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Chromosome 22 Central Inc.
is a registered Canadian Non-Profit Organization
and Registered Charity BN# 86009 3665 RR0001, and a Registered US
Corporation with Non-Profit Status
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MISCELLANEOUS
ABNORMALITIES IN T(11;22) CHILDREN
There
are a large variety of abnormalities in t(11;22) cases. Cleft palate
(includes Pierre Robin Sequence), heart defects, mental and physical
delays, ear abnormalities, genital/anal malformations, dislocated
hips, and kidney abnormalities, are among the most common
findings. I have gone through several case studies, as well as letters
sent in to me by 11;22 families, and have compiled this list of findings. They
are NOT listed by percentage, or in any particular order, and the fact
that they are listed does NOT mean that your child will have/develop these
symptoms.
It may be that only one or two cases have ever presented these problems.
If you are a parent reading this and have a child with additional findings
not presented here, I'd be pleased to add them. If you are unfamiliar with
any of the terms here you are advised to discuss them with your own
medical professional.
*means
this issues was not visible to me in the current medical literature, but
seen in members of our group.
Heart
Issues:
- Coarctation
of the aorta
- Double
aortic arch
- Atrial
Septal Defect
- Ventricular
Septal Defect
- Hypertrophy
of the right ventricle
- Papillary
asymmetry
- Cardiomegaly
- Ventricular
hypertrophy
- Supracardiac
totally anomalous pulmonary venous connection
- Separate
valvar orifices for the right and left ventricles
- Exclusively
atrial shunting
- Stenosis
of the pulmonary artery with secondary hypertrophy of both ventricles
- Persistent
left superior vena cava
- Partial
right bundle branch block
- Endocardial
cushion defect
- Persistent
ductus Botalli
- Fibroelastosis
of the right ventricle
- Tetralogy
of Fallot
- Patent
Bottalo duct and foramen ovule
- Anomalous
venous pulmonary drainage
- Ebstein
anomaly
- Pulmonary
stenosis
- Mitral
valve leak*
- Missing
pericardium*
LUNGS
- Bronchiectasis
*
- Hypoplastic
lungs
- Hypoplasia
of the left lung and bronchial tree
- Reactive
airway disease*
SKELETAL/ORTHOPEDIC
- Scoliosis
- kyphosis
- Hip
dislocation
- Limited
hip abduction
- Incomplete
elbow extension
- Posterior
dislocation of the coccyx
- Small
hands and feet
- Proximally
displaced fingerlike thumbs
- Retarded
bone growth
- Torticollis
- Flexion
contractures in elbows, hips and knees
- Rockerbottom
feet
- Hyperflexibilty
and hypermotility of joints (knees, elbows, etc.)
- Flexion
contractures of the fingers
- Slightly
protruding heels
- Feet
in calcaneovalgus position
- Arachnodactyly
(abnormally long and slender fingers)
- Club
feet
- Hypocalcification
of the lower limbs
- Abnormal
clavicles
- Absent
midportion of right clavicle
- Butterfly
cervical vertebrae
- Extra
pairs of ribs
- Cubitus
valgus (deformity in which the elbows are turned out)
- Pectus
excavatum (suken or “funnel” chest)
- Extra
bone in left forearm*
- Syndactyly
of toes
- Long,
tapered fingers
- Sprangles
deformity* (shoulder blade)
- Tethered
spinal cord *
Ears
- Larger
ears
- Low
set ears
- Missing
or malformed outer ear
- Malformed
inner ear bones
- Ear
pits
- Ear
tags
- Narrow
ear canal
- Third
helix
- Anteriorly
rotated ears
- Absence
of auditory canals
- Sensorineural
and conductive hearing loss
INTERNAL
- Uvula
agenesis
- Bifid
uvula
- Cleft
palate – soft and/or hard
- High
palate
- Pierre
Robin Sequence
- Glossoptosis
- Small
epiglottis
- Excess
cartilage in airway*
- Downcurved
mouth
- Micrognathia
(small jaw)
- Bulbous
nose
- Prominent/long
philtrum
- Large
nose
- Choanal
atresia*
- Paralyzed
vocal cords*
- Esophageal
atresia
- Tracheobronchomalacia
- Subglottic
stenosis*
- Laryngomalacia
- Dolicho
and mega colon
- Absence
of gallbladder
- Hepatosplenomegaly
- Involuted
thymus with increased number of Hassall’s corpuscles
- Malrotation
of gut
- Malrotation
of the small bowel
- Malrotation
of the sigmoid and transverse colon
- Malrotated
stomach*
- Splenomegaly
- Supernumerary
spleen
- Inguinal
hernias
- Umbilical
hernias
- Diaphragmatic
hernia
- Pyelonephritis
– (infection of the renal pelvis)
- Intrathyroid
position of the parathyroid glands
BRAIN
- Chiari
malformation *
- Dandy
Walker
malformation
- Malrotated
and vertical hippocampi
- Lateral
ventricular asymmetry and dilatation of the 3rd and 4th
ventricles
- Malformed
hemispheres of the cerebellum with dilation of the subarachnoidal
space
- Cerebellar
dysplasia
- Brain
bleeds/hemorrhage *
- Seizures
- Agenesis
of the corpus callosum *
- Brain
calcifications*
- absence
of the olfactory bulbs and tracts
- Hypoplasia
of the corpus callosum
- Aplasia
of the gyrus cinguli
- Aplasia
of the commissure anterior/posterior
- Hypoplasia
of pons
- Hydrocephaly
- Rotation
of the cerebellar vermis
- Periventricular
cysts on brain *
EYES
- Enopthalmus
- exopthalmos
- Degenerative
changes of the retina
- large,
round
- Epicanthal
folds
- Esotropia
- Antimongoloid
slant of eyes
- Hypertelorism
- micropthalmia
- myopia
- astigmatism
- glaucoma
- cataracts*
- hypoplastic
optic discs*
- coloboma
GENITAL/REPRODUCTIVE
- Micropenis
- undescended
testes
- cryptorchidism
- imperforate
anus
- anal
stenosis
- Hirschsprung’s
disease
- rectoperineal
fistula open to the vaginal orifice
- rectovulvar
fistula
- hypoplasic
uterus
- anus
and vagina too close together
- double
uterus
- double
vagina
- sexual
infantilism
- ambiguous
genetalia
- hypospadias
- underdeveloped
scrotum
- missing
ovary
- no
onset of menses
- hypoplastic
genitalia
- sacral
dimple
KIDNEYS/BLADDER
- Hypoplastic
kidney(s)
- Missing
kidney(s)
- Hydronephrosis
and hydroureter of kidney
- Bilateral
vesicorenal reflux
- Chronic
metabolic acidosis
- Bilateral
megaureter
- Small
bladder
- ureteral
stenosis
- Renal
tubular acidosis*
LIVER
- Agenesis
of the intrahepetic bile ducts
- cirrhosis
- Biliary
cirrhosis
- Extrahepetic
bilary ducts
- Enlarged
liver
SKULL
- Brachycephaly
- Hypercalcified
and deformed occiput
- Short
narrow palpebral fissures
- Turricephaly
- Cranial
asymmetry
- Scaphocephaly
- Flat
occiput
- Frontal
bossing and right parietal prominence
- Microcephaly
- Arhinencephaly
with absence of both olfactory nerves
- Sclerosis
of the skull
- Trigonocephaly
TEETH
- Crowded
- Irregularly
spaced
- Enamel
defects
- Delayed
appearance
- Absence
of adult teeth*
EYES
- ptosis
- Enopthalmus
(recession of eye within the orbit)
- Strabismus
- Optic
nerve atrophy
- Coloboma
- hypertelorism
- myopia
- cataracts
- blindness
- epicanthal
folds
- glaucoma*
MISCELLANEOUS
- right
facial palsy
- low
set nipples
- Webbed
neck
- Thorax
deformities
- Lumbosacral
meningomyelocele
- Excess
nuchal (neck) skin
- Hypoplastic
finger/toe nails
- Anemia
- Hypoglycosis
- Tuberous
sclerosis
- Sacral
coccigeal teratoma, benign*
- GE
Reflux
- Autistic
like behaviour
- Muscular
hypotonia
- Hypertonia
- Cyclic
vomiting * 2 members)
- Hypothyroidism
- suck/swallow
difficulties
Problems
with immune system/low immunity
- recurrent
ear
infections (Chronic Otitis Media, Mastoiditis)
- urinary
tract infections
- recurrent
pneumonia/respiratory infections
- low
immunity requiring treatments
- Gastroenteritis
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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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Rinholm, 7108 Partinwood Drive, Fuquay-Varina, North Carolina, 27526
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