FGFR2-related bent bone dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: BBDS
Perinatal lethal bent bone dysplasia
Number of Symptoms 30
OrphanetNr: 313855
OMIM Id: 614592
ICD-10:
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: Bent bone dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000057) Clitoromegaly 30 / 7739
2
 (HPO:0011800) Midface retrusion 221 / 7739
3
 (HPO:0004440) Coronal craniosynostosis 38 / 7739
4
 (HPO:0000347) Micrognathia 426 / 7739
5
 (HPO:0000316) Hypertelorism 644 / 7739
6
 (HPO:0000272) Malar flattening 277 / 7739
7
 (HPO:0000212) Gingival overgrowth 43 / 7739
8
 (HPO:0000369) Low-set ears 372 / 7739
9
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
10
 (HPO:0001591) Bell-shaped thorax 35 / 7739
11
 (HPO:0000894) Short clavicles 30 / 7739
12
 (HPO:0001433) Hepatosplenomegaly rare [HPO:skoehler] 78 / 7739
13
 (HPO:0001007) Hirsutism 91 / 7739
14
 (OMIM) Narrow acetabular roof 1 / 7739
15
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
16
 (OMIM) Areas of deficient ossification 1 / 7739
17
 (MedDRA:10072883) Brachydactyly 153 / 7739
18
 (OMIM) Areas of periosteal reaction 1 / 7739
19
 (OMIM) Open metopic suture 1 / 7739
20
 (OMIM) Diminished mineralization of the calvarium 1 / 7739
21
 (OMIM) Hepatosplenomegaly, with extramedullary hematopoiesis (rare) 1 / 7739
22
 (OMIM) Decreased mineralization of pubis 1 / 7739
23
 (OMIM) Overfolded superior helix 1 / 7739
24
 (OMIM) Deficient auricle 1 / 7739
25
 (OMIM) Prenatal teeth 1 / 7739
26
 (OMIM) Prominent periosteum 1 / 7739
27
 (OMIM) Decreased mineralization of inferior margin of scapula 1 / 7739
28
 (OMIM) Narrowed ischia 1 / 7739
29
 (OMIM) Bending of long bones to varying degrees, particularly femora 1 / 7739
30
 (OMIM) Megalophthalmos 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Merrill et al. (2012) studied 4 fetuses, 3 female and 1 male, with a perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent ...
Molecular genetics OMIM Merrill et al. (2012) analyzed 6 candidate genes in 3 female fetuses and 1 male fetus with a perinatal lethal bent bone dysplasia syndrome and identified heterozygosity for the same de novo missense mutation in the FGFR2 gene ...