Ablepharon macrostomy syndrome Q18.8
Synonym(s)
AMS
Definition
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Very rare, severely disfiguring syndrome with absence of eyelids, eyebrows, eyelashes and auricular, oral and genital malformations.
Etiopathogenesis
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Unsolved. Possibly heterogeneous clinical picture. Distinction from individual descriptions e.g. with pronounced hypertrichosis unclear.
Clinic
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Microstomy; Ablepharon; absence of eyebrows; strabismus; hypertelorism; cutis laxa; ichthyosiform lesions; auricular dysplasia; syndactylia.
Literature
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- McCarthy GT, West CM (1977) Ablepharon macrostomia syndrome. Develop Med Child Neurol 19: 659-672
- Stevens CA, Sargent LA (2002) Ablepharon-macrostomia syndrome. At J Med Genet 107: 30-37
Recommended articles
Outgoing links (1)
Hypertrichoses;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
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Prof. Dr. med. Peter Altmeyer