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Familial digital arthropathy-brachydactyly(FDAB)

MedGen UID:
335678
Concept ID:
C1847406
Disease or Syndrome
Synonym: Digital Arthropathy-Brachydactyly, Familial
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): TRPV4 (12q24.11)
 
Monarch Initiative: MONDO:0011732
OMIM®: 606835
Orphanet: ORPHA85169

Disease characteristics

Excerpted from the GeneReview: Autosomal Dominant TRPV4 Disorders
The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias. [from GeneReviews]
Authors:
Brett A McCray  |  Alice Schindler  |  Julie E Hoover-Fong, et. al.   view full author information

Additional description

From OMIM
Individuals with familial digital arthropathy-brachydactyly (FDAB) 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 of the distal interphalangeal joints of the hand. By adulthood, all interphalangeal, metacarpophalangeal, and metatarsophalangeal joints are affected by a deforming, painful osteoarthritis. The remainder of the skeleton is clinically and radiographically unaffected, thus distinguishing this disorder from other TRPV4 skeletal dysplasias, the cardinal features of which include abnormalities of the spine and disproportionate short stature (Lamande et al., 2011).  http://www.omim.org/entry/606835

Clinical features

From HPO
Radial deviation of finger
MedGen UID:
322852
Concept ID:
C1836189
Finding
Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
Short distal phalanx of finger
MedGen UID:
326590
Concept ID:
C1839829
Finding
Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
Short middle phalanx of finger
MedGen UID:
337690
Concept ID:
C1846950
Finding
Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.
Brachytelomesophalangy
MedGen UID:
376120
Concept ID:
C1847408
Finding
Disproportionately short middle and distal phalanges compared to the hand/foot.
Short middle phalanx of toe
MedGen UID:
867359
Concept ID:
C4021723
Anatomical Abnormality
Developmental hypoplasia (shortening) of middle phalanx of toe.
Short distal phalanx of toe
MedGen UID:
867401
Concept ID:
C4021771
Anatomical Abnormality
Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe.
Arthropathy
MedGen UID:
7190
Concept ID:
C0022408
Disease or Syndrome
Any disorder of the joints.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial digital arthropathy-brachydactyly
Follow this link to review classifications for Familial digital arthropathy-brachydactyly in Orphanet.

Recent clinical studies

Etiology

Ürel-Demir G, Şimşek-Kiper PÖ, Öncel İ, Utine GE, Haliloğlu G, Boduroğlu K
Eur J Paediatr Neurol 2021 May;32:46-55. Epub 2021 Mar 16 doi: 10.1016/j.ejpn.2021.03.011. PMID: 33774370

Diagnosis

Ürel-Demir G, Şimşek-Kiper PÖ, Öncel İ, Utine GE, Haliloğlu G, Boduroğlu K
Eur J Paediatr Neurol 2021 May;32:46-55. Epub 2021 Mar 16 doi: 10.1016/j.ejpn.2021.03.011. PMID: 33774370
Damseh N, Stimec J, O'Brien A, Marshall C, Savarirayan R, Jawad A, Laxer R, Kannu P
Orphanet J Rare Dis 2019 Jun 27;14(1):156. doi: 10.1186/s13023-019-1138-x. PMID: 31248428Free PMC Article

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