Title Atlas Review See Last Papers
Alagille syndrome (AGS)Open Pubmed
Alport syndrome and diffuse leiomyomatosisOpen Pubmed
Autoimmune lymphoproliferative syndromeOpen Pubmed
Bloom syndromeOpen Pubmed
Bannayan-Riley-Ruvalcaba syndromeOpen Pubmed
Bazex-Dupré-Christol syndrome (BDCS)Open Pubmed
Beckwith-Wiedemann syndromeOpen Pubmed
Birt-Hogg-Dubé syndrome (BHDS)Open Pubmed
Brooke-Spiegler syndromeOpen Pubmed
Brutons agammaglobulinemiaOpen Pubmed
Carney complex (CNC)Open Pubmed
Carney triadOpen Pubmed
Cartilage-hair hypoplasia (CHH)Open Pubmed
Chediak-Higashi SyndromeOpen Pubmed
Cockayne syndromeOpen Pubmed
Congenital myofibromatosisOpen Pubmed
Congenital neutropeniaOpen Pubmed
Costello syndromeOpen Pubmed
Cowden diseaseOpen Pubmed
Currarino syndromeOpen Pubmed
Dubowitz syndromeOpen Pubmed
De Sanctis-Cacchione SyndromeOpen Pubmed
Denys-Drash syndrome (DDS)Open Pubmed
Diamond-Blackfan anemia (DBA)Open Pubmed
Dianzani autoimmune lymphoproliferative disease (DALD)Open Pubmed
Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH)Open Pubmed
Down syndromeOpen Pubmed
Dyskeratosis congenita (DKC)Open Pubmed
Dysplastic nevus syndrome (DNS)Open Pubmed
EnchondromatosisOpen Pubmed
Fanconi anemiaOpen Pubmed
Familial clear cell renal cancerOpen Pubmed
Familial Juvenile Polyposis SyndromeOpen Pubmed
Familial liver adenomatosisOpen Pubmed
Familial Myeloproliferative DisordersOpen Pubmed
Familial platelet disorder with predisposition to acute myelogenous leukemiaOpen Pubmed
Familial tylosisOpen Pubmed
Familial monosomy 7 syndromeOpen Pubmed
Familial nervous system tumour syndromesOpen Pubmed
Familial chronic lymphocytic leukaemiaOpen Pubmed
Familial gliomaOpen Pubmed
Familial melanomaOpen Pubmed
Frasier syndrome (FS)Open Pubmed
Familial \/sporadic gastrointestinal stromal tumors (GISTs)Open Pubmed
Glomuvenous malformation (GVM)Open Pubmed
Glycogen storage disease type I (GSD I)Open Pubmed
Lynch SyndromeOpen Pubmed
Hemihyperplasia isolatedOpen Pubmed
Hereditary breast cancerOpen Pubmed
Hereditary multiple cutaneous leiomyomatosisOpen Pubmed
Multiple osteochondromas (MO)Open Pubmed
Hereditary pancreatic cancerOpen Pubmed
Hereditary paraganglioma (PGL)Open Pubmed
Hereditary prostate cancerOpen Pubmed
Hereditary desmoid disease.Open Pubmed
Hereditary diffuse gastric cancer (HDGC)Open Pubmed
Holoprosencephaly-diencephalic hamartoblastoma (HDH).Open Pubmed
Hyperparathyroidism-Jaw tumor syndrome (HPT-JT)Open Pubmed
Klippel Trenaunay syndromeOpen Pubmed
LEOPARD syndromeOpen Pubmed
Lhermitte-Duclos diseaseOpen Pubmed
Li-Fraumeni syndromeOpen Pubmed
MUTYH-Associated Polyposis (MAP)Open Pubmed
Multiple endocrine neoplasia type 1 (MEN1)Open Pubmed
Multiple endocrine neoplasia type 2 (MEN2)Open Pubmed
Mosaic variegated aneuploidy syndromeOpen Pubmed
MUTYH associated polyposisOpen Pubmed
Maffucci syndromeOpen Pubmed
McCune Albright syndromeOpen Pubmed
Melanoma-Astrocytoma syndromeOpen Pubmed
Mulibrey nanismOpen Pubmed
Multiple self-healing squamous epitheliomaOpen Pubmed
Naevoid basal cell carcinoma syndrome (NBCS)Open Pubmed
Neurofibromatosis type 1 (NF1)Open Pubmed
Neurofibromatosis type 2 (NF2)Open Pubmed
Nijmegen breakage syndromeOpen Pubmed
Noonan syndromeOpen Pubmed
Oculocutaneous AlbinismOpen Pubmed
Ollier diseaseOpen Pubmed
Pagets disease of boneOpen Pubmed
Pallister Hall syndrome (PHS)Open Pubmed
Perlman syndrome (renal hamartomas, nephroblastomatosis and fetal gigantism)Open Pubmed
Peutz-Jeghers syndromeOpen Pubmed
Porokeratosis of MibelliOpen Pubmed
Prader Willi syndromeOpen Pubmed
Proteus syndromeOpen Pubmed
Retinoblastoma (hereditary predisposition)Open Pubmed
Rombo syndromeOpen Pubmed
Rothmund-Thomson syndrome (RTS)Open Pubmed
Rubinstein-Taybi syndrome (RTS)Open Pubmed
Schinzel-Giedion midface retraction syndromeOpen Pubmed
Schöpf-Schulz-Passarge syndrome (SSPS)Open Pubmed
SchwannomatosisOpen Pubmed
Shwachman-Diamond syndrome (SDS)Open Pubmed
Silver Russell syndromeOpen Pubmed
Simpson-Golabi-Behmel syndromeOpen Pubmed
Sotos syndrome (SOS)Open Pubmed
Stiff-person syndromeOpen Pubmed
Sturge Weber syndromeOpen Pubmed
Trichothiodystrophy (TTD)Open Pubmed
Tuberous sclerosis (TSC)Open Pubmed
Turcot syndromeOpen Pubmed
Von Hippel-LindauOpen Pubmed
Variegated aneuploidy related to premature centromere division (PCD)Open Pubmed
WAGR (Wilms tumor\/aniridia\/genitourinary anomalies\/mental retardation syndrome)Open Pubmed
Waardenburg syndrome (WS)Open Pubmed
Weaver syndromeOpen Pubmed
Werner syndromeOpen Pubmed
Wiskott-Aldrich Syndrome (WAS)Open Pubmed
Xeroderma pigmentosumOpen Pubmed
X-linked thrombocytopenia (THC1\/XLT)Open Pubmed
X-linked lymphoproliferative disease (XLP)Open Pubmed
Familial adenomatous polyposis (FAP)Open Pubmed
Ataxia telangiectasia (A-T)Open Pubmed
Epidermodysplasia verruciformisOpen Pubmed
Hereditary papillary renal cell carcinomaOpen Pubmed
PiebaldismOpen Pubmed
Rhabdoid predisposition syndromeOpen Pubmed
Bloom syndromeOpen Pubmed