Trigonocephaly - bifid nose - acral anomalies

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr: 3368
OMIM Id: 275595
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000154) Wide mouth Very frequent [Orphanet] 137 / 7739
2
 (HPO:0011803) Bifid nose 12 / 7739
3
 (HPO:0000243) Trigonocephaly Very frequent [Orphanet] 40 / 7739
4
 (HPO:0000347) Micrognathia 426 / 7739
5
 (HPO:0005487) Prominent metopic ridge Very frequent [Orphanet] 28 / 7739
6
 (HPO:0000414) Bulbous nose 63 / 7739
7
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
8
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
9
 (HPO:0000341) Narrow forehead Very frequent [Orphanet] 96 / 7739
10
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
11
 (HPO:0000456) Bifid nasal tip 11 / 7739
12
 (HPO:0000366) Abnormality of the nose Very frequent [Orphanet] 56 / 7739
13
 (HPO:0011344) Severe global developmental delay 46 / 7739
14
 (HPO:0006009) Broad phalanx 11 / 7739
15
 (HPO:0001783) Broad metatarsal 9 / 7739
16
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
17
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
18
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
 (OMIM) Broad metatarsals and phalanges 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: