Stimmler syndrome
ORPHA:3199· ICD-10 Q87.1
Definition
A rare multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, dwarfism, severe intellectual disability, diabetes meilitus and enamel hypoplasia associated with alaninuria and high levels of alanine pyruvate and lactate in the blood. Affected individuals have low birth weight and they often develop limb ataxia that may lead to inability to walk. There have been no further descriptions in the literature since 1970.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal