Childhood Syndromes and Disorders

Articles about Childhood Syndromes and Disorders

• Syndromes & Disorders

  

  Mandibuloacral Dysplasia with Lipodystrophy

  This syndrome is considered to be a very rare disease. Some of its main symptoms include an underdeveloped lower jaw and collarbone. Partial lipodystrophy, when there is a loss of body fat from different parts of the body is also characteristic of the syndrome. This may also cause the presence of symptoms associated with metabolic syndromes. The syndrome has two types, diagnosed by the gene mutation that causes each one. Syndrome Synonyms: Craniomandibular dermatodysostosis; MAD

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• Syndromes & Disorders

  

  Mandibulofacial Dysostosis, Guion-Almeida Type (MFDGA)

  This rare disease is a genetic syndrome that may also be referred to as Mandibulofacial Dysostosis with microcephaly. It primarily affects the head and face. Speech and language delays and intellectual disability are common features of the condition. There are just 60 cases of the syndrome reported worldwide to date. This syndrome is also known as: Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate Mandibulofacial dysostosis – microcephaly Mandibulofacial Dysostosis With Microcephaly; Mfdm Mandibulofacialdysostosismicrocephaly Mandibulofacialdysostosiswithmicrocephaly MFD with microcephaly MFDwithmicrocephaly

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• Syndromes & Disorders

  

  Manitoba Oculotrichoanal syndrome (MOTA)

  This rare disease is a multiple congenital anomalies syndrome. The most common anomalies relate to the nose, eyes, gastrointestinal and genitourinary. Syndromes vary between affected individuals but generally relate to the eyes, hair and anus. The syndrome has been mainly diagnosed in the residents of a very isolated community in northern Manitoba, Canada. There are a few cases that have been diagnosed outside of this remote community. This syndrome is also known as: Manitoba oculo-tricho-anal syndrome Marles Syndrome MOTA syndrome Oculo-tricho-anal syndrome Oculotrichoanal syndrome

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• Syndromes & Disorders

  

  Mannosidosis, Alpha B, Lysosomal (MANSA)

  It is a rare genetic disorder that affects multiple organs and systems of the body. Common symptoms include skeletal abnormalities, characteristic facial features and intellectual disability. Symptoms vary in their severity from mild to more severe. The early-onset form of the syndrome means infants generally do not survive past childhood. Those with a more mild form of the syndrome generally present with symptoms later, and they progress more slowly. Individuals with the less severe form of the syndrome tend also to have a higher life expectancy. The condition occurs in 1 in every 500,000 live births globally. This syndrome is also known as: Alpha-mannosidase B Deficiency Alpha-mannosidosis Lysosomal Alpha-d-mannosidase Deficiency

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• Syndromes & Disorders

  

  Marden-Walker syndrome (MWKS)

  This rare genetic disease presents with psychomotor retardation. One of the defining features of the syndrome is a mask-like face. This rare connective disorder is present at birth, and affects males more than females. This syndrome is also known as:

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• Syndromes & Disorders

  

  Marfan syndrome (MFS)

  Marfan syndrome is a genetic disorder that affects mainly the connective tissue in the body. Connective tissue can be found throughout the body, meaning the syndrome can affect many different parts of the body too. Symptoms may vary between sufferers of the syndrome but involve mainly three systems: skeletal, ocular and cardiovascular. The syndrome is congenital but not all symptoms and features may be obvious at birth. Some become more apparent in childhood or, even in some cases, in adulthood. Marfan syndrome occurs in around 1 in every 5,000 people. Syndrome Synonyms: Marfan Syndrome, Type I; Mfs1 MFS

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• Syndromes & Disorders

  

  Marshall syndrome (MRSHS)

  Marshall syndrome is a rare genetic syndrome that presents with unique facial features, eye anomalies, cataracts and hearing loss. Males and females are affected by the syndrome in equal numbers.

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• Syndromes & Disorders

  

  Marshall-Smith Syndrome (MRSHSS)

  This rare disease affects multiple parts of the body. The main symptoms of the syndrome are advanced bone age, a failure to thrive (a difficulty in gaining weight), characteristic facial features and intellectual disability.

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• Syndromes & Disorders

  

  Megalencephaly-Capillary Malformation-Polymicrogyria syndrome (MCAP)

  Megalencephaly-Capillary Malformation syndrome is a multiple malformation disorder. Its severity varies between individuals. First identified in 1997 as a distinct disorder there are just 140 reported cases since then, but there may be an under diagnosis contributing to this figure. This rare developmental condition mainly involves tissue overgrowth in different parts of the body. A large brain (megalocephaly) is one of the main characteristics of the syndrome. Syndrome Synonyms: M-CM Macrocephaly – capillary malformation Macrocephaly-capillary Malformation; Mcm Macrocephaly-cutis Marmorata Telangiectatica Congenita; Mcmtc MCAP MCTC Megalencephaly – capillary malformation Megalencephaly-capillary Malformation Syndrome Megalencephaly-cutis Marmorata Telangiectatica Congenita Overgrowth – polysyndactyly – haemangiomas Overgrowth-polysyndactyly-haemangiomas

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