Trigonocephaly - broad thumbs

General Information (adopted from Orphanet):

Synonyms, Signs: Hunter-Rudd-Hoffmann syndrome
Number of Symptoms 14
OrphanetNr: 3365
OMIM Id:
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 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:0000601) Hypotelorism Very frequent [Orphanet] 83 / 7739
2
 (HPO:0001363) Craniosynostosis Very frequent [Orphanet] 132 / 7739
3
 (HPO:0000153) Abnormality of the mouth Very frequent [Orphanet] 60 / 7739
4
 (HPO:0000444) Convex nasal ridge Very frequent [Orphanet] 87 / 7739
5
 (HPO:0009891) Underdeveloped supraorbital ridges Very frequent [Orphanet] 36 / 7739
6
 (HPO:0000154) Wide mouth Very frequent [Orphanet] 137 / 7739
7
 (HPO:0000243) Trigonocephaly Very frequent [Orphanet] 40 / 7739
8
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
9
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
10
 (HPO:0100759) Clubbing of fingers Very frequent [Orphanet] 40 / 7739
11
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
12
 (HPO:0008388) Abnormality of the toenails Very frequent [Orphanet] 28 / 7739
13
 (HPO:0007477) Abnormal dermatoglyphics Very frequent [Orphanet] 72 / 7739
14
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: