Ollier’s disease Also known as: Enchondromatosis Overview Ollier’s disease is a condition where several enchondromas exist in the bone. These may affect a single digit, part of a hand or foot, a...
Developmental Dysplasia of the Hip Also known as: Congenital Dysplasia of the Hip Background Most babies’ hips are entirely normal at birth. Sometimes, however, they do not develop properly. The hip joint is like a...
Batten disease Also known as: Jansky-Bielschowsky disease; Kufs disease; Neuronal Ceroid Lipofuscinosis; Santavuori disease; Santavuori-Haltia disease; Vogt-Spielmeyer disease Background The group of diseases known as Batten disease or the neuronal ceroid lipofuscinoses...
Fragile X syndrome Fragile X syndrome is the most common identifiable cause of inherited intellectual disability and autism spectrum conditions. It arises from changes on the X chromosome in a specific gene that...
Ohtahara syndrome Also known as: Early Infantile Epileptic Encephalopathy Background Ohtahara syndrome is a rare form of childhood epilepsy, which was first described by Ohtahara in 1976. It is one of several...
Marinesco-Sjögren syndrome Also known as: Cataract-oligophrenia; Hereditary Oligophrenic Cerebellolental Degeneration; Marinesco-Garland syndrome; Marinesco-Sjögren-Garland syndrome; Torsten Sjögren Background Marinesco-Sjögren syndrome (MSS) is a rare genetic condition that affects many body systems. Children with the condition...
Isodicentric 15 Also known as: idic (15) Background Isodicentric 15 (idic (15)) is a rare chromosomal disorder (see the chromosome abnormalities section in Patterns of Inheritance). Common features include hypotonia, seizures and...
Norrie disease Background Norrie disease is a congenital (present from birth) genetically inherited eye condition that typically leads to blindness at birth or severe sight impairment. It is an X-linked recessive condition...
Familial Dysautonomia Also known as: HSAN Type III; Riley-Day syndrome Background Familial dysautonomia (FD) is a genetic condition that affects the development and survival of certain nerve cells. It affects the nerves...
Cohen syndrome Also known as: Norio syndrome; Obesity-hypotonia syndrome; Pepper syndrome Background Cohen syndrome is a rare genetic condition characterised by moderate-to-severe learning difficulties (see entry Learning Disability), a typical facial appearance,...
Alpha Thalassaemia X-intellectual disability syndrome Also known as: Alpha Thalassaemia Mental Retardation syndrome; Mental Retardation on the X-chromosome Background Alpha Thalassaemia X-intellectual disability (ATR-X) syndrome is a very rare genetic condition that affects boys only....
Joubert syndrome Also known as: Joubert-Boltshauser syndrome Background Joubert syndrome is a rare neurological condition characterised by developmental delay, floppiness (see entry Hypotonia), ataxia (lack of muscle control) and difficulty controlling oculomotor...
Barth syndrome Background Barth syndrome is a genetic condition that mostly affects males. The main problems are heart muscle weakness (see entry Cardiomyopathies) and neutropenia (low numbers of white blood cells called...
Congenital Ocular Motor Apraxia Also known as: Cogan’s Apraxiae; Saccade Initiation Failure Background The main feature of congenital ocular motor apraxia is an inability to make horizontal fast eye movements from birth. Fast eye...
Challenging Behaviour As all children grow up there are times when they show difficult or inappropriate behaviour. Challenging behaviour is a term that is used to describe particularly “difficult” or “problematic” behaviour,...
Prader-Willi syndrome Also known as: Prader-Willi Labhart Background Prader-Willi syndrome is characterised by two main phases. At birth and in infancy, hypotonia (floppiness), sleepiness and feeding difficulties are usually present. Thereafter, hypotonia...
Kabuki syndrome Also known as: Kabuki Make-up syndrome; Niikawa-Kuroki syndrome Kabuki syndrome is a genetic condition that results in a typical pattern of physical and developmental problems. The facial features of the...
Cortical Malformations Also known as: Lissencephaly; Polymicrogyria Lissencephaly Neuronal migration describes the journey the nerve cells make from the inner to the outer surface of the brain during development to form the cortex...