MCID: TRG007
MIFTS: 19

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

Categories: Rare diseases, Smell/Taste diseases, Fetal 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 53 49
Trigonobrachycephaly, Bulbous Bifid Nose, Macrostomia, Micrognathia, Acral Anomalies, and Hypotonia 49
Trigonocephaly-Bifid Nose-Acral Anomalies Syndrome 55
Trigonocephaly - Bifid Nose - Acral Anomalies 49
Trigonocephaly Bifid Nose Acral Anomalies 49

Characteristics:

Orphanet epidemiological data:

55
trigonocephaly-bifid nose-acral anomalies syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 275595
Orphanet 55 ORPHA3368
UMLS via Orphanet 70 C1848743
ICD10 via Orphanet 33 Q87.0
MedGen 39 C1848743

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

NIH Rare Diseases : 49 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 macrostomia, isolated and bifid nose, and has symptoms including brachycephaly, micrognathia and severe global developmental delay.

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:

# Related Disease Score Top Affiliating Genes
1 macrostomia, isolated 10.6
2 bifid nose 10.6
3 hypotonia 10.6

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

Symptoms via clinical synopsis from OMIM:

53
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:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 brachycephaly 31 HP:0000248
2 micrognathia 31 HP:0000347
3 severe global developmental delay 31 HP:0011344
4 bulbous nose 31 HP:0000414
5 prominent metopic ridge 31 HP:0005487
6 trigonocephaly 31 HP:0000243
7 bifid nose 31 HP:0011803
8 broad metatarsal 31 HP:0001783
9 bifid nasal tip 31 HP:0000456
10 narrow forehead 31 HP:0000341
11 broad phalanx 31 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...

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

# Title Authors Year
1
Trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia in sibs. ( 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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