One of the main characteristics of the disorder is its facial phenotype. Children have hypertelorism or telecanthus, small nose, short or sparse eyelashes, oral anomalies (such as cleft palate, Pierre Robin sequence, and micrognathism), abnormal ears, and a short neck. Regarding growth and development, children experience mental retardation and post-natal growth failure (such as failure to thrive and delayed milestone). Neurological abnormalities include defects of the corpus callosum, hypotonia, and hearing loss.
Toriello–Carey syndrome
Gianotti–Crosti syndrome
Maroteaux–Lamy syndrome
Frank–Ter Haar syndrome
Wilson–Mikity syndrome
Crigler–Najjar syndrome
Griscelli syndrome type 2
Laurence–Moon syndrome