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Contractures-developmental delay-Pierre Robin syndrome

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Disease definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate) with joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices, and ocular abnormalities, among others.

ORPHA:436003

Classification level: Disorder

Synonym(s):
  • 5q23 microdeletion syndrome

Prevalence: <1 / 1 000 000

Inheritance: Unknown

Age of onset: Antenatal, Neonatal

ICD-10: Q87.0

UMLS: C5680042

A summary on this disease is available in Français (2020) Español (2020) Deutsch (2020) Nederlands (2020)
Detailed information
Guidelines
Clinical practice guidelines

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

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