Home > D. General pathology > Genetic and developmental anomalies > Pallister-Hall syndrome
Pallister-Hall syndrome
MIM.146510 7p13
Wednesday 2 March 2005
Autosomal dominant disease. Most cases are sporadic.
Synopsis
systemic anomalies
- intrauterine growth retardation
- neonatal death
craniofacial anomalies
- simple auricles
- absent external auditory canals
- microtia
- posteriorly rotated ears
- microphthalmia
- short nose
- flat nasal bridge
- anteverted nares
- multiple buccal frenula
- microglossia
- cleft lip and palate
- teeth
- natal teeth
cardiovascular anomalies
- ventricular septal defect
- patent ductus arteriosus
- proximal aortic coarctation
respiratory system anomalies
- laryngeal cleft
- bifid or hypoplastic epiglottis
- abnormal lung lobation
thoracic anomalies
- fused ribs
abdominal anomalies
- imperforate anus
genitourinary system
spinal anomalies
- hemivertebrae
limb anomalies
- dislocated hips
- distal shortening of limbs
- radial subluxation
- postaxial polydactyly
- oligodactyly
- short 4th metacarpals
- syndactyly
- postaxial polydactyly
midline facial capillary hemangioma
nail dysplasia
cerebral anomalies
- holoprosencephaly
- hypothalamic hamartoblastoma
- pituitary aplasia or dysplasia
endocrine anomalies
- panhypopituitarism
- adrenal gland hypoplasia
- thyroid dysplasia/aplasia
Etiology
mutations of GLI-Kruppel family member 3 gene GLI3 gene (MIM.165240)