FGFR2-related bent bone dysplasia

FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophtalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated.



Input patient's signs and symptoms


Narrow down the case reports



Total: 0 (papers)
  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 27

HPO ID Term Frequency
HP:0000057 obsolete Clitoromegaly Very frequent (99-80%)
HP:0000212 Gingival overgrowth Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000356 Abnormality of the outer ear Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000485 Megalocornea Very frequent (99-80%)
HP:0000695 Natal tooth Very frequent (99-80%)
HP:0000894 Short clavicles Very frequent (99-80%)
HP:0000938 Osteopenia Very frequent (99-80%)
HP:0001007 Hirsutism Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001591 Bell-shaped thorax Very frequent (99-80%)
HP:0001978 Extramedullary hematopoiesis Very frequent (99-80%)
HP:0003175 Hypoplastic ischia Very frequent (99-80%)
HP:0004440 Coronal craniosynostosis Very frequent (99-80%)
HP:0004453 Overfolding of the superior helices Very frequent (99-80%)
HP:0005474 Decreased calvarial ossification Very frequent (99-80%)
HP:0007642 Congenital stationary night blindness Very frequent (99-80%)
HP:0010455 Steep acetabular roof Very frequent (99-80%)
HP:0011223 Metopic depression Very frequent (99-80%)
HP:0011800 Midface retrusion Very frequent (99-80%)
HP:0030042 Incomplete ossification of pubis Very frequent (99-80%)
HP:0040166 Abnormality of the periosteum Very frequent (99-80%)
HP:0001433 Hepatosplenomegaly Occasional (29-5%)
HP:0002814 Abnormality of the lower limb Occasional (29-5%)
HP:0002979 Bowing of the legs Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
FGFR2 fibroblast growth factor receptor 2 2263