Krause-Kivlin syndrome: A rare genetic disorder characterized by short limb dwarfism, mental retardation and Peters anomaly.
The list of signs and symptoms mentioned in various sources for Krause-Kivlin syndrome includes the 38 symptoms listed below: * Mental retardation * Growth deficiency * Low birth length * Round face * Prominent forehead * Widely spaced eyes * Long philtrum * Cupid-bow shape of upper lip * Thin vermilion border * Small ears * Malformed ears * Small lower jaw * Broad neck * Preauricular pits * Peters anomaly * Anterior eye chamber cleavage disorder * Nystagmus * Glaucoma * Central corneal leukoma * Central defect of Descemet's membrane * Shallow anterior chamber * Short limbs * Decreased range of elbow motion * Broad hands * Short hands * Broad feet * Short feet * Fifth finger clinodactyly * Cardiac defects * Atrial septal defects * Ventricular septal defects * Pulmonary stenosis * Hydronephrosis * Duplication of kidneys * Undescended testes * Infant feeding problems * Delayed developmental milestones * Impaired vision Note that Krause-Kivlin syndrome symptoms usually refers to various symptoms known to a patient, but the phrase Krause-Kivlin syndrome signs may refer to those signs only noticable by a doctor.
Other Possible Causes of these Symptoms * Broad feet * Broad hands * Cardiac defects * Decreased range of elbow motion * Delayed developmental milestones * Fifth finger clinodactyly * Glaucoma * Growth deficiency * Impaired vision * Infant feeding problems * Long philtrum * Malformed ears * Mental retardation * Nystagmus * Prominent forehead * Round face * Short feet * Small ears * Small lower jaw * Widely spaced eyes
Routine studies should include a CBC, sedimentation rate, urinalysis, chemistry panel, thyroid profile, VDRL test, quantitative stool fat, a sweat test, and x-rays of the skull and long bones. If Turner's syndrome is suspected, a buccal smear for sex chromogen may be done. If pituitary dwarfism is suspected, a CT scan of the skull may be helpful. Additional endocrine tests include a serum growth hormone level before and after exercise, a resting somatomedin-C level, and an overnight dexamethasone suppression test. In patients suspected of having rickets and hypoparathyroidism, 24-hr urine calciums may be done. However, it is best to consult a pediatrician, endocrinologist, or orthopedic surgeon before proceeding with expensive diagnostic tests.