IVIC syndrome An AD condition characterized by multiple congenital defects, eg, a defect in the radial 'ray'–an embryologic structure from which the radial bone and related musculoskeletal structures arise, strabismus, deafness, thrombocytopenia
A rare inherited disorder involving bone abnormalities such as fusion of upper foot bones and premature fusion of skull bones which prevents the skull from growing normally. Symptoms can range from mild to severe.
A rare chromosomal genetic syndrome where the male person has an extra Y male chromosome, becoming XYY instead of normal XY (male) or XX (female). The person is male and may be mostly normal, or may suffer from minor features from excess male hormones, such as excess acne being very tall, and in some cases behavioral complaints such as aggression.
A very rare chromosomal disorder involving the absence of a portion of chromosome 11q. The range and severity of symptoms is determined by the size of the portion that is deleted.
A rare, inherited disorder characterized by thickening of nails, white patches on mouth and anus(leukoplakia) and thickened hard skin on soles and palms
A rare inherited syndrome characterized by loose joints, slipped vertebrae and long, thin fingers.
An acute and frequently fatal vomiting disease associated with central nervous system symptoms and marked hypoglycaemia, caused by eating unripe ackee fruit of Blighia spaida, a tree common in jamaica.
A rare inherited syndrome characterized by involuntary muscle jerking and progressive muscle wasting in the hands and feet.
A rare genetic disorder characterized by extremely short stature, unusual face and skeletal and joint abnormalities.
A form of encephalitis caused by a flavivirus (Japanese B encephalitis virus - JBEV) and transmitted by mosquito bites.
A rare genetic disorder characterized by spinal column abnormalities, dwarfism and a swollen abdomen as well as other anomalies.
A rare birth defect where developmental abnormalities result in the small intestine being completely absent or blocked.
A very rare genetic disorder characterized mainly be abnormal or absent kidneys as well as jejunal atresia. Jejunal atresia is a birth defect where a portion of the small intestine (jejunum) is completely closed off or blocked due.
A rare genetic disorder characterized by degeneration of the optic nerve (causing impaired vision), deafness due to nerve damage and dementia due to calcification of the central nervous system
A very rare syndrome characterized mainly by various skeletal abnormalities and facial anomalies.
A rare condition characterized by congenital deafness and a long Q-T interval which is where the heart takes longer than normal to recharge after a heartbeat.
A rare genetic disorder characterized by short limbs, underdeveloped iliac wings and a narrow rigid thoracic cage that often results in asphyxiation.
A very rare syndrome characterized mainly by short-limbed dwarfism, small chest, abnormally placed internal organs and various other abnormalities
That's a nicely made answer to a challenging quieston
A rare genetic disorder involving a range of abnormalities including a characteristic beak-like small nose, hypothyroidism and deafness.
A rare congenital disorder characterized by cataracts, cleft palate, high nose bridge, extra finger and tongue abnormalities.
A rare congenital disorder characterized by missing fingers and toes, abnormal vertebrae and various malformations of the organs.
Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.
A very rare lethal syndrome characterized mainly by contractures and thickened skin
A very rare syndrome characterized mainly by loose joints. Joint dislocations tend to occur mainly in the shoulders, hips and kneecap.
A rare congenital disorder characterized by missing toes, cleft palate, blistered skin and absent patches of skin at birth.
A very rare syndrome characterized mainly by progressive hearing loss and gum tumors.
a rare familial syndrome with autosomic dominant type inherited and variable expressivity in four generations.
Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis - an area of the brain that controls balance and coordination -- as well as a malformed brain stem (molar tooth sign). The most common features of Joubert syndrome in infants include abnormally rapid breathing (hyperpnea), decreased muscle tone (hypotonia), abnormal eye movements, mental retardation, and the inability to coordinate voluntary muscle movements (ataxia). In most other cases, Joubert syndrome is inherited in an autosomal recessive manner (meaning both parents must have a copy of the mutation) via mutation in at least 10 different genes, including NPHP1, AHI1, and CEP290