# Craniossinostose sindrômica

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

## Identificadores

- **ORPHA**: 139393 — https://www.orpha.net/en/disease/detail/139393
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

O fechamento precoce dos ossos da cabeça, que faz parte de uma síndrome maior.

## Epidemiologia e herança


## Sinais e sintomas (877 fenótipos HPO)

- **Acne** — HPO: HP:0001061
- **Hemangioma capilar de terço médio da face** — HPO: HP:0007452
- **Microcefalia congênita** — HPO: HP:0011451
- **Palato alto e estreito** — HPO: HP:0002705
- **Pigmentação mosqueada do epitélio pigmentar da retina** — HPO: HP:0007814
- **Clinodactilia** — HPO: HP:0030084
- **Sinostose unicoronal** — HPO: HP:0011315
- **Baqueteamento dos dedos** — HPO: HP:0100759
- **Cisto aracnoide** — HPO: HP:0100702
- **Linfoma** — HPO: HP:0002665
- **Hipoxemia** — HPO: HP:0012418
- **Baixa estatura grave** — HPO: HP:0003510
- **Sinostose carpal** — HPO: HP:0009702
- **Hipodesenvolvimento do antebraço** — HPO: HP:0009821
- **Ectrópio das pálpebras inferiores** — HPO: HP:0007651
- **Nível diminuído de cortisol circulante** — HPO: HP:0008163
- **Persistência de dentes decíduos** — HPO: HP:0006335
- **Escoliose torácica** — HPO: HP:0002943
- **Anormalidade da morfologia da epífise** — HPO: HP:0005930
- **Aplasia/Hipoplasia das falanges médias dos dedos do pé** — HPO: HP:0010194
- **Aplasia da falange média da mão** — HPO: HP:0010239
- **11-desoxicortisol sérico elevado** — HPO: HP:0025436
- **Gordura subcutânea mínima** — HPO: HP:0003717
- **Concentração elevada de transaminase hepática circulante** — HPO: HP:0002910
- **Cisto da fossa posterior** — HPO: HP:0007291
- **Falange em forma de anjo** — HPO: HP:0032078
- **Osso longo curto** — HPO: HP:0003026
- **Hemivértebras** — HPO: HP:0002937
- **Fontanela posterior grande** — HPO: HP:0004491
- **Columela pendente** — HPO: HP:0009765
- **Alimentação por sonda nasogástrica na infância** — HPO: HP:0011470
- **Metatarso curto** — HPO: HP:0010743
- **Encurvamento dos ossos longos** — HPO: HP:0006487
- **Morfologia anormal do sistema cardiovascular** — HPO: HP:0030680
- **Hiperecogenicidade cortical renal** — HPO: HP:0033132
- **Quarto metacarpo curto** — HPO: HP:0010044
- **Pele redundante no pescoço** — HPO: HP:0005989
- **Borda do vermelhão espessa** — HPO: HP:0012471
- **Mordida aberta** — HPO: HP:0010807
- **Padrão anormal do cabelo** — HPO: HP:0010720
- _...e mais 837 sintomas. Ver https://raras.org/doenca/craniossinostose-sindromica._

## Genes associados (27)

- **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
- **POR** — NADPH--cytochrome P450 reductase [Disease-causing germline mutation(s) in]
  - Função: This enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes. It can also provide electron transfer to heme oxygenase and cytochrome B5
- **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
- **MEGF8** — Multiple epidermal growth factor-like domains protein 8 [Disease-causing germline mutation(s) in]
  - Função: Acts as a negative regulator of hedgehog signaling
- **IFT52** — Intraflagellar transport protein 52 homolog [Disease-causing germline mutation(s) in]
  - Função: Involved in ciliogenesis as part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cil
- **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
- **MSX2** — Homeobox protein MSX-2 [Disease-causing germline mutation(s) in]
  - Função: Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and antagonizes the stimulatory effect of DLX5 on ALPL expression during osteoblast differentiation. Proba
- **FBN1** — Fibrillin-1 [Candidate gene tested in]
  - Função: Structural component of the 10-12 nm diameter microfibrils of the extracellular matrix, which conveys both structural and regulatory properties to load-bearing connective tissues (PubMed:15062093, Pub
- **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
- **CYP26B1** — Cytochrome P450 26B1 [Disease-causing germline mutation(s) in]
  - Função: A cytochrome P450 monooxygenase involved in the metabolism of retinoates (RAs), the active metabolites of vitamin A, and critical signaling molecules in animals (PubMed:10823918, PubMed:22020119). RAs
- **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
- **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
- **RAB23** — Ras-related protein Rab-23 [Disease-causing germline mutation(s) in]
  - Função: The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form a
- **CD96** — T-cell surface protein tactile [Disease-causing germline mutation(s) in]
  - Função: May be involved in adhesive interactions of activated T and NK cells during the late phase of the immune response. Promotes NK cell-target adhesion by interacting with PVR present on target cells. May
- **RNU12** [Disease-causing germline mutation(s) in]

## Medicamentos em desenvolvimento (4)

- 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)
- RITUXIMAB — Fase Phase 2 (B-lymphocyte antigen CD20 binding agent)
- Fonte: https://platform.opentargets.org/disease/MONDO_0015338

## Ensaios clínicos ativos (1)

- **NCT04721769** [TERMINATED]: Endoscopic Strip Craniectomy for Treatment of Sagittal Craniosynostosis — https://clinicaltrials.gov/study/NCT04721769

## 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 — 137 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 — 128 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 — 126 sintomas em comum
- [Síndrome Meckel](https://raras.org/doenca/sindrome-meckel) — ORPHA:564 — 124 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 — 122 sintomas em comum
- [Trissomia parcial do cromossomo 16](https://raras.org/doenca/trissomia-parcial-do-cromossomo-16) — ORPHA:262672 — 121 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 — 121 sintomas em comum
- [Monossomia parcial do cromossomo 19](https://raras.org/doenca/monossomia-parcial-do-cromossomo-19) — ORPHA:261841 — 121 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 — Craniossinostose sindrômica. Disponível em: https://raras.org/doenca/craniossinostose-sindromica
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