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

• micropenis
• testicular hypoplasia
• renal dysplasia
• renal ectopia

 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)