CH 14 Syndromes Flashcards
Beckwith – Wiedemann syndrome
Overgrowth syndrome
Hemihyperplasia occurs (overgrowth of one side of the body) becomes less apparent overtime.
Associated with: omphalocele, hypoglycemia, cryptorchism, Wilms tumor, duplicated collecting system, umbilical hernia, viseromegaly, hypospadia‘s, hepatoblastoma, macroglossia, nephrocalcinosis, heart defects, medullary sponge kidney
Cowden syndrome
Multiple hamartomas
genetic disorders
can occur in the testicle
Denys-Drash syndrome
A condition that affects the kidneys and genitalia
abnormal kidney function diffuse glomerulosclerosis scar tissue forms in the glomeruli
childhood renal failure occurs
90% chance of developing a Wilms tumor
Male genitalia malformation-external genitalia appear ambiguous or female cryptorchidism
Gaucher disease:
Type I: HSM, anemia, thrombocytopenia (low platelets)
Type II/III: seizures, brain damage
Perinatal lethal form: hydrops fetalis, HSM, dry scaly skin (ichthyosis) neurological problems
Henoch-Schonlein purpura
Allergic vasculitis of the small vessels
Frequent in the G.I. tract
Hurler syndrome:
Three syndromes
Umbilical or inguinal hernia
Macrocephaly, hydrocephalus, HSM
Developmental delays
Kawasaki disease
Suden acute illness occurs in infants and young children prolonged fever rash swollen nodes conjunctivitis erythema of the lips, mouth, tongue, palms and soles of feet
Klinefelter syndrome
Chromosomal condition
More common in males
Affects physical and cognitive development
Small testicles
Cryptorchidism
Hypospadias
Micropenis
Incomplete puberty
Klipple – Trenaunay syndrome
“Port wine“ stain
Overgrowth of bones, usually limited to one limb
Varicose vein’s
Lemierre’s syndrome
Rare inflammatory disease
Occurs in adolescence after an oropharyngeal infection
Results in thrombophlebitis of the tonsillar veins which propagates into the IJV
Septicemia can occur and result in septic emboli entering the lungs
Meckel- Gruber syndrome
Associated with renal cystic dysplasia enlarged kidneys with cysts Encephalocele NTD Holoprosencephaly Polydactyly Liver fibrosis
Poland syndrome: thorax
Males 3:1
2 x more common on the right side
Underdeveloped/absent pectoralis major muscle
Ipsilateral hypoplastic hand or syndactyly fingers
Maybe due to interruption of a subclavian artery, vertebral artery or branches
Prune belly syndrome
Triad of birth defects
Congenital absence of the abdominal muscles which caused the belly area to wrinkle like a prune Cryptoorchidism Urinary tract problems Abnormal urethral dilation Hydroureter VUR
Causes unknown
Primarily in males
Belly swells in utero due to urinary tract anomaly
AKA: Barrett-eagle syndrome
Pulmonary hypoplasia and chronic renal failure may be present
Smith-Lemli-Optiz syndrome
Microcephaly Developmental disorders Hypotonia Syndactyly/polydactyly Metabolic disorder Unable to make enough cholesterol Cleft palate heart/kidney defects males: under developed genitals
Tuberous sclerosis
Tumors and brain
Seizures
Facial angiofibromas
Tyrosemoia
