# Fenda labial/palatina

> Página oficial: https://raras.org/doenca/fenda-labialpalatina
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 199306 — https://www.orpha.net/en/disease/detail/199306
- **CID-10**: Q37.0
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

A fenda labiopalatina é uma embriopatia do tipo fissura estendendo-se através do lábio superior, base nasal, rebordo alveolar e palato duro e mole.

## Epidemiologia e herança

- **Prevalência**: 1-5 / 10 000
- **Padrão de herança**: Multigenic/multifactorial

## Sinais e sintomas (43 fenótipos HPO)

- **Nariz bulboso** — HPO: HP:0000414
- **Fenda do lábio superior** — HPO: HP:0000204
- **Fenda labial** — HPO: HP:0410030
- **Fissura labial unilateral** — HPO: HP:0100333
- **Hérnia inguinal** — HPO: HP:0000023
- **Orelhas de implantação baixa** — HPO: HP:0000369
- **Insuficiência velofaríngea** — HPO: HP:0000220 (Frequente (79-30%))
- **Fenda palatina bilateral** — HPO: HP:0100337 (Ocasional (29-5%))
- **Fissura palatina** — HPO: HP:0000175 (Frequente (79-30%))
- **Disfagia orofaríngea** — HPO: HP:0200136 (Frequente (79-30%))
- **Má oclusão dentária** — HPO: HP:0000689 (Ocasional (29-5%))
- **Fenda orofacial** — HPO: HP:0000202 (Frequente (79-30%))
- **Incisivos laterais superiores em forma de pino** — HPO: HP:0006342 (Ocasional (29-5%))
- **Desnutrição** — HPO: HP:0004395 (Ocasional (29-5%))
- **Sucção pobre** — HPO: HP:0002033 (Frequente (79-30%))
- **Número anormal de dentes permanentes** — HPO: HP:0011044 (Ocasional (29-5%))
- **Fissura palatina unilateral** — HPO: HP:0100334 (Frequente (79-30%))
- **Otite média recorrente** — HPO: HP:0000403 (Frequente (79-30%))
- **Anormalidade da erupção dentária** — HPO: HP:0006292 (Muito frequente (99-80%))
- **Fístula palatina** — HPO: HP:0010294 (Ocasional (29-5%))
- **Fala hipernasal** — HPO: HP:0001611 (Ocasional (29-5%))
- **Agenesia de incisivo lateral** — HPO: HP:0200153 (Ocasional (29-5%))
- **Deficiência auditiva condutiva** — HPO: HP:0000405 (Ocasional (29-5%))
- **Dificuldades de articulação da fala** — HPO: HP:0009088 (Frequente (79-30%))
- **Hipoplasia da maxila** — HPO: HP:0000327 (Raro (<5%))
- **Atraso no desenvolvimento da fala e da linguagem** — HPO: HP:0000750 (Frequente (79-30%))
- **Dificuldades alimentares na infância** — HPO: HP:0008872 (Frequente (79-30%))
- **Orelha proeminente** — HPO: HP:0000411
- **Fenda labial bilateral** — HPO: HP:0100336
- **Implantação alta da linha anterior do cabelo** — HPO: HP:0009890
- **Ectrópio das pálpebras inferiores** — HPO: HP:0007651
- **Sobrancelha esparsa** — HPO: HP:0045075
- **Hipertelorismo** — HPO: HP:0000316
- **Epicanto** — HPO: HP:0000286
- **Distiquíase** — HPO: HP:0009743
- **Fissura palpebral ascendente** — HPO: HP:0000582
- **Cílios esparsos** — HPO: HP:0000653
- **Lagoftalmia** — HPO: HP:0030001
- **Retrusão médio-facial** — HPO: HP:0011800
- **Euriblefaron** — HPO: HP:0012905
- _...e mais 3 sintomas. Ver https://raras.org/doenca/fenda-labialpalatina._

## Genes associados (14)

- **DLX4** — Homeobox protein DLX-4 [Disease-causing germline mutation(s) in]
  - Função: May play a role in determining the production of hemoglobin S. May act as a repressor. During embryonic development, plays a role in palatogenesis
- **SUMO1** — Small ubiquitin-related modifier 1 [Disease-causing germline mutation(s) in]
  - Função: Ubiquitin-like protein that can be covalently attached to proteins as a monomer or a lysine-linked polymer. Covalent attachment via an isopeptide bond to its substrates requires prior activation by th
- **PDGFRA** — Platelet-derived growth factor receptor alpha [Major susceptibility factor in]
  - Função: Tyrosine-protein kinase that acts as a cell-surface receptor for PDGFA, PDGFB and PDGFC and plays an essential role in the regulation of embryonic development, cell proliferation, survival and chemota
- **DLG1** — Disks large homolog 1 [Major susceptibility factor in]
  - Função: Essential multidomain scaffolding protein required for normal development (By similarity). Recruits channels, receptors and signaling molecules to discrete plasma membrane domains in polarized cells.
- **ARHGAP29** — Rho GTPase-activating protein 29 [Major susceptibility factor in]
  - Função: GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has strong activity toward RHOA, and weaker activity toward RAC1 and CDC42. May act as a specific effector
- **MSX1** — Homeobox protein MSX-1 [Major susceptibility factor in]
  - Função: Acts as a transcriptional repressor (By similarity). Capable of transcription autoinactivation (By similarity). Binds to the consensus sequence 5'-C/GTAAT-3' in downstream activin regulatory elements
- **RIC1** — Guanine nucleotide exchange factor subunit RIC1 [Major susceptibility factor in]
  - Função: The RIC1-RGP1 complex acts as a guanine nucleotide exchange factor (GEF), which activates RAB6A by exchanging bound GDP for free GTP, and may thereby be required for efficient fusion of endosome-deriv
- **ARHGEF38** — Rho guanine nucleotide exchange factor 38 [Major susceptibility factor in]
  - Função: May act as a guanine-nucleotide releasing factor
- **BMP4** — Bone morphogenetic protein 4 [Major susceptibility factor in]
  - Função: Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including neurogenesis, vascular development, angiogenesis and osteogenesis (PubMed:31363885). Act
- **COBLL1** — Cordon-bleu protein-like 1 [Major susceptibility factor in]
- **TP63** — Tumor protein 63 [Major susceptibility factor in]
  - Função: Acts as a sequence specific DNA binding transcriptional activator or repressor. The isoforms contain a varying set of transactivation and auto-regulating transactivation inhibiting domains thus showin
- **CDH1** — Cadherin-1 [Major susceptibility factor in]
  - Função: Cadherins are calcium-dependent cell adhesion proteins (PubMed:11976333). They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the
- **NECTIN1** — Nectin-1 [Major susceptibility factor in]
  - Função: Cell adhesion molecule that promotes cell-cell contacts and plays important roles in the development of the nervous system (PubMed:21325282). Acts by forming homophilic or heterophilic trans-dimers (P
- **IRF6** — Interferon regulatory factor 6 [Major susceptibility factor in]
  - Função: Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in

## Medicamentos em desenvolvimento (2)

- BUPIVACAINE — Fase Phase 3 (Sodium channel protein type IV alpha subunit blocker)
- EPINEPHRINE — Fase Phase 3 (Adrenergic receptor agonist)
- Fonte: https://platform.opentargets.org/disease/MONDO_0016044

## Ensaios clínicos ativos (30)

- **NCT04771156** [RECRUITING]: Ketorolac in Palatoplasty — https://clinicaltrials.gov/study/NCT04771156
- **NCT04234971** [RECRUITING]: Cost Effectiveness in Alveolar Bone Grafting in Patients With Cleft Lip and Palate — https://clinicaltrials.gov/study/NCT04234971
- **NCT07340008** [RECRUITING]: Analgosedation With Ketamine, Nalbuphine, or Dexmedetomidine for Suture Removal in Children After Cleft Surgery — https://clinicaltrials.gov/study/NCT07340008
- **NCT04422847** [RECRUITING]: Use of Computer Aided Design and 3D Printing for Anesthesiology Management in a Pediatric Patient With Cleft Facial Defect — https://clinicaltrials.gov/study/NCT04422847
- **NCT06683560** [RECRUITING]: Printed Aligners for Nasoalveolar Molding Treatment — https://clinicaltrials.gov/study/NCT06683560
- **NCT05467527** [RECRUITING]: PACT Programme for Parents of Children With SHCN — https://clinicaltrials.gov/study/NCT05467527
- **NCT07048418** [RECRUITING]: Aesthetic and Functional Self-Assessment Following Rhinoseptoplasty in Patients With Unilateral Cleft Lip and Palate — https://clinicaltrials.gov/study/NCT07048418
- **NCT06994754** [RECRUITING]: Evaluation of Maxillary Expansion Using Clear Aligners' Therapy in Patients With Cleft Lip and Palate at the Mixed Dentition Stage — https://clinicaltrials.gov/study/NCT06994754
- **NCT06970158** [RECRUITING]: Clinical Application of Artificial Intelligence in New Borns With Cleft Lip and Palate — https://clinicaltrials.gov/study/NCT06970158
- **NCT06905678** [RECRUITING]: The Financial and Emotional Impact of Cleft Palate — https://clinicaltrials.gov/study/NCT06905678

## Doenças relacionadas (por similaridade fenotípica)

- [Fenda palatina](https://raras.org/doenca/fenda-palatina) — ORPHA:2014 — 15 sintomas em comum
- [Síndrome de blefarofimose-perturbação do desenvolvimento intelectual](https://raras.org/doenca/sindrome-de-blefarofimose-perturbacao-do-desenvolvimento-intelectual) — ORPHA:293642 — 14 sintomas em comum
- [Trissomia parcial do cromossomo 16](https://raras.org/doenca/trissomia-parcial-do-cromossomo-16) — ORPHA:262672 — 14 sintomas em comum
- [NÃO RARA NA EUROPA: Espectro fenotípico de síndrome FG](https://raras.org/doenca/nao-rara-na-europa-espectro-fenotipico-de-sindrome-fg) — ORPHA:323 — 14 sintomas em comum
- [Trissomia parcial do braço curto do cromossomo 16](https://raras.org/doenca/trissomia-parcial-do-braco-curto-do-cromossomo-16) — ORPHA:262794 — 14 sintomas em comum
- [Síndrome Aarskog-Scott](https://raras.org/doenca/sindrome-aarskog-scott) — ORPHA:915 — 13 sintomas em comum
- [Síndrome Peters-plus](https://raras.org/doenca/sindrome-peters-plus) — ORPHA:709 — 13 sintomas em comum
- [Holoprosencefalia alobar](https://raras.org/doenca/holoprosencefalia-alobar) — ORPHA:93925 — 13 sintomas em comum
- [Monossomia parcial do braço longo do cromossomo 1](https://raras.org/doenca/monossomia-parcial-do-braco-longo-do-cromossomo-1) — ORPHA:262001 — 13 sintomas em comum
- [Holoprosencefalia lobar](https://raras.org/doenca/holoprosencefalia-lobar) — ORPHA:93924 — 13 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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**Citação sugerida**: Raras.org — Fenda labial/palatina. Disponível em: https://raras.org/doenca/fenda-labialpalatina
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