In-depth insights into various childhood syndromes and disorders.
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Microcephalic Osteodysplastic Primordial Dwarfism 1 is a rare genetic syndrome defined by specific features. These include restricted growth, a very small head, abnormal bone development and growth, unique facial features, and brain abnormalities. Life expectancy with the syndrome is low, with most affected individuals not surviving their first year of life. This syndrome is also […]
Microcephalic Osteodysplastic Primordial Dwarfism 2 is a rare genetic syndrome. Dwarfism, an exceptionally short stature, skeletal abnormalities, and a small head characterize the syndrome. These symptoms begin before birth. This syndrome is also known as:Microcephalic osteodysplastic primordial dwarfism type II; MOPD II; Osteodysplastic Primordial Dwarfism, Type II Changes in the PCNT gene are responsible for […]
Also often referred to as MPCH it is a group of rare genetic syndromes that presents with a very small head and a very small brain. There are around 200 families currently recorded as diagnosed with the syndrome. Microcephaly, Primary, Autosomal Recessive syndrome has a much higher prevalence in some regions of the world, specifically […]
Microcephaly, short stature, and limb abnormalities syndrome is a rare disease which presents with intrauterine growth retardation (this affects the growth of the fetus before it is born), a small head, short stature, and abnormalities affecting the limbs in particular. The syndrome is caused by changes in the DONSON gene, which can be found on […]
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 […]