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“Dysostoses (Skeletal Dysostosis)”

Dysostosis
In our body's skeletal system, the bone abnormalities Dysostoses (Dysostosis) are defective bone formations (osteogenesis) involving malformations of individual bones or groups of bones, either in isolation or in combination with various abnormally formed bones.
While in our mother's body, Dysostoses are usually static and arise during blastogenesis period, which differ from osteochondrodysplasias that usually present at a later development stage. *

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Dysostoses (Skeletal Dysostosis)

Synostosis abnormality (a dysostosis)

Retinal Dysplasia

Orofaciodigital Syndromes (Oro-Facial-Digital Syndromes)

Klippel-Feil Syndrome (Dystrophia Brevicollis Congenita)

Retinitis Pigmentosa

Aniridia (Irideremia)

Gyrate Atrophy

Crouzon Syndrome (Crouzon Craniofacial Dysostosis)

“Synostosis abnormality (a dysostosis)”

Synostosis (a dysostosis)
  In our body, the musculoskeletal abnormality, Synostosis, aka Coalition, as a developmental bone dis-order of a dysostosis, is an osseous union caused by an abnormal fusion between two adjacent bones.
  Histologically, Coalition may be classified as one of the four types: fibrous, cartilaginous, osseous, a combination of all three tissue-types.
  Coalition is also known to be associated with hereditary syndromes, such as Pfeiffer Kapferer Syndrome, Cenani Lenz syndactylyCenaniï¿½Lenz syndactyly, Townes-Brocks syndrome, and Apert's syndrome. **

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“Retinal Dysplasia”

In our body's eyes, the eye abnormality, Retinal Dysplasia is a congenital hereditary eye dis-ease, often a bilateral retinal abnormality, characterized by the arrangement of outer nuclear retinal cells of the retina in a palisading or radiating pattern surrounding a central ocular space. **

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“Orofaciodigital Syndromes (Oro-Facial-Digital Syndromes)”

Oro-Facial-Digital Syndromes
In our body, the inherited craniofacial abnormalities, Orofaciodigital syndromes, aka OFD Syndromes, is a multiple abnormalities with intellectual and skin issue condition which arises as the result of a single gene malformation showing X-linked dominant inheritance, indicative to a specific set of signs, symptoms or other health indicators, associated with oral, facial, and digital malformations (dysostosis, camptodactyly).
In our body, OFD syndrome is associated as a ciliopathic dis-order. **

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“Klippel-Feil Syndrome (Dystrophia Brevicollis Congenita)”

Klippel-Feil Anomaly
In our body, the musculoskeletal abnormality, Klippel-Feil Syndrome is a short neck vertebral congenital disorder, indicative to a specific set of signs, symptoms or other health indicators, characterized by shortness of the neck resulting from reduction in the number of vertebrae or a cervical vertebral fusion of multiple hemivertebrae into one osseous mass.
Examples of conditions that include dystrophia brevicollis congenita:

Klippel Feil Deformity Conductive Deafness absent Vagina
**

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“Retinitis Pigmentosa”

  In our body's eyes, the hereditary eye dis-order, Retinitis Pigmentosa is a retinitis in which the rod cells in the retina gradually lose their ability to respond to the light (retinal dystrophy), associated with a heterogeneous group of inherited retinal degenerations, characterised primarily by rod photoreceptor cell degeneration, caused by mutations in at least 45 genes.
  In our body, Retinitis Pigmentosa can cause nyctalopia (night blindness).
  The retinitis pigmentosa exhibits clinical and genetic heterogeneity that be inherited as:

retinitis pigmentosa autosomal dominant
retinitis pigmentosa autosomal recessive
retinitis pigmentosa X-linked
retinitis pigmentosa digenic disorder
**

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“Aniridia (Irideremia)”

Aniridia
In our body's eyes, the eye abnormality, Aniridia (Irideremia) is an inherited ocular disorde (and an iris dis-order) associated with an anterior segment dysgenesis involving the absence of the colored part of the eye (iris), caused by either a penetrant injury or a congenital eye dis-order (congenital defect) due to a failure of the optic cup growth, which may cause a reduction in the sharpness of vision (visual acuity) and an increased sensitivity to light (photophobia).
In our body's eyes, Aniridia, characterized by iris hypoplasia, may be associated with other health challenges such as in WAGR syndrome, Gillespie syndrome (aniridia cerebellar ataxia mental deficiency), and dysostosis. **

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“Gyrate Atrophy”

In our body, the dysostosis, Gyrate Atrophy is a choroidal dis-ease involving a diffuse atrophy of the choroid, indicative to a specific set of signs, symptoms or other health indicators, associated with an autosomal recessive health challenge of the retina. **

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“Crouzon Syndrome (Crouzon Craniofacial Dysostosis)”

Crouzon Craniofacial Dysostosis (Crouzon's Syndrome)
  In our body, the craniofacial abnormality, Crouzon's Disease (Craniofacial Dysostosis), caused by a fusing of both sides of the coronal suture, is associated with an autosomal dominant craniosynostosic dis-order, characterized by abnormalities in the skull and facial bones including hypertelorism, acrocephaly, exophthalmos, strabismus, parrot-beaked nose, and hypoplastic maxilla with relative mandibular prognathism, often causing the skull to be short in the front and the back, and if severe with a cloverleaf skull.
  In our body, the birth defect, Craniofacial Dysostosis (Crouzon's Diseases) includes; hallermann streiff syndromes, mandibulofacial dysostosis, and goldenhar syndrome (oculoauriculovertebral syndrome).
  In our body, Crouzon's Diseases (Craniofacial Dysostosis) involves mutations in the FGFR2 gene. **

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References & Citations:


1. Kornak U. et al "Genetic disorders of the skeleton: a developmental approach" Am J Hum Genet. 2003 Sep;73(3):447-74
2. Temtamy SA. et al "Brachydactyly" Orphanet J Rare Dis. 2008 Jun 13;3:15
3. Krakow D1. et al "The skeletal dysplasias" Genet Med. 2010 Jun;12(6):327-41
4. Vun SH. et al "Distal metatarsal coalition: A rare case report" Int J Surg Case Rep. 2015;8C:182-4
5. Shashi V. et al "Absent pituitary gland in two brothers with an oral-facial-digital syndrome resembling OFDS II and VI: a new type of OFDS?" Am J Med Genet 1995 May 22;57(1):22-6
6. Priyanka M. et al "An overview of frenal attachments" J Indian Soc Periodontol. 2013 Jan;17(1):12-5
7. Tassabehji M. et al "Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome" Hum Mutat 2008 Aug;29(8):1017-27
8. Chaput B. et al "The "posterior cervical lift": a new approach to pterygium colli management" Plast Reconstr Surg Glob Open. 2013 Oct 7;1(6):e46
9. Kremer H. et al "Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p" Hum Mol Genet. 1994 Feb;3(2):299-302
10. Berson EL. et al "A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa" Arch Ophthalmol. 1993 Jun;111(6):761-72
11. BarragÃ¡n I. et al "Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs" Ann Hum Genet. 2008 Jan;72(Pt 1):26-34
12. Berson EL. et al "Clinical trial of lutein in patients with retinitis pigmentosa receiving vitamin A" Arch Ophthalmol. 2010 Apr;128(4):403-11
13. Langmann T. et al "Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa" Am J Hum Genet. 2010 Sep 10;87(3):376-81
14. Bandah-Rozenfeld D. et al "Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa" Am J Hum Genet. 2010 Sep 10;87(3):382-91
15. Shin JY. et al "Chlorogenic acid supplementation improves multifocal electroretinography in patients with retinitis pigmentosa" J Korean Med Sci. 2014 Jan;29(1):117-21
16. Jordan T. et al "The human PAX6 gene is mutated in two patients with aniridia" Nat Genet 1992 Aug;1(5):328-32
17. Stapleton P. et al "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9" Nat Genet. 1993 Apr;3(4):292-8
18. Kleinjan DA. et al "Characterization of a novel gene adjacent to PAX6, revealing synteny conservation with functional significance" Mamm Genome 2002 Feb;13(2)102-107
19. Tartaglia M. et al "Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders" Hum Genet. 1997 Nov;101(1):47-50

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