- Alagille syndrome
- Antley-Bixler Syndrome (ABS)
- Axenfeld-Rieger Syndrome
- Bannayan-Riley-Ruvalcaba Syndrome
- Baraitser-Winter Syndrome
- Branchiootic Syndrome
- Branchiootorenal syndrome
- Campomelic Dysplasia (CD)
- Cardio-Facio-Cutaneous Syndrome
- CHARGE Syndrome
- Cherubism
- Chondrodysplasia Punctata (CDPX1)
- Clefting Syndrome
- Coffin-Lowry Syndrome (CLS)
- Cohen Syndrome
- Costello Syndrome
- Cowden Syndrome
- Craniofrontonasal syndrome
- Cutis Laxa, Autosomal Dominant
- Cytochrome P450 Oxidoreductase (POR) Deficiency
- DiGeorge syndrome
- Ectodermal Dysplasia
- Ectrodactyly
- Feingold Syndrome
- Greig Cephalopolysyndactyly Syndrome
- Hay-Wells Syndrome
- Holoprosencephaly
- HOXD13-Associated Limb Abnormalities
- Hypo-/Anhidrotic Ectodermal Dysplasia
- Kabuki syndrome (KS)
- Kallmann Syndrome
- Legius Syndrome
- LEOPARD Syndrome
- Metachondromatosis
- Microphthalmia, Lenz Syndrome
- Noonan Syndrome
- Noonan-Like Syndrome
- Oculo Facio Cardio Dental Syndrome
- Oral-Facial-Digital syndrome Type 1
- Pallister Hall syndrome (PHS)
- Popliteal Pterygium Syndrome
- Prader-Willi syndrome (PWS)
- Prolidase Deficiency
- Proteus Syndrome/Proteus-like Syndrome
- PTEN associated Macrocephaly/Autism Syndrome
- Rieger Syndrome
- Rubinstein-Taybi Syndrome (RSTS)
- Simpson-Golabi-Behmel Syndrome (SGBS)
- Smith-Magenis Syndrome (SMS)
- Sotos Syndrome
- Split Hand - Split Foot Malformation
- Supravalvular Aortic Stenosis
- Treacher Collins Syndrome (TCS)
- Triphalangeal Thumb Polydactyly
- Van der Woude Syndrome
- Velocardiofacial syndrome
- Williams-Beuren syndrome