MCID: CRN267
MIFTS: 23

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 58
Ramos-Arroyo Syndrome 58 77 60
Corneal Anesthesia-Deafness-Intellectual Disability Syndrome 60
Ramos Arroyo Clark Syndrome 74

Characteristics:

Orphanet epidemiological data:

60
ramos-arroyo syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
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 tongue and eye, and related phenotypes are decreased corneal sensation and abnormality of the midface

Wikipedia : 77 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...

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

60 33 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased corneal sensation 60 33 hallmark (90%) Very frequent (99-80%) HP:0012155
2 abnormality of the midface 60 33 hallmark (90%) Very frequent (99-80%) HP:0000309
3 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
4 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
5 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
6 depressed nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0005280
7 prominent forehead 60 33 frequent (33%) Frequent (79-30%) HP:0011220
8 patent ductus arteriosus 60 33 frequent (33%) Frequent (79-30%) HP:0001643
9 concave nasal ridge 60 33 frequent (33%) Frequent (79-30%) HP:0011120
10 reduced visual acuity 60 33 frequent (33%) Frequent (79-30%) HP:0007663
11 aganglionic megacolon 60 33 frequent (33%) Frequent (79-30%) HP:0002251
12 keratitis 60 33 frequent (33%) Frequent (79-30%) HP:0000491
13 upslanted palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0000582
14 severe short stature 60 33 frequent (33%) Frequent (79-30%) HP:0003510
15 nasolacrimal duct obstruction 60 33 frequent (33%) Frequent (79-30%) HP:0000579
16 severe failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001525
17 delayed gross motor development 60 33 frequent (33%) Frequent (79-30%) HP:0002194
18 bilateral sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0008619
19 broad face 60 33 frequent (33%) Frequent (79-30%) HP:0000283
20 absent retinal pigment epithelium 60 33 frequent (33%) Frequent (79-30%) HP:0007980
21 abnormal autonomic nervous system physiology 60 33 frequent (33%) Frequent (79-30%) HP:0012332
22 choriocapillaris atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0030491
23 carious teeth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000670
24 anteverted nares 60 33 occasional (7.5%) Occasional (29-5%) HP:0000463
25 feeding difficulties in infancy 60 33 occasional (7.5%) Occasional (29-5%) HP:0008872
26 long philtrum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000343
27 respiratory distress 60 33 occasional (7.5%) Occasional (29-5%) HP:0002098
28 atrial septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001631
29 xerostomia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000217
30 narrow mouth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000160
31 sparse scalp hair 60 33 occasional (7.5%) Occasional (29-5%) HP:0002209
32 choanal stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000452
33 high anterior hairline 60 33 occasional (7.5%) Occasional (29-5%) HP:0009890
34 shoulder dimples 60 33 occasional (7.5%) Occasional (29-5%) HP:0010782
35 dacryocystitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000620
36 deviated nasal septum 60 33 occasional (7.5%) Occasional (29-5%) HP:0004411
37 congenital microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0011451
38 self-mutilation 60 33 occasional (7.5%) Occasional (29-5%) HP:0000742
39 sleep-wake cycle disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0006979
40 smooth tongue 60 33 occasional (7.5%) Occasional (29-5%) HP:0010298
41 chronic constipation 60 33 occasional (7.5%) Occasional (29-5%) HP:0012450
42 food intolerance 60 33 occasional (7.5%) Occasional (29-5%) HP:0012537
43 corneal ulceration 60 33 occasional (7.5%) Occasional (29-5%) HP:0012804
44 narrow palpebral fissure 60 33 occasional (7.5%) Occasional (29-5%) HP:0045025
45 malar flattening 33 HP:0000272
46 low-set ears 33 HP:0000369
47 failure to thrive 33 HP:0001508
48 sensorineural hearing impairment 33 HP:0000407
49 visual impairment 33 HP:0000505
50 short stature 33 HP:0004322

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
Tongue, 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
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10 dbSNP
11 DGIdb
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18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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46 MESH via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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