In-depth insights into various childhood syndromes and disorders.
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It is a syndrome characterized by intellectual disability and developmental delay. This syndrome is also known as: Cabezas Syndrome Mental Retardation, X-linked, Syndromic 15; Mrxs15 Mental Retardation, X-linked, With Short Stature, Hypogonadism, And Abnormal Gait Mental Retardation, X-linked, With Short Stature; Mrss
It is a rare genetic syndrome that presents with intellectual disability, significant speech impairment and unique facial features. It affects males and females differently due to the way in which it is inherited. Females generally do not experience intellectual disability but may have slight facial features characteristic of the syndrome. This syndrome is also known as: Mental Retardation, X-linked, Syndromic 30; Mrxs30 Nascimento syndrome
It is a rare genetic syndrome that affects only males. It presents mainly with intellectual disability. X-linked mental retardation occurs in around 1 in every 5-6,000 males. However the Siderius type is much rarer and its exact prevalence is currently unknown. It is believed to affect less than a handful of individuals. This syndrome is also known as: Chromosome Xp11.22 – microdeletion Mental Retardation, X-linked, Syndromic, Siderius Type Siderius X-linked mental retardation syndrome Siderius-hamel Syndrome
It is a rare genetic syndrome marked by intellectual disability and developmental delay. The symptoms progress from mild developmental delay to more severe intellectual disability. The syndrome also leads to muscle and bone anomalies. The syndrome affects males only and currently affects only around 10 families worldwide. This syndrome is also known as: Snyder-robinson Mental Retardation Syndrome; Srs Snyder-Robinson syndrome Spermine Synthase Deficiency
This rare disease is a genetic syndrome. Symptoms of the syndrome usually affect multiple parts of the body. These symptoms are known to vary between individuals. One of the defining symptoms of the syndrome is pancreatic insufficiency, an abnormality with the pancreas triggers an inability from the intestine to absorb fats and other important nutrients that affect the development of the body. This syndrome is also known as: JBS Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, And Congenital Deafness
This rare disease is a genetic syndrome that presents with conductive hearing loss, alopecia and microtia which involves the auditory canal of the ear. There are, to date, less than 30 cases recorded worldwide making it extremely rare. This syndrome is also known as: Aadh Syndrome Alopecia-anosmia-deafness-hypogonadism Syndrome Johnson-mcmillin Syndrome; Jms
Joubert syndrome is a rare disease that affects multiple parts of the body. The symptoms and features of the syndrome vary widely between individuals, and may even differ between affected individuals in the same family. It is a genetic syndrome that affects brain development primarily. But it also affects multiple parts of the brain. The two main brain abnormalities associated with the syndrome are, an absent or underdeveloped cerebellar vermis (the part of the brain that controls balance and coordination), and a malformed brain stem (this is what connects the brain and the spinal cord).
Kabuki syndrome is a rare genetic disorder and occurs in just 1 in 32,000 births. The condition affects males and females equally. It is characterized by specific facial features, including arched eyebrows and wide-set eyes. Health conditions associated with Kabuki syndrome may include short stature, immunological abnormalities, and elongated eyes, similar to those painted on the Japanese Kabuki theatre actors – hence the name. In medical terms, this eye form is called palpebral fissures with eversion of the lateral third of the lower eyelid. Up to half of the patients may present with congenital heart defects. Mid-moderate intellectual disability and developmental delay are also a feature of the syndrome. Syndrome Synonyms: Kabuki make-up syndrome, Kabuki syndrome, 1 KMS, Niikawa-Kuroki syndrome
This rare disease is a genetic condition that presents with severe intellectual disability and unique facial features. As a multi system syndrome it affects multiple parts of the body including the heart, stomach and nervous system. This syndrome is also known as: Blepharophimosis-ptosis-intellectual Disability Syndrome; Bpids Oculo-cerebro-facial syndrome