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Craniossinostose sagital e bicoronal não-sindrômica
ORPHA:620205CID-10 · Q75.0CID-11 · LB70.0YDOENÇA RARA
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Introdução

O que você precisa saber de cara

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Craniossinostose sagital e bicoronal não-sindrômica é uma condição rara caracterizada pelo fechamento prematuro das suturas sagital e bicoronal do crânio, sem outras anomalias associadas. Isso resulta em deformidades cranianas específicas e pode afetar o desenvolvimento cerebral.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q75.0
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa11
Últimos 10 anos5publicações
Pico20151 papers
Linha do tempo
20202015Hoje · 2026
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

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Nenhum gene associado encontrado

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Diagnóstico

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Tratamento e manejo

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Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Craniossinostose sagital e bicoronal não-sindrômica

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Risk of Reading Difficulties in School-age Children Treated for Non-syndromic Craniosynostosis.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association2025 Dec

ObjectiveWe assessed the prevalence of guardian-reported reading difficulties in children treated for non-syndromic craniosynostosis (NSC) and in relation to the location of the closed suture. Additionally, we determined correlations with guardian-reported neurodevelopmental disorders (NDDs) and associations between reported reading ability, sex, timing of surgical intervention, parental education, and heredity of reading difficulties in guardians.DesignCross-sectional, prospective, population-based study.SettingTertiary hospital.ParticipantsThe cohort included 127 participants (aged 9-10 years) treated for NSC (76 sagittal, 38 metopic, 9 unicoronal, and 1 each of bicoronal, lambdoid, frontosphenoidal, and multisuture NSC).Main outcome measuresThe prevalence of guardian-reported reading difficulties was defined as a score ≥8 out of 14 points on the Short Dyslexia Scale. We determined associations between reported reading ability and reported NDDs through binomial regression analysis.ResultsThe cohort demonstrated a 14.2% risk of of guardian-reported reading difficulties, with sagittal, metopic, and unicoronal NSCs exhibiting respective prevalences of 10.5%, 18.4%, and 23.1%. NDDs were reported in 22% of participants and significantly associated with reading difficulties.ConclusionsThe results indicated that participants with sagittal NSC showed the lowest risk of reading difficulties. Additionally, we found that NDDs represent significant risk factors for guardian-reported reading difficulties across the patient cohort. These findings underscore the need for targeted screening and support, especially for patients with metopic and unicoronal NSC, to guide clinical and educational decisions.

#2

Exploring Different Management Modalities of Nonsyndromic Craniosynostosis.

Cureus2024 May

Craniosynostosis is an atypical skull shape characterized by the premature fusion of cranial sutures. It is one of the most common congenital anomalies encountered by craniofacial surgeons, with a prevalence of one in every 2000-2500 births. It is classified into two main types: syndromic and nonsyndromic. In syndromic, the patient presents with other abnormalities involving the trunk, face, or extremities. While in nonsyndromic the only anomy is the premature fusion, which usually involves one suture; the most common subtypes are unicoronal, sagittal, bicoronal, metopic, and lambdoid. As a consequence, premature fusion before its natural time restricts the space for the brain to grow, increases intracranial pressure, causes damage to the brain tissue, and affects the development of the child. This review comprehensively provides a detailed overview of nonsyndromic craniosynostosis and aims to highlight the importance of early and accurate diagnosis, and determining the most suitable intervention, whether surgical or conservative modalities. The optimal treatment approach produces the most favorable aesthetic and functional outcomes.

#3

Determining the fate of cranial sutures after surgical correction of non-syndromic craniosynostosis.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery2017 Nov

"Secondary craniosynostosis" (SCS) refers to a loss of sutures after corrective vault reconstruction. There are no prior studies that comprehensively review SCS in various types of non-syndromic craniosynostosis. We assessed idiopathic and iatrogenic SCS using 3-dimensional computed tomography (3D CT). We also performed a systematic review to estimate the overall incidence of SCS in each craniosynostosis type, and to characterize its clinical features. We retrospectively reviewed the CT images of patients who underwent surgical correction of craniosynostosis for all types of craniosynostosis between August 1999 and December 2015. A literature search of the Medline and Ovid databases was conducted in October 2016 using the search term "secondary craniosynostosis." In our series, iatrogenic SCS was observed in all patients who had manipulated normal patent sutures to variable extents. Three (17.6%) cases of idiopathic SCS developed on sagittal sutures, and were confirmed with a 12-month follow-up CT. In a pooled analysis of 10 articles, overall SCS developed in 123 of 1205 patients (10.2%). Iatrogenic SCS cases made up 87 of 1205 cases (7.2%), whereas 38 (3.1%) were idiopathic. Idiopathic SCS most commonly developed at the bi-coronal suture (n = 32, 84.2%), followed by the sagittal suture (n = 4, 10.5%) and uni-coronal suture (n = 1, 2.6%). This is the first review not only to describe SCS in all types of non-syndromic craniosynostosis, but also to classify SCS into iatrogenic and idiopathic types based on the underlying pathogenesis.

#4

[Non syndromic craniosynostosis].

Annales de chirurgie plastique et esthetique2016 Oct

Craniosynostosis are rare congenital malformations of the skull resulting from the premature fusion of one or several cranial sutures. Prevalence is considered in approximately 1 on 2000 births. Non syndromic craniosynostosis (NSC) or isolated form are the most frequent forms (85 % of the cases). They are classified most of the time according to the synostotic suture(s) and the engendered cranial deformation: sagittal synostosis or scaphocephaly, metopic synostosis or trigonocephaly, bicoronal synostosis or brachycephaly, coronal synostosis or plagiocephaly and oxycephaly. Although the multifactorial origin is commonly admitted, the precise mechanisms which lead to the premature fusion of a suture, remain incompletely resolute. The main risks are the intracranial high blood pressure and its consequences on the psychomotor development, the visual or respiratory infringement which can require a surgery in emergency. The treatment is realized by multidisciplinary teams allowing to provide a strategy adapted to every situation. The decision-making process depends on patient's age, on the type and severity of the craniosynostosis, and on the patient's health. This surgery is ideally performed before the age of 1 year and indication only in morphological purpose is widely recognized to avoid any social damage to the child. The follow-up is essential and is made throughout the growth in particular to detect a recurrence or the evolution towards a complex form of craniosynostosis.

#5

Expansion and compression distraction osteogenesis based on volumetric and neurodevelopmental analysis in sagittal craniosynostosis.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2015 Nov

Distraction osteogenesis (DO) is a less daunting procedure than extensive cranial vault remodeling and has been used to correct sagittal craniosynostosis. The purposes of this study are to describe DO in combination with expansion and compression procedures and to report analytic results based on the cranial index (CI), volumetric measurement, and neurodevelopmental tests. Between June 2002 and May 2013, 32 patients with non-syndromic sagittal synostosis who had undergone antero-posterior compression with bitemporal expansion were recruited. Circumferential baseline, mid-sagittal, and bicoronal craniotomies were performed in addition to four-quadrant bone flap procedures via distraction with dural attachment. CI, intracranial volume (ICV), head circumference (HC), and neurodevelopmental outcomes using the Bayley Scales of Infant Development-II (BSID-II) scoring system were analyzed. Dolichocephalic CI (68.85 ± 3.61) was altered to mesocephalic CI (78.28 ± 3.74) postoperatively. Preoperative ICV and HC determinations were within the normal range for the majority of participants (normal ICV 87.5%, n = 28; normal HC 75%, n = 24). ICV and HC did not show significant changes with postoperative measurements and were maintained within normal ranges. Regarding neurodevelopment, both the mental and psychomotor developmental indices (MDI, PDI) demonstrated significant improvement (MDI, 88.69 ± 17.38 to 96.23 ± 21.05; PDI, 91.38 ± 16.31 to 100 ± 11.51; p < 0.05). Symmetric sagittal synostosis can be treated comprehensively through DO in combination with expansion and compression procedures. ICV and HC measurements were useful for designing surgical and postoperative distraction strategies. Achievement of mesocephalic CI and neurodevelopmental improvement validated morphological and functional effectiveness.

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Doenças relacionadas

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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.

  1. Risk of Reading Difficulties in School-age Children Treated for Non-syndromic Craniosynostosis.
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association· 2025· PMID 39639505mais citado
  2. Exploring Different Management Modalities of Nonsyndromic Craniosynostosis.
    Cureus· 2024· PMID 38910614mais citado
  3. Determining the fate of cranial sutures after surgical correction of&#xa0;non-syndromic craniosynostosis.
    Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery· 2017· PMID 28939204mais citado
  4. [Non syndromic craniosynostosis].
    Annales de chirurgie plastique et esthetique· 2016· PMID 27499256mais citado
  5. Expansion and compression distraction osteogenesis based on volumetric and neurodevelopmental analysis in sagittal craniosynostosis.
    Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery· 2015· PMID 26231567mais citado

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:620205(Orphanet)
  2. MONDO:0850083(MONDO)
  3. GARD:22480(GARD (NIH))
  4. Busca completa no PubMed(PubMed)

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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Compêndio · Raras BR

Craniossinostose sagital e bicoronal não-sindrômica

ORPHA:620205 · MONDO:0850083
Prevalência
<1 / 1 000 000
CID-10
Q75.0 · Craniossinostose
CID-11
Início
Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C5680391
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