# Craniossinostose

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

## Identificadores

- **ORPHA**: 1531 — https://www.orpha.net/en/disease/detail/1531
- **CID-10**: Q75.0
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Craniossinostose é definida como a fusão prematura de uma ou mais suturas cranianas, levando à distorção secundária da forma do crânio, resultando em deformidades do crânio com apresentação variável. A craniossinostose pode ocorrer isoladamente ou como parte de uma síndrome.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Autosomal dominant, Autosomal recessive, Not applicable, Unknown, X-linked recessive

## Sinais e sintomas (897 fenótipos HPO)

- **Órbitas rasas** — HPO: HP:0000586
- **Camptodactilia do dedo** — HPO: HP:0100490
- **Anormalidade inflamatória do olho** — HPO: HP:0100533
- **Mão pequena** — HPO: HP:0200055
- **Pele umbilical redundante** — HPO: HP:0034361
- **Anormalidade dos membros** — HPO: HP:0040064
- **Baqueteamento dos dedos** — HPO: HP:0100759
- **Habilidade atrasada de andar** — HPO: HP:0031936
- **Poroceratose** — HPO: HP:0200044
- **Deficiência visual cerebral** — HPO: HP:0100704
- **Fissura palpebral estreita** — HPO: HP:0045025
- **Sindactilia cutânea dos dedos 3-4 do pé** — HPO: HP:6000648
- **Sobrancelha esparsa** — HPO: HP:0045075
- **Fibrose pancreática** — HPO: HP:0100732
- **Prega infraorbital** — HPO: HP:0100876
- **Grandes lábios fundidos** — HPO: HP:0025486
- **Aumento da progesterona circulante** — HPO: HP:0031216
- **Hiperecogenicidade cortical renal** — HPO: HP:0033132
- **Clinodactilia do quarto dedo** — HPO: HP:0040025
- **Lagoftalmia** — HPO: HP:0030001
- **Higroma subdural** — HPO: HP:6001070
- **17-hidroxiprogesterona circulante elevada** — HPO: HP:0031213
- **Localização anormal do rim** — HPO: HP:0100542
- **Insônia** — HPO: HP:0100785
- **Colpocefalia** — HPO: HP:0030048
- **Tórax longo** — HPO: HP:0100818
- **Escafocefalia** — HPO: HP:0030799
- **Fusão vertebral C6/C7 cervical** — HPO: HP:6000807
- **Concentração diminuída de androstenediona circulante** — HPO: HP:0033812
- **Angiomatose visceral** — HPO: HP:0100761
- **Sopro cardíaco sistólico** — HPO: HP:0031664
- **Nível diminuído de deidroepiandrosterona circulante** — HPO: HP:0031214
- **Lipomielomeningocele** — HPO: HP:0025480
- **Polidactilia pré-axial** — HPO: HP:0100258
- **Falange em forma de anjo** — HPO: HP:0032078
- **Orelhas antevertidas** — HPO: HP:0040080
- **Óxido nítrico nasal diminuído** — HPO: HP:0033036
- **Polidactilia pós-axial** — HPO: HP:0100259
- **Anormalidade das cristas supraorbitais** — HPO: HP:0100538
- **Alimentação por sonda** — HPO: HP:0033454
- _...e mais 857 sintomas. Ver https://raras.org/doenca/craniossinostose._

## Genes associados (30)

- **ZIC1** — Zinc finger protein ZIC 1 [Disease-causing germline mutation(s) in]
  - Função: Acts as a transcriptional activator. Involved in neurogenesis. Plays important roles in the early stage of organogenesis of the CNS, as well as during dorsal spinal cord development and maturation of
- **WDR35** — WD repeat-containing protein 35 [Disease-causing germline mutation(s) in]
  - Função: As a component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in ciliogenesis and ciliary
- **RNU12** [Disease-causing germline mutation(s) in]
- **ZNF462** — Zinc finger protein 462 [Disease-causing germline mutation(s) in]
  - Função: Zinc finger nuclear factor involved in transcription by regulating chromatin structure and organization (PubMed:20219459, PubMed:21570965). Involved in the pluripotency and differentiation of embryoni
- **IFT43** — Intraflagellar transport protein 43 homolog [Disease-causing germline mutation(s) in]
  - Função: As a component of IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in ciliogenesis (PubMed:2840094
- **TCF12** — Transcription factor 12 [Disease-causing germline mutation(s) in]
  - Função: Transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3') (By similarity). May be involved in the functional net
- **IFT140** — Intraflagellar transport protein 140 homolog [Disease-causing germline mutation(s) in]
  - Função: Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs) (PubMed:20889716, PubMed:22503633). Plays a pivo
- **ERF** — ETS domain-containing transcription factor ERF [Disease-causing germline mutation(s) in]
  - Função: Potent transcriptional repressor that binds to the H1 element of the Ets2 promoter. May regulate other genes involved in cellular proliferation. Required for extraembryonic ectoderm differentiation, e
- **LRP5** — Low-density lipoprotein receptor-related protein 5 [Candidate gene tested in]
  - Função: Acts as a coreceptor with members of the frizzled family of seven-transmembrane spanning receptors to transduce signal by Wnt proteins (PubMed:11336703, PubMed:11448771, PubMed:11719191, PubMed:157785
- **IL11RA** — Interleukin-11 receptor subunit alpha [Disease-causing germline mutation(s) in]
  - Função: Receptor for interleukin-11 (IL11). The receptor systems for IL6, LIF, OSM, CNTF, IL11 and CT1 can utilize IL6ST for initiating signal transmission. The IL11/IL11RA/IL6ST complex may be involved in th
- **FREM1** — FRAS1-related extracellular matrix protein 1 [Disease-causing germline mutation(s) in]
  - Função: Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development
- **SKI** — Ski oncogene [Disease-causing germline mutation(s) in]
  - Função: May play a role in terminal differentiation of skeletal muscle cells but not in the determination of cells to the myogenic lineage. Functions as a repressor of TGF-beta signaling
- **FGFR2** — Fibroblast growth factor receptor 2 [Disease-causing germline mutation(s) in]
  - Função: Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis
- **FGFR1** — Fibroblast growth factor receptor 1 [Disease-causing germline mutation(s) in]
  - Função: Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation a
- **SMO** — Spermine oxidase [Disease-causing germline mutation(s) in]
  - Função: Flavoenzyme which catalyzes the oxidation of spermine to spermidine. Can also use N(1)-acetylspermine and spermidine as substrates, with different affinity depending on the isoform (isozyme) and on th

## Medicamentos em desenvolvimento (5)

- EPOPROSTENOL — Fase Phase 3 (Prostanoid IP receptor agonist)
- PRAVASTATIN — Fase Phase 3 (HMG-CoA reductase inhibitor)
- IRBESARTAN — Fase Phase 3 (Type-1 angiotensin II receptor antagonist)
- AMINOCAPROIC ACID — Fase Phase 2 (Tissue-type plasminogen activator inhibitor)
- RITUXIMAB — Fase Phase 2 (B-lymphocyte antigen CD20 binding agent)
- Fonte: https://platform.opentargets.org/disease/MONDO_0015469

## Ensaios clínicos ativos (4)

- **NCT06928727** [RECRUITING]: Ocular Characteristics in Patients With Craniosynostosis — https://clinicaltrials.gov/study/NCT06928727
- **NCT05911139** [ENROLLING_BY_INVITATION]: Influence of General Anesthesia on the Dynamic Changes in Brain Damage Markers During and After Craniosynostosis Operations in Infancy — https://clinicaltrials.gov/study/NCT05911139
- **NCT02229968** [ACTIVE_NOT_RECRUITING]: Efficacy of Amicar for Children Having Craniofacial Surgery — https://clinicaltrials.gov/study/NCT02229968
- **NCT03025763** [ACTIVE_NOT_RECRUITING]: Network Of Clinical Research Studies On Craniosynostosis, Skull Malformations With Premature Fusion Of Skull Bones — https://clinicaltrials.gov/study/NCT03025763
- **NCT02287805** [COMPLETED]: Qualitative and Quantitative Study Which Aims to Determine the Specifics of the Announcement for the Diagnosis of Patients With Craniosynostosis and Their Parents to Better Support Them in Their Care — https://clinicaltrials.gov/study/NCT02287805
- **NCT04721769** [TERMINATED]: Endoscopic Strip Craniectomy for Treatment of Sagittal Craniosynostosis — https://clinicaltrials.gov/study/NCT04721769
- **NCT04704284** [COMPLETED]: Comparing MRI to CT on Pediatric Craniosynostosis. — https://clinicaltrials.gov/study/NCT04704284
- **NCT03231085** [COMPLETED]: Comparison of the Rate of Preoperative Haemoglobin After Administration of Epoetin Alpha Associated With an Oral Medical Supplementation Versus Intravenous Before Surgery of Craniosynostosis at the Child — https://clinicaltrials.gov/study/NCT03231085
- **NCT06294626** [COMPLETED]: Examination of Neuromotor Development of Cases Diagnosed with Scaphocephaly — https://clinicaltrials.gov/study/NCT06294626
- **NCT01898650** [COMPLETED]: MRI for Non-invasive Evaluation of Brain Stress — https://clinicaltrials.gov/study/NCT01898650

## Doenças relacionadas (por similaridade fenotípica)

- [Síndrome Carpenter](https://raras.org/doenca/sindrome-carpenter) — ORPHA:65759 — 143 sintomas em comum
- [Síndrome de blefarofimose-perturbação do desenvolvimento intelectual](https://raras.org/doenca/sindrome-de-blefarofimose-perturbacao-do-desenvolvimento-intelectual) — ORPHA:293642 — 139 sintomas em comum
- [Síndrome orelha-rótula-baixa estatura](https://raras.org/doenca/sindrome-orelha-rotula-baixa-estatura) — ORPHA:2554 — 131 sintomas em comum
- [Síndrome Smith-Lemli-Opitz](https://raras.org/doenca/sindrome-smith-lemli-opitz) — ORPHA:818 — 129 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 — 128 sintomas em comum
- [Síndrome Meckel](https://raras.org/doenca/sindrome-meckel) — ORPHA:564 — 125 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 — 123 sintomas em comum
- [Síndrome de perturbação do desenvolvimento intelectual-apneia do sono obstrutiva-dismorfia ligeira AHDC1-relacionada](https://raras.org/doenca/sindrome-de-perturbacao-do-desenvolvimento-intelectual-apneia-do-sono-obstrutiva-dismorfia-ligeira-ahdc1-relacionada) — ORPHA:412069 — 123 sintomas em comum
- [Trissomia parcial do cromossomo 16](https://raras.org/doenca/trissomia-parcial-do-cromossomo-16) — ORPHA:262672 — 123 sintomas em comum
- [Monossomia parcial do cromossomo 19](https://raras.org/doenca/monossomia-parcial-do-cromossomo-19) — ORPHA:261841 — 122 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.

---

**Citação sugerida**: Raras.org — Craniossinostose. Disponível em: https://raras.org/doenca/craniossinostose
**Formato HTML**: https://raras.org/doenca/craniossinostose
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=1531