Microphthalmia with linear skin defects syndrome
Microphthalmia with linear skin defects syndrome is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with Microphthalmia with linear skin defects syndrome
The following symptoms have been associated with Microphthalmia with linear skin defects syndrome in medical literature. Not everyone experiences the same symptoms.
Blindness
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. ...
Dyspnea
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg sca...
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Hearing impairment
A decreased magnitude of the sensory perception of sound....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Status epilepticus
Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsi...
Visual loss
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term re...
Tests used to investigate Microphthalmia with linear skin defects syndrome
Healthcare providers may order these tests when evaluating Microphthalmia with linear skin defects syndrome. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with Microphthalmia with linear skin defects syndrome, which is why a clinical evaluation is important.
Developmental and epileptic encephalopathy 122
Developmental and epileptic encephalopathy 122 is a medical condition that may be associated with various symp...
Infantile Krabbe disease
Infantile Krabbe disease is a medical condition that may be associated with various symptoms and signs....
Morimoto-Ryu-Malicdan neuromuscular syndrome
Morimoto-Ryu-Malicdan neuromuscular syndrome is a medical condition that may be associated with various sympto...
Netherton syndrome
Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a dis...
developmental delay, impaired speech, and behavioral abnormalities
developmental delay, impaired speech, and behavioral abnormalities is a medical condition that may be associat...
multiple mitochondrial dysfunctions syndrome 9b
A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is c...
Frequently Asked Questions
What is Microphthalmia with linear skin defects syndrome?
Microphthalmia with linear skin defects syndrome is a health condition described in medical literature. Microphthalmia with linear skin defects syndrome is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of Microphthalmia with linear skin defects syndrome?
Microphthalmia with linear skin defects syndrome is associated with 7 symptoms in the medical literature we index, including Blindness, Dyspnea, Failure to thrive, Hearing impairment, Seizure, Status epilepticus. Symptoms vary widely between individuals.
How is Microphthalmia with linear skin defects syndrome diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Microphthalmia with linear skin defects syndrome include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have Microphthalmia with linear skin defects syndrome, please discuss your symptoms with a qualified healthcare provider.