MCID: ORL024
MIFTS: 15

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 56 52
Unusual Facies, Digital Abnormalities, and Ichthyosis 52
Ichthyosis-Oral and Digital Anomalies Syndrome 58
Ichthyosis Tapered Fingers Midline Groove Up 52
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:

56
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 56 258840
UMLS via Orphanet 72 C1850268
Orphanet 58 ORPHA2272
MedGen 41 C1850268
SNOMED-CT via HPO 68 14582003 249768009 258211005

Summaries for Oral and Digital Anomalies with Ichthyosis

NIH Rare Diseases : 52 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 . Visit the Orphanet disease page for more resources.

MalaCards based summary : Oral and Digital Anomalies with Ichthyosis, also known as unusual facies, digital abnormalities, and ichthyosis, is related to ichthyosis. Affiliated tissues include skin, and 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:

56
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

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

MalaCards organs/tissues related to Oral and Digital Anomalies with Ichthyosis:

40
Skin

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. 61 56
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
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
Content
Loading form....