Ankyloblepharon filiforme imperforate anus
Synonyms
Ankyloblepharon filiforme - imperforate anus
Aughton-Hufnagle syndrome
Congenital and Genetic Diseases
Digestive Diseases
Ear, Nose, and Throat Diseases
Eye diseases
Mouth Diseases
Overview
A rare genetic disorder characterized by a narrowed or absent anal opening and in the wrong position as well as fused eyelids.
Symptoms
- Abnormal anus
- Absent anus
- Rectal opening into vagina
- Rectal opening near scrotum
- Imperforate anus
- Narrowed anus
- Lid adhesions
- Fused eyelids
- Congenital absence of teeth
- Congenital absence of many teeth
- Abnormality of the palpebral fissures
- Urogenital fistula
Causes
- 2q deletion - anal fistulae
- Abdominal Cancer - blood in stool
- Abdominal Neoplasms - blood in stool
- Acinic cell carcinoma - blood in stool
- Acute Gastritis - blood in stool
Resources
- NIH