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