Acro-oto-ocular syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: AOO SYNDROME
ACROOTOOCULAR SYNDROME
Pseudopapilledema - blepharophimosis - hand anomalies
Number of Symptoms 84
OrphanetNr: 2980
OMIM Id: 264475
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Ptosis
 -Rare eye disease
 -Rare genetic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000430) Underdeveloped nasal alae Occasional [Orphanet] 90 / 7739
2
 (HPO:0000218) High palate 356 / 7739
3
 (HPO:0000689) Dental malocclusion Frequent [Orphanet] 114 / 7739
4
 (HPO:0000664) Synophrys Occasional [Orphanet] 112 / 7739
5
 (HPO:0009796) Branchial cyst Occasional [Orphanet] 32 / 7739
6
 (HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
7
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
8
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
9
 (HPO:0000684) Delayed eruption of teeth Very frequent [Orphanet] 117 / 7739
10
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
11
 (HPO:0000189) Narrow palate 45 / 7739
12
 (HPO:0000601) Hypotelorism Frequent [Orphanet] 83 / 7739
13
 (HPO:0000341) Narrow forehead Occasional [Orphanet] 96 / 7739
14
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
15
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
16
 (HPO:0011069) Increased number of teeth Occasional [Orphanet] 39 / 7739
17
 (HPO:0006482) Abnormality of dental morphology Occasional [Orphanet] 81 / 7739
18
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
19
 (HPO:0000674) Anodontia 18 / 7739
20
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
21
 (HPO:0011073) Abnormality of dental color Frequent [Orphanet] 24 / 7739
22
 (HPO:0000347) Micrognathia 426 / 7739
23
 (HPO:0000538) Pseudopapilledema 4 / 7739
24
 (HPO:0000372) Abnormality of the auditory canal Frequent [Orphanet] 49 / 7739
25
 (HPO:0000405) Conductive hearing impairment Very frequent [Orphanet] 164 / 7739
26
 (HPO:0000369) Low-set ears 372 / 7739
27
 (HPO:0000413) Atresia of the external auditory canal 32 / 7739
28
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
29
 (HPO:0000389) Chronic otitis media Occasional [Orphanet] 64 / 7739
30
 (HPO:0000365) Hearing impairment 539 / 7739
31
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
32
 (HPO:0002353) EEG abnormality Occasional [Orphanet] 188 / 7739
33
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
34
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
35
 (HPO:0000738) Hallucinations Occasional [Orphanet] 60 / 7739
36
 (HPO:0000824) Growth hormone deficiency 56 / 7739
37
 (HPO:0005720) Shortening of all metacarpals 12 / 7739
38
 (HPO:0002751) Kyphoscoliosis 131 / 7739
39
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
40
 (HPO:0009803) Short phalanx of finger 79 / 7739
41
 (HPO:0001852) Sandal gap Very frequent [Orphanet] 63 / 7739
42
 (HPO:0006487) Bowing of the long bones Occasional [Orphanet] 95 / 7739
43
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
44
 (HPO:0010488) Aplasia/Hypoplasia of the palmar creases Very frequent [Orphanet] 15 / 7739
45
 (HPO:0001163) Abnormality of the metacarpal bones Occasional [Orphanet] 149 / 7739
46
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 244 / 7739
47
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Frequent [Orphanet] 69 / 7739
48
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
49
 (HPO:0001773) Short foot Frequent [Orphanet] 86 / 7739
50
 (HPO:0001172) Abnormality of the thumb Occasional [Orphanet] 103 / 7739
51
 (HPO:0002857) Genu valgum Occasional [Orphanet] 144 / 7739
52
 (HPO:0000954) Single transverse palmar crease Very frequent [Orphanet] 162 / 7739
53
 (HPO:0001770) Toe syndactyly Very frequent [Orphanet] 149 / 7739
54
 (HPO:0010049) Short metacarpal 99 / 7739
55
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
56
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
57
 (HPO:0001438) Abnormality of the abdomen 28 / 7739
58
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
59
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
60
 (HPO:0001508) Failure to thrive 454 / 7739
61
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
62
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
63
 (HPO:0001805) Thick nail Occasional [Orphanet] 96 / 7739
64
 (HPO:0000995) Melanocytic nevus Frequent [Orphanet] 63 / 7739
65
 (HPO:0001054) Numerous nevi 8 / 7739
66
 (HPO:0000957) Cafe-au-lait spot Frequent [Orphanet] 84 / 7739
67
 (HPO:0002205) Recurrent respiratory infections Occasional [Orphanet] 254 / 7739
68
 (OMIM) Absence of sulcus orbitopalpebralis superior (upper eyelid crease) 1 / 7739
69
 (OMIM) Single flexion crease fingers 2, 3, +/-5 1 / 7739
70
 (OMIM) Darkly colored teeth (reddish-brown) 1 / 7739
71
 (OMIM) Zygodactyly 1 / 7739
72
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739
73
 (OMIM) Partial growth hormone deficiency 1 / 7739
74
 (OMIM) Palmar keratosis 1 / 7739
75
 (OMIM) Birthweight <10th percentile 1 / 7739
76
 (MedDRA:10027757) Mixed deafness 1 / 7739
77
 (OMIM) Protruding calcaneus 1 / 7739
78
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
79
 (OMIM) Hypoplastic thenar, hypothenar, and interdigital eminences 1 / 7739
80
 (OMIM) Poorly developed palmar creases 1 / 7739
81
 (HPO:0012810) Wide nasal base 3 / 7739
82
 (OMIM) Broad nasal base 2 / 7739
83
 (OMIM) Multiple episodes of choking (1st year of life) 1 / 7739
84
 (OMIM) Short 3rd-4th toes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 3 individuals from 2 inbred sibships of a Brazilian kindred, Paes-Alves et al. (1991) described a syndrome characterized by malformation of the face, ears, hands and feet, associated with mixed deafness and pseudopapilledema. Facial features included ocular ...