Introduction to Orofaciodigital Syndrome Shashi Type
Orofaciodigital syndrome Shashi type is a rare disorder characterized by orofacial anomalies, central polydactyly, and cerebellar dysgenesis. The syndrome was first reported in an endogamic gypsy colony of Hungary.
Overview of Orofaciodigital Syndrome 1 (OFD1)
Orofaciodigital syndrome 1 (OFD1)٫ also known as Papillon-Léage and Psaume syndrome٫ is an X-linked congenital disorder characterized by malformations such as oral and facial features٫ central nervous system anomalies٫ and polydactyly. OFD1 predominantly affects females and presents with a range of distinctive clinical manifestations٫ including abnormalities in the mouth٫ teeth٫ and facial structures. Genetic mutations in the OFD1 gene play a crucial role in the development and presentation of this syndrome.
Clinical Features of Orofaciodigital Syndrome Shashi Type
There is no specific information available online about the clinical features of Orofaciodigital Syndrome Shashi Type.
Characteristics of Orofaciodigital Syndrome Type VI (OFDS-VI)
Orofaciodigital Syndrome Type VI (OFDS-VI) is a very rare autosomal recessive disorder distinguished by cerebellar dysgenesis and central polydactyly with y-shaped central metacarpals. The syndrome was first reported in an endogamic gypsy colony of Hungary and is currently classified as one of the Joubert syndrome group, sharing characteristics such as cerebellar abnormalities and metacarpal anomalies.
Genetics of Orofaciodigital Syndrome Shashi Type
There is no specific information available online about the genetics of Orofaciodigital Syndrome Shashi Type.
Genetic Mutations in Orofaciodigital Syndrome Type 6
Orofaciodigital Syndrome Type 6 (OFDS-VI), known as Varadi syndrome, is caused by genetic mutations or pathogenic variants. These mutations can be hereditary or occur randomly during cell division. OFDS-VI is characterized by cerebellar dysgenesis, central polydactyly with y-shaped central metacarpals, and is distinguished from other forms of orofaciodigital syndromes by these specific genetic abnormalities.
Distinguishing Features of Orofaciodigital Syndrome Shashi Type
There is no specific information available online regarding the distinguishing features of Orofaciodigital Syndrome Shashi Type.
Identification of Type VI from Other Forms of OFDS
Orofaciodigital Syndrome Type VI (OFDS-VI), known as Varadi syndrome, can be identified from other forms of orofaciodigital syndromes by distinct characteristics such as cerebellar dysgenesis, central polydactyly with y-shaped central metacarpals, and metacarpal abnormalities. The presence of cerebellar abnormalities and the molar tooth sign on brain MRIs can help differentiate Type VI from other forms of OFDS.
Diagnosis and Management of Orofaciodigital Syndrome Shashi Type
There is no specific information available online regarding the diagnosis and management of Orofaciodigital Syndrome Shashi Type.
Association of Phenotypes with Orofaciodigital Syndrome, Shashi Type
The phenotypes associated with Orofaciodigital Syndrome, Shashi Type, exhibit a range of physical and intellectual health effects. These include manifestations related to oral cavity abnormalities, facial features, as well as digital malformations. The syndrome’s impact on individuals can vary in severity, affecting various aspects of their overall health.
Research and Treatment Advances for Orofaciodigital Syndrome Shashi Type
Deletion of RBMX RGG/RG motif in Shashi-XLID Syndrome has been linked to neuronal differentiation defects. Research continues to explore potential treatments and interventions for Orofaciodigital Syndrome Shashi Type.
Deletion of RBMX RGG/RG motif in Shashi-XLID Syndrome
Deletion of RBMX RGG/RG motif in Shashi-XLID Syndrome is associated with aberrant p53 activation and neuronal differentiation defects. This deletion has implications for research and potential treatments in the context of Orofaciodigital Syndrome Shashi Type.
Impact of Orofaciodigital Syndrome Shashi Type on Patients
Effects of Orofaciodigital Syndrome Type 14 on physical and intellectual health can vary, causing a range of manifestations impacting patients’ overall well-being.
Effects of Orofaciodigital Syndrome Type 14 on Physical and Intellectual Health
Orofaciodigital Syndrome Type 14٫ a rare genetic condition٫ can lead to a range of physical and intellectual disabilities due to its autosomal recessive inheritance pattern. The condition manifests as a combination of oral٫ facial٫ and digital malformations along with varying levels of mental retardation٫ impacting patients’ overall health and well-being.