TRIGONOCEPHALY 1

General Information (adopted from Orphanet):

Synonyms, Signs: CRANIOSYNOSTOSIS, METOPIC
TRIGNO1
Number of Symptoms 14
OrphanetNr:
OMIM Id: 190440
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000040) Long penis 17 / 7739
2
(HPO:0000252) Microcephaly 832 / 7739
3
(HPO:0000601) Hypotelorism 83 / 7739
4
(HPO:0000243) Trigonocephaly 40 / 7739
5
(HPO:0001363) Craniosynostosis 132 / 7739
6
(HPO:0011324) Multiple suture craniosynostosis 22 / 7739
7
(HPO:0004440) Coronal craniosynostosis 38 / 7739
8
(HPO:0000384) Preauricular skin tag 62 / 7739
9
(HPO:0008439) Lumbar hemivertebrae 2 / 7739
10
(HPO:0002245) Meckel diverticulum 12 / 7739
11
(HPO:0001539) Omphalocele 102 / 7739
12
(OMIM) S-curved lower eyelids 1 / 7739
13
(OMIM) Normal intelligence 81 / 7739
14
(OMIM) Synophrys, mild 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Individuals with trigonocephaly have a keel-shaped forehead with wide biparietal diameter, resulting in a triangular shape of the head. Trigonocephaly results from premature closure of the metopic sutures and usually occurs sporadically (summary by Frydman et al., 1984). ...
Clinical Description OMIM Frydman et al. (1984) described trigonocephaly unassociated with functional brain abnormalities as a distinct autosomal dominant entity. The craniosynostosis was limited to the metopic region, giving a prow appearance to the forehead. Male-to-male transmission was noted. The trait ...
Molecular genetics OMIM Kress et al. (2000) screened 10 patients with nonsyndromic trigonocephaly for mutations in exon 5 of FGFR1 gene, exons 8 and 10 of the FGFR2 gene (176943), exon 7 of the FGFR3 gene (134934), and exon 1 of ...