A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe. The disease is DONSON-related microcephaly-short stature-limb abnormalities spectrum (MONDO_0035534, a Monarch Disease Ontology term).