The following Conditions are related to Large head

Select a specific condition below to view its details.

  • Dup(5p) syndrome

    Trisomy 5p is a rare chromosomal disorder in which all or a portion of the short arm (p) of chromosome 5 (5p) appears three times (trisomy) rather than twice in cells of the body. Often the duplicated portion of 5p (trisomy) is due to a complex rearrangement involving other chromosomes. These individuals have a variable phenotype depending on which chromosome is involved, the size of the duplication and whether there is loss of material from t  Read More

  • Holoprosencephaly

    Holoprosencephaly is a neuroanatomical malformation of the forebrain or frontal lobe. Impaired signaling between the neural crest and neural ectoderm is the cause of the disorder. it occurs during the period of gastrulation, two or three weeks after conception. Incomplete midline cleavage of the forebrain and craniofacial midline defects are the primary clinical features. Many genetic defects have been attributed to the disease. Nongenetic causes  Read More

  • Russell silver syndrome (rss)

    Russell-Silver syndrome (RSS) is a rare disorder characterized by intrauterine growth retardation and postnatal growth deficiency along with a handful of common physical characteristics and a range of other symptoms. The wide spectrum of phenotype findings vary both in incidence rate and severity from one individual to another. Besides prenatal and postnatal growth retardation, the most common characteristics are normal head circumference (app  Read More

  • Russell-silver dwarfism

    Russel-silver dwarfism, also known as Russel-silver syndrome, is a developmental disease. As the name suggests, a person born with the disease grows dwarf, with an average height in adulthood being 3 feet. The baby is born with macrocephaly and an underdeveloped body by size. Other clinical features include unusually prominent forehead (frontal bossing), progressive limb length discrepancy, growth failure, and feeding difficul  Read More