A síndrome de Treacher Collins é uma doença genética caracterizada por deformidades craniofaciais, que afeta o desenvolvimento de estruturas geradas a partir do primeiro e segundo arcos branquiais durante a sétima semana de gestação, período no qual os ossos da face estão em formação e a interferência nos genes codificadores dessas estruturas pode ocorrer. É uma anomalia rara, com incidência de 1:40000 a 1:70000 nascidos vivos.
Introdução
O que você precisa saber de cara
Coloboma da pálpebra inferior é uma fenda congênita na pálpebra inferior, podendo variar em tamanho e gravidade. Essa condição pode expor o olho, levando a ressecamento, irritação e problemas de visão.
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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
Linha do tempo da pesquisa
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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
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Coloboma da pálpebra inferior
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Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
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Publicações mais relevantes
Association between blepharophimosis-ptosis-epicanthus inversus syndrome and lacrimal system anomalies.
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a congenital eyelid syndrome. Several associations, including the horizontal displacement of the puncta, canalicular stenosis, and ectropion have been so far described. Herein, we report a one-year-old boy presented to the Oculoplastic Clinic of Farabi Eye Hospital with complaint of watery discharge from both eyes since his birth. Based on the general appearance, the diagnosis of BPES was made. Mild tear regurgitation from the inferior punctum was noted. Detailed examination showed bilateral superior punctal agenesis with coloboma of both upper eyelids and lateral displacement of the inferior puncta. Multiple unsuccessful attempts of probing were suggestive of the presence of NLDO. The patient was managed by performing canaliculodacryocystorhinostomy. Osteotomy was performed to pass the canalicular and nasolacrimal obstruction followed by a successful canaliculoplasty. Finally, the lacrimal drainage system was intubated with a mono-Crawford from the inferior punctum into the nasal cavity. On the 1st-month follow-up visit, the complaint of watery discharge was resolved. This is an extremely rare report of nasolacrimal duct and sac anomaly in a patient with blepharophimosis. Thus, we recommend the evaluation of the nasolacrimal drainage system in these patients after the first month of birth.
Single-stage upper eyelid switch flap for the repair of post-traumatic contracted socket and lower eyelid coloboma.
The use of eyelid switch flap in the correction of lower eyelid coloboma in a post-traumatic contracted socket is described. The lower eyelid, inferior fornix and lateral canthus were successfully created in a single stage with a switch flap from the upper eyelid. A satisfactory cosmetic outcome and a stable fornix for placement of a custom ocular prosthesis was achieved.
Isolated eyelid coloboma in association with complex choristoma in a newborn: A case report.
Ocular choristomas are rare lesions that have been reported at the conjunctiva, sclera, orbit, or intraocularly with significant potential for visual disturbance. The complex type of choristomas shows a mixture of different cartilaginous, glandular, and muscular tissue in addition to fat. We present a patient with an associated eyelid coloboma and complex choristoma. A 12-day-old baby boy was referred to our hospital with an upper medial eyelid coloboma affecting almost two-thirds of the eyelid length with an additional sub-brow mass since birth. The baby also had secondary findings to the eyelid coloboma defect: temporal conjunctival symblepharon, vascularized cornea, and inferior pannus. The patient underwent an upper eyelid reconstruction with excisional biopsy of the sub-brow mass, which was diagnosed as a complex choristoma. This is the first case of an eyelid coloboma-associated with complex choristoma without any other systemic associations.
Lacrimal drainage anomalies in Tessier cleft 3 with unilateral anophthalmos.
Bilateral Tessier cleft types 3 and 4 are rare and commonly involve the lacrimal drainage system owing to their anatomical location. Such clefts commonly present with associated ocular anomalies and include colobomatous eyelids, hypertelorism, microphthalmia, punctal or canalicular agenesis, and nasolacrimal duct obstruction or exstrophy. The current report presents an 18-month-old baby with bilateral Tessier cleft 3 with a unilateral anophthalmos, symmetrical eyelid colobomas, and lacrimal drainage anomalies. The lacrimal anomalies noted include small lacrimal sac with inferior canaliculus on the right side and upper and lower punctal and canalicular agenesis on the left side. Computed tomographic dacryocystography demonstrated unilateral lacrimal sac and bilateral maldevelopment of the bony nasolacrimal duct.
Anthropometrically-Based Surgical Technique for Tessier 3 Cleft Reconstruction.
Craniofacial clefts are rare entities, with an incidence reported as 1.43 to 4.85 per 100,000 births. The Tessier number 3 cleft, the most medial of the oblique clefts, can manifest as clefting of the lip between the canine and lateral incisors, colobomas of the nasal ala and lower eyelid, and inferior displacement of the medial canthus-frequently disrupting the lacrimal system with extreme variability in expressivity (Eppley).Literature on cleft lip repair is extensive and has evolved to incorporate anthropometric techniques, based on identifiable landmarks and anthropometric measurements that are compared with contralateral unaffected anatomy or population means and tracked over time to assess impact on growth. Recent focus has been placed on "subunit" repair that repairs "like with like." These approaches have resulted in a remarkable reproducibility of methods and outcomes.Facial cleft surgery publications are sparse due to the rarity of the disorders, and consensus has yet to develop on standardized landmarks, reference measurements, and principles of repair. The authors describe a method of correcting incomplete unilateral Tessier 3 cleft based on the principles described above. Intraoperative photographs, including secondary revisions, as well as immediate and long-term postoperative results are presented.
Publicações recentes
Association between blepharophimosis-ptosis-epicanthus inversus syndrome and lacrimal system anomalies.
Single-stage upper eyelid switch flap for the repair of post-traumatic contracted socket and lower eyelid coloboma.
Lacrimal drainage anomalies in Tessier cleft 3 with unilateral anophthalmos.
Anthropometrically-Based Surgical Technique for Tessier 3 Cleft Reconstruction.
[About Cryptophthalmos (2nd Czech Study)].
📚 EuropePMCmostrando 6
Isolated eyelid coloboma in association with complex choristoma in a newborn: A case report.
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyAssociation between blepharophimosis-ptosis-epicanthus inversus syndrome and lacrimal system anomalies.
Orbit (Amsterdam, Netherlands)Single-stage upper eyelid switch flap for the repair of post-traumatic contracted socket and lower eyelid coloboma.
Orbit (Amsterdam, Netherlands)Lacrimal drainage anomalies in Tessier cleft 3 with unilateral anophthalmos.
European journal of ophthalmologyAnthropometrically-Based Surgical Technique for Tessier 3 Cleft Reconstruction.
The Journal of craniofacial surgery[About Cryptophthalmos (2nd Czech Study)].
Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnostiAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Coloboma da pálpebra inferior.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Coloboma da pálpebra inferior
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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.
- Association between blepharophimosis-ptosis-epicanthus inversus syndrome and lacrimal system anomalies.
- Single-stage upper eyelid switch flap for the repair of post-traumatic contracted socket and lower eyelid coloboma.
- Isolated eyelid coloboma in association with complex choristoma in a newborn: A case report.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society· 2021· PMID 35601867mais citado
- Lacrimal drainage anomalies in Tessier cleft 3 with unilateral anophthalmos.
- Anthropometrically-Based Surgical Technique for Tessier 3 Cleft Reconstruction.
- [About Cryptophthalmos (2nd Czech Study)].
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:155889(Orphanet)
- MONDO:0015481(MONDO)
- GARD:19978(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55785501(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
