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Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Disease definition
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.
ORPHA:65288
Classification level: DisorderSummary
Epidemiology
It has been described in four patients: two sisters and their female cousin belonging to a consanguineous Pakistani family, and one unrelated case (also born to consanguineous parents).
Clinical description
Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. One of the patients had pancreatic agenesis, and the others were suspected of having pancreatic hypoplasia.
Etiology
The syndrome is caused by mutations in the PTF1A gene (10p12.3).
Antenatal diagnosis
Prenatal diagnosis is possible by demonstration of the absence of the cerebellum and severe intra-uterine growth retardation.
Genetic counseling
The syndrome is transmitted as an autosomal recessive disorder.
Prognosis
All patients died in the neonatal period.
A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)
Detailed information
General public
- Article for general public
- Svenska (2018) - Socialstyrelsen
Disease review articles
- Clinical genetics review
- English (2022) - GeneReviews
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)Additional information