CTCF-related neurodevelopmental disorder
A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss.
Also known as: MRD21, intellectual development disorder, autosomal dominant 21, intellectual disability, autosomal dominant 21, intellectual disability, autosomal dominant type 21, intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome, mental retardation, autosomal dominant 21, mental retardation, autosomal dominant type 21.
Category: General
Symptoms associated with CTCF-related neurodevelopmental disorder
The following symptoms have been associated with CTCF-related neurodevelopmental disorder 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 constipation
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard...
Depression
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these m...
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...
Generalised tonic-clonic seizure without focal onset
A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characteri...
Generalized tonic seizure
A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening ...
Hearing impairment
A decreased magnitude of the sensory perception of sound....
Tests used to investigate CTCF-related neurodevelopmental disorder
Healthcare providers may order these tests when evaluating CTCF-related neurodevelopmental disorder. 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 CTCF-related neurodevelopmental disorder, which is why a clinical evaluation is important.
22q11.2 deletion syndrome
22q11.2 deletion syndrome is a medical condition that may be associated with various symptoms and signs....
Autosomal dominant progressive external ophthalmoplegia
Autosomal dominant progressive external ophthalmoplegia is a medical condition that may be associated with var...
Houge-Janssens syndrome 4
Houge-Janssens syndrome 4 is a medical condition that may be associated with various symptoms and signs....
Kleefstra syndrome 1
An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant m...
intellectual developmental disorder, autosomal dominant 77
intellectual developmental disorder, autosomal dominant 77 is a medical condition that may be associated with ...
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 CTCF-related neurodevelopmental disorder?
CTCF-related neurodevelopmental disorder is a health condition described in medical literature. A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss.
What are the symptoms of CTCF-related neurodevelopmental disorder?
CTCF-related neurodevelopmental disorder is associated with 8 symptoms in the medical literature we index, including Anxiety, Chronic constipation, Depression, Failure to thrive, Gastroesophageal reflux, Generalised tonic-clonic seizure without focal onset. Symptoms vary widely between individuals.
How is CTCF-related neurodevelopmental disorder diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with CTCF-related neurodevelopmental disorder 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 CTCF-related neurodevelopmental disorder, please discuss your symptoms with a qualified healthcare provider.