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Multiple Abnormalities |11037|
Multiple Abnormalities Subsets
Congenital Multiple Anomaly/Mental Retardation Syndromes
Dermal Dysplasia
Multiple Pterygium Syndrome
Branchial Arch Defects
Short-Rib Thoracic Dysplasia
Mesomelia Syndromes
Waardenburg Syndrome
Basal Cell Nevus Syndrome
Cockayne Syndrome
Satoyoshi Syndrome
Cardiomyopathic lentiginosis
Edinburgh Malformation Syndrome
Desmoid Disease
Velofacioskeletal Syndrome
Bowen Syndrome
Isolated Noncompaction of the Ventricular Myocardium
CAMFAK Syndrome
Schroer Hammer Mauldin Syndrome
HM Syndrome
Pfeiffer Mayer Syndrome
Limb Transversal Defect Cardiac Anomaly
Tollner Horst Manzke Syndrome
Siegler Brewer Carey Syndrome
Growth Mental Deficiency Syndrome of Myhre
Mobius Syndrome
7-dehydrocholesterol reductase deficiency
Jancar Syndrome
Cryptophthalmos-Syndactyly Syndrome
Craniodigital Syndrome Mental Retardation
See Also ↔
 
 
“Multiple System Abnormalities (Multisystemic Abnormalities)”  
[11068]
“Incontinentia Pigmenti (Bloch-Sulzberger Syndrome)”  

Hypomelanosis of Ito

  In our body, the genodermatosis pigmentation dis-order, Incontinentia Pigmenti (Hypomelanosis of Ito) is a phakomatosis genetic skin dis-order indicative to a specific set of signs, symptoms or other health indicators, associated with a skin abnormality manifesting usually as a multiple system abnormality.

Incontinentia Pigmenti

  In our body, the Incontinentia Pigmenti occurring mostly in females and characterized by skin changes in three phases; the vesiculobullous, verrucous papillomatous, and macular melanodermic, associated as a neuro-cutaneous health challenge. **
[14771]
“Isolated Noncompaction of the Ventricular Myocardium”  

Isolated Non-compaction of the Ventricular Myocardium

  In our body's heart, the congenital heart defect, Isolated Noncompaction of the Ventricular Myocardium is a rare cardiomyopathy heart dis-order, characterized by the lack of left ventricular myocardium compaction and other multiple system abnormalities. **
[21636]
“Carney Complex (Carney Syndrome)”  

Carney Syndrome

  In and on our body's integumentary system, the multiple system abnormality inherited in an autosomal dominant fashion, Carney Syndrome, aka NAME Syndrome is a myxoma indicative to a specific set of signs, symptoms or other health indicators, associated with as a skin abnormality common blue naevus with further abnormalities of the skin and other organs (i.e. heart neoplasm). **
[21525]
“Gardner's Syndrome (Familial Colorectal Polyposis)”  

Gardner's Syndrome

  In our body, Gardner's syndrome (Familial Colorectal Polyposis) is an autosomal dominant variant of a adenomatous polyposis coli, characterized by the presence of multiple polyps in the colon together with tumors outside the colon caused by mutation in the APC gene. **
[20583]
“Alagille Syndrome (Alagille-Watson Syndrome)”  

Alagille-Watson Syndrome

  In our body, the congenital multiple system abnormality, Alagille-Watson Syndrome (Alagille Syndrome) is an autosomal dominant dis-order with a variable phenotype characterized by hepatic, eye, cardiac, and skeletal malformations and a characteristic facial appearance associated with a chromosome 20 health challenge with mutations within the JAG1 gene. **
[18983]
“Loeys-Dietz Syndrome (Loeys-Dietz Aortic Aneurysm Syndrome)”  

Loeys-Dietz Aortic Aneurysm Syndrome

  In our body, the craniofacial abnormality, Loeys-Dietz Syndrome (Loeys-Dietz Aortic Aneurysm Syndrome) is an autosomal dominant multiple system abnormality characterized by a triad of arterial tortuosity and aneurysm (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), hypertelorism, and bifid uvula or cleft palate along with skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus). **
[16436]
“Mobius Syndrome”  
  In our body, the congenital dis-order, Mobius syndrome is a facial nerve dis-order of congenital facial paralysis indicative to a specific set of signs, symptoms or other health indicators, associated with a multiple system abnormalities, frequently associated with abducens palsy and other abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. **
[15463]
“Leprechaunism (Donohue Syndrome)”  

Leprechaunism

  In our body, the inborn genetic dis-order, Leprechaunism (also known as Donohue syndrome) is a congenital form of an extreme insulin resistance syndrome and low birth weight dwarfism indicative to a specific set of signs, symptoms or other health indicators, characterized by intrauterine and mainly postnatal severe growth retardation.
  In our body, Donohue syndrome (Leprechaunism) is a multiple system abnormality, associated with a characteristic dysmorphic facies (craniofacial anomalies), atrophic subcutaneous adipose tissue (lipoatrophy), muscular hypotrophy, and hyperinsulinemia due to an extreme resistance to insulin.
  In our body, Leprechaunism (Donohue syndrome) is the allopathic name, indicative to a specific set of signs, symptoms or other health indicators, associated with homozygous or compound heterozygous mutations in the insulin receptor gene INSR gene (CD220 gene). **
[14841]
“Cryptophthalmos-Syndactyly Syndrome (Fraser Syndrome)”  

Cryptophthalmos-Syndactyly Syndrome

  In our body, the rare congenital dis-order, Cryptophthalmos-Syndactyly Syndrome is an anomaly indicative to a specific set of signs, symptoms or other health indicators, associated with ocular including cryptophthalmos, otic, digital, laryngeal, and renal abnormalities.

Fraser Syndrome

  In our body, the recessive dis-order, Fraser Syndrome is multiple system abnormality, characterized by cryptophthalmos, cutaneous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation, and musculoskeletal anomalies. **
[12788]
“Bardet-Biedl Syndrome”  
  In our body, Bardet-Biedl Syndrome is an autosomal recessive disorder, characterized by retinitis pigmentosa, polydactyly, central obesity, mental retardation, hypogenitalism, renal dysplasia (renal dysfunction), and short stature. This syndrome has been distinguished as a separate entity from Laurence-Moon syndrome.
  In our body, as a ciliopathic dis-order, Bardet-Biedl syndrome is a multiple system abnormality indicative to a specific set of signs, symptoms or other health indicators, also characterized by rod-cone dystrophy, and mental retardation with postaxial polydactyly.
  Examples of Bardet-Biedl Syndrome include: **
[14430]
“Trichothiodystrophies”  

Trichothiodystrophy

  In our body, the multisystem dis-order, Trichothiodystrophy is a skin abnormality, characterized by premature aging (progeria), indicative to a specific set of signs, symptoms or other health indicators, associated with brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern (tiger tail banding) under polarizing microscopy.
  In our body, Trichothiodystrophy may be classified as trichothiodystrophy with sun sensitivities and nonphotosensitive trichothiodystrophies. **
[13580]
“Prader-Willi Syndrome”  
  In our body, the multiple system abnormality, Prader-Willi Syndrome is a congenital multisystem genetic imprint dis-order indicative to a specific set of signs, symptoms or other health indicators, characterized by infantile hypotonicity, hyperphagia with obesity developing after the neonatal period, hypogonadism, mental retardation, and short stature with small hands and feet, due to the loss of expression of several genes (uniparental disomy (UPD15)) encoded on the proximal long arm of chromosome 15 (15q11.2-q13). **
[13494]
“Holoprosencephaly (Arhinencephaly)”  

Holoprosencephaly (HPE)

  In our body's brain, the craniofacial abnormality, the Holoprosencephaly, once called Arhinencephaly, is a cephalic dis-order involving a structural anomaly of the brain, in which a failed or incomplete separation of the forebrain occurs early during gestation.
  In our body, Holoprosencephaly is a multiple system abnormality consists of a spectrum of defects or nervous system malformations of the brain and face, indicative to a specific set of signs, symptoms or other health indicators, associated with a health challenge.
  In our body, there are at least three classifications of holoprosencephalic disorders (holoprosencephaly) defined by the severity of brain malformation: **
[13397]
“Deaf-Blind Disorders”  

Deaf Blind Disorders

  In our body, as a multiple system abnormality, Deaf-Blind Disorder is indicative to a specific set of signs, symptoms or other health indicators, associated with both a hearing loss of a deafness dis-order and a a partial or total loss of vision of a blindness dis-order. **
[12870]
“Branchio-Oto-Renal Syndrome (BOR Syndrome)”  

Branchiootorenal Syndrome

  In our body, the genetic multiple system abnormality, Branchio-Oto-Renal syndrome (BOR syndrome) is a chromosomal dis-order, indicative to a specific set of signs, symptoms or other health indicators, which disrupts the development of tissues in the neck and causes malformations of the ears and kidneys, associated with mutations in three genes, EYA1 gene, SIX1 gene, and SIX5 gene.

BOR Syndrome

  In our body, BOR Syndrome is characterized by preauricular fistulas, structural malformations of the external, middle, and inner ears, branchial fistulas, renal disorders, cleft palate, and variable type and degree of hearing loss. **
[14753]
“Congenital Rubella Syndrome”  
  In and from our mother's body, the fetal infectious togaviridae dis-ease, Congenital Rubella Syndrome is a transplacental infection of the fetus with rubella virus (german measles virus), indicative to a specific set of signs, symptoms or other health indicators, resulting in various developmental abnormalities in the newborn infant, which include cardiac and ocular lesions, deafness, microcephaly, mental retardation, and generalized growth retardation. **
[14588]
“Barth Syndrome (Lethal Infantile Cardiomyopathy)”  

Barth Syndrome

  In our body, the multiple system abnormality, Barth Syndrome (Lethal Infantile Cardiomyopathy), aka Cardiomyopathy-Neutropenia Syndrome, is a mitochondrial dis-ease indicative to a specific set of signs, symptoms or other health indicators, associated with a lipid metabolism dis-order as a recessive x-linked genetic abnormality, marked by elevated levels of 3-methylglutaconic acid in the blood and urine.
  In our body, the symptoms of Barth Syndrome (Lethal Infantile Cardiomyopathy) include skeletal myopathy, cardiomyopathy, short stature, and neutropenia. **
[21238]
References & Citations:
1. Richman TR. et al "Mitochondria: Unusual features of the mammalian mitoribosome"   Int. J. Biochem. Cell Biol. 2014 Aug;53115-120  
2. Gattuso J. et al "The clinical spectrum of the Fraser syndrome: report of three new cases and review"   J Med Genet. 1987 Sep;24(9):549-55  
3. Slavotinek AM. et al "Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes"   J Med Genet. 2002 Sep;39(9):623-33  
4. McGregor L. et al "Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein"   Nat Genet. 2003 Jun;34(2):203-8  
5. Smyth I. et al "The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis"   Proc Natl Acad Sci U S A. 2004 Sep 14;101(37):13560-5  
6. Corsello G. et al "Holoprosencephaly: examples of clinical variability and etiologic heterogeneity"   Am J Med Genet. 1990 Oct;37(2):244-9  
7. Priyanka M. et al "An overview of frenal attachments"   J Indian Soc Periodontol. 2013 Jan;17(1):12-5  
8. Mishra S. et al "Management of Midline Facial Clefts"   J Maxillofac Oral Surg. 2015 Dec;14(4):883-90  
9. Hittner HM. et al "Oculocutaneous albinoidism as a manifestation of reduced neural crest derivatives in the Prader-Willi syndrome"   Am J Ophthalmol. 1982 Sep;94(3):328-37  
10. Buiting K. et al "Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes"   Cytogenet Cell Genet. 1998;81(3-4):247-53  
11. Cavaille J. et al "Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region"   Hum Mol Genet. 2002 Jun 15;11(13):1527-38  
12. Butler MG. "Genomic imprinting disorders in humans: a mini-review"   J Assist Reprod Genet. 2009 Sep-Oct;26(9-10):477-86  
13. Elena G. et al "Prader-willi syndrome: clinical aspects"   J Obes. 2012;2012:473941  
14. Jaspers NG. et al "First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure"   Am J Hum Genet. 2007 Mar;80(3):457-66  
15. Faghri S. et al "Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations"   J Med Genet. 2008 Oct;45(10):609-21  
16. Schachat AP. et al "Bardet-Biedl syndrome and related disorders"   Arch Ophthalmol. 1982 Feb;100(2):285-8  
17. Beales PL. et al "New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey"   J Med Genet. 1999 Jun;36(6):437-46  
18. Hamacher M. et al "Plasmolipin: genomic structure, chromosomal localization, protein expression pattern, and putative association with Bardet-Biedl syndrome"   Mamm Genome. 2001 Dec;12(12):933-7  
19. Moore SJ. et al "Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study"   Am J Med Genet A. 2005 Feb 1;132A(4):352-60  
20. Thiel C. et al "NEK1 mutations cause short-rib polydactyly syndrome type majewski"   Am J Hum Genet. 2011 Jan 7;88(1):106-14  
21. Dallapiccola B. et al "Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome"   J Med Genet. 1995 Oct;32(10):816-8  
22. Abdelhak S. et al "A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family"   Nat Genet. 1997 Feb;15(2):157-64  
23. Ruf RG. et al "SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes"   Natl. Acad. Sci. U.S.A. 2004 May;101(21)8090-8095  
24. Lindau TA. et al "Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review"   Int Arch Otorhinolaryngol. 2014 Jan;18(1):68-76  
25. Landy SJ. et al "Incontinentia pigmenti (Bloch-Sulzberger syndrome)"   J Med Genet. 1993 Jan;30(1):53-9  
26. Freeman LA. et al "CT and MRI assessment of the aortic root and ascending aorta"   AJR Am J Roentgenol. 2013 Jun;200(6):W581-92  
27. Shah B. et al "Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child"   Australas Med J. 2014 Feb 28;7(2):51-7  
28. Li L. et al "Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1"   Nat Genet. 1997 Jul;16(3):243-51  
29. Jones EA. et al "JAGGED1 expression in human embryos: correlation with the Alagille syndrome phenotype"   J Med Genet. 2000 Sep;37(9):658-62  
30. Gardner EJ. et al "Hereditary pattern for multiple osteomas in a family group"   Am J Hum Genet. 1952 Mar;4(1):31-6  
31. Stratakis CA. et al "Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2"   J Clin Invest. 1996 Feb 1;97(3):699-705  
 
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