brachydactylia
Học thuậtThân thiện
Definition
Noun: A congenital condition characterized by abnormally short fingers and toes. This is typically a result of shortened bones (phalanges) or metacarpals/metatarsals in the digits.
Usage
The word is a medical/biological term used in clinical, anatomical, and genetic contexts to describe a specific physical anomaly. It is often discussed in relation to skeletal dysplasias or genetic syndromes.
Examples
- The pediatrician noted signs of brachydactylia during the newborn examination.
- Brachydactylia can be an isolated trait or part of a broader genetic condition.
- The study focused on the genetic mutation responsible for the inherited brachydactylia in the family.
Advanced Usage
- Brachydactylia Type D: Specifically refers to short, broad distal phalanges of the thumbs and big toes, sometimes called "club thumbs" or "stub thumbs."
- The term is often used in formal medical descriptions, such as: "The patient's phenotype included brachydactylia and proportionate short stature."
Variants and Related Words
- Brachydactyly (n.): This is the more common and preferred synonym in medical literature. The words are often used interchangeably, though is more frequent.
- Brachydactylous (adj.): Describing someone or something having abnormally short digits. (e.g., extremities).
Synonyms
- Short-digit syndrome: A more descriptive, non-technical synonym.
- Brachydactyly: The primary and most common synonym.
Antonyms
- Arachnodactyly: Abnormally long and slender fingers and toes.
- Dolichodactyly: Having long fingers.
Noun
- abnormal shortness of fingers and toes