Medicine:Hecht Scott syndrome
| Hecht Scott syndrome | |
|---|---|
| Other names | Fibular aplasia–tibial campomelia–oligosyndactyly (FATCO) syndrome |
| Diagnostic method | Radiographs, physical examination |
| Management | Orthoses, Limb lengthening, Epiphysiodesis, Early amputations, Prosthesis |
Hecht Scott syndrome (also known as fibular aplasia–tibial campomelia–oligosyndactyly (FATCO) syndrome) is a rare genetic disease that causes congenital limb formation.[citation needed] The main characterisation is the aplasia or hypoplasia of bones (mainly the fibula or tibia) of the limb.[1] It is currently presenting in less than 1 in 1,000,000 newborns.[2] It has been known to be more commonly present in males.[citation needed] It was first diagnosed in 2005 by Courtens et al. who recognised the malformations with his present case and four others that were similarly described in literature.[3]
Signs and symptoms
Hecht Scott syndrome effects the tibia and fibula.[1] Common physical symptoms show a short leg, the ankle and foot being short and deformed, absence of rays and bowing of the tibia.[4] Another physical symptom is the presence of contralateral oligosyndactyly of the hand.[1] Hecht Scott syndrome is also associated with psychosocial morbidity and mortality.[4] Therefore, early diagnosis and treatment of this syndrome is vital.[4] Prenatal screening can reveal whether the child will have Hecht Scott syndrome by observing skeletal abnormalities.[5]
Genetics
WNT7A is a gene that is a member of the WNT family.[6] The WNT family consists of structurally related genes.[6] Mutations in WNT7A causes a range of diseases associated with limb malformations.[7] Such diseases include Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia syndrome.[7] However, in the case of Hecht Scott syndrome there seems to be no mutation in the WNT7A gene.[7] Furthermore, there is a cluster of homeobox D genes on chromosome 2 that participates in the development of limbs.[citation needed] There is no evidence of mutations on these genes being the cause of Hecht Scott syndrome. There is no conclusive prognosis of mutation in genes causing Hecht Scott evidence but due to the high prevalence of this disease in males, it was suggested by Hecht and Scott that the disease has an "autosomal dominant gene with decreased penetrance or gonadal mosaicism."[3] Evans et al. have also defined Hecht Scott syndrome as a "heterogeneous disorder with a dominant inheritance".[8]
Hecht Scott syndrome often gets confused with Fuhrmann syndrome.[9] However, in the case of Fuhrmann's syndrome, there is a homozygous mutation of WNT7A gene[9] Furthermore, Fuhrmann syndrome patients present with pelvic and femur abnormalities.[10]
Treatment
There is no prevention of Hecht Scott syndrome as there is no clear understanding of the causation of this disease. However, there are possible methods to treat this disease. This includes:
- Uses of orthoses[4]
- Limb lengthening[4]
- Epiphysiodesis[4]
- Early amputations[4]
- Application of a prosthesis[4]
There has been positive feedback with the use of Syme amputation.[4]
History
Hecht Scott syndrome was first described in literature in 1981 by Jacqueline T. Hecht and Charles I. Scott, Jr.[3] They outlined the symptoms in a male and a female. Hecht and Scott suggested that there was a genetic etiology as the same symptoms appeared in half-siblings.[3] They further narrowed it down to an "autosomal dominant mutant gene with decreased penetrance or gonadal mosaicism in the mother".[3]
Courtens et al. first published their findings on Fibular Aplasia Tibial Campomelia and Oligosyndactyly (FATCO) in 2005 in the American Journal of Medical Genetics. They identified a newborn male with similar symptoms as described in Hecht and Scott's journal and four other cases.[3] The common finding amongst all five journals was fibular aplasia, tibial campomelia, and oligosyndactly.[1] Courtens et al. then proposed to call this disease fibular aplasia–tibial campomelia–oligosyndactyly (FATCO) syndrome.[1] It was also named as Hecht Scott syndrome due to the authors of the original paper that described the disease.
References
- ↑ 1.0 1.1 1.2 1.3 1.4 Courtens, Winnie (2005). "Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly in a Male Newborn Infant: A Case Report and Review of the Literature". American Journal of Medical Genetics 134A (3): 321–325. doi:10.1002/ajmg.a.30441. PMID 15754355.
- ↑ "Orphanet: FATCO syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2492.
- ↑ 3.0 3.1 3.2 3.3 3.4 3.5 Hecht, Jacqueline T.; Scott, Jr, Charles I. (1981). "Limb deficiency syndrome in half-sibs". Clinical Genetics 20 (6): 432–437. doi:10.1111/j.1399-0004.1981.tb01054.x. PMID 7337959.
- ↑ 4.0 4.1 4.2 4.3 4.4 4.5 4.6 4.7 4.8 Ahmad, Khurshid; Malla, Hilal Ahmad; Dawood, Sheikh (2017). "FATCO Syndrome (Fibular Aplasia, Tibial Campomelia, Oligosyndactyly with Talar Aplasia). A Case Study". Ortopedia Traumatologia Rehabilitacja 19 (1): 75–78. doi:10.5604/15093492.1235280. PMID 28436373. https://ortopedia.com.pl/resources/html/article/details?id=145514.
- ↑ Capece, G.; Fasolino, A.; Monica, M. Della; Lonardo, F.; Scarano, G.; Neri, G. (1994). "Prenatal diagnosis of femur-fibula-ulna complex by ultrasonography in a male fetus at 24 weeks of gestation". Prenatal Diagnosis 14 (6): 502–505. doi:10.1002/pd.1970140616. ISSN 0197-3851. PMID 7937589.
- ↑ 6.0 6.1 "WNT7A gene" (in en). https://ghr.nlm.nih.gov/gene/WNT7A.
- ↑ 7.0 7.1 7.2 Karaman, A; Kahveci, H (2010). "A Male Newborn Infant with FATCO Syndrome (Fibular Aplasia, Tibial Campomelia and Oligodactyly): A Case Report". Genetic Counseling 21 (3): 285–288. PMID 20964118.
- ↑ Evans, Jane A.; Reed, Martin H.; Greenberg, Cheryl H. (2002). "Fibular aplasia with ectrodactyly". American Journal of Medical Genetics 113 (1): 52–58. doi:10.1002/ajmg.10754. PMID 12400066.
- ↑ 9.0 9.1 El-Beheiry, Ahmed; Abdalla, Ebtesam (2017-01-02). "Overlap between Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly and Fuhrmann's Syndromes in an Egyptian Female Infant". Journal of Pediatric Genetics 06 (2): 118–121. doi:10.1055/s-0036-1597931. ISSN 2146-4596. PMID 28497002.
- ↑ Kitaoka, Taichi; Namba, Noriyuki; Kim, Ji Yoo; Kubota, Takuo; Miura, Kohji; Miyoshi, Yoko; Hirai, Haruhiko; Kogo, Mikihiko et al. (2009). "A Japanese Male Patient with 'Fibular Aplasia, Tibial Campomelia and Oligodactyly': An Additional Case Report". Clinical Pediatric Endocrinology 18 (3): 81–86. doi:10.1297/cpe.18.81. ISSN 0918-5739. PMID 23926365.
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