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Microcephaly
A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
Winship Viljoen Leary syndrome [Supplementary Concept]
Date introduced: August 25, 2010
Oculodigitoesophagoduodenal syndrome [Supplementary Concept]
Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum; mutation in MYCN
Lymphedema, microcephaly and chorioretinopathy syndrome [Supplementary Concept]
Autosomal Recessive Primary Microcephaly [Supplementary Concept]
Date introduced: October 24, 2013
Galloway Mowat syndrome [Supplementary Concept]
Microcephaly albinism digital anomalies syndrome [Supplementary Concept]
Nijmegen Breakage Syndrome
A chromosome instability syndrome resulting from a defective response to DNA double-strand breaks. In addition to characteristic FACIES and MICROCEPHALY, patients have a range of findings including RADIOSENSITIVITY, immunodeficiency, increased cancer risk, and growth retardation. Causative mutations occur in the NBS1 gene, located on human chromosome 8q21. NBS1 codes for nibrin, the key regulator protein of the R/M/N (RAD50/MRE11/NBS1) protein complex which senses and mediates cellular response to DNA DAMAGE caused by IONIZING RADIATION.
Year introduced: 2006
Amish lethal microcephaly [Supplementary Concept]
Microcephaly, corpus callosum dysgenesis and cleft lip-palate [Supplementary Concept]
Corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation
Microcephaly nonsyndromal [Supplementary Concept]
Microcephaly seizures genital hypoplasia [Supplementary Concept]
Microcephaly deafness syndrome [Supplementary Concept]
Microcephaly cervical spine fusion anomalies [Supplementary Concept]
Microcephaly autosomal dominant [Supplementary Concept]
Achalasia microcephaly [Supplementary Concept]
Date introduced: June 25, 2010
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation [Supplementary Concept]
mutation in NHEJ1
Date introduced: November 5, 2012
Jejunal Atresia with Microcephaly and Ocular Anomalies [Supplementary Concept]
Microcephaly, Primary Autosomal Recessive, 1 [Supplementary Concept]
mutationin MCPH1
Filippi syndrome [Supplementary Concept]
Short stature, microcephaly, characteristic face, syndactyly and mental retardation; Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly