Chromosome 22 trisomy mosaic
Overview
Chromosome 22 trisomy mosaic: A rare chromosomal disorder where three copies of chromosome 22 are present in some of the body's cells instead of the normal two. Severity of symptoms is determined by how many cells have the extra chromosomal material.
Symptoms
The list of signs and symptoms mentioned in various sources for Chromosome 22 trisomy mosaic includes the 79 symptoms listed below: * Small head * Abnormal ears * Webbed neck * Cardiac abnormalities * Long fingers * Kidney problems * Missing kidneys * Extra kidney * Underdeveloped kidney * Growth retardation * Short limbs * Mental delay * Hemidystrophy * Drooping eyelids * Elbow formation * Abnormal fingernails * Abnormal toenails * Missing fingernails * Missing toenails * Absent ovaries * Absent fallopian tubes * Undeveloped testes * Undeveloped ovaries * Failure to thrive * Mental retardation * Anemia * Mongolian spots over spine and buttocks * Small jaw * Low hairline at back of neck * Notched upper front teeth * Dental anomalies * Clinodactyly * Syndactyly * Drooping upper eyelid * Webbed neck * Brachycephaly * Widely spaced eyes * Downslanting eyes * Upslanting eyes * Strabismus * Scalloped iris * Facial swelling * Hypoplastic labia majora * Prominent forehead * Midface hypoplasia * Flat nasal bridge * Short nose * Small nose * Synophrys * Preauricular pits * Elbow dimples * Faint palmar flexion creases * Ear pits * Ear tags * Heart defects * Long philtrum * Protruding upper lip * Down turned mouth corners * Broad hands * Broad feet * Hearing impairment * Cleft palate * Camptodactyly * Tapered fingers * Hallus valgus * Clubbed foot * Nephrosis * Renal anomaly * Small scrotal sacs * Anal atresia * Intestinal malrotation * Dysphagia * Widely spaced nipples * Multiple moles * Multiple birthmarks * Chronic pyelenephritis * Cleft tongue * Posterior displacement of tongue * Absence of corpus callosum
Causes
* Abnormal ears * Anemia * Broad feet * Broad hands * Camptodactyly * Cardiac abnormalities * Chronic pyelenephritis * Cleft palate * Clinodactyly * Clubbed foot * Downslanting eyes * Drooping eyelids * Drooping upper eyelid * Dysphagia * Facial swelling * Failure to thrive * Flat nasal bridge * Growth retardation * Hearing impairment * Heart defects * Kidney problems * Long fingers * Long philtrum * Low hairline at back of neck * Mental retardation * Prominent forehead * Short nose * Small head * Small jaw * Small nose * Strabismus * Syndactyly * Tapered fingers * Webbed neck * Webbed neck * Widely spaced eyes * Widely spaced nipples
Diagnosis
These home medical tests may be relevant to Chromosome 22 trisomy mosaic: * Cold & Flu: Home Testing: -> Home Fever Tests -> Home Ear Infection Tests -> Home Flu Tests