Inheritance: autosomal dominant
Chromosome location: 3p14.3
Possible candidate genes: CACNA2D3, LRTM1, WNT5A or ERC2
Relatively common clinical features of the Zimmerman-Laband syndrome:
(1) gingival hyperplasia (gingival fibromatosis)
(2) hypertrichosis
(3) large ears
(4) hypertrophy of the ears (large and floppy)
(5) large facial bones
(6) large mandible
(7) large protruding upper lip
(8) abnormal digits (enlarged, absence or hypoplasia of nails, absence of terminal phalanges, polydactyly)
(9) strabismus
(10) enlarged phallus
(11) variable mental retardation
(12) joint hyperextensibility
(13) variable hepatosplenomegaly
(14) variable structural defects in vertebrae
(15) variable hemihyperplasia
