Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability. Teeth anomalies include atrophic or absent teeth and hypoplasia of the enamel. Short roots and taurodontic molars were also observed. Contrasting with bone age delay, dental maturation was normal. Another case noted dental anomalies such as microdontia, missing lateral maxillary and central mandibular incisors (permanent dentition) and dentin dysplasia.
Seckel syndrome-1 is caused by homozygous or compound heterozygous mutation in the ATR gene (601215) on chromosome 3q23.
