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...
Pallister-Killian syndrome Background Pallister-Killian syndrome (PKS) is a rare chromosome disorder, also called tetrasomy isochromosome 12p. Affected individuals display typical facial features as well as developmental delay. Credits Last updated October 2017...
Agenesis of the Corpus Callosum Background Agenesis of the corpus callosum (ACC) is a rare neurological condition where the corpus callosum is underdeveloped. The corpus callosum is a bridge of white matter joining the two...
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...
Dandy-Walker syndrome Background Dandy-Walker syndrome (DWS) is a brain malformation involving the cerebellum (an area at the back of the brain that controls movement) and the fluid-filled spaces around it. Within the...
Congenital disorders of Glycosylation Background Congenital disorders of glycosylation (CDG) are a group of inherited metabolic conditions that affect all parts of the body. In CDG, there are abnormal sugar chains attached to proteins,...
Bardet-Biedl syndrome Also known as: Laurence-Moon-Bardet-Biedl syndrome; Laurence-Moon-Biedl syndrome Background Bardet-Biedl syndrome (BBS) is a rare inherited (autosomal recessive) condition. It is characterised by vision loss, obesity, additional fingers and/or toes, undeveloped...
Leber’s Congenital Amaurosis Also known as: Leber’s Amaurosis Overview Leber’s congenital amaurosis (LCA) is a rare, inherited disorder of the retina (the light-sensitive cells at the back of the eye), in which there...
Toxoplasmosis Background Toxoplasmosis is an infection that is caused by the parasite Toxoplasma gondii, which affects all warm blooded animals including humans. Infection is caught by eating anything infected or contaminated with...
Autosomal Recessive Hypophosphatemic Rickets Type 2 Also known as: ARHR2; ENPP1 deficiency Background Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) is an extremely rare skeletal condition, characterized by low phosphate levels in the blood (hypophosphatemia) as...
Diabetes – Monogenic Diabetes Also known as: Familial Diabetes; Neonatal diabetes Background Monogenic diabetes (diabetes caused by a genetic change in a single gene) affects approximately 2 per cent of cases of diabetes in...
Wolf-Hirschhorn syndrome Also known as: 4p- syndrome; Chromosome 4p- syndrome; Pitt-Rogers-Danks syndrome Background Wolf-Hirschhorn syndrome is a rare chromosome disorder. The syndrome is caused by a missing section (deletion) of genetic information...
Timothy syndrome Also known as: TS Background Timothy Syndrome (TS) is a rare, multi-system condition caused by genetic changes in the L-Type calcium channel gene named CACNA1C. Individuals with Timothy Syndrome are...
Opitz-Kaveggia/FG syndrome Also known as: Keller syndrome; Opitz FG syndrome; Opitz-Kaveggia syndrome Background FG syndrome was first described by Professor Opitz and Dr Kaveggia in 1974. It became known as FG syndrome...
Generalised Arterial Calcification of Infancy Background Generalised arterial calcification of infancy (GACI) is a very rare condition, which was first described in 1901. Since this time, only a very small number of infants (approximately 100...
Costello syndrome Also known as: Faciocutaneoskeletal syndrome (FCS) Background Costello syndrome (CS) is a rare genetic condition. It is usually diagnosed early in life because of severe feeding difficulty, or a difference...
Williams syndrome Also known as: Infantile Hypercalcaemia; Williams-Beuren syndrome Background Williams syndrome is a rare congenital (present at birth) condition that is caused by missing genetic material from chromosome 7. Individuals with...
Smith-Magenis syndrome Background Smith-Magenis syndrome (SMS) is a rare condition that is associated with developmental delay, learning difficulties (see entry Learning Disability), behavioural difficulties and a disturbed sleep pattern. SMS was first described...