Dysmorphology Diseases

— Rhizomelic Chondrodysplasia Punctata Type 3 (RCDP3) is a rare genetic disorder caused by mutations in the AGPS gene. This condition is characterized by shortening of the bones in the arms and legs, known as rhizomelia, as well as specific bone abnormalities visible on X-rays, referred to as punctate calcifications. Individuals with RCDP3 may also […]

Symptoms of PEX5 Gene Rhizomelic Chondrodysplasia Punctata Type 5 Genetic Test Rhizomelic Chondrodysplasia Punctata (RCDP) type 5 is a rare genetic disorder that affects multiple systems in the body, including the skeletal system, eyes, and brain. This condition is caused by mutations in the PEX5 gene, which plays a crucial role in the normal functioning […]

Symptoms of WASHC5 Gene Ritscher-Schinzel Syndrome Type 1 Genetic Test Ritscher-Schinzel Syndrome Type 1, also known as Cranio-cerebello-cardiac (3C) syndrome, is a rare genetic disorder characterized by distinctive craniofacial features, cerebellar abnormalities, and congenital heart defects. The WASHC5 gene, previously known as KIAA0196, has been identified as a crucial gene associated with this syndrome. Understanding […]

Symptoms of HNRNPU Gene RNA Processing Related Disorders Genetic Test The HNRNPU gene plays a critical role in RNA processing, which is essential for the proper functioning of cells in the human body. Mutations in the HNRNPU gene can lead to a variety of neurological and developmental disorders. Recognizing the symptoms associated with HNRNPU gene […]

Symptoms of ESCO2 Gene Roberts Syndrome Genetic Test Roberts Syndrome, a rare genetic disorder, has been a subject of study and concern within the medical community due to its significant impact on individuals’ lives. It is caused by mutations in the ESCO2 gene, which plays a critical role in the development of bones, limbs, and […]

Robinow Syndrome is a rare genetic disorder that affects the development of various parts of the body. It is primarily characterized by distinctive facial features, skeletal abnormalities, and in some cases, heart and genital defects. The syndrome can be inherited in an autosomal dominant or autosomal recessive pattern. The focus of this article is on […]

Symptoms of DVL1 Gene Robinow Syndrome Autosomal Dominant Type 2 Robinow Syndrome is a rare genetic disorder characterized by short stature, distinctive facial features, and skeletal anomalies. The autosomal dominant type 2 variant, caused by mutations in the DVL1 gene, presents a unique set of challenges and symptoms for those affected. Understanding these symptoms is […]

In the realm of medical genetics, understanding the implications of specific gene mutations is crucial for diagnosing and managing various conditions. One such condition, Robinow Syndrome, is a rare genetic disorder that affects the development of the body’s bones and other structures. This disorder can be particularly challenging to diagnose due to the variability in […]

In the realm of genetic diagnostics and personalized medicine, understanding the nuances of specific genetic conditions is paramount. One such condition is Robinow-Sorauf Syndrome, a rare genetic disorder that has significant implications for those affected. At DNA Labs UAE, we are committed to providing comprehensive genetic testing services, including the TWIST1 Gene Robinow-Sorauf Syndrome Genetic […]

— Rubinstein-Taybi Syndrome (RTS) is a rare genetic disorder that affects many parts of the body. Individuals with this condition often have distinctive facial features, broad thumbs and toes, short stature, and moderate to severe intellectual disability. The syndrome is primarily caused by mutations in the CREBBP gene, although mutations in the EP300 gene can […]