Split-Hand/Foot Malformation (SHFM) is a genetic disorder affecting the development of the hands and/or feet. The severity ranges from webbing between the fingers or toes to missing digits to the partial or complete absence of extremities. Clefting in the hands and feet are also common, giving the hands and/or feet a split appearance.
SHFM affects 1 in 8,000-25,000 individuals and can cause significant quality of life issues including both cosmetic and functional concerns. Skeletal anomalies such as SHFM are often inherited, but the cause of many cases of SHFM are still unknown. The gene p63 on chromosome 3 has been identified as the cause in some cases. Researchers have also identified several associated genes and loci including the SHFM3 locus on chromosome 10q24 and deletions of chromosome 17p13.3 in SHFM with long bone deficiency.
Split-Hand/Foot Research at the Greenwood Genetic Center
The goals of GGC’s SHFM research are to identify additional genes that may contribute to SHFM and clarify the molecular and developmental mechanisms that cause Split-Hand/Foot Malformation in humans. SHFM occurs in many forms.
The types of SHFM currently under investigation at GGC are:
SHFM with other skeletal anomalies, including long bone deficiency and triphalangeal thumb syndrome
The journey to becoming parents did not start as an easy one for my husband and I. We suffered the heartache of miscarriage and the unimaginable pain of burying our first born child. Our son, sweet 1 lb 1.4 ounce, 12 inches long, teeny, tiny little Joseph “Hamilton” Jones was born with spina bifida, hydrocephalus, and a heart defect. It tore our hearts out leaving the hospital without him, knowing our dreams and hope for the future were shattered....