MCID: SVR009
MIFTS: 19

Seaver Cassidy Syndrome

Categories: Ear diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Seaver Cassidy Syndrome

MalaCards integrated aliases for Seaver Cassidy Syndrome:

Name: Seaver Cassidy Syndrome 52 71
Hypertelorism, Downslanting Palpebral Fissures, Malar Hypoplasia, and Apparently Low-Set Ears Associated with Joint and Scrotal Anomalies 52
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome 58
Facial Dysmorphism Shawl Scrotum Joint Laxity 52
Seaver-Cassidy Syndrome 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Seaver Cassidy Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1778 Definition Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis , malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit. Visit the Orphanet disease page for more resources.

MalaCards based summary : Seaver Cassidy Syndrome, also known as hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies, is related to hypertelorism and telecanthus. Affiliated tissues include bone, and related phenotypes are hypertelorism and wide nasal bridge

Wikipedia : 74 Seaver Cassidy syndrome is a very rare disorder characterized by certain facial, genital, and skeletal... more...

Related Diseases for Seaver Cassidy Syndrome

Diseases related to Seaver Cassidy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypertelorism 10.8
2 telecanthus 10.8
3 cryptorchidism, unilateral or bilateral 10.8
4 ptosis 10.8

Symptoms & Phenotypes for Seaver Cassidy Syndrome

Human phenotypes related to Seaver Cassidy Syndrome:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
3 smooth philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000319
4 genu valgum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002857
5 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
6 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
7 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
8 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
9 nevus 58 31 hallmark (90%) Very frequent (99-80%) HP:0003764
10 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
11 hypoplasia of the zygomatic bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0010669
12 protruding ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000411
13 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
14 shawl scrotum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000049
15 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
16 umbilical hernia 58 31 frequent (33%) Frequent (79-30%) HP:0001537
17 neurological speech impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002167
18 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
19 cubitus valgus 58 31 frequent (33%) Frequent (79-30%) HP:0002967
20 low posterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0002162
21 abnormality of the voice 58 31 frequent (33%) Frequent (79-30%) HP:0001608
22 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
23 large fontanelles 58 31 frequent (33%) Frequent (79-30%) HP:0000239
24 abnormality of coagulation 58 31 frequent (33%) Frequent (79-30%) HP:0001928

Drugs & Therapeutics for Seaver Cassidy Syndrome

Search Clinical Trials , NIH Clinical Center for Seaver Cassidy Syndrome

Genetic Tests for Seaver Cassidy Syndrome

Anatomical Context for Seaver Cassidy Syndrome

MalaCards organs/tissues related to Seaver Cassidy Syndrome:

40
Bone

Publications for Seaver Cassidy Syndrome

Articles related to Seaver Cassidy Syndrome:

# Title Authors PMID Year
1
New syndrome: mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies. 61
1776627 1991

Variations for Seaver Cassidy Syndrome

Expression for Seaver Cassidy Syndrome

Search GEO for disease gene expression data for Seaver Cassidy Syndrome.

Pathways for Seaver Cassidy Syndrome

GO Terms for Seaver Cassidy Syndrome

Sources for Seaver Cassidy Syndrome

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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