Familial Spastic Paraplegia Also known as: Familial Spastic Paraparesis; Hereditary Spastic Paraplegia; Strümpell-Lorrain disease Background Familial spastic paraplegia (FSP) describes a group of largely progressive conditions predominantly affecting the legs. At a clinical...
Duchenne Muscular Dystrophy Background Duchenne muscular dystrophy (DMD) is a muscle wasting condition, which gets worse over time. Muscle weakness occurs because of a genetic defect that prevents dystrophin, a protein in muscle,...
Chronic Infantile Neurologic Cutaneous and Articular syndrome Also known as: CINCA; Neonatal Onset Multisystem Inflammatory Disease (NOMID) Overview Chronic infantile neurologic cutaneous and articular syndrome (CINCA) causes persistent inflammation and tissue damage mostly affecting the nervous system,...
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...
VACTERL Association Background ‘VACTERL’ is the name for a group of developmental defects that often occur as a group (or ‘association’) in newborn babies. Credits Medical text written December 2005 by Mr...
Osteoporosis (Juvenile) Background Osteoporosis literally means ‘porous bones’. It occurs when the struts which make up the mesh-like structure within bones become thin causing them to become fragile and break easily following...
Megalencephaly-capillary malformation syndrome Background The main characteristics of megalencephaly-capillary malformation (MCAP) syndrome are megalencephaly (large brain size) and a marbled appearance of the skin (called cutis marmorata), which is present at birth and...
Achondroplasia Background Achondroplasia is a rare genetic condition that causes reduced bone formation at the ‘growth plate’ (a section of cartilage at either end of the bone, responsible for growth). This...
Group B Streptococcus Background Group B Streptococcus is the most common cause of infection in babies in the first few days of life. The infection may proceed so rapidly that even the most...
Goldenhar syndrome Also known as: Facio-auriculo-vertebral Dysplasia; Oculoauriculovertebral Dysplasia; Oculoauriculovertebral Spectrum (OAVS) Background The main features of this condition are under-development of one ear (which may even be completely absent) associated with...
Global Developmental Delay (GDD) A child may be described as having global developmental delay if they have not reached two or more milestones in all areas of development. What is Global Developmental Delay? Babies...
Friedreich’s Ataxia Also known as: Recessive Spino-cerebellar Degeneration Background Friedreich’s ataxia (also called FA or FRDA) is a rare genetic condition that causes damage to the nervous system, the spinal cord, peripheral...
Erb’s Palsy Also known as: Erb–Duchenne Palsy Background Erb’s palsy describes a paralysis of the nerves supplying the arm, mainly occurring after trauma during birth. The incidence of Erb’s palsy is now...
Diaphragmatic Hernia Also known as: Congenital Diaphragmatic Hernia Background The diaphragm is the muscular sheet that separates the chest from the abdomen. A congenital diaphragmatic hernia (CDH) is a defect or hole...
Cri du Chat syndrome Also known as: Chromosome 5 Short Arm Deletion; Deletion 5p- syndrome Cri du Chat syndrome is a caused by a deletion of a small piece of chromosome 5 and is...
Coffin-Siris syndrome Coffin-Siris syndrome is a rare genetic condition first described in 1970 by Dr Coffin and Dr Siris, and is found in both males and females. What are the symptoms of...
Aicardi syndrome Background Aicardi syndrome is a very rare neurological condition that occurs because of a congenital (present at birth) abnormality during brain development. It only occurs in girls as it is...
Acute Disseminated Encephalomyelitis Background Acute disseminated encephalomyelitis (ADEM) is an inflammatory disorder affecting the brain (enceph-) and/or spinal cord (myelitis). It is a rare condition mostly affecting children and is usually monophasic meaning...