# Síndrome Cornelia de Lange

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

## Identificadores

- **ORPHA**: 199 — https://www.orpha.net/en/disease/detail/199
- **CID-10**: Q87.1
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Uma síndrome rara de anomalias congénitas múltiplas caracterizada por dismorfismo facial, hipertricose, deficiência intelectual leve a profunda, restrição de crescimento intrauterino (RCIU) e/ou restrição de crescimento pós-natal, dificuldades de alimentação, anomalias nas mãos e pés (variando de anomalias de redução graves nos membros, oligodactilia, a braquimetacarpia do primeiro metacarpo). As malformações viscerais variáveis ​​podem estar presentes.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 1 000 000
- **Padrão de herança**: Autosomal dominant, Not applicable, X-linked recessive

## Sinais e sintomas (238 fenótipos HPO)

- **Insuficiência renal** — HPO: HP:0000083 (Ocasional (29-5%))
- **Comportamento alegre** — HPO: HP:0040082
- **Tamanho testicular diminuído** — HPO: HP:0008734
- **Hipotelorismo** — HPO: HP:0000601
- **Fenda submucosa do palato duro** — HPO: HP:0000176
- **Holoprosencefalia lobar** — HPO: HP:0006870
- **Coxa vara** — HPO: HP:0002812
- **Colo femoral curto** — HPO: HP:0100864
- **Assimetria craniana** — HPO: HP:0002678
- **Fissura vertebral** — HPO: HP:0008428
- **Morfologia renal anormal** — HPO: HP:0012210
- **Quarto metacarpo curto** — HPO: HP:0010044
- **Queixo curto** — HPO: HP:0000331
- **Exostoses** — HPO: HP:0100777
- **Agenesia do esmalte** — HPO: HP:0033785
- **Anquilose do estribo** — HPO: HP:0000381
- **Insuficiência velofaríngea** — HPO: HP:0000220
- **Plagiocefalia** — HPO: HP:0001357
- **Quinto dedo curto** — HPO: HP:0009237
- **Face plana** — HPO: HP:0012368
- **Nevo flammeus** — HPO: HP:0001052
- **Ptose bilateral** — HPO: HP:0001488
- **Fissura palpebral ascendente** — HPO: HP:0000582
- **Fechamento atrasado da fontanela anterior** — HPO: HP:0001476
- **Microdontia** — HPO: HP:0000691
- **Ponte nasal ampla** — HPO: HP:0000431
- **Quinto metacarpo curto** — HPO: HP:0010047
- **Epicanto** — HPO: HP:0000286
- **Microcefalia congênita** — HPO: HP:0011451
- **Cabelo espesso** — HPO: HP:0100874
- **Bossas frontais** — HPO: HP:0002007
- **Sobrancelha estendida lateralmente** — HPO: HP:0011230
- **Hidroureter** — HPO: HP:0000072
- **Assimetria facial** — HPO: HP:0000324
- **Microcefalia secundária** — HPO: HP:0005484
- **Nariz bulboso** — HPO: HP:0000414
- **Dermatochalasis** — HPO: HP:0010750
- **Pálpebra encapuzada** — HPO: HP:0030820
- **Pectus carinatum** — HPO: HP:0000768
- **Telecanto** — HPO: HP:0000506
- _...e mais 198 sintomas. Ver https://raras.org/doenca/sindrome-cornelia-de-lange._

## Genes associados (6)

- **NIPBL** — Nipped-B-like protein [Disease-causing germline mutation(s) in]
  - Função: Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with MAU2/SCC4 which mediates the loading of the cohesin
- **BRD4** — Bromodomain-containing protein 4 [Disease-causing germline mutation(s) in]
  - Função: Chromatin reader protein that recognizes and binds acetylated histones and plays a key role in transmission of epigenetic memory across cell divisions and transcription regulation (PubMed:20871596, Pu
- **HDAC8** — Histone deacetylase 8 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Histone deacetylase that catalyzes the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4) (PubMed:10748112, PubMed:10922473, PubMed:10926844, PubMed:147
- **SMC3** — Structural maintenance of chromosomes protein 3 [Disease-causing germline mutation(s) in]
  - Função: Central component of cohesin, a complex required for chromosome cohesion during the cell cycle. The cohesin complex may form a large proteinaceous ring within which sister chromatids can be trapped. A
- **RAD21** — Double-strand-break repair protein rad21 homolog [Disease-causing germline mutation(s) in]
  - Função: As a member of the cohesin complex, involved in sister chromatid cohesion from the time of DNA replication in S phase to their segregation in mitosis, a function that is essential for proper chromosom
- **SMC1A** — Structural maintenance of chromosomes protein 1A [Disease-causing germline mutation(s) in]
  - Função: Involved in chromosome cohesion during cell cycle and in DNA repair. Central component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication.

## Ensaios clínicos ativos (6)

- **NCT06740162** [RECRUITING]: Physical Activity and Community EmPOWERment Project — https://clinicaltrials.gov/study/NCT06740162
- **NCT05829668** [RECRUITING]: Behavioral Assessment and Treatment of Problem Behavior in Children With Cornelia de Lange Syndrome — https://clinicaltrials.gov/study/NCT05829668
- **NCT01793168** [RECRUITING]: Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford — https://clinicaltrials.gov/study/NCT01793168
- **NCT06789783** [RECRUITING]: Cornelia De Lange Syndrome: Assessing Positive Effects of Lithium Treatment — https://clinicaltrials.gov/study/NCT06789783
- **NCT04463316** [RECRUITING]: GROWing Up With Rare GENEtic Syndromes — https://clinicaltrials.gov/study/NCT04463316
- **NCT04381897** [NOT_YET_RECRUITING]: Use of N-Acetylcysteine in the Treatment of Repetitive and Self-Injurious Behaviors in Cornelia de Lange Syndrome — https://clinicaltrials.gov/study/NCT04381897
- **NCT03113877** [TERMINATED]: Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS) — https://clinicaltrials.gov/study/NCT03113877

## Doenças relacionadas (por similaridade fenotípica)

- [Monossomia parcial do braço curto do cromossomo 1](https://raras.org/doenca/monossomia-parcial-do-braco-curto-do-cromossomo-1) — ORPHA:261857 — 85 sintomas em comum
- [Monossomia parcial do cromossomo 3](https://raras.org/doenca/monossomia-parcial-do-cromossomo-3) — ORPHA:261776 — 82 sintomas em comum
- [Síndrome de blefarofimose-perturbação do desenvolvimento intelectual](https://raras.org/doenca/sindrome-de-blefarofimose-perturbacao-do-desenvolvimento-intelectual) — ORPHA:293642 — 80 sintomas em comum
- [Trissomia parcial do cromossomo 16](https://raras.org/doenca/trissomia-parcial-do-cromossomo-16) — ORPHA:262672 — 78 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 — 78 sintomas em comum
- [Monossomia parcial do cromossomo 19](https://raras.org/doenca/monossomia-parcial-do-cromossomo-19) — ORPHA:261841 — 75 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 — 74 sintomas em comum
- [Síndrome de deleção 1p36](https://raras.org/doenca/sindrome-de-delecao-1p36) — ORPHA:1606 — 72 sintomas em comum
- [Síndrome Smith-Lemli-Opitz](https://raras.org/doenca/sindrome-smith-lemli-opitz) — ORPHA:818 — 72 sintomas em comum
- [Deleção parcial do braço longo do cromossomo 10](https://raras.org/doenca/delecao-parcial-do-braco-longo-do-cromossomo-10) — ORPHA:262083 — 72 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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