MCID: DWR019
MIFTS: 18

Dwarfism with Stiff Joints and Ocular Abnormalities

Categories: Skin diseases

Aliases & Classifications for Dwarfism with Stiff Joints and Ocular Abnormalities

MalaCards integrated aliases for Dwarfism with Stiff Joints and Ocular Abnormalities:

Name: Dwarfism with Stiff Joints and Ocular Abnormalities 56
Moore-Federman Syndrome 56 29
Dwarfism Stiff Joint Ocular Abnormalities 71

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant
? same as acromicric dysplasia (102370)


HPO:

31
dwarfism with stiff joints and ocular abnormalities:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Dwarfism with Stiff Joints and Ocular Abnormalities

MalaCards based summary : Dwarfism with Stiff Joints and Ocular Abnormalities, also known as moore-federman syndrome, is related to glaucoma, ectopia, microspherophakia, stiff joints and short stature syndrome and acromicric dysplasia. Affiliated tissues include bone and skin, and related phenotypes are cataract and joint stiffness

More information from OMIM: 127200

Related Diseases for Dwarfism with Stiff Joints and Ocular Abnormalities

Diseases related to Dwarfism with Stiff Joints and Ocular Abnormalities via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 glaucoma, ectopia, microspherophakia, stiff joints and short stature syndrome 11.7
2 acromicric dysplasia 10.4
3 cataract 10.4

Symptoms & Phenotypes for Dwarfism with Stiff Joints and Ocular Abnormalities

Human phenotypes related to Dwarfism with Stiff Joints and Ocular Abnormalities:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 joint stiffness 31 HP:0001387
3 thickened skin 31 HP:0001072
4 glaucoma 31 HP:0000501
5 retinal detachment 31 HP:0000541
6 disproportionate short-limb short stature 31 HP:0008873
7 short lower limbs 31 HP:0006385
8 severe short stature 31 HP:0003510
9 short phalanx of finger 31 HP:0009803
10 hypermetropia 31 HP:0000540
11 lower limb undergrowth 31 HP:0009816
12 delayed ossification of carpal bones 31 HP:0001216

Symptoms via clinical synopsis from OMIM:

56
Eyes:
cataract
glaucoma
retinal detachment
hyperopia

Limbs:
short fingers
short legs

Skin:
thickened forearm skin

Growth:
short-limbed dwarfism
disproportionate dwarfism

Joints:
stiff joints

Radiology:
delayed carpal bone age

Clinical features from OMIM:

127200

Drugs & Therapeutics for Dwarfism with Stiff Joints and Ocular Abnormalities

Search Clinical Trials , NIH Clinical Center for Dwarfism with Stiff Joints and Ocular Abnormalities

Genetic Tests for Dwarfism with Stiff Joints and Ocular Abnormalities

Genetic tests related to Dwarfism with Stiff Joints and Ocular Abnormalities:

# Genetic test Affiliating Genes
1 Moore-Federman Syndrome 29

Anatomical Context for Dwarfism with Stiff Joints and Ocular Abnormalities

MalaCards organs/tissues related to Dwarfism with Stiff Joints and Ocular Abnormalities:

40
Bone, Skin

Publications for Dwarfism with Stiff Joints and Ocular Abnormalities

Articles related to Dwarfism with Stiff Joints and Ocular Abnormalities:

# Title Authors PMID Year
1
Moore-Federman syndrome and acromicric dysplasia: are they the same entity? 56 61
2732993 1989
2
FAMILIAL DWARFISM AND "STIFF JOINTS". 56
14272366 1965
3
Moore Federman syndrome: A rare cause of pseudoscleroderma. 61
17675736 2007
4
Acromicric dysplasia and geleophysic dysplasia: similarities and differences. 61
8777926 1996
5
Reviving the Moore-Federman syndrome. 61
8423583 1993
6
Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: a dominant disease with manifestations of Weill-Marchesani syndromes. 61
1519650 1992

Variations for Dwarfism with Stiff Joints and Ocular Abnormalities

Expression for Dwarfism with Stiff Joints and Ocular Abnormalities

Search GEO for disease gene expression data for Dwarfism with Stiff Joints and Ocular Abnormalities.

Pathways for Dwarfism with Stiff Joints and Ocular Abnormalities

GO Terms for Dwarfism with Stiff Joints and Ocular Abnormalities

Sources for Dwarfism with Stiff Joints and Ocular Abnormalities

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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