Edit concept Question Editor Create issue ticket

FGFR2-Related Bent Bone Dysplasia

Perinatal Lethal Bent Bone Dysplasia


Presentation

  • Presentation [ edit ] Fibrous dysplasia of the right zygomatic bone (left in the image). Corresponding T2-weighted MRI (left) and CT (right) of the same patient.[en.wikipedia.org]
  • […] pulmonary compromise Life span may be shortened due to respiratory complications DYNC2H1 Short-rib thoracic dystrophy 3 (with or without polydactyly)/asphyxiating thoracic dysplasia-3/Jeune syndrome AR Constricted thoracic cage, polydactyly variably present[arupconsult.com]
  • Femoral fractures were also present in our case. Although craniosynostosis is a hallmark of the disease, clinicians should be aware that craniosynostosis might not be readily apparent on plain films early in gestation.[link.springer.com]
  • Present On Admission POA Help "Present On Admission" is defined as present at the time the order for inpatient admission occurs — conditions that develop during an outpatient encounter, including emergency department, observation, or outpatient surgery[icd10data.com]
  • (Pro361Pro)] variant within exon IIIc, which was also present in II-1 and I-1. Figure 1 Pedigrees and facial features of individuals with FGFR2 mutations.[bmcmedgenet.biomedcentral.com]
Amyloidosis
  • , Arctic type Hereditary cerebral hemorrhage with amyloidosis, Dutch type Hereditary cerebral hemorrhage with amyloidosis, Flemish type Hereditary cerebral hemorrhage with amyloidosis, Iowa type Hereditary cerebral hemorrhage with amyloidosis, Italian[csbg.cnb.csic.es]
  • […] the gene - - 0.8 APOA2 Apolipoprotein A-II deficiency, AApoAII amyloidosis Sequencing of all coding exons of the gene - - 0.3 APOA5 Hyperchylomicronemia, late-onset Sequencing of all coding exons of the gene - - 1.1 APP Alzheimer Dementia Sequencing[cegat.de]
  • Coloboma 5 MCOPCB5 611638 Genetic Test Registry Microvascular Complications Of Diabetes, Susceptibility To, 4 MVCD4 612628 Genetic Test Registry Miyoshi Muscular Dystrophy 3 MMD3 613319 Genetic Test Registry Muckle-Wells Syndrome Urticaria-Deafness-Amyloidosis[ukgtn.nhs.uk]
Italian
  • […] amyloidosis, Arctic type Hereditary cerebral hemorrhage with amyloidosis, Dutch type Hereditary cerebral hemorrhage with amyloidosis, Flemish type Hereditary cerebral hemorrhage with amyloidosis, Iowa type Hereditary cerebral hemorrhage with amyloidosis, Italian[csbg.cnb.csic.es]
Microdontia
  • Pfeiffer syndrome type 3 Saethre-Chotzen syndrome Kallmann syndrome Normosmic congenital hypogonadotropic hypogonadism Aplasia of lacrimal and salivary glands Autosomal agammaglobulinemia SHORT syndrome Deafness with labyrinthine aplasia, microtia, and microdontia[csbg.cnb.csic.es]
Hepatosplenomegaly
Osteopenia
  • NIH Rare Diseases : 53 Bent bone dysplasia syndromeis an often lethal skeletal disorder characterized by poor mineralization of the skull (calvarium), craniosynostosis, underdeveloped (hypoplastic) pubic bone (pubis) and clavicles, osteopenia, and bent[malacards.org]
  • Bent bone dysplasia syndrome is an often lethal skeletal disorder characterized by poor mineralization of the skull (calvarium), craniosynostosis, underdeveloped (hypoplastic) pubic bone (pubis) and clavicles, osteopenia, and bent long bones. [1] Unusual[rarediseases.info.nih.gov]
  • […] identified de novo FGFR2 mutations in a sporadically occurring perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia[ncbi.nlm.nih.gov]
  • Bent bone dysplasia syndrome: 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 long bones.[ab-y-ss.com]
Eruptions
  • Dysmorphic facial features included low-set ears, hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia.[malacards.org]
  • […] skull (calvarium), craniosynostosis, underdeveloped (hypoplastic) pubic bone (pubis) and clavicles, osteopenia, and bent long bones. [1] Unusual facial features include low-set ears, widely spaced eyes (hypertelorism), midface hypoplasia, prematurely erupted[rarediseases.info.nih.gov]
  • […] related disorders These include the following conditions: Cleidocranial dysplasia [23] CDAGS (craniosynostosis and clavicular hypoplasia; delayed closure of the fontanel, cranial defects, and deafness; anal anomalies; genitourinary malformations; skin eruption[emedicine.medscape.com]
  • , Primary Dental Noneruption Posterior Openbite Malocclusion, Familial Primary Failure Of Eruption, Nonsyndromic Primary Retention Of Teeth Unerupted Second Primary Molar PFE 125350 Genetic Test Registry Familial Cold Autoinflammatory Syndrome 1 FCAS1[ukgtn.nhs.uk]
Low Set Ears
  • Dysmorphic facial features included low-set ears, hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia.[malacards.org]
  • […] is an often lethal skeletal disorder characterized by poor mineralization of the skull (calvarium), craniosynostosis, underdeveloped (hypoplastic) pubic bone (pubis) and clavicles, osteopenia, and bent long bones. [1] Unusual facial features include low-set[rarediseases.info.nih.gov]
  • Those affected by this disorder may have distorted facial features like low set ears, teeth at birth and a smaller jaw. The disorder starts during fetal development and usually results in death before delivery or shortly after birth.[diseaseinfosearch.org]
  • It is characterized by early closure of the sutures between the skull bones, bulging eyes, low-set ears, fusion of the second, third, and forth fingers, and fusion of the toes.[icd10data.com]
Hypertelorism
  • Dysmorphic facial features included low-set ears, hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia.[malacards.org]
  • […] disorder characterized by poor mineralization of the skull (calvarium), craniosynostosis, underdeveloped (hypoplastic) pubic bone (pubis) and clavicles, osteopenia, and bent long bones. [1] Unusual facial features include low-set ears, widely spaced eyes (hypertelorism[rarediseases.info.nih.gov]
  • The craniosynostosis may be severe and present as a cloverleaf skull with hypertelorism, a broad nasal bridge, cleft palate, and hypodontia.[basicmedicalkey.com]
  • Physical examination showed a mild cloverleaf skull with temporal bulging and reduced OFC (36 cm; -2.2 SD), hypertelorism, and severe exorbitism mainly at the infra-orbital level.[bmcmedgenet.biomedcentral.com]
Seizure
  • […] with amyloidosis, Flemish type Hereditary cerebral hemorrhage with amyloidosis, Iowa type Hereditary cerebral hemorrhage with amyloidosis, Italian type Hereditary cerebral hemorrhage with amyloidosis, Piedmont type Aldosterone-producing adenoma with seizures[csbg.cnb.csic.es]
  • […] plus, type 5, susceptibility to Sequencing of all coding exons of the gene - - 1.4 GABRD Generalised Epilepsy with febrile seizures plus (GEFS ) Sequencing of all coding exons of the gene - - 1.4 GABRD Juvenile Myoclonus Epilepsy (JME) Sequencing of[cegat.de]
  • Hypochondroplasia HCH 146000 Genetic Test Registry Hypogonadotropic Hypogonadism 2 With Or Without Anosmia HH2 147950 Genetic Test Registry Hypoparathyroidism-Retardation-Dysmorphism Syndrome Hypoparathyroidism With Short Stature, Mental Retardation, And Seizures[ukgtn.nhs.uk]

Treatment

  • There is no treatment or cure for this condition. If your family member has been diagnosed with bent bone dysplasia, talk with your doctor about the most current treatment options. Support groups are also good resources for support and information.[diseaseinfosearch.org]
  • Stay at the forefront of your field with updated treatment methods throughout, as well as an increased focus on patients with skin of color.[books.google.com]
  • Treatment [ edit ] Treatment in fibrous dysplasia is mainly palliative, and is focused on managing fractures and preventing deformity. There are no medications capable of altering the disease course.[en.wikipedia.org]
  • Treatment involves a multidisciplinary approach with ultimate surgical fixation of the cranial deformity to prevent further sequelae.[ncbi.nlm.nih.gov]
  • His current research interests include treatment of lysosomal storage diseases; the clinical definition, morphology, pathophysiology and treatment of human dwarfing conditions (skeletal dysplasias); and genetic defects in the Marinesco-Sjögren syndrome[growingstronger.org]

Prognosis

  • Achondroplasia, in thehomozygous form, is similar to TD in the early onset,skeletal characteristics and poor prognosis. It can bediagnosed by molecular analysis and the fact that usuallyboth parents are affected with achondroplasia.[docslide.com.br]
  • There is also evidence that changes in specific FGFR expression may be related to prognosis or sensitivity to cancer treatments ( 5–7 ).[clincancerres.aacrjournals.org]
  • […] by FGFR2 amplification mutants, organism-specific biosystem (from REACTOME) Signaling by FGFR2 amplification mutants, organism-specific biosystem FGFR2 amplifications have been identified in 10% of gastric cancers, where they are associated with poor prognosis[ncbi.nlm.nih.gov]

Etiology

  • However, innone of the cases were these results crucial for makinga diagnosis.DiscussionThe osteochondrodysplasias are etiologically a heteroge-nous group of disorders with more than 456 conditionscurrently recognized and classified in 40 total Nosologygroups[docslide.com.br]
  • Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology.[icd10data.com]

Epidemiology

  • Limited cutaneous systemic sclerosis Synonym(s): - Perinatal lethal bent bone dysplasia Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Classification (ICD10): (no data available) Epidemiological[csbg.cnb.csic.es]
  • Sleiman & Hakon Hakonarson Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, 21205, USA Adrienne Tin Department of Computer Science, New Jersey Institute of Technology, Newark, New Jersey, 07102, USA Zhi[nature.com]
  • However, there are no published epidemiologic data to suggest that individuals with germline FGFR aberrations and dwarfism have an increased incidence of cancer, suggesting that developmental compensatory mechanisms can mitigate the oncogenic potential[clincancerres.aacrjournals.org]
Sex distribution
Age distribution

Pathophysiology

  • H&E stain Pathophysiology [ edit ] Fibrous dysplasia is a mosaic disease resulting from post-zygotic activating mutations of the GNAS locus at 20q13.2-q13.3, which codes for the α subunit of the G s G-coupled protein receptor. [9] In bone, constitutive[en.wikipedia.org]
  • His current research interests include treatment of lysosomal storage diseases; the clinical definition, morphology, pathophysiology and treatment of human dwarfing conditions (skeletal dysplasias); and genetic defects in the Marinesco-Sjögren syndrome[growingstronger.org]
  • Ibrahimi OA et al. (2004) Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities. [ ] 91.[moldiag.com]

Prevention

  • Treatment involves a multidisciplinary approach with ultimate surgical fixation of the cranial deformity to prevent further sequelae.[ncbi.nlm.nih.gov]
  • Clinical and imaging follow-up, with possible early surgery, may help prevent secondary intellectual disability. Figure/Table Supplementary Article Metrics 1.[aimspress.com]
  • Treatment [ edit ] Treatment in fibrous dysplasia is mainly palliative, and is focused on managing fractures and preventing deformity. There are no medications capable of altering the disease course.[en.wikipedia.org]
  • Shukla V et al. (2007) RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis. [ ] 104.[moldiag.com]
  • Our results are also relevant to prevention.[nature.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!