[MIM 216 550]

(Norio syndrome, Pepper syndrome)

Rare. More common in the population of Finnish origin and among the Amish. Autosomal recessive transmission of a mutation of the VPS13B (or COH1) gene (8q22-23) coding for a membrane protein of the Golgi apparatus.

The clinical presentation varies:

• neonatal period: hypotonia, feeding difficulties, sometimes neutropenia; microcephaly, developmental delay, hyperlaxity of the ligaments
• later: short stature, small hands and feet with tapered fingers, truncal obesity (adolescence)
• around 4-5 years of age, appearance of the characteristic facial dysmorphism: strongly arched or wave-shaped eyelids, thick hair with a low implantation, short philtrum, long and thick eyelashes, a hooked nose and prominent upper incisors
• speech delay
• frequent infections likely related to neutropenia
• sociable and playful behavior
• sometimes kyphoscoliosis
• ocular problems:  signs of chorioretinal dystrophy appear at adolescence. Hemeralopia and progressive deterioration of the visual field. Patients over 45 years of age suffer from severe chorioretinal atrophy and posterior subcapsular cataracts.

The clinical presentation is similar to Prader-Willi syndrome until around 4 years of age.

The Mirhosseini-Holmes-Watson syndrome  [MIM 268 050] is considered a variant of Cohen syndrome.

Anesthetic implications: 

risk of difficult intubation, short stature

References:

Updated: January 2023