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Results for Query ‹ MCPH1 risk ›
Microcephaly – Causes | Postnatal onset
Genetic
- Inborn errors of metabolism
1. Congenital disorder of glycosylation
2. Mitochondrial disorders
3. Peroxisomal disorder
4. Glucose transporter defect
5. Menkes disease
6. Congenital disorders of amino acid metabolism
7. Organic acidemia
Syndromes
- Contiguous gene deletion
1. 17p13.3 deletion (Miller–Dieker syndrome)
- Single gene defects
1. Rett syndrome (primarily girls)
2. Nijmegen breakage syndrome
3. X-linked lissencephaly with abnormal genitalia
4. Aicardi–Goutières syndrome
5. Ataxia telangiectasia
6. Cohen syndrome
7. Cockayne syndrome
Acquired
- Disruptive injuries
1. Traumatic brain injury
2. Hypoxic-ischemic encephalopathy
3. Ischemic stroke
4. Hemorrhagic stroke
- Infections
1. Congenital HIV encephalopathy
2. Meningitis
3. Encephalitis
- Toxins
1. Lead poisoning
2. Chronic renal failure
- Deprivation
1. Hypothyroidism
2. Anemia
3. Congenital heart disease
4. Malnutrition
Genetic factors may play a role in causing some cases of microcephaly. Relationships have been found between autism, duplications of chromosomes, and macrocephaly on one side. On the other side, a relationship has been found between schizophrenia, deletions of chromosomes, and microcephaly. Moreover, an association has been established between common genetic variants within known microcephaly genes ("MCPH1, CDK5RAP2") and normal variation in brain structure as measured with magnetic resonance imaging (MRI)i.e., primarily brain cortical surface area and total brain volume.
The spread of Aedes mosquito-borne Zika virus has been implicated in increasing levels of congenital microcephaly by the International Society for Infectious Diseases and the US Centers for Disease Control and Prevention. Zika can spread from a pregnant woman to her fetus. This can result in other severe brain malformations and birth defects. A study published in The New England Journal of Medicine has documented a case in which they found evidence of the Zika virus in the brain of a fetus that displayed the morphology of microcephaly.
Microcephaly – Causes | Congenital
Isolated
1. Familial (autosomal recessive) microcephaly
2. Autosomal dominant microcephaly
3. X-linked microcephaly
4. Chromosomal (balanced rearrangements and ring chromosome)
Syndromes
- Chromosomal
1. Poland syndrome
2. Down syndrome
3. Edward syndrome
4. Patau syndrome
5. Unbalanced rearrangements
- Contiguous gene deletion
1. 4p deletion (Wolf–Hirschhorn syndrome)
2. 5p deletion (Cri-du-chat)
3. 7q11.23 deletion (Williams syndrome)
4. 22q11 deletion (DiGeorge syndrome)
- Single gene defects
1. Smith–Lemli–Opitz syndrome
2. Seckel syndrome
3. Cornelia de Lange syndrome
4. Holoprosencephaly
5. Primary microcephaly 4
6. Wiedemann-Steiner syndrome
Acquired
- Disruptive injuries
1. Ischemic stroke
2. Hemorrhagic stroke
3. Death of a monozygotic twin
- Vertically transmitted infections
1. Congenital cytomegalovirus infection
2. Toxoplasmosis
3. Congenital rubella syndrome
4. Zika virus
- Drugs
1. Fetal hydantoin syndrome
2. Fetal alcohol syndrome
Other
1. Radiation exposure to mother
2. Maternal malnutrition
3. Maternal phenylketonuria
4. Poorly controlled gestational diabetes
5. Hyperthermia
6. Maternal hypothyroidism
7. Placental insufficiency