MCID: PSD103
MIFTS: 17

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 59 72
Pseudopapilledema-Blepharophimosis-Hand Anomalies Syndrome 59
Aoo Syndrome 57

Characteristics:

Orphanet epidemiological data:

59
acrootoocular syndrome
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 264475
ICD10 via Orphanet 34 Q87.0
UMLS via Orphanet 73 C1849661
Orphanet 59 ORPHA2980
MedGen 42 C1849661
UMLS 72 C1849661

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 bone and eye, and related phenotypes are low-set ears and pectus excavatum

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:

59 32 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
2 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
3 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
4 hyperpigmented nevi 59 32 frequent (33%) Frequent (79-30%) HP:0007481
5 dental malocclusion 59 32 frequent (33%) Frequent (79-30%) HP:0000689
6 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
7 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
8 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
9 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
10 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
11 high, narrow palate 59 32 frequent (33%) Frequent (79-30%) HP:0002705
12 delayed eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000684
13 short foot 59 32 frequent (33%) Frequent (79-30%) HP:0001773
14 short toe 59 32 frequent (33%) Frequent (79-30%) HP:0001831
15 kyphoscoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002751
16 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
17 increased number of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0011069
18 conductive hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000405
19 sandal gap 59 32 frequent (33%) Frequent (79-30%) HP:0001852
20 blepharophimosis 59 32 frequent (33%) Frequent (79-30%) HP:0000581
21 hypotelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000601
22 short finger 59 32 frequent (33%) Frequent (79-30%) HP:0009381
23 atresia of the external auditory canal 59 32 frequent (33%) Frequent (79-30%) HP:0000413
24 short metacarpal 59 32 frequent (33%) Frequent (79-30%) HP:0010049
25 abnormality of earlobe 59 32 frequent (33%) Frequent (79-30%) HP:0000363
26 small for gestational age 59 32 frequent (33%) Frequent (79-30%) HP:0001518
27 grayish enamel 59 32 frequent (33%) Frequent (79-30%) HP:0000683
28 wide nasal base 59 32 frequent (33%) Frequent (79-30%) HP:0012810
29 growth hormone deficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000824
30 pseudopapilledema 59 32 frequent (33%) Frequent (79-30%) HP:0000538
31 choking episodes 59 32 frequent (33%) Frequent (79-30%) HP:0030842
32 cutaneous syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0012725
33 small hypothenar eminence 59 32 frequent (33%) Frequent (79-30%) HP:0010487
34 decreased palmar creases 59 32 frequent (33%) Frequent (79-30%) HP:0006184
35 anodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000674
36 abnormality of facial musculature 59 32 frequent (33%) Frequent (79-30%) HP:0000301
37 small thenar eminence 59 32 frequent (33%) Frequent (79-30%) HP:0001245
38 abnormal finger flexion creases 59 32 frequent (33%) Frequent (79-30%) HP:0006143
39 palmar hyperkeratosis 59 32 frequent (33%) Frequent (79-30%) HP:0010765
40 prominent calcaneus 59 32 frequent (33%) Frequent (79-30%) HP:0012428
41 epicanthus 32 frequent (33%) HP:0000286
42 finger syndactyly 32 HP:0006101
43 high palate 32 HP:0000218
44 intellectual disability 59 Excluded (0%)
45 narrow palate 32 HP:0000189
46 hearing impairment 32 HP:0000365
47 short phalanx of finger 32 HP:0009803
48 prominent epicanthal folds 59 Frequent (79-30%)
49 numerous nevi 32 HP:0001054
50 abnormality of abdomen morphology 32 HP:0001438

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
external auditory meatus atresia
mixed deafness

Growth Other:
failure to thrive

Growth Height:
short stature

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

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Head And Neck Mouth:
narrow palate
high-arched palate

Head And Neck Face:
micrognathia

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:

41
Bone, Eye

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. 8
9415472 1997
2
Autosomal recessive malformation syndrome with minor manifestation in the heterozygotes: a preliminary report of a possible new syndrome. 8
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...

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58 OMIM via Orphanet
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72 UMLS
73 UMLS via Orphanet
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