GC: n
S: NORD (last access: 9 December 2025); NCBI (last access: 9 December 2025).
N: 1. The term “Dubowitz syndrome” is an eponym that owes its name to the British neurologist Victor Dubowitz (1931–), who first described this syndrome in 1965.
- Dubowitz (pn): The disorder was first discovered in a female child in 1965 by Victor Dubowitz. He described the disorder and proposed it was a phenotype of Boone’s syndrome. The syndrome was later identified and named by Grosse and Opitz.
- syndrome (n): “a number of symptoms occurring together,” 1540s, from medical Latin, from Greek syndrome“concurrence of symptoms, concourse of people,” from syndromos “place where several roads meet,” literally “a running together,” from syn- “with” (see syn-) + dromos “a running, course”.
2. This genetic disorder causes growth retardation both before and after birth. It is primarily diagnosed through the distinctive facial features of affected individuals, including a small triangular-shaped face with a high forehead and wide-set, slitted eyes. A number of other symptoms, most commonly irritation and itching of the skin (eczema), may be present in infants born with Dubowitz syndrome.
3. Dubowitz syndrome is passed on through an autosomal recessive pattern of inheritance. Autosomal means that the syndrome is not carried on a sex chromosome, while recessive means that both parents must carry the gene mutation in order for their child to have the disorder. Parents with one child affected by Dubowitz syndrome have a 25% chance that their next child will also be affected with the disease.
The specific gene mutation responsible for Dubowitz syndrome had not yet been identified.
4. Cultural Interrelation: We can mention the article published in the Belfast Telegraph, a British newspaper from Northern Ireland, on November 14, 2013, titled Niamh might look like a typical teen but her rare illness makes her one in 50 million.
S: 1. NCBI (last access: 9 December 2025); Etymonline (last access: 9 December 2025). 2 & 3. Encyclopedia.com (last access: 9 December 2025). 4. BelTel (last access: 9 December 2025).