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Splenogonadal fusion is a rare congenital malformation that results from an abnormal connection between the primitive spleen and gonad during gestation. A portion of the splenic tissue then descends with the gonad. Splenogonadal fusion has been classified into two types: continuous, where there remains a connection between the main spleen and gonad; and discontinuous, where ectopic splenic tissue is attached to the gonad, but there is no connection to the orthotopic spleen. Patients can also be have an accessory spleen. Patients with continuous splenogonadal fusion frequently have additional congenital abnormalities including limb defects, micrognathia, skull anomalies, Spina bifida, cardiac defects, anorectal abnormalities, and most commonly cryptorchidism. Terminal limb defects have been documented in at least 25 cases which makes up a separate diagnosis of splenogonadal fusion limb defect (SGFLD) syndrome.
XK aprosencephaly is an extremely rare congenital disorder characterized by the absence of the embryonic forebrain. Because the prosencephalon gives way to the cerebral cortex, survival with aprosencephaly is not possible outside utero. The external symptoms are similar to holoprosencephaly, a related disorder, including a smaller than normal head (microcephaly), small eyeballs (microphthalmia), a small mouth (microstomia), anal atresia, and abnormalities of the external genitalia, radius, nostrils, and pharynx (throat).
Weyer's ulnar ray/oligodactyly syndrome is a rare multi-systemic genetic disorder which is characterized by ectrodactyly, ulnar, radial, or fibular ray deficit, and heart, single central incisor, splenic, and renal abnormalities. Cleft lip/palate and hypoplasia of the mandibles have also been observed. It is thought to be inherited in an autosomal recessive pattern. It was first discovered in 1957 by Weyers et al. Only four families worldwide are known to be affected by the disorder.
IVIC syndrome, also known as Instituto Venezolano de Investigaciónes Científicas syndrome or oculo-oto-radial syndrome is a very rare autosomal dominant limb malformation genetic disorder that is characterized by upper limb and ocular abnormalities and congenital hearing loss on both ears.
Saito-Kuba-Tsuruta syndrome, also known as Fibulo-ulnar hypoplasia-renal anomalies syndrome, is a very rare genetic disorder which is characterized by fibulo-ulnar dysplasia associated with renal abnormalities. It is associated with neo-natal respiratory failure soon after birth.
Brachydactyly-long thumb syndrome is a very rare genetic disorder which is characterized by symmetric brachydactyly of the fingers accompanied by an abnormally long thumb, hypomobility of the shoulder and metacarpo-phalangeal joints, and heart conduction defects. Small feet and hands, small shoulders accompanied with short clavicles, clinodactyly, pectus excavatum, mild limb shortening, cardiomegaly, and pulmonic stenosis murmur have also been reported. It was first discovered when D W Hollister et al. described 4 affected members belonging to a 3-generation family. No new cases have been reported since 1981. This disorder is inherited in an autosomal dominant manner.
Camera-Marugo-Cohen syndrome, also known as Obesity, mental retardation, body asymmetry and muscle weakness syndrome is a very rare genetic disorder which is characterized by familial obesity, intellectual disabilities, body asymmetry, and muscular weakness. It is a type of syndromic obesity/obesity syndrome. 2 cases have been reported in medical literature
Waardenburg anophthalmia syndrome is a rare autosomal recessive genetic disorder which is characterized by either microphthalmia or anophthalmia, osseous synostosis, ectrodactylism, polydactylism, and syndactylism. So far, 29 cases from families in Brazil, Italy, Turkey, and Lebanon have been reported worldwide. This condition is caused by homozygous mutations in the SMOC1 gene, in chromosome 14.
Acro-oto-radial syndrome, also known as Pseudopapilledema blepharophimosis hand anomalies syndrome is a very rare hereditary disorder which is characterized by pseudopapilledema, hearing loss, cranio-facial dysmorphisms and hand/foot anomalies. Unlike other genetic syndromes, people with this syndrome don't exhibit intellectual disabilities. Only 4 cases have been reported in medical literature.
Acrocraniofacial dysostosis, also known as Kaplan Plauchu Fitch syndrome is a very rare hereditary disorder which is characterized by cranio-facial dysmorphisms, hearing loss, digital clubbing, and osseous anomalies. Only 2 cases have been described in medical literature.
Growth delay-hydrocephaly-lung hypoplasia syndrome, also known as Game-Friedman-Paradice syndrome is a very rare hereditary disorder which is characterized by developmental, lung, and brain anomalies. Only 4 cases have been reported in medical literature.
Gollop-Wolfgang complex is a very rare genetic disorder which is characterized by skeletal and digital anomalies.
Trigonocephaly-bifid nose-acral anomalies syndrome is a very rare genetic disorder which is characterized by trigonobrachycephaly, narrow forehead, up-ward slanting parpebral fissures, bulbous, slightly bifid nose, macrostomia, thin upper lip, macrognathia(facial dysmorphisms), broad thumbs, rather large toes, broad fingertips with short nail beds, joint hypermobility and fifth finger clinodactyly(acral). Additional findings include short height, hypotonia and severe psychomotor retardation. It has been described in a brother and a sister born to healthy consanguineous Palestianian-Arab parents.
Megalocornea-intellectual disability syndrome, also known as Neuhauser syndrome, is a very rare genetic disorder which is characterized by megalocornea, hypotonia from birth, variable intellectual disabilities, psychomotor delays, developmental delays, and facial dysmorphisms such as round face, frontal bossing, antimongoloid slants of the eyes, epicanthal fold, large, low-set ears, broad nasal bridge, nostril anteversion, and increased length of the upper lip. According to OMIM, only 24 cases have been described in medical literature.
Meacham syndrome is a rare genetic disorder which is characterized by lung, diaphragmatic and genitourinary anomalies.
Small patella syndrome is a rare genetic limb malformation syndrome which is characterized by absence or underdevelopment of the patella, ischiopubic junction abnormal ossification. Other findings include hallux varus, brachymetatarsia affecting the fourth and fifth metatarsals, flat feet, and the presence of an elongated edial patellofemoral ligament. Less common findings include micrognathia, cleft palate, frontal bossing and nose prominence. Complications include infancy-onset recurrence of luxations, pain of the knee, impaired ability of running and riding bicycles, and late-onset gonarthrosis, although it is not uncommon for some cases to be asymptomatic. This condition is caused by autosomal dominant mutations in the TBX4 gene, in chromosome 17. Around 50-70 cases have been described in medical literature. Diagnosis is made through genetic testing and radiography.
Split hand split foot-nystagmus syndrome, also known as Karsch-Neugebauer syndrome is a rare genetic disorder which is characterized by the absence of the central rays of the hands and foot resulting in an apparent "split hand and split foot", alongside congenital nystagmus and other eye abnormalities such as cataracts. It is inherited in an autosomal dominant manner. Only 10 cases from 4 families worldwide have been described in medical literature.
Intellectual disability-spasticity-ectrodactyly syndrome, also known as Jancar syndrome, is a rare autosomal recessive genetic disorder which is characterized by severe intellectual disabilities, hereditary spastic paraplegia, and defects of the distal limbs, such as syndactyly, ectrodactyly, and clinodactyly. Only 3 families in England and Israel have been described in medical literature.
Aplasia cutis-myopia syndrome is a rare genetic disorder characterized by a combination of aplasia cutis congenita, high myopia, and dysfunction of the cone-rods. Other findings include congenital nystagmus, atrophy of the iris and pigment epithelium, easily scarred skin and keratoconus. Only 4 cases have been described in medical literature. Transmission is either autosomal dominant or autosomal recessive.
Porencephaly-cerebellar hypoplasia-internal malformations syndrome is a rare autosomal recessive syndrome that mainly affects the central nervous system. It causes cardiac defects, brain anomalies, and craniofacial dysmorphisms. It has been reported in a pair of German siblings of the opposite sex born to consanguineous Turkish parents.
References
- ↑ "Splenogonadal fusion limb defects micrognatia". Archived from the original on 2022-05-13. Retrieved 2022-07-19.
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Splenogonadal fusion limb defects micrognathia syndrome". www.orpha.net. Archived from the original on 2022-07-19. Retrieved 2022-07-19.
- ↑ "Splenogonadal fusion limb defects micrognatia - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Archived from the original on 2021-07-28. Retrieved 2022-07-19.
- ↑ "Splenogonadal Fusion with Limb Defects and Micrognathia - CAGS". cags.org.ae. Archived from the original on 2022-07-19. Retrieved 2022-07-19.
- 1 2 HINES, JAMES R.; EGGUM, PAUL R. (1961-12-01). "Splenic-Gonadal Fusion Causing Bowel Obstruction". Archives of Surgery. 83 (6): 887–889. doi:10.1001/archsurg.1961.01300180087016. ISSN 0004-0010. PMID 13907534. Archived from the original on 2022-07-19. Retrieved 2022-07-19.
- ↑ McPherson, Fiona; Frias, Jaime L.; Spicer, Diane; Opitz, John M.; Gilbert-Barness, Enid F. (2003-08-01). "Splenogonadal fusion-limb defect "syndrome" and associated malformations". American Journal of Medical Genetics. Part A. 120A (4): 518–522. doi:10.1002/ajmg.a.10728. ISSN 1552-4825. PMID 12884431. S2CID 40127231. Archived from the original on 2022-03-22. Retrieved 2022-07-19.
- ↑ "Clinical Synopsis - 183300 - SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA - OMIM". omim.org. Archived from the original on 2022-07-19. Retrieved 2022-07-19.
- ↑ "Entry - 183300 - SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA - OMIM". omim.org. Archived from the original on 2022-07-19. Retrieved 2022-07-19.
- ↑ Putschar, Walter G. J.; Manion, William C. (1956-02-01). "Splenic-Gonadal Fusion". The American Journal of Pathology. 32 (1): 15–33. ISSN 0002-9440. PMC 1942585 . PMID 13275562.
- ↑ Pauli, R. M.; Greenlaw, A. (1982-09-01). "Limb deficiency and splenogonadal fusion". American Journal of Medical Genetics. 13 (1): 81–90. doi:10.1002/ajmg.1320130113. ISSN 0148-7299. PMID 7137224. Archived from the original on 2022-07-19. Retrieved 2022-07-19.
- ↑ Bonneau, D.; Roume, J.; Gonzalez, M.; Toutain, A.; Carles, D.; Maréchaud, M.; Biran-Mucignat, V.; Amati, P.; Moraine, C. (1999-10-08). "Splenogonadal fusion limb defect syndrome: report of five new cases and review". American Journal of Medical Genetics. 86 (4): 347–358. doi:10.1002/(sici)1096-8628(19991008)86:4<347::aid-ajmg9>3.0.co;2-a. ISSN 0148-7299. PMID 10494091. Archived from the original on 2022-07-19. Retrieved 2022-07-19.