In-depth insights into various childhood syndromes and disorders.
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Microphthalmia is a rare genetic syndrome and developmental 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 Changes in the SMOC1 gene are responsible for causing the syndrome. The syndrome is inherited […]
Microphthalmia 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 […]
Miller-Dieker Lissencephaly 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 […]
Mitochondrial Complex I Deficiency is a syndrome caused by the lack of a protein complex known as complex I. It is a mitochondrial 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. […]
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 […]
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:Microcephaly, Mental Retardation […]
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 […]
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; ML II Alpha/Beta; ML2; MLII; Mucolipidosis II; Ml 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 […]