MCID: TRG007
MIFTS: 16

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

Categories: Rare diseases, Fetal 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 54 50
Trigonobrachycephaly, Bulbous Bifid Nose, Macrostomia, Micrognathia, Acral Anomalies, and Hypotonia 50
Trigonocephaly-Bifid Nose-Acral Anomalies Syndrome 56
Trigonocephaly - Bifid Nose - Acral Anomalies 50
Trigonocephaly Bifid Nose Acral Anomalies 50

Characteristics:

Orphanet epidemiological data:

56
trigonocephaly-bifid nose-acral anomalies syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
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 54 275595
Orphanet 56 ORPHA3368
UMLS via Orphanet 70 C1848743
ICD10 via Orphanet 34 Q87.0

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

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 3368disease definitiontrigonocephaly-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.epidemiologyit has been described in a brother and his sister born to consanguineous parents.visit the orphanet disease page for more resources. last updated: 2/22/2007

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 bifid nose and hypotonia, and has symptoms including bulbous nose, micrognathia and trigonocephaly.

Description 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:

id Related Disease Score Top Affiliating Genes
1 bifid nose 10.5
2 hypotonia 10.5

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

Symptoms via clinical synopsis from OMIM:

54

Head:
trigonocephaly
brachycephaly
prominent metopic sutures
narrow forehead

Limbs:
broad metatarsals and phalanges

Facies:
bulbous nose
bifid nasal tip
micrognathia

Neuro:
severe psychomotor retardation


Clinical features from OMIM:

275595

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

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

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...

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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