Familial scaphocephaly syndrome, McGillivray type

General Information (adopted from Orphanet):

Synonyms, Signs: Scaphocephaly - macrocephaly - maxillary retrusion - intellectual deficit
Number of Symptoms 16
OrphanetNr: 168624
OMIM Id: 609579
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 11 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:0000243) Trigonocephaly Occasional [Orphanet] 40 / 7739
2
 (HPO:0000582) Upslanted palpebral fissure Occasional [Orphanet] 185 / 7739
3
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
4
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
5
 (HPO:0000303) Mandibular prognathia Occasional [Orphanet] 179 / 7739
6
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
7
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
8
 (HPO:0000268) Dolichocephaly Frequent [Orphanet] 144 / 7739
9
 (HPO:0011800) Midface retrusion Frequent [Orphanet] 221 / 7739
10
 (HPO:0000327) Hypoplasia of the maxilla Very frequent [Orphanet] 129 / 7739
11
 (HPO:0000689) Dental malocclusion Frequent [Orphanet] 114 / 7739
12
 (HPO:0001249) Intellectual disability 1089 / 7739
13
 (HPO:0001770) Toe syndactyly Occasional [Orphanet] 149 / 7739
14
 (HPO:0010055) Broad hallux Occasional [Orphanet] 56 / 7739
15
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
16
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM McGillivray et al. (2005) reported a 3-generation family in which 11 members showed autosomal dominant inheritance of a distinct craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, hypertelorism, maxillary retrusion, and mild intellectual disability. The authors noted that the absence ...
Molecular genetics OMIM In a 3-generation family with a scaphocephaly syndrome, McGillivray et al. (2005) screened for mutations in genes known to be associated with craniosynostosis and identified a mutation in the FGFR2 gene (176943.0034). McGillivray et al. (2005) stated that ...