Ankyloblepharon filiforme adnatum-cleft…

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Ankyloblepharon filiforme adnatum-cleft palate syndrome

ORPHA:1072Clinical subtype

What it is

A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate. Eye examination is otherwise normal.

Key facts

Age of onset
Neonatal
Inheritance
Autosomal dominant
Classified as
Clinical subtype

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Gene

TP63Disease-causing germline mutation(s)

ICD-10 codes

Q87.0filed under a broader ICD-10 category — shared with 154 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 696MONDO 0007123OMIM 106250UMLS C1862866

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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