ablepharon macrostomia syndrome
Ablepharon macrostomia syndrome is 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.
MONDO:0002254
syndromic disease
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MONDO:0003847
hereditary disease
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MONDO:0015160
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
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AMS
exact
Ablepharon-Macrostomia Syndrome
exact
ablepharon-macrostomia syndrome
exact
congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies
related