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