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Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the skull (craniosynostosis), which affects the shape of the head and face. The syndrome includes abnormalities of the hands and feet, such as wide and deviated thumbs and big toes.
Familial exudative vitreoretinopathy (FEVR, pronounced as fever) is a genetic disorder affecting the growth and development of blood vessels in the retina of the eye. This disease can lead to visual impairment and sometimes complete blindness in one or both eyes. FEVR is characterized by incomplete vascularization of the peripheral retina.
Medical genetics. Nevoid basal-cell carcinoma syndrome (NBCCS) is a rare inherited medical condition involving defects within multiple body systems such as the skin, nervous system, eyes, endocrine system, and bones. [1] People with NBCCS are prone to developing various cancers, including a common and usually non-life-threatening form of non ...
Achondroplasia. Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. [3] It is the most common cause of dwarfism [4] and affects about 1 in 27,500 people. [3] In those with the condition, the arms and legs are short, while the torso is typically of normal length. [3]
Specialty. Hematology. X-linked severe combined immunodeficiency (X-SCID) is an immunodeficiency disorder in which the body produces very few T cells and NK cells. In the absence of T cell help, B cells become defective. [1] It is an X-linked recessive inheritance trait, stemming from a mutated (abnormal) version of the IL2RG gene located on ...
Hypochondroplasia is autosomal dominant in inheritance. Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromelia [3] and a head that appears large in comparison with the underdeveloped ...
Neurology. Refsum disease is an autosomal recessive [5] neurological disease that results in the over-accumulation of phytanic acid in cells and tissues. It is one of several disorders named after Norwegian neurologist Sigvald Bernhard Refsum (1907–1991). [6][7] Refsum disease typically is adolescent onset and is diagnosed by above average ...
CHICAGO — Chicago Blackhawks captain Jonathan Toews missed the 2020 NHL season due to an illness that some say affects about a quarter of the population, yet isn’t commonly discussed and ...