COUSS
MCID: CSN001
MIFTS: 27

Cousin Syndrome (COUSS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cousin Syndrome

MalaCards integrated aliases for Cousin Syndrome:

Name: Cousin Syndrome 57 53 59 74 37 29 13 6 40
Pelviscapular Dysplasia 57 53 59 72
Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature 57 74
Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis and Short Stature 53
Familial Pelvis-Scapular Dysplasia 59
Couss 74

Characteristics:

Orphanet epidemiological data:

59
pelviscapular dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cousin syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 260660
KEGG 37 H00873
MESH via Orphanet 45 C535550
ICD10 via Orphanet 34 Q87.5
UMLS via Orphanet 73 C1850040
Orphanet 59 ORPHA93333
MedGen 42 C1850040
UMLS 72 C1850040

Summaries for Cousin Syndrome

UniProtKB/Swiss-Prot : 74 Cousin syndrome: Defined as pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphy (frontal bossing, hypertelorism, narrow palpebral fissures, deep set globes, strabismus, low-set posteriory rotated and unusually formed external ears, dysplasia of conchae, small chin, short neck with redundant skin folds, and a low hairline). Intelligence may vary from normal to moderately impaired. Radiographic features comprise aplasia of the body of the scapula, hypoplasia of the iliac bone, humeroradial synosthosis, dislocation of the femoral heads, and moderate brachydactyly.

MalaCards based summary : Cousin Syndrome, also known as pelviscapular dysplasia, is related to maroteaux stanescu cousin syndrome and chondrodysplasia lethal recessive. An important gene associated with Cousin Syndrome is TBX15 (T-Box Transcription Factor 15). Affiliated tissues include bone, skin and eye, and related phenotypes are macrocephaly and short neck

NIH Rare Diseases : 53 Cousin syndrome is a rare syndrome characterized mainly by short stature at birth, unusual facial appearance and skeletal abnormalities involving the shoulder blades and hips. Intelligence may vary from normal to moderately delayed. Mutations in the TBX15 gene inherited in an autosomal recessive pattern have been suggested as the cause of this condition.

KEGG : 37
Cousin syndrome arises from errors of morphogenesis. It is characterized by scapular and pelvic hypoplasia along with epiphyseal abnormalities, congenital dwarfism, and facial dysmorphy including cranial, cervical, and auricular malformations. Cousin syndrome is linked to TBX15 insufficiency.

More information from OMIM: 260660

Related Diseases for Cousin Syndrome

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

# Related Disease Score Top Affiliating Genes
1 maroteaux stanescu cousin syndrome 12.2
2 chondrodysplasia lethal recessive 11.2

Symptoms & Phenotypes for Cousin Syndrome

Human phenotypes related to Cousin Syndrome:

59 32 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 obligate (100%) Obligate (100%) HP:0000256
2 short neck 59 32 obligate (100%) Obligate (100%) HP:0000470
3 elbow flexion contracture 59 32 obligate (100%) Obligate (100%) HP:0002987
4 congenital hip dislocation 59 32 obligate (100%) Obligate (100%) HP:0001374
5 brachydactyly 59 32 obligate (100%) Obligate (100%) HP:0001156
6 hypoplastic scapulae 59 32 obligate (100%) Obligate (100%) HP:0000882
7 hypoplastic ilia 59 32 obligate (100%) Obligate (100%) HP:0000946
8 short femur 59 32 obligate (100%) Obligate (100%) HP:0003097
9 humeroradial synostosis 59 32 obligate (100%) Obligate (100%) HP:0003041
10 mesomelic leg shortening 59 32 obligate (100%) Obligate (100%) HP:0004987
11 abnormality of the joint spaces of the elbow 59 32 obligate (100%) Obligate (100%) HP:0003943
12 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
13 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
14 abnormality of the skull base 59 32 hallmark (90%) Very frequent (99-80%) HP:0002693
15 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
16 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
17 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
18 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
19 low posterior hairline 59 32 frequent (33%) Frequent (79-30%) HP:0002162
20 abnormality of the pinna 59 32 frequent (33%) Frequent (79-30%) HP:0000377
21 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
22 blepharophimosis 59 32 frequent (33%) Frequent (79-30%) HP:0000581
23 stenosis of the external auditory canal 59 32 frequent (33%) Frequent (79-30%) HP:0000402
24 redundant neck skin 59 32 frequent (33%) Frequent (79-30%) HP:0005989
25 hydrocephalus 32 HP:0000238
26 abnormal facial shape 32 HP:0001999
27 cleft palate 32 HP:0000175
28 micrognathia 32 HP:0000347
29 talipes equinovarus 32 HP:0001762
30 microphthalmia 32 HP:0000568
31 hypoplastic iliac wing 32 HP:0002866
32 rhizomelia 32 HP:0008905
33 clinodactyly of the 5th finger 32 HP:0004209
34 hydronephrosis 32 HP:0000126
35 facial hirsutism 32 HP:0009937
36 toe syndactyly 32 HP:0001770
37 microcornea 32 HP:0000482
38 wrist flexion contracture 32 HP:0001239
39 ambiguous genitalia, male 32 HP:0000033
40 camptodactyly 32 HP:0012385
41 hypoplastic pubic bone 32 HP:0003173
42 hypoplastic ischia 32 HP:0003175
43 short palpebral fissure 32 HP:0012745
44 fibular aplasia 32 HP:0002990
45 bell-shaped thorax 32 HP:0001591
46 2-3 toe syndactyly 32 HP:0004691
47 mesomelia 32 HP:0003027
48 hydranencephaly 32 HP:0002324
49 dislocated radial head 32 HP:0003083
50 microglossia 32 HP:0000171

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
cleft palate
hypoglossia
thickened alveolar ridges

Head And Neck Eyes:
microphthalmia
microcornea
short palpebral fissures

Genitourinary External Genitalia Male:
ambiguous genitalia

Chest Ribs Sternum Clavicles And Scapulae:
hypoplastic scapulae
elongated clavicles

Skeletal Pelvis:
hypoplastic pubic bone
hypoplastic ischia
hypoplastic ilia
hypoplastic iliac wings

Skeletal Spine:
prominent protruding coccyx
anterior rounding of vertebral bodies

Growth Height:
short stature, disproportionate

Chest External Features:
bell-shaped chest

Head And Neck Face:
micrognathia
facial hirsutism

Genitourinary Kidneys:
hydronephrosis

Genitourinary External Genitalia Female:
ambiguous genitalia

Skeletal Hands:
camptodactyly
absent proximal finger flexion creases
bilateral fifth finger clinodactyly
wrist flexion deformity

Neurologic Central Nervous System:
hydranencephaly
hydrocephaly

Skeletal Limbs:
radial head dislocation
rhizomelic limb shortening
mesomelic limb shortening
absent fibulae

Skeletal Feet:
club feet
syndactyly (2-3, 4-5)

Head And Neck Ears:
small, simple ears

Clinical features from OMIM:

260660

Drugs & Therapeutics for Cousin Syndrome

Search Clinical Trials , NIH Clinical Center for Cousin Syndrome

Genetic Tests for Cousin Syndrome

Genetic tests related to Cousin Syndrome:

# Genetic test Affiliating Genes
1 Cousin Syndrome 29 TBX15

Anatomical Context for Cousin Syndrome

MalaCards organs/tissues related to Cousin Syndrome:

41
Bone, Skin, Eye

Publications for Cousin Syndrome

Articles related to Cousin Syndrome:

# Title Authors PMID Year
1
TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome. 38 8 71
19068278 2008
2
Scapuloiliac dysostosis (Kosenow syndrome, pelvis-shoulder dysplasia) spectrum: three additional cases. 8
11146473 2000
3
[Familial pelvi-scapulary dysplasia with anomalies of the epiphyses, dwarfism and dysmorphy: a new syndrome? (author's transl)]. 8
7103674 1982
4
Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome. 38
24039145 2013
5
Chinese peoples' perceptions of colorectal cancer screening: a New Zealand perspective. 38
21725410 2011

Variations for Cousin Syndrome

ClinVar genetic disease variations for Cousin Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TBX15 TBX15, 1-BP DEL, 1042A deletion Pathogenic
2 TBX15 TBX15, 1-BP DEL, 1044A deletion Pathogenic

Expression for Cousin Syndrome

Search GEO for disease gene expression data for Cousin Syndrome.

Pathways for Cousin Syndrome

GO Terms for Cousin Syndrome

Sources for Cousin 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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