An extremely rare developmental defect during embryogenesis malformation syndrome with characteristics of 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.
Sequence
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID
Concept Designation Description
Status
Designation Type
PHIN Preferred Term Flag
Code Flag
3726294013
Aughton Hufnagle syndrome
Active
Synonym
false
false
3726299015
Ankyloblepharon filiforme adnatum with imperforate anus syndrome