CHROMOSOME 22 CENTRAL 
SUPPORT FOR
ALL CHROMOSOME 22 RELATED DISORDERS 

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CLINICAL FINDINGS IN
CHROMOSOME 22 RING PATIENTS

This list of findings in Chromosome 22 Ring 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 counselor. 


severe mental retardation no development of speech
general hypotonia unsteady gait
congenital right-sided hydronephrosis hydroureter
urinary tract infections prominent occiput
facial dysmorphism rigid metopic sutures
downward slanting palpebral fissures esotropia
epicanthus large low set ears
tented upper lip small umbilical hernia
bilateral calcaneovalgus deformity puffy feet
high vaulted palate enamel defects
undescended testes testicular tumor
neurofibromatosis large flat ears,
prominent nose incoordinated movement
widely spaced eyes epicathal folds
drooping eyelids underdeveloped toenails
webbed fingers and toes small eyes
long eye lashes cardiac defects
bipolar disorder hyperactivity
cleft palate imperforate anus
dysphagia meningiomas
thin ribs radial head hypoplasia
bilateral ocular colobomas thoracolumbar scoliosis
lack of complete closure of one eye wide spaced nipples
mild cutaneous syndactyly of fingers and toes unlar deviation of the hands
narrow hands and feet tight heel cords
contractures of elbows hypertonia
gum hyperplasia micrognathia
large extremities high forehead
upslanting eyes Hypomelanosis of ito
spina bifida occulta with sacral dimple metachromatic leucodystrophy
seizures

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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

  US Head Office - for US donations: Chromosome 22 Central, c/o Murney Rinholm, 7108 Partinwood Drive, Fuquay-Varina, North Carolina, 27526  USA, tel (919) 567-8167, EMAIL: bgr@nc.rr.com

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