What is Peho syndrome?
Peho syndrome is a rare genetic syndrome, also referred to as a neurodegenerative disorder. It has mainly been identified in families in Finland, with a few cases reported in a few other European countries. Life expectancy for individuals with the condition is less than 15 years.
This syndrome is also known as:
Infantile cerebello-optic atrophy; Infantile Cerebellooptic Atrophy; PEHO syndrome; Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic Atrophy
What gene changes cause Peho syndrome?
The cause of the syndrome has been linked to mutations in the ZNHIT3 gene. The syndrome is inherited in an autosomal recessive pattern.
Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
What are the main symptoms of Peho syndrome?
The main symptoms of the syndrome are usually recognizable in the newborn period. These include low muscle tone, feeding difficulties, excessive drowsiness, and movements that are described as abnormal. Spasms and seizures are also common throughout the first year of life.
Other symptoms include vision loss, eye movements that are abnormal and optic atrophy.
Developmental delay is common with the syndrome, along with severe intellectual disability.
Unique facial and physical features of the syndrome include a small head, edmea, tapered fingers, narrow forehead, full cheeks, an open mouth, prominent earlobes and a short nose with large nostrils
Possible clinical traits/features:
Malar flattening, Limitation of joint mobility, External ear malformation, Feeding difficulties in infancy, Ventriculomegaly, Developmental stagnation, Arthrogryposis multiplex congenita, EEG abnormality, Pedal edema, Edema, Epicanthus, Peripheral dysmyelination, Severe muscular hypotonia, Recurrent respiratory infections, Tented upper lip vermilion, Microcephaly, Sleep disturbance, Abnormal palate morphology, Undetectable visual evoked potentials, Abnormality of movement, Abnormality of the hand, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Cerebellar atrophy, Full cheeks, Gingival overgrowth, Hydrocephalus, Cognitive impairment, Visual impairment, Hypsarrhythmia, Hyperreflexia, Open mouth, Optic atrophy, Palpebral edema, Retrognathia, Autosomal recessive inheritance, Seizure, Porencephalic cyst, Macrotia, Tapered finger, Abnormality of eye movement, Infantile encephalopathy, Neuronal loss in central nervous system, Anteverted nares, Narrow forehead, Short nose, Intellectual disability.
How is it diagnosed?
To find out if someone has a diagnosis of Peho syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
