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Acro-pectoro-renal dysplasia

Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Not applicable
Age of onset Neonatal
  • Q87.8
MeSH -
MedDRA -


Disease definition

Acro-pectoro-renal field defect is a very rare association of a Poland anomaly (see this term), that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles.

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