Childhood Syndromes and Disorders

Articles about Childhood Syndromes and Disorders

• Syndromes & Disorders

  

  Noonan syndrome

  A genetic disorder that presents with unusual facial characteristics and short stature. Health conditions associated with this disorder include eczema, developmental delay, short stature, webbed neck, pulmonic stenosis, and unique facial features. It is an inherited genetic condition, and just one copy of the mutated gene in each cell is enough to cause the disorder. Syndrome Synonyms Female Pseudo-turner Syndrome, Male Turner Syndrome, Noonan Syndrome, Turner Phenotype With Normal Karyotype

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• Syndromes & Disorders

  

  Noonan syndrome-like Disorder with Loose Anagen Hair (NSLH)

  This rare disease was first identified in 2003. Individuals with Noonan Syndrome-Like Disorder with Loose Anagen Hair display some of the unique facial features of Noonan syndrome, combined with the sparse hair of Anagen syndrome. These unique facial features include a large head (macrocephaly) and wide-set eyes among others. This syndrome is also known as: Mazzanti syndrome NSLH Tosti Syndrome

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• Syndromes & Disorders

  

  Oculodentodigital Dysplasia

  It is a rare genetic syndrome that mainly affects the eyes, teeth and fingers of the body. This syndrome is also known as: Meyer-Schwickerath syndrome Oculo-dento-osseous syndrome Oculodentoosseous Dysplasia; Odod Oculodentoosseoussyndrome Odd Syndrome ODO

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• Syndromes & Disorders

  

  Odontoonychodermal Dysplasia

  It is a rare genetic syndrome that mainly affects the skin and hair of affected individuals. This syndrome is also known as: OODD; Tricho-odonto-onycho-dermal dysplasia Changes in the WNT10A gene are responsible for causing the syndrome. It is inherited in an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

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• Syndromes & Disorders

  

  Ohdo syndrome, SBBYS Variant (SBBYSS)

  This is a rare disease is a genetic condition that affects multiple parts of the body. Severe intellectual disability is a major syndrome. To date, there are 19 recorded cases of the syndrome worldwide and it is thought to occur in more than 1 in 1 million live births worldwide. Syndrome Synonyms: Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth Ohdo Blepharophimosis Syndrome Say-barber-biesecker-young-simpson Syndrome Young-simpson Syndrome; Yss

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• Syndromes & Disorders

  

  Omodysplasia

  It is a rare genetic syndrome defined by its unique facial features and severely shortened limbs. It is a skeletal dysplasia disorder. There are just 40 cases of the syndrome reported worldwide. Syndrome Synonyms: Micromelic Dysplasia, Congenital, With Dislocation Of Radius Omodysplasia – autosomal recessive Omodysplasia, Autosomal Recessive Omodysplasia, Generalized Form

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• Syndromes & Disorders

  

  Opitz GBBB syndrome

  Opitz GBBB syndrome is a rare genetic condition that mainly affects males. Females are carriers for this X-linked disorder but rarely show any symptoms. The syndrome presents with symptoms that may vary considerably between individuals in their presence and severity. The defining features of this rare disease include, widely spaced eyes, and issues affecting the voice box, windpipe and esophagus. This syndrome is also known as: BBB syndrome Hypertelorism With Esophageal Abnormality And Hypospadias Hypertelorism-hypospadias Syndrome Oculo-genito-laryngeal syndrome Opitz Bbbg Syndrome, Type I; Bbbg1 Opitz Gbbb Syndrome, X-linked Opitz Syndrome, X-linked; Osx Opitz Syndrome; Os Opitz-Frias syndrome Opitz-g Syndrome, Type I; Ogs1 Telecanthus-hypospadias Syndrome

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• Syndromes & Disorders

  

  Opitz-Kaveggia syndrome

  Also known as FG syndrome it is a rare genetic condition that presents mainly in males. Its symptoms affect multiple parts of the body. The syndrome mainly affects intelligence and behavior. The syndrome has been reported in several hundred families worldwide but it is generally believed to be largely underdiagnosed as a syndrome, mainly because it shares common symptoms with other conditions and disorders. The syndrome is more common in males, due to the way in which it is inherited. This syndrome is also known as: Bbb Syndrome Chromosome 22q11.2 Deletion Syndrome, Opitz Phenotype G Syndrome Gbbb Syndrome Hypertelorism With Esophageal Abnormality And Hypospadias Hypertelorism-hypospadias Syndrome Hypospadias-dysphagia Syndrome Oculo-genito-laryngeal syndrome Opitz Bbbg Syndrome Opitz Gbbb Syndrome, Autosomal Dominant Opitz Oculogenitolaryngeal Syndrome, Type Ii Opitz-frias Syndrome Opitz-g Syndrome, Type Ii; Ogs2 Telecanthus With Associated Abnormalities Telecanthus-hypospadias Syndrome

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• Syndromes & Disorders

  

  Opsismodysplasia

  It is a rare genetic syndrome that affects mainly the skeletal system of the body. It is usually diagnosed at birth by its unique and distinct facial features. The syndrome is caused by changes in the INPPL1 gene. It is inherited in an autosomal recessive pattern.

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