MCID: STR088
MIFTS: 23

Stratton-Parker Syndrome

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Stratton-Parker Syndrome

MalaCards integrated aliases for Stratton-Parker Syndrome:

Name: Stratton-Parker Syndrome 56 74 58 71
Growth Hormone Deficiency with Wormian Bones, Cardiac Anomaly, and Brachycamptodactyly 56
Short Stature-Wormian Bones-Dextrocardia Syndrome 58
Short Stature Wormian Bones Dextrocardia 52
Stratton Parker Syndrome 52

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 185120
ICD10 via Orphanet 33 Q87.1
UMLS via Orphanet 72 C1861448
Orphanet 58 ORPHA2863
MedGen 41 C1861448
UMLS 71 C1861448

Summaries for Stratton-Parker 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: 2863 Definition A multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymmetry, mild developmental delay , hemimegalencephaly and facial dysmorphism (hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia). Visit the Orphanet disease page for more resources.

MalaCards based summary : Stratton-Parker Syndrome, also known as growth hormone deficiency with wormian bones, cardiac anomaly, and brachycamptodactyly, is related to growth hormone deficiency and anus, imperforate. Affiliated tissues include bone, kidney and heart, and related phenotypes are wide nasal bridge and short stature

Wikipedia : 74 Stratton parker syndrome is a rare disorder characterized by short stature, wormian bones (extra cranial... more...

More information from OMIM: 185120

Related Diseases for Stratton-Parker Syndrome

Diseases related to Stratton-Parker Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 growth hormone deficiency 10.6
2 anus, imperforate 10.4
3 cryptorchidism, unilateral or bilateral 10.4
4 dextrocardia 10.4

Symptoms & Phenotypes for Stratton-Parker Syndrome

Human phenotypes related to Stratton-Parker Syndrome:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
4 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
5 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
6 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
7 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
8 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
9 abnormal dermatoglyphics 58 31 hallmark (90%) Very frequent (99-80%) HP:0007477
10 renal hypoplasia/aplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008678
11 anterior hypopituitarism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000830
12 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
13 delayed eruption of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000684
14 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
15 anal atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002023
16 patent ductus arteriosus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001643
17 reduced number of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009804
18 abnormality of the philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000288
19 wormian bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0002645
20 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
21 dextrocardia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001651
22 long eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000527
23 depressed nasal tip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000437
24 broad alveolar ridges 58 31 hallmark (90%) Very frequent (99-80%) HP:0000187
25 midshaft hypospadias 58 31 hallmark (90%) Very frequent (99-80%) HP:0012854

Clinical features from OMIM:

185120

Drugs & Therapeutics for Stratton-Parker Syndrome

Search Clinical Trials , NIH Clinical Center for Stratton-Parker Syndrome

Genetic Tests for Stratton-Parker Syndrome

Anatomical Context for Stratton-Parker Syndrome

MalaCards organs/tissues related to Stratton-Parker Syndrome:

40
Bone, Kidney, Heart, Testes

Publications for Stratton-Parker Syndrome

Articles related to Stratton-Parker Syndrome:

# Title Authors PMID Year
1
Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: a phenotype overlapping Stratton-Parker syndrome. 56 61
15211658 2004
2
Stratton-Parker syndrome: confirmation of a new entity. 56 61
8209896 1994
3
Growth hormone deficiency, wormian bones, dextrocardia, brachycamptodactyly, and other midline defects. 56
2564736 1989
4
Two cases of birth defects overlapping Stratton-Parker syndrome after multiple pesticide exposure. 61
19951932 2010
5
[Stratton-Parker syndrome]. 61
11528971 2001

Variations for Stratton-Parker Syndrome

Expression for Stratton-Parker Syndrome

Search GEO for disease gene expression data for Stratton-Parker Syndrome.

Pathways for Stratton-Parker Syndrome

GO Terms for Stratton-Parker Syndrome

Sources for Stratton-Parker 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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