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Langer–Giedion syndrome (LGS) is a very uncommon autosomal dominant genetic disorder caused by a deletion of a small section of material on chromosome 8. It is named after the two doctors who undertook the main research into the condition in the 1960s. Diagnosis is usually made at birth or in early childhood.
Metachondromatosis is an autosomal dominant, incompletely penetrant genetic disease affecting the growth of bones, leading to exostoses primarily in the hands and feet as well as enchondromas of long bone metaphyses and iliac crests. This syndrome affects mainly tubular bones, though it can also involve the vertebrae, small joints, and flat bones. The disease is thought to affect exon 4 of the PTPN11 gene. Metachondromatosis is believed to be caused by an 11 base pair deletion resulting in a frameshift and nonsense mutation. The disease was discovered and named in 1971 by Pierre Maroteaux, a French physician, when he observed two families with skeletal radiologic features with exostoses and Ollier disease. The observation of one family with five affected people led to the identification of the disease as autosomal dominant. There have been less than 40 cases of the disease reported to date.
Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromelia and a head that appears large in comparison with the underdeveloped portions of the body. It is classified as short-limbed dwarfism.
Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly affects the bones and teeth. The collarbones are typically either poorly developed or absent, which allows the shoulders to be brought close together. The front of the skull often does not close until later, and those affected are often shorter than average. Other symptoms may include a prominent forehead, wide set eyes, abnormal teeth, and a flat nose. Symptoms vary among people; however, intelligence is typically unaffected.
Autosomal recessive multiple epiphyseal dysplasia (ARMED), also called epiphyseal dysplasia, multiple, 4 (EDM4), multiple epiphyseal dysplasia with clubfoot or –with bilayered patellae, is an autosomal recessive congenital disorder affecting cartilage and bone development. The disorder has relatively mild signs and symptoms, including joint pain, scoliosis, and malformations of the hands, feet, and knees.
Osteochondrodysplasia is a general term for a disorder of the development (dysplasia) of bone ("osteo") and cartilage ("chondro"). Osteochondrodysplasias are rare diseases. About 1 in 5,000 babies are born with some type of skeletal dysplasia. Nonetheless, if taken collectively, genetic skeletal dysplasias or osteochondrodysplasias comprise a recognizable group of genetically determined disorders with generalized skeletal affection. Osteochondrodysplasias can result in marked functional limitation and even mortality.
Pseudoachondroplasia is an inherited disorder of bone growth. It is a genetic autosomal dominant disorder. It is generally not discovered until 2–3 years of age, since growth is normal at first. Pseudoachondroplasia is usually first detected by a drop of linear growth in contrast to peers, a waddling gait or arising lower limb deformities.
Rosselli–Gulienetti syndrome, also known as Zlotogora–Ogur syndrome and Bowen–Armstrong syndrome, is a type of congenital ectodermal dysplasia syndrome. The syndrome is relatively rare and has only been described in a few cases.
Spondylo-meta-epiphyseal dysplasia (SMED) is a rare autosomal-recessive disease that causes skeletal disorders. SMED is thought to be caused by a mutation in the Discoidin Domain Receptor 2 (DDR2) gene.
Acromesomelic dysplasia is a rare skeletal disorder that causes abnormal bone and cartilage development, leading to shortening of the forearms, lower legs, hands, feet, fingers, and toes. Five different genetic mutations have been implicated in the disorder. Treatment is individualized but is generally aimed at palliating symptoms, for example, treatment of kyphosis and lumbar hyperlordosis.
Lowry-Wood syndrome, also simply known as LWS, is a very rare genetic disorder which is characterized by dysplasia of the epiphysis, low height/short stature, microcephaly, developmental delay, intellectual disabilities, and congenital nystagmus. Less common features include coxa vara and retinitis pigmentosa. Only 10 cases of this disorder have been described in medical literature. This disorder is associated with mutations in the RNU4ATAC gene, on chromosome 2q14.2
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.
Du Pan syndrome, also known as fibular hypoplasia and complex brachydactyly is an extremely rare genetic disorder which is characterized by hypoplasia, aplasia or dysplasia of the fibula, under-developee/abnormally developed hands and feet and rather complex brachydactyly. Unlike other rare genetic disorders, Du Pan syndrome doesn't affect traits like intellect or the appearance of the head and trunk To this day, 18 cases have been reported in medical literature. This disorder is associated with mutations in the CDCP1 gene, in chromosome 20q11.2. The mode of inheritance varies family from family, but it is most commonly inherited in an autosomal recessive manner, rare cases have families where the mode of inheritance is autosomal dominant.
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.
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare genetic disorder which is characterized by osseous anomalies resulting in short stature and other afflictions.
Czech dysplasia metatarsal type is a rare type of Czech dysplasia which is characterized primarily by bone anomalies.
Hypomyelination-congenital cataract syndrome is a rare autosomal recessive hereditary disorder that affects the brain's white matter and is characterized by congenital cataract, psychomotor development delays, and moderate intellectual disabilities. It is a type of leukoencephalopathy.
Mandibulofacial dysostosis with microcephaly syndrome, also known as growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome, mandibulofacial dysostosis, guion-almeida type, or simply as MFDM syndrome is a rare genetic disorder which is characterized by developmental delays, intellectual disabilities, and craniofacial dysmorphisms.
Heart-hand syndrome, Slovenian type is a rare autosomal dominant genetic disorder belonging to the heart-hand syndromes.
References
- ↑ "KEGG DISEASE: Angel shaped phalangoepiphyseal dysplasia". www.genome.jp. Retrieved 2022-06-04.
- ↑ "Angel shaped phalangoepiphyseal dysplasia - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-04.
- ↑ "OMIM Entry - 105835 - ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA; ASPED". omim.org. Retrieved 2022-06-04.
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Angel shaped phalango epiphyseal dysplasia". www.orpha.net. Retrieved 2022-06-04.
- ↑ Bissonnette, Bruno; Luginbuehl, Igor; Marciniak, Bruno; Dalens, Bernard J. (2006), "Angel-Shaped Phalangoepiphyseal Dysplasia (ASPED)", Syndromes: Rapid Recognition and Perioperative Implications, New York, NY: The McGraw-Hill Companies, retrieved 2022-06-04
- ↑ "Early-onset osteoarthritis in association with familial angel-shaped phalango-epiphyseal dysplasia previously referred to as peripheral dysostosis". rheumatology.medicinematters.com. 2019-03-01. Retrieved 2022-06-04.
- ↑ Holder-Espinasse, M.; Escande, F.; Mayrargue, E.; Dieux-Coeslier, A.; Fron, D.; Doual-Bisser, A.; Boute-Benejean, O.; Robert, Y.; Porchet, N.; Manouvrier-Hanu, S. (2004-06-01). "Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations". Journal of Medical Genetics. 41 (6): e78. doi:10.1136/jmg.2003.013904. ISSN 0022-2593. PMC 1735815 . PMID 15173244.
- ↑ Giedion, A.; Prader, A.; Fliegel, C.; Krasikov, N.; Langer, L.; Poznanski, A. (1993-10-01). "Angel-shaped phalango-epiphyseal dysplasia (ASPED): identification of a new genetic bone marker". American Journal of Medical Genetics. 47 (5): 765–771. doi:10.1002/ajmg.1320470534. ISSN 0148-7299. PMID 8267010.