tetrasomy 12p
MIM.601803
Pallister-Killian syndrome
Pallister-Killian syndrome is a dysmorphic condition caused by mosaicism for tetrasomy of 12p.
Synopsis
- prominent forehead
- coarse facial features over time
- full cheeks
- long philtrum
- micrognathia
auditory anomalies (deafness)
- large ears
- protruding lobules
- external auditory canal stenosis
ocular anomalies
- sparse eyebrows
- sparse eyelashes
- upslanting palpebral fissures
- hypertelorism
- ptosis
- strabismus
- epicanthal folds
- cataracts
- exophthalmos
nasal anomalies
- flat, broad nasal root
- short nose
- anteverted nostrils
bucaal anomalies
- thin upper lip
- ?cupid-bow? lip
- protruding lower lip
- macroglossia
- prominent lateral palatine ridges
- cleft palate
- bifid uvula
dental anomalies
- delayed dental eruption
Neck
- short neck
- webbed neck
cardiac anomalies
- pericardial agenesis
- aortic stenosis
- patent ductus arteriosus
- septal defects
- hypertrophic cardiomyopathy
pulmonary hypoplasia
accessory nipples
diaphragmatic hernia
umbilical hernia
omphalocele
digestive anomalies
- intestinal malrotation
- imperforate anus
- anal atresia
- anal stenosis
- anteriorly placed anus
genital anomalies
- persistence of urogenital sinus/cloaca
- inguinal hernia
- small scrotum
- hypospadias
- hypoplasia of labia majora
- cryptorchidism
- absent upper vagina
- absent uterus
renal anomalies
- cystic kidneys
- renal dysplasia (dysplastic kidneys)
skeletal anomalies and limb anomalies
- kyphoscoliosis
- sacral appendage
- congenital hip dislocation
- hypermobile joints
- mesomelic/rhizomelic limb shortening
- broad hands
- fifth finger clinodactyly
- short fingers
- distal digital hypoplasia
- postaxial polydactyly
- transverse palmar creases
- broad feet
- postaxial polydactyly
- short toes
cutaneous anomalies
- hypopigmented streaks
- hyperpigmented streaks
- transverse palmar creases
- sparse anterior scalp hair
- sparse eyebrows
- sparse eyelashes
cerebral anomalies
- profound mental retardation
- seizures
- hypotonia (newborn)
- hypertonia (older children and adolescents)
- contractures (older children and adolescents)
Etiology
mosaic tetrasomy 12p in skin fibroblasts
isochromosome often missing in lymphocyte
References
