Ballard syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: BRACHYDACTYLY, BALLARD TYPE
Brachydactyly types B and E combined
pitt-williams brachydactyly
Number of Symptoms 16
OrphanetNr: 93395
OMIM Id: 112440
ICD-10: Q73.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 12 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with brachydactyly
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0011304) Broad thumb 39 / 7739
2
 (HPO:0010047) Short 5th metacarpal 8 / 7739
3
 (HPO:0009836) Broad distal phalanx of finger 8 / 7739
4
 (HPO:0009280) Short 4th finger 1 / 7739
5
 (HPO:0010044) Short 4th metacarpal 14 / 7739
6
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
7
 (HPO:0004689) Short fourth metatarsal 9 / 7739
8
 (HPO:0004704) Short fifth metatarsal 3 / 7739
9
 (HPO:0009237) Short 5th finger 16 / 7739
10
 (HPO:0009778) Short thumb 50 / 7739
11
 (HPO:0001598) Concave nail 14 / 7739
12
 (OMIM) Broad, short thumbs 4 / 7739
13
 (OMIM) Variable shortening 4th-5th metacarpals 1 / 7739
14
 (OMIM) Short 4th-5th fingers 1 / 7739
15
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
16
 (OMIM) Variable shortening 4th-5th metatarsals 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: