Preferred Label : Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis;
ICD-11 definition : This syndrome is characterized by neonatal diabetes mellitus associated with cerebellar
and/or pancreatic agenesis. 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). 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.
The syndrome is transmitted as an autosomal recessive disorder. It is caused by mutations
in the /i PTF1A /i gene (10p12.3). Prenatal diagnosis is possible by demonstration
of the absence of the cerebellum and severe intra-uterine growth retardation. All
patients died in the neonatal period.;
Origin ID : 1871318195;
Currated CISMeF NLP mapping
This syndrome is characterized by neonatal diabetes mellitus associated with cerebellar
and/or pancreatic agenesis. 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). 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.
The syndrome is transmitted as an autosomal recessive disorder. It is caused by mutations
in the /i PTF1A /i gene (10p12.3). Prenatal diagnosis is possible by demonstration
of the absence of the cerebellum and severe intra-uterine growth retardation. All
patients died in the neonatal period.
