MCID: TRG007
MIFTS: 17

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 56 52
Trigonobrachycephaly, Bulbous Bifid Nose, Macrostomia, Micrognathia, Acral Anomalies, and Hypotonia 52
Trigonocephaly-Bifid Nose-Acral Anomalies Syndrome 58
Trigonocephaly - Bifid Nose - Acral Anomalies 52
Trigonocephaly Bifid Nose Acral Anomalies 52

Characteristics:

Orphanet epidemiological data:

58
trigonocephaly-bifid nose-acral anomalies syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

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


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 275595
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 72 C1848743
Orphanet 58 ORPHA3368
MedGen 41 C1848743

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

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3368 Definition A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia ), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature , hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991. 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 micrognathia

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:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 micrognathia 31 HP:0000347
3 brachycephaly 31 HP:0000248
4 narrow forehead 31 HP:0000341
5 severe global developmental delay 31 HP:0011344
6 trigonocephaly 31 HP:0000243
7 bulbous nose 31 HP:0000414
8 prominent metopic ridge 31 HP:0005487
9 bifid nose 31 HP:0011803
10 broad metatarsal 31 HP:0001783
11 bifid nasal tip 31 HP:0000456
12 broad phalanx 31 HP:0006009

Symptoms via clinical synopsis from OMIM:

56
Facies:
micrognathia
bulbous nose
bifid nasal tip

Neuro:
severe psychomotor retardation

Head:
brachycephaly
narrow forehead
trigonocephaly
prominent metopic sutures

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. 61 56
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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