Guttmacher syndrome

Guttmacher syndrome is an extremely rare condition characterized by several limb abnormalities. People with this syndrome may show underdeveloped thumbs and big toes, abnormal fifth fingers (clinobrachydactyly), extra fingers on the hands (postaxial polydactyly), and very short or single phalanged second toes that may lack nails. Additionally, hypospadias, which is an abnormal opening of the urethra in individuals with a penis, can be present. This condition presents a unique set of physical features that are evident from birth. It is important to note that because Guttmacher syndrome is very rare, information about the full range of its impacts is still being explored by the medical community.

The signs and symptoms of Guttmacher syndrome include hypoplastic (underdeveloped) thumbs and big toes, clinobrachydactyly of the fifth fingers (where the finger is shorter or fused), and postaxial polydactyly (extra digits) of the hands. Additionally, individuals may have short or uniphalangeal second toes with absent nails and hypospadias.

Guttmacher syndrome is related to changes in the HOXA13 gene. The name of the syndrome and its pattern suggest an autosomal dominant inheritance, meaning that a single copy of the altered gene might be enough to cause the condition. More detailed genetic information is still being studied, so current insights are based on known genetic associations.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.