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...
Xeroderma Pigmentosum Background Xeroderma Pigmentosum (XP) is a rare disorder where the skin has impaired ability to repair damage from ultraviolet (UV) light, including sunlight. This results in premature ageing of skin,...
Sotos syndrome Also known as: Cerebral Gigantism in Childhood Background In this rare syndrome, babies are generally significantly larger and heavier than average caused by excessive prenatal (before birth) and early post-natal...
Floating-Harbor syndrome Overview Floating-Harbor syndrome is a rare genetic condition caused by faults in a gene known as SRCAP. Those affected may be short in stature, have delayed bone growth, delay in...
Noonan syndrome Background Noonan syndrome was initially described by Professor Jackie Noonan who realised that many children with pulmonary stenosis also had similar physical features. Noonan syndrome was incorrectly referred to as...
Hemimegalencephaly Background This is a rare brain malformation which is characterised by the enlargement and malformation of an entire cerebral hemisphere. Credits Medical text written December 2001 by Dr H Cross....
Hyperekplexia Also known as: Startle disease Overview Hyperekplexia is an inherited genetic condition that mainly affects children and babies. An affected person will startle easily at a sudden sound, unexpected touch...
Mitochondrial diseases Background Mitochondrial diseases are a group of disorders that are extremely variable in the way people are affected. They occur when the mitochondria, the energy-producing structures found in nearly every...
Mowat-Wilson syndrome Also known as: Hirschsprung disease-microcephaly-mental Retardation syndrome Background Mowat-Wilson syndrome (MWS) is a rare disorder which was first described in detail by Dr DR Mowat and Dr MJ Wilson in...
Cleidocranial Dysplasia Also known as: Cleidocranial Dysostosis Cleidocranial dysplasia (CCD) is a hereditary congenital (meaning it is present at birth) skeletal condition characterised by delayed closure of the cranial vault sutures, (the...
Dravet syndrome Also known as: Severe Myoclonic Epilepsy of Infancy Background Dravet syndrome is a rare and severely disabling type of childhood epilepsy. The condition was first described in 1978 by Charlotte...
Hydranencephaly Background Hydranencephaly is a condition that usually arises in mid or late pregnancy when a major reduction of blood supply to the brain results in loss of most of both...
Pathological Demand Avoidance Pathological Demand Avoidance (PDA) is now widely understood to be part of the autism spectrum. Individuals who present with this particular diagnostic profile are driven to avoid everyday demands and expectations...
Learning Disability Also known as: Intellectual Disability Background Learning disability is usually identified in early childhood following concerns about slower than expected development. People with a learning disability tend to take longer...
Anophthalmia Also known as: Anophthalmos Background Anophthalmia is a rare congenital (present at birth) abnormality in which a baby has no eye in the socket. If the eye is small, this...
Aphasia Also known as: Dysphasia Aphasia is a complex condition that can affect an individual’s speech, understanding, reading or writing. There are an estimated 250,000 people in the UK who have...
Auditory Processing disorder Background To be able to hear well we need to have a normally functioning hearing system – outer, middle and inner ear, hearing nerve and part of the brain that...
Vein of Galen Malformation Background Vein of Galen malformation (VGM) is a rare arteriovenous malformation (AVM – an abnormal direct connection between arteries and veins) in the brain. High pressure blood flows directly from...