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Schinzel–Giedion syndrome (SGS) is a congenital neurodegenerative terminal syndrome. It was first described in 1978 by Albert Schinzel (1944–) and Andreas Giedion (1925–) as a syndrome with severe midface retraction, skull anomalies, renal anomalies (hydronephrosis) and other anomalies. Babies born with Schinzel–Giedion syndrome have severe mental retardation, growth retardation and global developmental delay.
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Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare multi-systemic genetic disorder of unknown prevalence which is characterized by psycho-motor developmental delay, severe intellectual disabilities, severe muscle hypoplasia, absence of subcutaneous fat, generalized contractures, dolichocephaly, esotropia, asymmetric ears, and high palate, kyphoscoliosis, unilateral hypoplasia of the bronchial system, recurrent respiratory tract infections, atelectasis, arachnodactyly, cryptorchidism, hypospadias, and testicular agenesis. No new cases have been reported since 1970.
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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.
Thoracic dysplasia-hydrocephalus syndrome is a rare autosomal recessive genetic disorder characterized by shortening of the ribs, narrowing of the chest, mild shortening of the limbs (rhizomelia), hydrocephalus, and variable developmental delays. It has been described in two siblings born to consanguineous Pakistani parents.
X-linked complicated corpus callosum dysgenesis is a genetic disorder characterized by dysplasia, hypoplasia or agenesis of the corpus callosum alongside variable intellectual disability and spastic paraplegia. Only 13 cases have been described in medical literature. Transmission is X-linked recessive. It is the mildest subtype of L1 syndrome.
Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome is a rare autosomal dominant genetic disorder characterized by cardiofaciodigital anomalies occurring alongside Pierre Robin sequence. Additional features include abnormal sense of smell, camptodactyly, recurrent joint dislocations, and short stature. Around 6 to 12 cases have been described in medical literature.
Buttien-Fryns syndrome is a congenital genetic disorder that causes severe oligodactyly and micrognathia. It is caused by a change in the structure of the 10q gene. The condition has been reported in four patients, two of which were siblings.
References
- ↑ "Natalie Syndrome". Orphanet. Retrieved July 4, 2021.
- 1 2 "Nathalie syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2021-04-18.
- ↑ Developmental Disabilities Abstracts. Developmental Disabilities Office. 1977. p. 773.
- ↑ "Nathalie syndrome (Concept Id: C1850626) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2021-11-04.
- 1 2 Toriello, Helga V.; Smith, Shelley D. (2013-06-20). Hereditary Hearing Loss and Its Syndromes. Oxford University Press. p. 520. ISBN 978-0-19-931388-4.
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Nathalie syndrome". www.orpha.net. Retrieved 2021-11-04.
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