Congenital ptosis

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Congenital ptosis

ORPHA:91411Disease

What it is

Congenital ptosis is characterized by superior eyelid drop present at birth.

Key facts

Age of onset
Infancy, Neonatal
Inheritance
Autosomal dominant, X-linked recessive
Classified as
Disease

Genes

COL25A1Disease-causing germline mutation(s)
ZFHX4Candidate gene tested

ICD-10 codes

Q10.0ICD-10 names this disease exactly — shared with 1 other rare disease

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.

Cross-references

MEDDRA 10015996MONDO 8340OMIM 178300OMIM 300245OMIM 616219UMLS C0266573

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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