Kleeblattschaedel
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Kleeblattschaedel, or isolated cloverleaf skull syndrome, is a rare
malformation A birth defect is an abnormal condition that is present at birth, regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth de ...
of the head where there is a protrusion of the skull and broadening of the face. This condition is a severe type of
craniosynostosis Craniosynostosis is a condition in which one or more of the fibrous sutures in a young infant's skull prematurely fuses by turning into bone (ossification), thereby changing the growth pattern of the skull. Because the skull cannot expand perpe ...
. The condition can be both isolated or associated with other craniofacial dysostosises. 85% of children with this condition have other anomalies. Severe forms of the condition are often a sign of syndromic craniosynostosis combined with a grotesque constriction ring of the lambdoid structure and the
squamosal bone The squamosal is a skull bone found in most reptiles, amphibians, and birds. In fishes, it is also called the pterotic bone. In most tetrapods, the squamosal and quadratojugal bones form the cheek series of the skull. The bone forms an ancestral ...
or in another area.


Name and etymology

''Kleeblattschaedel'' (''Kleeblattschädel'') is German for "cloverleaf skull". The disorder was named Kleeblattschaedel syndrome in 1958. The German word is sometimes used in medical English, where it is often regarded as more or less
naturalized Naturalization (or naturalisation) is the legal act or process by which a non-national of a country acquires the nationality of that country after birth. The definition of naturalization by the International Organization for Migration of the ...
, thus appearing in any combination of capitalized or not, with umlaut diacritic or not, and italicized or not.


History

The first case reported was in 1849. The condition was first identified in 1960, and the first case in the
United States The United States of America (USA), also known as the United States (U.S.) or America, is a country primarily located in North America. It is a federal republic of 50 U.S. state, states and a federal capital district, Washington, D.C. The 48 ...
was reported in 1965.


Causes

The condition is caused by a premature fusing of the fibrous sutures. The distinctive head shape seen in kleeblattschaedel is caused by the closure of the
sagittal The sagittal plane (; also known as the longitudinal plane) is an anatomical plane that divides the body into right and left sections. It is perpendicular to the transverse plane, transverse and coronal plane, coronal planes. The plane may be in ...
, coronal, and lambdoid sutures, with subsequent bulging of the cranial contents leading to a trilobate head shape. The condition is also caused by absence of the coronal and lambdoid sutures. Conditions with kleeblattschaedel include: * Antley-Bixler syndrome * Beare-Stevenson cutis gyrata syndrome * Carpenter syndrome * Cloverleaf skull-asphyxiating thoracic dysplasia syndrome * Cloverleaf skull-multiple congenital anomalies syndrome *
Cranioectodermal dysplasia Sensenbrenner syndrome (OMIM #218330) is a rare (less than 20 cases reported by 2010) multisystem disease first described by Judith A. Sensenbrenner in 1975. It is inherited in an autosomal recessive fashion, and a number of genes appear to be resp ...
2 * Crouzon syndrome * Micromelic bone dysplasia with cloverleaf skull * Mosaic trisomy 5 * Muenke syndrome * Osteoglophonic dysplasia *
Pfeiffer syndrome Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the human skull, skull (craniosynostosis), which affects the shape of the head and face. The syndrome includes abnormalities of the hands an ...
* Thanatophoric dysplasia, types 1 and 2 File:Carpenter Syndrome 1.jpg, Carpenter syndrome File:Crouzon Syndrome.jpg, Crouzon syndrome File:Weygandt 1.jpg, Pfeiffer syndrome File:ABNORMALITIES; Tabulae ad illustrandam embry Wellcome L0032358.jpg, Thanatophoric dysplasia


Epidemiology

The condition occurs equally in both males as in females.


References

{{reflist, group=lower-alpha Congenital disorders of musculoskeletal system Rare diseases Congenital disorders of eye, ear, face and neck