MCID: TRG007
MIFTS: 18

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 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
Orphanet 59 ORPHA3368
UMLS via Orphanet 74 C1848743
ICD10 via Orphanet 34 Q87.0
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: 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.

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. Related phenotypes are trigonocephaly and brachycephaly

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 bifid nose 10.6
2 hypotonia 10.6

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

Symptoms via clinical synopsis from OMIM:

57
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 12)
# Description HPO Frequency HPO Source Accession
1 trigonocephaly 32 HP:0000243
2 brachycephaly 32 HP:0000248
3 narrow forehead 32 HP:0000341
4 micrognathia 32 HP:0000347
5 bulbous nose 32 HP:0000414
6 bifid nasal tip 32 HP:0000456
7 global developmental delay 32 HP:0001263
8 broad metatarsal 32 HP:0001783
9 prominent metopic ridge 32 HP:0005487
10 broad phalanx 32 HP:0006009
11 severe global developmental delay 32 HP:0011344
12 bifid nose 32 HP:0011803

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
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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