Kleeblattschaedel

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Kleeblattschaedel
Other namesCloverleaf skull, kleeblattschädel, isolated cloverleaf skull syndrome [1]
Child with extreme congenital proptosis and microcephalus Wellcome L0062479.jpg
1-day-old female infant with kleeblattschaedel
Complications Proptosis, recurrent corneal erosions, elbow ankylosis, hydrocephalus

Kleeblattschaedel is a rare malformation of the head where there is a protrusion of the skull and broadening of the face. [2] This condition is a severe type of craniosynostosis. [3]

Contents

The condition can be both isolated or associated with other craniofacial dysostosises. [4] 85% of children with this condition have other anomalies. [5] 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 or in another area. [4]

Name and etymology

Kleeblattschaedel (Kleeblattschädel) is German for "cloverleaf skull". [6] The disorder was named Kleeblattschaedel syndrome in 1958. [7] The German word is sometimes used in medical English, where it is often regarded as more or less naturalized, thus appearing in any combination of capitalized or not, with umlaut diacritic or not, and italicized or not.

History

The first case reported was back in 1849. The condition was first identified in 1960, and the first case in the United States was reported in 1965. [8]

Causes

The condition is caused by a premature fusing of the fibrous sutures. [9] The distinctive head shape seen in kleeblattschaedel is caused by the closure of the sagittal, coronal, and lambdoid sutures, with subsequent bulging of the cranial contents leading to a trilobate head shape. [7] The condition is also caused by absence of the coronal and lambdoid sutures. [10]

Conditions with kleeblattschaedel include: [11] [12]

Epidemiology

The condition occurs equally in both males as in females. [17]

Related Research Articles

<span class="mw-page-title-main">Macrocephaly</span> Abnormally large head size

Macrocephaly is a condition in which circumference of the human head is abnormally large. It may be pathological or harmless, and can be a familial genetic characteristic. People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular disorders. Those with benign or familial macrocephaly are considered to have megalencephaly.

<span class="mw-page-title-main">Brachycephaly</span> Short, broad head

Brachycephaly is the shape of a skull shorter than average in its species. It is perceived as a cosmetically desirable trait in some domesticated dog and cat breeds, notably the pug and Persian, and can be normal or abnormal in other animal species.

<span class="mw-page-title-main">Turricephaly</span> Medical condition

Turricephaly is a type of cephalic disorder where the head appears tall with a small length and width. It is due to premature closure of the coronal suture plus any other suture, like the lambdoid, or it may be used to describe the premature fusion of all sutures. It should be differentiated from Crouzon syndrome. Oxycephaly is a form of turricephaly where the head is cone-shaped, and is the most severe of the craniosynostoses.

<span class="mw-page-title-main">Plagiocephaly</span> Medical condition

Plagiocephaly, also known as flat head syndrome, is a condition characterized by an asymmetrical distortion of the skull. A mild and widespread form is characterized by a flat spot on the back or one side of the head caused by remaining in a supine position for prolonged periods.

<span class="mw-page-title-main">Scaphocephaly</span> Cephalic disorder involving premature fusion of the sagittal suture

Scaphocephaly, or sagittal craniosynostosis, is a type of cephalic disorder which occurs when there is a premature fusion of the sagittal suture. Premature closure results in limited lateral expansion of the skull resulting in a characteristic long, narrow head. The skull base is typically spared.

<span class="mw-page-title-main">Crouzon syndrome</span> Genetic disorder of the skull and face

Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial arch, which is the precursor of the maxilla and mandible. Because the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects. The syndrome is caused by a mutation in a gene on chromosome 10 that controls the body's production of fibroblast growth factor receptor 2 (FGFR2).

<span class="mw-page-title-main">Apert syndrome</span> Congenital disorder of the skull and digits

Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial arch, the precursor of the maxilla and mandible. Disturbances in the development of the branchial arches in fetal development create lasting and widespread effects.

<span class="mw-page-title-main">Craniosynostosis</span> Premature fusion of bones in the skull

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 perpendicular to the fused suture, it compensates by growing more in the direction parallel to the closed sutures. Sometimes the resulting growth pattern provides the necessary space for the growing brain, but results in an abnormal head shape and abnormal facial features. In cases in which the compensation does not effectively provide enough space for the growing brain, craniosynostosis results in increased intracranial pressure leading possibly to visual impairment, sleeping impairment, eating difficulties, or an impairment of mental development combined with a significant reduction in IQ.

<span class="mw-page-title-main">Thanatophoric dysplasia</span> Severe form of genetic dwarfism that is usually lethal

Thanatophoric dysplasia is a severe skeletal disorder characterized by a disproportionately small ribcage, extremely short limbs and folds of extra skin on the arms and legs.

<span class="mw-page-title-main">Exophthalmos</span> Bulging of the eye anteriorly out of the orbit

Exophthalmos is a bulging of the eye anteriorly out of the orbit. Exophthalmos can be either bilateral or unilateral. Complete or partial dislocation from the orbit is also possible from trauma or swelling of surrounding tissue resulting from trauma.

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<span class="mw-page-title-main">Hypertelorism</span> Abnormally increased distance between two body parts, usually the eyes

Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits (eyes), or orbital hypertelorism. In this condition the distance between the inner eye corners as well as the distance between the pupils is greater than normal. Hypertelorism should not be confused with telecanthus, in which the distance between the inner eye corners is increased but the distances between the outer eye corners and the pupils remain unchanged.

<span class="mw-page-title-main">Acrocephalosyndactyly</span> Group of diseases

Acrocephalosyndactyly is a group of congenital conditions characterized by irregular features of the face and skull (craniosynostosis) and hands and feet (syndactyly). Craniosynostosis occurs when the cranial sutures, the fibrous tissue connecting the skull bones, fuse the cranial bones early in development. Cranial sutures allow the skull bones to continue growing until they fuse at age 24. Premature fusing of the cranial sutures can result in alterations to the skull shape and interfere with brain growth. Syndactyly occurs when digits of the hands or feet are fused together. When polydactyly is also present, the classification is acrocephalopolysyndactyly. Polydactyly occurs when the hands or feet possess additional digits. Acrocephalosyndactyly is usually diagnosed after birth, although prenatal diagnosis is sometimes possible if the genetic variation is present in family members, as the conditions are typically inherited in an autosomal dominant pattern Treatment often involves surgery in early childhood to correct for craniosynostosis and syndactyly.

<span class="mw-page-title-main">Muenke syndrome</span> Medical condition

Muenke syndrome, also known as FGFR3-related craniosynostosis, is a human specific condition characterized by the premature closure of certain bones of the skull during development, which affects the shape of the head and face. First described by Maximilian Muenke, the syndrome occurs in about 1 in 30,000 newborns. This condition accounts for an estimated 8 percent of all cases of craniosynostosis.

<span class="mw-page-title-main">Fibroblast growth factor receptor 3</span> Gene involved in the most common form of dwarfism

Fibroblast growth factor receptor 3 (FGFR-3) is a protein that in humans is encoded by the FGFR3 gene. FGFR3 has also been designated as CD333. The gene, which is located on chromosome 4, location p16.3, is expressed in tissues such as the cartilage, brain, intestine, and kidneys.

<span class="mw-page-title-main">Antley–Bixler syndrome</span> Congenital disorder

Antley–Bixler syndrome is a rare, severe autosomal recessive congenital disorder characterized by malformations and deformities affecting the majority of the skeleton and other areas of the body.

<span class="mw-page-title-main">McGillivray syndrome</span> Medical condition

McGillivray syndrome is a rare syndrome characterized mainly by heart defects, skull and facial abnormalities and ambiguous genitalia. The symptoms of this syndrome are ventricular septal defect, patent ductus arteriosus, small jaw, undescended testes, and webbed fingers. Beside to these symptoms there are more symptoms which is related with bone structure and misshape.

<span class="mw-page-title-main">Craniosynostosis and dental anomalies</span> Medical condition

Craniosynostosis and dental anomalies is an autosomal recessive syndrome characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies. Dental anomalies seen in this condition include malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Syndactyly, clinodactyly, and other digit anomalies may also be present.

References

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    2. Lindsey, Mary P. (2002-03-11). Dictionary of Mental Handicap. Routledge. p. 181. ISBN   978-1-134-97199-2.
    3. Wynbrandt, James; Ludman, Mark D. (2010-05-12). The Encyclopedia of Genetic Disorders and Birth Defects. Infobase Publishing. pp. 229–230. ISBN   978-1-4381-2095-9.
    4. 1 2 Kaiser, Georges L. (2012-12-13). Symptoms and Signs in Pediatric Surgery. Springer Science & Business Media. p. 79. ISBN   978-3-642-31161-1.
    5. Swaiman, Kenneth F.; Ashwal, Stephen M.; Ferriero, Donna M.; Schor, Nina F.; Finkel, Richard S.; Gropman, Andrea L.; Pearl, Phillip L.; Shevell, Michael (2017-09-21). Swaiman's Pediatric Neurology E-Book: Principles and Practice. Elsevier Health Sciences. pp. e582. ISBN   978-0-323-37481-1.
    6. Weaver, David D.; Brandt, Ira K. (1999). Catalog of Prenatally Diagnosed Conditions. JHU Press. p. 151. ISBN   978-0-8018-6044-7.
    7. 1 2 Radswiki, The. "Cloverleaf skull (craniosynostosis) | Radiology Reference Article | Radiopaedia.org". Radiopaedia. Retrieved 2023-01-28.
    8. Quinones-Hinojosa, Alfredo (2021-04-22). Schmidek and Sweet: Operative Neurosurgical Techniques E-Book: Indications, Methods and Results. Elsevier Health Sciences. p. 953. ISBN   978-0-323-41519-4.
    9. "Craniofacial Abnormalities". www.hopkinsmedicine.org. 8 August 2021. Retrieved 2021-10-02.
    10. Lewis, Mary (2017-07-26). Paleopathology of Children: Identification of Pathological Conditions in the Human Skeletal Remains of Non-Adults. Academic Press. p. 25. ISBN   978-0-12-410439-6.
    11. "Cloverleaf skull". Medgen - NCBI. Retrieved August 28, 2023.
    12. "Cloverleaf skull syndrome". Medgen - NCBI. Retrieved August 28, 2023.
    13. "Cloverleaf skull-asphyxiating thoracic dysplasia syndrome". Medgen - NCBI. Retrieved August 28, 2023.
    14. "Cloverleaf skull-multiple congenital anomalies syndrome". Medgen - NCBI. Retrieved August 28, 2023.
    15. "Mosaic trisomy 5". Medgen - NCBI. Retrieved August 28, 2023.
    16. "Muenke syndrome". Medgen - NCBI. Retrieved August 28, 2023.
    17. Ketonen, L. M.; Hiwatashi, A.; Sidhu, R.; Westesson, P.-L. (2005-12-05). Pediatric Brain and Spine: An Atlas of MRI and Spectroscopy. Springer Science & Business Media. p. 64. ISBN   978-3-540-26436-1.