MCID: ECT096
MIFTS: 11

Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet

Aliases & Classifications for Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance...

MalaCards integrated aliases for Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet:

Name: Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 56

Characteristics:

OMIM:

56
Inheritance:
isolated cases


HPO:

31
ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet:
Inheritance sporadic


Summaries for Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance...

MalaCards based summary : Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet is related to polydactyly and ectodermal dysplasia. Related phenotypes are malar flattening and depressed nasal bridge

More information from OMIM: 129540

Related Diseases for Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance...

Diseases related to Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 polydactyly 10.5
2 ectodermal dysplasia 10.5

Symptoms & Phenotypes for Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance...

Human phenotypes related to Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 malar flattening 31 HP:0000272
2 depressed nasal bridge 31 HP:0005280
3 carious teeth 31 HP:0000670
4 delayed speech and language development 31 HP:0000750
5 micrognathia 31 HP:0000347
6 alopecia 31 HP:0001596
7 smooth philtrum 31 HP:0000319
8 abnormality of the nail 31 HP:0001597
9 telecanthus 31 HP:0000506
10 clinodactyly of the 5th finger 31 HP:0004209
11 thin upper lip vermilion 31 HP:0000219
12 sparse eyelashes 31 HP:0000653
13 preaxial polydactyly 31 HP:0100258
14 hypoplasia of dental enamel 31 HP:0006297
15 ectodermal dysplasia 31 HP:0000968
16 midline notch of upper alveolar ridge 31 HP:0009084
17 sparse and thin eyebrow 31 HP:0000535
18 complete duplication of the 1st metatarsal 31 HP:0010098

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
micrognathia
malar hypoplasia
flat philtrum

Skin Nails Hair Hair:
sparse eyelashes
sparse eyebrows
scalp alopecia
body alopecia

Head And Neck Mouth:
midline notch of upper alveolar ridge
thin upper lip
thickened frenulum

Head And Neck Nose:
flat nasal bridge

Head And Neck Teeth:
dental caries
thin dental enamel

Head And Neck Eyes:
sparse eyelashes
sparse eyebrows
dystopia canthorum

Skeletal Feet:
preaxial polydactyly
duplicated halluces
duplicated first metatarsals

Skeletal Hands:
fifth finger clinodactyly

Neurologic Central Nervous System:
language delay

Skin Nails Hair Nails:
rounded nails

Clinical features from OMIM:

129540

Drugs & Therapeutics for Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance...

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet

Genetic Tests for Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance...

Anatomical Context for Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance...

Publications for Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance...

Articles related to Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet:

# Title Authors PMID Year
1
"New" ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet. 61 56
2817002 1989

Variations for Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance...

Expression for Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance...

Search GEO for disease gene expression data for Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet.

Pathways for Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance...

GO Terms for Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance...

Sources for Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance...

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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