MCID: SVR009
MIFTS: 17

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 53 72
Hypertelorism, Downslanting Palpebral Fissures, Malar Hypoplasia, and Apparently Low-Set Ears Associated with Joint and Scrotal Anomalies 53
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome 59
Facial Dysmorphism Shawl Scrotum Joint Laxity 53
Seaver-Cassidy Syndrome 59

Classifications:



External Ids:

ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C2931522
Orphanet 59 ORPHA1778
UMLS 72 C2931522

Summaries for Seaver Cassidy 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: 1778DefinitionFacial 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 low-set ears

Wikipedia : 75 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:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
3 genu valgum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002857
4 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
5 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
6 smooth philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000319
7 protruding ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0000411
8 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
9 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
10 nevus 59 32 hallmark (90%) Very frequent (99-80%) HP:0003764
11 telecanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000506
12 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
13 shawl scrotum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000049
14 hypoplasia of the zygomatic bone 32 hallmark (90%) HP:0010669
15 neurological speech impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002167
16 mandibular prognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000303
17 umbilical hernia 59 32 frequent (33%) Frequent (79-30%) HP:0001537
18 intellectual disability, mild 59 32 frequent (33%) Frequent (79-30%) HP:0001256
19 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
20 cubitus valgus 59 32 frequent (33%) Frequent (79-30%) HP:0002967
21 low posterior hairline 59 32 frequent (33%) Frequent (79-30%) HP:0002162
22 abnormality of the voice 59 32 frequent (33%) Frequent (79-30%) HP:0001608
23 large fontanelles 59 32 frequent (33%) Frequent (79-30%) HP:0000239
24 abnormality of coagulation 59 32 frequent (33%) Frequent (79-30%) HP:0001928
25 cheekbone underdevelopment 59 Very frequent (99-80%)

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:

41
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. 38
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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