Living with Ankyloblepharon filiforme-imperforate anus syndrome
A rare syndrome present at birth with bands of tissue joining the eyelids and a closed anal opening.
Understanding Ankyloblepharon filiforme-imperforate anus syndrome
Stretchy bands of tissue connect the upper and lower eyelid edges, along with anal atresia (the anal opening doesn't form). Some people also have cleft palate, hydrocephalus (extra fluid in the brain), and meningomyelocele (a spinal defect). GARD says there have been no further descriptions in the literature since 1993.
Signs & symptoms
Symptoms vary. GARD lists these among the most common:
- Bands of tissue joining the eyelids (ankyloblepharon)
- Closed anal opening (anal atresia)
- Missing teeth
- Undescended testes
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, ear, nose, and throat specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
World Craniofacial Foundation and National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation, National Foundation for Ectodermal Dysplasias
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with World Craniofacial Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD describes this as a developmental defect during embryo development. It doesn't describe a specific cause.
Also known as: ankyloblepharon filiforme adnatum with imperforate anus syndrome; ankyloblepharon filiforme adnatum-imperforate anus syndrome; aughton hufnagle syndrome; aughton-hufnagle syndrome
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ankyloblepharon filiforme-imperforate anus syndrome.
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