[1] The syndrome is characterized by overgrowth, craniofacial dysmorphia, intellectual disability, and behavioral issues.
All individuals display some degree of global developmental delay and intellectual disability which typically ranges from moderate to severe, though mild cases have been observed.
[2] The facial gestalt of Malan syndrome includes dolichocephaly, a long or triangular face, prominent forehead, depressed nasal bridge, deep-set eyes, downslanting palpebral fissures, short nose with anteverted nares, long philtrum, everted lower lip, and prominent chin.
Marfanoid features are extremely common, including scoliosis, hyperkyphosis or hyperlordosis, pectus excavatum or carinatum, slender habitus, and long hands.
[3] Individuals with Malan syndrome should receive comprehensive evaluation of all major body systems at diagnosis.