Raras
Buscar doenças, sintomas, genes...
Fenda nasal
ORPHA:141242CID-10 · Q18.8CID-11 · LA51DOENÇA RARA

Fissura lábio-palatina é um grupo de condições em que se inclui a fissura labial, a fenda palatina e ambas. Uma fenda labial representa uma fenda no lábio superior que pode se prolongar até ao nariz. A fenda pode situar-se em um dos lados, em ambos os lados ou ao centro. Uma fenda palatina ocorre quando o céu da boca apresenta uma fenda que se prolonga até à cavidade nasal. Estas malformações podem causar problemas na alimentação, na fala e na audição e resultam em infeções do ouvido frequentes. Em menos de metade dos casos a condição está associada a outras condições.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A fenda nasal paramediana é uma anomalia congênita rara caracterizada por uma fenda unilateral ou bilateral no nariz, geralmente localizada ao lado da linha média. Pode variar em gravidade, afetando a cartilagem, osso e tecidos moles do nariz, impactando a estética e a função respiratória.

🏥
SUS: Cobertura mínimaScore: 20%
Triagem neonatal (Fase 5)CID-10: Q18.8
🇧🇷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
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

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 pesquisa1desde 2026
Últimos 10 anos8publicações
Pico20252 papers
Linha do tempo
2026Hoje · 2026
Publicações por ano (últimos 10 anos)

Triagem neonatal (Teste do Pezinho)

👶
Teste: qPCR para deleção de SMN1 em sangue seco
Fase 5 do PNTNpending
Incidência no Brasil: 1:10.000

A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Fenda nasal

🗺️

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.

🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Infected type 1 congenital upper lip sinus in 8 years child: A rare case report.

Radiology case reports2025 Sep

A congenital lip sinus is a rare condition, also known as a lip pit or dimples. The lower lip sinus is more frequently observed with a prevalence of approximately 0.001% in general populations, while the upper lip sinus is even rarer with not more than 70 documented cases in English medical literature. These sinuses can be located at various positions on the lip, including midline, paramedian, or lateral, on either the upper or lower lip. In some cases, lip pits are associated with other congenital anomalies such as cleft lip or cleft palate or both. In this particular case, an 8-year-old girl from Nepal presented with pain, swelling, and a yellowish discharge from a pit located in the midline of her upper lip, just below the columella of the nose at the philtrum. She was diagnosed with a Type 1 congenital upper lip sinus. Flap-based tissue transfer, commonly involving skin or mucosa, is a key method in reconstructive surgery for achieving wound closure. Flaps are especially useful when closure through secondary intention, primary linear closure, or skin grafting is either not feasible or would result in suboptimal functional or aesthetic outcomes. Flaps are classified primarily by their blood supply. Axial flaps derive their blood supply from a specific, named artery running longitudinally through both the flap and its pedicle. In contrast, random pattern flaps depend on the dermal and subcutaneous vascular plexus for perfusion and venous drainage. Flaps may also be grouped based on the relationship between the harvest site and the defect. Free flaps involve harvesting tissue from a distant site, transferring it to the wound, and revascularizing it through microsurgical anastomoses. Regional flaps move nonadjacent tissue near the defect into the wound while maintaining a vascular pedicle for perfusion. Local flaps transfer tissue adjacent to the defect to repair the wound. Generally, free and regional flaps are supplied by axial blood vessels, while local flaps are typically perfused through random pattern blood vessels. Local flaps are further subdivided based on their primary movement. Advancement and rotation flaps, also known as sliding flaps, recruit adjacent tissue and move in a linear or arced motion, respectively, to fill the primary defect. Transposition and interpolation flaps, also referred to as lifting flaps, involve incising and shifting noncontiguous donor tissue to replace intact tissue, thereby closing a wound. Common transposition flaps in cutaneous surgery include bilobed, rhombic, nasolabial (melolabial) flaps, and Z-plasties. These flaps are particularly useful for defects near the medial and lateral canthi, cheeks, and the lateral upper 2/3 of the nose, but they also have a well-defined role in lateral forehead, temple, perioral, inferior chin, and dorsal hand defects. Interpolation flaps, such as the paramedian forehead flap, involve transferring nonadjacent tissue across or underneath intact tissue that remains undisturbed by the procedure. Due to this topology, interpolation flaps are usually more accurately classified as regional flaps. Ultimately, the exact nomenclature of a local flap is less important than its topology and physiology. Additionally, many of the same principles applied to the design of local flaps may also be applied to larger, regional flaps with axial blood supplies. Examples include propeller transposition flaps in the extremities, omental transposition flaps in the abdomen, and muscular transposition flaps in the pelvis and breast. Many application-specific, named transposition flaps exist, such as the Estlander lip-switch flap for lip reconstruction, the Furlow double-opposing Z-plasty for cleft palate closure, and the Fricke lid-switch flap for eyelid repair. This article will focus on the more generally applicable types of local transposition flaps as they pertain to facial surgery.

#2

Anthropometric Change After Primary Repair of Rare Craniofacial Clefts.

The Journal of craniofacial surgery2025

This study aimed to investigate the clinical characteristics according to Tessier classification and evaluate the surgical outcomes in patients with rare craniofacial cleft (RCC) primary repair. A retrospective study on 30 patients with RCC was conducted at the Department of Craniofacial and Plastic Surgery of the Vietnam National Hospital of Pediatrics. Rare craniofacial cleft was recorded according to Tessier's classification and was analyzed for gender, affected side, clinical characteristics, and associated abnormalities. Primary surgical correction was based on the concept of aesthetic units with multiple Z-plasty. Preoperative deformities and postoperative outcomes were evaluated with anthropometric measurements using the Versnel scoring system. The most common type was Tessier 7 cleft (T7), followed by T0. There was no difference between the frequency of males and females. Patients with unilateral cleft accounted for a larger proportion than bilateral cleft (76.5% versus 23.5%; P = 0.029 <0.05). The median and paramedian cleft groups (T0, T1, T30) affected orbit 22.2%-nose 77.8%-mouth 44.4%. The oblique clefts (T3, T4, T5, T11) affected orbit 100%-nose 50%-mouth 50%. The transverse cleft group (T6, T7, T8) affected mouth 94.1%-ear 29.4%. Rare craniofacial cleft may present alone or in a syndrome (Treacher Collin, Goldenhar, Hemifacial atrophy), or in combination with other abnormalities. Repairing RCC with aesthetic units with multiple Z-plasty has improved facial balance and restored key landmarks with acceptable scar position. The Versnel scoring system can serve as an objective instrument to measure the surgical outcomes of RCC repair and can be used to evaluate the influence of growth.

#3

A Rare Presentation of Synchronous Thyroglossal Cyst and Branchial Cyst in an Adult Male Patient.

Cureus2024 Nov

The most common congenital cervical masses are thyroglossal cysts followed by branchial cleft anomalies. However, their synchronous presentation is uncommon. A man in his early thirties visited our ear, nose, and throat (ENT) outpatient department (OPD) with complaints of a three-month history of right-side neck swelling. On examination, a 6 cm x 4 cm non-tender, oval-shaped cystic swelling was noted towards the right side of the neck, extending obliquely to the midline. Incidentally, another swelling measuring 2 cm x 1 cm towards the left paramedian of the neck was well-defined, non-tender, cystic in consistency, and moved with deglutition and protrusion of the tongue. Investigations such as fine needle aspiration cytology, ultrasonography, and MRI neck plain and contrast confirmed the diagnosis of a right-sided type 2 branchial cyst with a coexisting thyroglossal cyst. Right branchial cyst excision with Sistrunk procedure was done under general anesthesia. This rare occurrence requires the surgeon to know the embryological basis of such cervical anomalies. We herein report a case of unusual co-occurrence of thyroglossal cyst and branchial cyst in an adult male patient.

#4

A Clinical Report of the Complete Nasal Agenesis: Reconstruction of Congenital Arhinia and Review of the Literature.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association2023 Jun

Congenital absence of the nose or arhinia is an exceptionally rare craniofacial malformation, and the pathophysiology of the arhinia is still unknown. Most arhinia patients can have difficulties with breathing and feeding due to the absence of the nose, nasal cavities, and associated problems. A 38-day-old female patient was referred to our clinic with arhinia. Physical examination revealed the complete agenesis of nasal structures as the nasal bones and vestibulum nasi. The region of the absent nose was flat and firm at palpation. Congenital arhinia may occur with other associated malformations such as ocular, ear, palate, and gonadal. Therefore, it is recommended to evaluate computed tomography/magnetic resonance imaging in the postnatal period. Additionally, a radiological evaluation will help nasal reconstruction by documenting changes in nasal and maxillary anatomy over time. Due to the limited number of arhinia cases presented, the surgical management of this condition has not been standardized. We presented the pyramid-shaped cartilage grafts for the nasal framework and an expanded paramedian forehead flap for the skin coverage for reconstruction of arhinia.

#5

Secondary Treatment of Cleft Lip Correction Sequelae With Percutaneous Needleotomy, Autologous Fat Grafting, and Local Flaps: An Integrated Approach.

The Journal of craniofacial surgery2021

Cleft lip and/or palate (CL/P) is the most common congenital craniofacial malformation. The severity of the anatomic deformity is highly variable and different techniques can be employed depending on whether the defect is unilateral or bilateral, complete or incomplete. Patients usually undergo multiple steps of reconstruction throughout childhood and adolescence and, for this reason, secondary deformities of the nasolabial region of the midface may ensue. Considering our experience in the treatment of scars, we opted to correct the cleft lip surgery sequelae not only with local flaps/scar revisions, but we decided to add the use of the autologous fat grafting (AFG) to induce a regenerative effect in these young patients. In this study we present the results obtained from a series of 12 consecutive Caucasian patients aged from 23 to 44 years with widened paramedian lip scars secondary to cleft lip reconstruction surgery, treated with a combination of needle-induced lysis of the scar tissue and AFG from January 2013 to December 2018. After the procedure we observed an overall improvement in the quality of the scar tissue, in the function of mimic features, in the symmetry and cosmetics of the lower third of the nose. Patients' satisfaction was excellent. Results were long lasting and remained virtually unchanged after 1 year of follow-up. Scar release by needle, AFG and local flaps are excellent tools for the treatment of cleft lip correction sequelae, but the combination of these surgical techniques can lead to even better results.Level of Evidence: Level V.

Publicações recentes

Ver todas no PubMed

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Fenda nasal.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Fenda nasal

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ainda não achamos doenças com sintomas parecidos o suficiente.

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. Infected type 1 congenital upper lip sinus in 8 years child: A rare case report.
    Radiology case reports· 2025· PMID 40620542mais citado
  2. Anthropometric Change After Primary Repair of Rare Craniofacial Clefts.
    The Journal of craniofacial surgery· 2025· PMID 40067322mais citado
  3. A Rare Presentation of Synchronous Thyroglossal Cyst and Branchial Cyst in an Adult Male Patient.
    Cureus· 2024· PMID 39734967mais citado
  4. A Clinical Report of the Complete Nasal Agenesis: Reconstruction of Congenital Arhinia and Review of the Literature.
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association· 2023· PMID 35068218mais citado
  5. Secondary Treatment of Cleft Lip Correction Sequelae With Percutaneous Needleotomy, Autologous Fat Grafting, and Local Flaps: An Integrated Approach.
    The Journal of craniofacial surgery· 2021· PMID 33705000mais citado
  6. Nasolabial Flap Variations and Alternatives in Nasal Ala Reconstruction.
    Plast Reconstr Surg· 2026· PMID 40875532recente
  7. Combination of Paramedian Dorsal Component Excision and Low Septal Strip Septoplasty: A Hybrid Rhinoplasty Technique with Endonasal Approach.
    Aesthetic Plast Surg· 2026· PMID 40855022recente
  8. Anatomical Variations in Keystone Area in Nepalese Noses: A Descriptive Cross-sectional Study.
    JNMA J Nepal Med Assoc· 2024· PMID 40655888recente
  9. Endoscopic strategies for giant V2 schwannoma: A step-by-step guide to the combined endonasal and pre lacrimal approaches.
    J Clin Neurosci· 2025· PMID 39581139recente
  10. A Case of Nasoseptal Flap Reconstruction for Refractory Medial Canthal Fistula.
    Ophthalmic Plast Reconstr Surg· 2024· PMID 39197178recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:141242(Orphanet)
  2. MONDO:0015414(MONDO)
  3. GARD:16973(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q56013719(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.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Fenda nasal
Compêndio · Raras BR

Fenda nasal

ORPHA:141242 · MONDO:0015414
🇧🇷 Brasil SUS
Triagem
qPCR para deleção de SMN1 em sangue seco
PNTN
Fase 5
Incidência BR
1:10.000
Geral
CID-10
Q18.8 · Outras malformações congênitas especificadas da face e do pescoço
CID-11
Início
Antenatal, Neonatal
MedGen
UMLS
C0221363
Wikidata
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades