Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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

delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
Prevalence: <1/1000000 (Worldwide);

OMIM:

⁵⁶

Inheritance:
autosomal dominant

HPO:

³¹

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

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Ear diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly affecting facial appearance

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

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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

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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

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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

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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

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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

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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

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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	Mehes K	8423614	1993

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

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

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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.

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

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

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

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