Teebi–Shaltout syndrome: Difference between revisions

Latest revision as of 20:58, 15 December 2024

Teebi–Shaltout Syndrome

Teebi–Shaltout syndrome is a rare genetic disorder characterized by a distinct set of craniofacial and skeletal abnormalities. It was first described by Teebi and Shaltout in 1989. The syndrome is inherited in an autosomal recessive manner, meaning that two copies of the mutated gene, one from each parent, are required for an individual to be affected.

Clinical Features[edit]

Individuals with Teebi–Shaltout syndrome typically present with a combination of craniofacial dysmorphism, skeletal anomalies, and other systemic manifestations. The key clinical features include:

Craniofacial Dysmorphism: This includes hypertelorism (increased distance between the eyes), a broad nasal bridge, and a prominent forehead. The facial appearance is often described as coarse.
Skeletal Anomalies: Patients may exhibit short stature, brachydactyly (short fingers and toes), and other limb abnormalities.
Developmental Delay: Some individuals may experience mild to moderate developmental delays or intellectual disabilities.
Other Features: Additional features may include congenital heart defects, genitourinary anomalies, and hearing loss.

Genetics[edit]

Teebi–Shaltout syndrome is caused by mutations in a specific gene, although the exact gene responsible has not been definitively identified. The inheritance pattern is autosomal recessive, which means that both parents of an affected individual are typically carriers of one copy of the mutated gene but do not show symptoms of the disorder.

Diagnosis[edit]

Diagnosis of Teebi–Shaltout syndrome is primarily clinical, based on the characteristic features observed in the patient. Genetic testing may be used to confirm the diagnosis and to identify carrier status in family members.

Management[edit]

There is no cure for Teebi–Shaltout syndrome, and treatment is symptomatic and supportive. Management may involve:

Multidisciplinary Care: Involving specialists such as pediatricians, geneticists, orthopedic surgeons, and speech therapists.
Surgical Interventions: To address specific anomalies such as heart defects or skeletal deformities.
Developmental Support: Including physical, occupational, and speech therapy to assist with developmental delays.

Prognosis[edit]

The prognosis for individuals with Teebi–Shaltout syndrome varies depending on the severity of the symptoms and the presence of associated complications. Early intervention and supportive care can improve quality of life and developmental outcomes.

Also see[edit]

NIH genetic and rare disease info[edit]

NIH info on Teebi–Shaltout syndrome

Teebi–Shaltout syndrome is a rare disease.

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-'''Teebi–Shaltout Syndrome''' is a rare genetic disorder characterized by a range of physical and developmental anomalies. First identified by Teebi and Shaltout in 1989, the syndrome has since been the subject of limited but significant clinical research. It is important to note that due to the rarity of the condition, information and research are continually evolving.
+Teebi–Shaltout Syndrome
-==Symptoms and Characteristics==
+'''Teebi–Shaltout syndrome''' is a rare [[genetic disorder]] characterized by a distinct set of [[craniofacial]] and [[skeletal]] abnormalities. It was first described by Teebi and Shaltout in 1989. The syndrome is inherited in an [[autosomal recessive]] manner, meaning that two copies of the mutated gene, one from each parent, are required for an individual to be affected.
-Teebi–Shaltout Syndrome presents with a variety of symptoms, which can vary significantly among affected individuals. Common characteristics include craniofacial anomalies, such as a prominent forehead, hypertelorism (widely spaced eyes), and a flat nasal bridge. Other physical features may include microcephaly (small head size), short stature, and various skeletal abnormalities such as scoliosis (curvature of the spine).
-Developmental delay and intellectual disability are also frequently observed in individuals with Teebi–Shaltout Syndrome. These can range from mild to severe and often impact both cognitive and motor skills development.
+== Clinical Features ==
+Individuals with Teebi–Shaltout syndrome typically present with a combination of craniofacial dysmorphism, skeletal anomalies, and other systemic manifestations. The key clinical features include:
-==Genetics==
+* '''[[Craniofacial Dysmorphism]]''': This includes [[hypertelorism]] (increased distance between the eyes), a broad nasal bridge, and a prominent forehead. The facial appearance is often described as coarse.
-The genetic basis of Teebi–Shaltout Syndrome remains poorly understood, with researchers suggesting that it may follow an autosomal recessive pattern of inheritance. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the syndrome. However, the specific gene(s) involved have not been conclusively identified.
+* '''[[Skeletal Anomalies]]''': Patients may exhibit [[short stature]], [[brachydactyly]] (short fingers and toes), and other limb abnormalities.
+* '''[[Developmental Delay]]''': Some individuals may experience mild to moderate developmental delays or intellectual disabilities.
+* '''[[Other Features]]''': Additional features may include [[congenital heart defects]], [[genitourinary anomalies]], and [[hearing loss]].
-==Diagnosis==
+== Genetics ==
-Diagnosis of Teebi–Shaltout Syndrome is primarily based on clinical observation and the identification of characteristic features. Genetic testing may be helpful in confirming a diagnosis, but the lack of identified causative genes can make this challenging. Prenatal diagnosis is currently not available due to the limited understanding of the syndrome's genetic basis.
+Teebi–Shaltout syndrome is caused by mutations in a specific gene, although the exact gene responsible has not been definitively identified. The inheritance pattern is autosomal recessive, which means that both parents of an affected individual are typically carriers of one copy of the mutated gene but do not show symptoms of the disorder.
-==Treatment and Management==
+== Diagnosis ==
-There is no cure for Teebi–Shaltout Syndrome, and treatment is symptomatic and supportive. Management strategies may include physical therapy, special education programs, and other interventions aimed at addressing developmental delays. Surgical interventions may be necessary to correct certain physical anomalies, such as skeletal abnormalities.
+Diagnosis of Teebi–Shaltout syndrome is primarily clinical, based on the characteristic features observed in the patient. Genetic testing may be used to confirm the diagnosis and to identify carrier status in family members.
-==Prognosis==
+== Management ==
-The prognosis for individuals with Teebi–Shaltout Syndrome varies depending on the severity of symptoms and the effectiveness of management strategies. With appropriate support, many affected individuals can lead fulfilling lives, although they may face challenges related to their physical and developmental differences.
+There is no cure for Teebi–Shaltout syndrome, and treatment is symptomatic and supportive. Management may involve:
-==Research==
+* '''[[Multidisciplinary Care]]''': Involving specialists such as [[pediatricians]], [[geneticists]], [[orthopedic surgeons]], and [[speech therapists]].
-Research on Teebi–Shaltout Syndrome is ongoing, with scientists seeking to better understand its genetic causes and to develop more effective treatments. Participation in clinical trials and genetic registries can help advance knowledge about this rare condition.
+* '''[[Surgical Interventions]]''': To address specific anomalies such as heart defects or skeletal deformities.
+* '''[[Developmental Support]]''': Including physical, occupational, and speech therapy to assist with developmental delays.
+== Prognosis ==
+The prognosis for individuals with Teebi–Shaltout syndrome varies depending on the severity of the symptoms and the presence of associated complications. Early intervention and supportive care can improve quality of life and developmental outcomes.
+== Also see ==
+* [[Genetic disorders]]
+* [[Craniofacial syndromes]]
+* [[Skeletal dysplasia]]
+* [[Autosomal recessive disorders]]
+{{Genetic disorders}}
+{{Rare diseases}}
+{{Syndromes}}
+{{Disease-stub}}
 [[Category:Genetic disorders]]
 [[Category:Rare diseases]]
 [[Category:Syndromes]]
-{{disease-stub}}