What is Nicolaides-Baraitser syndrome?
In people with Nicolaides-Baraitser syndrome, a lack of subcutaneous fat in the hands makes the finger joints appear larger than normal. Over time, the fingertips become broad and oval shaped. Additionally, there is a wide gap between the first and second toes (known as a sandal gap ).
How many people have Nicolaides-Baraitser syndrome?
Nicolaides–Baraitser syndrome (NCBRS) is a rare genetic condition caused by de novo missense mutations in the SMARCA2 gene and has only been reported in fewer than 200 cases worldwide. NCBRS is a distinct condition and well recognizable once the symptoms have been identified.
What is nicolitis?
Nicolaides-Baraitser syndrome (NCBRS) is typically characterized by intellectual disability , seizures , short stature , sparse hair, distinctive facial features, short fingers and toes ( brachydactyly ), and prominent joints of the fingers and toes (called interphalangeal joints).
What is Coffin Siris?
Coffin-Siris syndrome (CSS) is a rare genetic disorder that may be evident at birth (congenital). The disorder may be characterized by abnormalities of the head and facial (craniofacial) area, resulting in a coarse facial appearance.
How do you pronounce Nicolaides?
- Phonetic spelling of Nicolaides. Ni-co-laides. Nic-ol-aides.
- Examples of in a sentence. Australian writer Harry Nicolaides jailed for three years for insulting Thai Royal Family. Former Junta Leader Nicolaides Dies.
- Translations of Nicolaides. Chinese : 德斯 Russian : Николаидес
What is the life expectancy of a person with Cornelia de Lange syndrome?
Life expectancy is relatively normal for people with Cornelia de Lange syndrome and most affected children live well into adulthood. For example, one article mentioned a woman with Cornelia de Lange syndrome who lived to age 61 and an affected man who lived to age 54.
Is there a cure for Cornelia de Lange syndrome?
Specific therapies for the treatment of CdLS are symptomatic and supportive. In some children, surgery may be performed to help correct cleft palate, cardiac defects and/or diaphragmatic hernias. Plastic surgery may be helpful in reducing excessive hair.
What are the features of Nicolaides Baraitser syndrome?
[1] Nicolaides-Baraitser syndrome (NCBRS) is typically characterized by intellectual disability, seizures, short stature, sparse hair, distinctive facial features, short fingers and toes ( brachydactyly ), and prominent joints of the fingers and toes (called interphalangeal joints). Some features of the condition may vary among affected people.
What does dr.nicolaides do for a living?
Dr. Nicolaides is devoted to ensuring the longevity of his patients’ health and developing long-lasting relationships with them. He takes his time to understand symptoms and provide correct diagnoses to ensure the continued health of all his patients. I have been going to Dr. Nicolaides for years.
Where did Alexander Nicolaides go to medical school?
He completed his internship in internal medicine at Montefiore Medical Center. He then completed his residency at New York University, where he was the chief resident. Dr. Nicolaides is affiliated with New York-Presbyterian Hospital / Columbia University Medical Center, Saint Luke’s-Roosevelt Hospital Center, and the Mount Sinai Hospital of Queens.