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Genetic mutations cause most cases of microcephaly. [3] Relationships have been found between autism, duplications of genes and macrocephaly on one side. On the other side, a relationship has been found between schizophrenia, deletions of genes and microcephaly.
Causes defects of genes on chromosome 3 and 18. Seckel syndrome , or microcephalic primordial dwarfism (also known as bird-headed dwarfism , Harper's syndrome , Virchow–Seckel dwarfism and bird-headed dwarf of Seckel [ 1 ] ) is an extremely rare congenital nanosomic disorder.
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (often referred to by its acronym SPATCCM) is a rare autosomal recessive disease caused by mutations in the SLC1A4 gene encoding the ASCT1 protein.
Mandibulofacial dysostosis with microcephaly syndrome, also known as growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome, mandibulofacial dysostosis, guion-almeida type, or simply as MFDM syndrome is a rare genetic disorder which is characterized by developmental delays, intellectual disabilities, and craniofacial dysmorphisms.
Abnormalities will be observed progressively after birth whereby the child will display stunted growth and physical and cognitive development. The occipital-frontal circumference will be at or near the extreme lower end, the third percentile, indicating microcephaly. [3] There are both genetic and behavioural causes of microcephaly. [2]
To date, mutations in six loci and four genes associated with microcephaly have been discovered in humans. [28] ASPM, one of these genes, is found at the MCPH5 locus. [29] The most common cause of MCPH in humans is homozygous genetic mutation of the ASPM gene, orthologous to the Drosophila abnormal spindle gene (asp). [6]
MacDermot–Winter syndrome is a very rare fatal genetic disorder which is characterized by pre-natal developmental delay, cranio-facial dysmorphisms (such as microcephaly or dolichocephaly), genitalia hypoplasia and congenital-onset seizures.
Viljoen–Kallis–Voges syndrome, also known as microcephaly-brachydactyly-kyphoscoliosis syndrome, is a very rare genetic disorder which is characterized by severe intellectual disabilities, microcephaly, low height/short stature, brachydactyly type D, flat occiput, down-slanting palpebral fissures, low-set prominent ears, a broad nose, and kyphoscoliosis.