Here I present: “Craniosynostosis Type-2”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 2型鈜骨共食症。icd 10=Q75.0 (MSX2).
INTRODUCTION.
Craniosynostosis (CRS) 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
Craniosynostosis Type-2 (CRS2) 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 type-2 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.
There is evidence that craniosynostosis type-2 (CRS2) is caused by heterozygous mutation in the muscle segment homeobox-2 (MSX2) gene on cytogenetic location 5q35.2 and genomic coordinates 5:174,724,582-174,730,896. The screenshot of the MSX2 gene 6,315 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides MSX2 in the 5q35.2 are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:173,607,145 | BOD1 | Biorientation of chromosomes in cell division 1 |
| 5:173,888,349 | CPEB4 | Cytoplasmic polyadenylation element-binding protein 4 |
| 5:173,989,170 | C5orf47 | Chromsome 5 open reading frame 47 |
| 5:174,045,706 | NSG2 | Neuronal vesicle trafficking-associated protein 2 |
| 5:174,724,582 | MSX2 | msh homeobox 2 |
| 5:175,440,036 | DRD1 | Dopamine receptor D1 |
| 5:175,478,560 | SFXN1 | Sideroflexin 1 |
| 5:175,658,071 | HRH2 | Histamine receptor H2 |
| 5:175,796,533 | CPLX2 | Complexin 2 |
| 5:175,959,531 | THOC3 | THO complex 3 (Tex1, yeast, homolog of) |
