MCID: SPC024
MIFTS: 18

Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease

Categories: Ear diseases, Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Speech Development, Delayed, with Facial Asymmetry, Strabismus,...

MalaCards integrated aliases for Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease:

Name: Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 56 29
Mehes Syndrome 58 71
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome 58

Characteristics:

Orphanet epidemiological data:

58

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 182875
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 72 C2931119
Orphanet 58 ORPHA3038
MedGen 41 C1866802
UMLS 71 C2931119

Summaries for Speech Development, Delayed, with Facial Asymmetry, Strabismus,...

MalaCards based summary : Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease, also known as mehes syndrome, is related to mehes syndrome and ulnar/fibular ray defect and brachydactyly. Affiliated tissues include eye, and related phenotypes are hypertelorism and delayed speech and language development

More information from OMIM: 182875

Related Diseases for Speech Development, Delayed, with Facial Asymmetry, Strabismus,...

Diseases related to Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mehes syndrome 12.3
2 ulnar/fibular ray defect and brachydactyly 11.2

Symptoms & Phenotypes for Speech Development, Delayed, with Facial Asymmetry, Strabismus,...

Human phenotypes related to Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
3 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
4 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
5 facial asymmetry 58 31 hallmark (90%) Very frequent (99-80%) HP:0000324
6 anterior creases of earlobe 58 31 hallmark (90%) Very frequent (99-80%) HP:0009908
7 exotropia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000577
8 unilateral narrow palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0007946
9 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
10 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
11 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
12 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
13 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
14 strabismus 58 31 Very frequent (99-80%) HP:0000486
15 specific learning disability 31 HP:0001328
16 unilateral ptosis 31 HP:0007687

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
strabismus
narrow palpebral fissure, unilateral
ptosis, unilateral

Head And Neck Face:
facial asymmetry
long philtrum

Skeletal Skull:
decreased orbital diameter, unilateral
thin zygomatic arch, unilateral

Head And Neck Ears:
low-set ears
transverse earlobe creases

Neurologic Central Nervous System:
learning disability
delayed speech development
decreased iq (some patients)

Clinical features from OMIM:

182875

Drugs & Therapeutics for Speech Development, Delayed, with Facial Asymmetry, Strabismus,...

Search Clinical Trials , NIH Clinical Center for Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease

Genetic Tests for Speech Development, Delayed, with Facial Asymmetry, Strabismus,...

Genetic tests related to Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease:

# Genetic test Affiliating Genes
1 Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 29

Anatomical Context for Speech Development, Delayed, with Facial Asymmetry, Strabismus,...

MalaCards organs/tissues related to Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease:

40
Eye

Publications for Speech Development, Delayed, with Facial Asymmetry, Strabismus,...

Articles related to Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease:

# Title Authors PMID Year
1
Delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases: a new syndrome? 56
8423614 1993

Variations for Speech Development, Delayed, with Facial Asymmetry, Strabismus,...

Expression for Speech Development, Delayed, with Facial Asymmetry, Strabismus,...

Search GEO for disease gene expression data for Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease.

Pathways for Speech Development, Delayed, with Facial Asymmetry, Strabismus,...

GO Terms for Speech Development, Delayed, with Facial Asymmetry, Strabismus,...

Sources for Speech Development, Delayed, with Facial Asymmetry, Strabismus,...

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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