Short stature, misaligned teeth and, facies: in a search for answers about her condition, Nurana Ataeva embarked on a journey with her chachi (aunt), all the way from Turkmenistan to the corridors of Apollo Indraprastha, New Delhi. 

Unfortunately, inadequate medical facilities in Turkmenistan remain a pivotal issue, particularly concerning the case of complex rare diseases, for which hardly any resources and specialists are available. Medical tourism i.e. traveling to countries like India, is therefore a preferred option. 

​

The local hospital in Turkmenistan had performed initial examinations, including x-rays, which indicated some concerns. The testing that she went through at Apollo was much more extensive. Consequently, a whole exome sequencing revealed a heterozygous variant of uncertain significance in the MAP3K7 gene, associated with Cardiospondylocarpofacial syndrome (CSCF) and frontometaphyseal dysplasia (FMD). The clinical manifestation, as seen in Nurana’s features, correlated strongly with CSCF, thus presenting a definitive medical diagnosis.

​

For Noorana's family, the reality of her condition was a mixture of relief and new concerns. Knowing the diagnosis allowed them to understand the root of her issues, but it also highlighted the lack of definitive treatments available. Growth hormone therapy was suggested as a potential aid for her short stature, but it required careful monitoring and assessment by a pediatric endocrinologist.

​

The diagnosis of MAP3K7-related Cardiospondylocarpofacial syndrome also brought significant genetic counseling recommendations. As an autosomal dominant disorder, only a single copy of the abnormal gene is needed to pass the disorder on. If the abnormal gene held by Nurana was a sporadic variation, then it did not pose any threat of recurrence in the same couple. However, the gene may have been held by one of the parents, and therefore parental testing was recommended. Thus, knowing the genetic risks helps in planning for the future and potential siblings.​​​​​