MCID: KNS003
MIFTS: 14

Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis

Categories: Rare diseases

Aliases & Classifications for Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis

MalaCards integrated aliases for Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis:

Name: Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 56 52 71
Burton Syndrome 56 52

Characteristics:

OMIM:

56
Inheritance:
isolated cases

Miscellaneous:
initial cases reclassified as having schwartz-jampel syndrome (sjs1, )


HPO:

31
kniest-like dysplasia with pursed lips and ectopia lentis:
Inheritance sporadic


Classifications:



Summaries for Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis

MalaCards based summary : Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis, also known as burton syndrome, is related to schwartz-jampel syndrome, type 1. Related phenotypes are ectopia lentis and short neck

More information from OMIM: 245160

Related Diseases for Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis

Diseases related to Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 schwartz-jampel syndrome, type 1 12.0

Symptoms & Phenotypes for Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis

Human phenotypes related to Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 ectopia lentis 31 occasional (7.5%) HP:0001083
2 short neck 31 HP:0000470
3 ptosis 31 HP:0000508
4 high palate 31 HP:0000218
5 pectus carinatum 31 HP:0000768
6 joint stiffness 31 HP:0001387
7 short stature 31 HP:0004322
8 flexion contracture 31 HP:0001371
9 platyspondyly 31 HP:0000926
10 narrow mouth 31 HP:0000160
11 deep philtrum 31 HP:0002002
12 pursed lips 31 HP:0000205
13 femoral bowing 31 HP:0002980
14 tibial bowing 31 HP:0002982
15 cervical kyphosis 31 HP:0002947
16 absent ossification of capital femoral epiphysis 31 HP:0008820

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
lateral curving of inferior scapular angle
normal ribs

Skeletal Spine:
platyspondyly
cervical kyphosis
no coronal clefts

Head And Neck Mouth:
pursed lips
high-arched palate
microstomia

Skeletal:
joint stiffness (neck, shoulder, elbow, hips)
joint contractures (elbows and knees)

Head And Neck Eyes:
ptosis
ectopia lentis (in some patients)

Growth Height:
short stature

Head And Neck Face:
deep philtrum

Skeletal Limbs:
femoral bowing
tibial bowing
large ossification centers

Skeletal Pelvis:
absent ossification of femoral capital epiphyses

Clinical features from OMIM:

245160

Drugs & Therapeutics for Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis

Search Clinical Trials , NIH Clinical Center for Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis

Genetic Tests for Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis

Anatomical Context for Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis

Publications for Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis

Articles related to Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis:

# Title Authors PMID Year
1
Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease. 56
11038441 2000
2
Burton skeletal dysplasia: the second case report. 56
9788555 1998
3
A new skeletal dysplasia: clinical, radiologic, and pathologic findings. 56
3761078 1986

Variations for Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis

Expression for Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis

Search GEO for disease gene expression data for Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis.

Pathways for Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis

GO Terms for Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis

Sources for Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis

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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