MCID: SPC024
MIFTS: 17

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 57 29
Mehes Syndrome 59 72
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome 59

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 182875
ICD10 via Orphanet 34 Q87.0
UMLS via Orphanet 73 C2931119
Orphanet 59 ORPHA3038
MedGen 42 C1866802
UMLS 72 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 low-set ears

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:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
3 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
4 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
5 facial asymmetry 59 32 hallmark (90%) Very frequent (99-80%) HP:0000324
6 anterior creases of earlobe 59 32 hallmark (90%) Very frequent (99-80%) HP:0009908
7 exotropia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000577
8 unilateral narrow palpebral fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0007946
9 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
10 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
11 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
12 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
13 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0000463
14 strabismus 59 32 Very frequent (99-80%) HP:0000486
15 specific learning disability 32 HP:0001328
16 unilateral ptosis 32 HP:0007687

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
transverse earlobe creases

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

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

Head And Neck Face:
long philtrum
facial asymmetry

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:

41
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? 8
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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