Boys normally have 46 chromosomes in each of their cells, but boys with 48XXYY syndrome have an extra X and and an extra Y chromosome, one from their mother, one from their father, so they have 48 chromosomes. The main effect of this is to disrupt male sexual development.
Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES)
BPES stands for Blepharophimosis Ptosis Epicanthus Inversus Syndrome. It is a genetic disorder affecting most notably the eyelids. It affects one in 50,000 people, both male and female.
Cerebrotendinous xanthomatosis (CTX)
Cerebrotendinous xanthomatosis is a rare genetic disorder that affects an individual’s ability to manage and store certain fats (lipids) in the body.
Xanthomatosis refers to the formation of fatty yellow nodules known as xanthomas. Cerebrotendinous refers to the typical locations of these xanthomas in the body - cerebro means the brain and tendinous means tendons (tissue that attaches muscle to bone).
The disorder has also been referred to as cerebral cholesterinosis, cerebrotendinous cholesterinosis, cholestanol storage disease, Van Bogaert-Scherer-Epstein Disease, 27 Hydroxylase Deficiency and CTX.
Cleidocranial Dysplasia (CCD)
Cleidocranial Dysplasia (CCD) is also known as Cleidocranial Dysostosis, Dysplasia Osteodental and Marie-Sainton Disease.
CCD stands for Cleidocranial Dysplasia. Cleido refers to the clavicles or collarbones, cranial means head and dysplasia means unusual growth/development.
Feingold syndrome type 1 (FS1)
Feingold syndrome type 1 (FS1) is a very rare genetic disorder affecting many parts of the body. Individuals with the condition are typically born with a blockage in part of their digestive system, have unusual fingers and toes, a smaller than average head size and learning disability.
Feingold syndrome has also been called Oculodigitoesophagoduodenal syndrome or ODED syndrome (oculo-eyes, digito-fingers and toes, oesphago – food pipe, dueodenal – a part of the small intestine).
Hereditary hyperekplexia is a rare inherited, non-epileptic neurological disorder characterised by an unusually extreme startle reaction to sudden unexpected noise, movement, or touch.
Other names for the condition include: Familial Hyperekplexia, Congenital Stiff-Person syndrome, Stiff-Baby syndrome, Startle syndrome, Familial Startle Disease, Exaggerated Startle Reaction, Hyperexplexia, Kok Disease and HPX.
Klippel-Feil Syndrome (KFS)
Klippel-Feil syndrome (KFS) can also be referred to as Cervical Vertebral Fusion, Congenital Cervical Synostosis, Klippel-Feil anomaly, Klippel-Feil malformation and Klippel-Feil sequence. There are three subdivisions of KFS, referred to as Type I, Type II and Type III respectively.
Myhre syndrome is a very rare genetic disorder with a range of features affecting different body systems and functions. The disorder has also been referred to as Growth-Mental Deficiency syndrome of Myhre, and the disorder laryngotracheal stenosis, arthropathy, prognathism, and short stature (LAPS) syndrome is now generally considered to be the same condition as Myhre syndrome.
Norrie disease (ND) is a very rare X-linked genetic disorder which primarily causes blindness or significant vision loss in boys from birth. Norrie disease is also sometimes called Norrie syndrome. Other terms previously used to describe the condition include Atrophia bulborum hereditaria, Pseudoglioma and Episkopi blindness.
Peters Plus syndrome
Peters Plus Syndrome is an inherited disorder characterised by eye abnormalities, short stature, developmental delay, an opening in the lip and distinctive facial features. It is also known as Krause-Kivlin Syndrome.
Rhizomelic Chondrodysplasia Punctata (RCDP)
Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive form (in 99.9% of cases) of chondrodysplasia punctata characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondrial bone formation.
Stargardt’s disease is also sometimes called fundus flavimaculatus, Stargardt’s macular dystrophy, juvenile macular degeneration and STGD.