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...
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...
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...
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...
Premature Sexual Maturation Background Girls normally enter puberty between the ages of 8 to 14 years, while the onset for boys is typically between the ages of 9 to 14 years. Precocious sexual...
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...
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...
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...
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...
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...
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...
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,...
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...
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...
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...
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...
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...