Corneal anesthesia - deafness - intellectual deficit

General Information (adopted from Orphanet):

Synonyms, Signs: ramos-arroyo syndrome
Number of Symptoms 39
OrphanetNr: 1051
OMIM Id: 122430
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
2
 (HPO:0000491) Keratitis 21 / 7739
3
 (HPO:0001131) Corneal dystrophy Very frequent [Orphanet] 56 / 7739
4
 (HPO:0012155) Decreased corneal sensation 5 / 7739
5
 (HPO:0000510) Rod-cone dystrophy Very frequent [Orphanet] 266 / 7739
6
 (HPO:0007980) Absent retinal pigment epithelium 1 / 7739
7
 (HPO:0000505) Visual impairment 297 / 7739
8
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
9
 (HPO:0007663) Reduced visual acuity 100 / 7739
10
 (HPO:0100533) Inflammatory abnormality of the eye Very frequent [Orphanet] 70 / 7739
11
 (HPO:0000632) Lacrimation abnormality Very frequent [Orphanet] 42 / 7739
12
 (HPO:0004322) Short stature 1232 / 7739
13
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
14
 (HPO:0001508) Failure to thrive 454 / 7739
15
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
16
 (HPO:0001643) Patent ductus arteriosus Frequent [Orphanet] 228 / 7739
17
 (HPO:0002251) Aganglionic megacolon Frequent [Orphanet] 78 / 7739
18
 (HPO:0001249) Intellectual disability 1089 / 7739
19
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
20
 (HPO:0011229) Broad eyebrow 9 / 7739
21
 (HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
22
 (HPO:0100729) Large face Very frequent [Orphanet] 19 / 7739
23
 (HPO:0000272) Malar flattening 277 / 7739
24
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
25
 (HPO:0000582) Upslanted palpebral fissure Very frequent [Orphanet] 185 / 7739
26
 (HPO:0000463) Anteverted nares 305 / 7739
27
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
28
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
29
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
30
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
31
 (HPO:0000369) Low-set ears 372 / 7739
32
 (HPO:0002104) Apnea Occasional [Orphanet] 106 / 7739
33
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
34
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
35
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
36
 (OMIM) Absent peripapillary choriocapillaris 1 / 7739
37
 (OMIM) Broad, flat facies 1 / 7739
38
 (OMIM) Corneal keratitis 1 / 7739
39
 (OMIM) Hypesthetic cornea 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ramos-Arroyo et al. (1987) described a sister and brother with a seemingly 'new' syndrome consisting of hypesthetic corneas, absence of peripapillary choriocapillaris and retinal pigment epithelium, bilateral sensorineural hearing loss, persistent ductus arteriosus (see 607411), moderate mental retardation, ...