MCID: PSD103
MIFTS: 20

Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies

Categories: Eye diseases, Fetal diseases, Rare diseases
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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:


Inheritance:

Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies: Autosomal recessive 57
Acrootoocular Syndrome: Autosomal recessive 58

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


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

Orphanet: 58 A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.

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 30 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 30 Frequent (33%) Frequent (79-30%)
HP:0001508
2 hyperpigmented nevi 58 30 Frequent (33%) Frequent (79-30%)
HP:0007481
3 delayed skeletal maturation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002750
4 dental malocclusion 58 30 Frequent (33%) Frequent (79-30%)
HP:0000689
5 microcephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000252
6 sensorineural hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000407
7 short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0004322
8 micrognathia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000347
9 low-set ears 58 30 Frequent (33%) Frequent (79-30%)
HP:0000369
10 high, narrow palate 58 30 Frequent (33%) Frequent (79-30%)
HP:0002705
11 pectus excavatum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000767
12 short toe 58 30 Frequent (33%) Frequent (79-30%)
HP:0001831
13 kyphoscoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002751
14 downslanted palpebral fissures 58 30 Frequent (33%) Frequent (79-30%)
HP:0000494
15 conductive hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000405
16 sandal gap 58 30 Frequent (33%) Frequent (79-30%)
HP:0001852
17 delayed eruption of teeth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000684
18 blepharophimosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000581
19 hypotelorism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000601
20 short finger 58 30 Frequent (33%) Frequent (79-30%)
HP:0009381
21 short metacarpal 58 30 Frequent (33%) Frequent (79-30%)
HP:0010049
22 atresia of the external auditory canal 58 30 Frequent (33%) Frequent (79-30%)
HP:0000413
23 short foot 58 30 Frequent (33%) Frequent (79-30%)
HP:0001773
24 small for gestational age 58 30 Frequent (33%) Frequent (79-30%)
HP:0001518
25 grayish enamel 58 30 Frequent (33%) Frequent (79-30%)
HP:0000683
26 choking episodes 58 30 Frequent (33%) Frequent (79-30%)
HP:0030842
27 pseudopapilledema 58 30 Frequent (33%) Frequent (79-30%)
HP:0000538
28 anodontia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000674
29 palmar hyperkeratosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0010765
30 small hypothenar eminence 58 30 Frequent (33%) Frequent (79-30%)
HP:0010487
31 cutaneous syndactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0012725
32 decreased palmar creases 58 30 Frequent (33%) Frequent (79-30%)
HP:0006184
33 abnormal finger flexion creases 58 30 Frequent (33%) Frequent (79-30%)
HP:0006143
34 small thenar eminence 58 30 Frequent (33%) Frequent (79-30%)
HP:0001245
35 abnormality of facial musculature 58 30 Frequent (33%) Frequent (79-30%)
HP:0000301
36 prominent calcaneus 58 30 Frequent (33%) Frequent (79-30%)
HP:0012428
37 wide nasal base 58 30 Frequent (33%) Frequent (79-30%)
HP:0012810
38 epicanthus 30 Frequent (33%) HP:0000286
39 supernumerary tooth 30 Frequent (33%) HP:0011069
40 decreased response to growth hormone stimulation test 30 Frequent (33%) HP:0000824
41 abnormal earlobe morphology 30 Frequent (33%) HP:0000363
42 intellectual disability 58 Excluded (0%)
43 high palate 30 HP:0000218
44 hearing impairment 30 HP:0000365
45 narrow palate 30 HP:0000189
46 finger syndactyly 30 HP:0006101
47 increased number of teeth 58 Frequent (79-30%)
48 abnormality of earlobe 58 Frequent (79-30%)
49 short phalanx of finger 30 HP:0009803
50 growth hormone deficiency 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 24-Oct-2022)

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...

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

MalaCards : 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...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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