microcephalic osteodysplastic primordial dwarfism type I
A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits.
Also known as: MOPD 1, MOPD1, Taybi-Linder syndrome, brachymelic primordial dwarfism, cephaloskeletal dysplasia, low-birth-weight dwarfism with skeletal dysplasia, microcephalic osteodysplastic primordial dwarfism, type 1, microcephalic osteodysplastic primordial dwarfism, type I, osteodysplastic primordial dwarfism, type 1.
Category: General
Symptoms associated with microcephalic osteodysplastic primordial dwarfism type I
The following symptoms have been associated with microcephalic osteodysplastic primordial dwarfism type I in medical literature. Not everyone experiences the same symptoms.
Dry skin
Skin characterized by the lack of natural or normal moisture....
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...
Hypertension
The presence of chronic increased pressure in the systemic arterial system....
Prolonged neonatal jaundice
Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of incre...
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 ...
Status epilepticus
Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsi...
Tests used to investigate microcephalic osteodysplastic primordial dwarfism type I
Healthcare providers may order these tests when evaluating microcephalic osteodysplastic primordial dwarfism type I. 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 microcephalic osteodysplastic primordial dwarfism type I, which is why a clinical evaluation is important.
Houge-Janssens syndrome 4
Houge-Janssens syndrome 4 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...
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...
cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1
cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 is a medical c...
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 microcephalic osteodysplastic primordial dwarfism type I?
microcephalic osteodysplastic primordial dwarfism type I is a health condition described in medical literature. A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits.
What are the symptoms of microcephalic osteodysplastic primordial dwarfism type I?
microcephalic osteodysplastic primordial dwarfism type I is associated with 8 symptoms in the medical literature we index, including Dry skin, Failure to thrive, Gastroesophageal reflux, Hypertension, Prolonged neonatal jaundice, Recurrent fever. Symptoms vary widely between individuals.
How is microcephalic osteodysplastic primordial dwarfism type I diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with microcephalic osteodysplastic primordial dwarfism type I 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 microcephalic osteodysplastic primordial dwarfism type I, please discuss your symptoms with a qualified healthcare provider.