Smith-Lemli-Opitz syndrome Background Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder of cholesterol synthesis caused by mutations in 3β-hydroxysterol Δ7-reductase (DHCR7) gene. The estimated incidence of SLOS is between 1 in...
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...
Poland syndrome Poland syndrome is a rare developmental disorder (1 in 20,000 live births) which is present at birth (congenital). It consists of underdevelopment of some or all of the chest, shoulder...
Prematurity and Sick Newborn Background Pre-term (also known as premature) infants are those which are born before 37 weeks’ gestation (time within the womb). With modern care during pregnancy and with neonatal (the period...
Pulmonary Hypertension of the Newborn Background Persistent pulmonary hypertension of the newborn (PPHN) is a rare disorder of the lungs which occurs at birth or shortly thereafter. The symptoms include cyanosis (blue cast of the...
Anxiety disorders Background Anxiety can be defined as a disproportionate feeling of worry, nervousness, or unease about something with an uncertain outcome. It can be brief, often in response to a frequently...
Congenital Absence of the Testes Also known as: Anorchia Congenital absence of the testes (anorchia) is a very rare condition where the testes are absent when a baby is born. The testes are two egg-shaped...
Cot Death Also known as: Sudden infant death syndrome (SIDS) Background Cot death is the sudden and unexpected death of a baby for no obvious reason. The post-mortem examination may explain some...
Craniosynostosis Background Abnormalities of skull shape can arise either from external pressure applied on the head in pregnancy or infancy, or from problems when the skull is growing. The most common...
Dyspraxia Also known as: Developmental Coordination disorder; Motor Learning Difficulty; Percepto-motor Dysfunction If your child is affected by a medical condition or disability we can help. Call our freephone helpline on...
Holoprosencephaly Also known as: Alobar HPE Background Holoprosencephaly (HPE) is a series of brain malformations in which there is incomplete development of the cerebrum. Its effects on the child range from...
Klippel-Trenaunay syndrome Also known as: Klippel-Trenaunay-Weber syndrome Background Klippel-Trenaunay syndrome is a rare congenital disorder of blood vessel abnormalities affecting one or more limbs. It is characterised by superficial capillary (tiny blood...
Krabbe disease Also known as: Galactosylceramidase Deficiency; Galactosylcerebrosidase Deficiency; Globoid Cell Leukodystrophy Background Krabbe disease is a rare genetic condition in which the white matter of the nervous system degenerates. It is...
Majewski Osteodysplastic Primordial Dwarfism Type II Also known as: MOPD II Background Majewski osteodysplastic primordial dwarfism type II (MOPD II) is a form of primordial dwarfism, which is the name given to a group of disorders...
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...
Microcephaly Background Microcephaly is a term used when there is sub-optimal growth of the brain, which causes it to be smaller than usual. Microcephaly is discovered after measuring the child’s head...
Albright Hereditary Osteodystrophy Also knowns as: AHO with Pseudohypoparathyroidism; Pseudo-pseudohypoparathyroidism Background Albright hereditary osteodystrophy (AHO) is a genetic condition described by a Dr Fuller Albright in 1942 and 1952, and characterised by a...
Canavan disease Also known as: Canavan-Van Bogaert-Bertrand disease; Van Bogaert-Bertrand syndrome; Von Bogaert-Bertrand disease Background Canavan disease is a rare genetic condition that affects the nervous system. It is a leukodystrophy coming...