MCID: MHS001
MIFTS: 7

Mehes Syndrome

Categories: Ear diseases, Rare diseases

Aliases & Classifications for Mehes Syndrome

MalaCards integrated aliases for Mehes Syndrome:

Name: Mehes Syndrome 52 71
Delayed Speech Development, Facial Asymmetry, Strabismus, and Transverse Ear Lobe Creases 52

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Ear diseases


External Ids:

UMLS 71 C2931119

Summaries for Mehes Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3038 Definition This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases. Epidemiology To date, six cases have been reported in five families. Clinical description Dysmorphic features include asymmetrical face, unilateral narrow palpebral fissure, divergent strabismus, long philtrum, high-arched palate, apparently low-set ears and transverse ear lobe creases on both sides. Delayed language development is constant but intellectual development can be normal. Genetic counseling In one family, the transmission was compatible with either autosomal dominant or X-linked dominant inheritance. Visit the Orphanet disease page for more resources.

MalaCards based summary : Mehes Syndrome, also known as delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases, is related to speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease and ulnar/fibular ray defect and brachydactyly.

Related Diseases for Mehes Syndrome

Diseases related to Mehes Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease 11.4
2 ulnar/fibular ray defect and brachydactyly 11.2
3 strabismus 10.5
4 mechanical strabismus 10.5

Symptoms & Phenotypes for Mehes Syndrome

Drugs & Therapeutics for Mehes Syndrome

Search Clinical Trials , NIH Clinical Center for Mehes Syndrome

Genetic Tests for Mehes Syndrome

Anatomical Context for Mehes Syndrome

Publications for Mehes Syndrome

Articles related to Mehes Syndrome:

# Title Authors PMID Year
1
Delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases: a new syndrome? 61
8423614 1993

Variations for Mehes Syndrome

Expression for Mehes Syndrome

Search GEO for disease gene expression data for Mehes Syndrome.

Pathways for Mehes Syndrome

GO Terms for Mehes Syndrome

Sources for Mehes Syndrome

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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