Pelviscapular dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: PELVISCAPULAR DYSPLASIA
CRANIOFACIAL DYSMORPHISM, HYPOPLASIA OF SCAPULA AND PELVIS, AND SHORT STATURE
Cousin syndrome
Familial pelvis-scapular dysplasia
Number of Symptoms 45
OrphanetNr: 93333
OMIM Id: 260660
ICD-10: Q87.5
UMLs: C1850040
MeSH: C535550
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000033) Ambiguous genitalia, male 9 / 7739
2
 (HPO:0000061) Ambiguous genitalia, female 8 / 7739
3
 (HPO:0000126) Hydronephrosis 119 / 7739
4
 (HPO:0000062) Ambiguous genitalia 74 / 7739
5
 (HPO:0000175) Cleft palate 349 / 7739
6
 (HPO:0000581) Blepharophimosis 197 / 7739
7
 (HPO:0000568) Microphthalmia 183 / 7739
8
 (HPO:0001999) Abnormal facial shape 169 / 7739
9
 (HPO:0000347) Micrognathia 426 / 7739
10
 (HPO:0000171) Microglossia 27 / 7739
11
 (HPO:0009085) Alveolar ridge overgrowth 4 / 7739
12
 (HPO:0000482) Microcornea 102 / 7739
13
 (HPO:0011266) Microtia, first degree 4 / 7739
14
 (HPO:0000890) Long clavicles 13 / 7739
15
 (HPO:0008472) Prominent protruding coccyx 1 / 7739
16
 (HPO:0003083) Dislocated radial head 35 / 7739
17
 (HPO:0003173) Hypoplastic pubic bone 8 / 7739
18
 (HPO:0012385) Camptodactyly 113 / 7739
19
 (HPO:0002866) Hypoplastic iliac wing 34 / 7739
20
 (HPO:0001591) Bell-shaped thorax 35 / 7739
21
 (HPO:0010621) Cutaneous syndactyly of toes 36 / 7739
22
 (HPO:0001159) Syndactyly 140 / 7739
23
 (HPO:0002990) Fibular aplasia 16 / 7739
24
 (HPO:0008905) Rhizomelia 85 / 7739
25
 (HPO:0008488) Anterior rounding of vertebral bodies 1 / 7739
26
 (HPO:0000882) Hypoplastic scapulae 28 / 7739
27
 (HPO:0000946) Hypoplastic ilia 21 / 7739
28
 (HPO:0003027) Mesomelia 58 / 7739
29
 (HPO:0001770) Toe syndactyly 149 / 7739
30
 (HPO:0001239) Wrist flexion contracture 13 / 7739
31
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
32
 (HPO:0004691) 2-3 toe syndactyly 50 / 7739
33
 (HPO:0009700) Finger symphalangism 55 / 7739
34
 (HPO:0006077) Absent proximal finger flexion creases 1 / 7739
35
 (HPO:0004692) 4-5 toe syndactyly 6 / 7739
36
 (HPO:0009473) Joint contracture of the hand 84 / 7739
37
 (HPO:0003175) Hypoplastic ischia 12 / 7739
38
 (HPO:0001762) Talipes equinovarus 309 / 7739
39
 (HPO:0003498) Disproportionate short stature 28 / 7739
40
 (HPO:0009937) Facial hirsutism 4 / 7739
41
 (HPO:0002324) Hydranencephaly 9 / 7739
42
 (HPO:0000238) Hydrocephalus 278 / 7739
43
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
44
 (OMIM) Small, simple ears 2 / 7739
45
 (HPO:0012745) Short palpebral fissure 47 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Among the 7 children of first-cousin Maghrebian parents, Cousin et al. (1982) described a brother and sister with a disorder consisting of congenital dwarfism, facial dysmorphism, and several skeletal anomalies, most strikingly bilateral agenesis of the ala (wings) ...
Molecular genetics OMIM Lausch et al. (2008) identified the Tbx15-deficient mouse phenotype as a possible homolog to Cousin syndrome. Similar features included small overall size, hypoplastic scapula, and abnormalities of the cranial bones and cervical vertebrae. By sequence analysis of the ...