Introduction
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair‚ skin and teeth anomalies‚ facial dysmorphism with cleft lip and palate‚ cutaneous syndactyly and‚ in some cases‚ intellectual disability. The prevalence is unknown.
Zlotogora-Ogur syndrome is an ectodermal dysplasia with characteristics of hair‚ skin‚ and teeth anomalies‚ facial dysmorphism with cleft lip and palate‚ cutaneous syndactyly‚ and sometimes intellectual disability. It is relatively rare‚ with less than 50 cases reported so far. The syndrome is caused by mutations in the PVRL1 gene on chromosome 11q23-q24. Also known as CLPED1‚ this syndrome can manifest itself as cleft lip/palate‚ hidrotic ectodermal dysplasia‚ developmental defects‚ and‚ in some instances‚ mental retardation.
Clinical Presentation
Zlotogora-Ogur syndrome manifests with hair‚ skin‚ and teeth anomalies‚ facial dysmorphism‚ cleft lip and palate‚ cutaneous syndactyly‚ and occasionally intellectual disability. Less than 50 cases have been reported.
Characteristics and Symptoms
Zlotogora-Ogur syndrome is an ectodermal dysplasia with hair‚ skin‚ and teeth anomalies‚ facial dysmorphism with cleft lip and palate‚ cutaneous syndactyly‚ and sometimes intellectual disability. Inheritance is autosomal recessive‚ and it is relatively rare‚ with under 50 cases reported. Mutations in the PVRL1 gene on chromosome 11q23-q24 play a crucial role in causing the syndrome‚ affecting cell adhesion and possibly interacting with herpesviruses. Affected individuals may also exhibit skeletal and developmental defects in some cases.
Genetics and Inheritance
Zlotogora-Ogur syndrome is inherited in an autosomal recessive manner. The syndrome is caused by mutations in the PVRL1 gene on chromosome 11q23-q24‚ playing a crucial role in cell adhesion and possibly interacting with herpesviruses.
Overview of Zlotogora Syndrome
Zlotogora-Ogur syndrome‚ also referred to as CLPED1‚ is a rare ectodermal dysplasia characterized by hair‚ skin‚ and teeth anomalies‚ facial dysmorphism with cleft lip and palate‚ cutaneous syndactyly‚ and in some cases intellectual disability. The syndrome is caused by mutations in the PVRL1 gene on chromosome 11q23-q24‚ leading to cellular adhesion issues and potential interactions with herpesviruses.
Diagnosis and Treatment
Diagnosis of Zlotogora-Ogur syndrome involves clinical evaluation‚ genetic testing to identify mutations in the PVRL1 gene‚ and management may encompass interdisciplinary care addressing the specific symptoms in affected individuals.
Diagnostic Approaches and Management
Diagnosis of Zlotogora-Ogur syndrome involves clinical evaluation for characteristic features such as hair‚ skin‚ and teeth anomalies‚ cleft lip and palate‚ as well as genetic testing to identify mutations in the PVRL1 gene on chromosome 11q23-q24. The management of individuals with Zlotogora-Ogur syndrome may require a multidisciplinary approach to address the specific symptoms they present‚ which could include interventions related to cutaneous syndactyly‚ intellectual disability‚ and other associated conditions.
Epidemiology
The prevalence of Zlotogora-Ogur syndrome is unknown‚ with fewer than 50 reported cases to date. It is relatively rare‚ characterized by a combination of hair‚ skin‚ and teeth anomalies‚ cleft lip and palate‚ cutaneous syndactyly‚ and sometimes intellectual disability.
Prevalence and Reported Cases
The prevalence of Zlotogora-Ogur syndrome is unknown‚ with fewer than 50 reported cases described in the literature so far. This relatively rare syndrome is characterized by a combination of hair‚ skin‚ and teeth anomalies‚ facial dysmorphism‚ cutaneous syndactyly‚ and occasional intellectual disability.
Clinical Healthcare providers who have shown interest or specialized in Zlotogora-Ogur syndrome may have received grants‚ written articles‚ conducted trials‚ or participated in relevant organizations‚ making them knowledgeable about the condition.
Specialists and Grants
Specialists who have shown interest or specialized in Zlotogora-Ogur syndrome may have received grants‚ conducted research‚ authored articles‚ participated in clinical trials‚ or collaborated with relevant organizations‚ enhancing their expertise in managing this rare condition.
Specialists with expertise in Zlotogora-Ogur syndrome may have received grants‚ conducted trials‚ and published valuable research on the condition‚ enhancing their knowledge and skills in managing this rare disease.