Categories:
(1) associated with a systemic or multisystemic dysmorphic syndrome
(2) not associated with systemic disorder
Associated with systemic disorder:
(1) trisomy (21, 13-15, 16-18)
(2) Turner syndrome
(3) deletion of chromosome 5
(4) Conradi-Hunermann syndrome (with skeletal disease)
(5) rhizomelic chondrodysplasia punctata (with skeletal disease)
(6) Stickler syndrome (with skeletal disease)
(7) Camfak syndrome (with skeletal disease)
(8) Rubinstein-Taybi syndrome (with digital deformity)
(9) Ellis-van Creveld syndrome (with digital deformity)
(10) Bardet-Biedl syndrome (with digital deformity)
(11) cerebro-ocular-facial-skeletal syndrome (with CNS disorder)
(12) Martsolf syndrome (with CNS disorder)
(13) Zellweger syndrome (with CNS disorder)
(14) Marinesco-Sjogren syndrome (with CNS disorder)
(15) Smith-Lemli-Opitz syndrome (with CNS disorder)
(16) Norrie’s disease (with CNS disorder)
(17) myotonic dystrophy, cataract, lactic acidosis and cardiomyopathy
(18) Lowe’s syndrome (with kidney disease)
(19) Alport’s syndrome (with kidney disease)
(20) Hallerman-Streiff syndrome (with mandibulo-facial disorder)
(21) Nance-Horan cataract dental syndrome (with mandibulo-facial disorder)
(22) ichthyosis follucularis, alopecia, photophobia (IFAP, with skin disorder)
(23) Schafer syndrome (with skin disorder)
(24) Siemen’s syndrome (with skin disorder)
(25) incontinentia pigmenti (with skin disorder)
Not associated with a systemic disorder:
(1) autosomal recessive
(2) autosomal dominent
(3) X-linked recessive
