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11p15.4 microduplication syndrome
15q overgrowth syndrome +
4p16.3 microduplication syndrome
abdominal wall malformation +
absence of fingerprints-congenital milia syndrome
acrokeratosis verruciformis
Acroosteolysis dominant type
ADAR-related type 1 interferonopathy +
Aicardi-Goutieres syndrome +
AKT3-related overgrowth spectrum +
albinism-hearing loss syndrome
angioosteohypertrophic syndrome
ankyloblepharon filiforme-imperforate anus syndrome
aplasia cutis congenita +
arterial tortuosity syndrome
ATM-related cancer predisposition
autoimmune interstitial lung disease-arthritis syndrome
autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
autoinflammatory disease, multisystem, with immune dysregulation, X-linked
autoinflammatory disease, systemic, with vasculitis
autoinflammatory disease, X-linked
autoinflammatory syndrome with immunodeficiency
autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
autoinflammatory syndrome, familial, Behcet-like +
autosomal dominant vibratory urticaria
autosomal recessive cutis laxa type 2A +
autosomal recessive inherited pseudoxanthoma elasticum
autosomal systemic lupus erythematosus type 16
Bannayan-Riley-Ruvalcaba syndrome
BAP1-related tumor predisposition syndrome
basal cell carcinoma, susceptibility to, 7
Beckwith-Wiedemann syndrome +
benign neoplasm of skin +
Benign Skin Appendage Neoplasm
blindness - scoliosis - arachnodactyly syndrome
body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
bone fragility with contractures, arterial rupture, and deafness
BRCA1-related cancer predisposition +
BRCA2-related cancer predisposition +
Brooke-Spiegler syndrome +
calcifying epithelial odontogenic tumor
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
Carney-Stratakis syndrome
cavernous sinus meningioma
CDH1-related diffuse gastric and lobular breast cancer syndrome
central nervous system malformation +
CHEK2-related cancer predisposition
chronic mucocutaneous candidiasis +
chronic myelogenous leukemia +
chronic recurrent multifocal osteomyelitis +
colorectal cancer, susceptibility to, 1
colorectal cancer, susceptibility to, 10
colorectal cancer, susceptibility to, 12
colorectal cancer, susceptibility to, 3
combined immunodeficiency with skin granulomas
common variable immunodeficiency +
congenital anomaly of kidney and urinary tract +
congenital isolated hyperinsulinism +
congenital limb malformation +
congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
Cutaneous Follicular Lymphoma
cutis laxa - Marfanoid syndrome
cysts and fistulae of the face and oral cavity +
DDX41-related hematologic malignancy predisposition syndrome
deficiency of adenosine deaminase 2 +
dermatitis herpetiformis, familial
dermatofibrosarcoma protuberans
dermatosis papulosa nigra
Desmoid-type fibromatosis +
developmental anomaly of metabolic origin +
developmental defect of the eye +
diaphyseal medullary stenosis-bone malignancy syndrome
digestive tract malformation +
disorder of sexual differentiation +
DK1-congenital disorder of glycosylation
dyschromatosis universalis hereditaria +
ectodermal dysplasia syndrome +
Ehlers-Danlos syndrome, kyphoscoliotic type 1
EMILIN-1-related connective tissue disease
encephalocraniocutaneous lipomatosis
epidermal appendage tumor +
epidermodysplasia verruciformis +
epithelial skin neoplasm +
erythroleukemia, familial, susceptibility to
familial acanthosis nigricans
familial atypical multiple mole melanoma syndrome
familial chilblain lupus +
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
familial Dupuytren contracture
familial isolated hyperparathyroidism +
familial isolated pituitary adenoma +
familial multiple fibrofolliculoma
familial multiple nevi flammei
familial pityriasis rubra pilaris
familial primary localized cutaneous amyloidosis +
familial rhabdoid tumor +
follicular lymphoma, susceptibility to, 1
generalized basaloid follicular hamartoma syndrome
global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
goiter, multinodular 1, with or without Sertoli-Leydig cell tumors
hemangiopericytoma of skin
hemihyperplasia-multiple lipomatosis syndrome
hereditary breast ovarian cancer syndrome
hereditary hemorrhagic telangiectasia +
hereditary leiomyomatosis and renal cell cancer
hereditary lipodystrophy +
hereditary mucoepithelial dysplasia
hereditary mucosal leukokeratosis +
hereditary multiple osteochondromas +
hereditary neurocutaneous angioma
hereditary nonpolyposis colon cancer +
hereditary palmoplantar keratoderma +
hereditary papulotranslucent acrokeratoderma
hereditary periodic fever syndrome +
hereditary photodermatosis +
hereditary retinoblastoma
hereditary sclerosing poikiloderma with tendon and pulmonary involvement
hereditary thrombocytopenia and hematologic cancer predisposition syndrome +
hyperkeratosis-hyperpigmentation syndrome
hyperparathyroidism 2 with jaw tumors
hyperpigmentation with or without hypopigmentation, familial progressive +
hypoinsulinemic hypoglycemia and body hemihypertrophy
idiopathic juvenile osteoporosis
IFIH1-related type 1 interferonopathy +
immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome +
infantile myofibromatosis +
infectious embryofetopathy +
inflammatory poikiloderma with hair abnormalities and acral keratoses
inherited acute myeloid leukemia
inherited epidermolysis bullosa +
intestinal polyposis syndrome +
isolated anhidrosis with normal sweat glands
isolated congenital adermatoglyphia
isolated hyperchlorhidrosis
joint laxity, short stature, and myopia
jugulotympanic paraganglioma +
juvenile hyaline fibromatosis
Kaposi sarcoma, susceptibility to
keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
keratosis pilaris atrophicans +
large congenital melanocytic nevus
lethal Larsen-like syndrome
leukemia, acute lymphoblastic, susceptibility to, 3
leukemia, acute myeloid, susceptibility to
lichen sclerosus et atrophicus +
linear nevus sebaceous syndrome
linear skin defects with multiple congenital anomalies
Maffucci syndrome Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.
Malan overgrowth syndrome
malignant atrophic papulosis
Malignant Jugulotympanic Paraganglioma
Marfan and Marfan-related disorder +
marfanoid habitus-inguinal hernia-advanced bone age syndrome
melanocytic skin neoplasm +
mismatch repair cancer syndrome 1
mosaic variegated aneuploidy syndrome +
multiple benign circumferential skin creases on limbs 1
multiple congenital anomalies/dysmorphic syndrome +
multiple endocrine neoplasia +
multiple epiphyseal dysplasia due to collagen 9 anomaly +
multiple self-healing squamous epithelioma
multiple symmetric lipomatosis
nasopharyngeal carcinoma, susceptibility to, 1
neonatal inflammatory skin and bowel disease +
neonatal severe primary hyperparathyroidism
neuroblastoma, susceptibility to, 1
neuroblastoma, susceptibility to, 2
neuroblastoma, susceptibility to, 3
neurocutaneous melanocytosis
neurofibromatosis type 1 +
neurofibromatosis-Noonan syndrome +
nevoid basal cell carcinoma syndrome
nevus comedonicus syndrome
oculocutaneous albinism +
orbit embryonal rhabdomyosarcoma
ossification of the posterior longitudinal ligament of the spine
osteopathia striata-pigmentary dermopathy-white forelock syndrome
PALB2-related cancer predisposition
Pelger-Huet-like anomaly and episodic fever with abdominal pain
phakomatosis pigmentokeratotica
phakomatosis pigmentovascularis +
PIK3CA-related overgrowth spectrum +
PIK3CA-related overgrowth syndrome
poikiloderma with neutropenia
progeroid and marfanoid aspect-lipodystrophy syndrome
progeroid features-hepatocellular carcinoma predisposition syndrome
progressive osseous heteroplasia
proteosome-associated autoinflammatory syndrome +
pseudodiastrophic dysplasia
PTEN hamartoma tumor syndrome +
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
pyogenic arthritis-pyoderma gangrenosum-acne syndrome
reticulate pigment disorder +
RNU7-1-related type 1 interferonopathy +
Rothmund-Thomson syndrome +
scalp defects-postaxial polydactyly syndrome
seborrhea-like dermatitis with psoriasiform elements
segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
Simpson-Golabi-Behmel syndrome +
Singleton-Merten dysplasia +
Skin Cavernous Hemangioma
spinocerebellar ataxia type 34
Spondyloenchondrodysplasia with immune dysregulation
STING-associated vasculopathy with onset in infancy
Subcutaneous Panniculitis-Like T-Cell Lymphoma
susceptibility to familial cutaneous melanoma +
susceptibility to uveal melanoma
syndromic oculocutaneous albinism +
toxic or drug-related embryofetopathy +
TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations +
TREX1-related type 1 interferonopathy +
trichohepatoenteric syndrome
tumor predisposition syndrome 2
urogenital tract malformation +
vasculitis, lymphocytic, nodular
X-linked chondrodysplasia punctata 2
X-linked reticulate pigmentary disorder
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