OMIM ID:
PEHO-Like Syndrome
Alternate Names
Defective Genes
Clinical Characteristics
Ocular Features
Poor visual fixation and attention has been noted during the first 6 months of life. Optic atrophy has been described and epicanthal folds may be present.
Systemic Features
General hypotonia with developmental delay and progressive microcephaly are evident in the first 6-12 months of life. Seizures may be present at birth or within the first month of life. Edema of the feet, hands, and face are also present at birth. Cognitive deficits and motor delays are usually evident during infancy. The central hypotonia may be accompanied by peripheral spasticity. Kyphoscoliosis often develops. Other dysmorphic features include micrognathia, narrow forehead, short nose, and open mouth.
Brain imaging reveals coarse pachygyria, polymicrogyria, and dilated ventricles with hypoplastic corpus callosum and pons. Cerebellar hypoplasia was found in one child.
Genetics
Inheritance
This presumed autosomal recessive disorder is associated with homozygous mutations in the CCDC88A gene (2p16.1). Three affected children have been reported in a consanguineous family.
A somewhat similar disorder known as PEHO syndrome (260565) results from homozygous mutations in the ZNHIT3 gene.
Pedigree
Autosomal recessive
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.