COUSS
MCID: CSN001
MIFTS: 28

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 56 52 58 73 36 13 39
Pelviscapular Dysplasia 56 52 58 29 6 71
Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature 56 73
Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis and Short Stature 52
Familial Pelvis-Scapular Dysplasia 58
Couss 73

Characteristics:

Orphanet epidemiological data:

58
pelviscapular dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
cousin syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Cousin Syndrome

UniProtKB/Swiss-Prot : 73 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 short neck and macrocephaly

NIH Rare Diseases : 52 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 : 36 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 12.3
2 chondrodysplasia lethal recessive 11.3

Symptoms & Phenotypes for Cousin Syndrome

Human phenotypes related to Cousin Syndrome:

58 31 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 58 31 obligate (100%) Obligate (100%) HP:0000470
2 macrocephaly 58 31 obligate (100%) Obligate (100%) HP:0000256
3 elbow flexion contracture 58 31 obligate (100%) Obligate (100%) HP:0002987
4 congenital hip dislocation 58 31 obligate (100%) Obligate (100%) HP:0001374
5 brachydactyly 58 31 obligate (100%) Obligate (100%) HP:0001156
6 hypoplastic scapulae 58 31 obligate (100%) Obligate (100%) HP:0000882
7 hypoplastic ilia 58 31 obligate (100%) Obligate (100%) HP:0000946
8 short femur 58 31 obligate (100%) Obligate (100%) HP:0003097
9 humeroradial synostosis 58 31 obligate (100%) Obligate (100%) HP:0003041
10 abnormality of the joint spaces of the elbow 58 31 obligate (100%) Obligate (100%) HP:0003943
11 mesomelic leg shortening 58 31 obligate (100%) Obligate (100%) HP:0004987
12 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
13 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
14 abnormality of the skull base 58 31 hallmark (90%) Very frequent (99-80%) HP:0002693
15 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
16 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
17 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
18 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
19 low posterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0002162
20 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
21 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581
22 stenosis of the external auditory canal 58 31 frequent (33%) Frequent (79-30%) HP:0000402
23 abnormality of the pinna 58 31 frequent (33%) Frequent (79-30%) HP:0000377
24 redundant neck skin 58 31 frequent (33%) Frequent (79-30%) HP:0005989
25 abnormal facial shape 31 HP:0001999
26 hydrocephalus 31 HP:0000238
27 cleft palate 31 HP:0000175
28 micrognathia 31 HP:0000347
29 talipes equinovarus 31 HP:0001762
30 clinodactyly of the 5th finger 31 HP:0004209
31 microphthalmia 31 HP:0000568
32 hydronephrosis 31 HP:0000126
33 microcornea 31 HP:0000482
34 wrist flexion contracture 31 HP:0001239
35 toe syndactyly 31 HP:0001770
36 ambiguous genitalia, male 31 HP:0000033
37 rhizomelia 31 HP:0008905
38 hypoplastic pubic bone 31 HP:0003173
39 hypoplastic ischia 31 HP:0003175
40 fibular aplasia 31 HP:0002990
41 dislocated radial head 31 HP:0003083
42 short palpebral fissure 31 HP:0012745
43 hydranencephaly 31 HP:0002324
44 alveolar ridge overgrowth 31 HP:0009085
45 mesomelia 31 HP:0003027
46 camptodactyly 31 HP:0012385
47 microglossia 31 HP:0000171
48 bell-shaped thorax 31 HP:0001591
49 2-3 toe syndactyly 31 HP:0004691
50 hypoplastic iliac wing 31 HP:0002866

Symptoms via clinical synopsis from OMIM:

56
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

Neurologic Central Nervous System:
hydranencephaly
hydrocephaly

Skeletal Spine:
prominent protruding coccyx
anterior rounding of vertebral bodies

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

Chest External Features:
bell-shaped chest

Head And Neck Face:
micrognathia
facial hirsutism

Genitourinary Kidneys:
hydronephrosis

Genitourinary External Genitalia Female:
ambiguous genitalia

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

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

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

Growth Height:
short stature, disproportionate

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 Pelviscapular Dysplasia 29 TBX15

Anatomical Context for Cousin Syndrome

MalaCards organs/tissues related to Cousin Syndrome:

40
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. 61 56 6
19068278 2008
2
Scapuloiliac dysostosis (Kosenow syndrome, pelvis-shoulder dysplasia) spectrum: three additional cases. 56
11146473 2000
3
[Familial pelvi-scapulary dysplasia with anomalies of the epiphyses, dwarfism and dysmorphy: a new syndrome? (author's transl)]. 56
7103674 1982
4
Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome. 61
24039145 2013
5
Chinese peoples' perceptions of colorectal cancer screening: a New Zealand perspective. 61
21725410 2011

Variations for Cousin Syndrome

ClinVar genetic disease variations for Cousin Syndrome:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBX15 TBX15, 1-BP DEL, 1042Adeletion Pathogenic 5822
2 TBX15 TBX15, 1-BP DEL, 1044Adeletion Pathogenic 5823

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 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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