Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome

Orpha code: 247827OMIM code: 613576

Definition

A rare ectodermal dysplasia syndrome characterized by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported.

Disease data
Classification

Malformation syndrome

Synonyms
EDCS
EDSS2
Zespół dysplazji ektodermalnej - nadmiernej potliwości - syndaktylii skórnej
ORPHA code
247827
OMIM code
613576
ICD10 code
Q82.8
ICD11 code
-

No additional description.

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