| Adenomatous polyposis of the colon |
| Alagille syndrome (AGS) |
| Alagille-Watson syndrome (AWS) |
| Alport syndrome and diffuse leiomyomatosis |
| Anal atresia, sacral anomalies, presacral mass (ASP) |
| Ancell-Spiegler cylindromas |
| Angio-encephalo-cutaneous syndrome |
| Angio-osteohypertophy syndrome |
| Arteriohepatic dysplasia (AHD) |
| Ataxia telangiectasia |
| Ataxia-telangiectasia, variant VI |
| Autoimmune lymphoproliferative syndrome |
| B-K mole syndrome |
| Bannayan-Riley-Ruvalcaba syndrome |
| Bannayan-Zonana syndrome |
| Beckwith-Wiedemann syndrome |
| Bilateral acoustic neurinoma |
| Bilateral acoustic neurofibromatosis |
| Bilateral acoustic schwannomas |
| Birt-Hogg-Dubé syndrome (BHD) |
| Bloom syndrome |
| Bone dysplasia with malignant fibrous histiocytoma |
| Bone dysplasia with medullary fibrosarcoma |
| Bourneville disease |
| Broad thumb hallux syndrome |
| Brooke-Fordyce trichoepitheliomas |
| Brooke-Spiegler syndrome |
| Bruton's agammaglobulinemia |
| Cardiocutaneous syndrome |
| Carney complex (CNC) |
| Carney triad |
| Carotid body tumors |
| Cartilage-hair hypoplasia (CHH) |
| Central neurofibromatosis |
| Cerebral gigantism |
| Chemodectomas |
| Cholestasis with peripheral pulmonary stenosis |
| Cockayne syndrome |
| Congenital generalized fibromatosis |
| Congenital myofibromatosis |
| Congenital neutropenia |
| Costello syndrome |
| Cowden disease |
| Currarino syndrome |
| Currarino triad |
| Diamond-Blackfan anemia (DBA) |
| Dianzani autoimmune lymphoproliferative disease (DALD) |
| Diaphyseal aclasis |
| Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH) |
| Dubowitz syndrome |
| Dyschondrodysplasia with haemangiomas |
| Dyschondroplasia |
| Dyskeratosis congenita (DKC) |
| Dysplastic Nevus Syndrome (DNS) |
| Dysplastic gangliocytoma of the cerebellum |
| Dysplastic nevus syndrome (DNS) |
| Eczema-thrombocytopenia-immunodeficiency syndrome |
| Elattoproteus syndrome |
| Elephant man syndrome |
| Encephalocraniocutaneous lipomatosis |
| Encephalotrigeminal angiomatosis |
| Enchondromatosis |
| Enchondromatosis with multiple cavernous haemangiomas |
| Epidermodysplasia verruciformis |
| Epiloia |
| Exomphalos-macroglossia-gigantism triad |
| Familial /sporadic gastrointestinal stromal tumors (GISTs) |
| Familial adenomatous polyposis (FAP) |
| Familial atypical mole-malignant melanoma syndrome (FAMMM) |
| Familial atypical multiple mole melanoma syndrome (FAMMM) |
| Familial chronic lymphocytic leukaemia |
| Familial clear cell renal cancer |
| Familial cylindromatosis |
| Familial glomus tumors |
| Familial hepatic adenomas |
| Familial infiltrative fibromatosis. |
| Familial leukemia or MDS associated with monosomy 7 |
| Familial liver adenomatosis |
| Familial melanoma |
| Familial monosomy 7 syndrome |
| Familial nervous system tumour syndromes |
| Familial nonchromaffin paragangliomas |
| Familial pancreatic cancer |
| Familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML) |
| Familial platelet disorder with predisposition to myeloid malignancy |
| Familial prostate cancer |
| Familial tylosis |
| Familiar breast-ovarian cancer |
| Fanconi anaemia |
| Fanconi pancytopenia |
| Ferguson-Smith disease |
| Fifth phacomatosis |
| Focal non epidermolytic palmoplantar keratoderma (NEPPK) with carcinoma of the oesophagus |
| Frasier syndrome (FS) |
| Gardner syndrome |
| Generalized lentiginosis |
| Gigantism |
| Glomangioma |
| Glomus jugulare tumors |
| Glomuvenous malformation (GVM) |
| Gorlin syndrome |
| Gorlin syndrome (not to be confused with the Gorlin-Goltz/naevoid basal cell carcinoma syndrome) |
| Gorlin-Goltz syndrome |
| Haemangiomatosis chondrodystrophica |
| Hemangiopericytoma |
| Hemihyperplasia isolated |
| Hepatic ductular paucity, syndromatic |
| Hereditary bone dysplasia with malignant change |
| Hereditary breast cancer |
| Hereditary desmoid disease. |
| Hereditary diffuse gastric cancer (HDGC) |
| Hereditary leiomyomatosis and renal cell cancer (HLRCC) |
| Hereditary multiple cutaneous leiomyomatosis |
| Hereditary multiple exostosis (HME) |
| Hereditary non polyposis colorectal carcinoma (HNPCC Syndrome) |
| Hereditary pancreatic cancer |
| Hereditary papillary renal cell carcinoma |
| Hereditary paraganglioma (PGL) |
| Hereditary prostate cancer |
| Hirschsprung disease with pigmentary anomaly (WS4) |
| Holoprosencephaly-diencephalic hamartoblastoma (HDH). |
| Holoprosencephaly-diencephalic hamartoblastoma association, Holoprosencephaly-hypothalamic hamartoblastoma, Holoprosencephaly-diencephalic hamartoma |
| Howell-Evans syndromes |
| Hoyeraal Hreidarsson syndrome |
| Hydrocephalus, costovertebral dysplasia, sprengel anomaly |
| Hyperparathyroidism-Jaw tumor syndrome (HPT-JT) |
| Ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature syndrome (IBIDS) |
| Immunodeficiency, microcephaly, chromosomal instability |
| Infantile myofibromatosis |
| Isolated hemihypertrophy |
| Kast syndrome |
| Klein-Waardenburg syndrome (WS3) |
| Klippel Trenaunay syndrome |
| Kostmann syndrome |
| LEOPARD syndrome |
| Levandowsky-Lutz syndrome |
| Lhermitte-Duclos disease |
| Li-Fraumeni syndrome |
| Louis-Bar syndrome |
| Lynch syndrome |
| MUTYH associated polyposis |
| MUTYH-Associated Polyposis (MAP) |
| MVA |
| MYH associated polyposis |
| Macrocephaly, multiple lipomas, hemangiomata |
| Macrocephaly, pseudopapilledema, multiple hemangiomata |
| Maffucci syndrome |
| Male Turner syndrome |
| Malignant tumors of the central nervous system associated with familial polyposis of the colon |
| McCune Albright syndrome |
| Melanoma and neural system tumour syndrome |
| Melanoma-Astrocytoma syndrome |
| Mesenchymal hamartomatosis |
| Metaphyseal chondrodysplasia, McKusick type |
| Microcephaly with normal intelligence, immunodeficiency, lymphoreticular malignancies |
| Mosaic variegated aneuploidy syndrome |
| Multiple angiomas and endochondromas |
| Multiple basal cell nevi, odontogenic keratocysts, skeletal anomalies |
| Multiple cartilaginous enchondroses |
| Multiple cartlaginous exostoses |
| Multiple chondromatosis |
| Multiple cutaneous and uterine leiomyomatosis (MCUL) |
| Multiple enchondromatosis |
| Multiple enchondromatosis |
| Multiple endocrine neoplasia type 1 (MEN1) |
| Multiple endocrine neoplasia type 2 (MEN2) |
| Multiple familial trichoepitheliomas |
| Multiple glomus tumor |
| Multiple hamartoma syndrome |
| Multiple hereditary exostoses (MHE) |
| Multiple hereditary osteochondromatosis |
| Multiple osteochondromas (MO) |
| Multiple self-healing squamous epithelioma |
| Multiple-lentigines syndrome |
| Naevoid basal cell carcinoma syndrome (NBCS) |
| Neurofibromatosis type 1 (NF1) |
| Neurofibromatosis type 2 (NF2) |
| Nijmegen breakage syndrome |
| Noonan syndrome |
| Noonan-like syndrome with nasal papillomata |
| Ollier disease |
| Pallister Hall syndrome (PHS) |
| Peripheral neurofibromatosis |
| Perlman syndrome (renal hamartomas, nephroblastomatosis and fetal gigantism) |
| Peutz-Jeghers syndrome |
| Piebaldism |
| Poikiloderma atrophicans and cataract |
| Porokeratosis of Mibelli |
| Prader Willi syndrome |
| Progressive cardiomyopathic lentiginosis |
| Proteus syndrome |
| Pseudo-Turner syndrome |
| Retinoblastoma |
| Rhabdoid predisposition syndrome |
| Riley-Smith syndrome |
| Rombo syndrome |
| Rothmund-Thomson syndrome (RTS) |
| Rubinstein-Taybi syndrome (RTS) |
| Ruvalcaba-Myhre-Smith syndrome |
| Sacral defect with anterior meningocoele |
| Schinzel-Giedion midface retraction syndrome |
| Schinzel-Giedion syndrome |
| Schwannomatosis |
| Seemanova syndrome II |
| Severe chronic neutropenia (SCN) |
| Shan-Waardenburg syndrome (WS4) |
| Shwachman-Diamond syndrome (SDS) |
| Signet ring carcinoma or isolated cell type carcinoma. |
| Silver Russell syndrome |
| Simpson-Golabi-Behmel syndrome |
| Sipple syndrome |
| Site-specific breast cancer |
| Sotos syndrome (SOS) |
| Stiff-man syndrome |
| Stiff-person syndrome |
| Sturge Weber syndrome |
| Trichothiodystrophy (TTD) |
| Tuberous sclerosis (TSC) |
| Turban tumor syndrome |
| Turcot syndrome |
| Tylosis oesophageal cancer |
| Variegated aneuploidy related to premature centromere division (PCD) |
| Vascular leiomyoma of the newborn |
| Von Hippel-Lindau |
| Von Recklinghausen neurofibromatosis |
| WAGR (Wilms' tumor/aniridia/genitourinary anomalies/mental retardation syndrome) |
| Waardenburg syndrome (WS) |
| Waardenburg syndrome variant (WS4) |
| Waardenburg syndrome with upper limb anomalies (WS3) |
| Waardenburg-Hirschsprung disease (WS4) |
| Weaver syndrome |
| Wermer's syndrome |
| Werner syndrome |
| White forelock with malformations (WS3) |
| Wiskott-Aldrich Syndrome (WAS) |
| X-linked agammaglobulinemia (XLA) |
| Xeroderma pigmentosum |
| Zinsser Cole Engeman syndrome |
| venous malformation with glomus cells (VMGLOM) |