Langer–Giedion syndrome
Langer–Giedion syndrome | |
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Other names | Deletion 8q24.1, monosomy 8q24.1, trichorhinophalangeal syndrome type II (TRPS2), Langer–Giedion chromosome region (LGCR) Fibrodysplasia Ossificans Progressiva, Trichorhinophalangeal syndrome type 3, multiple exostoses, Legg–Calvé–Perthes disease[3] |
Langer–Giedion syndrome (LGS) is a very uncommon
Signs and symptoms
The features associated with this condition include: mild to moderate learning difficulties, short stature, unique facial features, small
Craniofacial
Individuals with Langer–Giedion syndrome may display characteristic craniofacial abnormalities. These include a long prominent
Muscoskeletal
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The right foot of a person with Langer–Giedion syndrome showing the characteristic features
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Hands of a person with Langer–Giedion syndrome showing the characteristic short fingers
Langer–Giedion syndrome causes cone shaped epiphyses of the phalanges of the hands and
As affected individuals age they often develop benign boney growths called exostoses which project off the surfaces of the bones. Depending on the location of the exostoses they cause numerous complications such as compression of the spinal cord, asymmetric growth of the limbs and reduced mobility.[7]
Langer–Giedion syndrome initially causes
Skin, hair, sweat glands and nails
Ectodermal dysplasia is a key feature of Langer–Giedion syndrome.[9]
The majority of individuals with Langer–Giedion syndrome have sparse scalp hair; this is particularly severe in males, who often experience alopecia shortly after puberty. Despite this the eyebrows may be unusually thick.[8]
Cause
The syndrome occurs when a small piece of chromosome 8's long arm, which contains a number of genes, is missing. The loss of these genes is responsible for some of the overall characteristics of Langer–Giedion syndrome.[citation needed]
The missing portion of the chromosome is 8q23.2–q24.1.
Diagnosis
Diagnosis is based on clinical findings and can be confirmed by cytogenetic testing, when the deletion is in an average of 5 Mb (millions of base pairs). Nowadays, it is a common practice to run an aCGH (array chromosome hybridization genome) study on peripheral blood of the patient, in order to delineate the extent of the loss of the genomic area, and the deleted genes.[10]
Treatment
While no genetic syndrome is capable of being cured, treatments are available for some symptoms. External fixators have been used for limbic and facial reconstructions.[citation needed]
See also
- TRPS1
References
- ^ Online Mendelian Inheritance in Man (OMIM): 150230
- ^ S2CID 19384557.
- ^ "Trichorhinophalangeal syndrome type ii". National Organisation for Rare Disorders. Retrieved July 7, 2021.
- PMID 16528117.
- ^ "Trichorhinophalangeal syndrome type ii". National Organisation for Rare Disorders. Retrieved July 7, 2021.
- ^ "trichorhinophalangeal syndrome type 2". Genetic and Rare Diseases Information Center. Retrieved July 7, 2021.
- ^ "trichorhinophalangeal syndrome type ii". National Organisation for Rare Disorders. Retrieved July 2, 2021.
- ^ a b "trichorhinophalangeal syndrome type II". MedlinePlus. Retrieved July 7, 2021.
- S2CID 26579346.
- ^ OMIM Entry - # 150230 - TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2
External links
- Trichorhinophalangeal syndrome type 2 at NIH's Office of Rare Diseases