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absence of fingerprints-congenital milia syndrome
acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
acrokeratosis verruciformis
Acroosteolysis dominant type
ADAR-related type 1 interferonopathy +
adult-onset Still's disease
Aicardi-Goutieres syndrome +
albinism-hearing loss syndrome
aplasia cutis congenita +
arterial tortuosity syndrome
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 of childhood +
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 early-onset inflammatory bowel disease
autosomal recessive inherited pseudoxanthoma elasticum
autosomal systemic lupus erythematosus type 16
body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
bone fragility with contractures, arterial rupture, and deafness
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
chronic mucocutaneous candidiasis +
chronic myelogenous leukemia +
chronic recurrent multifocal osteomyelitis +
combined immunodeficiency with skin granulomas
congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
deficiency of adenosine deaminase 2 +
dermatitis herpetiformis, familial
dermatofibrosarcoma protuberans
dermatosis papulosa nigra
Desmoid-type fibromatosis +
diaphyseal medullary stenosis-bone malignancy syndrome
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
epidermodysplasia verruciformis +
familial acanthosis nigricans
familial chilblain lupus +
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
familial isolated pituitary adenoma +
familial multiple fibrofolliculoma
familial multiple nevi flammei
familial pityriasis rubra pilaris
familial primary localized cutaneous amyloidosis +
generalized basaloid follicular hamartoma syndrome
hereditary lipodystrophy +
hereditary mucoepithelial dysplasia
hereditary mucosal leukokeratosis +
hereditary multiple osteochondromas +
hereditary palmoplantar keratoderma +
hereditary papulotranslucent acrokeratoderma
hereditary periodic fever syndrome +
hereditary photodermatosis +
hereditary poikiloderma +
hereditary sclerosing poikiloderma with tendon and pulmonary involvement
hyperkeratosis lenticularis perstans
hyperkeratosis-hyperpigmentation syndrome
hyperparathyroidism 2 with jaw tumors
hyperpigmentation with or without hypopigmentation, familial progressive +
idiopathic juvenile osteoporosis
IFIH1-related type 1 interferonopathy +
immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome +
infantile myofibromatosis +
inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive
inflammatory bowel disease 1
inflammatory bowel disease 30
inflammatory bowel disease 5
inflammatory poikiloderma with hair abnormalities and acral keratoses
inherited acute myeloid leukemia
inherited epidermolysis bullosa +
isolated anhidrosis with normal sweat glands
isolated congenital adermatoglyphia
isolated hyperchlorhidrosis
jugulotympanic paraganglioma +
juvenile hyaline fibromatosis
keratolytic winter erythema
keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
keratosis pilaris atrophicans +
large congenital melanocytic nevus
lichen sclerosus et atrophicus +
linear nevus sebaceous syndrome
linear skin defects with multiple congenital anomalies
Marfan and Marfan-related disorder +
multiple benign circumferential skin creases on limbs 1
multiple epiphyseal dysplasia due to collagen 9 anomaly +
multiple symmetric lipomatosis
neonatal inflammatory skin and bowel disease + Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.
neonatal severe primary hyperparathyroidism
neurocutaneous melanocytosis
nevus comedonicus syndrome
oculocutaneous albinism +
orbit embryonal rhabdomyosarcoma
ossification of the posterior longitudinal ligament of the spine
osteopathia striata-pigmentary dermopathy-white forelock syndrome
Pelger-Huet-like anomaly and episodic fever with abdominal pain
periodic fever syndrome +
phakomatosis pigmentokeratotica
poikiloderma with neutropenia
progeroid and marfanoid aspect-lipodystrophy syndrome
progressive osseous heteroplasia
proteosome-associated autoinflammatory syndrome +
pustulosis palmaris et plantaris
pyogenic arthritis-pyoderma gangrenosum-acne syndrome
reticulate pigment disorder +
RNU7-1-related type 1 interferonopathy +
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
Singleton-Merten dysplasia +
spinocerebellar ataxia type 34
Spondyloenchondrodysplasia with immune dysregulation
STING-associated vasculopathy with onset in infancy
Subcutaneous Panniculitis-Like T-Cell Lymphoma
syndromic oculocutaneous albinism +
systemic juvenile idiopathic arthritis
TREX1-related type 1 interferonopathy +
trichohepatoenteric syndrome
type 1 interferonopathy +
ulcerative proctosigmoiditis
vasculitis, lymphocytic, nodular
X-linked chondrodysplasia punctata 2
X-linked reticulate pigmentary disorder
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