Baker-Gordon Syndrome

Clinical Characteristics

Ocular Features:

Poor visual acuity described as central in origin with poor eye contact. Periorbital anomalies of low-set eyebrows and epicanthal folds are common. The eyes have been described as "almond-shaped". Strabismus and nystagmus are commonly present.

Systemic Features:

The facial features ae described as "fine" with a short nose and a thin upper lip. The forehead is unusually high.

There is general developmental delay with impaired intellectual development, delayed or absent walking, and behavioral psychiatric manifestations such as stereotypic and unpredictable outbursts. There are often involuntary and hyperkinetic movements with dystonia, dyskinesia, ataxia and choreoathetosis. The EEG is often abnormal although seizures have not been reported.

Genetics

De novo heterozygous mutations in the SYT1 [1] gene (12q21.2) have been associated with this condition.

Treatment

Treatment Options:

No treatment has been reported.

References

Article Title:

SYT1-associated neurodevelopmental disorder: a case series [2]

Baker K, Gordon SL, Melland H, Bumbak F, Scott DJ, Jiang TJ, Owen D, Turner BJ, Boyd SG, Rossi M, Al-Raqad M, Elpeleg O, Peck D, Mancini GMS, Wilke M, Zollino M, Marangi G, Weigand H, Borggraefe I, Haack T, Stark Z, Sadedin S; Broad Center for Mendelian Genomics, Tan TY, Jiang Y, Gibbs RA, Ellingwood S, Amaral M, Kelley W, Kurian MA, Cousin MA, Raymond FL. SYT1-associated neurodevelopmental disorder: a case series. Brain. 2018 Sep 1;141(9):2576-2591.

PubMed ID:

30107533

Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling [3]

Baker K, Gordon SL, Grozeva D, van Kogelenberg M, Roberts NY, Pike M, Blair E, Hurles ME, Chong WK, Baldeweg T, Kurian MA, Boyd SG, Cousin MA, Raymond FL. Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. J Clin Invest. 2015 Apr;125(4):1670-8.

PubMed ID:

25705886