In-depth insights into various childhood syndromes and disorders.
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A rare genetic syndrome and development disorder also known as Anophthalmia Waardenburg syndrome. The syndrome affects the development of the hands, feet and eyes. This syndrome is also known as: Anophthalmia-syndactyly Ophthalmo-acromelic syndrome Ophthalmoacromelic Syndrome; Oas Waardenburg Anophthalmia Syndrome
It is a rare genetic syndrome also known as Marashi-Gorlin or OFCD syndrome. The syndrome presents with multiple congenital abnormalities that affect the face, dental and heart. It also includes eye abnormalities. This syndrome is also known as: Anop2, Formerly Maa2, Formerly Microphthalmia, Cataracts, Radiculomegaly, And Septal Heart Defects Oculo-Facio-Cardio-Dental (OFCD) syndrome Oculofaciocardiodental Syndrome OFCD Ofcd Syndrome Wilkie (1993) – cataract; microphthalmia; septal defects
It is a rare genetic syndrome. The main condition of the syndrome is lissencephaly, abnormal brain development that leads to the development of a brain without the normal folds and grooves. Instead the brain is smooth. This in turn causes many of the main symptoms of the syndrome. The severity of the syndrome depends on how smooth the brain is. This syndrome is also known as: Lissencephaly – type I Lissencephaly syndrome MDLS Mds Myotonia – cold induced Myotoniacoldinduced Periodic paralysis – paramyotonia congenita Periodicparalysisparamyotoniacongenita Potassium-aggrevated myotonia Potassiumaggrevatedmyotonia Sodium channel myotonia Sodiumchannelmyotonia
It is a syndrome caused by the lack of a protein complex known as complex I. It is a mitochrondiral cell structure responsible for a process that enables many of the cells in the body to generate energy. Symptoms of the syndrome affect mainly the nervous system, skeletal muscles and the heart. It occurs in around 1 in 8500 people. Mitochondrial complex I deficiency is the most common mitochondrial disease. This syndrome is also known as: Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of NADH dehydrogenase deficiency (partial) Nadh-coenzyme Q Reductase Deficiency NADH-CoQ reductase deficiency Nadh:q(1) Oxidoreductase Deficiency
Moebius Syndrome is a rare neurological condition which presents with the lack of, or severe underdevelopment of the 6th and 7th cranial nerves. As a congenital condition it is most commonly diagnosed at birth. This underdevelopment in turn causes congenital facial palsy and abnormal ocular or eye movements. Affected individuals have less control over their facial expressions and eye movements. Syndrome Synonyms: Facial diplegia – congenital Mobius Syndrome; Mbs Moebius Sequence Moebius syndrome (congenital facial diplegia)
Mowat-Wilson syndrome is a genetic disorder that often presents with Hirschsprung disease, which is an intestinal disorder. Intellectual disability, delayed mental and motor development, as well as a wide variety of neurocristopathies (abnormalities of cells derived from the embryonic cellular structure known as neural crest) are frequently found in this syndrome. Syndrome Synonyms: HIRSCHSPRUNG DISEASE-MENTAL RETARDATION SYNDROME Mowat-Wilson Mowat-Wilson Syndrome
It is a group of metabolic diseases, also known as lysosomal storage diseases, all of which are inherited. There are four main types of Mucolipidosis diseases. They affect the body’s renewal of material within cells. This in turn leads to a build up of higher than normal levels of carbohydrates and lipids (fatty materials) in the cells. This then creates damage to the cells and triggers the symptoms related to mucolipidosis syndromes. In some affected individuals the symptoms are present at birth, in early childhood or eventually during adolescence. The main symptoms, including intellectual disability, are progrssive and may worsen with time. Syndrome Synonyms: Ml Iv; Ml4 ML4 MLIV Sialolipidosis
Mucolipidosis II syndrome is a rare genetic condition that affects multiple parts and systems of the body. It is also known as I-cell disease, and as a lysosomal storage disorder. It is a progressive disorder meaning symptoms worsen with time. Syndrome Synonyms: I-cell Disease; Icd ICD Ml Ii Alpha/beta ML2 MLII Mucolipidosis Ii; Ml Ii Mucolipidosis type – II Mucolipidosis type II
Mucolipidosis Type IV is a rare genetic condition first identified in 1974. Between then and 2010 only around 70 cases have been diagnosed. 70% of the cases of the syndrome are in individuals of Ashkenazi Jewish ancestry. This lysosomal storage syndrome is metabolic and progressive. Characteristic features of the syndrome include delayed psychomotor development and visual impairment. Syndrome Synonyms: Ml Iv; Ml4 ML4 MLIV Sialolipidosis