Chromosome 10p duplication syndrome: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 11 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
Craniolenticulosutural dysplasia: A rare syndrome characterized by skeletal defects and an unusual facial appearance consisting mainly of a prominent forehead, wide-set eyes, broad nose and a prominent forehead with a birthmark.
Dysequilibrium syndrome: A very rare syndrome characterized mainly by mental retardation and nonprogressive incoordination.
Ehlers-Danlos syndrome, classic type: A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility - a combination of ED types I and II.
FACES syndrome: A rare syndrome characterized mainly by short stature, webbed fingers and toes and skeletal abnormalities.
Familial hypertryptophanemia: A rare genetic metabolic disorder characterized by high levels of tryptophan in the blood. The disorder tends to run in families (familial).
Fitzsimmons-Guilbert syndrome: A very rare syndrome characterized mainly by paraplegia, short fingers and bone abnormalities. The paraplegia progresses slowly.
Furlong-Kurczynski-Hennessy syndrome: A very rare syndrome characterized by the association of premature fusion of skull bones with Marfanoid features. The disorder arises from abnormal connective tissue.
Posterior tibial tendon rupture: Rupture of the tendon at the bottom of the foot that helps maintain the foot arch. Some people are more prone to this condition than others - e.g. those who are over weight or have a history of flat feet. The pain usually begins on the inside of the foot behind the ankle.
Rhizomelic syndrome: A very rare syndrome characterized mainly by short upper arm and thigh bones. Death frequently occurs in early childhood.
Seckel syndrome 3: Seckel syndrome is a rare inherited disorder mainly involving retarded growth, mental retardation, small head and a facial appearance resembling a bird. It is often referred to as bird-headed dwarfism. There are three subtypes of the disorder with type 1 being the most severe.
Spinal muscular atrophy, Ryukyuan type: A recessively inherited disorder occurring in males from a Japanese inhabitants of Ryukyu Islands. The disorder is characterized by muscle wasting and weakness that affects the lower legs more than the arms.