MCID: CRN267
MIFTS: 21

Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation

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

Aliases & Classifications for Corneal Hypesthesia with Retinal Abnormalities, Sensorineural...

MalaCards integrated aliases for Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation:

Name: Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation 57
Ramos-Arroyo Syndrome 57 76 59
Corneal Anesthesia-Deafness-Intellectual Disability Syndrome 59
Ramos Arroyo Clark Syndrome 73

Characteristics:

Orphanet epidemiological data:

59
ramos-arroyo syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Corneal Hypesthesia with Retinal Abnormalities, Sensorineural...

MalaCards based summary : Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation, also known as ramos-arroyo syndrome, is related to ramos arroyo clark syndrome. Affiliated tissues include eye, and related phenotypes are malar flattening and hypertelorism

Wikipedia : 76 Ramos-Arroyo syndrome is marked by corneal anesthesia, absence of the peripapillary choriocapillaris and... more...

Description from OMIM: 122430

Related Diseases for Corneal Hypesthesia with Retinal Abnormalities, Sensorineural...

Diseases related to Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ramos arroyo clark syndrome 11.8

Symptoms & Phenotypes for Corneal Hypesthesia with Retinal Abnormalities, Sensorineural...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
absent retinal pigment epithelium
upslanting palpebral fissures
hypesthetic cornea
absent peripapillary choriocapillaris
more
Head And Neck Face:
frontal bossing
midface hypoplasia
broad, flat facies

Head And Neck Nose:
depressed nasal bridge
anteverted nares

Cardiovascular Vascular:
patent ductus arteriosus

Growth Weight:
low weight (<3rd percentile)

Head And Neck Ears:
low-set ears
sensorineural hearing loss

Growth Other:
failure to thrive

Growth Height:
short stature

Neurologic Central Nervous System:
mental retardation

Skin Nails Hair Hair:
flared eyebrows


Clinical features from OMIM:

122430

Human phenotypes related to Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 hypertelorism 32 HP:0000316
3 low-set ears 32 HP:0000369
4 frontal bossing 32 HP:0002007
5 intellectual disability 32 HP:0001249
6 failure to thrive 32 HP:0001508
7 depressed nasal bridge 32 HP:0005280
8 sensorineural hearing impairment 32 HP:0000407
9 anteverted nares 32 HP:0000463
10 visual impairment 32 HP:0000505
11 short stature 32 HP:0004322
12 patent ductus arteriosus 32 HP:0001643
13 reduced visual acuity 32 HP:0007663
14 keratitis 32 HP:0000491
15 upslanted palpebral fissure 32 HP:0000582
16 midface retrusion 32 HP:0011800
17 abnormality of the hair 32 HP:0001595
18 decreased corneal sensation 32 HP:0012155
19 broad eyebrow 32 HP:0011229
20 absent retinal pigment epithelium 32 HP:0007980

Drugs & Therapeutics for Corneal Hypesthesia with Retinal Abnormalities, Sensorineural...

Search Clinical Trials , NIH Clinical Center for Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation

Genetic Tests for Corneal Hypesthesia with Retinal Abnormalities, Sensorineural...

Anatomical Context for Corneal Hypesthesia with Retinal Abnormalities, Sensorineural...

MalaCards organs/tissues related to Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation:

41
Eye

Publications for Corneal Hypesthesia with Retinal Abnormalities, Sensorineural...

Articles related to Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation:

# Title Authors Year
1
Ramos-Arroyo syndrome: confirmation of an entity. ( 21910235 )
2011
2
Ramos-Arroyo syndrome: long-term follow-up of previously reported family. ( 18241069 )
2008

Variations for Corneal Hypesthesia with Retinal Abnormalities, Sensorineural...

Expression for Corneal Hypesthesia with Retinal Abnormalities, Sensorineural...

Search GEO for disease gene expression data for Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation.

Pathways for Corneal Hypesthesia with Retinal Abnormalities, Sensorineural...

GO Terms for Corneal Hypesthesia with Retinal Abnormalities, Sensorineural...

Sources for Corneal Hypesthesia with Retinal Abnormalities, Sensorineural...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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