Jacobsen syndrome

Jacobsen syndrome
Classification & external resources
ICD-10Q93.5
ICD-9757.3
OMIM147791
DiseasesDB31957
Jacobsen Syndrome, also known as 11q deletion, is a rare congenital disorder resulting from deletion of a terminal region of chromosome 11 that includes band 11q24.1. It can cause mild mental retardation, a distinctive facial appearance, and a variety of physical problems including heart defects and a bleeding disorder. The syndrome was first identified by Danish physician Petra Jacobsen in 1973, and is believed to occur in approximately 1 out of every 100,000 births.

Physical Characteristics

  • Closely-set eyes caused by trigonocephaly
  • Folding of the skin near the eye (epicanthus)
  • Short, upturned nose (anteverted nostrils)
  • Thin lips that curve inward
  • Displaced receding chin (retrognathia)
  • Low-set, misshapen ears
  • Permanent upward curvature of the pinkie and ring fingers (bilateral camptodactyly)
  • Hammer toes
In addition, patients tend to be shorter than average and have poor psychomotor skills.

Outlook

Patients with this disorder can often live relatively normal lives within the limitations of their disability, although this varies from person to person, and congenital heart disease that does not manifest itself until adulthood is common. There is a greater incidence of various forms of cancer among Jacobsen patients. The vast majority of patients have a bleeding disorder called Paris-Trousseau Syndrome, which causes reduced blood platelet counts and an impairment of platelets' normal blood clotting function. Platelet counts increase during childhood and can eventually reach normal levels, but many patients still have poor clotting due to abnormalities in platelet function. Unless their platelet function has been tested and shown to be normal, Jacobsen patients should be assumed to have a bleeding disorder.

The majority of Jacobsen syndrome cases are not familial in nature, resulting from a spontaneous mutation occurring in a single parental gamete. However, some instances of familial disease resulting from local chromosome fragility or an unbalanced translocation have been described.

Sources

  • 11q.org - Note: PDF file
  • Orthoseek - Specializes in pediatric orthopedics and pediatric sports medicine


The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD
..... Click the link for more information.
List of ICD-10 codes. The version for 2007 is available online at [1]

Chapter Blocks Title
I Certain infectious and parasitic diseases
II Neoplasms
III Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
..... Click the link for more information.


The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD
..... Click the link for more information.
The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. These codes are in the public domain.

See also


..... Click the link for more information.
The Diseases Database is a free website that provides information about the relationships between medical conditions, symptoms, and medications.

It directly integrates the Unified Medical Language System.

External links

  • Diseases Database

..... Click the link for more information.
A congenital disorder is any medical condition that is present at birth. However, a congenital disorder can be recognized before birth (prenatally), at birth, years later, or never. The term congenital does not imply or exclude a genetic cause.
..... Click the link for more information.
Chromosome 11 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 11 spans about 134.5 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells.
..... Click the link for more information.
MeSH D008607



Mental retardation
..... Click the link for more information.
heart is a muscular organ responsible for pumping blood through the blood vessels by repeated, rhythmic contractions, or a similar structure in the annelids, mollusks, and arthropods.
..... Click the link for more information.
Hemophilia
Classification & external resources

ICD-10 D 66. -D 68.
ICD-9 286

OMIM 306700 306900 264900
DiseasesDB 5555 5561 29376
MedlinePlus 000537
eMedicine med/3528  
MeSH D025861

Haemophilia or hemophilia
..... Click the link for more information.
Dane may refer to:
  • People with a Danish ancestral or ethnic identity, whether living in Denmark, emigrants, or the descendants of emigrants.
  • Members of the Danish ethnic minority in Southern Schleswig, a former Danish province.
  • Anyone whose mother tongue is Danish.

..... Click the link for more information.
19th century - 20th century - 21st century
1940s  1950s  1960s  - 1970s -  1980s  1990s  2000s
1970 1971 1972 - 1973 - 1974 1975 1976
..... Click the link for more information.
Cephalic disorder
Classification & external resources

ICD-10 Q00-Q07, Q67, Q75
ICD-9 740 - 742

Cephalic disorders (from the Greek word κεφάλη
..... Click the link for more information.
epicanthal fold, epicanthic fold, or epicanthus is a skin fold of the upper eyelid (from the nose to the inner side of the eyebrow) covering the inner corner (medial canthus) of the human eye.
..... Click the link for more information.
Retrognathism
Classification & external resources

ICD-10 K 07.1
ICD-9 524.10

DiseasesDB 34031

MeSH D012182 Retrognathism (or retrognathia
..... Click the link for more information.
Camptodactyly is a medical condition involving fixed flexion deformity of the interphalangeal joints of the little finger.

Causes

A number of congenital syndromes may cause camptodactyly: -
  • Jacobsen syndrome
  • Blau syndrome
  • Freeman-Sheldon syndrome

..... Click the link for more information.
Hammer toe
Classification & external resources

A Mallet Toe is evident on the 3rd digit
ICD-10 M 20.4 , Q 66.8
ICD-9 735.4 , 755.66

MeSH D037801 A hammer toe
..... Click the link for more information.
Heart disease is an umbrella term for a number of different diseases which affect the heart and as of 2007 it is the leading cause of death in the United States.[1]

Types of heart disease

Cardiomyopathy


..... Click the link for more information.
Editing of this page by unregistered or newly registered users is currently disabled due to vandalism.
If you are prevented from editing this page, and you wish to make a change, please discuss changes on the talk page, request unprotection, log in, or .
..... Click the link for more information.
Platelets, or thrombocytes, are the cell fragments circulating in the blood that are involved in the cellular mechanisms of primary hemostasis leading to the formation of blood clots.
..... Click the link for more information.
Coagulation is a complex process by which blood forms solid clots. It is an important part of hemostasis (the cessation of blood loss from a damaged vessel) whereby a damaged blood vessel wall is covered by a platelet- and fibrin-containing clot to stop bleeding and begin repair of
..... Click the link for more information.
mutations are changes to the base pair sequence of the genetic material of an organism. Mutations can be caused by copying errors in the genetic material during cell division, by exposure to ultraviolet or ionizing radiation, chemical mutagens, or viruses, or can occur deliberately
..... Click the link for more information.
A gamete (from Ancient Greek γαμετης; translated gamete = wife, gametes = husband) is a cell that fuses with another gamete during fertilisation (conception) in organisms that reproduce sexually.
..... Click the link for more information.
chromosome translocation is a chromosome abnormality caused by rearrangement of parts between nonhomologous chromosomes. It is detected on cytogenetics or a karyotype of affected cells.
..... Click the link for more information.


This article is copied from an article on Wikipedia.org - the free encyclopedia created and edited by online user community. The text was not checked or edited by anyone on our staff. Although the vast majority of the wikipedia encyclopedia articles provide accurate and timely information please do not assume the accuracy of any particular article. This article is distributed under the terms of GNU Free Documentation License.