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 56
Acrootoocular Syndrome 56 58 71
Pseudopapilledema-Blepharophimosis-Hand Anomalies Syndrome 58
Aoo Syndrome 56

Characteristics:

Orphanet epidemiological data:

58
acrootoocular syndrome
Inheritance: Autosomal recessive;

OMIM:

56
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 delayed skeletal maturation and dental malocclusion

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 all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
2 dental malocclusion 58 31 frequent (33%) Frequent (79-30%) HP:0000689
3 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
4 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
5 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
6 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
7 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
8 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
9 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
10 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
11 short toe 58 31 frequent (33%) Frequent (79-30%) HP:0001831
12 kyphoscoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002751
13 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
14 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
15 increased number of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0011069
16 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
17 sandal gap 58 31 frequent (33%) Frequent (79-30%) HP:0001852
18 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581
19 hypotelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000601
20 short finger 58 31 frequent (33%) Frequent (79-30%) HP:0009381
21 short metacarpal 58 31 frequent (33%) Frequent (79-30%) HP:0010049
22 atresia of the external auditory canal 58 31 frequent (33%) Frequent (79-30%) HP:0000413
23 abnormality of earlobe 58 31 frequent (33%) Frequent (79-30%) HP:0000363
24 short foot 58 31 frequent (33%) Frequent (79-30%) HP:0001773
25 hyperpigmented nevi 58 31 frequent (33%) Frequent (79-30%) HP:0007481
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 growth hormone deficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000824
29 choking episodes 58 31 frequent (33%) Frequent (79-30%) HP:0030842
30 pseudopapilledema 58 31 frequent (33%) Frequent (79-30%) HP:0000538
31 anodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000674
32 small hypothenar eminence 58 31 frequent (33%) Frequent (79-30%) HP:0010487
33 decreased palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0006184
34 abnormal finger flexion creases 58 31 frequent (33%) Frequent (79-30%) HP:0006143
35 cutaneous syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0012725
36 small thenar eminence 58 31 frequent (33%) Frequent (79-30%) HP:0001245
37 abnormality of facial musculature 58 31 frequent (33%) Frequent (79-30%) HP:0000301
38 palmar hyperkeratosis 58 31 frequent (33%) Frequent (79-30%) HP:0010765
39 prominent calcaneus 58 31 frequent (33%) Frequent (79-30%) HP:0012428
40 wide nasal base 58 31 frequent (33%) Frequent (79-30%) HP:0012810
41 epicanthus 31 frequent (33%) HP:0000286
42 hearing impairment 31 HP:0000365
43 intellectual disability 58 Excluded (0%)
44 narrow palate 31 HP:0000189
45 high palate 31 HP:0000218
46 finger syndactyly 31 HP:0006101
47 short phalanx of finger 31 HP:0009803
48 numerous nevi 31 HP:0001054
49 prominent epicanthal folds 58 Frequent (79-30%)
50 abnormality of abdomen morphology 31 HP:0001438

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
narrow palate
high-arched palate

Growth Other:
failure to thrive

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

Growth Height:
short stature

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

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. 56
9415472 1997
2
Autosomal recessive malformation syndrome with minor manifestation in the heterozygotes: a preliminary report of a possible new syndrome. 56
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
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57 OMIM via Orphanet
61 PubMed
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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