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Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans. Some of the signs and symptoms of Crouzonodermoskeletal syndrome are similar to those seen with Crouzon syndrome.
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]
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is a very rare genetic disorder. This disorder is one that affects bone growth and is characterized by skeletal, brain, and skin abnormalities. [3] [4] Those affected by the disorder are severely short in height and commonly possess shorter arms and legs.
Acanthosis nigricans. Acanthosis nigricans is a medical sign characterised by brown-to-black, poorly defined, velvety hyperpigmentation of the skin. [1] It is usually found in body folds, [2] such as the posterior and lateral folds of the neck, the armpits, groin, navel, forehead and other areas. [1]
Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Because the branchial arches are important developmental features in a growing embryo, disturbances in their development ...
Clair Ann Francomano was born to Mrs. and Charles J. Francomano, a general practitioner. [2] [3] She attended Roosevelt High School in Yonkers, New York and participated in programs at the National Institutes of Health and the Jackson Laboratory in Bar Harbor, Maine as a high school student. [3] She earned her undergraduate degree from Yale ...
very rare, only 2 cases known to medical literature. Acanthosis nigricans-muscle cramps-acral enlargement syndrome, also known as Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome is an extremely rare genetic disorder which is characterized by the appearance of acanthosis nigricans, insulin resistance, muscle ...
The HAIR-AN syndrome is a rare subtype of polycystic ovary syndrome (PCOS) characterized by hyperandrogenism (HA), insulin resistance (IR) and acanthosis nigricans (AN). The symptoms of the HAIR-AN syndrome are largely due to severe insulin resistance, which can be secondary to blocking antibodies against the insulin receptor or genetically absent/reduced insulin receptor number/function.
Thanatophoric dysplasia is a lethal skeletal dysplasia divided into two subtypes. Type I is characterized by extreme rhizomelia, bowed long bones, narrow thorax, a relatively large head, normal trunk length and absent cloverleaf skull. The spine shows platyspondyly, the cranium has a short base, and, frequently, the foramen magnum is decreased ...
Apert syndrome: an abnormal skull shape, small upper jaw, and fusion of the fingers and toes.; Baller-Gerold syndrome: craniosynostosis with radial aplasia.; Beare-Stevenson syndrome: craniosynostosis with cutis gyrata, acanthosis nigricans, and digit anomalies.
