Halperin-Birk syndrome
| Halpein-Birk syndrome | |
|---|---|
| Other names | HLBKS |
| Specialty | Neurodevelopmental |
| Symptoms | Intrauterine growth retardation, developmental delay, spastic quadriplegia with profound contractures, dysmorphism, microcephaly and agenesis of the corpus callosum |
| Usual onset | Congenital |
| Causes | SEC31 gene LOF mutation |
| Prognosis | Early lethality |
Halperin-Birk syndrome (HLBKS) is a rare autosomal recessive neurodevelopmental disorder caused by a null mutation in the SEC31A gene. Signs and symptoms include intrauterine growth retardation, marked developmental delay, spastic quadriplegia with profound contractures, dysmorphism, and optic nerve atrophy with no eye fixation. Brain MRI demonstrated microcephaly and agenesis of the corpus callosum.
The syndrome was first described in 2019 by Dr. Daniel Halperin and Prof. Ohad Birk at the Morris Kahn Laboratory for Human Genetics, Ben Gurion University of the Negev.