Ablepharon macrostomia syndrome

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Ablepharon macrostomia syndrome

An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon macrostomia abnormal external ears syndactyly of the hands and feet skin findings (such as dry and coarse skin or redundant folds of skin) absent or sparse hair genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia absent or hypoplastic nipples umbilical abnormalities and growth retardation. It is a mainly sporadic disorder although a few familial cases having been reported and it displays significant clinical overlap with Fraser syndrome.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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