Acondroplasia
Achondroplasia; ACH

Artrogripose
Freeman-Sheldon Syndrome; FSS
Arthrogryposis, Distal, Type 2b; Da2b
Síndrome de Guerin-Stern

Disautonomia Familiar
Dysautonomia Familial
Riley-Day Syndrome

Epidermólise Bolhosa
Dystrophic Epidermolysis Bullosa
Epidermolysis Bullosa

Hemipertrofia
Hemihypertrophy
Hemihyperplasia

Osteogênese Imperfeita
Osteogenesis Imperfecta Congenita; OIC

Progeria
Progeria Syndrome
Hutchinson-Gilford Progeria Syndrome; HGPS

Síndrome de Down
Trissomia do 21
Down Syndrome

Síndrome de Edwards
Trisomy 18
Edwards syndrome

Síndrome de Klippel-Feil
Klippel-Feil Syndrome

Síndrome de Lange
Cornelia de Lange Syndrome; CD
Brachmann-de Lange Syndrome; BDLS

Síndrome de Patau
Trisomy 13

Síndrome de Prader-Willi
Prader-Willi Syndrome; PWS

Síndrome de Prune Belly
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness

Síndrome de Rubinstein-Taybi
Rubinstein-Taybi Syndrome; RSTS

Síndrome de Seckel
Seckel syndrome
Mitocondrial syndrome

Síndrome de Smith-Lemli-Opitz
Smith-Lemli-Opitz Syndrome; SLOS

 Displasia Epifisiária Múltipla
Síndrome de Ribbing-Fairbank
Epiphyseal Dysplasia, Multiple, 1; EDM1