# Microcefalia isolada congênita

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

## Identificadores

- **ORPHA**: 2512 — https://www.orpha.net/en/disease/detail/2512
- **CID-10**: Q02
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

A Microcefalia Primária Autossômica Recessiva (MCPH) é uma condição genética rara. Ela é herdada de forma autossômica recessiva (o que significa que a pessoa precisa receber o gene alterado de ambos os pais) e pode ter diversas causas genéticas. A MCPH afeta o desenvolvimento do cérebro, especificamente a formação das células nervosas. Caracteriza-se por um tamanho de cabeça menor que o normal desde o nascimento, sem grandes defeitos visíveis na estrutura geral do cérebro, e por dificuldades de aprendizado em graus variados.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Autosomal recessive

## Sinais e sintomas (187 fenótipos HPO)

- **Anormalidade no EEG** — HPO: HP:0002353
- **Columela pendente** — HPO: HP:0009765
- **Sinofris** — HPO: HP:0000664
- **Morfologia cerebral anormal** — HPO: HP:0002060
- **Morfologia anormal do cerebelo** — HPO: HP:0001317
- **Atrofia cerebral** — HPO: HP:0012444
- **Morfologia neuronal anormal** — HPO: HP:0012757
- **Anormalidade do córtex cerebral** — HPO: HP:0002538
- **Glaucoma** — HPO: HP:0000501
- **Ptose** — HPO: HP:0000508
- **Telecanto** — HPO: HP:0000506
- **Boca aberta** — HPO: HP:0000194
- **Talipes equinovarus bilateral** — HPO: HP:0001776
- **Microcefalia progressiva** — HPO: HP:0000253
- **Baixa estatura grave** — HPO: HP:0003510
- **Sialorreia** — HPO: HP:0002307
- **Contratura em flexão do joelho** — HPO: HP:0006380
- **Polegar aduzido** — HPO: HP:0001181
- **Mácula hipopigmentada** — HPO: HP:0020073
- **Tetraplegia espástica** — HPO: HP:0002510
- **Mácula hiperpigmentada** — HPO: HP:0001034
- **Estenose subglótica** — HPO: HP:0001607
- **Nistagmo** — HPO: HP:0000639
- **Face redonda** — HPO: HP:0000311
- **Mão pequena** — HPO: HP:0200055
- **Comportamento autista** — HPO: HP:0000729
- **Marcha espástica** — HPO: HP:0002064
- **Hipotonia** — HPO: HP:0001252
- **Incapacidade de andar** — HPO: HP:0002540
- **Controle cefálico pobre** — HPO: HP:0002421
- **Orelhas de implantação baixa** — HPO: HP:0000369
- **11 pares de costelas** — HPO: HP:0000878
- **Déficit de crescimento grave** — HPO: HP:0001525
- **Teto acetabular inclinado** — HPO: HP:0010455
- **Asas nasais subdesenvolvidas** — HPO: HP:0000430
- **Deficiência intelectual, leve** — HPO: HP:0001256
- **Microtia** — HPO: HP:0008551
- **Fissura palpebral longa** — HPO: HP:0000637
- **Mancha café com leite** — HPO: HP:0000957
- **Aumento da translucência nucal** — HPO: HP:0010880
- _...e mais 147 sintomas. Ver https://raras.org/doenca/microcefalia-isolada-congenita._

## Genes associados (34)

- **NUP37** — Nucleoporin Nup37 [Disease-causing germline mutation(s) in]
  - Função: Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for nor
- **ZNF335** — Zinc finger protein 335 [Disease-causing germline mutation(s) in]
  - Função: Component or associated component of some histone methyltransferase complexes may regulate transcription through recruitment of those complexes on gene promoters (PubMed:19131338, PubMed:23178126). En
- **NCAPH** — Condensin complex subunit 2 [Disease-causing germline mutation(s) in]
  - Função: Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive superc
- **RRP7A** — Ribosomal RNA-processing protein 7 homolog A [Disease-causing germline mutation(s) in]
  - Função: Nucleolar protein that is involved in ribosomal RNA (rRNA) processing (PubMed:33199730). Also plays a role in primary cilia resorption, and cell cycle progression in neurogenesis and neocortex develop
- **BUB1** — Mitotic checkpoint serine/threonine-protein kinase BUB1 [Disease-causing germline mutation(s) in]
  - Função: Serine/threonine-protein kinase that performs 2 crucial functions during mitosis: it is essential for spindle-assembly checkpoint signaling and for correct chromosome alignment. Has a key role in the
- **NCAPD2** — Condensin complex subunit 1 [Disease-causing germline mutation(s) in]
  - Função: Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive superc
- **ASPM** — Abnormal spindle-like microcephaly-associated protein [Disease-causing germline mutation(s) in]
  - Função: Involved in mitotic spindle regulation and coordination of mitotic processes. The function in regulating microtubule dynamics at spindle poles including spindle orientation, astral microtubule density
- **MCPH1** — Microcephalin [Disease-causing germline mutation(s) in]
  - Função: Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex
- **CDK6** — Cyclin-dependent kinase 6 [Disease-causing germline mutation(s) in]
  - Função: Serine/threonine-protein kinase involved in the control of the cell cycle and differentiation; promotes G1/S transition. Phosphorylates pRB/RB1 and NPM1. Interacts with D-type G1 cyclins during interp
- **PDCD6IP** — Programmed cell death 6-interacting protein [Disease-causing germline mutation(s) in]
  - Função: Multifunctional protein involved in endocytosis, multivesicular body biogenesis, membrane repair, cytokinesis, apoptosis and maintenance of tight junction integrity. Class E VPS protein involved in co
- **CENPE** — Centromere-associated protein E [Disease-causing germline mutation(s) in]
  - Função: Microtubule plus-end-directed kinetochore motor which plays an important role in chromosome congression, microtubule-kinetochore conjugation and spindle assembly checkpoint activation. Drives chromoso
- **WARS1** — Tryptophan--tRNA ligase, cytoplasmic [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the attachment of tryptophan to tRNA(Trp) in a two-step reaction: tryptophan is first activated by ATP to form Trp-AMP and then transferred to the acceptor end of the tRNA(Trp) Has no angios
- **TRAPPC10** — Trafficking protein particle complex subunit 10 [Disease-causing germline mutation(s) in]
  - Função: Specific subunit of the TRAPP (transport protein particle) II complex, a highly conserved vesicle tethering complex that functions in late Golgi trafficking as a membrane tether
- **PYCR2** — Pyrroline-5-carboxylate reductase 2 [Disease-causing germline mutation(s) in]
  - Função: Oxidoreductase that catalyzes the last step in proline biosynthesis, which corresponds to the reduction of pyrroline-5-carboxylate to L-proline using NAD(P)H (PubMed:23024808, PubMed:2722838, PubMed:6
- **TAF13** — Transcription initiation factor TFIID subunit 13 [Disease-causing germline mutation(s) in]
  - Função: The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription (PubMed:33795473, PubMed:9695952). TFIID recognizes and binds pr

## Ensaios clínicos ativos (5)

- **NCT06514482** [RECRUITING]: Spanish Registry of Patients With Sleep Apnea and Daytime Sleepiness — https://clinicaltrials.gov/study/NCT06514482
- **NCT07373782** [RECRUITING]: Continuous Positive Airway Pressure (CPAP) Assisted Radiotherapy in Breast Cancer — https://clinicaltrials.gov/study/NCT07373782
- **NCT06983769** [RECRUITING]: CPAP vs MAD for OSA in Patients With Cognitive Impairment. A Randomized Clinical Trial — https://clinicaltrials.gov/study/NCT06983769
- **NCT03312556** [RECRUITING]: Treatment of Supine Hypertension in Autonomic Failure (CPAP) — https://clinicaltrials.gov/study/NCT03312556
- **NCT07079527** [NOT_YET_RECRUITING]: Effects of Manual Positive End Expiratory Pressure and Non-invasive Continuous Positive Air Pressure in COPD Patients — https://clinicaltrials.gov/study/NCT07079527

## Doenças relacionadas (por similaridade fenotípica)

- [Síndrome de hipotonia-transtorno da linguagem-transtorno do desenvolvimento intelectual grave](https://raras.org/doenca/sindrome-de-hipotonia-transtorno-da-linguagem-transtorno-do-desenvolvimento-intelectual-grave) — ORPHA:371364 — 65 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 — 63 sintomas em comum
- [Síndrome Seckel](https://raras.org/doenca/sindrome-seckel) — ORPHA:808 — 60 sintomas em comum
- [Polimicrogiria bilateral](https://raras.org/doenca/polimicrogiria-bilateral) — ORPHA:268940 — 59 sintomas em comum
- [Síndrome Galloway-Mowat](https://raras.org/doenca/sindrome-galloway-mowat) — ORPHA:2065 — 58 sintomas em comum
- [Síndrome de blefarofimose-perturbação do desenvolvimento intelectual](https://raras.org/doenca/sindrome-de-blefarofimose-perturbacao-do-desenvolvimento-intelectual) — ORPHA:293642 — 57 sintomas em comum
- [Síndrome Walker-Warburg](https://raras.org/doenca/899) — ORPHA:899 — 56 sintomas em comum
- [Síndrome epiléptico de início neonatal-infantil](https://raras.org/doenca/sindrome-epileptico-de-inicio-neonatal-infantil) — ORPHA:693802 — 56 sintomas em comum
- [Monossomia parcial do cromossomo 3](https://raras.org/doenca/monossomia-parcial-do-cromossomo-3) — ORPHA:261776 — 55 sintomas em comum
- [Síndrome White-Sutton](https://raras.org/doenca/sindrome-white-sutton) — ORPHA:468678 — 54 sintomas em comum

## Importante

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Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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