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Items: 5

1.

Craniosynostosis

MedGen UID:
910776
Concept ID:
CN241055
Disease or Syndrome
2.

Craniosynostosis 1

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Mutation in the TWIST1 has been found to cause coronal and sagittal forms of craniosynostosis. Genetic Heterogeneity of Craniosynostosis Craniosynostosis-2 (CRS2; 604757) is caused by mutation in the MSX2 gene (123101) on chromosome 5q. Craniosynostosis-3 (CRS3; 615314) is caused by mutation in the TCF12 gene (600480) on chromosome 15q21. Craniosynostosis-4 (CRS4; 600775) is caused by mutation in the ERF gene (611888) on chromosome 19q13. Susceptibility to craniosynostosis-5 (CRS5; 615529) is conferred by variation in the ALX4 gene (605420) on chromosome 7p21. Craniosynostosis-6 (CRS6; 616602) is caused by mutation in the ZIC1 gene (600470) on chromosome 3q24. Susceptibility to craniosynostosis-7 (CRS7; 617439) is conferred by variation in the SMAD6 gene (602931) on chromosome 15q22. [from OMIM]

MedGen UID:
468569
Concept ID:
CN029978
Disease or Syndrome
3.

Craniosynostosis

MedGen UID:
342372
Concept ID:
C1849943
Finding
4.

Craniosynostosis syndrome

Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS. [from MeSH]

MedGen UID:
1163
Concept ID:
C0010278
Congenital Abnormality; Disease or Syndrome
5.

Interfrontal craniofaciosynostosis

MedGen UID:
880851
Concept ID:
CN236409
Disease or Syndrome
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