Craniosynostosis, Boston type

General Information (adopted from Orphanet):

Synonyms, Signs: CRANIOSYNOSTOSIS, BOSTON-TYPE
CRS2
CSB
Craniosynostosis, Warman type
Warman-Mulliken-Hayward syndrome
Number of Symptoms 9
OrphanetNr: 1541
OMIM Id: 604757
ICD-10: Q75.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 19 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic craniosynostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001363) Craniosynostosis Very frequent [Orphanet] 132 / 7739
2
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
3
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
4
 (HPO:0002691) Platybasia Very frequent [Orphanet] 10 / 7739
5
 (HPO:0009891) Underdeveloped supraorbital ridges Very frequent [Orphanet] 36 / 7739
6
 (HPO:0000262) Turricephaly Frequent [Orphanet] 38 / 7739
7
 (HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
8
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
9
 (HPO:0001199) Triphalangeal thumb Occasional [Orphanet] 56 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Warman et al. (1993) studied a 3-generation American family of English extraction (referred to by Li et al. (1993) as the Boston family) in which craniosynostosis was segregating in 13 individuals. Although penetrance appeared to be complete, expression ...
Molecular genetics OMIM Li et al. (1993) cloned and sequenced the human MSX2 homeobox gene (123101) and mapped it to the same region of chromosome 5 by in situ hybridization. To determine whether MSX2 expression is consistent with its being a ...