Raras
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Introdução

O que você precisa saber de cara

📋

Esta é uma lista de doenças começando com a letra "H".

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
2
pacientes catalogados
Início
Neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q87.0
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

😀
Face
3 sintomas
🫃
Digestivo
1 sintomas
🫘
Rins
1 sintomas
🫁
Pulmão
1 sintomas
🧠
Neurológico
1 sintomas

+ 3 sintomas em outras categorias

Características mais comuns

90%prev.
Hérnia da parede abdominal
Muito frequente (99-80%)
90%prev.
Anormalidade do sistema urinário
Muito frequente (99-80%)
90%prev.
Nariz largo
Muito frequente (99-80%)
90%prev.
Nariz longo
Muito frequente (99-80%)
90%prev.
Morfologia anormal do tórax
Muito frequente (99-80%)
90%prev.
Epicanto
Muito frequente (99-80%)
10sintomas
Muito frequente (7)
Frequente (3)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 10 características clínicas mais associadas, ordenadas por frequência.

Hérnia da parede abdominalHernia of the abdominal wall
Muito frequente (99-80%)90%
Anormalidade do sistema urinárioAbnormality of the urinary system
Muito frequente (99-80%)90%
Nariz largoWide nose
Muito frequente (99-80%)90%
Nariz longoLong nose
Muito frequente (99-80%)90%
Morfologia anormal do tóraxAbnormal thorax morphology
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2025
Últimos 10 anos5publicações
Pico20192 papers
Linha do tempo
2025Hoje · 2026
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

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome de hidrocefalia-umbigo de inserção baixa

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

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

Segmental Bowel Resection for Rectal Endometriosis Using the da Vinci SP.

Journal of minimally invasive gynecology2025 Jan

The da Vinci SP Surgical System (SP) received regulatory approval for use in gynecological surgeries in Japan in 2023. Given the advantages of the precision of a robot, less pain, and the cosmesis of single-port surgery, the da Vinci SP is expected to be further used for minimally invasive surgeries. To the best of our knowledge, this is the first report of the use of SP for the treatment of rectal endometriosis with segmental bowel resection. An urban general hospital. Stepwise demonstration of the technique with narrated video footage. The patient was a 46-year-old woman presented with chronic pelvic pain, pain on defecation, and constipation. Magnetic resonance imaging showed uterine large fibroid, left ovarian endometrioma, and 38 mm of rectal endometriosis, with complete cul-de-sac obliteration. We made a 30-mm vertical incision at the umbilicus, then placed the access port, and inserted three articulating instruments and a camera. An assistant port was placed in the right lower quadrant for using the linear stapler. The surgical steps were completely identical to conventional multiport laparoscopic robotic surgery. This suggests that conventional laparoscopic or robotic skills are highly transferrable to SP. SP offer several advantages, including high-resolution three-dimensional visualization, articulating instruments, and improved dexterity and range of motion. In addition, the umbilical access port was particularly useful for proximal bowel resection, specimen retrieval, and anvil positioning during bowel resection. The total operative time was 216 minutes. The estimated blood loss was 100 ml without any complications. The uterine weight was 800 g. The postoperative course was uneventful, with no perioperative complications, including no postoperative bladder dysfunction or low anterior resection syndrome [1,2]. The use of SP with the access port for segmental bowel resection for rectal endometriosis is technically safe and feasible, with good cosmesis and less pain.

#2

Safe and secure laparoscopy-assisted jejunostomy tube placement using a percutaneous loop needle device in an infant.

Journal of minimal access surgery2024 Apr 01

We, herein, report a surgical technique for laparoscopy-assisted jejunostomy tube placement in an infant using a loop needle device to fix the jejunum and abdominal wall. A 3-year-old boy with Down's syndrome underwent nutritional management by gastrostomy due to oral feeding difficulty after radical surgery for congenital duodenal stenosis and following bile duct stenosis. However, intractable gastrostomy site leakage emerged; hence, laparoscopy-assisted gastrostomy takedown and simultaneous laparoscopy-assisted jejunostomy tube placement were planned. After laparoscopy-assisted gastrostomy closure was performed, the jejunum was extracted through the umbilical trocar wound. A jejunostomy tube kit was inserted at the left side of the umbilicus. After tube insertion into the jejunum, the jejunostomy tube was wrapped with four interrupted sutures using the Witzel technique. Suture threads were extracted by percutaneous insertion of a loop needle device, and then, the jejunum was fixed to the abdominal wall. The post-operative course was uneventful. Percutaneous insertion of a loop needle device is useful for fixing a jejunostomy tube to the abdominal wall using the Witzel technique. Our technique is safe, secure and expected to reduce the risk of dislodgement of tube and peritonitis associated with jejunostomy tube placement.

#3

Laparoscopic Gastric Bypass Reversal with Concomitant Sleeve Gastrectomy (SG) for Refractory Hypoglycemia: an Unusual Procedure.

Obesity surgery2021 Jan

Post-bariatric surgery hypoglycemia is usually seen in patients with a history of gastric bypass surgery [1], and few experience severe symptoms [2]. The pathophysiology of post-gastric bypass surgery hypoglycemia is not well understood, and many theories have been proposed: excessive GLP-1, nesidioblastosis, and increased glucose effectiveness [3]. Thus, the etiology of this condition is complex. Laparoscopic GBP reversal is a very unusual procedure and indications may include excessive weight loss, unexplained GI tract symptoms, and severe hypoglycemia. Hypoglycemia should be managed non-surgically at first, but in case of medical therapy failure, surgical options may be considered. Surgical options include gastrostomy tube placement, gastric bypass reversal [4], or gastric bypass reversal with concomitant sleeve gastrectomy [5-7]. A partial reversal was also mentioned in the literature [6]. Laparoscopic conversion to a sleeve gastrectomy for hypoglycemia is unusual and converting an open gastric bypass to a laparoscopic sleeve gastrectomy is exceptional, even never reported. In this video (run time 6 min and 48 s), we present our procedure, which was performed by adopting a new technique. A 52-year-old lady was referred to us for hypoglycemia following an open gastric bypass revision that was done in 2012. Her past surgical history includes 2 laparoscopic gastric band surgeries with subsequent removal of the bands, open bypass surgery in 2007 and open bypass surgery revision in 2012. History goes back to 12 months ago when the patient started complaining of fatigue, lassitude, and symptoms consistent with Whipple's triad. OGTT (oral glucose tolerance test) showed low glucose levels at 2 h (2.7 mmol/l) and at 3 h (3.3 mmol/l). Serum insulin level and C-peptide were normal. The patient was diagnosed as having early dumping syndrome (reactive hypoglycemia). She was started on sitagliptin 1 tab once daily with dietary changes. Despite this management, she was hospitalized several times for worsening of her symptoms. When referred to our department, the patient asked about the possibility of a laparoscopic intervention, since she has suffered a lot from her previous laparotomy incisions. The laparoscopic surgery intervention was discussed with the patient and it was a challenging option in this case. The patient was placed in the lithotomy position with the surgeon standing between the patient's legs. An 11-mm trocar was inserted above the umbilicus. Under vision, 4 other trocars were inserted: a 12-mm trocar in the right midclavicular line and three 5-mm trocars in the epigastrium, left anterior axillary line, and left midclavicular line, respectively. We started with adhesiolysis in order to identify the gastro-jejunostomy and to free the abdominal esophagus. A subtle hiatal hernia was also reduced. Then, the jejuno-jejunostomy was identified, and the alimentary limb was measured. The latter was 70 cm in length, and the decision was to resect it, keeping the jejuno-jejunal anastomosis in place. The gastric pouch was divided just above the gastro-jejunal anastomosis. The alimentary limb was then exteriorized. Then, the gastric remnant was freed from its omental attachment. The gastric remnant and the gastric pouch were calibrated with a 40-Fr Faucher tube, and appropriate sequential firing was done using endo-GIA. A gastro-gastrostomy was fashioned by the end of the sleeve division to create the gastric tube. The operative time was 245 min, with minor blood loss (less than 250 cc). The perioperative course was uneventful, with no intra-operative or post-operative morbidity. An upper GI series was done on post-operative day 2 and showed no evidence of leak. It has been 11 months since the procedure and the patient has become normoglycemic. Her last FBS was 4.4 mmol and she is currently free of symptoms. Post-bariatric surgery hypoglycemia is a challenging condition, for both surgeons and endocrinologists. Our patient has suffered severe symptoms that were refractory to medical treatment and dietary modifications. Few papers have discussed LGBP conversion to a sleeve gastrectomy for hypoglycemia, but results from small series are showing promising results. Our case was challenging because of the patient's previous multiple open surgeries and the technique we have adopted is unique, since we have fashioned the sleeve by firing 2 separate gastric pouches (gastric pouch and gastric remnant) to create a gastric tube and by performing a gastro-gastrostomy with intra-corporeal sutures.

#4

[Analysis of treating bi syndrome by I-Ching navel acupuncture].

Zhongguo zhen jiu = Chinese acupuncture &amp; moxibustion2019 Jul 12

Based on the theories of I-Ching and umbilicus-hologram, the navel acupuncture is considered as a new acupuncture therapy that only acupuncture at Shenque (CV 8). It has a good effect on the treatment of bi syndrome and provides a new treatment idea for bi syndrome. This article presents the definition, etiology and treatment of bi syndrome, and introduces the application of umbilical-holographic, the principle and method of positioning and needle-inserting, the adjustment of therapies and the analysis of cases, in order to introduce the idea of treating bi syndrome by I-Ching navel acupuncture.

#5

Transumbilical Vaginoplasty Through Fractionated Miniports: A Sutureless Procedure.

Obstetrics and gynecology2019 Jul

Vaginal agenesis is a müllerian anomaly characterized by congenital absence of the vagina. In this case series, the authors describe a novel, minimally invasive technique using microport entry for treatment of complete vaginal agenesis. A balloon catheter is passed through a fenestrated perfluoroalkoxy polymer resin-supporting platform, then tied by a silk suture over the caudal end of the inserter. Two 4-mm microports are created intraumbilically; one to insert the scope and the other to introduce the catheter inserter that is advanced under direct vision. The inserter loaded with a catheter is passed across the pelvic floor to position the balloon at the vaginal dimple. The balloon is inflated and tightly positioned against the dimple. The perfluoroalkoxy polymer resin piece is clamped at the umbilicus. Traction is applied to the catheter stem and increased progressively to achieve desired vaginal depth. Twenty-two women aged 17-28 years with vaginal agenesis underwent microport vaginoplasty. Twenty-one women were diagnosed with müllerian agenesis and one patient with androgen insensitivity syndrome. Preoperative vaginal depth ranged between 0.5 and 3 cm. The procedure was well tolerated with no intraoperative or postoperative complications. Patients achieved neovaginal depth between 9 and 11 cm and penetrations scores increased to 80-90%. Microport vaginoplasty is a feasible and effective procedure for management of vaginal agenesis.

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Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

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. Segmental Bowel Resection for Rectal Endometriosis Using the da Vinci SP.
    Journal of minimally invasive gynecology· 2025· PMID 39147016mais citado
  2. Safe and secure laparoscopy-assisted jejunostomy tube placement using a percutaneous loop needle device in an infant.
    Journal of minimal access surgery· 2024· PMID 37357488mais citado
  3. Laparoscopic Gastric Bypass Reversal with Concomitant Sleeve Gastrectomy (SG) for Refractory Hypoglycemia: an Unusual Procedure.
    Obesity surgery· 2021· PMID 33165754mais citado
  4. [Analysis of treating bi syndrome by I-Ching navel acupuncture].
    Zhongguo zhen jiu = Chinese acupuncture &amp; moxibustion· 2019· PMID 31286739mais citado
  5. Transumbilical Vaginoplasty Through Fractionated Miniports: A Sutureless Procedure.
    Obstetrics and gynecology· 2019· PMID 31188326mais citado
  6. The impact of the COVID-19 pandemic on incidence and clinical presentation of thrombotic microangiopathies: data from a laboratory centralizing ADAMTS-13 testing in Quebec.
    Orphanet J Rare Dis· 2025· PMID 40993743recente
  7. The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
    Hum Mutat· 2022· PMID 35178824recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2184(Orphanet)
  2. MONDO:0043164(MONDO)
  3. GARD:4199(GARD (NIH))
  4. Busca completa no PubMed(PubMed)

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

Compêndio · Raras BR

Síndrome de hidrocefalia-umbigo de inserção baixa

ORPHA:2184 · MONDO:0043164
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
CID-10
Q87.0 · Síndromes com malformações congênitas afetando predominantemente o aspecto da face
Início
Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C2931734
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