Juberg-Marsidi syndrome (JMS) is a rare, ... At birth, they all had low growth characteristics, such as a small head circumference, a delayed bone age, and dysmorphic facial traits.

European Journal of Human Genetics - Wolf–Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.

Establishing a diagnosis of 22q11.2 deletion syndrome is important for both genetic counselling and long-term management of associated medical, surgical and psychiatric conditions.1, 3, 4 Clinicians ...

Sood et al., in 2018 presented a case of a child with pancreatic insufficiency and Johanson-Blizzard syndrome-like facial abnormalities.Fetal ultrasound revealed ambiguous genitalia in a 21-year ...

We described several novel neurobehavioral and neurodevelopmental disorders and identified the causative genes, e.g. PSMD12 in the Stankiewicz-Isidor syndrome (MIM 617516), BPTF in Neurodevelopmental ...

Moon Facies and Cushing Syndrome. It can be difficult to diagnose Cushing's syndrome. That's because signs and symptoms such as facial swelling can be caused by other conditions.

The most severe type of FASD — fetal alcohol syndrome — may cause distinctive facial features. These features may include small eye openings, a thin upper lip, and a flat nose bridge.

Key to diagnosing foetal alcohol syndrome is an assessment of certain facial features. A 3D facial scan is expensive but 2D images may offer a solution.

Ramsay Hunt syndrome can also cause hearing loss on the side of the face affected. As in Bieber’s case, it can also cause a weakness, facial droop or paralysis on the side of the face affected ...

Ramsay Hunt syndrome occurs when a shingles outbreak affects the facial nerve near one of your ears, per Mayo Clinic. The syndrome can also cause facial paralysis and hearing loss in the affected ear.

Justin Bieber showed that he has regained mobility in his face after being diagnosed with Ramsay Hunt syndrome. ... The syndrome can also cause facial paralysis and hearing loss in the affected ear.