SUPPORT
FOR
CHROMOSOME 22 RELATED DISORDERS
Click here for an online membership form to JOIN US!
Registered members receive our newsletter and can choose to be listed in our parent registry.
Also, join our discussion list.
What would you like to do?
I
want to learn about chromosome 22 disorders
I want to find out about
current news
I want to learn about
current research
I want to connect with
other families
I want to know about
upcoming
conferences and events
I want to find related
resources
on other genetic disorders
I want to return to the main
index
We
are proud members of
the Genetic Alliance.
Volunteers,
professional input
and donations are welcomed
CLINICAL
FINDINGS IN
COMPLETE TRISOMY 22 PATIENTS
This list of findings in Complete trisomy 22 patients was compiled by going through several journal articles. 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. Nor are they a complete list of every case. 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 counsellor.
| absence of corpus callosum | limbal and epibulbar complex choristoma |
| small for gestational age | early death |
| microcephaly | cranial / facial assymetry |
| frontal bossing | depressed superciliary region |
| occiputal anomaly | Holoprosencephaly |
| sparse hair | hypertelorism |
| downslanting eyes | epicanthal folds |
| microphthalmia | small palpebral fissures |
| prominent eyes | colobomata |
| broad nose | flat nose |
| high bridge | long philtrum |
| webbed neck | Goldenhar sequence |
| micrognathia | cleft palate |
| single umbilical artery | diaphragmatic hernia |
| low set ears | malformed ears |
| ear pits / tags | hypoplastic nails |
| clinodactyly | radial anomaly |
| hypoplastic digits | simian crease |
| bracydactyly | small hands |
| hallux valgus | clubbed feet |
| limited range of motion | rocker bottom feet |
| anomalous external genitalia | anomalous internal genitalia |
| left hemifacial microsomia | narrow chest |
| intrauterine dystrophy | hypoplastic nipples |
| hypotonia | hypospadias |
| hydrocephaly | small phallus |
| hypoplastic scrotum | |
| strabismus | undescended testes |
| antimongoloid palpebral fissures | anal stenosis / atresia |
| short wide neck | |
| distal limb hypoplasia | no fingertip pattern |
| persistant left superior vena cava | dry, thin wrinkled skin |
| genital malformation or hypoplasia | small dysplasic kidneys |
| bilateral cleft lip and palate | hypoplastic lungs, pancreas and adrenals |
| low set ears | bilateral absence of olfactory bulbs and tracts |
| excess nuchal skin | incomplete descent of the cecum |
| proximally placed or fingerlike thumbs | long fingers |
| Pierre Robin Syndrome | tonic-clonic seizures |
| contracted pelvis | imperforate anus with anovulvar fistula |
| intersex
(report of external male organs but rudimentary female internal organs |
|
| uveal colobomas | hypotrophism |
| brachycephaly | arhinincephaly |
| bilateral pterygium colli | cutis laxa on arms and hands |
| unilateral transverse palmar crease | elbow joints contracted in felxion |
| Fallots pentalogy with atresia of pulmonary valve | dextroposition of the aorta |
| hypertrophy of the right atrum and ventricle | Ventricular Septal defect |
| great interatrial septal defect | persistent left cardinal vein |
| absent right umbilical artery | hypoplasia of the bilobate lungs |
| multiple hypoplasia of the diaphragm | malrotation of gut |
| lien pendulans | renal anomalies |
| kyphosis | anorectal anomalies |
| sacral dimple | lymphedema |
| thin upper lip | cleft lip |
Use Paypal to donate or to pay your membership dues.
Chromosome 22 Central Inc. is a
registered Canadian Non-Profit Organization
and Registered Charity BN# 86009 3665 RR0001, and a Registered US
Corporation.
| Head
Office: Stephanie St-Pierre 237 Kent Avenue, Timmins ON CANADA P4N 3C2 tel/fax: (705) 268-3099 EMAIL: c22c@ntl.sympatico.ca or steph.stpierre@gmail.com |
US
Head Office: Murney Rinholm 7108 Partinwood Drive Fuquay-Varina, NC 27526 USA tel (919) 567-8167 EMAIL: bgr@nc.rr.com |
Spanish/Espanol
Laura Munoz Robinson Crusoe 1209, Las Condes - Santiago, Chile tel: 02-3251262 EMAIL: lauramuno@hotmail.com |
22q11/VCFS/DGS
Correspondent Nikki Johnson-Duffell 965 Sandy Cross Rd. Carlton, GA 30627 nikki.johnson@johnsonfordsales.com |
| OR contact a family in your area - meet our international representatives! | |||