Split Hand/Foot Genetic Research

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:

  • Isolated SHFM
  • SHFM with other skeletal anomalies, including long bone deficiency and triphalangeal thumb syndrome
  • Syndromic forms of SHFM including:
    • Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome
    • SHFM with sensorineural hearing loss
    • SHFM with microphthalmia, colobomas or other eye defects
  • Microcephaly-microphthalmia-ectrodactyly-prognathism syndrome
  • Any other syndrome with SHFM as a feature

Learn more about the study and how to submit a sample by calling Heather Davis, RN at 1-800-939-1920.

The molecular investigation of Split-Hand/Food Malformation is in keeping with the Greenwood Genetic Center’s overreaching goal of reducing the impact and prevalence of genetic disorders.

Meet Reggie Roper

Meet Reggie Roper

Reggie has been part of the GGC family for over 18 years. He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay. He carried an initial diagnosis of cardiofaciocutaneous (CFC) syndrome; however, as genetic testing advanced, GGC made the diagnosis of Noonan-like syndrome with loose anagen hair by identifying a mutation in the SHOC2 gene. He is also an active participant in the Greenwood Community Theatre's Penguin Project. "GGC is...

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