Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Incisors, Rotation Of Upper Central |
|
Rotated maxillary central incisors |
OMIM:147350 |
Diastema, Dental Medial |
|
Diastema, Widely-spaced maxillary central incisors |
OMIM:125900 |
Oocyte/Zygote/Embryo Maturation Arrest 16 |
|
Infertility |
OMIM:617234 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Rhabdoid Tumor Predisposition Syndrome 1 |
|
Medulloblastoma, Choroid plexus carcinoma |
OMIM:609322 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility |
OMIM:615413 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Glioma Susceptibility 3 |
|
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... |
OMIM:613029 |
Adrenocortical Carcinoma, Hereditary |
|
Adrenocortical carcinoma, Choroid plexus carcinoma |
OMIM:202300 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Dentin Dysplasia |
|
Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Medulloblastoma |
|
Medulloblastoma |
OMIM:155255 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition |
OMIM:125440 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Glioma Susceptibility 1 |
|
Glioblastoma multiforme, Astrocytoma, Ependymoma |
OMIM:137800 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ... |
ORPHA:276399 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Basal Cell Nevus Syndrome 2 |
|
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma |
OMIM:620343 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia |
OMIM:226650 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Scarring alopecia of scalp, Dental enamel pits |
OMIM:619787 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Neoplasm, Cutaneous melanoma, Neoplasm of the skin, Generalized hirsutism, Sarcoma |
ORPHA:626 |
Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Pilomatrixom... |
ORPHA:247806 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... |
OMIM:175100 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Rhabdomyoma, Palmar pits, Cardiac fibroma, Abnormal sternum morphology, Od... |
OMIM:109400 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Nephroblastoma, Embryonal rhabdomyosarcoma, Pleuropulmonary blastoma |
OMIM:180295 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma |
OMIM:135290 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly, Obesity |
OMIM:615988 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
Acropectoral Syndrome |
|
Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T... |
OMIM:605967 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma |
ORPHA:2023 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly, Obesity |
OMIM:615991 |
Gardner Syndrome |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci... |
ORPHA:79665 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility |
OMIM:136580 |
Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly, Obesity |
OMIM:615990 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma,... |
ORPHA:77301 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... |
OMIM:150800 |
Omphalocele |
|
Omphalocele |
ORPHA:660 |
Polydactyly, Postaxial, Type A10 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A |
OMIM:618498 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Obesity, Brachydactyly |
OMIM:615983 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Enchondromatosis, Multiple, Ollier Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:166000 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Neurofibromatosis, Type I |
|
Astrocytoma, Rhabdomyosarcoma, Spina bifida, Pectus excavatum, Aqueductal stenosis, Hydrocephalus... |
OMIM:162200 |
Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Turcot Syndrome With Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... |
ORPHA:99818 |
Heimler Syndrome 1 |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:234580 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Fanconi Anemia, Complementation Group N |
|
Short thumb, Nephroblastoma, Medulloblastoma, Neuroblastoma |
OMIM:610832 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias... |
OMIM:617927 |
Craniofrontonasal Dysplasia |
|
Congenital diaphragmatic hernia, Brachycephaly, Clinodactyly of the 5th finger, Finger syndactyly... |
ORPHA:1520 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
ORPHA:2871 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Cutaneous leiomyosarcoma, Trichodiscoma, Fibrofolliculoma, Multiple lipomas, Seba... |
OMIM:135150 |
Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma |
OMIM:615083 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... |
ORPHA:733 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
17Q11.2 Microduplication Syndrome |
|
Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology |
ORPHA:139474 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Abnormal thorax morphology, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal ... |
ORPHA:294975 |
Stimmler Syndrome |
|
Microdontia, Abnormal dental enamel morphology |
ORPHA:3199 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Caudal Appendage-Deafness Syndrome |
|
Cryptorchidism, Abnormal digit morphology, Caudal appendage |
ORPHA:1123 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Rhizomelia, Micrognathia, Abnormality of the humerus, Preaxial hand poly... |
ORPHA:3098 |
Osteomesopyknosis |
|
Infertility |
OMIM:166450 |
Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly |
ORPHA:2935 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Enamel hypoplasia, Retrognathia, High palate |
OMIM:617915 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Front... |
OMIM:600325 |
Chromosome 2Q31.1 Duplication Syndrome |
|
Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb |
OMIM:613681 |
Cutaneous Neuroendocrine Carcinoma |
|
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... |
ORPHA:79140 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Summitt Syndrome |
|
Syndactyly, Obesity |
OMIM:272350 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta, Hama... |
ORPHA:64754 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Medulloblastoma |
|
Cerebellar calcifications, Medulloblastoma, Adenomatous colonic polyposis, Spinal cord tumor, Cer... |
ORPHA:616 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau... |
ORPHA:3352 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79402 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
Multiple Enchondromatosis, Maffucci Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:614569 |
Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Obesity, Polydactyly, Clinodactyly |
OMIM:615984 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Proximal placement of thumb, Hypertelorism, Dolichocephaly, Cryptorchidism, Kyphosis, Brachycepha... |
OMIM:615433 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Hypertelorism, Cryptorchidism, Unilambdoid synostosis, Brachycephal... |
OMIM:618577 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
Subependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... |
ORPHA:251639 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Atrophic scars, Enamel hypoplasia |
OMIM:226700 |
Ependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... |
ORPHA:251636 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly |
OMIM:615938 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Volvulus, Intestinal bleeding, Hemangioma, Intussusception, Cerebellar medullobl... |
OMIM:112200 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... |
ORPHA:3268 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly, Obesity |
OMIM:615987 |
Non-Distal Duplication 10Q |
|
Frontal bossing, Hypertelorism, Pectus excavatum, Cryptorchidism, Brachycephaly, Scoliosis |
ORPHA:1695 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Abnormal distal phalanx morphology of finger, Hypogonadotropic hypogonadism, Abnormality of the h... |
ORPHA:1387 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Aplasia/Hypoplasia of the distal phalanges of... |
OMIM:113000 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Short metacarpal, Multiple exostoses, Pelvic bone exostoses, Protuberances at end... |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Chondrosarcoma, Short metacarpal, Multiple exostoses, Pelvic bone exostoses, Protuberances at end... |
OMIM:133700 |
7P22.1 Microduplication Syndrome |
|
Cryptorchidism, Hypertelorism |
ORPHA:314034 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Milroy Disease |
|
Angiosarcoma, Neoplasm of the skin |
ORPHA:79452 |
Neuroblastoma, Susceptibility To, 2 |
|
Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma |
OMIM:613013 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Squamous cell carcinoma of the skin |
ORPHA:85112 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Hypertelorism, Brachycephaly, Proptosis, Metacarpal synostosis, Midface retrusion, Brachydactyly |
ORPHA:35099 |
Pierpont Syndrome |
|
Short neck, Hypertelorism, Cryptorchidism, Short toe, High anterior hairline, Broad palm, Brachyc... |
OMIM:602342 |
X-Linked Intellectual Disability, Siderius Type |
|
Preaxial hand polydactyly, Cryptorchidism, Synophrys, Low posterior hairline, Large hands, Scolio... |
ORPHA:85287 |
Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Familial Multiple Lipomatosis |
|
Bowing of the long bones, Medulloblastoma, Overgrowth, Odontogenic keratocysts of the jaw |
ORPHA:199276 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Thoracic hypop... |
OMIM:617866 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
Carpenter Syndrome |
|
Finger syndactyly, Syndactyly, Toe syndactyly, Cloverleaf skull, External genital hypoplasia, Kyp... |
ORPHA:65759 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter... |
OMIM:114500 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Microretrognathia, Inguinal hernia, Hip contracture, Micrognathia, Carious... |
OMIM:618363 |
Cornelia De Lange Syndrome 5 |
|
Toe syndactyly, Proximal placement of thumb, Short neck, Highly arched eyebrow, Cryptorchidism, S... |
OMIM:300882 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility |
ORPHA:488191 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon... |
OMIM:620189 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia |
OMIM:183300 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Cleft palate, Melanoma, Retino... |
ORPHA:790 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture |
OMIM:203550 |
Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia |
OMIM:613576 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Enamel hypoplasia, Thick vermilion border |
ORPHA:363523 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Heimler Syndrome 2 |
|
Dental crowding, Amelogenesis imperfecta |
OMIM:616617 |
Glioma susceptibility 9 |
|
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia |
OMIM:616568 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
Orofaciodigital Syndrome Type 10 |
|
Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ... |
ORPHA:2756 |
Phakomatosis Pigmentokeratotica |
|
Rhabdomyosarcoma, Renal transitional cell carcinoma, Basal cell carcinoma, Patchy alopecia, Pheoc... |
ORPHA:2874 |
Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Tapered finger, Cryptorchidism, Short toe, Kyp... |
OMIM:301900 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Tapered finger, Cryptorchidism, Short foot, Emotional lability, Thick eyebrow |
OMIM:309585 |
Hao-Fountain Syndrome |
|
Hallux valgus, Trigonocephaly, Aggressive behavior, Cryptorchidism, Clinodactyly of the 5th finge... |
OMIM:616863 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Frontal bossing, Hyperactivity, Unilateral renal agenesis, Aggressive behavior, Precocious pubert... |
ORPHA:3306 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly |
OMIM:600384 |
Pierpont Syndrome |
|
Short neck, Hypertelorism, Cryptorchidism, Short toe, Brachycephaly, Deeply set eye, Deep palmar ... |
ORPHA:487825 |
Epidermal Nevus Syndrome |
|
Lipoma, Weakness of long finger extensor muscles, Spinal cord tumor, Rhabdomyosarcoma |
ORPHA:35125 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Muenke Syndrome |
|
Midface retrusion, Broad hallux, Hypertelorism, Capitate-hamate fusion, Low anterior hairline, Br... |
OMIM:602849 |
Trichodental Dysplasia |
|
Odontodysplasia, Hypodontia, Conical tooth |
OMIM:601453 |
Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
1Q21.1 Microduplication Syndrome |
|
Frontal bossing, Hypospadias, Hypertelorism, Cryptorchidism, Hip dislocation, Hip dysplasia, Tali... |
ORPHA:250994 |
Greig Cephalopolysyndactyly Syndrome |
|
Abnormal calvaria morphology, Camptodactyly of toe, Broad hallux phalanx, Broad hallux, Hypospadi... |
OMIM:175700 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Hypospadias, Postaxial polydactyly, Hyperlordosis, Kyphosis, Synophrys... |
OMIM:615761 |
O'Donnell-Luria-Rodan Syndrome |
|
Aggressive behavior, Tapered finger, Cryptorchidism, Kyphosis, Deeply set eye, Self-injurious beh... |
OMIM:618512 |
Pilomatrixoma |
|
Pilomatrixoma |
OMIM:132600 |
Hall-Riggs Syndrome |
|
Thick lower lip vermilion, Microdontia of primary teeth, Hypoplasia of the primary teeth, U-Shape... |
OMIM:234250 |
Gordon Syndrome |
|
Finger syndactyly, Decreased muscle mass, Camptodactyly of finger, Pectus excavatum, Cryptorchidi... |
ORPHA:376 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth |
ORPHA:248 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... |
ORPHA:447877 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility |
OMIM:264110 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Preaxial polydactyly, Obesity |
ORPHA:141333 |
2Q23.1 Microdeletion Syndrome |
|
Hypoplasia of penis, Hyperactivity, Sandal gap, Highly arched eyebrow, Cryptorchidism, Synophrys,... |
ORPHA:228402 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca... |
ORPHA:251393 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg... |
ORPHA:85184 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Natal tooth, Mandibular prognathia, Broad long bones, Dental crowding, Coxa valga, Cu... |
OMIM:269300 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypoplasia, Lateral cl... |
OMIM:613091 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... |
ORPHA:2325 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... |
ORPHA:166016 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Hypertelorism, Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinova... |
OMIM:300434 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism, Short thumb |
OMIM:274205 |
Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... |
OMIM:617405 |
Acquired Ichthyosis |
|
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma |
ORPHA:454 |
Basal Cell Carcinoma, Susceptibility To, 1 |
|
Basal cell carcinoma |
OMIM:605462 |
Zimmermann-Laband Syndrome 3 |
|
Thick hair, Aplasia of the distal phalanx of the 5th toe, Kyphosis, Synophrys, Low anterior hairl... |
OMIM:618658 |
Acrodysostosis |
|
Micromelia, Short metatarsal, Brachycephaly, Abnormal form of the vertebral bodies, Abnormality o... |
ORPHA:950 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Junctional Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia |
ORPHA:79405 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Tapered finger, Cryptorchidism, Hypogonadism, Micropenis, Sparse body hair |
ORPHA:85274 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta |
ORPHA:71267 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Obesity, Brachydactyly |
OMIM:615982 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size |
ORPHA:98797 |
Trichodentoosseous Syndrome |
|
Microdontia, Taurodontia, Widely spaced teeth |
OMIM:190320 |
Gorlin Syndrome |
|
Vertebral fusion, Frontal bossing, Arachnodactyly, Hypogonadotropic hypogonadism, Hypertelorism, ... |
ORPHA:377 |
Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Anal atresia, Natal tooth, Large posterior fontanelle, Postaxial polydactyly, Hamartoma of tongue... |
OMIM:617925 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Coxa valga, Micrognathia, Wide anterior fontanel, Abnormality of ... |
ORPHA:163649 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Renal cyst, Narrow greater sciatic notch, Narrow chest, Short tibia, Enceph... |
OMIM:616300 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Obesity, Bell-shaped thorax, Short long bone, Thora... |
OMIM:615633 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Short neck, Brachycephaly, Short palm, Clinodactyly of the 5th finger, Micropenis, Abnormal repet... |
OMIM:620073 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, High palate, Bilatera... |
OMIM:618142 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia, Increased connective tissue |
OMIM:226670 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachydactyly, Flat occiput, Hyperlordosis, Pectus excavatum, Abnormal metacarpal morphology, Abn... |
ORPHA:2511 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... |
OMIM:225280 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Ritscher-Schinzel Syndrome 4 |
|
Curly hair, Ulnar deviation of the hand, Impulsivity, Tapered finger, Hypertelorism, Cryptorchidi... |
OMIM:619435 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Obesity, Tapered finger |
OMIM:618725 |
Trisomy 4P |
|
Hypospadias, Camptodactyly of finger, Abnormal hair pattern, Short neck, Hypertelorism, Preaxial ... |
ORPHA:1738 |
Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Hyperactivity, Restlessness, Abnormality of the hand, Short neck, Hypertelorism, Cryp... |
ORPHA:369891 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Preaxial hand polydact... |
ORPHA:380 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta... |
OMIM:609052 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Brachydactyly, Renal insufficiency, Cryptorchidism, Brach... |
ORPHA:2377 |
Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... |
OMIM:619110 |
Intellectual Disability, Wolff Type |
|
Hypospadias, Camptodactyly of finger, Hypertelorism, Cryptorchidism, Low posterior hairline, Larg... |
ORPHA:3080 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Hyperactivity, Decreased palmar creases, Highly arched eyebrow, Hypertelorism, Kyphosis, Brachyce... |
OMIM:615834 |
2Q32Q33 Microdeletion Syndrome |
|
Broad hallux phalanx, Arachnodactyly, Aggressive behavior, Brachycephaly, Fine hair, Broad thumb,... |
ORPHA:251019 |
19P13.12 Microdeletion Syndrome |
|
Short neck, Synophrys, Brachycephaly, Short palm, Clinodactyly of the 5th finger, Generalized hir... |
ORPHA:254346 |
Atkin-Flaitz Syndrome |
|
Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor... |
ORPHA:1193 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg... |
ORPHA:90652 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Brachydactyly, Turricephaly, Single transverse palmar crease, Pa... |
OMIM:601224 |
Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly, Obesity, Large for gestational age |
OMIM:617119 |
Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Small hand, Short foot, Deeply set eye, Hypogonadism, Sparse body hair, Decreased... |
ORPHA:261483 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... |
OMIM:601216 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Tetralogy Of Fallot |
|
Cryptorchidism, Proptosis, Dolichocephaly, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:3303 |
Nijmegen Breakage Syndrome |
|
Sinusitis, Sandal gap, Glioma, Rhabdomyosarcoma, Micrognathia, Malar prominence, Medulloblastoma,... |
OMIM:251260 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia |
ORPHA:79406 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:1113 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Single transverse palmar crease, Short neck, Cryptorchidism, Kyphosis, Flexion contracture, Scoli... |
ORPHA:178148 |
48,Xyyy Syndrome |
|
Thick lower lip vermilion, Irregularly spaced teeth, High palate, Long philtrum, Enamel hypoplasia |
ORPHA:99329 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Micrognathia, Hydrocephalus, Embryonal rhabdomyosarcoma, Renal cyst... |
OMIM:257300 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Frontal bossing, Tapered finger, Pectus excavatum, Kyphosis, Hypertelorism, Depression, Large han... |
ORPHA:276630 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... |
ORPHA:523 |
15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
Recombinant Chromosome 8 Syndrome |
|
Midface retrusion, Hypertelorism, Pectus excavatum, Cryptorchidism, Brachycephaly, Low posterior ... |
OMIM:179613 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele |
OMIM:258320 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... |
OMIM:600175 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Frontal bossing, Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Dolichocephaly,... |
ORPHA:40 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Pseudodiastrophic Dysplasia |
|
Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Short neck, Elbow disl... |
OMIM:264180 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Pilomatrixoma |
|
Pilomatrixoma, Neoplasm of head and neck |
ORPHA:91414 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Basal cell carcinoma, Verrucae, Squamous cell carcinoma |
OMIM:618267 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Slow-growing hair, Frontal bossing, Me... |
ORPHA:3082 |
German Syndrome |
|
Abnormal eyebrow morphology, Camptodactyly of finger, Short neck, Dolichocephaly, Cryptorchidism,... |
ORPHA:2077 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Cleft palate, Acute lym... |
ORPHA:1052 |
Acrofrontofacionasal Dysostosis 2 |
|
Bifid scrotum, Syndactyly, Sacral dimple, Broad hallux, Hypospadias, Hypertelorism, Widow's peak,... |
OMIM:239710 |
Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ... |
ORPHA:2591 |
Bowen-Conradi Syndrome |
|
Clinodactyly of the 5th finger, Cryptorchidism, Camptodactyly of finger, Rocker bottom foot |
ORPHA:1270 |
Gómez-López-Hernández Syndrome |
|
Turricephaly, Hypertelorism, Brachycephaly, Alopecia of scalp, Toenail dysplasia, Midface retrusion |
ORPHA:1532 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Hypodontia |
OMIM:616029 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Arachnodactyly, Hypospadias, Kyphosis, Scoliosis, Dolichocephaly, Abnormal testis morphology, Bil... |
ORPHA:1548 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Joubert Syndrome 15 |
|
Preaxial polydactyly, Exencephaly |
OMIM:614464 |
Paraneoplastic Pemphigus |
|
B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
48,Xxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Short neck, Brachycephaly, Clinodactyly of the 5th finger, Hy... |
ORPHA:96263 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Downturned corners of mouth, Enamel hypoplasia |
ORPHA:2643 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia |
OMIM:614564 |
Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
Parastremmatic Dwarfism |
|
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis |
OMIM:168400 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elb... |
ORPHA:2633 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ... |
OMIM:228520 |
Pili Torti |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:2889 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Cryptorchidism, Kyphosis, Flexion con... |
OMIM:618484 |
Meige Disease |
|
Angiosarcoma |
ORPHA:90186 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi... |
OMIM:618729 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Decreased palmar creases, Highly arched eyebrow, Hypertelorism, Cryptorchidism, Ky... |
ORPHA:352490 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
49,Xxxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Short neck, Brachycephaly, Low frustration tolerance, Clinoda... |
ORPHA:96264 |
Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of the hand, Diaphyseal thicken... |
ORPHA:3152 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
Bohring-Opitz Syndrome |
|
Ulnar deviation of the wrist, Facial hypotonia, Micrognathia, Pectus excavatum, Medulloblastoma, ... |
ORPHA:97297 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... |
ORPHA:220460 |
Ollier Disease |
|
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma |
ORPHA:296 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Pectus excavatum, Brachycephaly, Scoliosis, Attention de... |
ORPHA:776 |
Schaaf-Yang Syndrome |
|
Frontal bossing, Rocker bottom foot, Impulsivity, Tapered finger, Cryptorchidism, Kyphosis, Flexi... |
OMIM:615547 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Micrognathia, Open bite, Abnormal rib morphology, La... |
ORPHA:2097 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Hypospadias, Turricephaly, Craniosynostosis, Hypertelor... |
ORPHA:171839 |
Weaver Syndrome |
|
Deep-set nails, Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodactyly of finger, Abno... |
ORPHA:3447 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:245660 |
Pseudodiastrophic Dysplasia |
|
Omphalocele |
ORPHA:85174 |
Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Anal stenosis, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Lymphoma, T-ce... |
ORPHA:647 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S... |
OMIM:615503 |
Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
Chromosome 5P13 Duplication Syndrome |
|
Frontal bossing, Turricephaly, Single transverse palmar crease, Craniosynostosis, Hypertelorism, ... |
OMIM:613174 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:612463 |
Intellectual Disability, Birk-Barel Type |
|
Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow palate, Incisor ma... |
ORPHA:166108 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Hypogonadism, Infertility |
OMIM:240950 |
3Q13 Microdeletion Syndrome |
|
Hypoplasia of penis, Abnormality of the hand, Hypertelorism, Short neck, Cryptorchidism |
ORPHA:1621 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ... |
ORPHA:2919 |
Carpenter Syndrome 1 |
|
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Short neck, Brach... |
OMIM:201000 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Cornelia De Lange Syndrome 2 |
|
Thick eyebrow, Proximal placement of thumb, Limited elbow movement, Short neck, Highly arched eye... |
OMIM:300590 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Flat occiput, Cryptorchidism, Bilateral talipes equinovarus, Scoliosis, Hand clenching, Arthrogry... |
ORPHA:319332 |
Desanto-Shinawi Syndrome |
|
Short neck, Hypertelorism, Aggressive behavior, Synophrys, Hirsutism, Brachycephaly, Deeply set e... |
OMIM:616708 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79411 |
Seckel Syndrome 5 |
|
Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypodontia, Ename... |
OMIM:613823 |
Arthrogryposis, Distal, Type 4 |
|
2-5 finger cutaneous syndactyly, Torticollis, Single transverse palmar crease, Kyphosis, Low ante... |
OMIM:609128 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Tapered finger, Hypertelorism, Small hand, Brachycephaly, Low posterior hairline, Hypotelorism, D... |
OMIM:618672 |
Rubinstein-Taybi Syndrome 2 |
|
Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High palate, Increas... |
OMIM:613684 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Decreased muscle mass, Flat occiput, External genital hy... |
ORPHA:3041 |
Congenital Central Hypoventilation Syndrome |
|
Neoplasm of the central nervous system, Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma |
ORPHA:661 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Frontal bossing, Hypertelorism, Short neck, Cryptorchidism, Brachycephaly, Plagiocephaly, Macrogl... |
OMIM:616789 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Hypospadias, Brachycephaly, Postaxial polydactyly |
OMIM:615985 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Micromelia, Hamartoma of tongue, Hydrocephalus, Congeni... |
OMIM:616546 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
OMIM:300604 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Bowing of the legs, Pheochromocytoma, Myelodysplasia, ... |
ORPHA:97685 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Medial flaring of the eyebrow, Sparse scalp hair, Frontal bossing, 2-3 toe cutaneous syndactyly, ... |
OMIM:617364 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Kyphosis, Hypogonadism, Cubitus valgus, Congenital muscular dystrophy,... |
ORPHA:1875 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Mulibrey Nanism |
|
Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocclusion, Hypodo... |
OMIM:253250 |
Pseudohypoaldosteronism Type 2 |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:757 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Frontal bossing, Sacral dimple, Aggressive behavior, 2-3 toe cutaneous syndactyly, Widow's peak, ... |
OMIM:615828 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Frontal bossing, Midface retrusion, Arachnodactyly, Hyperconvex nail, Postaxial polydactyly, Tape... |
OMIM:619721 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Facial palsy, Abnormal rib morphology, Clavicul... |
ORPHA:2790 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Sacral dimple, Alopecia, Frontal bossing, Rocker bottom foot, Proximal placeme... |
OMIM:619762 |
Acrofrontofacionasal Dysostosis |
|
Bifid scrotum, Brachydactyly, Hypospadias, Camptodactyly of finger, Micromelia, Hypertelorism, Br... |
ORPHA:1784 |
Pde4D Haploinsufficiency Syndrome |
|
Thickened calvaria, Short metatarsal, Brachycephaly, Hypotelorism, Irregular vertebral endplates,... |
ORPHA:439822 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Wide anterior fontanel, Cleft palate, High palate, Clinoda... |
OMIM:619736 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
49,Xyyyy Syndrome |
|
Abnormality of the epiphyses of the elbow, Turricephaly, External genital hypoplasia, Abnormality... |
ORPHA:99330 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Tapered finger, Aggressive behavior, Cryptorchidism, Deeply set eye, Pat... |
ORPHA:85279 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Overweight, Tr... |
ORPHA:370010 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Overgrowth, Polydactyly, Leukemia, Nephroblastoma, Meningioma |
OMIM:602501 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Sacral dimple, Toe syndactyly, Arachnodactyly, Overlappi... |
ORPHA:505237 |
Craniosynostosis 2 |
|
Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Metopic synostosi... |
OMIM:604757 |
Fetal Valproate Spectrum Disorder |
|
Omphalocele |
ORPHA:1906 |
Trisomy 20P |
|
Short neck, Low anterior hairline, Brachycephaly, Abnormal form of the vertebral bodies, Vertebra... |
ORPHA:261318 |
Costello Syndrome |
|
Barrel-shaped chest, Hyperextensibility of the finger joints, Limited elbow movement, Rhabdomyosa... |
OMIM:218040 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyl... |
OMIM:615986 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, Multicystic kidney dysplasia, Triphalangea... |
ORPHA:2091 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot |
DECIPHER:46 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Sacral dimple, Flat occiput, Overlapping toe, Postaxial polydactyly, Tapered finger, Highly arche... |
OMIM:613792 |
Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Obesity, Genu valgum, Short palm, Clinodactyly of the... |
ORPHA:3210 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Frontal bossing, Congenital hip dislocation, Hypertelorism, Pectus excavatum, Cryptorchidism, Hip... |
OMIM:219150 |
Alazami-Yuan Syndrome |
|
Thick eyebrow, Hyperactivity, Broad hallux, Single transverse palmar crease, Highly arched eyebro... |
OMIM:617126 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... |
ORPHA:1452 |
Filippi Syndrome |
|
Thin vermilion border, Short philtrum, Hypodontia, Microdontia, Serrated incisors |
OMIM:272440 |
Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
Desmoid Tumor |
|
Intestinal polyposis, Intestinal obstruction, Malabsorption, Desmoid tumors, Neoplasm of the skin... |
ORPHA:873 |
Progressive Osseous Heteroplasia |
|
Sarcoma |
ORPHA:2762 |
Craniofrontonasal Syndrome |
|
Ridged nail, Congenital diaphragmatic hernia, Short neck, Brachycephaly, Clinodactyly of the 5th ... |
OMIM:304110 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Sacral dimple, Flat occiput, Overlapping toe, Down-sloping shoulders, Highly arched eyebrow, Tape... |
OMIM:617452 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Hamartoma, Polydactyly |
OMIM:300484 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... |
ORPHA:93316 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Frontal bossing, Hypertelorism, Brachycephaly, Pigmentary retinopathy, Irritability, Dysphagia |
OMIM:264470 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Joint dislocation, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toe... |
ORPHA:3201 |
Muenke Syndrome |
|
Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Hypertelorism, Hypopigmented ... |
ORPHA:53271 |
Nephronophthisis 15 |
|
Polydactyly, Obesity |
OMIM:614845 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Achilles tendon contracture, Dental malocclusion, Widely-spaced maxilla... |
OMIM:619719 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia |
OMIM:618349 |
Coffin-Siris Syndrome 8 |
|
Sparse scalp hair, Hyperactivity, Aggressive behavior, Cryptorchidism, Self-injurious behavior, L... |
OMIM:618362 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Kyphosis, Scoliosis, Joint contracture, Lower limb muscle weakness |
OMIM:611225 |
Diastrophic Dysplasia |
|
Bowing of the long bones, Midface retrusion, Camptodactyly of finger, Proximal placement of thumb... |
ORPHA:628 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Facial palsy, Craniosynostosis, Hypertelorism, Brachycephaly, Thickened calvaria |
ORPHA:178377 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Thin upper lip vermilion, Interphalangeal joint contracture of finger, Preaxial hand polydactyly,... |
OMIM:606242 |
Chromosome 16Q22 Deletion Syndrome |
|
Prominent metopic ridge, Broad hallux, Single transverse palmar crease, Micrognathia, Wide anteri... |
OMIM:614541 |
Cenani-Lenz Syndactyly Syndrome |
|
Premature loss of permanent teeth, Micrognathia, Hypodontia, Malar flattening, Enamel hypoplasia |
OMIM:212780 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Unilateral hy... |
OMIM:173800 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... |
OMIM:614840 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Rocker bottom foot, Short neck, Cryptorchidism, Kyphosis, Camptodactyly,... |
OMIM:618393 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Deeply set eye, Self-injurious behavior, Brachycephaly, Aggressive behavior |
OMIM:300699 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges... |
OMIM:601356 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Single transverse palmar crease, Rocker bottom foot, Short neck, Cryptor... |
OMIM:611890 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Neonatal epiphyseal stippling, Short metatarsal, Brachycephaly, Hypoplastic vertebral bodies, Sho... |
OMIM:101800 |
Smith-Magenis Syndrome |
|
Hyperactivity, Midface retrusion, Synophrys, Self hugging, Broad palm, Head-banging, Brachycephal... |
OMIM:182290 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Hyperactivity, Highly arched eyebrow, Aggressive behav... |
OMIM:600430 |
Endocrine-Cerebroosteodysplasia |
|
Barrel-shaped chest, Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Si... |
OMIM:612651 |
Hydrolethalus Syndrome 2 |
|
Micrognathia, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Cleft palate, Postaxial foo... |
OMIM:614120 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti... |
ORPHA:69087 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a... |
OMIM:146110 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Congenital diaphragmatic hernia, Short neck, Frontotemporal hypertri... |
OMIM:263210 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, H... |
ORPHA:2872 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly, Polycystic kidney dysplasia |
OMIM:615397 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short femur, Micrognathia, Abnormal rib morphology, Rib fusion, Abnorma... |
ORPHA:1988 |
Arthrogryposis, Distal, Type 1A |
|
Hip contracture, Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Ro... |
OMIM:108120 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormon... |
OMIM:275400 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Enamel hypoplasia, Widely spaced teeth, Conical tooth |
OMIM:613573 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Kyphosis, Congenital bilateral hip dislocation, Talipes equinovarus, Hirsutism |
ORPHA:85288 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ... |
OMIM:156530 |
Ramon Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morphology, Narrow palate |
ORPHA:3019 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Huriez Syndrome |
|
Squamous cell carcinoma of the skin, Nail dystrophy, Small nail |
OMIM:181600 |
Isolated Anencephaly |
|
Omphalocele, Intrauterine growth retardation, Congenital diaphragmatic hernia |
ORPHA:563609 |
Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Flexion contracture |
OMIM:270200 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... |
OMIM:271530 |
Orofaciodigital Syndrome Xvii |
|
Prominent metopic ridge, Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow p... |
OMIM:617926 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Metaphyseal widening, Brachycephaly, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion c... |
OMIM:259600 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Fibroma, Mesomel... |
OMIM:300244 |
Wildervanck Syndrome |
|
Facial palsy, Short neck, Congenital sensorineural hearing impairment, Meningocele, Low posterior... |
ORPHA:3456 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... |
ORPHA:1350 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Enamel hypomineralization |
ORPHA:494444 |
Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly |
ORPHA:1296 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Micrognathia, Central Y-shaped metacarpal... |
ORPHA:2754 |
Fetal Encasement Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia |
OMIM:613630 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger |
OMIM:618453 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... |
ORPHA:2141 |
Carney Triad |
|
Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang... |
ORPHA:139411 |
Cebalid Syndrome |
|
Turricephaly, Congenital diaphragmatic hernia, Highly arched eyebrow, Hypertelorism, Platystencep... |
OMIM:618774 |
Ectrodactyly-Polydactyly |
|
Split hand, Postaxial hand polydactyly, Split foot |
OMIM:225290 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Hypertelorism, Pectus excavatum, Cryptorchidism, Clinodactyly, Widow's peak, Small hand, Broad fi... |
OMIM:614684 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Hyperactivity, Hypospadias, Cryptorchidism, Short metatarsal, Advanced ossifica... |
OMIM:614613 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... |
ORPHA:1540 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down-sloping shoulders, Dec... |
OMIM:114300 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Premature pubarche, Kyphoscoliosis, Bowing of the legs, Secondary amenorrhea, Irregular vertebral... |
OMIM:612847 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Cdkl5-Deficiency Disorder |
|
Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Synophrys, Deeply set eye, Inappro... |
ORPHA:505652 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Impulsivity, Aggressive behavior, Cryptorchidism, Kyphosis, Flexion contracture, Small hand, Brac... |
ORPHA:500055 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Sacral d... |
ORPHA:1327 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Brachycephaly, Deeply set eye, Inappropriate laughter, High anterior hairline, Recurrent hand fla... |
OMIM:618859 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Pectus excavatum, Kyph... |
OMIM:615290 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia |
OMIM:612843 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Brachycephaly, Knee fle... |
ORPHA:3103 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Bowing o... |
OMIM:613849 |
Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Thick hair, Abnormal hair pattern, Brachycephaly, Long eyelashes, Spina bifida... |
ORPHA:1514 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, External genital hypoplasia, Stage 5 chronic kidney disease, Renal cyst, Pol... |
OMIM:615993 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Frontal bossing, Alopecia, Small scrotum, Hypertelorism, Cryptorchidism, Brachycephaly, Fine hair... |
ORPHA:228390 |
Distal Duplication 18Q |
|
Hypoplasia of penis, Arachnodactyly, Camptodactyly of finger, Abnormal hair pattern, Short neck, ... |
ORPHA:1716 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Micrognathia, Wide anterior fontanel, Small hand, Antecubital pt... |
OMIM:619339 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Hamartoma of tongue, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syn... |
OMIM:217085 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Hypogonadism, Brachycephaly |
ORPHA:2528 |
Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Hiatus hernia, Teratoma, Carcinoma, Cleft palate, Chiari malformati... |
OMIM:304050 |
Craniosynostosis 6 |
|
Turricephaly, Craniosynostosis, Hypertelorism, Parietal foramina, Low anterior hairline, Brachyce... |
OMIM:616602 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Decreased muscle mass, Long palm, Single transverse palm... |
OMIM:309583 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Contractural Arachnodactyly, Congenital |
|
Short neck, Brachycephaly, Knee flexion contracture, Wrist flexion contracture, Arachnodactyly, U... |
OMIM:121050 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Perineal hypospadias, Microp... |
OMIM:615542 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br... |
ORPHA:1278 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Supernumerary nipple, Decreas... |
ORPHA:1173 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Skeletal muscle atrophy, Cryptorchidism, Brachycephaly, Scoliosis, Joint contracture |
OMIM:615419 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Radial deviation of the hand, Rocker bottom foot, Urinary incontinence, Short ne... |
OMIM:301041 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
Kleefstra Syndrome 1 |
|
Hypospadias, Single transverse palmar crease, Hypertelorism, Aggressive behavior, Cryptorchidism,... |
OMIM:610253 |
Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Synovitis, Hype... |
OMIM:601492 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... |
OMIM:115310 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Abnormal hair p... |
ORPHA:794 |
Wilson-Turner Syndrome |
|
Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Small hand, Short foot, Deeply set... |
ORPHA:3459 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia |
OMIM:615502 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Frontal bossing, Hyperactivity, Sandal gap, Tapered finger, Aggressive behavior, Brachycephaly, P... |
OMIM:618430 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Syndactyly, Frontal bossing, Hypospadias, Dysmenorrhea, Cryptorchidism, Abnormalit... |
ORPHA:397590 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Tapered finger... |
OMIM:313420 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Sandal gap, Aggressive behavior, Hypertelorism, Brachycephaly, Dolichocephaly, Cli... |
OMIM:617752 |
Cheilitis Glandularis |
|
Neoplasm, Squamous cell carcinoma |
ORPHA:1221 |
Trisomy 9P |
|
Sacral dimple, Hypoplastic fingernail, Bilateral single transverse palmar creases, Short neck, Hy... |
ORPHA:236 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Highly arched eyebrow, Cryptorchidism, Kyphosis, Low anterior hairline, 2-... |
ORPHA:404440 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To... |
ORPHA:2863 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... |
OMIM:300602 |
Platelet Disorder, Undefined |
|
Neuroblastoma, Hematological neoplasm |
OMIM:173420 |
Orofaciodigital Syndrome Xix |
|
Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Accessory oral frenulum, C... |
OMIM:620107 |
Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Neuropathic spinal arthropathy, Hypoglycosylation of alpha-dystroglycan, Multiple joint contractu... |
ORPHA:370968 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Umbilical hernia |
OMIM:275100 |
Braddock-Carey Syndrome 1 |
|
Pierre-Robin sequence, Cleft palate, Everted lower lip vermilion, Thick vermilion border, Camptod... |
OMIM:619980 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Brachycephaly, Hip subluxation, Scoliosis |
OMIM:620200 |
Lethal Osteosclerotic Bone Dysplasia |
|
Micrognathia, Large fontanelles, Gingival fibromatosis, Gingival overgrowth, Mandibular aplasia, ... |
ORPHA:1832 |
Pycnodysostosis |
|
Persistent open anterior fontanelle, Increased bone mineral density, Aplastic clavicle, Persisten... |
OMIM:265800 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Torticollis, Short neck, Spinal rigidity, Kyphosis, Abnormal muscle fiber morphology, F... |
ORPHA:75840 |
Mcdonough Syndrome |
|
Hypertelorism, Pectus excavatum, Cryptorchidism, Kyphosis, Synophrys, Aplasia/Hypoplasia of the a... |
ORPHA:2471 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli... |
OMIM:618727 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypospadias, Hypertelorism, Cryptorchidism, Polydactyly, Hypoplastic ischia |
OMIM:616910 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Bilateral cryptorchidism, Cryptorchidism, Hyper... |
OMIM:619542 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Turricephaly, Hypertelorism, Abnormal sacrum morphology, Brachycephaly, Abnormal... |
ORPHA:93262 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Gingival... |
OMIM:616331 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... |
ORPHA:536516 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of finger, Brachydactyly |
ORPHA:2787 |
Mast Cell Sarcoma |
|
Sarcoma |
ORPHA:66661 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Osteopathia striata, Low anterior hairline, Brachycephaly, Finger joint hyper... |
OMIM:212720 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Tapered finger, Hypertelorism, Long fingers, Flexion contracture, Low an... |
OMIM:218000 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Synophrys, Flexion contracture, Low anterior hairline, Low frustration tolerance, Clinodactyly of... |
OMIM:619293 |
Winchester Syndrome |
|
Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Hirsutism |
OMIM:277950 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Nephroblastoma, Rhabdomyosarcoma, Large for gestational age, Congenital di... |
ORPHA:116 |
Chung-Jansen Syndrome |
|
Impulsivity, Tapered finger, Hypertelorism, Cryptorchidism, Synophrys, Aggressive behavior, Deepl... |
OMIM:617991 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Pectus excavatum of inferior sternum, Small scrotum, Rocker bottom foot, Tapered finger, Hypertel... |
OMIM:601353 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Renal c... |
OMIM:614815 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Adrenal hyperplasia, Flexion contracture, Brachycephaly, Femoral bowing, Abno... |
ORPHA:95699 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
Microcephaly 16, Primary, Autosomal Recessive |
|
Knee flexion contracture, Cryptorchidism, Hypermelanotic macule, Adducted thumb |
OMIM:616681 |
Joubert Syndrome 37 |
|
Frontal bossing, Lumbar hyperlordosis, Postaxial polydactyly, Hypertelorism, Cryptorchidism, Hydr... |
OMIM:619185 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Torticollis, Brain neoplasm, Spinal cord tumor, Ovarian neoplasm, Perip... |
ORPHA:370348 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Cleft soft palate, Micrognathia, Abnormality of the dentition, Gingival... |
OMIM:618529 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Micrognathia, Split hand, Abnormal rib morphology, Webbed neck, In... |
ORPHA:2145 |
Mosaic Trisomy 14 |
|
Frontal bossing, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short neck, Hypertelo... |
ORPHA:1703 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Hydrocephalus, Abnormal rib morphology, Long thorax, Halberd... |
ORPHA:2635 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
Imagawa-Matsumoto Syndrome |
|
Hypertelorism, Cryptorchidism, Melanocytic nevus, Large hands, Camptodactyly, Clinodactyly, Hyper... |
OMIM:618786 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Flexion contracture, Widely s... |
ORPHA:90322 |
Polydactyly-Myopia Syndrome |
|
Cryptorchidism, Postaxial hand polydactyly |
ORPHA:2917 |
Hernia, Double Inguinal |
|
Inguinal hernia |
OMIM:142350 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara, Broad palm... |
ORPHA:93351 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Hypertelorism, Tapered finger, Synophrys, Brachycephaly, Horizontal eyebrow, Clinodactyly of the ... |
ORPHA:352530 |
Developmental And Epileptic Encephalopathy 70 |
|
Cryptorchidism, Flexion contracture, Scoliosis, Hypertelorism |
OMIM:618298 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Benign neoplasm of the central nervous system, 2-3 finger syndactyly, Hamartoma of tongue |
ORPHA:1338 |
Snijders Blok-Campeau Syndrome |
|
Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Umbilical hernia, Enamel hypoplasia |
OMIM:618205 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... |
OMIM:602196 |
Nance-Horan Syndrome |
|
Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor |
OMIM:302350 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Atte... |
ORPHA:3000 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Overlapping toe, Cryptorchidism, Flexion contracture, Low anterior hairline, Brach... |
OMIM:614225 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida |
ORPHA:2476 |
Becker Nevus Syndrome |
|
Micromelia, Pectus excavatum, Abnormal tibia morphology, Rib fusion, Spina bifida occulta, Upper ... |
ORPHA:64755 |
Acrocallosal Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Hypertelorism, Cryptorchidism, Postaxial hand polyd... |
ORPHA:36 |
Bethlem Myopathy 2 |
|
Scapular winging, Kyphosis, Flexion contracture, Hip dislocation, Myopathy, Scoliosis, Increased ... |
OMIM:616471 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Frontal bossing, Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism,... |
ORPHA:3363 |
Fibrochondrogenesis 2 |
|
Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplast... |
OMIM:614524 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Highly arched eyebrow, Short neck, Synophrys, Vertebral clefting, Renal hyp... |
OMIM:616854 |
Kbg Syndrome |
|
Syndactyly, Vertebral fusion, Single transverse palmar crease, Short neck, Hypertelorism, Epispad... |
OMIM:148050 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Single transverse palmar crease, Brachycephaly, Deeply set eye, Distally placed th... |
OMIM:619148 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma |
OMIM:606764 |
Oculoskeletodental Syndrome |
|
Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia, Retrognathia |
ORPHA:557003 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... |
ORPHA:2521 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Upper limb amyotrophy, Talipes equinovarus, Scoliosis, Lower limb amyotrophy, Foot dors... |
OMIM:617087 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:601390 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Pulp calcification, Taurodontia, Enamel hypoplasia |
OMIM:211900 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Polydactyly, Narrow chest, Talipes equinovarus, Polycysti... |
OMIM:613885 |
Chromosome 17P13.1 Deletion Syndrome |
|
Proximal placement of thumb, Short neck, Synophrys, Low anterior hairline, Brachycephaly, Knee fl... |
OMIM:613776 |
Miller-Dieker Syndrome |
|
Omphalocele |
ORPHA:531 |
Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Midface... |
ORPHA:93258 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Hypospadias, Facial palsy, Spinal muscular atrophy, Cryptorchidism, ... |
OMIM:301830 |
Warburg Micro Syndrome 4 |
|
Decreased muscle mass, Small scrotum, Cryptorchidism, Flexion contracture, Low anterior hairline,... |
OMIM:615663 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Pectus excavatum, Flexion contr... |
ORPHA:272 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Hyperextensibility at elbow, Recurrent fract... |
OMIM:610967 |
Tonne-Kalscheuer Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Concave nail, Hypertelorism, Cryptorchidism, Aggres... |
OMIM:300978 |
Hypomelanosis Of Ito |
|
Syndactyly, Alopecia, Hypertelorism, Kyphosis, Macular hypopigmented whorls, streaks, and patches... |
OMIM:300337 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,... |
ORPHA:957 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Spina bifida, Short neck, Hearing impairment, Low posterior hair... |
ORPHA:2345 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Congenital hip dislocation, Hypertelorism, Cryptorchidis... |
OMIM:619797 |
Nicolaides-Baraitser Syndrome |
|
Short palm, Alopecia, Sandal gap, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, ... |
ORPHA:3051 |
Intellectual Developmental Disorder, X-Linked 106 |
|
Hypospadias, Hypertelorism, Cryptorchidism, Synophrys, Frontal upsweep of hair, Clinodactyly of t... |
OMIM:300997 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Congenital hip dislocation, Left ventricular hypertrophy, Limited elbow movement, ... |
OMIM:300280 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly, Spindle-shaped ... |
ORPHA:166024 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Craniosynostosis, Hypertelorism, Brachycephaly, Melanocytic nevus, Proptosis, Midface retrusion |
OMIM:612247 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Frontal bossing, Hyperactivity, Lumbar hyperlordosis, Sandal gap, Broad hallux, Hyperlordosis, Hy... |
OMIM:616078 |
Moebius Syndrome |
|
Short neck, Congenital fibrosis of extraocular muscles, Lower limb undergrowth, Micropenis, Short... |
OMIM:157900 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Facial hypotonia, Aggressive behavior, Cryptorchidism, Kyphosis, Self-mutilation, Brachycephaly, ... |
ORPHA:364028 |
Fetal Minoxidil Syndrome |
|
Clinodactyly of the 5th finger, Cryptorchidism, Generalized hirsutism |
ORPHA:1918 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Narrow chest, Hepatic cysts, Brachydactyly |
OMIM:613819 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Tuberous Sclerosis 2 |
|
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep... |
OMIM:613254 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Aggressive behavior, Precocious puberty, Hypertelorism, Brachycephaly, Scoliosis |
OMIM:300958 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidis... |
ORPHA:3085 |
Omodysplasia 2 |
|
Clitoral hypoplasia, Limited elbow flexion, Clinodactyly of the 5th finger, Micropenis, Dislocate... |
OMIM:164745 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Hypospadias, Facial hypotonia, Cryptorchidism, 2-3 toe cutaneous syndactyly, Repetitive compulsiv... |
OMIM:300260 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Re... |
OMIM:603194 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
Diaphanospondylodysostosis |
|
Missing ribs, Myelomeningocele, Short thorax, Narrow pelvis bone, Enlarged thorax, Multiple renal... |
ORPHA:66637 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor |
OMIM:620062 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Hydrocephalus, Abnormal rib... |
ORPHA:2180 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hallux valgus, Broad hallux, Hypospadias, Facial hypotonia, Tapered finger, Pectus excavatum, Cry... |
OMIM:618659 |
Cranioectodermal Dysplasia |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted lower lip v... |
ORPHA:1515 |
Verheij Syndrome |
|
Branchial cyst, Optic nerve hypoplasia, Short neck, Coloboma, Intrauterine growth retardation, Tr... |
OMIM:615583 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Frontal bossing, Arachnodactyly, Facial hypotonia, Hypertelorism, Brachycephaly, Bilateral talipe... |
OMIM:615539 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Hyperactivity, Hypospadias, Sandal gap, Aggressive behavior, Crypto... |
OMIM:300354 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Large posterior fontanelle, Abnormal dental morphology, Tarsal synostosis, Aplastic clavicle, Del... |
ORPHA:85199 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short thorax, ... |
OMIM:617102 |
Warburg Micro Syndrome 3 |
|
Decreased muscle mass, Small scrotum, Kyphoscoliosis, Hypoplastic labia minora, Flexion contractu... |
OMIM:614222 |
Ovarian Fibrothecoma |
|
Fibrosarcoma, Diffuse leiomyomatosis, Ovarian fibroma |
ORPHA:314478 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Hemivertebrae, Brachycephaly, Short palm, Clinodactyly of the 5th finger, Micropenis, Highly arch... |
OMIM:156200 |
Cree Mental Retardation Syndrome |
|
Bifid scrotum, Hypospadias, Rocker bottom foot, Hypertelorism, Pectus excavatum, Cryptorchidism, ... |
OMIM:606851 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Wormian bones... |
ORPHA:166277 |
Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Hydrocephalus |
OMIM:210350 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Hamartoma of tongue, Pectus excavatum, Micrognathia, Hand ... |
OMIM:258860 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Craniosynostosis, Pectus excavatum, Bilateral cryptorchidism, Brachycephaly |
ORPHA:314575 |
Fetal Trimethadione Syndrome |
|
Hypospadias, Synophrys, Brachycephaly, Scoliosis, Ambiguous genitalia, Midface retrusion, Bilater... |
ORPHA:1913 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Short neck, Cryptorchidism, Kyphosi... |
ORPHA:3409 |
Microcephaly 27, Primary, Autosomal Dominant |
|
Trigonocephaly, Tapered finger, Metatarsus adductus, Cryptorchidism, Short finger, Clinodactyly o... |
OMIM:619180 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Sacral dimple, Highly arched eyebrow, Synophrys, Low anterior hairline, Vesicoureteral reflux, Br... |
OMIM:618828 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Narrow palm... |
ORPHA:177910 |
Rapp-Hodgkin Syndrome |
|
Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficiency, Small, c... |
OMIM:129400 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Cryptorchidism, Short thumb, Radioulnar synostos... |
OMIM:194350 |
Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Hypospadias, Cryptorchidism, Brachycephaly, Horseshoe kidney, Abnormal shape of ... |
OMIM:218350 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Micromelia, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis, Hype... |
ORPHA:1798 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis, Dysp... |
OMIM:618323 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Arachnodactyly, Kyphoscoliosis, Pectus excavatum, Cryptorchidism, Metatarsus adductus, Calcaneova... |
OMIM:612513 |
Smith-Magenis Syndrome |
|
Frontal bossing, Toe syndactyly, Hypertelorism, Precocious puberty, Synophrys, Abnormality of the... |
ORPHA:819 |
Distal Duplication 15Q |
|
Omphalocele, Intrauterine growth retardation, Camptodactyly of finger |
ORPHA:1707 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Wide anterior fontanel, ... |
ORPHA:313781 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition |
OMIM:216300 |
Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Cryptorchidism, Kyphosis, Limited elbow extension, Short metatarsal... |
OMIM:180870 |
Prieto Syndrome |
|
Coxa valga, Hypertelorism, Cryptorchidism, Talipes equinovarus, Radial deviation of finger, Clino... |
OMIM:309610 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... |
ORPHA:163971 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de... |
ORPHA:970 |
Acalvaria |
|
Omphalocele |
ORPHA:945 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... |
ORPHA:2496 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Autosomal Dominant Omodysplasia |
|
Bifid scrotum, Short humerus, Hypoplasia of penis, Frontal bossing, Rhizomelia, Hypertelorism, El... |
ORPHA:93328 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Rocker bottom foot, Short neck, Cryptorchidism, Hand clenching, Arthrogryposis multiplex congenita |
OMIM:618766 |
Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Spina bifida occulta, Upper limb... |
OMIM:607323 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... |
ORPHA:2712 |
48,Xxyy Syndrome |
|
Hypoplasia of penis, Flat occiput, Hypergonadotropic hypogonadism, Hypertelorism, Elbow dislocati... |
ORPHA:10 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Midface retrusion, Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradia... |
OMIM:207410 |
Williams-Beuren Region Duplication Syndrome |
|
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Cryptorchidism,... |
OMIM:609757 |
Fg Syndrome 3 |
|
Hyperactivity, Broad hallux, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Joi... |
OMIM:300406 |
Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cutaneous finger syndacty... |
OMIM:101200 |
Distal Deletion 10Q |
|
Single transverse palmar crease, Hypoplastic toenails, 2-3 toe cutaneous syndactyly, Functional a... |
ORPHA:96148 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Testicular neoplasm, Ileus, Ovarian neoplasm, Neoplasm of the central n... |
ORPHA:83469 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, High, ... |
OMIM:119600 |
Axial Spondylometaphyseal Dysplasia |
|
Thoracic scoliosis, Proximal femoral metaphyseal irregularity, Coxa vara, Deformed rib cage, Narr... |
ORPHA:168549 |
Image Syndrome |
|
Metaphyseal dysplasia, Frontal bossing, Hypospadias, Micromelia, Cryptorchidism, Hypogonadism, Hy... |
ORPHA:85173 |
Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... |
ORPHA:763 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Hypoplastic ischia, Increased vertebral heigh... |
ORPHA:2616 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Congenital muscular torticollis, Small scrotum, Hypotelorism, Hyperconve... |
ORPHA:2215 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Hypospadias, Decreased response to growth hormone stimulation test, Hypertelorism, He... |
OMIM:220210 |
Isolated Glycerol Kinase Deficiency |
|
Cryptorchidism, Myopathy, Scoliosis, Hyperlordosis |
ORPHA:408 |
Laurence-Moon Syndrome |
|
Polydactyly, Obesity, Abnormality of the hand |
OMIM:245800 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Abnormal rib m... |
ORPHA:2021 |
Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Alopecia, Turricephaly, Decreased response to growth hormone stimulation test, Cra... |
OMIM:601853 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Enamel hypoplasia, Widely spaced teeth |
OMIM:620193 |
Stickler Syndrome, Type Ii |
|
Arthropathy, Arachnodactyly, Micrognathia, Long fingers, High, narrow palate, Pierre-Robin sequen... |
OMIM:604841 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hypodontia, Scarring alopecia of scalp, Oligodontia, Abnormal dental enamel morphology |
ORPHA:59303 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa... |
OMIM:251450 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Oligodontia, High palat... |
OMIM:224300 |
Mehmo Syndrome |
|
Hypoplasia of penis, External genital hypoplasia, Tapered finger, Cryptorchidism, Agitation, Tali... |
ORPHA:85282 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Micro... |
ORPHA:2484 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma |
OMIM:601399 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Frontal bossing, Aplasia/Hypoplas... |
ORPHA:2256 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Arachnodactyly, Pectus excavatum, Brachycephaly, Plagiocephaly, Sparse hair, Scoliosis, Toe clino... |
OMIM:619910 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal metaphysis morphology, Abnormal rib morphology, Narrow chest, Mesomelic/rhizomelic limb ... |
ORPHA:1354 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Hypospadias, Fractured radius, Decreased fibular diameter, Short neck, Hypertelorism... |
OMIM:616897 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Broad hallux, Short neck, Hypertelorism, Abnormal hair whorl, Synophrys, Aggressive behavior, 2-3... |
OMIM:300860 |
Weaver Syndrome |
|
Short fourth metatarsal, Flat occiput, Single transverse palmar crease, Calcaneovalgus deformity,... |
OMIM:277590 |
Temple Syndrome |
|
Few cafe-au-lait spots, Frontal bossing, Decreased response to growth hormone stimulation test, P... |
ORPHA:254516 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Short neck, Bilateral cryptorchidism, Coronal hypospadias, Hypertelorism, Brachycephaly, Lumbar h... |
OMIM:619859 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Micrognathia, High, narrow palate, Fac... |
ORPHA:2780 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Broad eyebrow, Highly arched eyebrow, Aggressive behavior, Cryptorchidism, Kyphosis, Low anterior... |
OMIM:619244 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ... |
ORPHA:363417 |
4Q21 Microdeletion Syndrome |
|
Frontal bossing, Toe syndactyly, Micromelia, Short neck, Hypertelorism, Kyphosis, Synophrys, Smal... |
ORPHA:238750 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Flat occiput, Sparse facial hair, Decreased palmar creases, Triphalangeal thumb, Aplasia of the o... |
ORPHA:2232 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... |
ORPHA:93267 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Dental crowding, Delayed closure of the anterior fontanelle, Upper limb asymmetry, High palate, P... |
ORPHA:231140 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Hypertelorism, Coxa valga, Cryptorchidism, Finger clinodactyly, Bilateral talipes equinovarus |
ORPHA:2958 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Dentinogenesis imperfecta, Decreas... |
OMIM:259440 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
Aarskog-Scott Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Camptodactyly of finger, Short neck, Pectus e... |
ORPHA:915 |
Coffin-Siris Syndrome 11 |
|
Prominent metopic ridge, Cleft soft palate, Esophageal atresia, Small hand, Downturned corners of... |
OMIM:618779 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Histiocytoma, Limb muscle weakness, Myopath... |
OMIM:112250 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Absent eyebrow, ... |
ORPHA:189 |
Joubert Syndrome 16 |
|
Encephalocele, Polydactyly, Renal cyst |
OMIM:614465 |
Freeman-Sheldon Syndrome |
|
Camptodactyly of finger, Hypertelorism, Cryptorchidism, Ulnar deviation of finger, Deeply set eye... |
ORPHA:2053 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Pectus excavatum, Flattened epiphysis, Genu valgum, Pectus ... |
OMIM:607131 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Sparse scalp hair, Sagittal craniosynostosis, Hypertelorism, Sparse eyebrow, Hypoplastic toenails... |
ORPHA:459061 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Supernumerary nipple, Aggressive behavior, Hypertelorism, Synophrys, Brachycephaly |
OMIM:616083 |
Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Hypertelorism, Abnormal sacrum morphology, Hypopigmented skin patc... |
ORPHA:207 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, ... |
ORPHA:83 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the... |
OMIM:170390 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Diastema, Deep philtrum, Talon cusp, Cleft palate, Microdontia |
OMIM:605282 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Bilateral c... |
OMIM:305400 |
Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Tapered finger, Pectus excavatum, Short neck, Hypertelorism, Sma... |
ORPHA:284180 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Oral mucosal blisters, Carious teeth, Atypical scarring of skin, Atrophic scars, Keloids, Enamel ... |
ORPHA:79410 |
2P15P16.1 Microdeletion Syndrome |
|
Brachycephaly, Bilateral single transverse palmar creases, Multicystic kidney dysplasia, Facial p... |
ORPHA:261349 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Congenital hip dislocation, Ulnar deviation of the 3rd finger, Facial palsy, Proximal placement o... |
ORPHA:456312 |
Branchiootic Syndrome 1 |
|
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... |
OMIM:602588 |
Hamamy Syndrome |
|
Long toe, Syndactyly, Hypoparathyroidism, Sparse eyelashes, Down-sloping shoulders, Craniosynosto... |
OMIM:611174 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Delayed eruption of primary te... |
OMIM:620099 |
Chromosome 10Q26 Deletion Syndrome |
|
Small scrotum, Congenital hip dislocation, Single transverse palmar crease, Short neck, 2-3 toe c... |
OMIM:609625 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Sparse scalp hair, Abnormal intervertebral disk morphology, Abnormal fingernail morphology, Hyper... |
ORPHA:2701 |
Monosomy 5P |
|
Microretrognathia, Finger syndactyly, High palate, Small hand |
ORPHA:281 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis, Increased v... |
OMIM:300718 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contracture, 1-4 toe s... |
OMIM:617201 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79409 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... |
OMIM:204690 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Craniofacial osteosclerosis, Di... |
OMIM:122860 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Hypomimic face, Low anterior hairline, Brachycephaly, Short neck |
ORPHA:320385 |
Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the... |
OMIM:255800 |
Proximal 16P11.2 Microduplication Syndrome |
|
Frontal bossing, Arachnodactyly, Sparse eyelashes, Congenital diaphragmatic hernia, Hypertelorism... |
ORPHA:370079 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... |
ORPHA:2751 |
Bardet-Biedl Syndrome 3 |
|
Obesity, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Rhabdoid Tumor |
|
Neoplasm of the central nervous system, Renal neoplasm, Sarcoma |
ORPHA:69077 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Intestinal... |
OMIM:300963 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:615546 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe... |
ORPHA:88630 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Thin ribs... |
OMIM:300863 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Single transverse palmar crease, Synophrys, Low anterior hairline, Compulsive behaviors, Clinodac... |
OMIM:617061 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Short lingual frenulum, Postaxial pol... |
OMIM:614091 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... |
OMIM:619795 |
Chopra-Amiel-Gordon Syndrome |
|
Unilateral renal agenesis, Brachycephaly, Deeply set eye, Scoliosis, Attention deficit hyperactiv... |
OMIM:619504 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Impulsivity, Tapered finger, Hypertelorism, Cryptorchidism, Synophrys, 2-3 toe syndactyly, Attent... |
ORPHA:589905 |
Hogue-Janssen Syndrome 2 |
|
Broad hallux, Facial hypotonia, Postaxial polydactyly, Unilateral renal agenesis, Pectus excavatu... |
OMIM:616362 |
15Q24 Microdeletion Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Proximal placement of thumb, ... |
ORPHA:94065 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thumb, Preaxial hand ... |
ORPHA:1120 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders,... |
ORPHA:85293 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Pierre-Robin sequence, Cleft palate, Oligodontia, Thick vermilion border, Hypodo... |
OMIM:619184 |
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Skeletal muscle atrophy, Unilateral cryptorchidism, Brachycephaly, Plagiocephaly, High anterior h... |
OMIM:618862 |
N Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:2608 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the... |
OMIM:609616 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Holt-Oram Syndrome |
|
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... |
ORPHA:392 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentation of the retina, Polydips... |
OMIM:615994 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thum... |
ORPHA:435638 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele |
OMIM:614450 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, Proximal placement of thumb, Limited elbow movement, Short neck,... |
OMIM:610759 |
Larsen-Like Syndrome |
|
Frontal bossing, Kyphoscoliosis, Hypertelorism, Brachycephaly, Talipes equinovarus, Radial deviat... |
OMIM:608545 |
Adenylosuccinate Lyase Deficiency |
|
Flat occiput, Brachycephaly |
ORPHA:46 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Recurrent fractures, Femoral bowing, Increased susceptibility to fractu... |
OMIM:166200 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Turricephaly, Congenital abnormal hair pattern, External genital hypoplasia, Tapered fi... |
ORPHA:1867 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Hypomimic face, Low anterior hairline, Brachycephaly, Short neck |
OMIM:615031 |
Cerebrooculonasal Syndrome |
|
Hypoplasia of penis, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Postaxial hand polydactyly,... |
ORPHA:66625 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Hypertelorism, Non-obstructive azoospermia, C... |
ORPHA:432 |
Usher Syndrome Type 1 |
|
Abnormal dental enamel morphology |
ORPHA:231169 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Hyperactivity, Hypertelorism, Bilateral cryptorchidism, C... |
OMIM:617796 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Renal insufficiency, Flat occiput, Highly arched eyebrow, Hypertelorism, Cry... |
ORPHA:96147 |
Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Carious teeth, Hypoplasia of teeth |
OMIM:613312 |
Coffin-Siris Syndrome 6 |
|
Micrognathia, High, narrow palate, Deep philtrum, Cleft palate, Short philtrum, Wormian bones, Cl... |
OMIM:617808 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W... |
OMIM:618067 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... |
OMIM:609166 |
Achondrogenesis Type 1B |
|
Micromelia, Micrognathia, Short thorax, Abnormal rib morphology, Short foot, Narrow chest, Talipe... |
ORPHA:93298 |
Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Hypoplast... |
OMIM:607778 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Sandal gap, Single transverse palmar crease, Rocker bottom foot, Camptodactyly of ... |
OMIM:619951 |
Lig4 Syndrome |
|
Cryptorchidism, Low anterior hairline, Brachycephaly, Hypotelorism, Clinodactyly of the 5th finge... |
OMIM:606593 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Short neck, Pectus e... |
ORPHA:163654 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
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Cryptorchidism, Increased circulating gonadotropin level, Small hand, Short foot, Deeply set eye,... |
OMIM:300869 |
Sweeney-Cox Syndrome |
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2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Flat occiput, Hypertelorism, Bilateral cr... |
OMIM:617746 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Capitate-hamate fusion, Enlargement of the costochondral... |
OMIM:271650 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
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Arthrogryposis multiplex congenita, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters |
OMIM:226730 |
Branchiootic Syndrome |
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Branchial fistula, Facial palsy, Sensorineural hearing impairment, Atresia of the external audito... |
ORPHA:52429 |
Potocki-Shaffer Syndrome |
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Parietal foramina, Micropenis, Brachycephaly |
ORPHA:52022 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Hyperactivity, Kyphoscoliosis, Aggressive behavior, Anorexia, Abnormal fear-induced behavior, Irr... |
ORPHA:3077 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
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Pectus excavatum, Kyphosis, Congenital fibrosis of extraocular muscles, Highly arched eyebrow |
OMIM:609384 |
Meckel Syndrome, Type 3 |
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Occipital encephalocele, Multicystic kidney dysplasia, Postaxial hand polydactyly, Hydrocephalus,... |
OMIM:607361 |
Schneckenbecken Dysplasia |
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Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later... |
OMIM:269250 |
Difference Of Sex Development-Intellectual Disability Syndrome |
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Hypoplasia of penis, Small scrotum, Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Genu ... |
ORPHA:2983 |
Tooth Agenesis, Selective, 3 |
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Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia |
OMIM:604625 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
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Short metacarpal, Rhizomelia, Cupped ribs, Metaphyseal widening, Dental malocclusion, Coxa vara, ... |
OMIM:608940 |
Ruvalcaba Syndrome |
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Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Kyphosi... |
ORPHA:3121 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
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Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short neck, Hy... |
OMIM:614800 |
Charlie M Syndrome |
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Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly |
ORPHA:1406 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
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Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... |
ORPHA:440354 |
Kleefstra Syndrome |
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Hypoplasia of penis, Renal insufficiency, Hypospadias, Highly arched eyebrow, Supernumerary nippl... |
ORPHA:261494 |
Chromosome 17Q12 Duplication Syndrome |
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Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly |
OMIM:614526 |
Lung Cancer |
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Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
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Skeletal muscle atrophy, Sacral dimple, Congenital hip dislocation, Femur fracture, Single transv... |
OMIM:618291 |
Acrofacial Dysostosis, Catania Type |
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Hypospadias, Single transverse palmar crease, Cryptorchidism, Widow's peak, Short palm, Spina bif... |
OMIM:101805 |
Alagille Syndrome |
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Hypoplasia of the ulna, Frontal bossing, Hypertelorism, Cryptorchidism, Abnormality of the ureter... |
ORPHA:52 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
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Arachnodactyly, Short neck, Hypertelorism, Calcaneovalgus deformity, Adducted thumb, Flexion cont... |
ORPHA:562528 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
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Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Cupped ribs, Obesity... |
OMIM:250420 |
Carpenter Syndrome 2 |
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Single transverse palmar crease, Short neck, Bilateral cryptorchidism, Preaxial polydactyly, Low ... |
OMIM:614976 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morphology, Aggressive beh... |
ORPHA:208441 |
Cole-Carpenter Syndrome 2 |
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Osteopenia, Microretrognathia, Wide cranial sutures, Recurrent fractures, Thin ribs, High palate,... |
OMIM:616294 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
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Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, S... |
OMIM:213980 |
Usher Syndrome Type 2 |
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Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:231178 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
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Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Flared met... |
OMIM:602471 |
Cdags Syndrome |
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Sparse scalp hair, Frontal bossing, Hypospadias, Sparse eyelashes, Sagittal craniosynostosis, Rec... |
OMIM:603116 |
Robinow Syndrome, Autosomal Recessive 1 |
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Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ... |
OMIM:268310 |
Intellectual Developmental Disorder, X-Linked 1 |
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Brachycephaly, Aggressive behavior |
OMIM:309530 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
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Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Elbow dislocation,... |
ORPHA:2249 |
Familial Isolated Hypoparathyroidism |
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Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:2238 |
Juberg-Hayward Syndrome |
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Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of... |
ORPHA:2319 |
Autosomal Recessive Kenny-Caffey Syndrome |
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Stenosis of the medullary cavity of the long bones, Carious teeth, Small hand, Thin ribs, Short f... |
ORPHA:93324 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
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Osteopenia, Short humerus, Rhizomelia, Micrognathia, Submucous cleft hard palate, Large fontanell... |
OMIM:222765 |
Potocki-Shaffer syndrome |
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Delayed cranial suture closure |
DECIPHER:34 |
47,Xyy Syndrome |
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Male infertility, Hyperactivity, Hypospadias, Impulsivity, Hypertelorism, Cryptorchidism, Increas... |
ORPHA:8 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
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Bowing of the long bones, Radial bowing, Micrognathia, Aqueductal stenosis, Abnormal rib morpholo... |
ORPHA:3035 |
Kbg Syndrome |
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Vertebral fusion, Single transverse palmar crease, Abnormal hair pattern, Short neck, Hypertelori... |
ORPHA:2332 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Hyperlordosis, Cryptorchidism, Flexion contracture, Hip dislocation, Skeletal muscl... |
OMIM:613156 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Mesoaxial hand polydactyly, External genital hypoplasia, Postaxial polydacty... |
OMIM:615996 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
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Syndactyly, Single transverse palmar crease, Highly arched eyebrow, Hypertelorism, Synophrys, Ver... |
OMIM:614701 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Malar flattening, Enamel h... |
OMIM:618874 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna... |
OMIM:165590 |
Noonan Syndrome 13 |
|
Short neck, Generalized hirsutism, Highly arched eyebrow, Tapered finger, Hypertelorism, Cryptorc... |
OMIM:619087 |
Aase-Smith Syndrome I |
|
Cleft palate, Flexion contracture, Congenital neuroblastoma, Dandy-Walker malformation |
OMIM:147800 |
Stickler Syndrome, Type I |
|
Arthropathy, Arachnodactyly, Joint stiffness, Micrognathia, Irregular femoral epiphysis, Submucou... |
OMIM:108300 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Encephalocele, Preaxial polydactyly, Preaxial foot... |
OMIM:603671 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Clin... |
OMIM:117650 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent... |
ORPHA:178303 |
Grant Syndrome |
|
Tibial bowing, Wormian bones, Down-sloping shoulders, Micrognathia |
OMIM:138930 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies |
|
Hallux valgus, Mandibular prognathia, Swan neck-like deformities of the fingers, High, narrow pal... |
OMIM:619880 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Obesity, Postaxial polydactyly |
OMIM:605231 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Frontal bossing, Facial hypotonia, Short neck, Tapered finger, Brachycephaly, Pl... |
OMIM:616801 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Bifid scrotum, Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Hypospadias, S... |
ORPHA:2211 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... |
OMIM:257850 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing,... |
OMIM:223800 |
Warburg Micro Syndrome 1 |
|
Overlapping toe, External genital hypoplasia, Kyphoscoliosis, Cryptorchidism, Deeply set eye, Fac... |
OMIM:600118 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Skeletal muscle atrophy, Hypertelorism, Pectus excavatum, Brachycephaly, Plagiocephaly |
OMIM:618603 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ... |
ORPHA:2251 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Malar flattening, Amelogenesis imperfecta |
OMIM:614727 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Vertebral fusion, Down-sloping shoulders, Hypertelorism, Pectus excavatum, Cryptorchi... |
OMIM:227330 |
Xeroderma Pigmentosum, Complementation Group E |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
OMIM:278740 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Brachycephaly, Decreased testicular size |
ORPHA:93950 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,... |
ORPHA:163966 |
9P13 Microdeletion Syndrome |
|
Thick eyebrow, External genital hypoplasia, Highly arched eyebrow, Hyperconvex nail, Precocious p... |
ORPHA:324313 |
Donnai-Barrow Syndrome |
|
Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia |
ORPHA:2143 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Shoulder muscle hypoplasia, Neck muscle hypoplasia, Sprengel anom... |
OMIM:184400 |
Familial Colorectal Cancer Type X |
|
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... |
ORPHA:440437 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Congenital diaphragmatic hernia |
OMIM:601163 |
White Forelock With Malformations |
|
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi... |
ORPHA:2475 |
Qazi-Markouizos Syndrome |
|
High, narrow palate, Open mouth, Broad philtrum, Hypoplasia of teeth |
ORPHA:3010 |
Suleiman-El-Hattab Syndrome |
|
Thick eyebrow, Single transverse palmar crease, Highly arched eyebrow, Frontal hirsutism, Hyperte... |
OMIM:618950 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Intrauterine ... |
ORPHA:1506 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Short pha... |
OMIM:177170 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Recurrent fractures, Increased susceptibility to fractures, Reduced bone mineral de... |
OMIM:166220 |
Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Myelomeningocele, Abnormal rib morpho... |
ORPHA:2876 |
Trigonocephaly 1 |
|
Omphalocele |
OMIM:190440 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Congenital hip dislocation, Synophrys, Low anterior hairline, Brachycephaly, Hypotelorism, Hypopl... |
OMIM:619512 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hip contracture, Bowing of the long bones, Hyperphosphaturia, Hypertelorism, ... |
OMIM:156400 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Neoplasm of the nervous system, Aganglionic megacolon, Ganglioneuroblastoma |
ORPHA:2151 |
Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Decreased muscle mass, Arachnodactyly, Decreased palmar crea... |
OMIM:108145 |
8Q12 Microduplication Syndrome |
|
Highly arched eyebrow, Brachycephaly, Short foot, Attention deficit hyperactivity disorder, Vesic... |
ORPHA:228399 |
Jalili Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ... |
OMIM:600920 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Aplasia/Hypoplasia of the ribs, Camptodactyly of finger, Fifth finger distal phalanx ... |
ORPHA:2839 |
Seckel Syndrome 1 |
|
Dental crowding, Selective tooth agenesis, Micrognathia, Dental malocclusion, Elbow flexion contr... |
OMIM:210600 |
Wiedemann-Steiner Syndrome |
|
Elbow hypertrichosis, Synophrys, Clinodactyly of the 5th finger, Short phalanx of finger, General... |
OMIM:605130 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Skeletal muscle atrophy, Flexion contracture, Brachycephaly, Hypotelorism, Deeply set eye, Microp... |
OMIM:309590 |
20Q11.2 Microduplication Syndrome |
|
Bifid scrotum, Sacral dimple, Trigonocephaly, Pectus excavatum, Cryptorchidism, Brachycephaly, Sh... |
ORPHA:363659 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation, Craniosynostosis, Coxa valga, Brachycephaly, Hypotelorism, H... |
ORPHA:2163 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Lateral cla... |
OMIM:617895 |
Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Macrodactyly, Hand oligodactyly, Hand polydactyly, Hemangioma |
OMIM:149000 |
Prader-Willi Syndrome |
|
Decreased muscle mass, Small scrotum, External genital hypoplasia, Decreased response to growth h... |
OMIM:176270 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Hypoplastic toenails, Abnormal tibia morphology, Synophrys, Low anterior hairline, Ve... |
ORPHA:251014 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, Kyphoscoli... |
ORPHA:1145 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Congenital diaphragmatic hernia, Short neck, Brachycephaly, Shoulder dislocation, Dislocated radi... |
OMIM:245600 |
Non-Distal Duplication 13Q |
|
Arachnodactyly, Abnormal fingernail morphology, Abnormal eyelash morphology, Cryptorchidism, Post... |
ORPHA:1702 |
Bor Syndrome |
|
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... |
ORPHA:107 |
Kleefstra Syndrome 2 |
|
Kyphosis, Plagiocephaly, Self-injurious behavior, Scoliosis, Midface retrusion, Thick eyebrow |
OMIM:617768 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Cryptorchidism, Kyphosis, Low posterior hairline, Premature graying of ha... |
ORPHA:2617 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd... |
OMIM:614175 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Short neck, Ectopic kid... |
OMIM:122470 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Cryptorchidism, Brachycephaly, Genu valgum, Hypotelorism, Irritability, Posterior pl... |
OMIM:617798 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal reproductive system morphology, Hypopigmentation of hair, Brachycephaly, Dysphagia |
ORPHA:70472 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,... |
ORPHA:1133 |
Acromelic Frontonasal Dysplasia |
|
Anterior pituitary hypoplasia, Hypertelorism, Cryptorchidism, Brachycephaly, Patellar hypoplasia,... |
ORPHA:1827 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... |
ORPHA:2658 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... |
OMIM:609945 |
7Q11.23 Microduplication Syndrome |
|
Single transverse palmar crease, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Brac... |
ORPHA:96121 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Mmep Syndrome |
|
Cryptorchidism, Split foot, Triphalangeal thumb |
ORPHA:3434 |
Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Frontal bossing, Hypoplastic fingernail, Hypoplastic toenails, Hypoplastic fifth fingernail, Brac... |
ORPHA:1292 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy, Micrognathia, Abnormality of the elbow, Abnormal rib morphology, Slender... |
ORPHA:1486 |
Borjeson-Forssman-Lehmann Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Small scrotum, Tapered finger, Cryptorchidism, Shor... |
ORPHA:127 |
X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Retract... |
ORPHA:163976 |
Chst3-Related Skeletal Dysplasia |
|
Barrel-shaped chest, Short metacarpal, Rhizomelia, Kyphoscoliosis, Highly arched eyebrow, Sparse ... |
ORPHA:263463 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Micrognathia, Preaxial polydactyly, Cleft palate, Wide m... |
OMIM:243605 |
Loeys-Dietz Syndrome 5 |
|
Smooth philtrum, Scapular winging, Tented upper lip vermilion, Arachnodactyly, Cleft soft palate,... |
OMIM:615582 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Large intestinal polyposis, Colo... |
ORPHA:247798 |
Li-Campeau Syndrome |
|
Single transverse palmar crease, Hypertelorism, Cryptorchidism, Patellar hypoplasia, Micropenis, ... |
OMIM:619189 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Distal Deletion 10P |
|
Hypoplasia of penis, Abnormal fingernail morphology, Short neck, Hypoplastic toenails, Cryptorchi... |
ORPHA:1580 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Wormian bones, Anterior rib cupping, Metaphyseal widening, Flexion contracture, Broad palm, Coxa ... |
OMIM:300232 |
Endocardial Fibroelastosis |
|
Anterior hypopituitarism, Cryptorchidism, Hypoplasia of penis, Sandal gap |
ORPHA:2022 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Sparse facial hair, Sparse eyelashes, Fair hair, Spa... |
OMIM:250250 |
Curry-Jones Syndrome |
|
Bicoronal synostosis, Anal stenosis, Wormian bones, Intestinal pseudo-obstruction, Duplication of... |
OMIM:601707 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Flexion contracture, Deeply set eye, Low frustration tolerance, Micropenis, Distal lower limb amy... |
OMIM:300534 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly, Oligodactyly |
OMIM:614416 |
Noonan Syndrome With Multiple Lentigines |
|
Scapular winging, Hypospadias, Hypertelorism, Pectus excavatum, Cryptorchidism, Aplasia/Hypoplasi... |
ORPHA:500 |
Joubert Syndrome 20 |
|
4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Frontal bossing, Sandal gap, Supernumerary nipple, Hypertelorism, Pectus excavatum, Cryptorchidis... |
OMIM:612530 |
W Syndrome |
|
Hypoplasia of the ulna, Radial bowing, Broad uvula, Metatarsus adductus, Elbow dislocation, Submu... |
ORPHA:2804 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap... |
OMIM:608728 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Monosomy 9P |
|
Proximal placement of thumb, Short neck, Congenital diaphragmatic hernia, Synophrys, Brachycephal... |
ORPHA:261112 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Microretrognathi... |
OMIM:616229 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Bilateral single transverse palmar creases, Hypertelorism, Kyphosis, Synophrys, Scoliosis, Hypert... |
ORPHA:85317 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Hypospadias, Cryptorchidism, Short middle phalanx of finger, Talipes equinovarus, Micropenis, Bra... |
OMIM:612626 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Frontal bossing, Hypospadias, Short neck, Hypertelorism, Cryptorchidism, Short toe, Flexion contr... |
ORPHA:98791 |
Al Kaissi Syndrome |
|
Sacral dimple, Torticollis, Hypertelorism, Synophrys, Hemivertebrae, Small hand, Brachycephaly, D... |
OMIM:617694 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Oral mucosal blisters, Flexion contracture, Corneal scarring, Atrophic scars, Narrow mouth, Ename... |
OMIM:226600 |
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome |
|
Single transverse palmar crease, Cryptorchidism, Synophrys, 2-3 toe syndactyly, Horseshoe kidney,... |
ORPHA:502434 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Limited elbow extension and supination, Ectopic kidney, Hypertelorism, Cryptorchidism, Short thum... |
ORPHA:401935 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Decreased muscle mass, Hypospadias, Arachnodactyly, Kyphoscoliosis, Ectopic kidney, Pec... |
ORPHA:3063 |
Congenital Disorder Of Glycosylation, Type Il |
|
Frontal bossing, Hypertelorism, Short neck, Kyphosis, Hip dislocation, Brachycephaly, Polycystic ... |
OMIM:608776 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aplasia of the pectoralis major... |
ORPHA:2911 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thick hair, Kyphosis, Synophrys, Low posterior hairline, Deeply set eye, Scoliosis, Thick eyebrow |
ORPHA:2429 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Cryptorchidism, Self-mutilation, Genu varum |
OMIM:604317 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Arachnodactyly, Aggressive behavior, Pectus excavatum, Cryptorchidism, Talipes equinovarus, Scoli... |
OMIM:301039 |
Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
Scarf Syndrome |
|
Inguinal hernia, Long philtrum, Umbilical hernia, Enamel hypoplasia, Hypocalcification of dental ... |
ORPHA:3134 |
Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n... |
OMIM:206920 |
Tarp Syndrome |
|
Rocker bottom foot, Postaxial polydactyly, Micrognathia, Single transverse palmar crease, Hypopla... |
OMIM:311900 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypertelorism, Coxa valga, Hip dislocation, Brachycephaly, Abnormality of the vertebral column, P... |
OMIM:109120 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility, Centrally nucleated skeletal muscle fibers, ... |
OMIM:619518 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Long toe, Unilateral cryptorchidism, Aggressive behavior, Cryptorchidism, Fixated interests, Tics... |
OMIM:617788 |
Neurofaciodigitorenal Syndrome |
|
Abnormal distal phalanx morphology of finger, Unilateral renal agenesis, Hypertelorism, Pectus ex... |
ORPHA:2673 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... |
OMIM:606612 |
Larsen Syndrome |
|
Finger syndactyly, Brachydactyly, Short nail, Craniosynostosis, Hypertelorism, Cryptorchidism, Ac... |
ORPHA:503 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Short palm, Flared, irregular rib ends, Micromelia, Coxa vara |
ORPHA:168555 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Hypertelorism, Crypto... |
ORPHA:2075 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... |
OMIM:616415 |
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Enlarged interphalangeal joints, Proximal placement of thumb, Highly arched eyebrow, Hyperteloris... |
ORPHA:2988 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Camptodactyly of finger, Acute rhabdomyolysis, Kyphosis, Long eyel... |
ORPHA:48431 |
Adnp Syndrome |
|
Single transverse palmar crease, Urinary incontinence, Oral-pharyngeal dysphagia, Abnormal finger... |
ORPHA:404448 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta |
ORPHA:166272 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Small scrotum, Single transverse palmar crease, Highly arched eyebrow, Short neck, Abnormal hair ... |
ORPHA:495818 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi... |
OMIM:210710 |
Gastrointestinal Stromal Tumor |
|
Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal stroma tumor, Esophageal neopla... |
ORPHA:44890 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Small scrotum, Bilateral single transverse palmar creases, Camptodactyly of ... |
ORPHA:2083 |
Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ... |
ORPHA:1512 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Pectus excavatum, Cryptorchidism, Prima... |
OMIM:244200 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Rhizomelia, Protru... |
OMIM:610682 |
Cri-Du-Chat Syndrome |
|
Syndactyly, Short metacarpal, Hyperactivity, Hypospadias, Single transverse palmar crease, Diasta... |
OMIM:123450 |
Ohdo Syndrome |
|
Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Narrow mouth, Smoo... |
OMIM:249620 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Sacral dimple, Single transverse palmar crease, Short neck, Bilateral cryptorchidism, Hypertelori... |
OMIM:613544 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Spinal rigidity, Pectus excavatum, Cryptorchidism, Centrally nucleat... |
ORPHA:486815 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Low anterior hairline, Brachycephaly, Scoliosis, Lambdoidal craniosynostosis, Spina... |
OMIM:618736 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Frontal bossing, Highly arched eyebrow, Tapered finger, Supernumerary nipple, Cryptorchidism, Sho... |
OMIM:616728 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... |
ORPHA:753 |
9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Cryptorchidism, Hip dysplasia, Vertebral segmentation defect, Polydactyly, Scol... |
ORPHA:531151 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Frontal bossing, Rocker bottom foot, Short neck, Pectus excavatum, Hypertelorism, Brac... |
OMIM:612582 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Primary amenorrhea, Azoospermia, Hypogonadism, Infertility, Decreased testicular size |
OMIM:229070 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand |
OMIM:603543 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Campomelic Dysplasia |
|
Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel... |
OMIM:114290 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Crouzon Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Hypertelorism, Brachycephaly, Proptosis, Lambdoidal c... |
OMIM:123500 |
Xeroderma Pigmentosum, Complementation Group C |
|
Actinic keratosis, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma |
OMIM:278720 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Micrognathia, Elbow dislocation, Hypoplasia of the maxilla, Irregular fe... |
OMIM:613805 |
Monosomy 18P |
|
Alopecia, Kyphoscoliosis, Short neck, Pectus excavatum, Brachycephaly, Low posterior hairline, Br... |
ORPHA:1598 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border |
OMIM:620114 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Micromelia, Micrognathia, Short thorax, Short foot, Narrow chest, Short p... |
ORPHA:93299 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Hyperactivity, Frontal bossing, Sparse eyelashes, Abnormality of the hand, Hyp... |
OMIM:234100 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
Pelger-Huet Anomaly |
|
Frontal bossing, Foot dorsiflexor weakness, Hypertelorism, Kyphosis, Upper limb undergrowth, Lowe... |
OMIM:169400 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cryptorchidism, Short metacarpal, Short thumb |
ORPHA:2489 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Short tibia, Ar... |
ORPHA:93323 |
Lynch Syndrome |
|
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... |
ORPHA:144 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Thin bony cortex, Ost... |
ORPHA:289157 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Dental crowding, Micrognathia, Narrow mouth, Flexion contracture, Hypoplasia of teeth, High palat... |
OMIM:608612 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... |
ORPHA:454840 |
Osteoglophonic Dysplasia |
|
Short neck, Hypoplastic toenails, Short metatarsal, Short palm, Shallow orbits, Short phalanx of ... |
OMIM:166250 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Craniosy... |
ORPHA:1553 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Enuresis, Irritability, Tics, ... |
ORPHA:66624 |
Distal Monosomy 7Q36 |
|
Hypoplasia of penis, Short neck, Pectus excavatum, Cryptorchidism, Symphalangism affecting the ph... |
ORPHA:1636 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Cleft palate, Ecto... |
ORPHA:2994 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly |
ORPHA:588 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Frontal bossing, Aplasia/Hypoplasia of... |
ORPHA:1225 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Congenital hip dislocation, Renal insufficiency, Hydroureter, Pectu... |
ORPHA:2970 |
Pseudovaginal Perineoscrotal Hypospadias |
|
Bifid scrotum, Abnormal hair morphology, Cryptorchidism, Perineal hypospadias, Ambiguous genitali... |
OMIM:264600 |
Trichohepatoneurodevelopmental Syndrome |
|
Synophrys, Brachycephaly, Coarse hair, Bilateral coxa valga, Clinodactyly of the 5th finger, Thor... |
OMIM:618268 |
3Mc Syndrome 3 |
|
Bifid scrotum, Sacral dimple, Diastasis recti, Highly arched eyebrow, Hypertelorism, Cryptorchidi... |
OMIM:248340 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Congenital muscular torticollis, Vaginal hernia, Elbow dislocation, Kyphosis, P... |
ORPHA:2916 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Micrognathia, High palate, Short palm, Short phalanx of finger, Cortical irregularity... |
OMIM:249420 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Rocker bottom foot, Kyphoscoliosis, Coxa valga, Cryptorchidism, Flexion contracture, Elbow flexio... |
OMIM:214150 |
Braddock Syndrome |
|
Congenital muscular torticollis, Missing ribs, Pectus excavatum, Preaxial hand polydactyly, Micro... |
ORPHA:52047 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... |
ORPHA:50814 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia |
OMIM:301060 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Multicystic kidney dysplasia, Micromelia, Myelodysplasia, Pancreatic cy... |
ORPHA:1318 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Cryptorchidism |
ORPHA:1074 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, Postaxial polydactyly, Abnormal eating behavior, Deeply set eye, Recurrent hand flap... |
ORPHA:544254 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Midface retrusion, Craniofacial hype... |
ORPHA:3219 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Micromelia, Hypertelorism, Cryptorchidism, Decreased calvarial ossification,... |
ORPHA:2772 |
Distal Deletion 12Q |
|
Single transverse palmar crease, Short neck, Ectopic kidney, Brachycephaly, Aplasia/Hypoplasia of... |
ORPHA:96149 |
Retinoblastoma |
|
Lymphoma, Cleft palate, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Eiken Syndrome |
|
Broad femoral neck, Persistence of primary teeth, Delayed epiphyseal ossification, Multiple uneru... |
OMIM:600002 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Long toe, Sparse scalp hair, Skeletal muscle atrophy, Arachnodactyly, Sparse eyelashes, Kyphoscol... |
ORPHA:75496 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Torticollis, Turricephaly, Broad hallux, Tapered finger, Pectus excavatum, Cryptorchidism, Short ... |
OMIM:620224 |
Schisis Association |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:63862 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:612462 |
Smith-Mccort Dysplasia 1 |
|
Barrel-shaped chest, Short metacarpal, Multicentric femoral head ossification, Iliac crest serrat... |
OMIM:607326 |
Trisomy 13 |
|
Abnormal eyelash morphology, Cryptorchidism, Postaxial hand polydactyly, Kyphosis, Abnormality of... |
ORPHA:3378 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Missing ribs, Short thorax, Abnormal rib morphology, Posterior rib fusion, Intrauterine growth re... |
ORPHA:1797 |
Colonic Atresia |
|
Omphalocele, Gastroschisis |
ORPHA:1198 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Craniosynostosis, Hip dislocation, Genu varum, Deep palmar crease, High palate, Clino... |
OMIM:619451 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Flat occiput, Brachycephaly |
ORPHA:2898 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Abnormal palate morphology |
ORPHA:3236 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Overlapping toe, Hypospadias, Hyperconvex nail, Tapered finger, Limb joint contracture, Cryptorch... |
OMIM:300004 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Narrow palate, Hypoplasia of teeth, Wide mouth, Short philtrum, Thick vermilion bor... |
OMIM:620250 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Premature ovarian insufficiency, Kyphosis, Split hand, Scoliosis, Foot dorsiflexor weakness |
OMIM:618124 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Omphalocele, Prune belly |
OMIM:601389 |
Lowry-Maclean Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxilla, High, ... |
ORPHA:2409 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Pectus excavatum, Brachycephaly, Hypotelorism, Deeply set eye, Palmoplantar cutis laxa, Spina bif... |
OMIM:268850 |
Rahman Syndrome |
|
Kyphoscoliosis, Cryptorchidism, Talipes equinovarus, Camptodactyly, High anterior hairline |
OMIM:617537 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Alopecia, Turricephaly, Hypertelorism, Kyphosis, Abnormality of the elbow, Hip... |
ORPHA:1005 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Craniosynostosis, Hypertelorism, Bilateral cryptorchidism, Sp... |
OMIM:613451 |
Mosaic Trisomy 8 |
|
Frontal bossing, Camptodactyly of finger, Short neck, Hypertelorism, Cryptorchidism, Patellar apl... |
ORPHA:96061 |
19P13.13 Microdeletion Syndrome |
|
Sandal gap, Hypertelorism, Pectus excavatum, Long fingers, Brachycephaly, Deeply set eye, Macrogl... |
ORPHA:357001 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Abnormal curvature of the verteb... |
ORPHA:93360 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Flat occiput, External genital hypoplasia, Short neck, Tibial bowing, Deeply set eye, Clinodactyl... |
ORPHA:251028 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Facial palsy, Dilatated internal aud... |
OMIM:113650 |
Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:816 |
Cowden Syndrome |
|
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... |
ORPHA:201 |
Joubert Syndrome 10 |
|
Frontal bossing, Hirsutism, Postaxial polydactyly |
OMIM:300804 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Cryptorchidism, Kyphosis, Hypopigmente... |
ORPHA:2115 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Camptodactyly of finger, Congenital diaphragma... |
ORPHA:2311 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Sacral dimple, Hyperactivity, Hypospadias, Absent thumb, Hypertelorism, Cry... |
OMIM:617516 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Toe syndactyly, Short neck, Cryptorchidism, Dysphagia, Platyspondyly, Cone-shaped epiphyses of th... |
OMIM:618958 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Congenital diaphragmatic hern... |
ORPHA:1488 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Postaxial polydactyl... |
OMIM:615849 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Ck Syndrome |
|
Hyperactivity, Hyperlordosis, Aggressive behavior, Kyphosis, Irritability, Scoliosis, Abnormal di... |
OMIM:300831 |
Congenital Myopathy 19 |
|
Skeletal muscle atrophy, Facial hypotonia, Cryptorchidism, Congenital contracture, Scoliosis, Dys... |
OMIM:618578 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Thoracic hypoplasia, Dumbbell-shaped long bone, Micromelia, Hypoplasti... |
OMIM:151210 |
Humero-Radial Synostosis |
|
Meningocele, Iris coloboma, Chorioretinal coloboma |
ORPHA:3265 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurr... |
OMIM:264700 |
Orofaciodigital Syndrome Iii |
|
Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydactyly, Shor... |
OMIM:258850 |
Momo Syndrome |
|
Delayed eruption of teeth, Smooth philtrum, Large for gestational age, Thick lower lip vermilion,... |
ORPHA:2563 |
Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Synostosis of carpal bones, Posterolater... |
ORPHA:221120 |
Bresek Syndrome |
|
Alopecia, Cryptorchidism, Postaxial hand polydactyly, Hemivertebrae, Renal hypoplasia, Plagioceph... |
ORPHA:85284 |
Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Sparse scalp hair, Short metacarpal, Broad eyebrow, Thoracolumbar ky... |
OMIM:618853 |
Vitamin K Antagonist Embryofetopathy |
|
Short neck, Myelomeningocele, Hydrocephalus, Optic atrophy, Microtia, Intrauterine growth retarda... |
ORPHA:1914 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Osteoglosphonic Dysplasia |
|
Rhizomelia, Craniosynostosis, Hypertelorism, Cryptorchidism, Abnormal form of the vertebral bodie... |
ORPHA:2645 |
Bardet-Biedl Syndrome |
|
Medial flaring of the eyebrow, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplas... |
ORPHA:110 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Recurrent fractures, Ab... |
ORPHA:2050 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly |
ORPHA:1114 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Micrognathia, Protruding tongue, Gingival overgrowth, Cleft p... |
OMIM:259775 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,... |
OMIM:618823 |
Angelman Syndrome |
|
Hyperactivity, Flat occiput, Blue irides, Brachycephaly, Deeply set eye, Macroglossia, Scoliosis,... |
OMIM:105830 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Highly arched eyebrow, Short neck, Pectus excavatum, Supernumerary nipple, Hypertelorism, Brachyc... |
ORPHA:247262 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Enamel hypoplasia, Carious teeth |
OMIM:277440 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:103580 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Cryptorchidism, Fine hair |
ORPHA:1174 |
Trisomy 18P |
|
Facial palsy, Highly arched eyebrow, Bilateral cryptorchidism, Abnormal finger morphology, Hypote... |
ORPHA:1715 |
Muir-Torre Syndrome |
|
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... |
OMIM:158320 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Carney-Stratakis Syndrome |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Paraganglioma |
ORPHA:97286 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Frontal bossing, Arachnodactyly, Craniosynostosis, Hypertelorism, Pectus excavatum, Cryptorchidis... |
OMIM:182212 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Cryptorchidism, Increase... |
OMIM:616817 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp... |
OMIM:614856 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Tetraphocomelia, Hypoplasia of ... |
OMIM:215140 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Foot joint contracture, Scarring, Delayed eruption of primary teeth, Abnor... |
ORPHA:90321 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Clinodactyly of the 5th finger, Mitten d... |
OMIM:609638 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Umbilical hernia, Diastasis recti |
ORPHA:254534 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Cryptorchidism, Overlapping toe, Scoliosis, Hypertelorism |
ORPHA:466926 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Hypoplasia of t... |
ORPHA:2588 |
Temple Syndrome |
|
Frontal bossing, Precocious puberty, Cryptorchidism, Flexion contracture, Small hand, Short foot,... |
OMIM:616222 |
Renpenning Syndrome |
|
Mandibular prognathia, Skeletal muscle atrophy, Pectus excavatum, Abnormal thumb morphology, Abno... |
ORPHA:3242 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... |
OMIM:620103 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Abnormal thumb morphology, Finger syndactyly, Abnormality of the wrist, Proximal placement of thumb |
ORPHA:1825 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Short metacarpal, Hypergonadotropic hypogonadism, Coxa valga, Centrally ... |
OMIM:248800 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal ... |
ORPHA:2710 |
8p23.1 deletion syndrome |
|
Cryptorchidism, Hyperactivity, Congenital diaphragmatic hernia |
DECIPHER:39 |
Lig4 Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Low anterior hairline, Brachycephaly, Biparietal narrowing, ... |
ORPHA:99812 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Protruding ear, Branchial an... |
ORPHA:1131 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneou... |
OMIM:236500 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Single transverse palmar crease, Highly arched eyebrow, Hypertelorism, Pectus excavatum, Cryptorc... |
ORPHA:329224 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Lambotte Syndrome |
|
Preaxial foot polydactyly, Semilobar holoprosencephaly, Retrognathia, Intrauterine growth retarda... |
OMIM:245552 |
Pitt-Hopkins Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Short neck, Deeply set eye, Short palm,... |
OMIM:610954 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Single transverse palmar crease, Hypertelorism, Kyphosis, Synophrys, Scoliosis, Hirsutism |
OMIM:300861 |
Bladder Exstrophy |
|
Omphalocele, Umbilical hernia, Inguinal hernia, Bladder exstrophy |
ORPHA:93930 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Thoracic dysplasia, Narrow chest, Holoprosencephaly, Short palm, Neonatal dea... |
OMIM:269860 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Hyperactivity, Aggressive behavior, Cryptorchidism, Depression, Self-injurious behavior, Compulsi... |
ORPHA:485350 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Kyphosis, Hip dislocation, Talipes equinovarus, Scoliosis |
OMIM:616756 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Carious teeth, Widely spaced teeth, Yellow-brown discoloration of the ... |
OMIM:619229 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of... |
ORPHA:710 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Dry hair, Hypopigmentation of hair, Frontal bossing, Down-sloping shoulders, H... |
ORPHA:1974 |
Multiple Synostoses Syndrome 1 |
|
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin... |
OMIM:186500 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Silver-Russell Syndrome 3 |
|
Syndactyly, Frontal bossing, Unilateral cryptorchidism, Elbow contracture, Small hand, Melanocyti... |
OMIM:616489 |
Chromosome 18P Deletion Syndrome |
|
Barrel-shaped chest, Toe syndactyly, Short neck, Hypertelorism, Cryptorchidism, Coxa vara, Gonada... |
OMIM:146390 |
Schilbach-Rott Syndrome |
|
Micrognathia, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger cutaneous syn... |
OMIM:164220 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Non-midline cleft lip, Cleft palate, ... |
ORPHA:2549 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Fibroma, High palate |
OMIM:619750 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Hypospadias, Arachnodactyly, Short neck, Hypertelorism, Cryptorchidism, Ky... |
OMIM:248700 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hamartoma of tongue, Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly... |
OMIM:263520 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Single transverse palmar crease, Supernumerary tooth, Submucous cleft hard palate, Thick lower li... |
OMIM:617412 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Flexion contracture, Clitoral hypoplasia, Compulsive ... |
ORPHA:398069 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Albinism, Kyphosis, Platyspondyly, Hypopigmentation of the skin |
ORPHA:2786 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Dental crowding, Down-sloping shoulders, Coxa valga, Joint stiffness, Micrognathia, F... |
OMIM:248370 |
De Barsy Syndrome |
|
Decreased muscle mass, Congenital hip dislocation, Kyphoscoliosis, Hypertelorism, Pectus excavatu... |
ORPHA:2962 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Congenital diaphragmatic hernia, Aplasia/Hypoplasi... |
ORPHA:1647 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Thick eyebrow, Thoracolumbar kyphoscoliosis, Proximal placement of thumb, Short neck, Pectus exca... |
OMIM:212066 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Scapular winging, Short thorax, Dental malocclusion, Pectus carinatum,... |
OMIM:612921 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Enamel hypoplasia, Retrognathia |
OMIM:614576 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Encephalocele, Microme... |
ORPHA:1908 |
Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Micrognathia, Myelomeningocele, ... |
ORPHA:2437 |
X-Linked Intellectual Disability, Wilson Type |
|
Hydrocele testis, Abnormal position of hair whorl, Brachycephaly |
ORPHA:85290 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Squamous cell carcinoma of the skin, Myelodysplasia |
OMIM:620365 |
Congenital Myopathy 13 |
|
Skeletal muscle atrophy, Kyphoscoliosis, Fatty replacement of skeletal muscle, Cryptorchidism, Fl... |
OMIM:255995 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Hypospadias, Overlapping toe, Highly arched eyebrow, Hypertelorism, Pectus excavatum, C... |
OMIM:618316 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz... |
OMIM:618019 |
Branchiootic Syndrome 3 |
|
Branchial cyst, Sensorineural hearing impairment |
OMIM:608389 |
Oculocutaneous Albinism Type 1B |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79434 |
Aymé-Gripp Syndrome |
|
Sparse scalp hair, Proteinuria, Rocker bottom foot, Congenital diaphragmatic hernia, Tapered fing... |
ORPHA:1272 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Premature thelarche, Abnormal hand morphology, Osteolysis involving bones of the upper limbs, Bra... |
ORPHA:371428 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Osteopenia, Joint laxity, Thin upper lip vermilion, Delayed closure of... |
OMIM:607812 |
Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Hypoplasia of the maxilla, Genu valgum, Long thorax, Limb undergrowth |
OMIM:619142 |
Coffin-Siris Syndrome 1 |
|
Dry hair, Single transverse palmar crease, Congenital diaphragmatic hernia, Ectopic kidney, Brach... |
OMIM:135900 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Single transverse palmar crease, Short neck, Vertebral segmentation defect, R... |
OMIM:611209 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Supernumerary ... |
OMIM:619122 |
Coffin-Siris Syndrome 2 |
|
Sparse scalp hair, Thick eyebrow, Absent fifth fingernail, Sandal gap, Hyperactivity, Cryptorchid... |
OMIM:614607 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod... |
OMIM:608670 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Hypospadias, Cryptorchidism, Short toe, Coronal hypospadias, Ulnar deviation of f... |
ORPHA:921 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... |
ORPHA:1106 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Cloverleaf skull, Frontal bos... |
ORPHA:87 |
Masa Syndrome |
|
Kyphosis, Hyperlordosis, Talipes equinovarus, Adducted thumb |
OMIM:303350 |
Retinitis Pigmentosa 51 |
|
Polydactyly, Obesity |
OMIM:613464 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Hip dysplasia, Attention deficit hyperactivity disorder, Facial myokymia |
OMIM:620007 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, High, narrow pal... |
ORPHA:2554 |
Cat-Eye Syndrome |
|
Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology |
ORPHA:195 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Small scrotum, Toe syndactyly, Anterior pituitary hypoplasia, Hypertelorism, C... |
ORPHA:264200 |
Hydrolethalus |
|
Micromelia, Micrognathia, Postaxial hand polydactyly, Submucous cleft hard palate, Cleft palate, ... |
ORPHA:2189 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Small scrotum, Internally nucleated skeletal muscle fibers, Tibialis ant... |
ORPHA:98905 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig... |
ORPHA:235 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Brachycephaly, Abnormal form of the vertebr... |
ORPHA:175 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... |
OMIM:619938 |
Osteogenesis Imperfecta, Type Xix |
|
Dentinogenesis imperfecta |
OMIM:301014 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... |
ORPHA:3258 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Cleft palate, Abno... |
ORPHA:3429 |
White-Sutton Syndrome |
|
Overfriendliness, Hyperactivity, Facial hypotonia, Congenital diaphragmatic hernia, Short neck, H... |
OMIM:616364 |
Short Stature-Micrognathia Syndrome |
|
Small scrotum, Rhizomelia, Broad femoral neck, Bowing of the legs, Coxa valga, Cryptorchidism, Me... |
OMIM:617164 |
Atelosteogenesis, Type I |
|
Short neck, Short metatarsal, Tibial bowing, Vertebral hypoplasia, Short metacarpal, Radial bowin... |
OMIM:108720 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Vater/Vacterl Association |
|
Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ... |
OMIM:192350 |
Cerebrofaciothoracic Dysplasia |
|
Abnormal hair pattern, Short neck, Hypertelorism, Synophrys, Hemivertebrae, Brachycephaly, Low po... |
ORPHA:1394 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Inguinal hernia, Diastasis recti, Flexion contracture, Umbilical hernia, Camptodacty... |
ORPHA:254528 |
Trisomy 1Q |
|
Microretrognathia, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of... |
ORPHA:261344 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Micropenis, Hypopigmentation of ... |
ORPHA:398079 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, Short toe, Ob... |
OMIM:620072 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m... |
ORPHA:2107 |
Marbach-Rustad Progeroid Syndrome |
|
Femur fracture, Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Er... |
OMIM:619322 |
Meier-Gorlin Syndrome 7 |
|
2-4 finger syndactyly, Joint laxity, Anal stenosis, Sagittal craniosynostosis, Bowing of the legs... |
OMIM:617063 |
Anauxetic Dysplasia 1 |
|
Short neck, Thoracic kyphosis, Short palm, Barrel-shaped chest, Lumbar hyperlordosis, Rhizomelia,... |
OMIM:607095 |
Caudal Duplication |
|
Omphalocele |
ORPHA:1756 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Hypert... |
ORPHA:2062 |
Premature Aging Syndrome, Penttinen Type |
|
Hyperextensibility of the knee, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkerato... |
OMIM:601812 |
Congenital Myopathy 22A, Classic |
|
Thoracic scoliosis, Synophrys, Ragged-red muscle fibers, Deeply set eye, Generalized amyotrophy, ... |
OMIM:620351 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Brachycephaly |
OMIM:309545 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Posta... |
OMIM:615948 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu... |
OMIM:119800 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Craniofacial hyperostosis, Facial palsy, Abnormal muscle fiber morpholog... |
ORPHA:3068 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,... |
OMIM:164200 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux, Aganglionic megacolon |
OMIM:235750 |
8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, Frontal balding, Short neck, Pectus excavatum, Cryptorchidism, Precoci... |
ORPHA:96092 |
Smith-Kingsmore Syndrome |
|
Curly hair, Frontal bossing, Rhizomelia, Diastasis recti, Hypertelorism, Short proximal phalanx o... |
OMIM:616638 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Wide mouth, Enamel hypoplasia, Bifid uvula, Abnormality of the dentition |
OMIM:615802 |
Joubert Syndrome 7 |
|
Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Renal cyst, Genu valgum |
OMIM:611560 |
Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Preaxial hand polydactyly, Duplication of phalanx of hallux, Renal cyst, Stillbirth, ... |
OMIM:263630 |
Achondroplasia |
|
Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Bowing of the legs, S... |
ORPHA:15 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Carious teeth, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bo... |
OMIM:244460 |
Menkes Disease |
|
Alopecia, Brittle hair, Metaphyseal spurs, Metaphyseal widening, Brachycephaly, Sparse hair, Hypo... |
OMIM:309400 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Grange Syndrome |
|
Syndactyly, Short palm |
ORPHA:79094 |
Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Clinodactyly, Hypoplastic pubic ... |
OMIM:184250 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly |
OMIM:618392 |
Cousin Syndrome |
|
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... |
OMIM:260660 |
Yellow Nail Syndrome |
|
Neoplasm of the lung, Renal neoplasm, Neoplasm, Sarcoma |
ORPHA:662 |
Opitz-Kaveggia Syndrome |
|
Single transverse palmar crease, Micrognathia, Anteriorly placed anus, Prominent fingertip pads, ... |
OMIM:305450 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Arthropathy, Osteopenia, Limitation of joint mobility, Clubbing, Large fontanelles, Osteolytic de... |
OMIM:259100 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Hallux valgus, Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Con... |
OMIM:130060 |
Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,... |
OMIM:619636 |
Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hypospadias, Rocker bottom foot, Craniosynostosis, Coxa valga, Hypertelorism, Cryptorchidism, Pos... |
OMIM:301056 |
Bone Marrow Failure Syndrome 3 |
|
Micrognathia, Oral ulcer, Downturned corners of mouth, Hypodontia, Hernia, Microdontia, Enamel hy... |
OMIM:617052 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Delayed epiphyseal ossificatio... |
OMIM:613320 |
Noonan Syndrome 5 |
|
Curly hair, Short neck, Sparse eyebrow, Cryptorchidism, Hypertelorism, Fine hair, Multiple lentig... |
OMIM:611553 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hurthle cell thyroid adenoma, Preaxial hand polydactyly, Multiple lipomas, Thyroid carcinoma, Foo... |
ORPHA:210548 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Hypoplastic toenails, Aplasia of the pectoralis major muscle, Abnormal finge... |
ORPHA:3138 |
Gorlin-Chaudhry-Moss Syndrome |
|
Hypertelorism, Low anterior hairline, Brachycephaly, Coarse hair, Abnormal metacarpal morphology,... |
ORPHA:2095 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Hypoplastic ischia, Bowing of the legs, Micrognathia, Gingival overgrowt... |
ORPHA:313855 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Sacral dimple, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Brachycephaly,... |
OMIM:300968 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Xq28 (MECP2) duplication |
|
Functional abnormality of the bladder, Brachycephaly, Depression, Dysphagia, Abnormal repetitive ... |
DECIPHER:45 |
Primrose Syndrome |
|
Skeletal muscle atrophy, Bilateral cryptorchidism, Synophrys, Flexion contracture, Brachycephaly,... |
OMIM:259050 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... |
OMIM:166210 |
Arthrogryposis, Distal, Type 2A |
|
Short neck, Knee flexion contracture, Deeply set eye, Spina bifida occulta, Wrist flexion contrac... |
OMIM:193700 |
Tuberous Sclerosis 1 |
|
Chordoma, Astrocytoma, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma, Renal cell carcino... |
OMIM:191100 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Macrodontia of perm... |
OMIM:216550 |
Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t... |
ORPHA:2750 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Crumpled long bones, Metaphyseal widening, Osteoporosis, Increased susc... |
ORPHA:2788 |
Vacterl/Vater Association |
|
Finger syndactyly, Multicystic kidney dysplasia, Occipital encephalocele, Congenital diaphragmati... |
ORPHA:887 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele |
OMIM:601357 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... |
OMIM:265000 |
Intellectual Disability-Strabismus Syndrome |
|
Hyperactivity, Hypospadias, Rocker bottom foot, Decreased response to growth hormone stimulation ... |
ORPHA:363528 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Oligodontia, Hypodontia, Enamel hypoplasia |
OMIM:607626 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Delayed closure of the anterior fontanelle, Micrognathia, Frontal open ... |
OMIM:225410 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones, Recurrent fractures |
ORPHA:2773 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Brachycephaly, Palmoplantar hyperkeratosis, Sparse hair, Clinodactyly of the 5th finger, Highly a... |
OMIM:280000 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... |
OMIM:304120 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Clef... |
ORPHA:79113 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Arachnodactyly, Camptodactyly of finger, Kyphosis, Coarse hair, Joint contracture o... |
ORPHA:1883 |
Down Syndrome |
|
Sandal gap, Bilateral single transverse palmar creases, Short neck, Decreased fertility, Brachyce... |
ORPHA:870 |
Nablus Mask-Like Facial Syndrome |
|
Single transverse palmar crease, Short neck, Low anterior hairline, Sparse hair, Micropenis, Shor... |
OMIM:608156 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Proximal placement of thumb, Micrognathia, Wide anterior fontanel, Cleft palate, Ante... |
OMIM:217980 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Ulnar deviation of the 3rd finger, Pancreatic fibrosis, Proximal placement of thumb, Hyperteloris... |
OMIM:616263 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Frontal bossing, Camptodactyly of finger, Supernumerary nipple, Tapered finger, Hypertelorism, Br... |
ORPHA:1236 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Myofibrillar Myopathy 10 |
|
Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract... |
OMIM:619040 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Capitate-hamate fusion, Postaxial hand polydactyly, Genu ... |
OMIM:225500 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Micrognathia, Abn... |
ORPHA:3253 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou... |
ORPHA:2457 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho... |
OMIM:112350 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Lhermitte-Duclos Disease |
|
Fibroadenoma of the breast, Enlarged cerebellum, Ovarian neoplasm, Trichilemmoma, Macroglossia, N... |
ORPHA:65285 |
Thanatophoric Dysplasia |
|
Frontal bossing, Cloverleaf skull, Micromelia, Abnormal sacroiliac joint morphology, Kyphosis, Hi... |
ORPHA:2655 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Hemivertebrae, Brachycephaly, Femoral bowing, M... |
OMIM:201750 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cryptorchidism, Self-injurious behavior, Talipes equinovarus, Compulsive behaviors, Abnormal repe... |
OMIM:618917 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Hypertelorism, Brachycephaly, Abnormality of skin pigmentation, Dysphagia, Hypertrichosis |
OMIM:612379 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Macrotia |
OMIM:600776 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Abnormality of the ureter, Fu... |
ORPHA:2522 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Irritability, Myopathy |
OMIM:618237 |
Progressive Non-Fluent Aphasia |
|
Brain neoplasm |
ORPHA:100070 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o... |
OMIM:268305 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Hypoplastic ilia... |
OMIM:187600 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Midface retrusion, Short nail, Short neck, Hypertelorism, Ky... |
ORPHA:420794 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Thin upper lip vermilion, Dorsocervical fat pad, Micrognathia, Hypoplasia of teeth, Downturned co... |
ORPHA:391408 |
Xeroderma Pigmentosum, Complementation Group B |
|
Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Cutaneous melanoma |
OMIM:610651 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Frontal bossing, Arachnodactyly, Hypospadias, Sandal gap, Congenit... |
OMIM:617602 |
Hemifacial Atrophy, Progressive |
|
Kyphosis, Patchy alopecia, Deeply set eye, Poliosis |
OMIM:141300 |
Specific Granule Deficiency 2 |
|
Amelogenesis imperfecta, Tooth malposition, Conical tooth |
OMIM:617475 |
Neurofibromatosis-Noonan Syndrome |
|
Multiple cafe-au-lait spots, Cryptorchidism, Dysphagia, Hypertelorism |
ORPHA:638 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Pectus excav... |
ORPHA:98855 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:600081 |
Bruck Syndrome 1 |
|
Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow flexion contract... |
OMIM:259450 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Anterior pituitary hypoplasia, Renal cyst, Deeply set eye, Clinodact... |
ORPHA:464306 |
Typical Nemaline Myopathy |
|
Facial palsy, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis, Spinal rigidity, Hip disloca... |
ORPHA:171436 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos... |
OMIM:255200 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Small hand, Dysphagia, Short foot, Agitation, Scoliosis, Bruxism, Abnormal repetitive m... |
OMIM:617435 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Increased intervertebral space, Thoracolumbar kyphosis, Deeply set eye, N... |
ORPHA:508533 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Short humerus, Obtuse angle of mandible, Hypoplastic scapulae, Coxa va... |
OMIM:309350 |
Perlman Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Abnormal pancreas morphology, Deeply set eye, Dolichocephaly... |
ORPHA:2849 |
Fanconi Anemia, Complementation Group O |
|
External genital hypoplasia, Proximal placement of thumb, Absent thumb, Cryptorchidism, Short thu... |
OMIM:613390 |
Pontocerebellar Hypoplasia, Type 3 |
|
Proptosis, Brachycephaly |
OMIM:608027 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Proximal amyotrophy, Scoliosis |
OMIM:617404 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal fing... |
ORPHA:2980 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Brachycephaly, Femoral bowing, Abnormal shoulder morphology, Clinodactyly o... |
OMIM:274000 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Skeletal muscle atrophy, Foot joint contracture, Cryptorchidism, Irritability, Premature pubarche |
ORPHA:457205 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Short phalanx of finger, Broad metacarpals, Hypoplasti... |
ORPHA:56304 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernu... |
OMIM:311200 |
Frontometaphyseal Dysplasia 1 |
|
Skeletal muscle atrophy, Limited elbow movement, Absent frontal sinuses, Knee flexion contracture... |
OMIM:305620 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Obesity, Large hands, ... |
OMIM:157980 |
Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Brachydactyly, Highly arched eyebrow, Ectopic kidney, Pectus excavatum, Crypto... |
ORPHA:1519 |
Holzgreve Syndrome |
|
Abnormal morphology of ulna, Abnormal rib morphology, Webbed neck, Hand polydactyly, Abnormal met... |
ORPHA:2167 |
Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Highly arc... |
ORPHA:783 |
Schuurs-Hoeijmakers Syndrome |
|
Highly arched eyebrow, Hypertelorism, Aggressive behavior, Cryptorchidism, Synophrys, Low anterio... |
OMIM:615009 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... |
ORPHA:958 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Barrel-shaped chest, Hypoplastic scapulae, Micromelia, Bo... |
OMIM:200600 |
Zimmermann-Laband Syndrome 2 |
|
Thick eyebrow, Short neck, Kyphosis, Synophrys, Widow's peak, Macroglossia, Long eyelashes, Anony... |
OMIM:616455 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Shallow orbits, Spina bifida occulta, Hypoplastic cervical v... |
OMIM:150250 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Sensorineural hearing impairment, Protruding ear |
ORPHA:435938 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Sacral dimple, Midface retrusion, Frontal bossing, Short neck, Hypertelorism, Cryptor... |
OMIM:616894 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Short neck, Vertebral segmentation defect, Clinodactyly of the 5th finger, H... |
ORPHA:1507 |
Fetal Akinesia Deformation Sequence 2 |
|
Cryptorchidism, Flexion contracture, Hypertelorism |
OMIM:618388 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia,... |
ORPHA:1788 |
Werner Syndrome |
|
Renal neoplasm, Skeletal muscle atrophy, Acral lentiginous melanoma, Breast carcinoma, Squamous c... |
ORPHA:902 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Brachydactyly, Hypogonadotropic hypogonadism, Hypertelorism, ... |
ORPHA:1295 |
Dextrocardia |
|
Congenital hip dislocation, Hydrocephalus, Abnormal rib morphology, Webbed neck, Neuroblastoma |
ORPHA:1666 |
Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Small scrotum, Sparse scalp hair, Hypoplastic isch... |
ORPHA:85201 |
Noonan Syndrome 14 |
|
Curly hair, Scapular winging, Short neck, Pectus excavatum, Cryptorchidism, Kyphosis, Sparse eyeb... |
OMIM:619745 |
Distal Deletion 3P |
|
Sacral dimple, Short neck, Hypertelorism, Cryptorchidism, Postaxial hand polydactyly, Brachycepha... |
ORPHA:1620 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Brachycephaly, Renal cyst, Deeply set eye, Clinodactyly of the 5th finger, A... |
ORPHA:1606 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Temtamy Syndrome |
|
Long philtrum, Dental crowding, Hypoplasia of teeth, Micrognathia |
OMIM:218340 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Decreased muscle mass, Impulsivity, Ectopic kidney, Cr... |
ORPHA:3027 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Persistent open anterior fontanelle, Congenital hip dislocation, Joint hypermobility, Wide anteri... |
ORPHA:357058 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis |
ORPHA:101075 |
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome |
|
Thick eyebrow, Small scrotum, Cryptorchidism, Synophrys, Broad nail, Scoliosis, Hirsutism, Short ... |
ORPHA:1970 |
Idiopathic Congenital Hypothyroidism |
|
Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnor... |
ORPHA:95717 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, S... |
ORPHA:352447 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Decreased muscle mass, Micrognathia, Metaphyseal widening, Abnormal thorax morphology, Triangular... |
ORPHA:73230 |
Noonan Syndrome 6 |
|
Curly hair, Long eyebrows, Short neck, Pectus excavatum, Cryptorchidism, Hypertelorism, Low poste... |
OMIM:613224 |
Alg9-Cdg |
|
Short neck, Brachycephaly, Narrow greater sciatic notch, Shallow orbits, Rhizomelia, Hypoplasia o... |
ORPHA:79328 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Short metatarsa... |
ORPHA:1772 |
Cardiofacioneurodevelopmental Syndrome |
|
Hypertelorism, Cryptorchidism, Kyphosis, Hypotelorism, Aplasia/Hypoplasia of the nails, Camptodac... |
OMIM:619123 |
Squalene Synthase Deficiency |
|
Hypospadias, Bilateral cryptorchidism, Elbow flexion contracture, 2-3 toe syndactyly, Abnormality... |
OMIM:618156 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Hypertelorism, Kyphosis, Deeply set eye, Scoliosis, Abnormal metacarpal ... |
ORPHA:137834 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Decreased response to growth hormone st... |
OMIM:614732 |
Orofaciodigital Syndrome V |
|
Frontal bossing, Unilateral cryptorchidism, Sandal gap, Postaxial polydactyly, Hypertelorism, Pos... |
OMIM:174300 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical... |
ORPHA:98863 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Hypospadias, Trichiasis, Pectus excavatum, Kyphosis, Sparse eyebrow, Deeply set eye, Radial devia... |
OMIM:609944 |
Xq12-Q13.3 Duplication Syndrome |
|
Hypertelorism, Pectus excavatum, Cryptorchidism, Bulimia, 2-3 toe syndactyly, Cutaneous finger sy... |
ORPHA:314389 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubula... |
OMIM:253000 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Midface retrusion, Hypospadias, Kyphoscoliosis, Tapered finger, Coxa valga, Cryptorchidism, Kypho... |
OMIM:301040 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Urinary incontinence, Kyphosis, Infertility, Scoliosis, Limb muscle weakness, Lower limb muscle w... |
OMIM:614409 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly |
OMIM:619091 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Pyloric stenosis, Wide anterior fontanel, S... |
ORPHA:457279 |
Orofacial Cleft 15 |
|
Sparse eyelashes, Single transverse palmar crease, Hypertelorism, Sparse eyebrow, Cryptorchidism,... |
OMIM:616788 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Brachycephaly, Talipes equinovarus |
OMIM:619972 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Tapered finger, Hip dislocation, Obesity, Thin ribs, Delayed ossification... |
OMIM:618395 |
1Q41Q42 Microdeletion Syndrome |
|
Frontal bossing, Hypergonadotropic hypogonadism, Congenital diaphragmatic hernia, Cryptorchidism,... |
ORPHA:250999 |
Ring Chromosome 7 Syndrome |
|
Hypospadias, Single transverse palmar crease, Highly arched eyebrow, Hyperpigmented nevi, Small h... |
ORPHA:1449 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Cryptorchidism, Short neck, A... |
ORPHA:1865 |
Multiple Endocrine Neoplasia Type 4 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cell adenoma, Carcinoid ... |
ORPHA:276152 |
Osteogenesis Imperfecta, Type Xi |
|
Protrusio acetabuli, Kyphoscoliosis, Brachycephaly, Coxa vara, Vertebral wedging, Scoliosis, Bico... |
OMIM:610968 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Lateral clavicle hook, Horizontal ribs, Pancreatic cysts, Early ossificat... |
OMIM:208500 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Retrognathia, Arachnodactyly |
OMIM:619092 |
Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Thickened calvaria, Abnormality of the vertebral spinous proces... |
ORPHA:1299 |
Short Syndrome |
|
Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Abnormality of the dentition, ... |
ORPHA:3163 |
Bachmann-Bupp Syndrome |
|
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Hypertelorism, Aggressive behavior, Cryptorc... |
OMIM:619075 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Frontal bossing, Rhizomelia, Micromelia, Craniosynostosis, Elb... |
ORPHA:93329 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Abnormal acetabulum morphology, Long clavicles, Postaxial polydactyly, M... |
ORPHA:397715 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Large for ges... |
ORPHA:96334 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Homocystinuria, Brachycephaly, Methylmalonic aciduria |
OMIM:309541 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Congenital foot contractures, Distal amyotrophy, Scoliosis, Clinodactyly of the 5th finger |
ORPHA:3454 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Hydranencephaly, Spina bifida, Micrognathia, Myelomeningocele, Meni... |
ORPHA:1393 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Th... |
ORPHA:249 |
Ichthyosis, X-Linked |
|
Cryptorchidism, Palmar hyperlinearity, Palmoplantar keratoderma, Testicular neoplasm |
OMIM:308100 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Short neck, Hypertelorism, Cryptorchidism, Renal hypoplasia, Patellar hy... |
ORPHA:464288 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia, Hypospadias, Bilateral cryptorchidism, Agitation, Micropenis |
OMIM:618840 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Postaxial polydactyly, Hydrocephalus, Knee flexion c... |
OMIM:603387 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Flexion contracture, Diastasis recti |
OMIM:608149 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Flat occiput, Single transverse palmar crease, Aminoaciduria, Ulnar deviation of the hand or of f... |
OMIM:214100 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Congenital hip dislocation, Congenital diaphragmatic hernia, Neoplasm, Hep... |
ORPHA:373 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Microretrognathia, Broad long bones, Short tubular bones of the hand, Short ... |
OMIM:200610 |
Immunodeficiency 10 |
|
Amelogenesis imperfecta |
OMIM:612783 |
Fetal Akinesia Deformation Sequence |
|
Multiple joint contractures, Camptodactyly of finger, Hypertelorism, Cryptorchidism, Generalized ... |
ORPHA:994 |
3Mc Syndrome 2 |
|
Torticollis, Hypospadias, Diastasis recti, Limited elbow movement, Highly arched eyebrow, Hyperte... |
OMIM:265050 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Thin upper lip vermilion, Delayed cranial suture closure, Severe generalized ost... |
OMIM:210730 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology |
ORPHA:1782 |
Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:95706 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Postaxial polydactyly, Aggressive behavior, Cryptorchidism, Synophrys, Proximal re... |
OMIM:615824 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Micromelia, Short neck, Low anterior hairline, Coxa vara, Wrist flexion ... |
ORPHA:800 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:98793 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
Pfeiffer Syndrome Type 2 |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93259 |
Frontonasal Dysplasia 3 |
|
Absent eyebrow, Sparse eyelashes, Brachycephaly, Hypertelorism |
OMIM:613456 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Hypertelorism, Pectus excavatum, Long fingers, Short neck, Brachycephaly, Hypoplastic nipples |
OMIM:156610 |
Mend Syndrome |
|
Sacral dimple, Hyperactivity, Broad hallux, Overlapping toe, Hypertelorism, Aggressive behavior, ... |
ORPHA:401973 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Hypogonadotropic hypogonadism, Broad hallux, Overlapping toe, Highly arched eyebrow, Hyperteloris... |
ORPHA:293967 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... |
OMIM:602111 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Proximal placement of thumb, Short neck, Congenital diaphragmati... |
ORPHA:199 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac crest serrat... |
ORPHA:239 |
Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, Malar flatt... |
OMIM:269500 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Genu valgum, Small pituitary gland, Micropenis, Decreased tes... |
OMIM:614880 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Turricephaly, Single transverse palmar crease, Hypertelorism, Metatarsus adductus, Cryptorchidism... |
OMIM:214110 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... |
ORPHA:2636 |
Kleefstra Syndrome Due To A Point Mutation |
|
Tapered finger, Precocious puberty, Brachycephaly, Plagiocephaly, Self-injurious behavior, Vesico... |
ORPHA:261652 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:98754 |
Neurofibromatosis-Noonan Syndrome |
|
Pectus excavatum of inferior sternum, Pectus excavatum, Neurofibroma, Lisch nodules, Plexiform ne... |
OMIM:601321 |
1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ... |
ORPHA:438216 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Baraitser-Winter Syndrome 1 |
|
Highly arched eyebrow, Short neck, Hypertelorism, Cryptorchidism, Duplication of phalanx of hallu... |
OMIM:243310 |
Stevenson-Carey Syndrome |
|
Brachycephaly, Hip dysplasia, Scoliosis, Camptodactyly, Joint contracture of the hand |
OMIM:611961 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:177904 |
Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Premature thelarche, Bilateral cryptorchidism, Flexion contractu... |
OMIM:180849 |
Bainbridge-Ropers Syndrome |
|
Synophrys, Contracture of the proximal interphalangeal joint of the 4th finger, Deeply set eye, S... |
OMIM:615485 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Hyperlordosis, Pectus excavatum, Cryptorchidism, Short neck, Kyphosis,... |
ORPHA:2789 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Micrognathia, Short distal phalanx of the 5th finger, Clinodactyly of the 5th finger,... |
OMIM:180860 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hyperactivity, Broad hallux, Facial hypotonia, Postaxial polydactyly, Unilateral renal agenesis, ... |
ORPHA:457284 |
Birk-Aharoni Syndrome |
|
Cryptorchidism, Dolichocephaly, Micropenis, Midface retrusion, Thick eyebrow |
OMIM:620071 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Barrel-shaped chest, Abnormally ossified vertebrae... |
ORPHA:94068 |
Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head, Obesity |
OMIM:616629 |
Aica-Ribosiduria |
|
Fused labia minora, Brachycephaly, Clitoral hypertrophy |
ORPHA:250977 |
Fetal Hydantoin Syndrome |
|
Bifid scrotum, Hypoplastic fingernail, Hypertelorism, Cryptorchidism, Low posterior hairline, Coa... |
ORPHA:1912 |
Oculocutaneous Albinism Type 1A |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79431 |
Joubert Syndrome 14 |
|
Encephalocele, Posteriorly rotated ears, Hydrocephalus, Meningocele, Optic atrophy, Coloboma, Low... |
OMIM:614424 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Deep palmar crease, Short philtrum, Retrognathia, Smooth philtrum, Adducted thumb |
ORPHA:293725 |
Codas Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1458 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Frontal bossing, Toe syndactyly, Cryptorchidism, Vesicoureteral reflux, Dep... |
ORPHA:250989 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micromelia, Short neck, Hemivertebrae, Hypotelorism, Finger clinodactyly, Ab... |
ORPHA:99776 |
Eem Syndrome |
|
Carious teeth, Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Pectus excav... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Pectus excav... |
ORPHA:98853 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:177901 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Micrognathia, Thin ribs, Slender long bone, Arthrogryposis multiplex congenita, Retrognathia, Bra... |
OMIM:618265 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair, Cryptorchidism, Sacral dimple |
OMIM:273390 |
Tarp Syndrome |
|
Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Single transverse pal... |
ORPHA:2886 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Frontal bossing, Hyperactivity, Small scrotum, Cryptorchidism, Hypotelorism, Deeply set eye, Micr... |
OMIM:300486 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Lumbar hyperlordosis, Pectus excavatum, Cryptorchidism, Abnormal 5th finger morpholog... |
ORPHA:1439 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Hypospadias, Highly arched eyebrow, Cryptorchidism, Plagiocephaly, Short 5th finger, Scoliosis, A... |
ORPHA:500159 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Cryptorchidism, Proptosis, Scoliosis, Male hypogonadism, Joint contracture |
OMIM:615381 |
Anophthalmia Plus Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Iris coloboma, Spina bifida |
ORPHA:1104 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micromelia, Short neck, Epispadias, Hemivertebrae, Coxa vara, Abnormal form ... |
ORPHA:3107 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Facial palsy, Spinal rigidity, Ky... |
OMIM:615084 |
Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Hyperteloris... |
ORPHA:93260 |
Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Bowing of the long bones, Short neck, Hypertelorism, Kyphosis, Macrogl... |
ORPHA:61 |
Cohen Syndrome |
|
Low anterior hairline, Abnormality of skin pigmentation, Clinodactyly of the 5th finger, Finger s... |
ORPHA:193 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubula... |
OMIM:253010 |
Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Short metacarpal, Monkey wrench femoral neck, Single transverse palmar crea... |
OMIM:615777 |
Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Brachydactyly, Hypospadias, Abnormal hair pattern, Pectus excavatum, Cryptorch... |
ORPHA:1786 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Holoprosencephaly, Clinodactyly |
ORPHA:1445 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Flexion contracture, Brachycephaly, Hypotelorism, Deeply set eye, Hypoplasia of the t... |
OMIM:264090 |
Immunodeficiency 9 |
|
Stomatitis, Recurrent aphthous stomatitis, Amelogenesis imperfecta |
OMIM:612782 |
Isolated Hemihyperplasia |
|
Cryptorchidism, Scoliosis |
ORPHA:2128 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Frontal bossing, Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Short neck, Kyphoscoliosis,... |
OMIM:302960 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Cryptorchidism, Micropenis, Flexion contracture, Hypospadias |
OMIM:618815 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Postaxial polydactyly, Overweight, Joint contracture of the 5th finger, ... |
OMIM:619562 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Distichiasis |
ORPHA:2598 |
Autosomal Recessive Amelia |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Amelia involving the upper limbs, Acromelia o... |
ORPHA:1027 |
Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe |
OMIM:181510 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly, Obesity |
ORPHA:163681 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Kyphoscoliosis, Congenital diaphragmatic hernia, Cryptorchidism, Hip dysplasia, Ca... |
ORPHA:412035 |
Koolen-De Vries Syndrome |
|
Hypotelorism, Vesicoureteral reflux, Prominent fingertip pads, Iris hypopigmentation, Vertebral f... |
OMIM:610443 |
Kagami-Ogata Syndrome |
|
Diastasis recti, Large for gestational age, Coxa valga, Large placenta, Micrognathia, Bell-shaped... |
ORPHA:254519 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate... |
ORPHA:2753 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thoracolumbar scoliosis, Hyperlordosis, Hypertelorism, Kyphosis, Synophrys, Small hand, Genu valg... |
OMIM:618443 |
Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Clinodactyly, Short finger |
OMIM:300049 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra... |
OMIM:151050 |
Triploidy |
|
Omphalocele, Intrauterine growth retardation |
ORPHA:3376 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Sandal gap, Urinary incontinence, Hypertelorism, Small hand, Brachycephaly, Pineal cyst, Short foot |
OMIM:618885 |
Wieacker-Wolff Syndrome |
|
Facial palsy, Proximal placement of thumb, Short neck, Hyperlordosis, Kyphosis, Hip dislocation, ... |
OMIM:314580 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Cryptorchidism, Vertebral segmentation defect, Multiple renal cy... |
ORPHA:1166 |
Holoprosencephaly |
|
Encephalocele, Short neck, External ear malformation, Hydrocephalus, Optic atrophy, Anosmia, Spin... |
ORPHA:2162 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Skeletal muscle atrophy, Trichiasis, Kyphoscoliosis, Brachycephaly, Nail dysplasi... |
OMIM:601701 |
Rin2 Syndrome |
|
Sparse scalp hair, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cryptorchidis... |
ORPHA:217335 |
Kinsship Syndrome |
|
Osteopenia, Mandibular prognathia, Single transverse palmar crease, Micrognathia, Downturned corn... |
OMIM:619297 |
Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Obesity |
OMIM:615989 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Increased nuchal translucency, Coloboma, Branchial anomaly, Abnormal autonomic nervous system phy... |
ORPHA:453499 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Unilateral renal agenesis, Cryptorchidism, Deeply set eye, Attention deficit hyperactivity disord... |
OMIM:618504 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum |
OMIM:207950 |
Hereditary Mixed Polyposis Syndrome |
|
Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... |
ORPHA:157794 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o... |
ORPHA:1858 |
Fg Syndrome Type 1 |
|
Finger syndactyly, Limited elbow extension and supination, Broad toe, Hypospadias, Single transve... |
ORPHA:93932 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo... |
ORPHA:166119 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Premature graying of hair, Cryptorchidism, Alopecia of scalp, Excessive wrinkling of palmar skin |
OMIM:210700 |
C Syndrome |
|
Short metacarpal, Toe syndactyly, Micromelia, Trigonocephaly, Cryptorchidism, Postaxial hand poly... |
OMIM:211750 |
3Mc Syndrome |
|
Diastasis recti, Highly arched eyebrow, Hyperlordosis, Bilateral cryptorchidism, Supernumerary ni... |
ORPHA:293843 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Short neck, Low anterior hairline, Brachycephaly, Deeply set eye, Prominent fingertip pads, Self-... |
OMIM:619950 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Sternocleidomastoid amyotrophy, Small hand, Abnormal rib morphology, Retrognathia, Short foot, We... |
ORPHA:488434 |
Distal Duplication 17Q |
|
Hallux valgus, Frontal bossing, Hyperactivity, Rhizomelia, Overlapping toe, Arachnodactyly, Hyper... |
ORPHA:3379 |
Kapur-Toriello Syndrome |
|
Single transverse palmar crease, Camptodactyly of finger, Short neck, Cryptorchidism, Short thumb... |
OMIM:244300 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Anterior ... |
OMIM:211350 |
Scarf Syndrome |
|
Umbilical hernia, Inguinal hernia, Enamel hypoplasia, Long philtrum |
OMIM:312830 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly... |
ORPHA:2008 |
Amish Lethal Microcephaly |
|
Cleft soft palate, Micrognathia, Limitation of joint mobility, Osteoporosis, Decreased skull ossi... |
ORPHA:99742 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hypospadias, Genu valgum |
ORPHA:1381 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Attention deficit hyperactivity disorder, Congenital diaphragmatic hernia |
ORPHA:261102 |
Baralle-Macken Syndrome |
|
Urinary incontinence, Tapered finger, Kyphosis, Cafe-au-lait spot, Hirsutism |
OMIM:619255 |
Restrictive Dermopathy 1 |
|
Natal tooth, Limb joint contracture, Rocker bottom foot, Micrognathia, Wide anterior fontanel, An... |
OMIM:275210 |
3-Methylglutaconic Aciduria, Type Iv |
|
Cryptorchidism, 3-Methylglutaric aciduria, Single transverse palmar crease |
OMIM:250951 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finger, Hyperlordosis, Cryptorchidi... |
ORPHA:568 |
Blepharo-Cheilo-Odontic Syndrome |
|
Carious teeth, Finger syndactyly, Anal atresia, Bilateral cleft lip and palate |
ORPHA:1997 |
Alpha-Mannosidosis, Infantile Form |
|
Facial hypotonia, Highly arched eyebrow, Short neck, Pectus excavatum, Hypertelorism, Craniosynos... |
ORPHA:309282 |
Johnson Neuroectodermal Syndrome |
|
Carious teeth, Preaxial hand polydactyly, Cleft palate, Hand polydactyly, Everted lower lip vermi... |
ORPHA:2316 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking ... |
OMIM:230650 |
3C Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Hypoplastic fingernail, Hypospadias, Frontal bossing, Sho... |
ORPHA:7 |
Au-Kline Syndrome |
|
Vertebral segmentation defect, Shallow orbits, Vesicoureteral reflux, Clinodactyly of the 5th fin... |
OMIM:616580 |
Parietal Foramina 1 |
|
Wormian bones, Encephalocele, Cleft palate |
OMIM:168500 |
Ivic Syndrome |
|
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... |
ORPHA:2307 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Neurogenic bladder, Decreased muscle mass, Short neck, Pectus excavatum, Crypto... |
OMIM:130720 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Absent... |
ORPHA:1234 |
Mend Syndrome |
|
Sacral dimple, Hyperactivity, Broad hallux, Overlapping toe, Long fingers, Cryptorchidism, Kyphos... |
OMIM:300960 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
Craniosynostosis With Fibular Aplasia |
|
Cryptorchidism, Single transverse palmar crease, Craniosynostosis, Fibular aplasia |
OMIM:218550 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microdontia, Widely spaced teeth, Cleft palate, Hypoplasia of teeth |
ORPHA:2728 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Visceral angiomatosis, Neoplasm, Hand polydactyly, Foot polyda... |
ORPHA:60040 |
Xfe Progeroid Syndrome |
|
Premature loss of teeth, Absence of subcutaneous fat, Enamel hypoplasia, Corneal scarring |
OMIM:610965 |
Hypophosphatasia |
|
Bowing of the long bones, Abnormal metaphysis morphology, Abnormal rib morphology, Narrow chest |
ORPHA:436 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Finger syndactyly, Congenital hip dislocation, Hypospadias, Toe syndactyly, Supern... |
ORPHA:217346 |
Fontaine Progeroid Syndrome |
|
Small scrotum, Hypoplasia of the abdominal wall musculature, Synophrys, Low anterior hairline, Br... |
OMIM:612289 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Sacral dimple, Brachycephaly, Lower limb hypertonia, Scoliosis, Brachydactyly |
OMIM:619995 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Recurrent fractures, ... |
OMIM:231070 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Kyphosis, Flexion contrac... |
OMIM:254090 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Ureteral duplication, Hypopigmentation of hair, Arachnodactyly, Hypospadias, Ab... |
ORPHA:96169 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Enuresis nocturna, Posterior ... |
OMIM:615873 |
Pallister-Hall Syndrome |
|
Syndactyly, Natal tooth, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, ... |
OMIM:146510 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Metaphyseal dysplasia, Frontal bossing, Hypospadias, Decreased response to growth hormone stimula... |
OMIM:618336 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Hyperconvex fingernails, Short me... |
ORPHA:192 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Syndactyly, Hyperactivity, Hypermelanotic macule, Pectus excavatum, Cryptorchidism, Broad palm, H... |
OMIM:618505 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Pectus excavatum, Bilateral cryptorchidism, Kyphosis, Synophrys, Flexion contrac... |
ORPHA:3042 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Gingival overgrowth, Narrow palate, Conical incisor, Oligodontia, Join... |
OMIM:235510 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Frontal bossing, Hypoplasia of penis, Sandal gap, Supernumerary nipple, Hypertelorism, Pectus exc... |
ORPHA:1812 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Elevated ... |
ORPHA:90797 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Rhizomelia, Femoral bowing, Wormian bones, Short 4th metacarpal, Broad thumb, S... |
OMIM:619638 |
Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Sp... |
OMIM:252600 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Flat occiput, Low anterior hairline, Brachycephaly, Deeply set eye, Horizontal eyebrow, Vesicoure... |
OMIM:618797 |
Meier-Gorlin Syndrome 1 |
|
Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flat glenoid fossa, Flexion contr... |
OMIM:224690 |
Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Frontal bossing, Supernumerary nipple, Cryptorchidism, Apl... |
ORPHA:3255 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Frontal bossing, Supernumerary nipple, Hypertelorism, Impulsivity, Cryptorchidism, Synophrys, Low... |
OMIM:618929 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, T... |
ORPHA:59315 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
Native American Myopathy |
|
Joint laxity, Micrognathia, Cleft palate, Downturned corners of mouth, Congenital contracture, Hi... |
ORPHA:168572 |
Distal Triplication 15Q |
|
Arachnodactyly, Abnormal external genitalia, Craniosynostosis, Hypertelorism, Kyphosis, Flexion c... |
ORPHA:314588 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, ... |
OMIM:303600 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Muscle fiber atrophy, Flexion contracture, Brachycephaly |
OMIM:620240 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ... |
ORPHA:1071 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Micrognathia, High, narrow palate, Supernumerary tooth, Small hand, Malar flat... |
ORPHA:1787 |
Cole-Carpenter Syndrome 1 |
|
Microdontia, Dentinogenesis imperfecta, Micrognathia |
OMIM:112240 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Joint dislocation, Osteopenia, Genu recurvatum, Single transverse palmar crease, Micrognathia, Fl... |
OMIM:130070 |
Haddad Syndrome |
|
Neuroblastoma, Aganglionic megacolon, Ganglioneuroma |
ORPHA:99803 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Hyperactivity, Frontal bossing, Hypospadias, Diastasis recti, Hypertelorism, Cryptorc... |
ORPHA:457485 |
Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
|
Cryptorchidism, Clinodactyly, Scoliosis, Limb hypertonia |
OMIM:620316 |
Ogden Syndrome |
|
Frontal bossing, Torticollis, Broad hallux, Cryptorchidism, Fine hair, Proptosis, Scoliosis, Apla... |
ORPHA:276432 |
Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondy... |
OMIM:113500 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility, Goiter |
OMIM:617577 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Micrognathia, Protruding tongue, Bilateral camptodactyly, Elbow flexi... |
OMIM:619777 |
Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Long palm, Single transverse palmar crease, Ovoid vertebral bodies, H... |
OMIM:244450 |
Lymphedema-Distichiasis Syndrome |
|
Fibrosarcoma, Cleft palate |
ORPHA:33001 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Frontal bossing, Arachnodactyly, Kyphosis, Shoulder dislocation, Scoliosis, Adducted thumb |
ORPHA:2181 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Sacral dimple, Alopecia, Tapered toe, Sparse eyelashes, Sparse scalp hair, Tapere... |
ORPHA:544488 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Coxa vara, Hypoplasia... |
OMIM:313400 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Proximal placement of thumb, Micrognathia, Preaxial hand polydactyly, Esophageal atresia, Deep ph... |
OMIM:610536 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Clinodactyly of the 5th finger, Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate |
OMIM:620183 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Single transverse palmar crease, Metaphyseal widening, Flexion contr... |
ORPHA:536471 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal femur morphology, Upper limb asymmetry,... |
ORPHA:2063 |
Wagr Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus, Scoliosis |
ORPHA:893 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... |
OMIM:612447 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Single transverse palmar crease, Ovotestis, Cryptorchidism, ... |
ORPHA:199310 |
Hartsfield Syndrome |
|
Syndactyly, Craniosynostosis, Alobar holoprosencephaly, Cleft palate, Lobar holoprosencephaly, Ec... |
OMIM:615465 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Frontal bossing, Sacral dimple, Hypertelorism, Pectus excavatum, Kyphosis, Enlarged kidney |
OMIM:618272 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow chest, Short p... |
OMIM:250220 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Small scrotum, Skeletal muscle atrophy, Camptodactyly of ... |
ORPHA:2990 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... |
OMIM:149730 |
Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Wide cranial sutures, Dental malocclusion, Clinodactyly of the 5th fing... |
OMIM:619149 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Absent eyebrow, Flat occiput, Arachnodactyly, Brachycephaly, Thin eyebrow, Clitoral hypertrophy |
ORPHA:2707 |
Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
Thanatophoric Dysplasia Type 1 |
|
Frontal bossing, Bowing of the long bones, Short femur, Cloverleaf skull, Micromelia, Hypoplastic... |
ORPHA:1860 |
Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Hypogonadotropic hypogonadism, Trigonocephaly, Tapered finger, Hypertelorism... |
OMIM:617159 |
Postaxial Acrofacial Dysostosis |
|
Finger syndactyly, Hypoplasia of the ulna, Camptodactyly of finger, Micrognathia, Hypoplasia of t... |
ORPHA:246 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Wide cranial sutures, Dental crowding, Limited elbow movement, Delayed closure... |
OMIM:614008 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... |
OMIM:611134 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Bifid scrotum, Turricephaly, Cloverleaf skull, Craniosynostosis, Hypertelorism, Palmoplantar cuti... |
ORPHA:1555 |
Roberts-Sc Phocomelia Syndrome |
|
Short neck, Brachycephaly, Tetraphocomelia, Knee flexion contracture, Shallow orbits, Phocomelia,... |
OMIM:268300 |
Cerebrooculonasal Syndrome |
|
Frontal bossing, Sparse eyelashes, Postaxial polydactyly, Hypertelorism, Sparse eyebrow, Probosci... |
OMIM:605627 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Prominent metopic ridge, Tented upper lip vermilion, Micrognathia, Deep philtrum, High palate, Po... |
ORPHA:314655 |
Joubert Syndrome 33 |
|
Syndactyly |
OMIM:617767 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Ethmoidal encephalocele |
ORPHA:280195 |
Noonan Syndrome 4 |
|
Pectus excavatum of inferior sternum, Ureteral duplication, Curly hair, Short neck, Pectus excava... |
OMIM:610733 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Bowing of the long bones, Congenital hip dislocation, Large fontanelles, High palate,... |
OMIM:612940 |
Buratti-Harel Syndrome |
|
Broad hallux, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Broad thumb... |
OMIM:619314 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Large for gestational age, Centrally nucleated skeletal ... |
ORPHA:169189 |
Mucopolysaccharidosis, Type Vii |
|
Short neck, Flexion contracture, Coarse hair, Narrow greater sciatic notch, Anterior beaking of l... |
OMIM:253220 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Highly arched eyebrow, Hypertelorism, Cryptorchidism, Ulnar bowing, Short... |
OMIM:619135 |
Osteogenesis Imperfecta, Type Xx |
|
Highly arched eyebrow, Kyphoscoliosis, Brachycephaly, Plagiocephaly, Sparse hair, Vertebral compr... |
OMIM:618644 |
Mucopolysaccharidosis Type 4 |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Grayish enamel, W... |
ORPHA:582 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Omphalocele |
OMIM:601927 |
Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Torticollis, Micrognathia, Increased variability in muscle fiber diameter, Fe... |
OMIM:617022 |
Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... |
ORPHA:1183 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c... |
OMIM:619503 |
Celiac Disease, Susceptibility To, 1 |
|
Stomatitis, Enamel hypoplasia, Recurrent aphthous stomatitis |
OMIM:212750 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Lower limb hypertonia, Upper limb hypertonia, Hypertrichosis |
OMIM:614898 |
Marshall Syndrome |
|
Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower lip vermilion, Pierre-Robin s... |
OMIM:154780 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Pectus excavatum, Hypercalciuria, Renal c... |
OMIM:615398 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Overlapping toe, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Deeply set eye, Hip... |
OMIM:618494 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Kyphosis, E... |
OMIM:618138 |
Marshall Syndrome |
|
Frontal bossing, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Brachycephaly, Genu valgum, Pro... |
ORPHA:560 |
Bruck Syndrome |
|
Bowing of the long bones, Recurrent fractures, Joint stiffness, Osteoporosis, Talipes equinovarus... |
ORPHA:2771 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Short neck, Synophrys, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular ... |
OMIM:610442 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Brittle hair, Bilateral cryptorchidism, Synophrys, Distal widening of metacar... |
OMIM:602535 |
Acrofrontofacionasal Dysostosis 1 |
|
Short metacarpal, Long eyebrows, Hypertelorism, Pectus excavatum, Widow's peak, Brachycephaly, Lo... |
OMIM:201180 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Brachycephaly, Patellar hypoplasia, Spina bifida occulta, Abnormal verteb... |
OMIM:218600 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Sparse scalp hair, Hypospadias, Single transverse palmar crease, Overlapping t... |
ORPHA:464738 |
Myopathy, Centronuclear, X-Linked |
|
Arachnodactyly, Facial palsy, Cryptorchidism, Flexion contracture, Slender toe, Dolichocephaly, D... |
OMIM:310400 |
Chromosome 16P13.3 Duplication Syndrome |
|
Proximal placement of thumb, Short neck, Synophrys, Low anterior hairline, Deeply set eye, Tapere... |
OMIM:613458 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Micrognathia, ... |
OMIM:300990 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
Prader-Willi Syndrome Due To Translocation |
|
Flat occiput, External genital hypoplasia, Decreased response to growth hormone stimulation test,... |
ORPHA:177907 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph... |
ORPHA:1018 |
Neuroblastoma, Susceptibility To, 1 |
|
Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma |
OMIM:256700 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Abnormality of the musculature of the lower limbs, Urinary incontinence, Hypertelorism, Kyphosis,... |
ORPHA:464282 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Mi... |
OMIM:200980 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadias, Single transver... |
OMIM:300998 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polyd... |
OMIM:619879 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Abnormality of the urethra, Cryptorchidism, Male pseudohermaphrodi... |
ORPHA:752 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Femoral retroversion, Micromelia, Hypertelorism, Kyphosis, Macroglossia, Sc... |
ORPHA:79107 |
Osteogenic Sarcoma |
|
Retinoblastoma, Osteosarcoma |
OMIM:259500 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Long palm, Arachnodactyly, Missing ribs, Abnormal rib morphology, Clinodactyly of the 5th finger |
ORPHA:2759 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia... |
ORPHA:989 |
Xeroderma Pigmentosum, Complementation Group A |
|
Melanoma, Squamous cell carcinoma of the skin |
OMIM:278700 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Enamel hypoplasia |
OMIM:243150 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Supernumerary nipple, Cryptorchidism, Deeply set eye, Thin eyebrow, Scoliosis |
OMIM:617635 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia... |
OMIM:192445 |
Donnai-Barrow Syndrome |
|
Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia |
OMIM:222448 |
Cerebellofaciodental Syndrome |
|
Single transverse palmar crease, Tapered finger, Short neck, Cryptorchidism, Sparse eyebrow, Aggr... |
OMIM:616202 |
Noonan Syndrome 8 |
|
Curly hair, Short neck, Hypertelorism, Cryptorchidism, Palmoplantar cutis laxa, Left ventricular ... |
OMIM:615355 |
Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Premature graying of hair, Short palm, Sparse hair, Absent eyebrow, A... |
OMIM:268400 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Frontal bossing, Highly arched eyebrow, Dolichocephaly, Cryptorchidism, Kyphosis, Increased femor... |
OMIM:619005 |
Waardenburg Syndrome Type 1 |
|
Aganglionic megacolon, Spina bifida, Congenital sensorineural hearing impairment, Meningocele, He... |
ORPHA:894 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Hydroureter, Pectus excavatum, Cryptorchidism, Aplasia of the abdomin... |
OMIM:100100 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Broad skull, Broad palm, Spinal canal stenosis, Brachycephaly, Scoliosis, S... |
OMIM:277600 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:1834 |
Neu-Laxova Syndrome |
|
Osteopenia, Abnormality of the philtrum, Osteomalacia, Micromelia, Micrognathia, Trismus, Submuco... |
ORPHA:2671 |
Oligomeganephronia |
|
Branchial cyst, Optic disc coloboma, Hearing impairment |
ORPHA:2260 |
Frontofacionasal Dysplasia |
|
Hypertelorism, Brushfield spots, Brachycephaly, Absent inner eyelashes, Midface retrusion, Aplasi... |
ORPHA:1791 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula, Absent thumb |
OMIM:619239 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absent pubic hair, Hypoplasia ... |
OMIM:614841 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Osteopenia, Microretrognathia, Congenital hip dislocation, Scapular wi... |
OMIM:278250 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Absent eyebrow, Short metacarpal, Alopecia, Frontal bossing, Craniosynostosis, Abs... |
ORPHA:166035 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Abnormal dental enamel morphology |
ORPHA:257 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endplates, Shoulder dislocati... |
OMIM:143095 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Short neck, Ectopic kidney, Hypoplastic toenails, Dermatoglyphic ridges abnormal, Hyperconvex fin... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Short neck, Ectopic kidney, Hypoplastic toenails, Dermatoglyphic ridges abnormal, Hyperconvex fin... |
ORPHA:99228 |
Monosomy X |
|
Short neck, Ectopic kidney, Hypoplastic toenails, Dermatoglyphic ridges abnormal, Hyperconvex fin... |
ORPHA:99226 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Femoral bow... |
OMIM:609220 |
Turner Syndrome |
|
Short neck, Ectopic kidney, Hypoplastic toenails, Dermatoglyphic ridges abnormal, Hyperconvex fin... |
ORPHA:881 |
Trichothiodystrophy |
|
Multiple joint contractures, Hypoplasia of mandible relative to maxilla, Carious teeth, High, nar... |
ORPHA:33364 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Decreased muscle mass, Hypospadias, Sandal gap, Precociou... |
ORPHA:813 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal rib morphology, Abnormality of the humeroulnar joint, Obesity |
ORPHA:2234 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micrognathia, Narrow palate, Abnormal hip bone morpho... |
ORPHA:1323 |
Noonan Syndrome 9 |
|
Curly hair, Hydroureter, Short neck, Sparse eyebrow, Cryptorchidism, Hypertelorism |
OMIM:616559 |
6P22 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Hydrocephalus |
ORPHA:251046 |
Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ... |
OMIM:150400 |
Rere-Related Neurodevelopmental Syndrome |
|
Frontal bossing, Hypospadias, Cryptorchidism, Self-injurious behavior, Hip dysplasia, Scoliosis, ... |
ORPHA:494344 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Single transverse palmar crease, Short neck, Synophrys, Brachycephaly, Hypotelorism, Deeply set e... |
OMIM:612474 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Abnormality of the hand, Tapered finger, Pectus excavatum, Unilateral radia... |
ORPHA:476126 |
Atypical Rett Syndrome |
|
Restrictive behavior, Kyphosis, Tongue thrusting, Small hand, Short foot, Agitation, Inappropriat... |
ORPHA:3095 |
Dystonia-Deafness Syndrome 1 |
|
Cleft palate, Hypoplastic scapulae, Femoral retroversion, Cleft upper lip |
OMIM:607371 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Syndactyly, Bilateral cleft palate, Prominent metopic ridge, Overlapping toe, ... |
OMIM:605039 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, In... |
OMIM:110100 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Anorexia, Abnormal tibia morphology, Abnormal femur morphology, Cortical... |
ORPHA:1328 |
Hallermann-Streiff Syndrome |
|
Frontal bossing, Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptor... |
ORPHA:2108 |
Tatton-Brown-Rahman Syndrome |
|
Kyphoscoliosis, Hypertelorism, Aggressive behavior, Cryptorchidism, Short toe, Widely spaced toes... |
ORPHA:404443 |
Thanatophoric Dysplasia Type 2 |
|
Frontal bossing, Cloverleaf skull, Micromelia, Kyphosis, Platyspondyly, Proptosis, Abnormal metap... |
ORPHA:93274 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Dentinogenesis imperfecta, Long philtrum |
OMIM:184260 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Short neck, Biparietal narrowing, Sparse hair, Dystrophic fingernails, Abnormal mor... |
ORPHA:1340 |
Hunter-Macdonald Syndrome |
|
Epiphyseal dysplasia, Hypospadias, Metatarsus adductus, 2-3 toe syndactyly, Brachycephaly, Pseudo... |
OMIM:611962 |
Intellectual Developmental Disorder, X-Linked 93 |
|
Cryptorchidism, Frontal bossing |
OMIM:300659 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Flat occiput, Congenital diaphragmatic hernia, Short neck, Pectus excavatum, Crypt... |
OMIM:614294 |
Elsahy-Waters Syndrome |
|
Bifid scrotum, Thick eyebrow, Hypospadias, Hypertelorism, Pectus excavatum, Bilateral cryptorchid... |
OMIM:211380 |
Desmosterolosis |
|
Increased bone mineral density, Intestinal malrotation, Micromelia, Micrognathia, Metatarsus addu... |
ORPHA:35107 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... |
ORPHA:93333 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Broad proximal phalanges of the hand, Abnormal hair morphology, Short foot, Hype... |
OMIM:607597 |
Dyskeratosis Congenita, Digenic |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
OMIM:620040 |
Gm1 Gangliosidosis |
|
Frontal bossing, Camptodactyly of finger, Hyperlordosis, Kyphosis, Aplasia/Hypoplasia of the abdo... |
ORPHA:354 |
Cranioectodermal Dysplasia 3 |
|
Frontal bossing, Rhizomelia, Sandal gap, Postaxial polydactyly, Short nail, 2-4 toe syndactyly, S... |
OMIM:614099 |
Hypomandibular Faciocranial Dysostosis |
|
Craniosynostosis, Brachycephaly, Proptosis, Trigonocephaly, Abnormal morphology of female interna... |
ORPHA:1790 |
Occipital Horn Syndrome |
|
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormal... |
ORPHA:198 |
Brittle Cornea Syndrome 1 |
|
Atypical scarring of skin, Dentinogenesis imperfecta |
OMIM:229200 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... |
OMIM:619975 |
Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly, Ungual fibroma |
ORPHA:1433 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Broad skull, Short metatarsal, Broad palm, Elbow flexion ... |
OMIM:608328 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Humeroradial synostosis, Rib fusio... |
OMIM:134780 |
White-Sutton Syndrome |
|
Hyperactivity, Facial hypotonia, Congenital diaphragmatic hernia, Hypertelorism, Short neck, Aggr... |
ORPHA:468678 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Enamel hypoplasia |
OMIM:240300 |
Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Frontal bossing, Turricephaly, Flat occiput, Broad hallux, Sagittal craniosynostos... |
OMIM:614188 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Conical incisor, Thin v... |
ORPHA:73223 |
Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... |
OMIM:169550 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Hypospadias, Supernumerary nipple, Aggressive behavior, Cryptorchidism, Contracture of the proxim... |
OMIM:618109 |
Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, Webbed neck,... |
OMIM:620076 |
Aica-Ribosuria Due To Atic Deficiency |
|
Frontal bossing, Fused labia minora, Brachycephaly, Elevated urinary 5-amino-4-imidazolecarboxami... |
OMIM:608688 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Micrognathia, Short metatarsal, High palate, Widely spaced teeth, Clinodactyly of the... |
OMIM:266920 |
Shashi-Pena Syndrome |
|
Short metacarpal, Highly arched eyebrow, Unilateral renal agenesis, Hypertelorism, Kyphosis, Syno... |
OMIM:617190 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Flat occiput, Short neck, Hypertelorism, Cryptorchidism, Postaxial hand polydactyly, Pancreatic l... |
OMIM:235255 |
Mucolipidosis Iii Gamma |
|
Abnormality of the hand, Short neck, Flat capital femoral epiphysis, Hyperlordosis, Kyphosis, Gen... |
OMIM:252605 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli... |
OMIM:300373 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Clinodactyly, Primary amenorrhea, Ectrodactyly, Mi... |
OMIM:147950 |
16Q24.3 Microdeletion Syndrome |
|
Frontal bossing, Proximal placement of thumb, Highly arched eyebrow, Abnormal hair pattern, Crypt... |
ORPHA:261250 |
N Syndrome |
|
Cryptorchidism, Hypospadias |
OMIM:310465 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Hypertelorism, Cryptorchidism, Genu valgum, Low posterior hairline, Shawl scrotum, Cubitus valgus |
ORPHA:1778 |
Hurler Syndrome |
|
Short neck, Metaphyseal widening, Flexion contracture, Hypoplasia of the femoral head, Hypertelor... |
OMIM:607014 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response to growth h... |
ORPHA:96179 |
Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, Mi... |
OMIM:613848 |
Takenouchi-Kosaki Syndrome |
|
Midface retrusion, Hypospadias, Overlapping toe, Proximal placement of thumb, Tapered finger, Hig... |
OMIM:616737 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Multiple prenatal fractures, Decreased calvarial ossification, Stillbirth, Bowing of limbs due to... |
OMIM:259410 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Micromelia, Micrognathia, Hypoplasia of the radius, Abnormality of ... |
ORPHA:3015 |
Sotos Syndrome |
|
Frontal bossing, Hypertelorism, Sparse eyebrow, Cryptorchidism, Aggressive behavior, Long metacar... |
OMIM:117550 |
Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Abnormal dental enamel morphology, Congenital diaphragmatic hernia,... |
ORPHA:2092 |
Trisomy 18 |
|
Microretrognathia, Camptodactyly of finger, Spina bifida, Congenital diaphragmatic hernia, Postax... |
ORPHA:3380 |
Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Hypospadias, Proximal placement of thumb, Tapered finger, Short neck, Crypt... |
ORPHA:251071 |
Recombinant 8 Syndrome |
|
Small scrotum, Camptodactyly of finger, Hypertelorism, Pectus excavatum, Cryptorchidism, Abnormal... |
ORPHA:96167 |
Kilquist Syndrome |
|
Mandibular prognathia, Wide mouth, Hypoplasia of teeth |
OMIM:619080 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Abnormal thorax morphology, Flexion contracture, Thin ribs... |
ORPHA:171430 |
Cowden Syndrome 1 |
|
Colonic diverticula, Dysplastic gangliocytoma of the cerebellum, Fibroadenoma of the breast, Brea... |
OMIM:158350 |
Proximal Xq28 Duplication Syndrome |
|
Pectus excavatum, Cryptorchidism, Hypospadias |
ORPHA:1762 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Short hallux, Truncal obesity, Abnormal metacarpal morphology |
ORPHA:3224 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Achilles tendon contra... |
OMIM:607155 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly |
OMIM:615284 |
Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
Treacher-Collins Syndrome |
|
Frontal bossing, Hypoplasia of penis, Small scrotum, Hypertelorism, Absent eyelashes, Cryptorchid... |
ORPHA:861 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Micromelia, Aplasia of the ulna, Sh... |
ORPHA:2879 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Ambiguous genitalia, Hypertelorism, Cryptorchidism, Male pseudohermaphroditi... |
ORPHA:847 |
Frontometaphyseal Dysplasia 2 |
|
Decreased muscle mass, Congenital hip dislocation, Elbow contracture, Short metatarsal, Low anter... |
OMIM:617137 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Small scrotum, Short neck, Brachycephaly, Posterior plagiocephaly, Abnormal repetitive mannerisms... |
OMIM:620330 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Hydroureter, Unilateral renal agenesis, Short neck, Pectus excavatum, Cryptorchi... |
OMIM:619194 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Br... |
OMIM:300106 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Craniosynostosis, Hypertelorism, Kyphosis, Hypertrichosis, Contracture of the proximal interphala... |
OMIM:618050 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Cervical kyphosis, Decreased palmar creases, Tapered finger, Kyphoscoliosi... |
ORPHA:2953 |
Doors Syndrome |
|
Adrenal hyperplasia, Abnormal finger morphology, Hemivertebrae, Low anterior hairline, Brachyceph... |
ORPHA:79500 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Birk-Barel Syndrome |
|
Microretrognathia, Tented upper lip vermilion, Single transverse palmar crease, High palate, Shor... |
OMIM:612292 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect, Clinodactyly, Anal atresia, Cutaneous syndactyly |
OMIM:119580 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn... |
OMIM:271665 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Bifid scrotum, Finger syndactyly, Small scrotum, Toe syndactyly, Cryptorchidism, Split hand, Hypo... |
ORPHA:1300 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Short neck, Hemivertebrae, Femoral bowing, Anteriorly displaced genitalia, Foot ol... |
OMIM:276820 |
Cockayne Syndrome A |
|
Mandibular prognathia, Hip contracture, Reduced subcutaneous adipose tissue, Delayed eruption of ... |
OMIM:216400 |
Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Inguinal hernia, Abnormality of the abdominal wall, Camptodactyly, Intrauterine grow... |
OMIM:247200 |
Oliver Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Dental mal... |
ORPHA:2920 |
Xylt1-Cdg |
|
Coxa valga, Flared metaphysis, Truncal obesity, Short long bone, Short femoral neck, Short clavic... |
ORPHA:370930 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Arachnodactyly, Delayed cranial suture closure, Micrognathia |
ORPHA:1129 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal morphology of ulna, T... |
ORPHA:1307 |
Ayme-Gripp Syndrome |
|
Sparse scalp hair, Tapered finger, Pectus excavatum, Hypertelorism, Brachycephaly, Radioulnar syn... |
OMIM:601088 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Enamel hypoplasia |
ORPHA:94089 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Myocardial necrosis, Anterior rib cupping, Myelodysplasia, Metaphyseal sc... |
OMIM:260400 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Hypospadias, Arachnodactyly, Highly arched eyebrow, Coxa valga, Elbow dislocation, Cryptorchidism... |
OMIM:620083 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cryptorchidism, Deeply set eye, Hip dysplasia, 3-Methylglutaconic aciduria, Scoliosis, Lower limb... |
ORPHA:496790 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Renal cyst, Vertebral segmentation defect, Clinodactyly of the 5th finger,... |
OMIM:272460 |
Chromosome 9P Deletion Syndrome |
|
Omphalocele, Inguinal hernia |
OMIM:158170 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Frontal bossing, Sandal gap, Proteinuria, Decreased fibular diameter, Pectus excavatum, Sparse ey... |
OMIM:619127 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Bone spicule pigmentation of the retina, Postaxial polydactyly, Postaxial hand polyda... |
OMIM:209900 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies |
OMIM:307500 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Midface retrusion, Flat occiput, Short neck, Hypertelorism, Cryptorchidism, Postaxial hand polyda... |
ORPHA:1655 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:220295 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Ambiguous genitalia, ma... |
ORPHA:90793 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi... |
OMIM:184253 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased testicul... |
OMIM:610628 |
Usher Syndrome |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:886 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Tented upper lip vermilion, Overlapping toe, Flexion contracture, High palate, Thick vermilion bo... |
OMIM:619383 |
Chromosome 17Q12 Deletion Syndrome |
|
Pica, Renal cyst, Short palm, Long toe, Multicystic kidney dysplasia, Highly arched eyebrow, Spar... |
OMIM:614527 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hallux valgus, Thoracic scoliosis, Sacral dimple, Arachnodactyly, Sandal gap, Phalangeal dislocat... |
ORPHA:536532 |
Trisomy 8Q |
|
Hypoplasia of penis, Camptodactyly of finger, Short neck, Hypertelorism, Cryptorchidism, Deep pal... |
ORPHA:1752 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Brachycephaly, Depression, Hip dysplasia, Attention deficit hyperactivity disorder |
OMIM:618798 |
Fucosidosis |
|
Decreased muscle mass, Kyphosis, Brachycephaly, Mucopolysacchariduria, Anterior beaking of lumbar... |
ORPHA:349 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, ... |
ORPHA:280 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis, Skeletal muscle atrophy |
ORPHA:101078 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph... |
OMIM:154400 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Centrally nucleated skeletal muscle fibers... |
OMIM:300219 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Camptodactyly of finger, Taurodontia, Abnormal dental enamel morphology, Abnormality of the denti... |
ORPHA:3220 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Smooth philtrum, Ulnar deviation of the hand, Proximal placement of thumb, Short sternum, High pa... |
OMIM:620113 |
Shprintzen-Goldberg Syndrome |
|
Frontal bossing, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Craniosynosto... |
ORPHA:2462 |
Multiple Pterygium Syndrome, X-Linked |
|
Micrognathia, Flexion contracture, Thin ribs, Amyoplasia, Short finger, Intrauterine growth retar... |
OMIM:312150 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Tapered finger, Submucous cleft hard palate, Obesity, Downturned corner... |
OMIM:619680 |
Duplication Of The Pituitary Gland |
|
Thoracic scoliosis, Abnormal odontoid process morphology, Short neck, Hypertelorism, Abnormal pit... |
ORPHA:314621 |
Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Abnormal eyelash morphology, Cryptorchidism, Low posterior hairline, Sparse la... |
ORPHA:1252 |
Robinow Syndrome |
|
Small scrotum, External genital hypoplasia, Hemivertebrae, Clitoral hypoplasia, Webbed penis, Mic... |
ORPHA:97360 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thoracic scoliosis, Micrognathia, Thoracic kyphosis, Short palm, Clinodact... |
ORPHA:508498 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Dec... |
ORPHA:955 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Macrodontia of permanent maxillary central incisor, Retrognathia |
ORPHA:466722 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Hydrocephalus, Optic disc coloboma, Patent ductus arteriosus, Low posterior ha... |
ORPHA:261337 |
Cranioectodermal Dysplasia 2 |
|
Micrognathia, Fused teeth, High palate, Widely spaced teeth, Microdontia, Joint laxity, Syndactyl... |
OMIM:613610 |
Diabetic Embryopathy |
|
Ureteral duplication, Frontal bossing, Cryptorchidism, Abnormal sacrum morphology, Aplasia/Hypopl... |
ORPHA:1926 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Micropenis, Hypospadias, Eleva... |
ORPHA:90796 |
Knobloch Syndrome 2 |
|
Enamel hypoplasia, Micrognathia |
OMIM:618458 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m... |
OMIM:618371 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contra... |
OMIM:601559 |
Prader-Willi Syndrome |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:739 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79403 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Missing ribs, E... |
ORPHA:2769 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifi... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifi... |
ORPHA:352665 |
Ohdo Syndrome, X-Linked |
|
Small scrotum, Overlapping toe, Ulnar deviation of the hand, Hypertelorism, Sparse eyebrow, Crypt... |
OMIM:300895 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Postaxial hand polydactyl... |
ORPHA:2752 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Abnormal fingernail morphology, Unilateral hypoplasia of pectoralis major muscle, Sup... |
ORPHA:1521 |
Emanuel Syndrome |
|
Sacral dimple, Congenital hip dislocation, Torticollis, Unilateral renal agenesis, Congenital dia... |
OMIM:609029 |
Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Wormian bones, Bowi... |
OMIM:619131 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... |
OMIM:614837 |
Costello Syndrome |
|
Deep-set nails, Generalized hyperpigmentation, Abnormal fingernail morphology, Short neck, Abnorm... |
ORPHA:3071 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Lumbar hyperlordosis, Abnormal location of the eyebrow, Progressive flexion contractures, Equinus... |
ORPHA:522077 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... |
ORPHA:2519 |
Adenylosuccinase Deficiency |
|
Skeletal muscle atrophy, Hyperactivity, Aggressive behavior, Brachycephaly, Inappropriate laughte... |
OMIM:103050 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Cryptorchidism, Kyphosis, Spinal canal stenosis, Horses... |
ORPHA:1724 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Flat occiput, Short neck, Pectus excavatum, Kyphosis, Talipes cavus equinovarus, S... |
OMIM:300966 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
Tuberous Sclerosis Complex |
|
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... |
ORPHA:805 |
Mosaic Trisomy 1 |
|
Microretrognathia, Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Rocker bottom foot, Campt... |
ORPHA:1692 |
Noonan Syndrome |
|
Abnormal hair quantity, Hypogonadotropic hypogonadism, Hypertelorism, Pectus excavatum, Cryptorch... |
ORPHA:648 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Tall stature, Arachnodactyly, Hypoplasia of the musculature, Thenar mu... |
ORPHA:2463 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Single transverse palmar crease, Hypertelorism, Cryptorchidism, 2-3 toe syndactyly, Clubbing of t... |
ORPHA:3304 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Hypotelo... |
OMIM:619488 |
Renpenning Syndrome 1 |
|
Brittle hair, Hypospadias, Phimosis, Pectus excavatum, Renal hypoplasia, Brachycephaly, Sparse ha... |
OMIM:309500 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Tapered finger, Pectus excavatum, Cryptorchidism, Short t... |
ORPHA:464311 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Short neck, Congenital diaphragmatic hernia, Ab... |
ORPHA:818 |
Familial Thyroid Dyshormonogenesis |
|
Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnor... |
ORPHA:95716 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con... |
OMIM:271640 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Meningocele, Chorioretinal coloboma, Protruding ear |
ORPHA:2031 |
Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger... |
ORPHA:69085 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Foot joint contracture, Micrognathia, Dental malocclusion, Alveolar ridge overgr... |
ORPHA:444072 |
Retinitis Pigmentosa 74 |
|
Polydactyly, Obesity |
OMIM:616562 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele |
OMIM:145420 |
Faciocardiomelic Syndrome |
|
Osteopenia, Large for gestational age, Micrognathia, Dental malocclusion, Wide mouth, Slender lon... |
OMIM:612731 |
Leopard Syndrome 1 |
|
Scapular winging, Hypospadias, Limited elbow movement, Short neck, Pectus excavatum, Cryptorchidi... |
OMIM:151100 |
Bartsocas-Papas Syndrome 1 |
|
Short neck, Bilateral cryptorchidism, Ectopic kidney, Flexion contracture, Hypoplastic iliac wing... |
OMIM:263650 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia... |
ORPHA:456328 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Parathyro... |
ORPHA:99880 |
Pallister-Hall Syndrome |
|
Small scrotum, Ectopic kidney, Hemivertebrae, Gonadotropin deficiency, Micropenis, Paroxysmal bur... |
ORPHA:672 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Micrognathia, Hydrocephalus, Cutaneous syndactyly, High palate, Talipes equinova... |
OMIM:617822 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Hypogonadism, Attention deficit h... |
ORPHA:281090 |
Tyshchenko Syndrome |
|
Thick hair, Supernumerary nipple, Pectus excavatum, Cryptorchidism, Low anterior hairline, Proptosis |
OMIM:615102 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Thin upper lip vermilion, Sandal gap, High, narrow palate, Submucous cleft hard palate, Small han... |
OMIM:612863 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Kyphosis, Scoliosis, Micropenis, Ante... |
OMIM:619718 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Cryptorchidism, Small hand, Short foot, Scoliosis, Clinodactyly |
ORPHA:96184 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Frontal bossing, Overlapping toe, Highly arched eyebrow, Tapered finger, Supernumerary nipple, Cr... |
OMIM:618653 |
Say-Barber-Miller Syndrome |
|
Thoracic kyphoscoliosis, Abnormality of the hairline, Highly arched eyebrow, Hypertelorism, Spars... |
ORPHA:3132 |
Microphthalmia, Syndromic 8 |
|
Cryptorchidism, Split foot |
OMIM:601349 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Small scrotum, Hypospadias, Rhizomelia, Short femur, Sandal gap, Cryptorchidism, H... |
OMIM:607143 |
Noonan Syndrome 2 |
|
Curly hair, Short neck, Pectus excavatum, Cryptorchidism, Sparse eyebrow, Hypertelorism, Low post... |
OMIM:605275 |
Acromegaly |
|
Dysmenorrhea, Synophrys, Wide penis, Pituitary prolactin cell adenoma, Abnormal toenail morpholog... |
ORPHA:963 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Intestinal malrotation, Micrognathia, Absent frontal sinuses, Osteoporo... |
OMIM:102500 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Myopathy, Pigmentary retinopathy, Scoliosis |
OMIM:618234 |
Congenital Disorder Of Deglycosylation 1 |
|
Restlessness, Facial hypotonia, Single transverse palmar crease, Hypertelorism, Heparan sulfate e... |
OMIM:615273 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Toe syndactyly, Arachnodactyly, Intestinal pseudo-obstruction, Short palm, Ret... |
ORPHA:73246 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Ectopic kidney, Synophrys, Brachycephaly, Deeply set eye, Clinodactyly of the 5th finger, Self-mu... |
OMIM:607872 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Missing ribs, Micrognathia, Hydrocephalus, Abnormal rib morphology,... |
ORPHA:3301 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Arachnodactyly, Diastasis recti, Hypertelorism, Pectus excavatum, Cryptorchidism, Brachycephaly, ... |
OMIM:601776 |
Myhre Syndrome |
|
Short neck, Deeply set eye, Hypoplastic iliac wing, Sparse hair, Vertebral fusion, Hypertelorism,... |
OMIM:139210 |
Thoracoabdominal Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Ventral hernia |
OMIM:313850 |
Primary Ciliary Dyskinesia |
|
Male infertility, Clubbing, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Nail-Patella Syndrome |
|
Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex... |
ORPHA:2614 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Congenital bilateral hip dislocation |
ORPHA:404451 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Abnormal fingernail morphology, Dumbbell-shaped... |
ORPHA:3144 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Oral mucosal blisters, Atrophic scars, Smooth tongue, Enamel hypoplasia |
ORPHA:79396 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... |
ORPHA:364577 |
Sanjad-Sakati Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Micrognathia, Thin vermilion bor... |
ORPHA:2323 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short neck, Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx of han... |
OMIM:180700 |
Cranioectodermal Dysplasia 1 |
|
Inguinal hernia, High, narrow palate, High palate, Widely spaced teeth, Everted lower lip vermili... |
OMIM:218330 |
Multiple Endocrine Neoplasia Type 1 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Neurocutaneous Melanocytosis |
|
Meningocele, Chorioretinal coloboma |
ORPHA:2481 |
Oculoskeletodental Syndrome |
|
Cryptorchidism, Elbow flexion contracture, Low anterior hairline, Hypercalciuria, Low posterior h... |
OMIM:618440 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v... |
OMIM:300896 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Deeply set eye, Micro... |
ORPHA:268261 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis |
OMIM:612702 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Uterine l... |
ORPHA:143 |
Multiple Pterygium Syndrome, Lethal Type |
|
Micrognathia, Flexion contracture, Thin ribs, Amyoplasia, Short finger, Intrauterine growth retar... |
OMIM:253290 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Alopecia, Congenital hip dislocation |
OMIM:164180 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor |
OMIM:300291 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hypertelorism, Short neck, Cryptorchidism, Talipes equinovarus, Camptodactyly |
OMIM:608104 |
X-Linked Intellectual Disability, Seemanova Type |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Hypertelorism, Cryptorchidism, Hypogonadism |
ORPHA:85323 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micrognathia, Cleft palate, ... |
OMIM:616038 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Frontal bossing, Brachycephaly, Plagiocephaly, Deeply set eye, Lower limb hypertonia, Limb hypert... |
OMIM:617296 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Urinary incontinence, Kyphosis, Irregular mens... |
OMIM:616482 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Micromelia, Cryptorchidism, Short long bone, Talipes equinovarus, Calva... |
OMIM:224410 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Small hand, Obesity, Short fo... |
ORPHA:1001 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel |
ORPHA:169090 |
X-Linked Intellectual Disability, Nascimento Type |
|
Lumbar hypertrichosis, Overlapping toe, Hypospadias, Hypertelorism, Aggressive behavior, Cryptorc... |
ORPHA:163956 |
Emanuel Syndrome |
|
Sacral dimple, Congenital hip dislocation, Multiple joint contractures, Kyphoscoliosis, Unilatera... |
ORPHA:96170 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Micrognathia, High,... |
ORPHA:3472 |
Oculocutaneous Albinism Type 2 |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma |
ORPHA:79432 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Conical... |
ORPHA:289 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate |
ORPHA:261272 |
Corneodermatoosseous Syndrome |
|
Carious teeth, Abnormal dental enamel morphology, Gingivitis |
ORPHA:3194 |
Developmental And Epileptic Encephalopathy 95 |
|
Short fourth metatarsal, Brachydactyly, Multiple joint contractures, Single transverse palmar cre... |
OMIM:618143 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Thoracic scoliosis, Short neck, Cryptorchidism, Facet joint arthrosis, Squared ili... |
OMIM:618000 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Hypospadias, Craniosynostosis, Absent thumb, Hypertelorism, Cryptorchidis... |
ORPHA:96097 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Sandal gap, Facial hypotonia, Dolichocephaly, Sparse eyebrow, Cryptorchidism, Long... |
OMIM:617557 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Metaphyseal widening, Progressive alveolar ridge hypertropy, Split hand... |
OMIM:252500 |
Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short ... |
OMIM:183900 |
Codas Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Omphalocele |
OMIM:600373 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Camptodactyly |
OMIM:616006 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Anterior pituitary hypoplasia, Synophry... |
OMIM:619841 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Upper limb hypertonia |
ORPHA:319199 |
Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Attention deficit hyperactivity disorder |
ORPHA:461 |
Branchio-Oculo-Facial Syndrome |
|
Preaxial hand polydactyly, Deep philtrum, Non-midline cleft lip, Orofacial cleft, Tooth agenesis,... |
ORPHA:1297 |
Constricting Bands, Congenital |
|
Omphalocele, Bladder exstrophy, Gastroschisis |
OMIM:217100 |
Hyperparathyroidism, Transient Neonatal |
|
Frontal bossing, Hyperparathyroidism, Short femur, Metaphyseal spurs, Unilateral renal agenesis, ... |
OMIM:618188 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Syndactyly, Clinodactyly |
OMIM:618087 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Frontal bossing, Decreased response to growth hormone stimulation test, Cryptorchidism, Small han... |
OMIM:241410 |
Trisomy 8P |
|
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease... |
ORPHA:264450 |
Catel-Manzke Syndrome |
|
Short humerus, Short metacarpal, Short femur, Single transverse palmar crease, Short neck, Pectus... |
OMIM:616145 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Sparse scalp hair, Hypospadias, Supernumerary nipple, Tapered finger, Sparse eyebrow, Cryptorchid... |
ORPHA:477993 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Short neck, Hypoplastic toenails, Cryptorchidism, Drumstick terminal phalanges, Skull asymmetry, ... |
OMIM:612938 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Hypoplasia of the maxilla, Cleft palate, Finger clinodactyly, Pectoral m... |
ORPHA:306542 |
Sandhoff Disease |
|
Kyphosis |
ORPHA:796 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... |
ORPHA:457083 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Pectus excavatum, Kyphosis, Plagiocephaly |
ORPHA:77300 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Single transverse palmar crease, Malar flattening, Wide distal f... |
OMIM:269150 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Hypogonadotropic hypogonadism, Unilateral renal agenesis, Sparse pubic hair, Crypt... |
OMIM:308700 |
Somatomammotropinoma |
|
Dysmenorrhea, Synophrys, Pituitary prolactin cell adenoma, Abnormal toenail morphology, Generaliz... |
ORPHA:314769 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Single transverse palmar crease, Aggressive behavior, Cryptorchidism, Flexion contracture, Clinod... |
OMIM:608093 |
Achard Syndrome |
|
Broad skull, Arachnodactyly, Brachycephaly |
OMIM:100700 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Penoscrotal hypospadias, Hypospadias, Hyperpigmentation of the skin, Renal salt wasting, Female e... |
ORPHA:90791 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Camptodactyly of finger, Short neck, Hypertelorism, Crypt... |
ORPHA:284160 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Tapered finger, Spinal rigi... |
OMIM:254940 |
Chime Syndrome |
|
Aplastic clavicle, Hypertelorism, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocatio... |
ORPHA:3474 |
Fanconi Anemia |
|
Abnormal femur morphology, Abnormality of skin pigmentation, Abnormality of the uterus, Triphalan... |
ORPHA:84 |
X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Odontodysplasia, Bowing of the legs, Bead... |
ORPHA:89936 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
Pontocerebellar Hypoplasia, Type 10 |
|
Kyphoscoliosis, Short neck, Tapered finger, Cryptorchidism, Synophrys, Highly arched eyebrow, Pro... |
OMIM:615803 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Carious teeth, Metaphyseal widening, Split hand,... |
OMIM:253200 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Retrognathia, Hypoplasia of teeth |
OMIM:234050 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Myelodysplasia, Nail pits, Premature graying of hair, Squamous cell carcin... |
OMIM:127550 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Ost... |
ORPHA:666 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormal rib morphology, Micrognathia |
OMIM:601076 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Sandal gap, Broad hallux, 2-3 toe syndactyly, Cutaneous syndactyly, Short 5th f... |
OMIM:600987 |
Nicolaides-Baraitser Syndrome |
|
Dry hair, Single transverse palmar crease, Short metatarsal, Low anterior hairline, Prominent int... |
OMIM:601358 |
Floating-Harbor Syndrome |
|
Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Deep... |
OMIM:136140 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Missing ribs, Pectus excavatum, Myelomeningocele, Short thorax, Rib fusion, Hydrocephalus, Bell-s... |
OMIM:613686 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulder flexion contracture,... |
OMIM:620369 |
Chromosome 18Q Deletion Syndrome |
|
Toe syndactyly, Hypospadias, Rocker bottom foot, Proximal placement of thumb, Overlapping toe, Sh... |
OMIM:601808 |
Distal 16P11.2 Microdeletion Syndrome |
|
Arachnodactyly, Proteinuria, Kyphosis, Chronic kidney disease, Low anterior hairline, Attention d... |
ORPHA:261222 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Highly arched eyebrow, Supernumerary nipple, Hypertelorism, Cryptorchidism, 2-3 to... |
OMIM:618454 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrognathia, Dentin... |
OMIM:619269 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Pulmonary carcinoid tumor, Premature graying of hair, Papillary... |
ORPHA:363618 |
Jacobsen Syndrome |
|
Flat occiput, Hypospadias, Trigonocephaly, Short neck, Pectus excavatum, Cryptorchidism, Abnormal... |
OMIM:147791 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Short thumb, Pylori... |
OMIM:263750 |
Gapo Syndrome |
|
Joint hypermobility, Delayed closure of the anterior fontanelle, Micrognathia, High, narrow palat... |
OMIM:230740 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormality of the dentition, Flexion contracture, Large fontanelles, Limitation of joint mobilit... |
ORPHA:90153 |
Cowden Syndrome 6 |
|
Colonic diverticula, Fibroadenoma of the breast, Breast carcinoma, Furrowed tongue, Hamartomatous... |
OMIM:615109 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Hypertelorism, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Hip dislocation, F... |
OMIM:614438 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Open bite, Abnormality of the ... |
OMIM:115150 |
Srd5A3-Cdg |
|
Decreased response to growth hormone stimulation test, Abnormal hair morphology, Kyphosis, Abnorm... |
ORPHA:324737 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Single transverse palmar crease, Abnormal form of the vertebral bodies, Hy... |
OMIM:194190 |
Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Postaxial hand polydactyly, Supernumerary tooth, Cone-shaped epiphysis, Sh... |
OMIM:617088 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Synophrys, Scoliosis... |
OMIM:619557 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, High palate, Sho... |
ORPHA:798 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Small scrotum, Female hypogonadism, Single transverse palma... |
OMIM:607932 |
Monosomy 22 |
|
Schwannoma, Contractures of the large joints, Gonadal neoplasm, High palate, Meningioma, Sarcoma |
ORPHA:96123 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Kyphosis, Dysphagia, Limb hypertonia |
ORPHA:500180 |
Tbck-Related Intellectual Disability Syndrome |
|
Broad toe, Neurogenic bladder, Thick eyebrow, Skeletal muscle atrophy, Decreased response to grow... |
ORPHA:488632 |
Lymphangiectasia, Intestinal |
|
Stillbirth, Prominent floating ribs |
OMIM:152800 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... |
ORPHA:570 |
Zttk Syndrome |
|
Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft hard p... |
OMIM:617140 |
Alstrom Syndrome |
|
Alopecia, Renal insufficiency, Hypergonadotropic hypogonadism, Decreased response to growth hormo... |
OMIM:203800 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Short neck, Hypertelorism, Cryptorchidism, Pigmentary retinopathy, ... |
OMIM:614230 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Pectus excavatum, Kyphosis, Long palm, Scoliosis |
OMIM:300676 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Azoospermia, Hypogonadism, Micropenis, Decreased testicular size |
OMIM:614897 |
Chops Syndrome |
|
Curly hair, Thick hair, Hypertelorism, Cryptorchidism, Synophrys, Horseshoe kidney, Coarse hair, ... |
OMIM:616368 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Trismus, Abnormal rib morphology, Palmoplantar hyperk... |
ORPHA:2907 |
Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Selective tooth agenesis, Abnormali... |
ORPHA:2909 |
Alg3-Cdg |
|
Neural tube defect, Abnormal pinna morphology, Hearing impairment |
ORPHA:79321 |
Noonan Syndrome 10 |
|
Curly hair, Left ventricular hypertrophy, Short neck, Pectus excavatum, Cryptorchidism, Sparse ey... |
OMIM:616564 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Thick hair, Onychauxis, Precocious puberty, Long penis, Low anterior hairline, ... |
ORPHA:769 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Congenital muscular torticollis, Sprengel anomaly, Abnormal rib morphology, Webbed neck |
OMIM:118100 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Single trans... |
OMIM:617527 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Single transverse palmar crease, Hypertelorism, Kyphosis, 2-3 toe syndactyly, Scolio... |
OMIM:616449 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Kyphosis, Pituitary adenoma, Nephrolithiasis, Oligomenorrhea, Biconcave ... |
OMIM:219090 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Craniosynostosis, Pect... |
OMIM:616914 |
Developmental And Epileptic Encephalopathy 89 |
|
Omphalocele, Flexion contracture |
OMIM:619124 |
Trisomy 10P |
|
Thumb contracture, Wide cranial sutures, Abnormality of the hand, Micrognathia, Short toe, Orofac... |
ORPHA:171929 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Craniosynostosis, Pectus excavatum, Precocious puberty, Upper limb undergrowt... |
ORPHA:369837 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Flat occiput, Single transverse palmar crease, Anterior concavity of ... |
OMIM:216340 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Hypoplas... |
ORPHA:233 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Alopecia, Brain neoplasm, Skeletal muscle atrophy, Choroidal melanoma, Abn... |
ORPHA:273 |
Bardet-Biedl Syndrome 20 |
|
Proteinuria, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe... |
OMIM:619471 |
3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Cryptorchidism, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Diaphragmati... |
OMIM:610198 |
Adrenal Hypoplasia, Congenital |
|
Hypogonadotropic hypogonadism, Renal salt wasting, Precocious puberty, Cryptorchidism, Oligozoosp... |
OMIM:300200 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, Hypoplasia of the musculature, Pectus excavatum, Cryptorchidism, Ulnar d... |
ORPHA:1101 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Decreased muscle mass, Hypospadias, Decreased respo... |
ORPHA:96182 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Micrognathia, Rib fusion, Obesity,... |
ORPHA:261197 |
Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, Carious teeth, Ena... |
ORPHA:2363 |
Gracile Bone Dysplasia |
|
Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Brachydactyly |
OMIM:602361 |
Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hypospadias, Camptodactyly of finger, Cryptorchidism, Flexion contracture, 3-Methylglutaconic aci... |
ORPHA:1194 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Skeletal muscle atrophy, Limb joint contracture, Tapered finger, Flexion contracture, Brachycepha... |
OMIM:301072 |
Macs Syndrome |
|
Alopecia, Hypergonadotropic hypogonadism, Single transverse palmar crease, Pectus excavatum, Cryp... |
OMIM:613075 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Enamel hypoplasia |
ORPHA:79444 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Localized neuroblastoma, Umbilical hernia, Upper limb asymmetry, Micrognathia |
ORPHA:2505 |
Cog5-Cdg |
|
Neurogenic bladder, Camptodactyly of finger, Urinary incontinence, Short neck, Cryptorchidism, Ge... |
ORPHA:263487 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ... |
OMIM:615842 |
D-Bifunctional Protein Deficiency |
|
Osteopenia, Micrognathia, Split hand, Large fontanelles, Hammertoe, High palate, Talipes equinova... |
OMIM:261515 |
Rothmund-Thomson Syndrome Type 1 |
|
Patellar hypoplasia, Sparse hair, Hypopigmentation of the skin, Short phalanx of finger, Genu var... |
ORPHA:221008 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Single transverse palmar crease, Protruding tongue, Submucous cleft hard palate,... |
OMIM:618106 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Frontal bossing, Short metacarpal, Sacral dimple, Short neck, Hypertelorism, Short metatarsal, Re... |
OMIM:617157 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Multiple joint contractures, Hypospadias, Camptodactyly of finger, Unilate... |
ORPHA:468631 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minor... |
ORPHA:2510 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Hypospadias, Rocker bottom foot, Cryptorchidism, Radial club hand... |
OMIM:617053 |
X-Linked Intellectual Disability, Pai Type |
|
Hydrocele testis, Cryptorchidism, Tapered finger |
ORPHA:85322 |
Bloom Syndrome |
|
Syndactyly, Decreased fertility in females, Cryptorchidism, Spotty hypopigmentation, Azoospermia,... |
OMIM:210900 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size |
OMIM:616030 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased muscle mass, Elbow contracture, Micrognathia, Congenital contracture, Generalized amyot... |
OMIM:208150 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Abnormal dental morphology, Delayed eruption of primary teet... |
ORPHA:191 |
Megalocornea-Intellectual Disability Syndrome |
|
Frontal bossing, Tapered finger, Hypertelorism, Kyphosis, Scoliosis, Metatarsus valgus, Abnormal ... |
ORPHA:2479 |
Sialidosis Type 2 |
|
Kyphosis, Nephropathy, Flexion contracture, Skeletal muscle atrophy |
ORPHA:87876 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Short thumb, Preaxia... |
OMIM:227646 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Renal cyst, Pectus carinatum, Narrow grea... |
OMIM:312870 |
Crisponi Syndrome |
|
Kyphosis, Flexion contracture, Camptodactyly of finger, Scoliosis |
ORPHA:1545 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
X-Linked Intellectual Disability, Armfield Type |
|
Cryptorchidism, Abnormality of the elbow, Small hand, Brachycephaly, Short foot, Aminoaciduria, O... |
ORPHA:85276 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Omphalocele, Umbilical hernia |
ORPHA:2241 |
Cohen-Gibson Syndrome |
|
Thin nail, Coxa valga, Hypertelorism, Long fingers, Cryptorchidism, Flexion contracture, Flared m... |
OMIM:617561 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Neuroblastoma, Aganglionic megacolon, Ganglioneuroma, Ganglioneuroblastoma |
OMIM:209880 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Abnormality of retinal pigmentation, Skeletal muscle atrophy, Anorexia, Pectus... |
ORPHA:1969 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Joint laxity, Hip dislocation, Talipes equinovarus, Wormian bones, Delayed cranial su... |
OMIM:616603 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Precocious puberty, Cryptorchidism, Attention deficit hyperactivity disorder, Supernumerary nipple |
OMIM:619243 |
Fryns Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:2059 |
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2 |
|
Absent nipple, Highly arched eyebrow, Cryptorchidism, Male urethral meatus stenosis, Hypoplastic ... |
OMIM:616001 |
Proteus Syndrome |
|
Central heterochromia, Decreased muscle mass, Abnormal finger morphology, Abnormal form of the ve... |
ORPHA:744 |
Neurofibromatosis Type 1 |
|
Astrocytoma, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromocytoma, Meningio... |
ORPHA:636 |
Pitt-Hopkins Syndrome |
|
Single transverse palmar crease, Supernumerary nipple, Tapered finger, Short neck, Cryptorchidism... |
ORPHA:2896 |
Chronic Mucocutaneous Candidiasis |
|
Cheilitis, Abnormal lip morphology, Abnormal dental enamel morphology |
ORPHA:1334 |
Toluene Embryopathy |
|
Cryptorchidism, Hydronephrosis, Biparietal narrowing, Tapered finger |
ORPHA:1920 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Sparse pubic hair, Cryptorchidism, Micr... |
OMIM:308750 |
16P13.11 Microdeletion Syndrome |
|
Camptodactyly of finger, Pectus excavatum, Cryptorchidism, Self-injurious behavior, Talipes equin... |
ORPHA:261236 |
Mgat2-Cdg |
|
Hypertelorism, Pectus excavatum, Kyphosis, Stereotypical hand wringing, Long eyelashes, Hypoplast... |
ORPHA:79329 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Frontal bossing, Lumbar hyperlordosis, Hypospadias, Hypertelorism, Cryptorchidism, Wi... |
OMIM:616975 |
Coffin-Siris Syndrome 12 |
|
Synophrys, Low anterior hairline, Hypotelorism, Deeply set eye, Abnormal repetitive mannerisms, H... |
OMIM:619325 |
Cerebrofacioarticular Syndrome |
|
Syndactyly, Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Large fontanelles, Anteriorly... |
ORPHA:314679 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum |
OMIM:140850 |
Pseudotrisomy 13 Syndrome |
|
Cyclopia, Cryptorchidism, Postaxial hand polydactyly, Hemivertebrae, 2-3 toe syndactyly, Renal hy... |
OMIM:264480 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Bifid scrotum, Hypospadias, Overlapping toe, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Cu... |
OMIM:613026 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Severe sensorineural hearing impairment, Meningocele |
ORPHA:2003 |
Tenorio Syndrome |
|
Osteopenia, Joint laxity, Mandibular prognathia, Wide mouth, Macroglossia, Recurrent aphthous sto... |
OMIM:616260 |
Diphallia |
|
Bifid scrotum, Ureteral duplication, Rectoperineal fistula, Hypospadias, Distal urethral duplicat... |
ORPHA:227 |
Seckel Syndrome |
|
Tooth agenesis, Abnormal dental enamel morphology, Micrognathia |
ORPHA:808 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Limitation of neck motion, Neural tube defect, ... |
ORPHA:268810 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Proximal placement of thumb, Cryptorchidism, Postaxial foot polydactyly, Nail ... |
ORPHA:139471 |
Marden-Walker Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Joint stiffness, Metatarsus adductus, Pyloric stenosis, ... |
ORPHA:2461 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Kyphosis, Fine hair, Talipes equinovarus, Scolios... |
OMIM:617988 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Tapered finger, Long fingers, Calcaneovalgus deformity, Nephrolithiasis, Brachycephaly, Abnormali... |
ORPHA:521445 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... |
OMIM:604292 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal curvature of the vertebral column, Compulsive behaviors, Vesicoureteral reflux, Abnormal... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal curvature of the vertebral column, Compulsive behaviors, Vesicoureteral reflux, Abnormal... |
ORPHA:353277 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Umbilical hernia, Narrow chest... |
ORPHA:1517 |
Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Decreased response to growth hormone stimulation test, Absent thumb, Cryptorchidis... |
OMIM:603467 |
Pentalogy Of Cantrell |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:1335 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Small scrotum |
ORPHA:168593 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Prominent metopic ridge, Duplication of thumb phalanx, Joint stiffness, Micrognathia, Large fonta... |
ORPHA:2995 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... |
OMIM:129900 |
Benign Schwannoma |
|
Intestinal polyposis, Facial palsy, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestib... |
ORPHA:252164 |
Mucopolysaccharidosis, Type Ii |
|
Abnormality of retinal pigmentation, Short neck, Heparan sulfate excretion in urine, Kyphosis, Sp... |
OMIM:309900 |
Alg12-Cdg |
|
Sandal gap, Hypospadias, Ulnar deviation of the wrist, Proximal placement of thumb, Cryptorchidis... |
ORPHA:79324 |
Aspergillosis |
|
Abnormal long bone morphology, Sinusitis, Abnormal rib morphology, Hematological neoplasm |
ORPHA:1163 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Submucous cleft hard palate, Thick lower lip vermilion, Wide mouth, Unilat... |
OMIM:619103 |
Manitoba Oculotrichoanal Syndrome |
|
Omphalocele |
OMIM:248450 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Depression, Scol... |
OMIM:128100 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism |
OMIM:612370 |
Stt3B-Cdg |
|
Cryptorchidism, Micropenis, Small scrotum |
ORPHA:370924 |
Opitz Gbbb Syndrome |
|
Omphalocele, Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia |
ORPHA:2745 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Skeletal muscle hypertrophy, Kyphosis, Scoliosis |
ORPHA:99014 |
Cowden Syndrome 5 |
|
Pectus excavatum, Kyphosis, Palmoplantar hyperkeratosis, Hydrocele testis, Ovarian cyst, Scoliosi... |
OMIM:615108 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado... |
OMIM:194072 |
Gm1-Gangliosidosis, Type I |
|
Frontal bossing, Short neck, Hypertelorism, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Be... |
OMIM:230500 |
Diamond-Blackfan Anemia |
|
Cleft soft palate, Absent thumb, Micrognathia, Short thumb, Partial duplication of thumb phalanx,... |
ORPHA:124 |
Ctcf-Related Neurodevelopmental Disorder |
|
Single transverse palmar crease, Synophrys, Deeply set eye, Joint contracture of the 5th finger, ... |
ORPHA:363611 |
Pontocerebellar Hypoplasia, Type 17 |
|
Hypertelorism, Kyphosis, Low anterior hairline, Dysphagia, Limb hypertonia |
OMIM:619909 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Sh... |
OMIM:227650 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Cryptorchidism, Micropenis, Hypoplasia of the ovary, Primary amenorrhea |
OMIM:618841 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology |
ORPHA:2578 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Micrognathia, Cleft lip, Cleft palate, Submucous cleft of soft and hard... |
OMIM:301022 |
Ochoa Syndrome |
|
Renal insufficiency, Urinary incontinence, Cryptorchidism, Urethral obstruction, Vesicoureteral r... |
ORPHA:2704 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Mixed hearing impairment, Facial palsy, Optic disc coloboma, Severe ... |
OMIM:620186 |
Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Enamel hypoplasia |
ORPHA:79443 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Sacral dimple, Frontal bossing, Postaxial polydactyly, Highly arched eyebro... |
OMIM:618460 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
Focal Dermal Hypoplasia |
|
Ridged nail, Ureteral duplication, Linear hyperpigmentation, Congenital hip dislocation, Brittle ... |
OMIM:305600 |
Chromosome 1P35 Deletion Syndrome |
|
Hypertelorism, Cryptorchidism, Increased femoral anteversion, Hip dysplasia, Clinodactyly of the ... |
OMIM:617930 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Flat occiput, Hypospadias, Single transverse palmar crease, Congeni... |
ORPHA:1596 |
Humeroradial Synostosis |
|
Renal insufficiency, Humeroradial synostosis, Brachycephaly |
OMIM:236400 |
Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Esophageal varix, Absent... |
ORPHA:974 |
Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Multicystic kidney dysplasia, Frontal bo... |
ORPHA:2308 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Hypogonadism, External genital hypoplasia |
ORPHA:363741 |
Hennekam-Beemer Syndrome |
|
Camptodactyly of finger, Micrognathia, Thick lower lip vermilion, High palate, Clinodactyly of th... |
ORPHA:2135 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Prominent antihelix, Branchial anomaly, Posteriorly rotated ears, Hearing impairment |
ORPHA:466950 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Cryptorchidism, Stage 5 chronic kidney disease, Nephrot... |
OMIM:617575 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Short Stature With Microcephaly And Distinctive Facies |
|
Microretrognathia, Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Sho... |
OMIM:615789 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Obsessive-compulsive trait, Attention deficit hyperactivity disorder |
OMIM:619908 |
Peters Plus Syndrome |
|
Ureteral duplication, Micromelia, Short neck, Brachycephaly, Clitoral hypoplasia, Clinodactyly of... |
ORPHA:709 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Genu valgum, Macroglossia, Broad ribs, Abnormal metaphysis morph... |
ORPHA:583 |
Bosma Arhinia Microphthalmia Syndrome |
|
Inguinal hernia, Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypopl... |
OMIM:603457 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Absent gallbladder, Hypospadias, Rocker bottom... |
ORPHA:163979 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hip dislocation, Joint subluxation, Talip... |
OMIM:617821 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Renal corticomedullary cysts, Postaxial polydactyly |
OMIM:219730 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Rocker bottom foot, Lon... |
ORPHA:521426 |
Flynn-Aird Syndrome |
|
Kyphosis, Alopecia, Scoliosis, Skeletal muscle atrophy |
ORPHA:2047 |
Fanconi Anemia, Complementation Group P |
|
Absent thumb, Cryptorchidism, Short thumb, Hypoplasia of the radius, Horseshoe kidney, Cafe-au-la... |
OMIM:613951 |
Urofacial Syndrome 1 |
|
Urethral valve, Hydroureter, Cryptorchidism, Urethral obstruction, Enuresis, Hydronephrosis |
OMIM:236730 |
Kallmann Syndrome |
|
Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Decreased fertil... |
ORPHA:478 |
8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Sacral dimple, Hypogonadotropic hypogonadism, Hypertelorism, Cryptorchidism,... |
ORPHA:251066 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Hyperactivity, Short neck, Hypertelorism, Cryptorchidism, Deep pal... |
OMIM:607721 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Overlapping toe, Arachnodactyly, Single transverse palmar crease, Biliary hyperplasia, Cryptorchi... |
ORPHA:83617 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Single transverse palmar crease, Micrognathia, Carious tee... |
OMIM:223370 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Stt3A-Cdg |
|
Cryptorchidism, Micropenis, Small scrotum |
ORPHA:370921 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Polydactyly, Hepatic cysts |
OMIM:616307 |
Choanal Atresia |
|
Tracheomalacia, Chronic sinusitis, Polydactyly, Craniosynostosis |
ORPHA:137914 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Small scrotum, Camptodactyly of finger, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Sc... |
ORPHA:1968 |
Cloacal Exstrophy |
|
Omphalocele, Bladder exstrophy, Cloacal exstrophy |
ORPHA:93929 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodactyly of the 5th ... |
ORPHA:158687 |
Faundes-Banka Syndrome |
|
Sparse scalp hair, Frontal bossing, Premature thelarche, Hypertelorism, Hypoplastic toenails, Cry... |
OMIM:619376 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Frontal bossing, Urinary excretion of sialylated oligosaccharides, Kypho... |
ORPHA:812 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phala... |
OMIM:105650 |
Meckel Syndrome, Type 1 |
|
External genital hypoplasia, Short neck, Ambiguous genitalia, female, Hypotelorism, Ambiguous gen... |
OMIM:249000 |
Cockayne Syndrome Type 3 |
|
Carious teeth, Enamel hypoplasia, Flexion contracture |
ORPHA:90324 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Frontal bossing, Highly arched eyebrow, Short neck, Pectus excavatum, Cryptorchidism, Hypertelori... |
OMIM:613563 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Small scrotum, Short neck, Vesicoureteral reflux, Micropenis, Paroxysmal bursts of laughter, Hype... |
OMIM:309580 |
Meier-Gorlin Syndrome 3 |
|
Small scrotum, Hypospadias, Sparse axillary hair, Aplasia/Hypoplasia of the patella, Sparse pubic... |
OMIM:613803 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Decreased response to growth hormone stimulation test, Calcaneovalgus deform... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Decreased response to growth hormone stimulation test, Calcaneovalgus deform... |
ORPHA:363958 |
Common Variable Immunodeficiency |
|
Gastrointestinal stroma tumor, Lymphoma, Anal atresia |
ORPHA:1572 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Rib fusion |
OMIM:608681 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Tarsal synostosis, Cryptorch... |
ORPHA:2473 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Joint laxity, Dental crowding, High, narrow palate, Narrow mouth, Wide mouth, Shor... |
OMIM:300967 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Cryptorchidism, Micropenis |
OMIM:202150 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Back pain, Single transverse palmar crease, Synophrys, Abnormal curvature of the v... |
OMIM:619475 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Torticollis, Cryptorchidism, Melanocytic nevus, Pyelonephritis, Oligozoospermia, Nephritis |
OMIM:314300 |
Coffin-Siris Syndrome |
|
Sparse scalp hair, Thick eyebrow, Hypoplastic fifth toenail, Hypospadias, Hyperactivity, Aggressi... |
ORPHA:1465 |
Iniencephaly |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Fused cervical verteb... |
OMIM:619227 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Aspartylglucosaminuria |
|
Aspartylglucosaminuria, Kyphosis, Brachycephaly, Macroglossia, Platyspondyly, Spondylolysis, Scol... |
OMIM:208400 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Streak ovary, Hypospadias, Acrania, Kyphoscoliosis, Hypertelorism, Cryptorchidism, Ut... |
OMIM:618820 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth, Flexion con... |
ORPHA:79408 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Sensorineural hearing impairment, Abnormal earlobe morphology, Intrauterine gr... |
ORPHA:261330 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hallux valgus, Curly hair, Sacral dimple, Congenital hip dislocation, Overlapping toe, Thoracolum... |
ORPHA:480880 |
Opitz Gbbb Syndrome |
|
Frontal bossing, Hypospadias, Hypertelorism, Rectourethral fistula, Cryptorchidism, Widow's peak,... |
OMIM:300000 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De... |
OMIM:610829 |
Fanconi Anemia, Complementation Group C |
|
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Short thumb, Ectopic... |
OMIM:227645 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Clinodactyly, Renal hypoplasia, Hypote... |
OMIM:616541 |
Floating-Harbor Syndrome |
|
Short neck, Renal cyst, Nephrocalcinosis, Deeply set eye, Humeral pseudarthrosis, Compulsive beha... |
ORPHA:2044 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Cryptorchidism, Blue irides, Hypopigmented skin patches, Prematur... |
OMIM:613266 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Frontal bossing, Slow-growing hair, Highly arched eyebrow, Short neck, Pectus excavat... |
OMIM:617506 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Smooth philtrum, Hyperextensibility at elbow, Arachnodactyly, Sagittal craniosynostosis, Absent t... |
ORPHA:500150 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Cavernous hemangioma, Brachydactyly |
OMIM:616028 |
Mucopolysaccharidosis, Type X |
|
Spatulate ribs, Broad clavicles, Genu valgum, Hip dysplasia, Broad ribs, Left ventricular hypertr... |
OMIM:619698 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Hypertelorism, Bilateral cryptorchidism... |
OMIM:613457 |
Congenital Myopathy 9A |
|
Cryptorchidism, EMG: myopathic abnormalities |
OMIM:618822 |
3Mc Syndrome 1 |
|
Omphalocele, Abnormality of the abdominal wall, Diastasis recti |
OMIM:257920 |
Hatipoglu Immunodeficiency Syndrome |
|
Hypospadias, Hyperpigmented/hypopigmented macules, Cryptorchidism, Hemivertebrae, Premature grayi... |
OMIM:620331 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Carious teeth, ... |
ORPHA:93325 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, A... |
ORPHA:534 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous genitalia, male, Partial deve... |
OMIM:608800 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Ohdo Syndrome, Sbbys Variant |
|
Hypospadias, Cryptorchidism, Prominent occiput, Long thumb, Long hallux |
OMIM:603736 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Ankle flexion contracture, Abnormal fear-induced behavior, Depression, Increased ur... |
ORPHA:100924 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Skeletal muscle atrophy, Short femur, Hypospadias, Abnormal mitochondrial shape, A... |
ORPHA:17 |
Walker-Warburg Syndrome |
|
Metatarsus valgus, Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:899 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Hermansky-Pudlak Syndrome |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79430 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Craniosynostosis, Cryptorchidism, Plagiocephaly, Hydronephrosis, Brachydactyly |
ORPHA:457193 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Urethral stricture, Alopecia, Avascular necrosis of the capital femoral epiphysis, Cryptorchidism... |
OMIM:613990 |
46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Single transverse palmar crease, ... |
OMIM:229850 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Renal insufficiency, Primary testicular failure, Proteinuria, Nocturia, Oligozo... |
ORPHA:85450 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
Down Syndrome |
|
Sandal gap, Single transverse palmar crease, Hypoplastic iliac wing, Brushfield spots, Atlantoaxi... |
OMIM:190685 |
Kabuki Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Highly arched eyebrow, Congenital ... |
ORPHA:2322 |
Hurler-Scheie Syndrome |
|
Camptodactyly of finger, Thenar muscle atrophy, Heparan sulfate excretion in urine, Contracture o... |
OMIM:607015 |
Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, High palate, Broa... |
OMIM:619472 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Skeletal muscle atrophy, Adrenal hyperplasia, Kyphosis, Depression, Macronodular adrenal hyperpla... |
OMIM:219080 |
Acrocephalopolydactylous Dysplasia |
|
Omphalocele |
OMIM:200995 |
C Syndrome |
|
Sacral dimple, Toe syndactyly, Bilateral single transverse palmar creases, Multicystic kidney dys... |
ORPHA:1308 |
Subaortic Stenosis-Short Stature Syndrome |
|
Short neck, Kyphosis, Scoliosis, Synostosis of carpal bones, Bilateral single transverse palmar c... |
ORPHA:3191 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology |
ORPHA:251004 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Small scrotum, Hypospadias, Tapered finger, Pectus excavatum, Cryptorchidism, Long fingers, Short... |
OMIM:616734 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Carious teeth, Fle... |
ORPHA:2908 |
Meckel Syndrome |
|
Encephalocele, Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Micrognathia, Preaxial... |
ORPHA:564 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Pyloric stenosis, Wide anterior fontanel, Hip dislocation, Joint subluxation, Small... |
ORPHA:90349 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contracture of the p... |
OMIM:300166 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Pectus excavatum, Brachycephaly, Azoospermia, Scoliosis, Abnormal temper tantrums,... |
ORPHA:2072 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Omphalocele, Diastasis recti |
OMIM:618419 |
Chand Syndrome |
|
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... |
ORPHA:1401 |
Loeys-Dietz Syndrome 2 |
|
Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Eosinophili... |
OMIM:610168 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Tapered finger, Hypertelorism, Cryptorchidism, Synophrys, Dolichocephaly, Deeply set eye, Horizon... |
OMIM:617330 |
Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Cleft palate, Cutaneous syndactyly |
ORPHA:2890 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Tongue thrusting, Irritability, Talipes equinovarus, Scoliosis, Bruxism, Abnormal repet... |
OMIM:613454 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Ureteral stenosis, Arachnodactyly, Abnormal thumb morphology, Cryptorch... |
ORPHA:2719 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hypogonadism |
OMIM:601794 |
Rothmund-Thomson Syndrome Type 2 |
|
Patellar hypoplasia, Sparse hair, Hypopigmentation of the skin, Short phalanx of finger, Genu var... |
ORPHA:221016 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis, Depression, Ovarian cyst, Agitation, Emotional lability |
OMIM:610475 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Scoliosis |
OMIM:619761 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Enamel hypomineralization |
OMIM:307800 |
Noonan Syndrome 1 |
|
Male infertility, Pectus excavatum of inferior sternum, Hypospadias, Kyphoscoliosis, Short neck, ... |
OMIM:163950 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Camptodactyly of finger, Hydrocephalus, Abnormality of the elbow, A... |
ORPHA:93473 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Cleft soft palate, Flexion contracture, Genu valgum, Downturned corners o... |
OMIM:619321 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Single transverse palmar crease, Urinary incontinence, Hypoplastic toenails, ... |
OMIM:619522 |
Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Proteinuria, Decreased response to growth hormone stimulation test, Bowing... |
ORPHA:1855 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Hydrocephalus, Umbilical hernia, High palate, Cubitus valgus |
OMIM:104350 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Overlapping toe, Proteinuria, Hypertelorism, Precocious puberty, Cryptorchidism, Sparse hair, Sco... |
OMIM:616682 |
Immunodeficiency 49 |
|
Wormian bones, Natal tooth, Short philtrum, Micrognathia |
OMIM:617237 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Bell-shaped thorax, Horizontal ribs, Micrognathia |
OMIM:614857 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Micrognathia, Spina... |
OMIM:256520 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Large for gestational age |
OMIM:614520 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Dysphagia, Arthrogryposis multiplex c... |
OMIM:617143 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Hypospadias, Hypertelorism, Cryptorchidism, Split hand, Clubbing, Shawl scrotum, Micropenis |
OMIM:600460 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Camptod... |
ORPHA:464 |
Eec Syndrome |
|
Abnormal dental enamel morphology, Carious teeth, Cleft palate, Orofacial cleft, Tooth agenesis, ... |
ORPHA:1896 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Renal salt wasting, Sex reversal, Ambiguous genitalia, male, Generalized bronze hyperpigmentation... |
ORPHA:168558 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Ogden Syndrome |
|
Large posterior fontanelle, Congenital hip dislocation, Micrognathia, Deep philtrum, High palate,... |
OMIM:300855 |
Menkes Disease |
|
Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Malabsorption, M... |
ORPHA:565 |
Alexander Disease |
|
Frontal bossing, Facial palsy, Hyperlordosis, Precocious puberty, Kyphosis, Short neck, Depressio... |
ORPHA:58 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Omphalocele, Umbilical hernia |
ORPHA:2166 |
Pagod Syndrome |
|
Encephalocele, Abnormal clavicle morphology, Multicystic kidney dysplasia, Spina bifida, Congenit... |
ORPHA:991 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Holoprosencephaly, Triphalangeal thumb, 2-4 finger syndactyly, 2-3 toe syndacty... |
OMIM:107480 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Unilateral renal agenesis, Precocious puberty, Brachycephaly, Rectovaginal fistula, Thick eyebrow |
OMIM:608980 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Deeply set eye, Biparietal narrowing, Scoliosis |
ORPHA:261190 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Missing ribs, Small hand, Rib fusion, Multiple lipomas, Hip dysplas... |
ORPHA:50 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Metaphyseal widening, Aminoaciduria, Renal Fa... |
OMIM:219800 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Aganglionic megacolon, Cleft palate |
ORPHA:66629 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Renal salt wasting, Sex reversal, Ambiguous genitalia, male, Generalized bronze hyperpigmentation... |
ORPHA:289548 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Kyphosis, Secondary amenorrhea, Depression, Agitation, Emotiona... |
OMIM:610489 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Tolchin-Le Caignec Syndrome |
|
Arachnodactyly, Micrognathia, Submucous cleft hard palate, High palate, Narrow mouth, Clinodactyl... |
OMIM:618971 |
Grange Syndrome |
|
Finger clinodactyly, Syndactyly, Brachydactyly |
OMIM:602531 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
Hydrolethalus Syndrome 1 |
|
Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha... |
OMIM:236680 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Frontal bossing, Arachnodactyly, Hyperlordosis, Sparse eyebrow, Kyphosis, Hypertelorism, Large ha... |
OMIM:617011 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Dolichocephaly, Kyphosis, Knee flexion contracture, Rectovaginal fistula, Bilateral talipes equin... |
OMIM:619708 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Diaphyseal sclerosis, Platyspondyly, Lo... |
OMIM:618476 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... |
OMIM:615926 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
Occipital Horn Syndrome |
|
Short humerus, Pelvic bone exostoses, Coxa valga, Broad clavicles, Capitate-hamate fusion, Pectus... |
OMIM:304150 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis, Hypoplasia of the radius,... |
ORPHA:3404 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Intrauterine growth retardation |
ORPHA:436252 |
Branchiooculofacial Syndrome |
|
Posteriorly rotated ears, Facial palsy, Short neck, Sensorineural hearing impairment, Low posteri... |
OMIM:113620 |
Restrictive Dermopathy |
|
Osteopenia, Natal tooth, Multiple joint contractures, Camptodactyly of finger, Micrognathia, Narr... |
ORPHA:1662 |
Alg1-Cdg |
|
Kyphosis, Renal insufficiency, Nephrotic syndrome, Scoliosis |
ORPHA:79327 |
Peters-Plus Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Hypoplasia of the max... |
OMIM:261540 |
Rett Syndrome |
|
Skeletal muscle atrophy, Kyphosis, Short foot, Scoliosis, Bruxism, Stereotypical hand wringing |
OMIM:312750 |
Congenital Sialidosis Type 2 |
|
Umbilical hernia, Hydrocephalus, Polydactyly |
ORPHA:93400 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Micrognathia, Cleft upper lip, Preaxial hand polydactyly, Abnormal pelvis bone ossifi... |
ORPHA:93271 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Malar flattening, Tapered finger, Hip dislocation, Obesity, Genu valgum, Hip dysplasia, Umbilical... |
OMIM:301066 |
Aniridia-Absent Patella Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the patella |
ORPHA:1069 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Micrognathia, Carious teeth, Atrophic scars, High palate, Long philt... |
ORPHA:536467 |
Fanconi Anemia, Complementation Group E |
|
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Short thumb, Ectopic... |
OMIM:600901 |
Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Congenital di... |
OMIM:613406 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Downturned corners of mouth, Short philtrum, Premature loss of teeth, Long toe, 2-3 t... |
ORPHA:3455 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndacty... |
OMIM:270400 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Clinodactyly, Hydrocephalus |
ORPHA:2169 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Posteriorly rotated ears, Optic nerve hypoplasia, Asymmetry of the ears, Short ne... |
ORPHA:508488 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Mckusick-Kaufman Syndrome |
|
Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Cryptorchidism, ... |
OMIM:236700 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Neoplasm of the tongue, Joint... |
ORPHA:3047 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hemivertebrae, Abnormal vertebral morphology |
ORPHA:77298 |
Dermatomyositis |
|
Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Inflammatory myopathy, Neoplasm, Lung ... |
ORPHA:221 |
Tetrasomy 9P |
|
Joint dislocation, Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short... |
ORPHA:3310 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormal curvature of the vertebral column, Compulsive behaviors, Vesicoureteral reflux, Abnormal... |
ORPHA:353281 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Rocker bottom foot, Single transverse palmar crease, Met... |
OMIM:272950 |
Multiple Endocrine Neoplasia, Type Iib |
|
Hyperlordosis, Pectus excavatum, Kyphosis, Elevated urinary epinephrine level, Myopathy, Pheochro... |
OMIM:162300 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Camptodactyly of finger, Aggressive behavior, Wrist swell... |
OMIM:309000 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Smooth philtrum, Craniosynostosis, Tapered finger, Micrognathia, Small hand, Hi... |
OMIM:620005 |
Velocardiofacial Syndrome |
|
Abnormality of the hand, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin ... |
OMIM:192430 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Erosion of oral mucosa, Abnormal oral mucosa morphology |
ORPHA:79404 |
Cockayne Syndrome B |
|
Dry hair, Renal insufficiency, Proteinuria, Abnormal hair morphology, Cryptorchidism, Kyphosis, I... |
OMIM:133540 |
Mucolipidosis Type Ii |
|
Hip contracture, Dry hair, Diastasis recti, Craniosynostosis, Limited wrist movement, Kyphosis, W... |
ORPHA:576 |
Chromosome 13Q14 Deletion Syndrome |
|
Frontal bossing, Overlapping toe, Single transverse palmar crease, Supernumerary nipple, Cryptorc... |
OMIM:613884 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Torticollis, Posteriorly rotated ears, Spina bifida, Patent ductus arteriosus, Cupped ear, Unilat... |
OMIM:619480 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Umbilical hernia, Camptodactyly of finger |
ORPHA:920 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Hallux valgus, Frontal bossing, Anterior pituitary hypoplasia, Kyphoscoliosis, Supernumerary nipp... |
ORPHA:466791 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Kyphosis, Pigmentary retinopathy, Scoliosis, Camptodacty... |
ORPHA:88628 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Tracheomalacia, Micrognathia, Small hand, Obesity, Fibular hypoplasia, ... |
ORPHA:444077 |
Osteogenesis Imperfecta, Type Xvii |
|
Dentinogenesis imperfecta |
OMIM:616507 |
Okamoto Syndrome |
|
Urinary incontinence, Bifid uterus, Hypertelorism, Extension of hair growth on temples to lateral... |
ORPHA:2729 |
Persistent Müllerian Duct Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism |
ORPHA:2856 |
Familial Glucocorticoid Deficiency |
|
Generalized hyperpigmentation, Anorexia, Renal salt wasting, Precocious puberty, Cryptorchidism, ... |
ORPHA:361 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Delayed closure of the anterio... |
ORPHA:2834 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Amelogenesis imperfecta |
OMIM:248190 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Arachnodactyly, Facial hypotonia, Kyphoscoliosis, Hypertelorism, Sparse eye... |
ORPHA:457359 |
Marfanoid Habitus With Situs Inversus |
|
Hyperextensibility of the finger joints, Scoliosis, Arachnodactyly, Kyphosis |
OMIM:609008 |
Barber-Say Syndrome |
|
Absent nipple, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Cryptorchidism, Hypoplastic labia... |
OMIM:209885 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Single transverse palmar crease, Bilateral cryptorchidism, Deeply set eye, Fragile nails, Vesicou... |
OMIM:150230 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hyperconvex fingernails, Sparse hair, Abnormal vertebral morphology, Abnormality of the nail, Abs... |
ORPHA:2273 |
Sotos Syndrome |
|
Ureteral duplication, Flexion contracture, Vesicoureteral reflux, Abnormal vertebral morphology, ... |
ORPHA:821 |
Oeis Complex |
|
Absence of the sacrum, Congenital hip dislocation, Hydroureter, Bifid uterus, Epispadias, Cryptor... |
OMIM:258040 |
Martin-Probst Syndrome |
|
Bifid scrotum, Renal insufficiency, Proteinuria, Hypertelorism, Cryptorchidism, Chordee, Hypoplas... |
OMIM:300519 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Calcaneal epiphyseal stippling, Hypoplasia of the maxilla, Abnormal ossification involving the fe... |
ORPHA:79345 |
Albinism-Deafness Syndrome |
|
Patchy hypo- and hyperpigmentation, Piebaldism, Partial albinism, Albinism |
OMIM:300700 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Barrel-shaped chest, Short humerus, Bowing of the long bones, Increased urine deoxypyridinoline l... |
OMIM:239000 |
Exstrophy-Epispadias Complex |
|
Omphalocele, Inguinal hernia, Cystocele, Abnormality of the abdominal wall, Abdominal wall defect... |
ORPHA:322 |
X Small Rings |
|
Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous syndactyly,... |
ORPHA:96201 |
Fraser Syndrome 3 |
|
Micrognathia, Short toe, Hydrocephalus, Cutaneous syndactyly, Stillbirth |
OMIM:617667 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Nar... |
OMIM:154500 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Submucous cleft soft palate, Cleft soft palate, Micrognathia |
ORPHA:2282 |
Congenital Ptosis |
|
Premature ovarian insufficiency, Congenital facial diplegia, Piebaldism, Increased muscle lipid c... |
ORPHA:91411 |
Arboleda-Tham Syndrome |
|
Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Cleft palate, Downturned corn... |
OMIM:616268 |
Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Craniofacioskeletal Syndrome |
|
Barrel-shaped chest, Absent gallbladder, Hypospadias, Cryptorchidism, Small hand, Short foot, Sho... |
OMIM:300712 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly |
ORPHA:1942 |
Vacterl With Hydrocephalus |
|
Microtia, third degree, Spina bifida, Aqueductal stenosis, Hydrocephalus, Anotia, Intrauterine gr... |
ORPHA:3412 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Sacral dimple, Toe syndactyly, Hypospadias, Single transverse palmar crease, Tapered finger, Doli... |
ORPHA:459070 |
Esophageal Atresia |
|
Omphalocele |
ORPHA:1199 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Hypertelorism, Aggressive behavior, Long fingers, Plagiocephaly, Talipes equinovarus, S... |
OMIM:613355 |
Genitopatellar Syndrome |
|
Small scrotum, Congenital hip dislocation, Knee flexion contracture, Micropenis, Short phalanx of... |
OMIM:606170 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Rib fusion |
OMIM:277300 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont... |
ORPHA:261537 |
Stickler Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Open... |
ORPHA:828 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Schwannoma, Ossifying fibroma, High palate, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcuta... |
ORPHA:363700 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Distal lower limb amyotrophy, Sydney crease, Sandal gap, Decreased response to gro... |
ORPHA:506358 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Genu recurvatum, Tapered finger, Short... |
OMIM:619539 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Anal stenosis, Micrognathia, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Cutan... |
OMIM:620029 |
Cardiac Diverticulum |
|
Omphalocele, Umbilical hernia, Abdominal wall defect, Diastasis recti |
ORPHA:1686 |
Pineoblastoma |
|
Retinoblastoma, Pinealoma |
ORPHA:251909 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Diastasis recti, Hypertelorism, Brachycephaly, Deeply set eye, Bicornua... |
OMIM:265380 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Microgna... |
OMIM:601803 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Distal amyotrophy, Flexion contracture, Scoliosis |
OMIM:609541 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis, Hypercalciuria |
ORPHA:2239 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology |
ORPHA:93941 |
Mosaic Trisomy 16 |
|
Syndactyly, Single transverse palmar crease, Short thumb, Clinodactyly, Large placenta, Anteriorl... |
ORPHA:1708 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Deeah Syndrome |
|
Cervical hemivertebrae, Decreased response to growth hormone stimulation test, Anterior pituitary... |
OMIM:619004 |
Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Congenital contracture, Flexion contracture, Thin ribs |
OMIM:615368 |
Meier-Gorlin Syndrome 4 |
|
Cryptorchidism, Patellar aplasia, Slender long bone, Breast hypoplasia |
OMIM:613804 |
Osteogenesis Imperfecta, Type Xv |
|
Thin ribs |
OMIM:615220 |
Meier-Gorlin Syndrome 6 |
|
Frontal bossing, Sandal gap, Decreased response to growth hormone stimulation test, Cryptorchidis... |
OMIM:616835 |
Pituitary Stalk Interruption Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Primary amenorrhea, Ectopic posterior pituitary |
ORPHA:95496 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Flexion contracture, Thin ribs |
OMIM:614833 |
Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the panc... |
ORPHA:2470 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Kyphosis, Elbow flexion contracture, Genu valgum, Scoliosis, Finger joint hyperm... |
OMIM:618493 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Dysphagia |
OMIM:211530 |
Fraser Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Small scrotum, Hypospadias, Toe syndactyly, Multicystic k... |
ORPHA:2052 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnor... |
ORPHA:90674 |
Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Abnormality of hair pigmentation, Hip dysplasia, Abnormal epiphysi... |
ORPHA:90354 |
Frontofacionasal Dysplasia |
|
Cleft upper lip, Orofacial cleft, Malar flattening, Bifid uvula, Hypoplasia of the frontal bone |
OMIM:229400 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad eyebrow, Hypospadias, Short neck, Sparse eyebrow, Cryptorchidism, Hypoplastic labia minora,... |
ORPHA:495875 |
Noonan Syndrome 3 |
|
Frontal bossing, Sagittal craniosynostosis, Hypertelorism, Pectus excavatum, Cryptorchidism, Scap... |
OMIM:609942 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, Talipes equinovarus, Cleft soft palate |
OMIM:614557 |
Mucopolysaccharidosis, Type Iiia |
|
Umbilical hernia, Thickened ribs |
OMIM:252900 |
Waardenburg Syndrome, Type 1 |
|
Congenital sensorineural hearing impairment, Myelomeningocele, Spina bifida |
OMIM:193500 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Thin vermilion border, High palate, Polydactyly, Retrognathia |
OMIM:619869 |
Beckwith-Wiedemann Syndrome |
|
Overgrowth of external genitalia, Diastasis recti, Cryptorchidism, Pancreatic hyperplasia, Nephro... |
OMIM:130650 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont... |
ORPHA:2152 |
Lathosterolosis |
|
Intrauterine growth retardation, Meningocele, Hearing impairment |
ORPHA:46059 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Macroglossia, Kyphosis, Abnormal repetitive mannerisms, Scoliosis |
ORPHA:261144 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont... |
ORPHA:261552 |
Charge Syndrome |
|
Bifid scrotum, Abnormal tibia morphology, Hemivertebrae, Compulsive behaviors, Vesicoureteral ref... |
ORPHA:138 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Omphalocele |
ORPHA:3164 |
Postencephalitic Parkinsonism |
|
Camptocormia, Kyphosis, Depression, Dysphagia, Abnormal aggressive, impulsive or violent behavior |
ORPHA:97349 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Triphalangeal thum... |
ORPHA:857 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele |
ORPHA:3186 |
Omodysplasia 1 |
|
Short humerus, Frontal bossing, Rhizomelia, Increased fibular diameter, Short neck, Cryptorchidis... |
OMIM:258315 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... |
ORPHA:2369 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pectus excavatum, Proximal renal tubular acidosis, Nephrolithiasis, Brachycephaly, Plagiocephaly,... |
ORPHA:2785 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Thin ribs, Disproportionate tall... |
OMIM:225400 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Large posterior fontanelle, Overweight, Delayed proximal femoral epiphyseal ossification, Macrogl... |
ORPHA:226307 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Frontal bossing, Hypogonadotropic hypogonadism, Hypospadias, Anterior pituitary... |
OMIM:206900 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Bowing of the long bones, Hydrocephalus, Abnormal rib morphology, Narr... |
ORPHA:667 |
Nail-Patella Syndrome |
|
Sensorineural hearing impairment, Spina bifida |
OMIM:161200 |
Holoprosencephaly 7 |
|
Omphalocele |
OMIM:610828 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Proteinuria, Kyphosis, Flexion c... |
OMIM:212065 |
Shprintzen Omphalocele Syndrome |
|
Omphalocele |
OMIM:182210 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuricosuria, Hypotelorism, Sp... |
OMIM:300661 |
Classic Homocystinuria |
|
Sparse scalp hair, Abnormality of retinal pigmentation, Arachnodactyly, Anorexia, Pectus excavatu... |
ORPHA:394 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Hypopituitarism, ... |
OMIM:300942 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Clinodactyly of the 5th finger, Retinoblastom... |
ORPHA:1587 |
Double Outlet Right Ventricle |
|
Submucous cleft hard palate, Intestinal malrotation, Cleft palate, Narrow mouth |
ORPHA:3426 |
Nmda Receptor Encephalitis |
|
Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of the lung, Neoplasm of the... |
ORPHA:217253 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Macroglossia, Malar flattening, Delayed cranial suture closure |
OMIM:613038 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Omphalocele, Camptodactyly |
OMIM:200110 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Absent eyebrow, Hypospadias, Hypertelorism, Absent eyelashes, Cr... |
OMIM:219000 |
Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Osteoporosis, Bilate... |
OMIM:301068 |
22Q11.2 Deletion Syndrome |
|
Aganglionic megacolon, Truncus arteriosus, Spina bifida, Short neck, Hydrocephalus, Meningocele, ... |
ORPHA:567 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Craniofacial hyperostosis, Avascular necrosis of the capital femora... |
ORPHA:581 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Menke-Hennekam Syndrome 1 |
|
Overlapping toe, Broad hallux, Sandal gap, Cryptorchidism, Flexion contracture, Cutaneous syndact... |
OMIM:618332 |
Timothy Syndrome |
|
Cutaneous syndactyly |
OMIM:601005 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, Cryptorchidism, 2-3 toe syndactyly, Coronal cleft vertebrae, Aplasia of the le... |
OMIM:620025 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hydrocephalus, Sensorineural hearing impairment, Patent ductus arteriosu... |
OMIM:164210 |
Glycerol Kinase Deficiency |
|
Frontal bossing, Increased urinary glycerol, Hypertelorism, Cryptorchidism, Myopathy, Muscular dy... |
OMIM:307030 |
Autosomal Recessive Ataxia, Beauce Type |
|
Skeletal muscle atrophy, Urinary incontinence, Kyphosis, Scoliosis, Lower limb muscle weakness |
ORPHA:88644 |
Knobloch Syndrome 1 |
|
Occipital encephalocele, Optic disc pallor, Patent ductus arteriosus, Peripapillary atrophy, Occi... |
OMIM:267750 |
Carney Complex |
|
Neoplasm of the stomach, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, ... |
ORPHA:1359 |
Arima Syndrome |
|
Occipital meningocele, Optic atrophy, Chorioretinal coloboma |
OMIM:243910 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Malabsor... |
ORPHA:2136 |
Williams Syndrome |
|
Hypoplasia of penis, Hypoplastic toenails, Abnormal form of the vertebral bodies, Nephrocalcinosi... |
ORPHA:904 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Micrognathia, Submucous cleft hard palate, Cleft palate, Solitary median maxill... |
OMIM:301043 |
Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Achilles tendon contracture, Elbow flex... |
OMIM:252940 |
Charge Syndrome |
|
External genital hypoplasia, Abnormal palmar dermatoglyphics, Decreased response to growth hormon... |
OMIM:214800 |
Atelis Syndrome 2 |
|
Frontal bossing, Sacral dimple, Single transverse palmar crease, Kyphosis, Attention deficit hype... |
OMIM:620185 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Malabsorption, Elbow dislocation, Abnormality of the dentition, Osteoarthritis... |
ORPHA:285 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Abnormality of the upper limb, Capillary hemangioma, Short low... |
ORPHA:1556 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs |
OMIM:252920 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Unilateral deafness, Meningocele |
ORPHA:1010 |
Alkaptonuria |
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Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephrolithiasis, T... |
OMIM:203500 |
Meacham Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Cryptorchidism, Hydrometrocolpos, Horseshoe... |
ORPHA:3097 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
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Ankle clonus, Talipes valgus, Submucous cleft hard palate, Flexion contracture |
OMIM:618891 |
Adult Syndrome |
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Finger syndactyly, Toe syndactyly, Split foot |
ORPHA:978 |
Bloom Syndrome |
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Male infertility, Premature ovarian insufficiency, Sparse eyelashes, Paronychia, Oligozoospermia,... |
ORPHA:125 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly |
OMIM:616430 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
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Submucous cleft hard palate, Bifid uvula |
OMIM:617660 |
Kabuki Syndrome 1 |
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Ureteropelvic junction obstruction, Crossed fused renal ectopia, Congenital hip dislocation, Prem... |
OMIM:147920 |
Dyskeratosis Congenita, X-Linked |
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Ridged nail, Split nail, Alopecia, Hypospadias, Sparse eyelashes, Phimosis, Reticulated skin pigm... |
OMIM:305000 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Absent eyebrow, Multicystic kidney dysplasia, Alopecia, Hypospadias, Sparse scalp hair, Unilatera... |
OMIM:308205 |
Osteopetrosis, Autosomal Recessive 7 |
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Multiple rib fractures, Hydrocephalus, Femur fracture |
OMIM:612301 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Precocious puberty, Cryptorchidism, Labial hypertrophy, Prominent occiput, Macroglossia, Shallow ... |
ORPHA:96191 |
Microphthalmia With Linear Skin Defects Syndrome |
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Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Micrognathia, Mandibular apla... |
ORPHA:2556 |
Microphthalmia, Syndromic 1 |
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Syndactyly, Lumbar hyperlordosis, Hypospadias, Abnormal palmar dermatoglyphics, Down-sloping shou... |
OMIM:309800 |
17Q12 Microdeletion Syndrome |
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Multicystic kidney dysplasia, Renal insufficiency, Cryptorchidism, Ureterocele, Shawl scrotum, Pa... |
ORPHA:261265 |
Semilobar Holoprosencephaly |
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Hydrocephalus, Sensorineural hearing impairment, Neural tube defect, Abnormality of the autonomic... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Hydrocephalus, Sensorineural hearing impairment, Neural tube defect, Abnormality of the autonomic... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Hydrocephalus, Sensorineural hearing impairment, Neural tube defect, Abnormality of the autonomic... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Hydrocephalus, Sensorineural hearing impairment, Neural tube defect, Abnormality of the autonomic... |
ORPHA:93924 |
Diets-Jongmans Syndrome |
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Hypospadias, Congenital diaphragmatic hernia, Aggressive behavior, Cryptorchidism, Hip dysplasia,... |
OMIM:618846 |
Pseudo-Torch Syndrome 2 |
|
Thin ribs |
OMIM:617397 |
Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspondyly... |
OMIM:259770 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs |
OMIM:252930 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
Craniotubular Dysplasia, Ikegawa Type |
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Metaphyseal dysplasia, Broad ischia, Diaphyseal dysplasia, Short palm, Broad ribs, 3-4 finger syn... |
OMIM:619727 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Genu recurvatum, Hip dislocation, Talipes equinovarus, Small bowel dive... |
ORPHA:90348 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Broad ribs, Flaring of rib cage |
OMIM:612852 |
Pelizaeus-Merzbacher Disease |
|
Kyphosis, Scoliosis |
ORPHA:702 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Finger syndactyly, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly, Bi... |
OMIM:181270 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Syndactyly |
OMIM:224120 |
Alagille Syndrome 1 |
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Hypoplasia of the ulna, Multiple small medullary renal cysts, Abnormal rib morphology, Papillary ... |
OMIM:118450 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Dolichoceph... |
ORPHA:558 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Cog1-Cdg |
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Rhizomelia, Coxa valga, Micrognathia, Rib fusion, Posterior rib gap, Flat acetabular roof, Short ... |
ORPHA:263508 |
Gaucher Disease Type 1 |
|
Proteinuria, Anorexia, Kyphosis, Hematuria, Vertebral compression fracture |
ORPHA:77259 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Ganglioneuroma, Obesity, Ganglioneuroblastoma, Brachydactyly |
ORPHA:293987 |
Pontine Tegmental Cap Dysplasia |
|
Rib fusion, Facial palsy |
OMIM:614688 |
Singleton-Merten Syndrome 1 |
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Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Short denta... |
OMIM:182250 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Rib fusion, Short ribs, Missing ribs, Thin ribs |
OMIM:271520 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Cryptorchidism, 2-3 to... |
OMIM:618280 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Absent outer dynein arms |
OMIM:244400 |
Triosephosphate Isomerase Deficiency |
|
Kyphosis, Cholelithiasis, Myopathy, Skeletal muscle atrophy |
OMIM:615512 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Camptodactyly of finger, Flexion contracture, Temporomandibular joint ankylosis, ... |
ORPHA:217085 |
Pontocerebellar Hypoplasia Type 7 |
|
Skeletal muscle atrophy, Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphal... |
ORPHA:284339 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Thickened ribs, Camptodactyly of finger, Flexion contracture, Temporomandibular joint ankylosis, ... |
ORPHA:217093 |
Ramon Syndrome |
|
Enlarged labia minora, Kyphosis, Pigmentary retinopathy, Scoliosis, Hypertrichosis |
OMIM:266270 |
Alström Syndrome |
|
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Urinary incontinence, ... |
ORPHA:64 |
Norrie Disease |
|
Cryptorchidism, Hypotelorism, Deeply set eye, Irritability, Self-injurious behavior, Uterine rupt... |
ORPHA:649 |
Coccidioidomycosis |
|
Hydrocephalus, Abnormal long bone morphology, Abnormal metacarpal morphology, Broad ribs, Broad m... |
ORPHA:228123 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Cryptorchidism, Bilateral renal hypoplasia, Unilateral renal... |
ORPHA:49 |
Proximal Renal Tubular Acidosis |
|
Enamel hypomineralization |
ORPHA:47159 |
Holoprosencephaly 2 |
|
Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary ... |
OMIM:157170 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Syndactyly, Renal insufficiency, Frontal bossing, Anterior pituitary hypoplasia, Post... |
OMIM:619534 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pectus excavatum, Cryptorchidism, Cystocele, Foot acroosteolysis, Cervical insufficiency, Osteoly... |
OMIM:130050 |
Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Congenital diaphragmatic hernia, Rib fusion, Cone-shaped epiphysis, Short foot... |
OMIM:157800 |
Johanson-Blizzard Syndrome |
|
Sparse scalp hair, Hypospadias, Single transverse palmar crease, Urethrovaginal fistula, Septate ... |
OMIM:243800 |
Fraser Syndrome 2 |
|
Rectal atresia, Intestinal malrotation, Anal atresia, Cutaneous syndactyly |
OMIM:617666 |
Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Congenital hip dislocation, Hypospadias, Abnormality of hair texture, Pectus excavatum,... |
ORPHA:286 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Urinary incontinence, Kyphosis, Enuresis nocturna, Pollakisuria, Lower limb hypertonia, Foot dors... |
ORPHA:171629 |
Lymphedema-Distichiasis Syndrome |
|
Yellow nails, Kyphosis, Distichiasis |
OMIM:153400 |
Microform Holoprosencephaly |
|
Tented upper lip vermilion, Orofacial cleft, Cleft palate, Short philtrum, Solitary median maxill... |
ORPHA:280200 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ... |
OMIM:235730 |
Cystic Fibrosis |
|
Male infertility, Clubbing of fingers, Hypercalciuria |
OMIM:219700 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly |
OMIM:601374 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Urinary incontinence, Scoliosis, Dysphagia |
OMIM:619482 |