Coxo-podo-patellar syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: COXOPODOPATELLAR SYNDROME
SPS
scott-taor syndrome
Small patella syndrome
ischiopatellar dysplasia
Number of Symptoms 23
OrphanetNr: 1509
OMIM Id: 147891
ICD-10: Q74.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 47 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Patellar dysostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000175) Cleft palate 349 / 7739
2
 (HPO:0000347) Micrognathia 426 / 7739
3
 (HPO:0000218) High palate 356 / 7739
4
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
5
 (HPO:0008784) Wide capital femoral epiphyses 1 / 7739
6
 (HPO:0008801) Hypoplasia of the lesser trochanter 1 / 7739
7
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
8
 (HPO:0003065) Patellar hypoplasia 8 / 7739
9
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
10
 (HPO:0006443) Patellar aplasia 14 / 7739
11
 (HPO:0001852) Sandal gap 63 / 7739
12
 (HPO:0002815) Abnormality of the knee Very frequent [Orphanet] 19 / 7739
13
 (HPO:0003370) Flat capital femoral epiphysis 15 / 7739
14
 (HPO:0002999) Patellar dislocation 46 / 7739
15
 (HPO:0001763) Pes planus 176 / 7739
16
 (HPO:0003045) Abnormality of the patella Very frequent [Orphanet] 33 / 7739
17
 (OMIM) Short fourth and fifth rays 1 / 7739
18
 (OMIM) Infra-acetabula axe-cut notches 1 / 7739
19
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
20
 (OMIM) Normal nails 15 / 7739
21
 (OMIM) Flat, wide proximal femoral epiphyses 1 / 7739
22
 (OMIM) Absent/delayed/irregular ischiopubic junction ossification 1 / 7739
23
 (OMIM) Elongated femoral necks 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Scott and Taor (1979) described a family in which 12 members in an autosomal dominant pedigree pattern were found to have small or absent patellas. Seven of these persons also had abnormalities of the pelvic girdle and upper ...
Molecular genetics OMIM In 6 families with small patella syndrome, Bongers et al. (2004) identified heterozygous loss-of-function mutations in the TBX4 gene (601719). TBX4 encodes a transcription factor with a strongly conserved DNA-binding T-box domain that plays a crucial role in ...