Chromosome 22 Central

CHROMOSOME 22 CENTRAL
SUPPORT FOR ALL CHROMOSOME 22 RELATED DISORDERS

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CLINICAL FINDINGS IN CES PATIENTS

This list of findings in Cat Eye Syndrome patients was compiled by going through several journal articles, and letters received from families who have affected children. The list is not intended to be for diagnosis, nor does it mean that any of the findings on the list will be present in all children. Findings may have only been found in one case, and are not listed in any order of most common first, etc. There is a great variability in this disorder. For some of the listings, I have tried to include links or definitions of some of the more obscure names, to help those not familiar with the terminology (including myself) understand their meanings. I was not able to find explanations for everything, so please contact your own professionals if you have questions. If you have any concerns, please discuss them with your doctor or genetics counselor.

failure to thrive	TAPVR (totally anomalous pulmonary venous return) - heart defect
Sloping forehead	Eisenmenger Complex - heart defect
prominent occiput	Tetralogy of Fallot
large fontanelles	Atrial Septal Defect
micropolygyria of the frontal lobes	Ventricular Septal Defect
widely patent cranial sutures	hypoplasia of the mitrial valve
epicanthal folds (inturned bits of skin at the inner corner of eyes)	pulmonary segmentation defects
hypertelorism (widely spaced eyes)	persistent vena cava superior
antimongoloid slanting eyes	cyanosis
depressed nasal bridge	right palpebral ptosis
prominent nose / flattened nose	bilateral coloboma of iris & choroid
long philtrum (the vertical area below the nose over the top lip)	aniridia (absence of iris)
bilateral preauricular skin tags & pits	strabismus
widely spaced nipples	micropthalmia
narrow chest	Duane anomaly (an unusual form of strabismus)
microtia with atresia of external auditory canal (small, abnormal or missing ears)	retinal amotio
atretic external ear canals/ absent ear canal	corneal clouding / cataracts
low set ears	rectovaginal fistula
short neck	anorectal atresia
low posterior hairline	Megaureter
skin tags on checks	Hirschprungs Disease (megacolon)
high arched palate / misaligned teeth	anal atresia
cleft lip & palate	intestinal malrotation( malrotation of gut)
choanal atresia (lack of connection between the nose and mouth)	doubling of the pelvis and ureter on both sides
facial asymmetry	radial aplasia / radial dysplasia
micrognathia(small, underdeveloped jaw)	hypoplastic fingers and toe nails
macrostomia (increased width of the mouth, resulting from failure of union of the maxillary and mandibular processes with extension of the oral orifice toward the ear)	vertebral fusions
absence or stenosis of ribs	fixed flexion in index & little fingers
microcephaly	duplication of the hallux (large joint at base of great toe)
hydrocephalus(water on the brain)	absent toes and sirenomelia (fusing of legs together, like a mermaid)
dolichocephaly (long skull)	hydronephrosis (stretching or dilation of the inside or collecting part of the kidneys, often resulting from blockage in the ureter where it joins the kidney, blocking urine in the kidney causing it to stretch)
hypothalmic growth hormone deficiency	extra kidneys
hypoplastic uterus & vaginal atresia	vesicourethral reflux
hypospadias	unilateral renal absence / hypoplasia
Urinary tract infections	intrahepatic or extrahepatic biliary atresia
undescended testes / abdominal testes	Meckel diverticulum (lower GI bleeding)
small scrotum / incurved penis	cystic dysplasia (renal)
umbilical hernia / hernias	genu valgum (knock knee)
single palmar creases	scoliosis
spina bifida	hip dislocation
feeding difficulties	single umbilical artery
respiratory distress	behaviour issues / ADHD
hypothyroidism	muscular hypotonia (muscle weakness)
abnormality of the larynx / partial laryngeal atresia	vocal cord web
pedes adducti	pars plana vitreotomia
bilateral malar hypoplasia

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HEAD OFFICE - for ALL inquiries: Chromosome 22 Central, c/o Stephanie St-Pierre, 237 Kent Avenue, Timmins, Ontario, Canada P4N 3C2 tel/fax: (705) 268-3099, EMAIL: steph.stpierre@gmail.com

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