trichorhinophalangeal syndrome type II
Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.
Also known as: Langer-Giedion syndrome, deletion 8q24.1, monosomy 8q24.1, trichorhinophalangeal syndrome type 2, Giedion-Langer syndrome, Langer Giedion syndrome, TRPS 2, TRPS2, trichorhinophalangeal syndrome, type II.
Category: General
Symptoms associated with trichorhinophalangeal syndrome type II
The following symptoms have been associated with trichorhinophalangeal syndrome type II in medical literature. Not everyone experiences the same symptoms.
Alopecia of scalp
Information about Alopecia of scalp....
Arthralgia
Joint pain....
Deeply set eye
An eye that is more deeply recessed into the plane of the face than is typical....
Dry skin
Skin characterized by the lack of natural or normal moisture....
Febrile convulsion
A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever ...
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....
Hemiparesis
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete ...
Scapular winging
Abnormal protrusion of the scapula away from the surface of the back....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Vomiting
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic...
Tests used to investigate trichorhinophalangeal syndrome type II
Healthcare providers may order these tests when evaluating trichorhinophalangeal syndrome type II. 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 trichorhinophalangeal syndrome type II, which is why a clinical evaluation is important.
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...
Stolerman neurodevelopmental syndrome
Stolerman neurodevelopmental syndrome is a medical condition that may be associated with various symptoms and ...
developmental and epileptic encephalopathy 119
A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported...
developmental delay, impaired speech, and behavioral abnormalities
developmental delay, impaired speech, and behavioral abnormalities is a medical condition that may be associat...
neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities
neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities is a medical condition that may b...
Frequently Asked Questions
What is trichorhinophalangeal syndrome type II?
trichorhinophalangeal syndrome type II is a health condition described in medical literature. Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.
What are the symptoms of trichorhinophalangeal syndrome type II?
trichorhinophalangeal syndrome type II is associated with 11 symptoms in the medical literature we index, including Alopecia of scalp, Arthralgia, Deeply set eye, Dry skin, Febrile convulsion, Gastroesophageal reflux. Symptoms vary widely between individuals.
How is trichorhinophalangeal syndrome type II diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with trichorhinophalangeal syndrome type II 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 trichorhinophalangeal syndrome type II, please discuss your symptoms with a qualified healthcare provider.