108 top medical experts on Ablepharon macrostomia syndrome across 15 countries and 7 U.S. states, including 12 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- 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.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Synonyms: Ablepharon-Macrostomia Syndrome
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