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Midline cervical cleft

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Disease definition

A rare neck malformation characterized by a congenital vertical atrophic and usually erythematous skin defect of variable length, lacking adnexal elements and located along the midline of the anterior neck. It typically presents with a superior skin tag, a midline subcutaneous fibrous cord which is often longer than the overlying skin defect, and an inferior blind sinus from which mucus can be expressed. The length of the defect increases with patients' age. Likewise, the fibrous cord becomes more prominent with age, potentially leading to restriction of neck extension if the malformation is left untreated. Other possible complications include microgenia, exostosis, torticollis, or infection.

ORPHA:141288

Classification level: Disorder

Prevalence: -

Inheritance: Not applicable

Age of onset:

ICD-10: Q18.8

ICD-11: LA51

UMLS: C4479645

MeSH: C000719407

A summary on this disease is available in Français (2023) Español (2023) Italiano (2015) Nederlands (2023)
Additional information
The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.