Microcephaly-glomerulonephritis-marfanoid habitus syndrome
ORPHA:2172· ICD-10 Q87.8
Definition
A rare multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly present at birth with no other cerebral anomalies, moderate intellectual disability, marfanoid habitus (including tall stature, highly arched palate, prognathism, arachnodactyly, and joint laxity) and focal segmental glomerulonephritis leading to renal failure. Dorsal kyphosis can also be present. There have been no further reports since 1992.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal