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Laryngotracheoesophageal cleft type 4
Disease definition
A serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress.
ORPHA:93941
Classification level: Subtype of disorder- Synonym(s):
- LTEC IV
- LTEC4
- Laryngo-tracheo-esophageal cleft type 4
- Prevalence: <1 / 1 000 000
- Inheritance: -
- Age of onset: Infancy, Neonatal
- ICD-10: Q32.1
- ICD-11: LA72
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Summary
Epidemiology
Prevalence of this form of LC is difficult to ascertain because of the extremely poor prognosis and death before diagnosis, but it is thought to be very rare. Fewer than 20 cases have been reported in the literature to date.
Clinical description
Patients have constant aspirations and serious life-threatening respiratory and swallowing disorders, often associated with other severe cardiopulmonary malformations.
Etiology
The causes underlying development of this anomaly are unknown.
Management and treatment
Parenteral nutrition may be required temporarily in patients with high-grade LCs due to the high risk of aspirations. High-grade LCs often require a mid- to long-term gastrostomy, often with fundoplication. Gastric division with a proximal drainage tube and distal gastrotomy have also been proposed. Treatment involves surgical correction of the cleft, often requiring an external cervical and/or thoracic approach, sometimes with cardiopulmonary bypass.
Prognosis
The prognosis in this type of LC is very poor.
A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011) Polski (2011, pdf)
Detailed information
Disease review articles
- Review article
- English (2011) - Orphanet J Rare Dis
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