MCID: PSD103
MIFTS: 19

Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and...

MalaCards integrated aliases for Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies:

Name: Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies 57
Acrootoocular Syndrome 57 58 71
Pseudopapilledema-Blepharophimosis-Hand Anomalies Syndrome 58
Aoo Syndrome 57

Characteristics:

Orphanet epidemiological data:

58
acrootoocular syndrome
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and...

MalaCards based summary : Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies, is also known as acrootoocular syndrome. Affiliated tissues include eye and bone, and related phenotypes are failure to thrive and hyperpigmented nevi

More information from OMIM: 264475

Related Diseases for Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and...

Symptoms & Phenotypes for Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and...

Human phenotypes related to Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies:

58 31 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
2 hyperpigmented nevi 58 31 frequent (33%) Frequent (79-30%) HP:0007481
3 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
4 dental malocclusion 58 31 frequent (33%) Frequent (79-30%) HP:0000689
5 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
6 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
7 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
8 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
9 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
10 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
11 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
12 short toe 58 31 frequent (33%) Frequent (79-30%) HP:0001831
13 kyphoscoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002751
14 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
15 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
16 increased number of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0011069
17 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
18 sandal gap 58 31 frequent (33%) Frequent (79-30%) HP:0001852
19 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581
20 hypotelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000601
21 short finger 58 31 frequent (33%) Frequent (79-30%) HP:0009381
22 short metacarpal 58 31 frequent (33%) Frequent (79-30%) HP:0010049
23 atresia of the external auditory canal 58 31 frequent (33%) Frequent (79-30%) HP:0000413
24 abnormality of earlobe 58 31 frequent (33%) Frequent (79-30%) HP:0000363
25 short foot 58 31 frequent (33%) Frequent (79-30%) HP:0001773
26 small for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001518
27 grayish enamel 58 31 frequent (33%) Frequent (79-30%) HP:0000683
28 choking episodes 58 31 frequent (33%) Frequent (79-30%) HP:0030842
29 pseudopapilledema 58 31 frequent (33%) Frequent (79-30%) HP:0000538
30 anodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000674
31 small hypothenar eminence 58 31 frequent (33%) Frequent (79-30%) HP:0010487
32 decreased palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0006184
33 abnormal finger flexion creases 58 31 frequent (33%) Frequent (79-30%) HP:0006143
34 cutaneous syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0012725
35 small thenar eminence 58 31 frequent (33%) Frequent (79-30%) HP:0001245
36 abnormality of facial musculature 58 31 frequent (33%) Frequent (79-30%) HP:0000301
37 palmar hyperkeratosis 58 31 frequent (33%) Frequent (79-30%) HP:0010765
38 prominent calcaneus 58 31 frequent (33%) Frequent (79-30%) HP:0012428
39 wide nasal base 58 31 frequent (33%) Frequent (79-30%) HP:0012810
40 epicanthus 31 frequent (33%) HP:0000286
41 decreased response to growth hormone stimuation test 31 frequent (33%) HP:0000824
42 intellectual disability 58 Excluded (0%)
43 high palate 31 HP:0000218
44 hearing impairment 31 HP:0000365
45 narrow palate 31 HP:0000189
46 finger syndactyly 31 HP:0006101
47 short phalanx of finger 31 HP:0009803
48 growth hormone deficiency 58 Frequent (79-30%)
49 numerous nevi 31 HP:0001054
50 prominent epicanthal folds 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive

Growth Height:
short stature

Head And Neck Ears:
low-set ears
external auditory meatus atresia
mixed deafness

Skeletal Spine:
kyphoscoliosis

Head And Neck Teeth:
anodontia
malocclusion
delayed dental eruption
supernumerary teeth
darkly colored teeth (reddish-brown)

Skeletal Hands:
short fingers
single flexion crease fingers 2, 3, +/-5
hypoplastic thenar, hypothenar, and interdigital eminences
palmar keratosis
partial syndactyly
more
Skin Nails Hair Skin:
multiple pigmented nevi
palmar keratosis
poorly developed palmar creases

Head And Neck Nose:
broad nasal base

Endocrine Features:
partial growth hormone deficiency

Head And Neck Mouth:
narrow palate
high-arched palate

Head And Neck Face:
micrognathia

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Head And Neck Eyes:
blepharophimosis
hypotelorism
pseudopapilledema
downslanting palpebral fissures
epicanthal folds
more
Skeletal:
delayed bone age

Skeletal Feet:
small feet
widely spaced 1st-2nd toes
zygodactyly
short 3rd-4th toes
protruding calcaneus

Growth Weight:
birthweight <10th percentile

Abdomen Gastrointestinal:
multiple episodes of choking (1st year of life)

Clinical features from OMIM®:

264475 (Updated 05-Mar-2021)

Drugs & Therapeutics for Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and...

Search Clinical Trials , NIH Clinical Center for Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies

Genetic Tests for Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and...

Anatomical Context for Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and...

MalaCards organs/tissues related to Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies:

40
Eye, Bone

Publications for Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and...

Articles related to Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies:

# Title Authors PMID Year
1
Acro-oto-ocular syndrome: further evidence for a new autosomal recessive disorder. 57
9415472 1997
2
Autosomal recessive malformation syndrome with minor manifestation in the heterozygotes: a preliminary report of a possible new syndrome. 57
1785624 1991

Variations for Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and...

Expression for Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and...

Search GEO for disease gene expression data for Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies.

Pathways for Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and...

GO Terms for Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and...

Sources for Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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