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Warburg-Cinotti syndrome
Other Resources UpToDate PubMed

Warburg-Cinotti syndrome

Contributors: Ruth X. Wang MD, PhD, Susan Burgin MD, Eric Ingerowski MD, FAAP
Other Resources UpToDate PubMed

Synopsis

Warburg-Cinotti syndrome is an extremely rarely reported, progressive, autosomal dominant condition characterized by corneal neovascularization, blepharophimosis, conductive hearing loss with cholesteatomas, lipodystrophy, an increased tendency for keloid and ulcer formation, flexion contractures of small and sometimes large joints, and acroosteolysis.

The syndrome is thought to be caused by activating autophosphorylation mutations in the discoidin domain receptor tyrosine kinase 2 (DDR2), a collagen-responsive receptor tyrosine kinase that regulates connective tissue formation. DDR2 signaling has been shown to regulate the collagen cross-linking involved in remodeling of wound matrices and the fibroblast-mediated contraction of healing wounds. The inheritance pattern is believed to be autosomal dominant.

Affected individuals are often born with clubfoot and have early development of hearing loss, flexion contractures, and skin manifestations. Ocular findings such as corneal neovascularization that eventually result in symblepharon, corneal vascular pannus, and reduced central corneal thickness usually progress throughout life and result in visual impairment in later life. Facial features include narrowing of the nasal bridge, lower / midface retrusion, short palpebral fissures and epicanthal folds, posteriorly rotated ears with thin cartilage, high palate, and mispositioned teeth. Skin findings include generalized thin skin, hair loss, follicular hyperkeratosis, pigmented keloid formation, and sterile abscesses of the hands and feet. Pseudosyndactyly and osteolysis are further acral manifestations.

Cognition is normal and shows no abnormal decline with age, and there is no elevated risk for vascular disease or cancer.

Codes

ICD10CM:
M35.9 – Systemic involvement of connective tissue, unspecified

SNOMEDCT:
363045008 – Connective tissue hereditary disorder

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Last Reviewed:05/30/2022
Last Updated:07/10/2022
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Warburg-Cinotti syndrome
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A medical illustration showing key findings of Warburg-Cinotti syndrome : Conductive hearing loss
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