Inheritance: autosomal dominant
Genetic cause: possibly mutations in NOTCH2 (at exon 34)
Cranial and facial features:
(1) dolichocephaly
(2) wide-set eyes
(3) coarse hair
(4) low hair line
(5) thick eyebrows
(6) epicanthic folds
(7) beaked nose with anteverted nostrils
(8) long philtrum
(9) wide mouth
(10) narrow palate
(11) hypoplastic lower jaw
(12) premature tooth loss
(13) low set ears
Skeletal features:
(1) short stature
(2) generalized joint laxity with dislocations
(3) acro-osteolysis
(4) generalized osteoporosis with fractures and vertebral collapse
(5) foot deformities (valgus, varus)
(6) multiple wormian bones in the skull
Other findings may include:
(1) impaired hearing
(2) generalized hirsutism
(3) polycystic kidneys
(4) variable mental retardation
(5) variable hydrocephalus
