Severe achondroplasia with developmental delay and acanthosis nigricans
Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SADDAN) is a rare genetic disorder characterized by short stature, severe skeletal abnormalities, developmental delay, and skin abnormalities.
Pronunciation
Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans: /sɪˈvɪər əˌkɒndrəˈpleɪʒə wɪð ˌdiːvəˈlɒpməntəl dɪˈleɪ ænd ˌækænˈθəʊsɪs nɪˈɡrɪkənz/
Etymology
The term "Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans" is derived from the following roots:
- "Severe" comes from the Latin word "severus" meaning strict or stern.
- "Achondroplasia" is derived from the Greek words "a" meaning without, "chondros" meaning cartilage, and "plasia" meaning formation.
- "Developmental Delay" refers to a delay in the development of a child in one or more of the five major areas: cognitive, social and emotional, speech and language, fine and gross motor skills, and activities of daily living.
- "Acanthosis Nigricans" is derived from the Greek word "akanthos" meaning thorn and the Latin word "niger" meaning black, referring to the thick, dark, velvety skin that characterizes this condition.
Related Terms
- Achondroplasia: A form of short-limbed dwarfism.
- Developmental Delay: A delay in the development of a child in one or more of the five major areas.
- Acanthosis Nigricans: A skin condition characterized by dark, thick, velvety skin.
- Genetic Disorder: A disease caused by abnormalities in an individual's genetic material.
Description
SADDAN is a severe variant of achondroplasia, the most common form of short-limbed dwarfism. Individuals with SADDAN have short stature, severe skeletal abnormalities, developmental delay, and skin abnormalities. The skeletal abnormalities include a disproportionately short stature primarily due to shortening of the proximal (near the torso) limbs, known as rhizomelic shortening. Other features include a large head with prominent forehead, underdevelopment of the midface, and a flattened nasal bridge. The skin abnormalities include acanthosis nigricans, a condition characterized by dark, thick, velvety skin in body folds and creases.
SADDAN is caused by mutations in the FGFR3 gene, which provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue.
External links
- Medical encyclopedia article on Severe achondroplasia with developmental delay and acanthosis nigricans
- Wikipedia's article - Severe achondroplasia with developmental delay and acanthosis nigricans
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