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Practically every genetic disorder that includes physical characteristics affects facial features. The term is dysmorphic facial features genetic disorders.

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12y ago

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What syndrome is a genetic disorder that includes charactristic facial features some degree of retardation vision disorders and other health problems?

Down Syndrome


What is wolfhauser syndrome?

Wolf-Hirschhorn syndrome is a very rare genetic disorder. The most common symptom is malformation of the facial features and they are short statured and may have malformations of the organs.


What is a genetic abnormality that is associated with a characteristic facial appearance cognitive impairment and physical abnormalities such as heart valve disease?

Down syndrome is a genetic abnormality caused by the presence of an extra copy of chromosome 21. People with Down syndrome often have characteristic facial features, cognitive impairment, and may also have physical abnormalities, such as heart valve disease.


What is the icd9 code for Williams Syndrome?

The ICD-9 code for Williams Syndrome is 758.1. This code is used to classify the genetic disorder characterized by cardiovascular disease, distinctive facial features, and developmental delays. Williams Syndrome is a rare condition caused by a deletion of genetic material on chromosome 7.


What syndrome is a genetic disorder that includes characteristics facial features some degree of mental retardation vision disorders and other health problems?

The syndrome you are describing is likely Down syndrome, also known as Trisomy 21. It is a genetic disorder caused by the presence of an extra chromosome 21, leading to distinct facial features, varying degrees of intellectual disability, vision problems, and other health issues. Individuals with Down syndrome may also experience congenital heart defects and other medical conditions. Early intervention and supportive therapies can help improve quality of life and development outcomes for those affected.


Why do people have different face features?

People have differences in the genes that map facial features. This is why identical twins (twins with the same genetic code) have the same facial features (disregarding non-genetic factors such as scars).


How did the Jackson-Weiss Syndrome get its name?

Jackson-Weiss Syndrome is named after the researchers who first identified and described the condition, Drs. Robert Jackson and Jill Weiss, in the 1970s. The syndrome is characterized by craniosynostosis, facial dysmorphism, and foot abnormalities. Their work helped establish the genetic basis and clinical features of the syndrome, leading to its naming in honor of their contributions to understanding this rare genetic disorder.


Are there any celebs with stickler syndrome?

Yes, actress Bella Thorne has been open about her diagnosis of Stickler syndrome. Stickler syndrome is a rare genetic disorder that affects connective tissues in the body, leading to various symptoms such as joint problems, vision issues, and facial features characteristic of the syndrome.


What Is Gambaray syndrome?

Gambaray syndrome is a rare genetic disorder characterized by developmental delays, intellectual disabilities, and distinctive facial features. It can also involve physical anomalies and various health issues. The syndrome is associated with mutations in specific genes, and its symptoms can vary widely among affected individuals. Diagnosis is typically made through genetic testing and clinical evaluation.


Are there distinct facial features in Ehler Danlos type three?

No, there are no distinctive facial features recognized in Ehler Danlos Hypermobility Syndrome (type three.) Recognizable facial features, such as are associated with Marfan's Syndrome, another disorder of the connective tissues, might be useful for diagnosis. Perhaps the nearest thing to a distinct feature for EDS is soft, velvety skin.


What is genetic variation associated with characteristic facial appearance learning disabilities and physical abnormalities?

Genetic variation associated with characteristic facial appearances, learning disabilities, and physical abnormalities often involves mutations or alterations in specific genes that influence development. Conditions such as Down syndrome or Williams syndrome exemplify this, where distinct facial features and cognitive challenges arise from chromosomal abnormalities or single-gene mutations. These variations can disrupt normal developmental pathways, leading to the observable traits and disabilities associated with these syndromes. Understanding these genetic factors is crucial for diagnosis and potential interventions.


When and who discovered Marshall syndrome?

Marshall syndrome was first described in 1971 by Dr. John Marshall and his colleagues. It is a rare genetic disorder characterized by various features, including distinctive facial traits, skeletal abnormalities, and hearing loss. The syndrome is caused by mutations in the B4GALT7 gene, which affects glycosylation processes in the body.