Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
The following symptoms have been associated with Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome in medical literature. Not everyone experiences the same symptoms.
Constipation
Infrequent or difficult evacuation of feces....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
Hearing impairment
A decreased magnitude of the sensory perception of sound....
Heat intolerance
The inability to maintain a comfortable body temperature in warm or hot weather....
Muscle weakness
Reduced strength of muscles....
Recurrent fever
Periodic (episodic or recurrent) bouts of fever....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tests used to investigate Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
Healthcare providers may order these tests when evaluating Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies 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 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome, which is why a clinical evaluation is important.
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RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity
A neurodevelopmental disorder in which the cause of the disease is a variation in RNU5B-1 gene and is characte...
developmental delay, impaired speech, and behavioral abnormalities
developmental delay, impaired speech, and behavioral abnormalities is a medical condition that may be associat...
intellectual developmental disorder, autosomal dominant 77
intellectual developmental disorder, autosomal dominant 77 is a medical condition that may be associated with ...
mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated wit...
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 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome?
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome is a health condition described in medical literature. Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome?
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome is associated with 8 symptoms in the medical literature we index, including Constipation, Failure to thrive, Gastroesophageal reflux, Hearing impairment, Heat intolerance, Muscle weakness. Symptoms vary widely between individuals.
How is Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies 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 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome, please discuss your symptoms with a qualified healthcare provider.