Down syndrome

CHILD HAS PROBLEM:

Patau:
EDWARDS:

Congenital heart disease/ Cataracts Hypotonia / Hypothyroidism Incure 5th finger/Increased gap between 1 & 2 toe Leukemia risk x2/ Lung problem Duodenal atresia / Delayed development Hirshsprung's disease / Hearing loss Alzheimer's disease / Alantoaxial instability Squint/ Short neck Protruding tongue/ Palm crease Round face/ Rolling eye (nystagmus) Occiput flat/ Oblique eye fissure Brushfield spot/ Brachycephaly Low nasal bridge/ Language problem Epicanthic fold/ Ear folded/ Esophageal atresia Mental retardation/ Myoclonus/ Malrotation of bowel

P: cleft Palate
Eighteen (trisomy) Digit overlapping flexion Wide head Absent intellect Rocker-bottom feet Diseased heart Small lower jaw

P: Polydactyly P: holoProsencephaly P: Parieto-occipital scalp defects/punched out scalp lesions P: Polycystic Kidneys

Neurofibromatosis type 1 CAFE SPOT

TUBEROUS SCLEROSIS Tu=tuber calcification(of the perivent causing hydrocephalus) and tumor (malig astrocytoma) B= blood in urine(hamartoma or PCKD) E=eye...retinal mulberry R= rhabdomyoma of heart O=off white skin (ash,hypo-pigmented skin lesions) U=sub-Ungual fibromas S=shagreen and sebaceous abenoma.

Caf au lait spots Axillary freckling Fibromatosis Eye- Lisch nodules Skeletal bowing Positive family history Optic Tumor

Complications: 1. CNS: Gliomas, vessel anomalies and seizures 2. Abd tumors: Neuroblastoma, Wilms, Pheochromocytoma 3. Leukemia 4. Rhabdomyosarcoma
Neurofibromatosis type 2 MISME Multiple Inherited Schwannoma Meningioma Ependymoma