MCID: FRN047
MIFTS: 15

Frontonasal Dysplasia with Alar Clefts

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Frontonasal Dysplasia with Alar Clefts

MalaCards integrated aliases for Frontonasal Dysplasia with Alar Clefts:

Name: Frontonasal Dysplasia with Alar Clefts 56 52
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome 58
Alar-Nasal Cartilages, Coloboma of, with Telecanthus 56
Coloboma of Alar-Nasal Cartilages with Telecanthus 52

Characteristics:

Orphanet epidemiological data:

58
alar cartilages hypoplasia-coloboma-telecanthus syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
frontonasal dysplasia with alar clefts:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 203000
ICD10 via Orphanet 33 Q75.8
UMLS via Orphanet 72 C1859964
Orphanet 58 ORPHA2007
MedGen 41 C1859964

Summaries for Frontonasal Dysplasia with Alar Clefts

MalaCards based summary : Frontonasal Dysplasia with Alar Clefts, also known as alar cartilages hypoplasia-coloboma-telecanthus syndrome, is related to frontonasal dysplasia 1. Affiliated tissues include bone, and related phenotypes are hypertelorism and wide nasal bridge

More information from OMIM: 203000

Related Diseases for Frontonasal Dysplasia with Alar Clefts

Diseases related to Frontonasal Dysplasia with Alar Clefts via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 frontonasal dysplasia 1 10.3

Symptoms & Phenotypes for Frontonasal Dysplasia with Alar Clefts

Human phenotypes related to Frontonasal Dysplasia with Alar Clefts:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
3 underdeveloped nasal alae 58 31 hallmark (90%) Very frequent (99-80%) HP:0000430
4 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
5 non-midline cleft lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0100335
6 convex nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000444
7 cleft ala nasi 58 31 hallmark (90%) Very frequent (99-80%) HP:0003191

Symptoms via clinical synopsis from OMIM:

56
Eyes:
telecanthus

Nose:
alar cartilage hypoplasia
alar clefts

Clinical features from OMIM:

203000

Drugs & Therapeutics for Frontonasal Dysplasia with Alar Clefts

Search Clinical Trials , NIH Clinical Center for Frontonasal Dysplasia with Alar Clefts

Genetic Tests for Frontonasal Dysplasia with Alar Clefts

Anatomical Context for Frontonasal Dysplasia with Alar Clefts

MalaCards organs/tissues related to Frontonasal Dysplasia with Alar Clefts:

40
Bone

Publications for Frontonasal Dysplasia with Alar Clefts

Articles related to Frontonasal Dysplasia with Alar Clefts:

# Title Authors PMID Year
1
Frontonasal dysplasia with alar clefts in two sisters. Genetic considerations and surgical correction. 61 56
1273139 1976

Variations for Frontonasal Dysplasia with Alar Clefts

Expression for Frontonasal Dysplasia with Alar Clefts

Search GEO for disease gene expression data for Frontonasal Dysplasia with Alar Clefts.

Pathways for Frontonasal Dysplasia with Alar Clefts

GO Terms for Frontonasal Dysplasia with Alar Clefts

Sources for Frontonasal Dysplasia with Alar Clefts

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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