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Ankyloblepharon filiforme adnatum-imperforate anus syndrome
Disease definition
An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.
ORPHA:1074
Classification level: Subtype of disorder- Synonym(s):
- Aughton-Hufnagle syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Unknown
- Age of onset: Neonatal
- ICD-10: Q87.8
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: 697
- MedDRA: -
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