MCID: NGH023
MIFTS: 16

Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome

Categories: Rare diseases, Bone diseases, Fetal 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 49 55
Hunter-Thompson-Reed Syndrome 49 55
Hunter Thompson Reed Syndrome 49

Classifications:



Summaries for Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome

NIH Rare Diseases : 49 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. Last updated: 3/22/2007

MalaCards based summary : Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome, is also known as hunter-thompson-reed syndrome, and has symptoms including abnormality of the palate, 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:

55 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the palate 55 31 hallmark (90%) Very frequent (99-80%) HP:0000174
2 malar flattening 55 31 hallmark (90%) Very frequent (99-80%) HP:0000272
3 retrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000278
4 epicanthus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000286
5 abnormality of the nose 55 31 frequent (33%) Frequent (79-30%) HP:0000366
6 low-set, posteriorly rotated ears 55 31 frequent (33%) Frequent (79-30%) HP:0000368
7 downslanted palpebral fissures 55 31 frequent (33%) Frequent (79-30%) HP:0000494
8 ptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000508
9 abnormal electroretinogram 55 31 hallmark (90%) Very frequent (99-80%) HP:0000512
10 myopia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000545
11 nyctalopia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000662
12 synophrys 55 31 hallmark (90%) Very frequent (99-80%) HP:0000664
13 carious teeth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000670
14 heterochromia iridis 55 31 frequent (33%) Frequent (79-30%) HP:0001100
15 brachydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001156
16 hypertonia 55 31 frequent (33%) Frequent (79-30%) HP:0001276
17 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
18 clinodactyly of the 5th finger 55 31 frequent (33%) Frequent (79-30%) HP:0004209
19 joint hyperflexibility 55 31 hallmark (90%) Very frequent (99-80%) HP:0005692
20 abnormality of retinal pigmentation 55 31 frequent (33%) Frequent (79-30%) HP:0007703
21 abnormality of the retinal vasculature 55 31 hallmark (90%) Very frequent (99-80%) HP:0008046
22 cognitive impairment 55 31 frequent (33%) Frequent (79-30%) HP:0100543
23 down-sloping shoulders 55 31 hallmark (90%) Very frequent (99-80%) HP:0200021

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

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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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42 MESH via Orphanet
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58 PubMed
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
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70 UMLS via Orphanet
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