ReNU Syndrome is currently characterised by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, seizures (in most), dysmorphic facial features, and brain anomalies, including ventriculomegaly, thin corpus callosum, and white matter loss (Greene et al., 2024; Schot et al., 2024; Chen et al., 2024).
Examples of Some Traits in Individuals with ReNU Syndrome
Brain Abnormalities
Reduced white matter volume, non-specific abnormalities of the white matter, hypoplasia of corpus callosum (connection between cerebral hemispheres thinner than normal, or missing parts), ventriculomegaly (enlarged ventricles), delayed myelination
Hypotonia
Low muscle tone or muscle weakness
Global development delay
When a child takes longer to reach certain development milestones than other children their age
Mobility issues
Delayed walking, inability to walk, or mobility impairment
Severely impaired intellectual development
Significant limitations in intellectual functioning and adaptive behavior, for example difficulty learning or understanding instructions, remembering things, solving problems, and applying new information
Poor overall growth
Growth problems have been identified, such as microcephaly (head size smaller than expected at birth), short stature, and endocrine issues such as hypothyroidism or growth hormone deficiency
Seizures
Some research participants were found to experience infantile spasms, focal seizures and generalized tonic-clonic seizures, febrile seizures, or status epilepticus
Gastrointestinal issues
Feeding difficulties and excessive drooling, constipation, gastro-esophageal reflux disease, G-tube (gastronomy tube)
Visual anomalies
Optic nerve hypoplasia, cortical vision impairment (aka CVI, the brain cannot process visual information despite the eyes being functional), strabismus (misalignment of the eyes), nystagmus (involuntary, rhythmic, and repetitive eye movements)
Poor or absent speech
Communication difficulties such as difficulty acquiring language (but may develop alternative communication skills)
Dysmorphic facial features
Myopathic face with deep set eyes (some widely spaced, some narrowly spaced), epicanthus (skin fold extending from upper to lower eyelid, partially covering the inner corner of the eye), wide nasal bridge, anteverted nares (upturned nose), large cupped ears (some posteriorly rotated), full cheeks, a distinctive mouth with full lips with downturned corners, high arched palate, and a large or protruding tongue
Skeletal anomalies
Bone issues, such as low bone density, hip dysplasia, and/or recurrent fractures
Anecdotally, many people affected by ReNU Syndrome also exhibit a happy demeanor, may use alternative means of communication, are affectionate, and tend to enjoy swings, clapping, routines, playing with water, drinking water, humming, and music.
It is common to participate in therapies for skills development to enhance the quality of life, and to have multidisciplinary care by numerous specialists in relevant fields. Not everyone with ReNU syndrome has the same set of symptoms; this is not a comprehensive list.