FGFR2-dependent dysplasia with curved bones
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The FGFR2-related dysplasia with curved bone is a rare, often fatal running congenital bone malformations ( skeletal ) the main features striking face change ( facial dysmorphia ), premature suture closure ( craniosynostosis ) to small-scale clavicles and the pubic bones and bent long bones . The cause is a gene mutation.
Synonyms are: dysplasia with curved bones, lethal perinatal form; English Bent bone dysplasia syndrome; BBDS; Bent bone dysplasia (BBD) -FGFR2 type
The first description is from 2012 by the American doctor Amy E. Merrill and colleagues.
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .
root cause
Of the disease are mutations in FGFR2 - gene on chromosome 10 locus q26.13 based, which for the fibroblast growth factor encoded receptor 2 (FGFR2).
This gene is involved in a variety of diseases:
- Antley-Bixler Syndrome
- Apert syndrome
- Beare Stevenson Cutis Gyrata Syndrome
- Crouzon's syndrome
- Jackson-Weiss Syndrome
- LADD syndrome (Lakrimo-auriculo-dento-digitales syndrome)
- Pfeiffer syndrome
- Saethre-Chotzen syndrome
Clinical manifestations
Clinical criteria are:
- Manifestation in newborn or toddler age
- Facial abnormalities with deeply attached auricles rotated backwards, hypertelorism , hypoplasia of the midface, micrognathia
- too large eyeball (megalophthalmos)
- Craniosynostosis, reduced calcium content of the skull bones
- Hypoplasia of the collarbones and pubic bones
- Bent long tubular bones, especially of the femur
Premature tooth development , osteopenia , hirsutism , clitoral hypertrophy , gingival hyperplasia and hepatosplenomegaly with extramedullary hematopoiesis can also occur.
literature
- CL Beside, CT Tuzon, X. Mao, FD Lay, AE Merrill: FGFR2 mutations in bent bone dysplasia syndrome activate nucleolar stress and perturb cell fate determination. In: Human Molecular Genetics . Volume 26, number 17, 09 2017, pp. 3253–3270, doi: 10.1093 / hmg / ddx209 , PMID 28595297 , PMC 5886181 (free full text).
- CL Beside, B. Idoni, JE Salva, CT Tuzon, JC Rice, D. Krakow, AE Merrill: Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription. In: Human Molecular Genetics . Volume 23, number 21, November 2014, pp. 5659-5671, doi: 10.1093 / hmg / ddu282 , PMID 24908667 , PMC 4189901 (free full text).
Individual evidence
- ↑ a b c FGFR2-dependent dysplasia with curved bones. In: Orphanet (Rare Disease Database).
- ↑ AE Merrill, A. Sarukhanov, P. Krejci, B. Idoni, N. Camacho, KD Estrada, KM Lyons, H. Deixler, H. Robinson, D. Chitayat, CJ Curry, RS Lachman, WR Wilcox, D. Krakow : Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. In: American Journal of Human Genetics . Volume 90, number 3, March 2012, pp. 550-557, doi: 10.1016 / j.ajhg.2012.02.005 , PMID 22387015 , PMC 3309195 (free full text).
- ^ Bent bone dysplasia syndrome. In: Online Mendelian Inheritance in Man . (English)
- ↑ FGFR2. In: Online Mendelian Inheritance in Man . (English)
- ↑ Lakrimo-auriculo-dento-digital syndrome. In: Orphanet (Rare Disease Database).
