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Síndrome hipopigmentação oculo-cerebral, tipo Cross
ORPHA:2719CID-10 · E70.3CID-11 · EC23.20OMIM 257800DOENÇA RARA

A síndrome de hipopigmentação oculocerebral, tipo Cross, é uma síndrome congênita rara caracterizada por hipopigmentação cutânea e ocular, várias anomalias oculares (por exemplo, opacidade da córnea e do cristalino, ectrópio espástico e/ou nistagmo), deficiência de crescimento, déficit intelectual e outras anomalias neurológicas progressivas, como tetraplegia espástica, hiperreflexia e/ou movimentos atetóides. O quadro clínico varia entre os pacientes e também pode incluir outras anomalias, como anomalias do trato urinário, malformações de Dandy-Walker e/ou hérnia inguinal bilateral.

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Introdução

O que você precisa saber de cara

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A síndrome de hipopigmentação oculocerebral, tipo Cross, é uma síndrome congênita rara caracterizada por hipopigmentação cutânea e ocular, várias anomalias oculares (por exemplo, opacidade da córnea e do cristalino, ectrópio espástico e/ou nistagmo), deficiência de crescimento, déficit intelectual e outras anomalias neurológicas progressivas, como tetraplegia espástica, hiperreflexia e/ou movimentos atetóides. O quadro clínico varia entre os pacientes e também pode incluir outras anomalias, como anomalias do trato urinário, malformações de Dandy-Walker e/ou hérnia inguinal bilateral.

Publicações científicas
10 artigos
Último publicado: 2011

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
14
pacientes catalogados
Início
Neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: E70.3
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (6)
0202010279
Dosagem de aminoácidos (erros inatos)metabolic_test
0202010295
Dosagem de ácidos orgânicos na urinagenetic_test
0202010490
Teste de triagem para erros inatos do metabolismonewborn_screening
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202080013
Teste do pezinho (triagem neonatal)
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

👁️
Olhos
7 sintomas
🦴
Ossos e articulações
5 sintomas
🧠
Neurológico
5 sintomas
🧬
Pele e cabelo
4 sintomas
😀
Face
3 sintomas
🩸
Sangue
1 sintomas

+ 19 sintomas em outras categorias

Características mais comuns

90%prev.
Morfologia anormal do palato
Muito frequente (99-80%)
90%prev.
Baixa estatura
Muito frequente (99-80%)
90%prev.
Pele fina
Muito frequente (99-80%)
90%prev.
Deficiência intelectual
Muito frequente (99-80%)
55%prev.
Catarata
Frequente (79-30%)
55%prev.
Albinismo ocular
Frequente (79-30%)
48sintomas
Muito frequente (4)
Frequente (27)
Ocasional (14)
Sem dados (3)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 48 características clínicas mais associadas, ordenadas por frequência.

Morfologia anormal do palatoAbnormal palate morphology
Muito frequente (99-80%)90%
Baixa estaturaShort stature
Muito frequente (99-80%)90%
Pele finaThin skin
Muito frequente (99-80%)90%
Deficiência intelectualIntellectual disability
Muito frequente (99-80%)90%
CatarataCataract
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa2desde 2024
Total histórico10PubMed
Últimos 10 anos9publicações
Pico20234 papers
Linha do tempo
2024Hoje · 2026🧪 1983Primeiro ensaio clínico📈 2023Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

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Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome hipopigmentação oculo-cerebral, tipo Cross

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Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Motor control on gait performance among individuals with lower crossed syndrome: A scoping review.

The Medical journal of Malaysia2024 Mar

Lower Cross Syndrome (LCS) is a prevalent condition that manifests as muscular tension due to the asymmetry in the strength of the lower extremity muscles. This imbalance could be due to the tautness of the iliopsoas, rectus femoris, tensor fascia latae, adductor group, gastrocnemius, and soleus muscles. LCS causes a postural imbalance in the individual, which triggers low back pain (LBP). When LCS is present alongside LBP, may cause the upper body to sway more in the transverse plane and at the lumbar level, making walking and termination of gait (GT) more difficult. However, the evidence of motor control and gait performance is scarce with inconclusive findings. Thus, this study aimed to review motor control on gait performance among individuals with lower crossed syndrome. This review is conducted to determine the motor control on gait performance in patients with LCS and how the conditions affect gait. The databases Google Scholar, Science Direct, ResearchGate, PubMed, and Scopus were searched to identify potentially relevant documents. The keywords used for the search included "motor control" OR "motor learning" OR" core stability" AND "lower crossed syndrome" AND "gait". The search includes articles published between 1970 and 2022 and written in English. It is excluded when the paper is not a full-text article. After finding the articles, the information was extracted, including author, year of publication, country, objective, type of study, and motor control analysis summary. There were 107 articles retrieved from the search. but only seventeen articles were included for analysis. The finding demonstrates that LCS may associate with LBP and reduces the motor control of the core muscle stability which indirectly influences gait performance. This study suggests that individuals with LCS will have an alteration in their gait. However, there is still insufficient information on motor control in gait performance among lower crossed syndrome. Further research is needed to find what factors that may contribute to the adaptation of motor control in gait among LCS population.

#2

IoT-Based Solution for Detecting and Monitoring Upper Crossed Syndrome.

Sensors (Basel, Switzerland)2023 Dec 26

A sedentary lifestyle has caused adults to spend more than 6 h seated, which has led to inactivity and spinal issues. This context underscores the growing sedentary behavior, exemplified by extended sitting hours among adults and university students. Such inactivity triggers various health problems and spinal disorders, notably Upper Crossed Syndrome (UCS) and its association with thoracic kyphosis, which can cause severe spinal curvature and related complications. Traditional detection involves clinical assessments and corrective exercises; however, this work proposes a multi-layered system for a back brace to detect, monitor, and potentially prevent the main signs of UCS. Building and using a framework that detects and monitors signs of UCS has facilitated patient-doctor interaction, automated the detection process for improved patient-physician coordination, and helped improve patients' spines over time. The smart wearable brace includes inertial measurement unit (IMU) sensors targeting hunched-back postures. The IMU sensors capture postural readings, which are then used for classification. Multiple classifiers were used where the long short-term memory (LSTM) model had the highest accuracy of 99.3%. Using the classifier helped detect and monitor UCS over time. Integrating the wearable device with a mobile interface enables real-time data visualization and immediate feedback for users to correct and mitigate UCS-related issues.

#3

Association between internet addiction and the risk of upper cross syndrome in Chinese college students: A cross sectional study.

Medicine2023 Jul 28

It is well established that increased internet use is related to an increased risk of upper cross syndrome (UCS) among adolescents. The relationship between internet addiction (IA), a unique condition involving severe internet overuse, and UCS has, however, not been reported. This study aimed to investigate the association between IA and the risk of UCS among Chinese college students. This cross sectional study (n = 2552) was conducted in November 2020. IA status was evaluated using the 20-item Young's Internet Addiction Test. IA was defined as internet addiction score ≥ 50 points. UCS was measured by means of a reference American College of Sports Medicine postural screening. Multiple logistic regression analysis was performed to determine association between IA categories (normal, mild, and moderate-to-severe) and UCS. Among all participants, the prevalence of UCS was 59.7%, male and female was reported by 42.2 and 24.8, respectively. The prevalence of IA was 67%, mild and moderate-to-severe of IA was reported by 42.2% and 24.8%, respectively. After adjusting for potential confounders (sex, age, single child, father's educational level, mother's educational level, smoking status, drinking status, Body mass index, physical activity, Sedentariness, and Depressive symptoms), the results showed significant differences in the risk of UCS among different IA categories. The odds ratios and 95% confidence intervals for UCS with IA categories were 1.000 (reference), 5.19 (4.27, 6.32), and 9.14 (7.14, 11.69), respectively (P for trends: < .001). This cross sectional study showed that severe IA was associated with a higher risk of UCS in Chinese college students. In future research, it will be necessary to explore causality regarding this relationship using interventional studies.

#4

The effect of a course of selected corrective exercises on posture, scapula-humeral rhythm and performance of adolescent volleyball players with upper cross syndrome.

BMC musculoskeletal disorders2023 Jun 14

This study aims to investigate the effect of a course of selected corrective exercises on posture, scapula-humeral rhythm and performance of adolescent volleyball players. 30 adolescent volleyball players with upper cross syndrome were purposefully selected and assigned into 2 control and training groups. The degree of back curvature was evaluated using a flexible ruler, forward head and forward shoulder size by photographic method, scapula-humeral rhythm by Lateral Scapular Slide Test (LSST), and performance by closed kinetic chain test. The training group performed the exercises for 10 weeks. After the exercises, the post-test was administered. To analyze the data, analysis of co-variance tests and paired t-test at the level of 0.05 were employed. The research results showed that corrective exercises have a significant effect on abnormalities of forward head, forward shoulder, kyphosis, scapula-humeral rhythm and performance. Corrective exercises can be effective in reducing shoulder girdle and spine abnormalities and improving scapula- humeral rhythm and performance of volleyball players.

#5

Cross-syndrome: myasthenia gravis and the demyelinating diseases of the central nervous system combination. Systematic literature review and case reports.

Acta neurologica Belgica2023 Apr

Nowadays the problem of comorbidity is still relevant. In this review, we describe clinical cases of the disease of the neuromuscular junction (myasthenia gravis (MG) generalized form) and the demyelinating disease of the central nervous system (DD CNS) (multiple sclerosis, neuromyelitis optica spectrum disorder (NMOSD), etc.) combinations registered in our practice with precise pathogenetic analysis. Although the number of the described associations is growing every year, the exact development mechanisms of this cross syndrome as well as the nature of the association between the discussed autoimmune diseases remain unknown. At the beginning of both disorders there is a considerable loss of auto tolerance of the immune system and, as a result, an increased response from autoreactive T-lymphocytes to the structures of the nervous system: brain cells and neuromuscular synapses. There are three main theories for comorbidity: initial predisposition, direct case relationship with disease-modifying therapy (DMT) application, and coincidence. It is known that early diagnostics of MG and timely administration of necessary adequate treatment reduce the risk of process generalization and lead to a decline in mortality. Therefore, the offer to examine MS patients with atypical symptoms for possible MG identification seems very rational. Similarly, MG patients having uncharacteristic symptoms that can be indicative of other autoimmune nervous system diseases also demand special diagnostics. Considering the presence of similar pathogenetic links, several authors propose a possibility of a new nosological unit establishment, including described comorbidity.

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Motor control on gait performance among individuals with lower crossed syndrome: A scoping review.
    The Medical journal of Malaysia· 2024· PMID 38555902mais citado
  2. IoT-Based Solution for Detecting and Monitoring Upper Crossed Syndrome.
    Sensors (Basel, Switzerland)· 2023· PMID 38202995mais citado
  3. Association between internet addiction and the risk of upper cross syndrome in Chinese college students: A cross sectional study.
    Medicine· 2023· PMID 37505162mais citado
  4. The effect of a course of selected corrective exercises on posture, scapula-humeral rhythm and performance of adolescent volleyball players with upper cross syndrome.
    BMC musculoskeletal disorders· 2023· PMID 37316911mais citado
  5. Cross-syndrome: myasthenia gravis and the demyelinating diseases of the central nervous system combination. Systematic literature review and case reports.
    Acta neurologica Belgica· 2023· PMID 35699899mais citado
  6. Oculocerebral hypopigmentation syndrome maps to chromosome 3q27.1q29.
    Dermatology· 2011· PMID 22327602recente
  7. What syndrome is this? Oculocerebral hypopigmentation syndrome of preus.
    Pediatr Dermatol· 2007· PMID 17542888recente
  8. A clinical variant of familial Hermansky-Pudlak syndrome.
    MedGenMed· 2003· PMID 12827064recente
  9. A new case of oculocerebral hypopigmentation syndrome (Cross syndrome) with additional findings.
    Clin Genet· 1997· PMID 9112000recente
  10. Oculocerebral hypopigmentation syndrome associated with Bartter syndrome.
    Am J Med Genet· 1993· PMID 8322826recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2719(Orphanet)
  2. OMIM OMIM:257800(OMIM)
  3. MONDO:0009767(MONDO)
  4. GARD:105(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q5188485(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Síndrome hipopigmentação oculo-cerebral, tipo Cross
Compêndio · Raras BR

Síndrome hipopigmentação oculo-cerebral, tipo Cross

ORPHA:2719 · MONDO:0009767
Prevalência
<1 / 1 000 000
Casos
14 casos conhecidos
CID-10
E70.3 · Albinismo
CID-11
Início
Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0268496
Wikidata
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