Fe/CAC-BRS) were established. Both CAC-BRS and Fe/CAC-BRS significantly outperformed BRS in removing total nitrogen (TN) (CAC-BRS: 82.48%; Fe/CAC-BRS: 78.08%; BRS: 47.51%), total phosphorous (TP) (CAC-BRS: 79.36%; Fe/CAC-BRS: 98.26%; BRS: 41.99%), and SMX (CAC-BRS: 99.74%, Fe/CAC-BRS: 99.80%; BRS: 23.05%) under the long-term SMX exposure (0.8 mg/L, 205 days). High-throughput sequencing revealed that the microbial community structures of the three BRSs shifted greatly in upper zones after SMX exposure. Key functional genera, dominantly Nitrospira, Rhodoplanes, Desulfomicrobium, Geobacter, were identified by combining the functional prediction by the FAPROTAX database with the dominant genera. The higher abundance of nitrogen functional genes (nirK, nirS and nosZ) in CAC-BRS and Fe/CAC-BRS might explain the more efficient TN removal in these two systems. Furthermore, the relative abundance of antibiotic-resistant genes (ARGs) sulI and sulII increased in all BRSs along with SMX exposure, suggesting the selection of bacteria containing sul genes. Substrates tended to become reservoirs of sul genes. Also, co-occurrence network analysis revealed distinct potential host genera of ARGs between upper and lower zones. Notably, Fe/CAC-BRS succeeded to reduce the effluent sul genes by 1-2 orders of magnitude, followed by CAC-BRS after 205-day exposure. This study demonstrated that substrate modification was crucial to maintain highly efficient nutrients and SMX removals, and ultimately extend the service life of BRSs in treating SMX wastewater.
Impact of list-mode reconstruction and image-space point spread function correction on PET image contrast and quantitative value using SiPM-based PET/CT system.
We evaluate the effects of list-mode reconstruction and the image-space point spread function (iPSF) on the contrast and quantitative values of positron emission tomography (PET) images using a SiPM-PET/CT system. The evaluation is conducted on an NEMA body phantom and clinical images using a Cartesion Prime SiPM-PET/CT system. The signal-to-background ratio (SBR) of the phantom is set to 2, 4, 6, and 8, and all the PET image data are obtained and reconstructed using 3D-OSEM, time-of-flight, iPSF (-/ +), and a 4-mm Gaussian filter with several iterations. The evaluation criteria include % background variability (NB,10 mm), % contrast (QH,10 mm), iPSF change in QH,10 mm (ΔQH,10 mm) for edge artifact evaluation, profile curves, visual evaluation of edge artifacts, clinical imaging for the standardized uptake value (SUV) of lung nodules, and SNRliver. NB,10 mm demonstrates no significant difference in all SBRs with and without iPSF, whereas QH,10 mm is higher based on the SBR with and without iPSF. ΔQH,10 mm indicates increased iterations and a larger rate of change (> 5%) for small spheres of < 17 mm. The profile curves portrayed almost real concentrations, except for the 10-mm sphere of SBR2 without iPSF; however, with iPSF, an overshoot was observed in the 13-mm sphere of all SBRs. The degree of overshoot increased with increasing iteration and SBR. Edge artifacts were detected at values ≥ 17-22 mm in SBRs other than SBR2 with iPSF. Irrespective of the nodal size, SUV and SNRliver improved considerably after iPSF adjustment. Therefore, the effects of list-mode reconstruction and iPSF on PET image contrast were limited, and the overcorrection of the quantitative values was validated using iPSF.
Effect of cerebrospinal fluid area mask correction on 123I-FP-CIT SPECT images in idiopathic normal pressure hydrocephalus.
Cerebrospinal fluid (CSF) area mask correction reduces the influence of low [123I]-N-fluoropropyl-2b-carbomethoxy-3b-(4-iodophenyl) nortropane (123I-FP-CIT) accumulation in the volume of interest (VOI) by CSF area dilatation on the specific binding ratio (SBR) calculated using the Southampton method. We assessed the effect of CSF area mask correction on the SBR for idiopathic normal pressure hydrocephalus (iNPH) characterized by CSF area dilatation. We enrolled 25 patients with iNPH who were assessed using 123I-FP-CIT single-photon emission computed tomography (SPECT) before shunt surgery or the tap test. The SBRs with and without CSF area mask correction were calculated, and changes in quantitative values were verified. Additionally, the number of voxels in the striatal and background (BG) VOI before and after CSF area mask correction were extracted. The number of voxels after correction was subtracted from that before correction, and the volume removed by the CSF area mask correction was calculated. The volumes removed from each VOI were compared to verify their effect on SBR. The images of 20 and 5 patients with SBRs that were decreased and increased, respectively, by CSF area mask correction showed that the volumes removed from the BG region VOI were higher and lower, respectively than those in the striatal region. The SBR before and after CSF area mask correction was associated with the ratio of the volume removed from the striatal and BG VOIs, and the SBR was high or low according to the ratio. The results suggest that CSF area mask correction is effective in patients with iNPH. This study was registered in the UMIN Clinical Trials Registry (UMIN-CTR) as UMIN study ID: UMIN000044826. 11/07/2021.
Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene.
Schilbach-Rott syndrome (SRS, OMIM%164220) is a disorder of unknown aetiology that is characterised by hypotelorism, epichantal folds, cleft palate, dysmorphic face, hypospadia in males and mild mental retardation in some patients. To date, 5 families and 17 patients have exhibited this phenotype, and recurrence in two of these families suggests an autosomal dominant inheritance. SRS overlaps with a mild form of holoprosencephaly (HPE), but array-CGH analysis and sequencing of some HPE-related genes (SEPT9, SHH and TWIST) did not reveal any variants in at least one family. Herein, we investigated by array-CGH analysis a 11-year-old female patient and her father, both exhibiting the typical SRS phenotype, disclosing in the daughter-father couple the same microduplication of chromosome 9q22.32q22.33 [arr[hg19]9q22.32(98,049,611_98,049,636)x3,9q22.33 (99,301,483_99,301,508)x3], involving eight genes, including PTCH1. The duplication segregated with the disease, since it was not found in the healthy paternal grandparents of the proband. The gain-of-function variants of the PTCH1 gene are responsible for a mild form of HPE. This is the first genetic variant found in SRS. This finding reinforces the hypothesis that SRS belongs to the HPE clinical spectrum and suggests to perform array-CGH in patients with SRS phenotype and, if negative, to consider a potential benefit from sequencing of HPE-related genes.
Publicações recentes
Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene.
Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome.
Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient.
Schilbach-Rott syndrome in a third family: further delineation of an autosomal dominant trait.
Cleft palate, hypotelorism, and hypospadias: Schilbach-Rott syndrome.
📚 EuropePMC4 artigos no totalmostrando 4
Impact of list-mode reconstruction and image-space point spread function correction on PET image contrast and quantitative value using SiPM-based PET/CT system.
Radiological physics and technologyEffect of cerebrospinal fluid area mask correction on 123I-FP-CIT SPECT images in idiopathic normal pressure hydrocephalus.
BMC medical imagingLong-term nitrogen and phosphorus removal, shifts of functional bacteria and fate of resistance genes in bioretention systems under sulfamethoxazole stress.
Journal of environmental sciences (China)Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene.
European journal of human genetics : EJHGAssociações
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Síndrome Schilbach-Rott
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Long-term nitrogen and phosphorus removal, shifts of functional bacteria and fate of resistance genes in bioretention systems under sulfamethoxazole stress.
- Impact of list-mode reconstruction and image-space point spread function correction on PET image contrast and quantitative value using SiPM-based PET/CT system.
- Effect of cerebrospinal fluid area mask correction on 123I-FP-CIT SPECT images in idiopathic normal pressure hydrocephalus.
- Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene.
- Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome.
- Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient.
- Schilbach-Rott syndrome in a third family: further delineation of an autosomal dominant trait.
- Cleft palate, hypotelorism, and hypospadias: Schilbach-Rott syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2353(Orphanet)
- OMIM OMIM:164220(OMIM)
- MONDO:0008113(MONDO)
- GARD:2930(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55781295(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
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