MCID: ORL024
MIFTS: 14

Oral and Digital Anomalies with Ichthyosis

Categories: Fetal diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Oral and Digital Anomalies with Ichthyosis

MalaCards integrated aliases for Oral and Digital Anomalies with Ichthyosis:

Name: Oral and Digital Anomalies with Ichthyosis 57 20
Unusual Facies, Digital Abnormalities, and Ichthyosis 20
Ichthyosis-Oral and Digital Anomalies Syndrome 58
Ichthyosis Tapered Fingers Midline Groove Up 20
Clayton Smith-Donnai Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
ichthyosis-oral and digital anomalies syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
oral and digital anomalies with ichthyosis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 258840
UMLS via Orphanet 71 C1850268
Orphanet 58 ORPHA2272
MedGen 41 C1850268
SNOMED-CT via HPO 68 14582003 249768009 258211005

Summaries for Oral and Digital Anomalies with Ichthyosis

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2272 Definition Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive.

MalaCards based summary : Oral and Digital Anomalies with Ichthyosis, also known as unusual facies, digital abnormalities, and ichthyosis, is related to ichthyosis. Related phenotypes are narrow mouth and thin upper lip vermilion

More information from OMIM: 258840

Related Diseases for Oral and Digital Anomalies with Ichthyosis

Diseases related to Oral and Digital Anomalies with Ichthyosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ichthyosis 10.2

Symptoms & Phenotypes for Oral and Digital Anomalies with Ichthyosis

Human phenotypes related to Oral and Digital Anomalies with Ichthyosis:

31
# Description HPO Frequency HPO Source Accession
1 narrow mouth 31 HP:0000160
2 thin upper lip vermilion 31 HP:0000219
3 tapered finger 31 HP:0001182
4 absent distal interphalangeal creases 31 HP:0001032
5 postnatal-onset ichthyosiform erythroderma 31 HP:0007395

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
H E E N T:
thin upper lip
small mouth
midline groove in lower lip

Skin:
postnatal-onset ichthyosis

Limbs:
tapered fingers
distal finger flexion creases absent
gap between second and third fingers

Clinical features from OMIM®:

258840 (Updated 05-Apr-2021)

Drugs & Therapeutics for Oral and Digital Anomalies with Ichthyosis

Search Clinical Trials , NIH Clinical Center for Oral and Digital Anomalies with Ichthyosis

Genetic Tests for Oral and Digital Anomalies with Ichthyosis

Anatomical Context for Oral and Digital Anomalies with Ichthyosis

Publications for Oral and Digital Anomalies with Ichthyosis

Articles related to Oral and Digital Anomalies with Ichthyosis:

# Title Authors PMID Year
1
A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis. 57 61
2732996 1989

Variations for Oral and Digital Anomalies with Ichthyosis

Expression for Oral and Digital Anomalies with Ichthyosis

Search GEO for disease gene expression data for Oral and Digital Anomalies with Ichthyosis.

Pathways for Oral and Digital Anomalies with Ichthyosis

GO Terms for Oral and Digital Anomalies with Ichthyosis

Sources for Oral and Digital Anomalies with Ichthyosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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