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8q22.1 microdeletion syndrome
Abruzzo-Erickson syndrome
absence of fingerprints-congenital milia syndrome
absent tibia-polydactyly-arachnoid cyst syndrome
acro-renal-mandibular syndrome
acrocraniofacial dysostosis
acrofacial dysostosis, Weyers type
acrofrontofacionasal dysostosis 2
acrokeratosis verruciformis
Acroosteolysis dominant type
ADAR-related type 1 interferonopathy +
Aicardi-Goutieres syndrome +
alar cartilages hypoplasia-coloboma-telecanthus syndrome
albinism-hearing loss syndrome
anonychia-microcephaly syndrome
anophthalmia plus syndrome
anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
aplasia cutis congenita +
apparent mineralocorticoid excess
arrhinia-choanal atresia-microphthalmia syndrome
arterial tortuosity syndrome
atrioventricular defect-blepharophimosis-radial and anal defect syndrome
auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities 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 with immunodeficiency
autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
autoinflammatory syndrome, familial, Behcet-like +
autosomal dominant prognathism
autosomal dominant vibratory urticaria
autosomal recessive cutis laxa type 2A +
autosomal recessive faciodigitogenital syndrome
autosomal recessive inherited pseudoxanthoma elasticum
autosomal recessive multiple pterygium syndrome +
autosomal systemic lupus erythematosus type 16
Axenfeld-Rieger syndrome +
Beare-Stevenson cutis gyrata syndrome
Beemer-Ertbruggen syndrome
benign melanocytic skin nevus +
benign neoplasm of ethmoidal sinus +
benign neoplasm of maxillary sinus +
benign neoplasm of pituitary gland
blepharocheilodontic syndrome +
blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
bone fragility with contractures, arterial rupture, and deafness
brachytelephalangy-dysmorphism-Kallmann syndrome
branchio-oto-renal syndrome
branchiooculofacial syndrome
camptodactyly syndrome, Guadalajara type 1
camptodactyly syndrome, Guadalajara type 2
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
cataract-aberrant oral frenula-growth delay syndrome
cerebrotendinous xanthomatosis
CHILD syndrome CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
cholesterol biosynthetic process disease +
chronic mucocutaneous candidiasis +
chronic myelogenous leukemia +
chronic recurrent multifocal osteomyelitis +
cleft lip-retinopathy syndrome
cleft lip/palate-intestinal malrotation-cardiopathy syndrome
cleft palate-lateral synechia syndrome
combined immunodeficiency with skin granulomas
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
congenital vertebral-cardiac-renal anomalies syndrome +
contractures - webbed neck - micrognathia - hypoplastic nipples syndrome
craniofacial-deafness-hand syndrome
craniolenticulosutural dysplasia
cryptomicrotia-brachydactyly-excess fingertip arch syndrome
Cyprus facial-neuromusculoskeletal syndrome
Dahlberg-Borer-Newcomer syndrome
dappled diaphyseal dysplasia
deafness-craniofacial syndrome
deficiency of adenosine deaminase 2 +
dermatitis herpetiformis, familial
dermatofibrosarcoma protuberans
dermatosis papulosa nigra
Desmoid-type fibromatosis +
developmental malformations-deafness-dystonia syndrome
diaphragmatic defect-limb deficiency-skull defect syndrome
diaphyseal medullary stenosis-bone malignancy syndrome
dislocation of the hip-dysmorphism 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 apolipoprotein C-II deficiency
familial chilblain lupus +
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
familial isolated pituitary adenoma +
familial lipoprotein lipase deficiency
familial multiple fibrofolliculoma
familial multiple nevi flammei
familial pityriasis rubra pilaris
familial primary localized cutaneous amyloidosis +
fatty acid hydroxylase-associated neurodegeneration
fatty acyl-CoA reductase 1 deficiency
fetal akinesia deformation sequence +
Fibulo-ulnar hypoplasia-renal anomalies syndrome
Fontaine progeroid syndrome
frontofacionasal dysplasia
generalized basaloid follicular hamartoma syndrome
genito-palato-cardiac syndrome
gingival fibromatosis-facial dysmorphism syndrome
GM1 gangliosidosis type 1
hand-foot-genital syndrome
heart defect - tongue hamartoma - polysyndactyly syndrome
heart defects-limb shortening syndrome
heart-hand syndrome type 2
hereditary lipodystrophy +
hereditary mucoepithelial dysplasia
hereditary mucosal leukokeratosis +
hereditary multiple osteochondromas +
hereditary palmoplantar keratoderma +
hereditary papulotranslucent acrokeratoderma
hereditary periodic fever syndrome +
hereditary photodermatosis +
hereditary sclerosing poikiloderma with tendon and pulmonary involvement
hereditary spastic paraplegia 39
Hirschsprung disease-hearing loss-polydactyly syndrome
Hirschsprung disease-type D brachydactyly syndrome
Holzgreve-Wagner-Rehder syndrome
hydrocephaly-tall stature-joint laxity syndrome
hyperkeratosis-hyperpigmentation syndrome
hyperparathyroidism 2 with jaw tumors
hyperphosphatasia-intellectual disability syndrome
hyperpigmentation with or without hypopigmentation, familial progressive +
hypertrichosis-acromegaloid facial appearance syndrome
ichthyosis-oral and digital anomalies syndrome
idiopathic juvenile osteoporosis
IFIH1-related type 1 interferonopathy +
immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome +
infantile myofibromatosis +
inflammatory poikiloderma with hair abnormalities and acral keratoses
inherited acute myeloid leukemia
inherited epidermolysis bullosa +
intellectual disability, autosomal recessive 53
isolated anhidrosis with normal sweat glands
isolated congenital adermatoglyphia
isolated hyperchlorhidrosis
jugulotympanic paraganglioma +
juvenile hyaline fibromatosis
keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
keratosis pilaris atrophicans +
Krabbe disease due to saposin A deficiency
large congenital melanocytic nevus
lethal congenital contracture syndrome 1
lethal congenital contracture syndrome 2
lethal congenital contracture syndrome 3
lichen sclerosus et atrophicus +
linear nevus sebaceous syndrome
Linear nevus sebaceus syndrome
linear skin defects with multiple congenital anomalies
lipoprotein glomerulopathy
lysosomal acid lipase deficiency +
macrosomia-microphthalmia-cleft palate syndrome
macrostomia-preauricular tags-external ophthalmoplegia syndrome
mandibuloacral dysplasia +
Marfan and Marfan-related disorder +
McKusick-Kaufman syndrome
median nodule of the upper lip
mesomelic dwarfism-cleft palate-camptodactyly syndrome
mevalonate kinase deficiency +
microcephaly-albinism-digital anomalies syndrome
microcephaly-cardiac defect-lung malsegmentation syndrome
microcephaly-congenital cataract-psoriasiform dermatitis syndrome
microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
mullerian duct anomalies-limb anomalies syndrome
multinodular goiter-cystic kidney-polydactyly syndrome
multiple benign circumferential skin creases on limbs 1
multiple congenital anomalies-hypotonia-seizures syndrome 2
multiple epiphyseal dysplasia due to collagen 9 anomaly +
multiple symmetric lipomatosis
Nager acrofacial dysostosis
nasopalpebral lipoma-coloboma syndrome
neonatal inflammatory skin and bowel disease +
neonatal severe primary hyperparathyroidism
nephrosis-deafness-urinary tract-digital malformations syndrome
neurocutaneous melanocytosis
neuronal ceroid lipofuscinosis 8 northern epilepsy variant
nevus comedonicus syndrome
night blindness-skeletal anomalies-dysmorphism syndrome
Nijmegen breakage syndrome
Nijmegen breakage syndrome-like disorder
non-rhizomelic chondrodysplasia punctata +
Noonan syndrome with multiple lentigines
oculoauriculovertebral spectrum with radial defects +
oculocutaneous albinism +
orbit embryonal rhabdomyosarcoma
ossification of the posterior longitudinal ligament of the spine
osteopathia striata-pigmentary dermopathy-white forelock syndrome
otospondylomegaepiphyseal dysplasia, autosomal dominant
Paranasal Sinus Schneiderian Papilloma +
Pelger-Huet-like anomaly and episodic fever with abdominal pain
peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain +
phakomatosis pigmentokeratotica
pigmented spindle cell nevus
poikiloderma with neutropenia
polysyndactyly-cardiac malformation syndrome
porokeratotic eccrine ostial and dermal duct nevus
postaxial acrofacial dysostosis
posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
progeroid and marfanoid aspect-lipodystrophy syndrome
progressive non-infectious anterior vertebral fusion
progressive osseous heteroplasia
proteosome-associated autoinflammatory syndrome +
pyogenic arthritis-pyoderma gangrenosum-acne syndrome
radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
renal-genital-middle ear anomalies
reticulate pigment disorder +
rhizomelic chondrodysplasia punctata +
rhizomelic chondrodysplasia punctata type 1
Richieri Costa-da Silva syndrome
Richieri Costa-Pereira syndrome
RNU7-1-related type 1 interferonopathy +
scalp defects-postaxial polydactyly syndrome
scalp-ear-nipple syndrome
sea-blue histiocyte syndrome
seborrhea-like dermatitis with psoriasiform elements
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
short stature-craniofacial anomalies-genital hypoplasia syndrome
short stature-valvular heart disease-characteristic facies syndrome
short tarsus-absence of lower eyelashes syndrome
Singleton-Merten dysplasia +
Smith-Lemli-Opitz syndrome
spinocerebellar ataxia type 34
split hand-foot malformation 1 with sensorineural hearing loss
split-foot malformation-mesoaxial polydactyly syndrome
Spondyloenchondrodysplasia with immune dysregulation
STING-associated vasculopathy with onset in infancy
Subcutaneous Panniculitis-Like T-Cell Lymphoma
syndactyly-telecanthus-anogenital and renal malformations syndrome
syndromic oculocutaneous albinism +
syndromic recessive X-linked ichthyosis
tenosynovial giant cell tumor, diffuse type
tetraamelia-multiple malformations syndrome
thymic-renal-anal-lung dysplasia
Treacher-Collins syndrome +
TREX1-related type 1 interferonopathy +
trichohepatoenteric syndrome
trigonocephaly-bifid nose-acral anomalies syndrome
van den Ende-Gupta syndrome
vasculitis, lymphocytic, nodular
velo-facial-skeletal syndrome
ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome
Verloove Vanhorick-Brubakk syndrome
von Voss-Cherstvoy syndrome
Weill-Marchesani syndrome +
white forelock with malformations
X-linked chondrodysplasia punctata +
X-linked chondrodysplasia punctata 2
X-linked dominant chondrodysplasia punctata
X-linked reticulate pigmentary disorder
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