Familial Ectrodactyly Syndrome in a Nigerian Child: A Case Report

Abstract

Ectrodactyly, also known as Split-Hand/Split-Foot Malformation (SHFM) is a rare genetic condition characterized by defects of the central elements of the autopod. It has a prevalence of 1:10,000-1:90,000 worldwide. The X-linked and autosomal dominant types have been described. It can occur as an isolated malformation or in combination with other anomalies, such as tibial aplasia, craniofacial defects, and genitourinary abnormalities. Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) is an example of ectrodactyly syndrome accompanied by multiple organ defects. Ectrodactyly has been reported in Africa, especially in several families in remote areas of central Africa but there has not been any published work on ectrodactyly in Nigeria. A baby was born in Ilorin, North Central Zone of Nigeria, with an uneventful prenatal and delivery history but was noticed to have malformation of the two hands and the two lower limbs at birth which are replica of the father's malformation. We present this case to highlight familial ectrodactyly in Nigeria and prepare us to improve upon simple prenatal diagnosis and management of the challenges associated with patients with congenital malformation in Nigeria and other developing countries.

Cultural beliefs on disease causation in the Philippines: challenge and implications in genetic counseling

“…In the perspective of medical genetics, their physical features correspond to ectrodactyly which is also known as split-hand/splitfoot malformation. It is a genetic congenital anomaly where all or part of one or more fingers is absent, and the hands and feet of people with this condition are described as "claw-like" (Durowaye et al 2011). Another example of a disorder associated with lihi is lamellar ichthyosis.…”

Ectrodactyly-Ectodermal Dysplasia Clefting Syndrome: A Case Report of Its Dental Management with 2 Years Follow-Up

“…It was first documented by Eckoldt and Martens in 1804 [2] and the term EEC syndrome was coined by Rudiger et al in 1970 [1]. Ectrodactyly or split hand/split foot malformation (SHFM), by strict definition, is the congenital absence of central rays of limbs [3]. It was initially documented in 1770 among a tribe of Guiana Indians [3].…”

“…Ectrodactyly or split hand/split foot malformation (SHFM), by strict definition, is the congenital absence of central rays of limbs [3]. It was initially documented in 1770 among a tribe of Guiana Indians [3]. It is often found with syndactyly [4].…”

Morphological Variations of an Atypical Cleft Hand: A Cadaveric Case Report

“…4 Cleft hand is classified into two types; typical cleft hand, characterized by a V-shaped cleft, and atypical cleft hand, characterized by a U-shaped cleft. 5 The typical cleft hand affects 1 in 90 thousand births, and 1 in 20 thousand from the general population. On other hand, the atypical cleft hand affects 1 in 150 thousand births, and 1 in 200 thousand in the general population.…”