Helsmoortel-van der Aa syndrome
Helsmoortel-van der Aa syndrome is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with Helsmoortel-van der Aa syndrome
The following symptoms have been associated with Helsmoortel-van der Aa syndrome in medical literature. Not everyone experiences the same symptoms.
Anxiety
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is...
Chronic diarrhea
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks....
Constipation
Infrequent or difficult evacuation of feces....
Dysphagia
Difficulty in swallowing....
Episodic vomiting
Paroxysmal, recurrent episodes of vomiting....
Facial palsy
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to contr...
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...
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tonic seizure
A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevati...
Typical absence seizure
A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden ons...
Tests used to investigate Helsmoortel-van der Aa syndrome
Healthcare providers may order these tests when evaluating Helsmoortel-van der Aa 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 Helsmoortel-van der Aa syndrome, which is why a clinical evaluation is important.
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DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion is a medical condition that...
White-Sutton syndrome
White-Sutton syndrome is a medical condition that may be associated with various symptoms and signs....
intellectual disability, autosomal dominant 43
Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation i...
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 Helsmoortel-van der Aa syndrome?
Helsmoortel-van der Aa syndrome is a health condition described in medical literature. Helsmoortel-van der Aa syndrome is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of Helsmoortel-van der Aa syndrome?
Helsmoortel-van der Aa syndrome is associated with 11 symptoms in the medical literature we index, including Anxiety, Chronic diarrhea, Constipation, Dysphagia, Episodic vomiting, Facial palsy. Symptoms vary widely between individuals.
How is Helsmoortel-van der Aa syndrome diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Helsmoortel-van der Aa 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 Helsmoortel-van der Aa syndrome, please discuss your symptoms with a qualified healthcare provider.