Table 4: Clinical evaluation (multisystem involvement) of patients with KS.
Body weight and growth |
Typically born with normal growth parameters, fail to thrive during infancy (Sucking and swallowing problem, gastroesophageal reflux), Over weight and Obesity |
Otolaryngological findings |
Dysmorphic pinnae, otitis media and hearing loss (conductive hearing loss & sensor neural type of hearing loss) |
Ophthalmological findings |
Ptosis, strabismus, blue sclera and refractive error |
Cardiac malformations |
Prevalence -40-50%. Atrial septal defects, Ventricular septal defects, and Aortic coarctation |
Gastrointestinal abnormalities |
Intestinal malrotation, abnormalities of the anus or rectum, biliary atresia, hepatic fibrosis, and sclerosing cholangitis |
Cancer |
Neuroblastoma, hepatoblastoma, Epstein-Barr virus (EBV)-positive Burkitt’s lymphoma |
Urogenital abnormalities |
Prevalence: 30%-40% hydronephrosis, abnormal kidney position, renal hypoplasia or dysplasia, and fusion defects in the kidneys, cryptorchidism (25%), small penis (10%) and hypospadias renal duplication, multicystic dysplastic kidneys, ectopic kidneys or a duplicated ureter |
Endocrinological findings |
Premature thelarche, hypothyroidism, hyperin-sulinism hypoglycemia, diabetes insipidus, primary ovary dysfunction, growth hormone deficiency, short stature |
Skeletal findings |
80% of KS cases has skeletal abnormalities (rib anomalies, vertebrae malformations, scoliosis, cleft hand, and brachydactyly and/or clinodactyly of the fifth digit, coronal and metopic synostosis) |
Skin and connective tissue disorders |
Persistence fetal finger pads-common and distinctive symptom of KS abnormal dermatoglyphic pattern, hypothenar and interdigital ulner loop patterns, facial laxity, joint hyperlaxity and joint dislocations |
Immunologic/hematologic abnormalities |
Middle ear and upper airway tract infection due to decreased IgA and IgG and severe immunodeficiency with hypogammaglobulinemia, acute lymphocytic leukemia, idiopathic thrombocytopenic purpura and/or hemolytic anemia |
Neurological symptoms and developmental/behavior problems |
Hypotonia, seizure, cerebral atrophy, ventriculomegaly, microcephaly, autism, intellectual disability, psychomotor development and adaptive behavior |