MCID: NGH023
MIFTS: 15

Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome

Categories: Rare diseases, Fetal diseases, Bone diseases

Aliases & Classifications for Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome

MalaCards integrated aliases for Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome:

Name: Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome 53 59
Hunter-Thompson-Reed Syndrome 53 59
Hunter Thompson Reed Syndrome 53

Classifications:



Summaries for Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1390Disease definitionThis syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia).EpidemiologyIt has been described in two brothers.Clinical descriptionThey also presented myopia and extinguished electroretinograms.Genetic counselingSeveral different modes of inheritance have been reported.Visit the Orphanet disease page for more resources.

MalaCards based summary : Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome, is also known as hunter-thompson-reed syndrome. Related phenotypes are malar flattening and retrognathia

Related Diseases for Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome

Symptoms & Phenotypes for Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome

Human phenotypes related to Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 retrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000278
3 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
4 abnormality of the nose 59 32 frequent (33%) Frequent (79-30%) HP:0000366
5 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
6 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
7 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
8 abnormal electroretinogram 59 32 hallmark (90%) Very frequent (99-80%) HP:0000512
9 myopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000545
10 nyctalopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000662
11 synophrys 59 32 hallmark (90%) Very frequent (99-80%) HP:0000664
12 carious teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000670
13 heterochromia iridis 59 32 frequent (33%) Frequent (79-30%) HP:0001100
14 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
15 hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0001276
16 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
17 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
18 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
19 abnormality of retinal pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007703
20 abnormality of the retinal vasculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008046
21 cognitive impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100543
22 down-sloping shoulders 59 32 hallmark (90%) Very frequent (99-80%) HP:0200021
23 abnormality of the palate 59 Very frequent (99-80%)
24 abnormal palate morphology 32 hallmark (90%) HP:0000174

Drugs & Therapeutics for Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome

Search Clinical Trials , NIH Clinical Center for Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome

Genetic Tests for Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome

Anatomical Context for Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome

Publications for Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome

Variations for Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome

Expression for Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome

Search GEO for disease gene expression data for Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome.

Pathways for Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome

GO Terms for Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome

Sources for Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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