Postaxial polydactyly type A

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Postaxial polydactyly type A

ORPHA:93334Morphological anomaly

What it is

A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, with an extra, well-formed, functional digit at the metacarpophalangeal/metatarsophalangeal or carpometacarpal/tarsometatarsal joint. The malformation can be an isolated finding or be associated with a large number of other anomalies.

Key facts

Prevalence
1-5 / 10 000 (Mexico)
Age of onset
Antenatal
Inheritance
Autosomal recessive
Classified as
Morphological anomaly

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Genes

CIBAR1Disease-causing germline mutation(s)
GLI1Disease-causing germline mutation(s)
GLI3Disease-causing germline mutation(s)
IQCEDisease-causing germline mutation(s)
KIAA0825Disease-causing germline mutation(s)
ZNF141Disease-causing germline mutation(s)

ICD-10 codes

Q69.0filed under a broader ICD-10 category — shared with 3 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.

Cross-references

MONDO 0019673OMIM 174200OMIM 263450OMIM 602085OMIM 607324OMIM 608562OMIM 615226OMIM 617642OMIM 618219OMIM 618498UMLS C3887487

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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