SNP Shot: Genomic Insights

Cranioectodermal dysplasia is a multi-system disorder impacting various body parts. Key characteristics include bone malformations and irregular development of ectodermal tissues like skin, hair, nails, and teeth. The symptoms and their severity differ significantly between individuals, even within the same family.

Individuals with cranioectodermal dysplasia frequently exhibit distinctive skull and facial features. A prominent forehead (frontal bossing) and an elongated head (dolichocephaly) are commonly observed, resulting from premature fusion of specific skull bones (sagittal craniosynostosis). Facial abnormalities can include low-set and/or posteriorly rotated ears, increased distance between the inner corners of the eyes (telecanthus), and upward- or downward-slanting eyelids (upslanting or downslanting palpebral fissures).

The condition also affects skeletal development beyond the skull. Issues with the long bones of the arms and legs (metaphyseal dysplasia) can cause shortened limbs and stature. Short fingers (brachydactyly) are also a frequent feature. Some individuals experience short ribs and a constricted rib cage, potentially causing respiratory difficulties, particularly in newborns.

Defective ectodermal tissue development in cranioectodermal dysplasia results in sparse hair, missing or underdeveloped teeth, short nails, and skin laxity.

Cranioectodermal dysplasia can extend beyond ectodermal tissues and bones, affecting other organ systems. A common complication is nephronophthisis, a kidney disorder that can progress to end-stage renal disease, a life-threatening kidney failure. Liver, heart, and eye abnormalities can also occur.

Inheritance:

Cranioectodermal dysplasia follows an autosomal recessive inheritance pattern. This means that an affected person must inherit a mutated copy of the responsible gene from each parent. While both parents carry one copy of the mutated gene, they usually do not exhibit symptoms of the disorder.