Hadju Cheney Syndrome: Difference between revisions
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==Overview== | ==Overview== | ||
Hajdu-Cheney syndrome is a rare, connective tissue disorder comprising acroosteolysis of the distal phalanges with associated digital abnormalities, distinctive craniofacial and skull changes, dental anomalies, and proportionate short stature. Although the majority of cases are of unknown cause, the presence of multiple cases in one family suggests that autosomal dominant genetic transmission may be possible.The Hajdu-Cheney syndrome (familial idiopathic | Hajdu-Cheney syndrome also known as Cheney Syndrome, HCS is a rare, connective tissue disorder comprising acroosteolysis of the distal phalanges with associated digital abnormalities, distinctive craniofacial and skull changes, dental anomalies, and proportionate short stature. Although the majority of cases are of unknown cause, the presence of multiple cases in one family suggests that autosomal dominant genetic transmission may be possible.The Hajdu-Cheney syndrome (familial idiopathic | ||
acro-osteolysis) was first described in | acro-osteolysis) was first described in | ||
1948 by Hajdu and Kauntze and more extensively reported by Cheney.<ref>http://www.ijri.org/article.asp?issn=0971-3026;year=2008;volume=18;issue=2;spage=138;epage=140;aulast=Satishchandra</ref> | 1948 by Hajdu and Kauntze and more extensively reported by Cheney.<ref>http://www.ijri.org/article.asp?issn=0971-3026;year=2008;volume=18;issue=2;spage=138;epage=140;aulast=Satishchandra</ref> | ||
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**Eye Abnormalities-Hearing loss, Cataract, Nystagmus, Protruding eyeballs, Widely spaced eyes, Epicanthal folds, Optic atrophy. | **Eye Abnormalities-Hearing loss, Cataract, Nystagmus, Protruding eyeballs, Widely spaced eyes, Epicanthal folds, Optic atrophy. | ||
**Abdominal wall laxity resulting in umbilical hernia and inguinal hernia. | **Abdominal wall laxity resulting in umbilical hernia and inguinal hernia. | ||
==Treatment== | |||
==References== | ==References== | ||
==External Links== | |||
1.<ref>http://www.ijri.org/article.asp?issn=0971-3026;year=2008;volume=18;issue=2;spage=138;epage=140;aulast=Satishchandra</ref>Hadju Cheney Syndrome-Case Report | |||
Revision as of 20:58, 13 September 2011
Overview
Hajdu-Cheney syndrome also known as Cheney Syndrome, HCS is a rare, connective tissue disorder comprising acroosteolysis of the distal phalanges with associated digital abnormalities, distinctive craniofacial and skull changes, dental anomalies, and proportionate short stature. Although the majority of cases are of unknown cause, the presence of multiple cases in one family suggests that autosomal dominant genetic transmission may be possible.The Hajdu-Cheney syndrome (familial idiopathic acro-osteolysis) was first described in 1948 by Hajdu and Kauntze and more extensively reported by Cheney.[1]
Genetics
Although the cases of Hadju Cheney Syndrome has been sporadically found, evidences has shown it to be a Autosomal Dominant disease. Some heterogygous nonsense and frameshift mutations in NOTCH2 to the last coding exon of the gene has been shown. The NOTCH signaling pathway is critical for cell-fate determination.[2]Notch2 mutattions are also seen in Alagile Syndrome.
Clinical Features
- Acroosteolysis i,e breakdown of bone (osteolysis), especially of the outermost bones of the fingers and toes. # Osseous compression
- Osteoporosis, Osteopenia, reccurent fractures and other skeletal abnormalities like wormian cranial bones, Ossification failure of sutures, Thickened skull vault, Absence of frontal sinus, Elongated sella turcica, Progressive basilar impressio, Foramen magnum impaction
- Hydrocephalus, Bathrocephaly
- Dysmorphic facies-Prominent eyebrows, Down slanting space between eyelids, Low set ears, Prominent ear lobes, Broad nose, Anteverted nostrils, Long philtrum, Small mandible, Resorption of alveolar process, Early loss of teeth, Highly arched palate.
- Vertebral Abnormalities-Biconcave vertebrae, Tall lumbar vertebral bodies, Narrow vertebral disk space, Kyphoscoliosis
- Joint laxity
- Long and bowed fibula
- Eye Abnormalities-Hearing loss, Cataract, Nystagmus, Protruding eyeballs, Widely spaced eyes, Epicanthal folds, Optic atrophy.
- Abdominal wall laxity resulting in umbilical hernia and inguinal hernia.
Treatment
References
External Links
1.[3]Hadju Cheney Syndrome-Case Report