hypotonia, infantile, with psychomotor retardation and characteristic facies 3
A rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.
What is hypotonia, infantile, with psychomotor retardation and characteristic facies 3?
hypotonia, infantile, with psychomotor retardation and characteristic facies 3 is a recognized medical condition. This page explains what it is, symptoms that may accompany it, and the lab tests healthcare providers sometimes use to investigate it. It is educational information only and is not a diagnosis.
If you think you may have hypotonia, infantile, with psychomotor retardation and characteristic facies 3, speak with a qualified healthcare provider for evaluation and guidance.
Symptoms that may be associated with hypotonia, infantile, with psychomotor retardation and characteristic facies 3
When to seek medical care
Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.