Micro syndrome


Micro syndrome: A rare, recessively inherited disorder characterized by intellectual impairment, small head, various eye problems, small genitals and abnormal brain development.


The list of signs and symptoms mentioned in various sources for Micro syndrome includes the 20 symptoms listed below:

  • Mental retardation
  • Small head
  • Congenital cataract
  • Small corneas
  • Small eyes
  • Underdeveloped corpus callosum
  • Underdeveloped genitals
  • Abnormal brain development
  • High nose bridge
  • Hypospadias
  • Reduced muscle tone
  • Increased body hair
  • Prominent ears
  • Limb weakness
  • Contractures
  • Peripheral retinal pigmentary changes
  • Short stature
  • Short upper lip groove
  • Undescended testes
  • Severe vision loss

Note that Micro syndrome symptoms usually refers to various symptoms known to a patient, but the phrase Micro syndrome signs may refer to those signs only noticable by a doctor.


Borck et al. (2011) identified homozygosity for a small in-frame deletion in the RAB3GAP2 gene


Graham et al. (2004) pointed out that a prenatal viral infection should be ruled out before considering mendelian origins for Micro syndrome. Nucleotide excision repair (NER) studies in cultured fibroblasts can be used to distinguish patients with Micro syndrome from those with COFS syndrome or Cockayne syndrome (see 216400), because the latter demonstrate hypersensitivity to ultraviolet radiation, whereas patients with Micro syndrome have normal results. Graham et al. (2004) stated that Micro syndrome can be distinguished from other similar clinical disorders with normal NER by the presence of significant visual impairment and cortical blindness despite early surgery for congenital cataracts, frontal polymicrogyria, thin corpus callosum, and cortical atrophy on MRI. 30 PubMed Neighbors


There is no specific treatment for Micro Syndrome, but there are ways to help the disorders, and illnesses that come with it. Many victims of Micro Syndrome need permanent assistance from their disorders and inabilities to move and support themselves. Seizures are not uncommon and patients should get therapy to help control them, and many patients also require wheelchairs to move, so an assistant would be needed at all times. Victims of Micro Syndrome are born appearing normal with slight hints of retardation. At the age of one, mental and physical retardation has started to show, along with some limb spasms. By the age of eight Micro Syndrome has already set in, and the patient will have joint contractures, Ocular Atrophy will become noticeable, the patient will most likely lose ability to walk, speak, and sometimes move at all.