Upper limb mesomelic dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: UPPER LIMB MESOMELIC DYSPLASIA
Fryns-Hofkens-Fabry syndrome
Ulna hypoplasia
Number of Symptoms 15
OrphanetNr: 2497
OMIM Id: 191440
ICD-10: Q78.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Mesomelic and rhizo-mesomelic dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
2
 (HPO:0002997) Abnormality of the ulna Very frequent [Orphanet] 75 / 7739
3
 (HPO:0002986) Radial bowing 27 / 7739
4
 (HPO:0009487) Ulnar deviation of the hand 5 / 7739
5
 (HPO:0009465) Ulnar deviation of finger Very frequent [Orphanet] 48 / 7739
6
 (HPO:0001193) Ulnar deviation of the hand or of fingers of the hand 17 / 7739
7
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
8
 (HPO:0005011) Mesomelic arm shortening 13 / 7739
9
 (HPO:0006433) Dysplastic radii 1 / 7739
10
 (HPO:0005033) Distal ulnar hypoplasia 4 / 7739
11
 (OMIM) Mesomelia, severe (arms only) 1 / 7739
12
 (OMIM) Short, dysplastic radii 1 / 7739
13
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
14
 (OMIM) Short, dysplastic ulnae 1 / 7739
15
 (OMIM) Radial bowing, severe (adult) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Fryns et al. (1988) described an apparently new form of mesomelia in father and daughter. Other than hypoplasia of the ulna with severe radial bowing, there were no other abnormalities in the skeleton; specifically, the tibiae and fibulae ...