MCID: TRG007
MIFTS: 16

Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet

Categories: Fetal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and...

MalaCards integrated aliases for Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet:

Name: Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 57 53
Trigonobrachycephaly, Bulbous Bifid Nose, Macrostomia, Micrognathia, Acral Anomalies, and Hypotonia 53
Trigonocephaly-Bifid Nose-Acral Anomalies Syndrome 59
Trigonocephaly - Bifid Nose - Acral Anomalies 53
Trigonocephaly Bifid Nose Acral Anomalies 53

Characteristics:

Orphanet epidemiological data:

59
trigonocephaly-bifid nose-acral anomalies syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 275595
ICD10 via Orphanet 34 Q87.0
UMLS via Orphanet 73 C1848743
Orphanet 59 ORPHA3368
MedGen 42 C1848743

Summaries for Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and...

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3368DefinitionTrigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges. There has been no further descriptions in the literature since 1991.EpidemiologyIt has been described in a brother and his sister born to consanguineous parents.Visit the Orphanet disease page for more resources.

MalaCards based summary : Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet, also known as trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia, is related to macrostomia, isolated and bifid nose. Related phenotypes are global developmental delay and brachycephaly

More information from OMIM: 275595

Related Diseases for Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and...

Diseases related to Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 macrostomia, isolated 10.8
2 bifid nose 10.8
3 hypotonia 10.8

Symptoms & Phenotypes for Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and...

Human phenotypes related to Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 HP:0001263
2 brachycephaly 32 HP:0000248
3 micrognathia 32 HP:0000347
4 narrow forehead 32 HP:0000341
5 severe global developmental delay 32 HP:0011344
6 trigonocephaly 32 HP:0000243
7 bulbous nose 32 HP:0000414
8 prominent metopic ridge 32 HP:0005487
9 bifid nose 32 HP:0011803
10 broad metatarsal 32 HP:0001783
11 bifid nasal tip 32 HP:0000456
12 broad phalanx 32 HP:0006009

Symptoms via clinical synopsis from OMIM:

57
Head:
brachycephaly
narrow forehead
trigonocephaly
prominent metopic sutures

Neuro:
severe psychomotor retardation

Facies:
micrognathia
bulbous nose
bifid nasal tip

Limbs:
broad metatarsals and phalanges

Clinical features from OMIM:

275595

Drugs & Therapeutics for Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and...

Search Clinical Trials , NIH Clinical Center for Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet

Genetic Tests for Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and...

Anatomical Context for Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and...

Publications for Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and...

Articles related to Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet:

# Title Authors PMID Year
1
Trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia in sibs. 38 8
2063891 1991

Variations for Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and...

Expression for Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and...

Search GEO for disease gene expression data for Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet.

Pathways for Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and...

GO Terms for Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and...

Sources for Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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