In-depth insights into various childhood syndromes and disorders.
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Myhre syndrome is a rare disease and is incredibly rare, with fewer than 100 recorded cases worldwide to date. Although it is believed many cases go undiagnosed and that the number of recognized cases continues to increase due to improved awareness and testing. The main features of the syndrome include unique facial features and intellectual […]
Myopathy, Congenital Non-Progressive, with Moebius Sequence and Robin Sequence, is a rare syndrome, also known as Carey Fineman Ziter syndrome, this rare genetic syndrome presents with low muscle tone as well as the Moebius sequence of symptoms, Pierre-Robin sequence, distinct facial features, and growth delay. Mutations in the MYMK and MYMX genes are responsible for […]
It is a rare inherited disorder belonging to a group of disorders known as muscular dystrophies. Myoptic Dystrophy is the most common form of muscular dystrophy and it usually starts in adulthood. Features of the syndrome include muscle wasting and weakness as well as myotonia (prolonged muscle contractions) which makes it difficult for affected individuals […]
Nablus mask-like Facial Syndrome is a rare genetic syndrome, also known as a microdeletion syndrome. A mask-like facial appearance is a defining feature of the syndrome. The syndrome also presents with other unique facial features. This syndrome is also known as:Chromosome 8q22.1 Deletion Syndrome; NMLFS The syndrome is caused by a deletion on chromosome 8, […]
Nasopalpebral lipoma-coloboma is a rare genetic syndrome that affects mainly the eyes specifically with lipomas (benign tissue of fat) and colobomas (holes in any part of the eye- iris, retina, choroid, optic disc). This syndrome is also known as:Palpebral Coloboma-Lipoma Syndrome Mutations in the ZDBF2 gene are possibly responsible for causing the syndrome., however, is […]
Neurodevelopmental Disorder with Brain Abnormalities, Poor Growth and Dysmorphic Facies (NEDBGF) (MRT36) is a rare genetic syndrome that presents with intellectual disability and esotropia (which causes both eyes to turn inward). Because Mental retardation is now generally referred to as intellectual disability (intellectual developmental disorder), formerly named Mental Retardation, Autosomal Recessive 36 (MRT36), is no […]
Neurodevelopmental Disorder with Neonatal Respiratory Insufficiency, Hypotonia, and Feeding Difficulties is a rare neurodevelopmental condition. The main symptoms include intellectual disability, a severe developmental delay that can present as early as infancy, and seizures. Symptoms usually present in affected individuals in infancy. Formerly known as: Mental Retardation, Autosomal Dominant 31, Formerly, MRD31 Mutations in the […]
Formerly known as Mental Retardation, Autosomal Dominant 19 syndrome, this rare disease is a neurodevelopmental condition, the main symptoms of which include intellectual disability, symptoms related to spasticity and eye and visual issues. Mutations in the CTNNB1 cause the syndrome. It is inherited in an autosomal dominant pattern. In the case of autosomal dominant inheritance just […]
Neurofibromatosis, Type 1 is a genetic condition that affects male and females equally. Symptoms can vary widely between individuals diagnosed with the syndrome. The syndrome is characterized by skin and pigmentation abnormalities and fibromatous tumors of the skin. Syndrome Synonyms: Neurofibromatosis, Peripheral Type NF1; Peripheral neurofibromatosis; Von Recklinghausen Disease A damaged NF1 gene is responsible […]