Name: Cohen syndrome | Acronym: COH1
Alt. names: Pepper syndrome | CHS1 | COH

Gene: VPS13B | MOI: Autosomal recessive | Mechanism of action: Loss of Function

No. of cases in DB: 3 | First reported in: 2003

Last updated on: 2023-02-28 16:41:18 by

OMIM: 216550

Orphanet: 193

MONDO: -

DOID: -

ClinGen:

A rare developmental defect during embryogenesis characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.[source:Orphanet]

Spectacles/eyeglasses are necessary. Intellectual deficiency requires special education and children often attend specialized schools. Speech therapy is important during the preschool years to foster speech development as well as physical therapy for motor delay, hypotonia and motor clumsiness. Respiratory infections should be treated with antibiotics. Granulocyte-colony stimulating factor (G-CSF) has been given to some patients to treat neutropenia. Ophthalmologic evaluation is needed to determine visual acuity. No effective treatment has been developed to halt the progression of the retinal disease. In later years, training for the visually impaired can be offered. Psychosocial support should be offered to patients and their families.[source:Orphanet]