Split Hand/Split Foot Malformation (SHFM) is a rare condition characterized by complete/partial absence of some fingers and toes and clefts in hands and feet. SHFM can be due to autosomal dominant, X-linked recessive, or sporadic mutations. Patients with SHFM usually have normal development; however, there is rare incidence of deafness and intellectual disability.
SHFM is even rarer in twins, demonstrated by only a few available studies. The twins are fraternal yet carry the same mutation, likely autosomal dominant transmission from their father. This genetic mutation has variable penetrance, as revealed in this case of SHFM with phenotypic differences noted between the father and even the twins themselves.
These limb anomalies must be recognized promptly, in-utero or postnatally. SHFM may lead to normal life expectancy, but there is a risk of hearing loss, intellectual disability and need for orthopedic interventions. Ectrodactyly is associated with diseases such as ectrodactyly-ectodermal dysplasia clefting syndrome, Karsch-Neugebaeur Syndrome, or Roberts Syndrome; presenting with cleft lip/palate, orodental anomalies or multisystemic involvement, respectively. Multidisciplinary care is often needed due to effects on feeding and growth. If prenatally diagnosed, a thorough assessment must be completed postnatally to rule out other syndromes or other organ system involvement. Parents must be about immediate postnatal care and diagnostic testing as well as long term prognosis.
References:
Gane, B. D., & Natarajan, P. (2016). Split-hand/feet malformation: A rare syndrome. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4943129/
Marcinowski, F. (n.d.). Roberts syndrome: Radiology Reference Article. Retrieved from https://radiopaedia.org/articles/roberts-syndrome?lang=us
Mathian, V. M., Sundaram, A. M., Karunakaran, R., Vijayaragavan, R., Vinod, S., & Rubini, R. (2012, August). An unusual occurrence of Karsch-Neugebauer syndrome with orodental anomalies. Retrieved August 2012, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3467867/
Split Hand/Split Foot Malformation. (2004). Retrieved from https://rarediseases.org/rare-diseases/split-handsplit-foot-malformation/