Familial digital arthropathy-brachydactyly

General Information (adopted from Orphanet):

Synonyms, Signs: FDAB
Number of Symptoms 15
OrphanetNr: 85169
OMIM Id: 606835
ICD-10: M06.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
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
TRPV4-related bone disorder
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
2
 (HPO:0003040) Arthropathy 19 / 7739
3
 (HPO:0003795) Short middle phalanx of toe 4 / 7739
4
 (HPO:0005819) Short middle phalanx of finger 28 / 7739
5
 (HPO:0009882) Short distal phalanx of finger 125 / 7739
6
 (HPO:0005872) Brachytelomesophalangy 2 / 7739
7
 (HPO:0009466) Radial deviation of finger 101 / 7739
8
 (HPO:0001167) Abnormality of finger Very frequent [Orphanet] 29 / 7739
9
 (HPO:0002763) Abnormal cartilage morphology Very frequent [Orphanet] 15 / 7739
10
 (HPO:0001857) Short distal phalanx of toe 6 / 7739
11
 (OMIM) Progressive arthropathy of the interphalangeal and metatarsophalangeal joints 1 / 7739
12
 (HPO:0003621) Juvenile onset 105 / 7739
13
 (OMIM) Progressive arthropathy of the interphalangeal and metacarpophalangeal joints 1 / 7739
14
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
15
 (OMIM) Normal bone age 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Individuals with familial digital arthropathy-brachydactyly appear normal at birth, with no clinical or radiographic evidence of a developmental skeletal dysplasia. The earliest changes appear during the first decade of life and involve irregularities in the proximal articular surfaces ...
Clinical Description OMIM Amor et al. (2002) described a large, 5-generation pedigree in which many members had a dominantly inherited condition, which the authors designated familial digital arthropathy-brachydactyly, comprising progressive brachydactyly of the middle and distal phalanges of the hands and ...
Molecular genetics OMIM In 2 families with digital arthropathy-brachydactyly mapping to chromosome 12q24, 1 of which was the family originally described by Amor et al. (2002), Lamande et al. (2011) analyzed the candidate gene TRPV4 and identified 2 different heterozygous missense ...