Introduction to Mesomelic Dwarfism Cleft Palate Camptodactyly
Reardon-Hall-Slaney syndrome‚ also known as mesomelic dwarfism-cleft palate-camptodactyly‚ is a rare genetic disorder characterized by mesomelic limb shortening and bowing‚ finger camptodactyly‚ skin dimpling‚ retrognathia‚ and mandibular hypoplasia.
Description of Reardon-Hall-Slaney Syndrome
Reardon-Hall-Slaney syndrome‚ also known as mesomelic dwarfism-cleft palate-camptodactyly‚ is a rare genetic disorder characterized by mesomelic limb shortening and bowing‚ finger camptodactyly‚ skin dimpling‚ retrognathia‚ and mandibular hypoplasia. Only 2 cases of this syndrome have been described in medical literature‚ both of those cases being a brother and sister who were born to consanguineous parents. The syndrome is also known by various medical terms such as Langer mesomelic dysplasia‚ Reinhardt-Pfeiffer type of mesomelic dwarfism‚ and Kantaputra type of mesomelic dysplasia.
Symptoms and Characteristics
Common symptoms of Reardon-Hall-Slaney syndrome include mesomelic limb shortening and bowing‚ finger camptodactyly‚ skin dimpling‚ and retrognathia with mandibular hypoplasia.
Mesomelic Limb Shortening and Bowing
Mesomelic limb shortening and bowing are key characteristics of Reardon-Hall-Slaney syndrome. This is a visible feature where the middle portions of the limbs are notably shorter than normal‚ often accompanied by a bowed appearance.
Finger Camptodactyly
Finger camptodactyly is a distinctive characteristic of Reardon-Hall-Slaney syndrome. It refers to the abnormal flexion or bending of the fingers‚ often present in individuals with this condition.
Skin Dimpling
Skin dimpling is a notable symptom of Reardon-Hall-Slaney syndrome that can be observed in affected individuals. This refers to indentations or depressions in the skin‚ often occurring in specific areas of the body.
Retrognathia and Mandibular Hypoplasia
Retrognathia‚ which refers to a condition where the lower jaw is set back from its normal position‚ and mandibular hypoplasia‚ characterized by an underdeveloped lower jaw‚ are notable features of Reardon-Hall-Slaney syndrome.
Medical Terminology and Synonyms
The rare genetic disorder known as Reardon-Hall-Slaney syndrome is also referred to by various medical terms such as Langer mesomelic dysplasia‚ Reinhardt-Pfeiffer type of mesomelic dwarfism‚ and Kantaputra type of mesomelic dysplasia.
Langer Mesomelic Dysplasia
Langer Mesomelic Dysplasia is one of the medical terms used to describe Reardon-Hall-Slaney syndrome. This condition is characterized by mesomelic shortening and bowing of the limbs‚ often associated with additional symptoms such as camptodactyly‚ skin dimpling‚ cleft palate‚ retrognathia‚ and mandibular hypoplasia.
Mesomelic Dwarfism‚ Reinhardt-Pfeiffer Type
Mesomelic Dwarfism‚ Reinhardt-Pfeiffer Type is another term used to describe Reardon-Hall-Slaney syndrome. This rare genetic disorder features mesomelic limb shortening and bowing‚ finger camptodactyly‚ skin dimpling‚ retrognathia‚ and mandibular hypoplasia.
Mesomelic Dysplasia‚ Kantaputra Type
Mesomelic Dysplasia‚ Kantaputra Type is an alternate name for the Reardon-Hall-Slaney syndrome. This rare genetic condition is characterized by mesomelic limb shortening and bowing‚ finger camptodactyly‚ skin dimpling‚ retrognathia‚ and mandibular hypoplasia. It is also known as one of the medical terms for this syndrome‚ along with Langer Mesomelic Dysplasia and Reinhardt-Pfeiffer Type of Mesomelic Dwarfism.
Diagnosis and Genetic Information
Diagnosing Reardon-Hall-Slaney syndrome involves identifying mesomelic limb shortening‚ finger camptodactyly‚ skin dimpling‚ and retrognathia with mandibular hypoplasia. Genetic testing can confirm this rare genetic disorder.
MedGen UID and Concept ID
Mesomelic dwarfism-cleft palate-camptodactyly syndrome is identified by the MedGen UID 340833 and Concept ID C1855273‚ representing a rare genetic disorder characterized by mesomelic limb shortening‚ camptodactyly‚ skin dimpling‚ cleft palate‚ retrognathia‚ and mandibular hypoplasia.
Autosomal Recessive Transmission
Reardon-Hall-Slaney syndrome is inherited in an autosomal recessive manner‚ meaning that individuals with two copies of the mutated gene are typically affected. Genetic counseling and testing can help assess the risk of passing the condition to future generations.
Related Disorders
Reardon-Hall-Slaney syndrome is related to other rare genetic disorders such as campomelic syndrome and Van der Woude syndrome. Understanding these conditions can provide insight into the spectrum of genetic anomalies.
Campomelic Syndrome
Campomelic syndrome is a genetic disorder characterized by dwarfism‚ facial anomalies‚ including cleft palate‚ skeletal abnormalities‚ respiratory distress‚ generalized hypotonia‚ and neonatal death. Understanding this syndrome can provide insights into genetic anomalies similar to Reardon-Hall-Slaney syndrome.
Van der Woude Syndrome
Van der Woude Syndrome is a rare genetic disorder characterized by structural mouth deformities‚ such as cleft palate and lower lip pits. Understanding this syndrome can offer insights into similar craniofacial anomalies related to Reardon-Hall-Slaney syndrome.
Treatment and Support
Seeking clinical healthcare providers and specialists can offer valuable assistance in managing Reardon-Hall-Slaney syndrome. Additionally‚ engaging with community groups and advocacy organizations can provide support and guidance for individuals and families affected by this rare genetic disorder.
Clinical Healthcare Providers and Specialists
Accessing clinical healthcare providers and specialists with expertise in managing Reardon-Hall-Slaney syndrome can greatly benefit individuals diagnosed with this rare genetic disorder. These professionals have specialized knowledge and experience that can help in providing comprehensive care and support tailored to the specific needs associated with the condition.
Community Groups and Advocacy Organizations
Community groups and advocacy organizations dedicated to supporting individuals with Reardon-Hall-Slaney syndrome can offer valuable resources‚ information‚ and emotional support. Engaging with these groups can help individuals and families navigate the challenges associated with this rare genetic disorder and foster a sense of community and understanding.
Research and Resources
Clinical features and genetic tests play a significant role in diagnosing and managing Reardon-Hall-Slaney syndrome. Support groups and financial resources can provide valuable assistance to those affected.
Clinical Features and Genetic Tests
Clinical features and genetic tests play a crucial role in understanding and diagnosing Mesomelic Dwarfism Cleft Palate Camptodactyly syndrome. These tests aid in identifying specific symptoms and genetic markers that confirm the presence of the condition.
Support Groups and Financial Resources
Support groups and financial resources play a crucial role in providing assistance and guidance to individuals and families affected by Mesomelic Dwarfism Cleft Palate Camptodactyly syndrome. These organizations offer support‚ information‚ and resources to navigate the challenges associated with this rare genetic disorder‚ helping individuals access necessary care and services.
Rare Disease Information
Explore Mesomelic dwarfism cleft palate camptodactyly syndrome‚ its clinical features‚ genetic tests‚ resources‚ and support options. Stay informed about this rare genetic disorder.
Orpha Number and Definition
The Orpha number for Mesomelic dwarfism cleft palate camptodactyly syndrome is 2631. This rare genetic disorder is characterized by mesomelic limb shortening and bowing‚ finger camptodactyly‚ skin dimpling‚ retrognathia‚ and mandibular hypoplasia.
National Organization for Rare Disorders (NORD)
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It is important to note that the medical condition known as Reardon-Hall-Slaney syndrome‚ also identified as mesomelic dwarfism-cleft palate-camptodactyly‚ is a rare genetic disorder. This syndrome is recognized by specific characteristics such as mesomelic limb shortening and bowing‚ finger camptodactyly‚ skin dimpling‚ retrognathia‚ and mandibular hypoplasia. The syndrome is further described by various medical terms‚ such as Langer mesomelic dysplasia‚ Reinhardt-Pfeiffer type of mesomelic dwarfism‚ and Kantaputra type of mesomelic dysplasia. The genetic information related to this condition involves an autosomal recessive transmission‚ indicating that individuals affected typically carry two copies of the mutated gene. Diagnosis often involves identifying these distinctive features through genetic testing. Furthermore‚ understanding related disorders like campomelic syndrome and Van der Woude syndrome can provide insights into the complexities of genetic anomalies and associated conditions. It is essential for individuals and families impacted by this rare genetic disorder to seek specialized clinical healthcare providers and connect with community groups and advocacy organizations for comprehensive care and support. Additionally‚ research programs and resources‚ including clinical features and genetic tests‚ can further facilitate the better management and understanding of this syndrome. Remember that these resources‚ such as the Orpha number 2631‚ are crucial in providing accurate information‚ support‚ and guidance to those affected by mesomelic dwarfism-cleft palate-camptodactyly.