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16Q24.3 Microdeletion Syndrome
22q11 Deletion Syndrome +
3-methylglutaconic aciduria type 4
ablepharon macrostomia syndrome
Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies
Acrocephalopolydactylous Dysplasia
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia
adamantinoid basal cell epithelioma
Adducted Thumbs Syndrome +
adenoid basal cell carcinoma
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
Aksu von Stockhausen Syndrome
Al Gazali Aziz Salem Syndrome
anal margin basal cell carcinoma
Angel Shaped Phalangoepiphyseal Dysplasia
APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS
Arthrogryposis Epileptic Seizures Migrational Brain Disorder
asphyxiating thoracic dystrophy +
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation
autosomal dominant intellectual developmental disorder 22
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss
Axial Mesodermal Dysplasia Spectrum
Baby Rattle Pelvis Dysplasia
Bamforth-Lazarus syndrome
Baraitser-Winter syndrome +
Basal Cell Carcinoma, Nonsyndromic
basaloid squamous cell carcinoma +
Bazex-Dupre-Christol Syndrome
Bazopoulou Kyrkanidou Syndrome
Beckwith-Wiedemann syndrome +
Bellini Chiumello Rimoldi Syndrome
Ben Ari Shuper Mimouni Syndrome
Bent Bone Dysplasia Syndrome +
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
Beta-Ureidopropionase Deficiency
Bifid Femur with Monodactylous Ectrodactyly
Bilateral Amastia with Ureteral Triplication and Dysmorphism
bilateral perisylvian polymicrogyria +
Birk-Landau-Perez Syndrome
Bloch-Sulzberger syndrome +
Brachydactyly, Intraventricular Septal Defect, and Deafness
Brachymesomelia Renal Syndrome
Branchiogenic-Deafness Syndrome
branchiooculofacial syndrome
branchiootorenal syndrome +
Broad Terminal Phalanges, Familial
Burnett Schwartz Berberian Syndrome
Calcifying Odontogenic Cyst
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Cardiac, Facial, and Digital Anomalies with Developmental Delay
caudal regression syndrome
Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction
Cervical Vertebral Dysplasia
Chemke Oliver Mallek Syndrome
CHOPRA-AMIEL-GORDON SYNDROME
chromosome 15q26-qter deletion syndrome
chromosome 19q13.11 deletion syndrome
chromosome 1q21.1 deletion syndrome
chromosome 22q11.2 microduplication syndrome
chromosome 2p16.1-p15 deletion syndrome
chromosome 2q31.2 deletion syndrome
chromosome 5p13 duplication syndrome
clear cell basal cell carcinoma
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Combined Pituitary Hormone Deficiency 1
Combined Pituitary Hormone Deficiency 4
Conductive Deafness with Ptosis and Skeletal Anomalies
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome
congenital secretory sodium diarrhea 3
contractures, pterygia, and spondylocarpotarsal fusion syndrome +
Cornelia de Lange syndrome +
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta
Costocoracoid Ligament Congenitally Short
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome +
craniofacial-deafness-hand syndrome
Craniofaciofrontodigital Syndrome
Craniofacioskeletal Syndrome
craniolenticulosutural dysplasia
Craniomicromelic Syndrome
Craniosynostosis Syndrome, Autosomal Recessive
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig
Cree Mental Retardation Syndrome
Crumpled Helices and Small Mouth
Cryptomicrotia Brachydactyly Syndrome
deafness, dystonia, and cerebral hypomyelination
Deafness, Nephritis, Anorectal Malformation
deafness-intellectual disability, Martin-Probst type syndrome
Delayed Cranial Ossification due to CBFB Haploinsufficiency
developmental dysplasia of the hip +
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull
diaphyseal medullary stenosis with malignant fibrous histiocytoma
Dincsoy Salih Patel Syndrome
Disproportionate Tall Stature
distal arthrogryposis type 7
Dysplasia Epiphysealis Hemimelica +
dysplastic nevus syndrome
Ectrodactyly Cardiopathy Dysmorphism
Elliott Ludman Teebi Syndrome
Ellis Yale Winter Syndrome
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
external ear basal cell carcinoma
Facial Dysmorphism with Multiple Malformations +
Facio Thoraco Genital Syndrome
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder
familial adenomatous polyposis +
Familial Cancer with In Vitro Radioresistance
familial chronic myelocytic leukemia-like syndrome
Familial Cutaneous Collagenoma
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities
Familial Multiple Trichodiscomas
Feingold Trainer Syndrome
Femur Fibula Ulna Syndrome
fibroepithelial basal cell carcinoma
follicular basal cell carcinoma
Forney Robinson Pascoe Syndrome
Fraser Jequier Chen Syndrome
Fried Goldberg Mundel Syndrome
Fryns Hofkens Fabry Syndrome
Gardner Morrisson Abbot Syndrome
Gingival Fibromatosis with Hypertrichosis and Mental Retardation
Glutamyl Ribose-5-Phosphate Storage Disease
Gomez Lopez Hernandez Syndrome
Gorlin Chaudhry Moss Syndrome
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
Gurrieri Sammito Bellussi Syndrome
Hall Riggs Mental Retardation Syndrome
hand-foot-genital syndrome
Harrod Doman Keele Syndrome
Heart Defects Limb Shortening
hereditary breast ovarian cancer syndrome
Hereditary Leiomyomatosis and Renal Cell Cancer
hereditary multiple exostoses +
Hereditary Paraganglioma-Pheochromocytoma Syndromes
Hersh Podruch Weisskopf Syndrome
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly
Hittner Hirsch Kreh Syndrome
Ho Kaufman Mcalister Syndrome
Holzgreve-Wagner-Rehder syndrome
Hordnes Engebretsen Knudtson syndrome
Hunter-Macdonald Syndrome
hyperphosphatasia with impaired intellectual development syndrome +
Hypomelia Mullerian Duct Anomalies
hypoparathyroidism-retardation-dysmorphism syndrome
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
Hypotonia, Seizures, and Precocious Puberty
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
Infantile Capillary Hemangioma
infiltrative basal cell carcinoma
infundibulocystic basal cell carcinoma
Iris Dysplasia Hypertelorism Deafness
Isolated Noncompaction of the Ventricular Myocardium +
Jequier Kozlowski Skeletal Dysplasia
JOINT LAXITY, SHORT STATURE, AND MYOPIA
Jung Wolff Back Stahl Syndrome
juvenile polyposis syndrome +
Kantaputra Gorlin Syndrome
Kashani Strom Utley Syndrome
Kasznica Carlson Coppedge Syndrome
Keratoconus Posticus Circumscriptus with Associated Malformations
Kosaki Overgrowth Syndrome
Kozlowski Brown Hardwick Syndrome
Kozlowski Rafinski Klicharska Syndrome
Kozlowski Warren Fisher Syndrome
Krauss Herman Holmes Syndrome
lateral meningocele syndrome
Le Marec Bracq Picaud Syndrome
Lenz-Majewski hyperostotic dwarfism
Lethal Bone Dysplasia, Holmgren Type
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities
LETM1-ASSOCIATED CLINICAL SPECTRUM WITH PREDOMINANT NERVOUS SYSTEM INVOLVEMENT
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia
linear nevus sebaceous syndrome +
Lissencephaly Type III and Bone Dysplasia
Lutz Richner Landolt Syndrome
Lymphedema, Cardiac Septal Defects, and Characteristic Facies
Macroepiphyseal Dysplasia, McAlister Coe Type
Macrosomia Obesity Macrocephaly Ocular Abnormalities
Macrosomia with Lethal Microphthalmia
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
mandibuloacral dysplasia +
Marles Greenberg Persaud Syndrome
McKusick-Kaufman syndrome
McPherson Clemens Syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome +
Megalencephaly - Cutis Marmorata Telangiectatica Congenita
Melanoma-Pancreatic Cancer Syndrome
Membranous Cranial Ossification, Delayed
Menke-Hennekam Syndrome +
Mental Retardation, Buenos Aires Type
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Mesomelia-Synostoses Syndrome
Mesomelic Limb Shortening and Bowing
metatypical basal cell carcinoma
Microcephaly Albinism Digital Anomalies Syndrome
Microcephaly Seizures Mental Retardation Heart Disorders
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Microdontia Hypodontia Short Stature
micronodular basal cell carcinoma
Microspherophakia with Hernia
mismatch repair cancer syndrome +
Miura type epiphyseal chondrodysplasia
Morillo-Cucci Passarge Syndrome
morpheaform basal cell carcinoma
Mousa Al din Al Nassar Syndrome
mucolipidosis II alpha/beta
Mucopolysaccharidosis-Plus Syndrome
Muller Barth Menger Syndrome
Multiple Basal Cell Carcinoma
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull
multiple congenital anomalies-hypotonia-seizures syndrome +
multiple congenital anomalies-hypotonia-seizures syndrome 3
MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability
multiple endocrine neoplasia +
Myoectodermal Gonadal Dysgenesis Syndrome
Nablus Mask-Like Facial Syndrome
Nasopalpebral Lipoma Coloboma Syndrome
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia
NEUROCARDIOFACIODIGITAL SYNDROME
NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
Neurofaciodigitorenal Syndrome
nevoid basal cell carcinoma syndrome + A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities. (DO)
nodular basal cell carcinoma +
Noneruption of Teeth with Maxillary Hypoplasia and Genu Valgum
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features
Noonan syndrome with multiple lentigines +
Oculocerebral Hypopigmentation Syndrome Type Preus
oculocerebrorenal syndrome +
Oculopalatocerebral Syndrome
Oculorenocerebellar Syndrome
orofaciodigital syndrome +
Osteosclerosis with Ichthyosis and Premature Ovarian Failure
Palant Cleft Palate Syndrome
Pallister-Hall syndrome +
Patterson Pseudoleprechaunism Syndrome
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
Pelvis-Shoulder Dysplasia
penis basal cell carcinoma
Penoscrotal Transposition
Petty Laxova Wiedemann Syndrome
Pfeiffer Kapferer Syndrome
Pfeiffer Palm Teller Syndrome
Pfeiffer Tietze Welte Syndrome
PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY
Piepkorn Karp Hickok syndrome
pigmented basal cell carcinoma
polycystic kidney disease +
postaxial acrofacial dysostosis
Powell Chandra Saal Syndrome
Premature Aging, Okamoto Type
Pseudoaminopterin Syndrome
PTEN hamartoma tumor syndrome +
Radial Defect Robin Sequence
Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias
Radial Ray Hypoplasia Choanal Atresia
Radio-Ulnar Synostosis Type 1
Radio-Ulnar Synostosis Type 2
Radius Absent Anogenital Anomalies
Ramos Arroyo Clark Syndrome
Renal Hypophosphatemia with Intracerebral Calcifications
Rhizomelic Dysplasia Patterson Lowry Type
RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES
Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa
Ritscher-Schinzel syndrome +
Roifman-Chitayat Syndrome
Rozin Hertz Goodman Syndrome
Rubella Syndrome, Congenital
Rubinstein-Taybi syndrome +
Sackey Sakati Aur Syndrome
Sacral Meningocele Conotruncal Heart Defects
Sanderson Fraser Syndrome
Sandhaus Ben-Ami Syndrome
Sao Paulo MCA/MR Syndrome
sarcomatoid basal cell carcinoma
SATB2-associated syndrome
Say Field Coldwell Syndrome
Schaefer Stein Oshman Syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
scrotum basal cell carcinoma
Seckel Like Syndrome Type Buebel
Sharma Kapoor Ramji Syndrome
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
SHOX-related short stature
Shprintzen Omphalocele Syndrome
Shwachman-Diamond Syndrome 2
Siegler Brewer Carey Syndrome
Sifrim-Hitz-Weiss syndrome
signet ring basal cell carcinoma
Silengo Lerone Pelizza Syndrome
Silver-Russell syndrome +
Simpson-Golabi-Behmel syndrome type 2
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification
skin nasal cell carcinoma with sebaceous differentiation
Smith-Lemli-Opitz syndrome +
split hand-foot malformation +
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects
spondylocarpotarsal synostosis syndrome
spondylocostal dysostosis 1
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
Spranger Schinzel Myers Syndrome
Squalene Synthase Deficiency
Stankiewicz-Isidor Syndrome
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features
Stoelinga de Koomen Davis Syndrome
Stoll Levy Francfort Syndrome
SULEIMAN-EL-HATTAB SYNDROME
superficial basal cell carcinoma
Teebi hypertelorism syndrome +
Thomas Jewett Raines Syndrome
Thoracolaryngopelvic Dysplasia
Thymic Aplasia with Fetal Death
Tollner Horst Manzke Syndrome
Tricho-Dento-Osseous Syndrome 1
Trichoodontoonychial Dysplasia
Triphalangeal Thumbs with Brachyectrodactyly
Ulnar Hypoplasia with Mental Retardation
Urioste Martinez-Frias Syndrome
Uropathy Distal Obstructive Polydactyly
Uruguay faciocardiomusculoskeletal syndrome
Van den Ende-Gupta syndrome
Velofacioskeletal Syndrome
Verloove-Vanhorick Brubakk Syndrome
vertebral anomalies and variable endocrine and T-cell dysfunction
Vertebral Body Fusion Overgrowth
Vertebral, Cardiac, Renal, and Limb Defects Syndromes +
VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS
vitamin D-dependent rickets +
vulva basal cell carcinoma
Walbaum Titran Durieux Crepin Syndrome
Weill-Marchesani syndrome +
Weyers acrofacial dysostosis
Weyers Ulnar Ray/Oligodactyly Syndrome
White Forelock with Malformations
Wiedemann Grosse Dibbern Syndrome
Wiedemann Oldigs Oppermann Syndrome
Wiedemann-Steiner syndrome
Winter Harding Hyde Syndrome
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears
Yemenite Deaf-Blind Hypopigmentation Syndrome
YUKSEL-VOGEL-BAUER SYNDROME
Zadik Barak Levin Syndrome
Zimmerman Laband Syndrome +
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