| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
| Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
| Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
| Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate |
OMIM:172880 |
| Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... |
OMIM:311895 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d... |
ORPHA:968 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal fibula ... |
ORPHA:1836 |
| Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... |
OMIM:186570 |
| Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
| Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elb... |
ORPHA:2633 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
| Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... |
OMIM:612961 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Cleft palate, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morph... |
ORPHA:294975 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
| Dysplasia Epiphysealis Hemimelica |
|
Pes planus, Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiff... |
ORPHA:1822 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... |
OMIM:610017 |
| Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
| Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... |
ORPHA:957 |
| Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Aplasia/Hypoplasi... |
ORPHA:141152 |
| Talonavicular Coalition |
|
Coalescence of tarsal bones, Short hallux, Proximal/middle symphalangism of 5th finger, Abnormali... |
OMIM:186750 |
| Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
| Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
| Jackson-Weiss Syndrome |
|
Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2... |
OMIM:123150 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... |
DECIPHER:46 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal ... |
OMIM:609441 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
| Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
| Nievergelt Syndrome |
|
Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar... |
OMIM:163400 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly, Male hypogonadism, Azoospermia |
OMIM:241000 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
| Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Tarsal synostosis, Joint stiffness, Short neck, Adducted thumb, Uln... |
ORPHA:1147 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
| Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
| Sprengel Deformity |
|
Abnormal shoulder morphology, Shoulder muscle hypoplasia, Cleft palate, Abnormality of the should... |
ORPHA:3181 |
| Symphalangism, Proximal, 1A |
|
Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy... |
OMIM:185800 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Split hand, Toe syndactyly, Cleft palate, Split foot |
OMIM:183700 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capi... |
OMIM:147891 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... |
ORPHA:3104 |
| Synostoses, Tarsal, Carpal, And Digital |
|
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:186400 |
| Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Perching Syndrome |
|
Respiratory distress, Cyanosis, High palate, Camptodactyly |
OMIM:617055 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
| Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
| Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
| Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
| Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
| Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Cryptorchidism, Abnormal femur morphology, Abnormal form of... |
ORPHA:3429 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Postaxial hand p... |
ORPHA:2935 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Respiratory distress, Dental crowding, Posteriorly rotated e... |
OMIM:614669 |
| Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... |
OMIM:601952 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal radio-ulnar synostosis, Brachydactyly, Duplication of thumb phalanx, Short hallux, Tibia... |
ORPHA:363417 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, Selective tooth agenesis, 1-4 finger syndactyly, Split hand, 2-3 finger sy... |
OMIM:225280 |
| Humero-Radial Synostosis |
|
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Meningocele, Limitation of... |
ORPHA:3265 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Autoamputation of digits, Parakeratosis, Flexion contracture, Periorifi... |
OMIM:614594 |
| Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le... |
OMIM:249710 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short neck, Short ... |
ORPHA:2756 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... |
OMIM:605282 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
| Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the hand, Abnormal foot morphology, Osteoarthritis, Osteolysis,... |
ORPHA:1657 |
| Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin, Restricted chest movement, Tapered finger |
ORPHA:2812 |
| Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication |
OMIM:223200 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Parakeratosis, Congenital hip dislocation, Single transverse palmar crease... |
OMIM:308050 |
| Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Metaphyseal widening, Delayed epiphyseal ossification... |
ORPHA:750 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
| Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Cleft palate, High palate, Clinodacty... |
ORPHA:376 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:617574 |
| Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
| Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Autoamputation of digits, Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratosi... |
ORPHA:79503 |
| Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyperkeratosi... |
ORPHA:79395 |
| Tarsal-Carpal Coalition Syndrome |
|
Abnormality of the ankle, Tarsal synostosis |
ORPHA:1412 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Posteriorly rotated ears, Micrognathia, Dyspnea, Gingival fibromatosis, Gin... |
ORPHA:1832 |
| Symphalangism, Distal |
|
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis... |
OMIM:185700 |
| Bathing Suit Ichthyosis |
|
Autoamputation of digits, Multiple joint contractures, Parakeratosis, Thickened skin, Palmoplanta... |
ORPHA:100976 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
| Neuralgic Amyotrophy |
|
Scapular winging, Respiratory insufficiency, Cleft palate, Narrow mouth, Acrocyanosis |
ORPHA:2901 |
| Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Vertebral fusion, Hip contracture, Tarsal synostosis, Elbow contracture, Multiple pterygia, Crani... |
OMIM:178110 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Accelerated skeletal maturation, Abnormal hand morphology, Metaphyseal widenin... |
ORPHA:93307 |
| Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
| Chromosome 2Q31.1 Duplication Syndrome |
|
Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb |
OMIM:613681 |
| Microphthalmia With Limb Anomalies |
|
Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig... |
ORPHA:1106 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Camptodactyly of finger, Facial palsy, Abnormal motor nerve conduction velo... |
OMIM:614399 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Delayed skeletal maturation, Abnormality of the elbow, Radioulnar synostosis, ... |
ORPHA:3268 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta... |
OMIM:300918 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o... |
ORPHA:2669 |
| Epidermolytic Palmoplantar Keratoderma |
|
Interphalangeal joint contracture of finger, Hypergranulosis, Epidermal hyperkeratosis, Diffuse p... |
ORPHA:2199 |
| Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Palmoplantar blistering, Hyperkeratosis |
OMIM:131800 |
| Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Carpal synostosis, Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis |
ORPHA:2010 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis, Joint stiffness |
OMIM:617756 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
| Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Bifid distal phalanx of the thumb, Short distal phalanx of hallux, Partial duplication of the dis... |
OMIM:256200 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
| Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... |
OMIM:305620 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
| Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... |
OMIM:619110 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperhidrosis, Palmoplantar hyperker... |
OMIM:615598 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Short neck, Palmoplantar keratoderma, Follicular hyperkeratosis, Finger joint hype... |
OMIM:615225 |
| Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
| Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
| Moebius Syndrome |
|
Decreased testicular size, Syndactyly, Brachydactyly, Respiratory distress, Abnormal pinna morpho... |
OMIM:157900 |
| Multiple Synostoses Syndrome 4 |
|
Pes planus, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly |
OMIM:617898 |
| Holzgreve Syndrome |
|
Hand polydactyly, Cleft palate, Cleft upper lip |
OMIM:236110 |
| Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis |
OMIM:101900 |
| Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Cryptorchidism, ... |
ORPHA:1307 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... |
OMIM:603543 |
| Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Flexion contracture, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythro... |
OMIM:242300 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... |
OMIM:600384 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Pes planus, Short metacarpal, Epiphyseal dysplasia, Ovoid vertebral bodies, Joint stiffness, Avas... |
OMIM:132400 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
| Charlie M Syndrome |
|
Finger syndactyly, Narrow mouth, Non-midline cleft lip, Split hand, Tooth agenesis, Thin vermilio... |
ORPHA:1406 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... |
OMIM:272460 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Micrognathia, Wide mouth, Widely spaced teeth, Clinodactyly, Macrotia |
OMIM:300934 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma |
OMIM:244850 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Joint hyperflexibility |
ORPHA:238446 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly |
OMIM:615938 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
| Bardet-Biedl Syndrome 5 |
|
Hypogonadism, Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress, Micrognathia, Asplenia, Upper airway obstruction, High palate, Hypodontia, ... |
OMIM:612776 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Miscarriage, Female infertility |
OMIM:619176 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Abnormal vertebra... |
ORPHA:95699 |
| 2q33.1 deletion syndrome |
|
High palate, Cleft palate |
DECIPHER:51 |
| Neuropathy, Hereditary Sensory, Type If |
|
Hallux valgus, Osteomyelitis, Neuropathic arthropathy, Osteolytic defects of the phalanges of the... |
OMIM:615632 |
| Olmsted Syndrome 2 |
|
Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar... |
OMIM:619208 |
| Muenke Syndrome |
|
Tarsal synostosis, Short foot, Cone-shaped epiphysis, Short palm, Carpal synostosis, Coronal cran... |
ORPHA:53271 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis, Kyphoscoliosis |
OMIM:618339 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious... |
OMIM:617102 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis, Short finger, Tapered finger |
OMIM:302000 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
| Symphalangism Of Toes |
|
Synostosis involving bones of the toes |
OMIM:185600 |
| Aquagenic Palmoplantar Keratoderma |
|
Abnormal phalangeal joint morphology of the hand, Orthokeratotic hyperkeratosis, Palmoplantar ker... |
ORPHA:498359 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bifid uvula, Cleft palate |
OMIM:258320 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... |
OMIM:612281 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... |
ORPHA:166016 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... |
OMIM:616331 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Palmar hyperlinearity, Palmoplantar keratoderma, Congenital nonbullous ichthyosifo... |
OMIM:604777 |
| Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition... |
OMIM:216300 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
| Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
| Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Broad hallux, Cleft soft... |
OMIM:620107 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft palate, Cleft upper lip |
OMIM:179400 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Short foot, Abnormal hand morphology, Small hand, Cleft palate |
OMIM:300261 |
| Anonychia With Flexural Pigmentation |
|
Abnormality of the plantar skin of foot, Abnormal skin morphology of the palm, Hyperkeratosis, Fo... |
ORPHA:69125 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh... |
OMIM:300244 |
| Tarsal Coalition |
|
Tarsal synostosis |
OMIM:186850 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia |
OMIM:300484 |
| Wt Limb-Blood Syndrome |
|
Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Sensori... |
OMIM:194350 |
| Bazex Syndrome |
|
Acanthosis nigricans, Hyperkeratosis, Parakeratosis, Palmoplantar keratoderma |
ORPHA:166113 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Facial palsy, Triceps weakness, Weakness of long fin... |
ORPHA:98913 |
| Mesomelia-Synostoses Syndrome |
|
Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of the 5th finger,... |
ORPHA:2496 |
| Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
| Ichthyosis, Annular Epidermolytic, 1 |
|
Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital bullous ichthyosiform ery... |
OMIM:607602 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th... |
ORPHA:2631 |
| Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Posteriorly rotated ears,... |
OMIM:600325 |
| Thiemann Disease |
|
Avascular necrosis, Broad phalanx, Short phalanx of finger |
OMIM:165700 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
| Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Micrognathia, Asthma, Tachypnea, Pneumothorax, Pa... |
ORPHA:2257 |
| Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
| Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Metaphyseal widening, Delayed epiphyseal ossification, Os... |
OMIM:177170 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Hyperkeratosis, Parakeratosis, Palmoplantar keratoderma, Ichthyosis |
OMIM:615821 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short... |
ORPHA:90652 |
| Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
| Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Enlarged joints, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly... |
ORPHA:166024 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... |
OMIM:619751 |
| Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Intestinal malrotation, Posteriorly rotated ears, Micrognathia, Carious... |
OMIM:613684 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Cleft soft palate, Sandal gap, Micrognathia, Abnormality of the dentition, Posterio... |
OMIM:618529 |
| Acrorenal Syndrome |
|
Abnormal morphology of ulna, Abnormal tibia morphology, Split hand, Cleft palate, Aplasia/Hypopla... |
ORPHA:971 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, C... |
ORPHA:93316 |
| Microphthalmia With Limb Anomalies |
|
Sacral dimple, Toe syndactyly, Sandal gap, Single transverse palmar crease, Unilateral cryptorchi... |
OMIM:206920 |
| Coloboma Of Macula And Skeletal Anomalies |
|
Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5... |
OMIM:216800 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
| Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:79151 |
| Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Respiratory distress, Short metacarpal, Brachydactyly, Death in infanc... |
OMIM:184260 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Abnormal foot morphology, Preaxial polydactyly, ... |
ORPHA:64754 |
| Aase-Smith Syndrome |
|
Camptodactyly of finger, Cleft palate, Aplasia/Hypoplasia of the radius, Talipes equinovarus, Abn... |
ORPHA:916 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
|
Long toe, Arachnodactyly, Cleft lip, Cleft palate, Large hands |
OMIM:300263 |
| Acromicric Dysplasia |
|
Short metacarpal, Ovoid vertebral bodies, Thickened skin, Delayed skeletal maturation, Short foot... |
OMIM:102370 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Mixed hearing impairment, Macrocytic anemia, Posteriorly rotated ears, Micr... |
OMIM:606164 |
| Immunodeficiency 104 |
|
Pneumonia, Splenomegaly, Oral ulcer, Lymphadenopathy, T lymphocytopenia, Otitis media, Recurrent ... |
OMIM:608971 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal ... |
ORPHA:93351 |
| Odontochondrodysplasia |
|
Delayed eruption of teeth, Respiratory distress, Bowing of the long bones, Death in infancy, Micr... |
ORPHA:166272 |
| Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175900 |
| Mesomelia-Synostoses Syndrome |
|
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Narrow foo... |
OMIM:600383 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Short thum... |
OMIM:227270 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Palmoplantar blistering, Neonatal death |
OMIM:226735 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Abnormality of the knee, Parakeratosis, Palmoplantar hyperkeratosis |
ORPHA:158681 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod... |
OMIM:609638 |
| Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... |
ORPHA:2919 |
| Cleft Velum |
|
Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency, Recurrent otitis medi... |
ORPHA:99772 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... |
OMIM:271650 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Arachnodactyly, Abnormality of the philtrum, Aplasia/Hypoplasia of the tong... |
ORPHA:2759 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Micrognathia, High, narrow palate, Splenomegaly, Small hand, Upper limb und... |
OMIM:608799 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota... |
ORPHA:93259 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Cyanosis, Single transverse palmar crease, Micrognathia, Cryptorchidism... |
ORPHA:3304 |
| Congenital Vertical Talus |
|
Pes planus, Rocker bottom foot, Equinus calcaneus, Lower extremity joint dislocation, Myelomening... |
ORPHA:178382 |
| Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Uplifted earlobe, Esophageal atresia, Small hand, Downturned corners of mouth,... |
OMIM:618779 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod... |
OMIM:602418 |
| Monosomy 5P |
|
Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Small hand, High palate |
ORPHA:281 |
| Premature Ovarian Failure 2B |
|
Primary amenorrhea, Premature ovarian insufficiency, Osteoporosis, Female infertility |
OMIM:300604 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Thin upper lip vermilion, Neonatal respiratory distress, Death in infancy, ... |
OMIM:615042 |
| Eiken Syndrome |
|
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
| Orofaciodigital Syndrome Type 2 |
|
Apnea, Micrognathia, Tachypnea, Protruding ear, Finger clinodactyly, High palate, Conductive hear... |
ORPHA:2751 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Thin upper lip vermilion, Abnormal pinna morphology, Perianal abscess, Cryptorchidism, Small hand... |
OMIM:614684 |
| Auriculocondylar Syndrome |
|
Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, M... |
ORPHA:137888 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
| Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Tracheomalacia, Del... |
OMIM:156550 |
| 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 |
| Arthrogryposis, Distal, Type 1A |
|
Congenital hip dislocation, Single transverse palmar crease, Calcaneovalgus deformity, Knee flexi... |
OMIM:108120 |
| Tarp Syndrome |
|
Extramedullary hematopoiesis, Apnea, Single transverse palmar crease, Micrognathia, Glossoptosis,... |
ORPHA:2886 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Micromelia, Micrognathia, Macroglossia, Short long bone, Flared elbow metap... |
ORPHA:1423 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
| 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 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform... |
OMIM:613576 |
| Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... |
ORPHA:2712 |
| Congenital Velopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Abnormal palate morphology, Hearing impairment |
ORPHA:2291 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis |
OMIM:618531 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Arachnodactyly, Camptoda... |
ORPHA:2994 |
| Parc Syndrome |
|
Cleft palate |
OMIM:600331 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger, Short thumb, Protruding e... |
ORPHA:2251 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha... |
ORPHA:370010 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... |
ORPHA:1275 |
| Isolated Osteopoikilosis |
|
Syndactyly, Increased bone mineral density, Abnormally ossified vertebrae, Abnormal pelvis bone m... |
ORPHA:166119 |
| Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
| Bardet-Biedl Syndrome 16 |
|
Recurrent otitis media, Polydactyly, Respiratory distress, Hearing impairment |
OMIM:615993 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
| Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Kyphoscoliosis, Cryptorchidism, ... |
ORPHA:65759 |
| 2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... |
ORPHA:1617 |
| Keratoderma Hereditarium Mutilans |
|
Autoamputation of digits, Hypogonadotropic hypogonadism, Osteolysis, Honeycomb palmoplantar hyper... |
ORPHA:494 |
| Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:3201 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali... |
ORPHA:2141 |
| Facial Clefting, Oblique, 1 |
|
Deep palmar crease, Cleft palate, Cleft upper lip |
OMIM:600251 |
| Distal Deletion 17Q |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, ... |
ORPHA:1597 |
| Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Accelerated skeletal maturation |
ORPHA:2297 |
| Chromosome 22Q11.2 Duplication Syndrome |
|
Abnormal pinna morphology, Micrognathia, Velopharyngeal insufficiency, High palate, Low-set ears |
OMIM:608363 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Hyperkeratosis, Sclerodactyly, Camptodactyly of finger, Palmoplantar hyperkeratosis |
OMIM:212360 |
| White Sponge Nevus 2 |
|
Hyperparakeratosis |
OMIM:615785 |
| Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly |
ORPHA:2266 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Leukocytosis, Vertigo, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
| Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... |
OMIM:609166 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Cleft palate... |
OMIM:258860 |
| Postaxial Acrofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... |
ORPHA:246 |
| Porokeratosis Of Mibelli |
|
Hyperkeratosis, Porokeratosis |
ORPHA:735 |
| Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t... |
ORPHA:90650 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Death in infancy, Rhizomelia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, M... |
ORPHA:163966 |
| Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Lymphopenia, Recurrent viral pneumonia |
OMIM:619773 |
| Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Submucous cleft hard palate, Finger joint hypermobility, Recurrent otitis me... |
OMIM:601492 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Arthrogryposis, Distal, Type 11 |
|
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... |
OMIM:620019 |
| Summitt Syndrome |
|
Syndactyly, Craniosynostosis |
OMIM:272350 |
| Weaver Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Sandal gap, Camptodactyly of finger, Microg... |
ORPHA:3447 |
| Methemoglobinemia, Beta Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617973 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Neutrophilia, Cyanosis, Crackles, Nonproductive cou... |
ORPHA:1302 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Cleft palate, Everted lower lip ... |
OMIM:619736 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Cleft upper lip, Abnormality of the ear, Cleft palate, Palmoplantar ... |
OMIM:225060 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Tetrasomy 5P |
|
Respiratory distress, Cyanosis, Overlapping toe, Posteriorly rotated ears, Short hallux, Microgna... |
ORPHA:3309 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Azoospermia, Infertility, Scoliosi... |
ORPHA:1445 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota... |
ORPHA:93260 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly, Craniosynostosis |
ORPHA:1527 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe, Limited elbo... |
OMIM:614078 |
| 8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Underfolded helix, Abnormality of the den... |
ORPHA:178303 |
| Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi... |
OMIM:114300 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Arachnodactyly, Micrognathia, High, narrow palate, Dyspnea, Optic atrophy, ... |
ORPHA:2707 |
| Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Short palm, Finger syndactyly, Low-set, posteriorly rotated ears, Sing... |
ORPHA:915 |
| Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis |
OMIM:602723 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly, Death in infancy, Carious teeth, Pyloric stenosis, Enamel hypoplasia |
OMIM:226700 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Cutaneous fing... |
OMIM:224690 |
| Schilbach-Rott Syndrome |
|
Posteriorly rotated ears, Micrognathia, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate... |
OMIM:164220 |
| Buratti-Harel Syndrome |
|
Broad hallux, Posteriorly rotated ears, Cryptorchidism, Velopharyngeal insufficiency, Submucous c... |
OMIM:619314 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal jo... |
ORPHA:1145 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Macrodactyly, 2-4 toe syndactyly, Hyperparakeratosis, Hydrocele testis, Foot polydactyly, Scoliosis |
ORPHA:276280 |
| Chromomycosis |
|
Abnormal foot morphology, Ankylosis, Abnormality of the lower limb, Hyperparakeratosis, Osteolysi... |
ORPHA:182 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the dentition, Polydactyly, Brachydactyly |
OMIM:615982 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy... |
ORPHA:1856 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Low-set, posteriorly rotated ears, Small hypothenar eminence, Contracture of the proximal interph... |
ORPHA:2872 |
| Acrootoocular Syndrome |
|
Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, Decreased response to gro... |
ORPHA:2980 |
| Eem Syndrome |
|
Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Ectrodact... |
ORPHA:1897 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617526 |
| Braddock-Carey Syndrome 2 |
|
Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory canal, Clinodac... |
OMIM:619981 |
| Smith-Mccort Dysplasia 2 |
|
Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Short neck, Br... |
OMIM:615222 |
| Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Accelerated skeletal m... |
ORPHA:380 |
| Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Mediastinal lymphadenopathy, Non... |
ORPHA:2302 |
| Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Proximal placement of thumb, Micrognathia, Esophageal atresia, Deep philtru... |
OMIM:610536 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... |
OMIM:606895 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Single transverse palmar crease, Conductive hearing impairment, Supernumerary tooth, Submucous cl... |
OMIM:617412 |
| Hemifacial Microsomia With Radial Defects |
|
Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Triphalangeal thumb,... |
OMIM:141400 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Narrow pelvis bone, Myelomeningocele, Cleft palate |
ORPHA:66637 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Syndactyly, Brachydactyly, Stapes ankylosis, Intestinal malrotation, Si... |
OMIM:614701 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Clino... |
ORPHA:2554 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Short metacarpal, Prominent superficial veins, Camptodactyly of finger... |
OMIM:612350 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Short palm, Thin upper lip vermilion, Short metacarpal, Dental crowding, Avascular necrosis of th... |
OMIM:190351 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
| Cree Mental Retardation Syndrome |
|
Posteriorly rotated ears, Rocker bottom foot, Cleft soft palate, Micrognathia, Cryptorchidism, Cu... |
OMIM:606851 |
| Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Abnormal form of... |
ORPHA:83468 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Facial palsy, Micrognathia, Respiratory insufficiency due to muscle weaknes... |
OMIM:300580 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Joint stiffness, Kyphosis, Abnormality of the elbow, Hip dislocation, Hyperker... |
ORPHA:1005 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Diffuse palmoplantar hyperkeratosis, Acrocyanosis |
ORPHA:86918 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Sensorineural hearing impairment, Cleft palate, Hydrocele testis, Radioulnar sy... |
OMIM:616738 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... |
ORPHA:2521 |
| Vulvovaginal Gingival Syndrome |
|
Parakeratosis |
ORPHA:83453 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Syndactyly, Neonatal respiratory distress, Abnormal pinna morphology, Proxi... |
OMIM:217980 |
| Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Finger syndactyly, Facial palsy, Sensorineural hearing impairment, 2-3... |
ORPHA:3152 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Brachydactyly, Hearing impairment, Thick lower lip vermilion, Hip dislocation, Deep p... |
OMIM:619451 |
| Hydrolethalus |
|
Low-set, posteriorly rotated ears, Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polyd... |
ORPHA:2189 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Acanthosis nigricans, Hyperkeratosis, Parakeratosis, Ichthyosis |
OMIM:618527 |
| Steel Syndrome |
|
Carpal synostosis, Pes planus, Lumbar hyperlordosis, Hip dislocation, Coxa vara, Scoliosis, Clino... |
OMIM:615155 |
| Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Lateral hum... |
ORPHA:2741 |
| Orofaciodigital Syndrome Xi |
|
Cleft palate, Postaxial polydactyly |
OMIM:612913 |
| Tularemia |
|
Respiratory distress, Brain abscess, Pneumonia, Mediastinal lymphadenopathy, Leukocytosis, Cervic... |
ORPHA:3392 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to... |
ORPHA:989 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Protruding ear, High palate... |
OMIM:268305 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Tibial torsion, Micrognathia, Absent radius... |
ORPHA:3320 |
| Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
| Cri-Du-Chat Syndrome |
|
Single transverse palmar crease, Short metatarsal, Orofacial cleft, Downturned corners of mouth, ... |
OMIM:123450 |
| Hypotrichosis Simplex Of The Scalp |
|
Hyperkeratosis, Parakeratosis |
ORPHA:90368 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Distal Symphalangism |
|
Joint stiffness, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Syno... |
ORPHA:3248 |
| Stickler Syndrome, Type Ii |
|
Arachnodactyly, Micrognathia, High, narrow palate, Long fingers, Pierre-Robin sequence, Sensorine... |
OMIM:604841 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Respiratory distress, Rocker bottom foot, Low-set ears, Hypoplastic spleen, Ad... |
ORPHA:89844 |
| Atelosteogenesis, Type Ii |
|
Death in infancy, Sandal gap, Micromelia, Bifid humerus, Flat acetabular roof, Short greater scia... |
OMIM:256050 |
| Peeling Skin Syndrome 6 |
|
Orthokeratosis, Parakeratosis |
OMIM:618084 |
| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia, Micrognathia, Conductive hearing impairment, Aglossia, Clef... |
OMIM:202650 |
| Catifa Syndrome |
|
Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Camptodactyly, Tooth malp... |
OMIM:618761 |
| Banki Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... |
ORPHA:1228 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Kyphosis, Hyperkeratosis, Joint contracture of the 5th f... |
ORPHA:1883 |
| Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2n... |
OMIM:617201 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Micrognathia, Split hand, Cleft palate, Abnormal antihelix morphol... |
ORPHA:2145 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Deep philtrum, Sensori... |
ORPHA:1825 |
| Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Tarsal synostosis, Cryptorchidism, Postaxial hand polydactyly, Postaxial foot ... |
ORPHA:2473 |
| Meier-Gorlin Syndrome 5 |
|
Small earlobe, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Irregular femoral epip... |
OMIM:613805 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Tapered finger, Long fingers, Thick lower lip vermilion, Prominent antihelix, Acrocyanosis, Joint... |
OMIM:614407 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Apnea, Micrognathia, Deep phil... |
ORPHA:314655 |
| Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Macroglossia, High pala... |
ORPHA:254864 |
| Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, External ear malformation, Cryptorchidism, Non-midline cleft lip, Optic atroph... |
ORPHA:1252 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, High palate, Talipes equinovarus |
OMIM:620011 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Limited elbow movement, Pierre-Robin sequence, Hip dislocation, Cleft palat... |
OMIM:183900 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| 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 15 |
|
Female infertility |
OMIM:616814 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Linear Verrucous Nevus Syndrome |
|
Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Reduced bone mineral density, Hyperke... |
ORPHA:2611 |
| Filippi Syndrome |
|
Single transverse palmar crease, 2-4 toe syndactyly, Cryptorchidism, Optic atrophy, Cutaneous syn... |
OMIM:272440 |
| Waardenburg Syndrome Type 3 |
|
Tented upper lip vermilion, Camptodactyly of finger, Hearing impairment, Abnormal finger morpholo... |
ORPHA:896 |
| Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Overfolded helix, Submucous cleft hard palate |
ORPHA:209908 |
| Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
| Osteoglophonic Dysplasia |
|
Mandibular prognathia, Respiratory distress, Hypoplasia of the maxilla, Short metatarsal, Eruptio... |
OMIM:166250 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Cleft soft palate, Uplifted earlobe, Pierre-Robin sequence, Clinodactyl... |
OMIM:620183 |
| Double Outlet Right Ventricle |
|
Hypoparathyroidism, Cyanosis, Intestinal malrotation, Abnormality of cartilage of external ear, S... |
ORPHA:3426 |
| Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... |
OMIM:311300 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Cutis marmorata, Large earlobe, Polydactyly, Leukemia, Smooth philtrum |
OMIM:602501 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Sandal gap, High, narrow palate, Submucous cleft ... |
OMIM:612863 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Palmoplantar blistering, Hyperkeratosis, Palmoplantar hyperkeratosis |
ORPHA:89838 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:94066 |
| Split-Hand/Foot Malformation 3 |
|
Split hand, Cleft palate, High palate, Narrow mouth, Camptodactyly |
OMIM:246560 |
| Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Hand polydactyly, Scoliosis, Radial deviation of finger, Clinodactyly |
OMIM:300337 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly, Conical tooth, Carious teeth, Bilateral cleft lip and palate, Conductive heari... |
ORPHA:1997 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Abnormal erythrocyte morphology, Cyanosis, Central apnea |
ORPHA:71277 |
| Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Split foot |
OMIM:601349 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Overfolded helix, Large fleshy ears, Widely spaced teeth, Low-set ear... |
OMIM:619092 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Short palm, Facial palsy, Micrognathia, Carious teeth, Trismus, Tapered finger, Adducted thumb, E... |
OMIM:272430 |
| Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Narrow mouth, Conductive hearing impairment, Short... |
OMIM:132450 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Mixed hearing impairment, Large tarsal bones, Micrognathia, Sensorineural h... |
OMIM:215150 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Long philtrum, Cleft palate, Abnormal metacarpal morphology |
ORPHA:166100 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
| Erythrokeratodermia Variabilis |
|
Tapered finger, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Abnormal testis morphology, B... |
ORPHA:317 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Hypoplasia of the maxil... |
OMIM:305400 |
| Say Syndrome |
|
Ulnar deviation of the 3rd finger, Short distal phalanx of finger, Cleft palate, Tapered finger |
OMIM:181180 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia... |
OMIM:617895 |
| Restrictive Dermopathy 2 |
|
Microretrognathia, Respiratory distress, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Ove... |
OMIM:619793 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... |
ORPHA:199306 |
| Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Rhizomelia, Abnormality of the humerus, Preaxial hand polydactyly, Abnormality of ... |
ORPHA:3098 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility |
ORPHA:488191 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Respiratory distress, Tongue atrophy, Respiratory failure requiring assisted... |
OMIM:211530 |
| Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... |
ORPHA:93258 |
| Summitt Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu... |
ORPHA:3210 |
| Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia... |
OMIM:619164 |
| Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... |
OMIM:223800 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Tongue fasciculations, Respiratory insufficiency |
ORPHA:238329 |
| Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly |
OMIM:614526 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy |
OMIM:254120 |
| Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Broad metacarpals, Ulna... |
ORPHA:56304 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Brain abscess, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Clubbing, Inspiratory crackles, Hypoxe... |
OMIM:610910 |
| Kbg Syndrome |
|
Thin upper lip vermilion, Macrodontia, Single transverse palmar crease, Cryptorchidism, Cleft pal... |
ORPHA:2332 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Abnormality of the plantar skin of foot, Parakeratosis |
ORPHA:64745 |
| Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol... |
OMIM:142900 |
| Hereditary Methemoglobinemia |
|
Lip discoloration, Methemoglobinemia, Cyanosis, Exertional dyspnea |
ORPHA:621 |
| Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Neonatal death, Death in infancy, Everted lower lip vermilion, Short finger |
OMIM:242500 |
| Congenital Myasthenic Syndrome |
|
Microretrognathia, Congenital hip dislocation, Cyanosis, Sudden episodic apnea, Intermittent epis... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Microretrognathia, Congenital hip dislocation, Cyanosis, Sudden episodic apnea, Intermittent epis... |
ORPHA:98914 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Flexion contracture, Scoliosis |
OMIM:619091 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Posteriorly rotated ears, Facial palsy, Micrognathia, High, narrow pal... |
ORPHA:2780 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Porokeratosis, Tarsal synostosis, Aplastic clavicle, Kyphosis, Delayed skeletal maturation, Coron... |
ORPHA:85199 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Single transverse palmar crease, Short neck, 2-3 toe syndactyly, Cutaneous synda... |
OMIM:236500 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Cryptorchidism, Kyphosis, Limited elbow extension, Short metatarsal... |
OMIM:180870 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Arachnodactyly, Cleft palate, Narrow mouth |
ORPHA:93946 |
| Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia... |
OMIM:613390 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Abnormality of t... |
ORPHA:1515 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Prominent antihelix, Deep... |
ORPHA:293725 |
| Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... |
ORPHA:1520 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Micrognathia, Absent frontal sinuses, High, narrow palate, Short middle pha... |
OMIM:119600 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Micrognathia, Cryptorchidism, Asthma, Cleft palate, Short 5th finger, Polydactyly, Ec... |
ORPHA:397590 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Macrocytic anemia, Posteriorly rotated ears, Micrognathia, Reticulocytopeni... |
OMIM:613309 |
| Abruzzo-Erickson Syndrome |
|
Radioulnar synostosis, Cleft palate |
OMIM:302905 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, High palat... |
ORPHA:570 |
| Smith-Mccort Dysplasia 1 |
|
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... |
OMIM:607326 |
| Congenital Fibrinogen Deficiency |
|
Cyanosis, Hemorrhagic ovarian cyst, Splenic rupture, Clubbing of fingers, Gingival bleeding, Volv... |
ORPHA:335 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi... |
ORPHA:710 |
| Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, Anhidrotic ectodermal dysplasia, 2-3 toe cutaneous synd... |
OMIM:129400 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Degeneratio... |
OMIM:271225 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
| Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea |
OMIM:610992 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Flexion contracture, Osteolysis involv... |
ORPHA:88630 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Cleft upper lip, Cleft palate, Clinodactyly of the 5th fi... |
OMIM:244600 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Supernumerary ni... |
ORPHA:1071 |
| Mycetoma |
|
Back pain, Abnormality of the knee, Osteomyelitis, Abnormality of the hand, Structural foot defor... |
ORPHA:2583 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Rocker bottom foot, Micrognathia, Respiratory insufficienc... |
ORPHA:1143 |
| Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Absent nipple, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syn... |
ORPHA:69085 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short lingual frenulum... |
OMIM:614091 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Posteriorly rotated ears, Postaxial polydactyly, Abnormality of the dentiti... |
OMIM:300968 |
| 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 |
| Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Triphalangeal thumb, Conductive hearing impairment, Clinodactyly of th... |
ORPHA:794 |
| Aase-Smith Syndrome I |
|
Death in infancy, Cleft palate, Talipes equinovarus, Open mouth, Slender finger |
OMIM:147800 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Palmoplantar cutis gyrata, Hearing abnormality, Cryptorchidism, Aplasia/Hyp... |
ORPHA:1555 |
| Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density, Spinal dysraphism |
ORPHA:1114 |
| Neonatal Lupus Erythematosus |
|
Hyperkeratosis, Parakeratosis |
ORPHA:398124 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Psoriasis 14, Pustular |
|
Parakeratosis, Polyarticular arthritis, Oligoarthritis |
OMIM:614204 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Respiratory distress, Abnormal cranial nerve morphology, Narro... |
ORPHA:990 |
| Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Abnormality of neutr... |
ORPHA:235 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Accelerated skeletal maturation, Craniosy... |
OMIM:175700 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Short femur, Denta... |
OMIM:300990 |
| Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Tarsal synostosis, Preaxial hand polydactyly, Short toe, Postaxial hand polyda... |
ORPHA:2750 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
| Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Posteriorly ... |
ORPHA:1427 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Abnormality of the dentition, Micrognathia, Avascular ... |
ORPHA:77258 |
| Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis |
ORPHA:79399 |
| Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
| Larsen Syndrome |
|
Finger syndactyly, Brachydactyly, Cryptorchidism, Accessory carpal bones, Cleft palate, Respirato... |
ORPHA:503 |
| Netherton Syndrome |
|
Parakeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:256500 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
| Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Short philtrum,... |
ORPHA:439822 |
| Orofaciodigital Syndrome Type 6 |
|
Apnea, Episodic tachypnea, Micrognathia, Bilateral cryptorchidism, Preaxial polydactyly, Finger c... |
ORPHA:2754 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Cyanosis, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Micrognathia, Thin vermilion border, Short philtrum, Macrotia |
ORPHA:261304 |
| Blepharocheilodontic Syndrome 2 |
|
Tooth agenesis, Cleft lip, Conical tooth, Cutaneous syndactyly |
OMIM:617681 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Parakeratosis |
ORPHA:284426 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent protruding coccyx, Dislocated radial he... |
ORPHA:2839 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Micrognathi... |
OMIM:263750 |
| Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Scapular winging, Tented upper lip vermilion, Arachnodactyly... |
OMIM:615582 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
| Pili Torti-Onychodysplasia Syndrome |
|
Abnormal pinna morphology, Cleft lip, Cleft palate, Cutaneous syndactyly, Ectodermal dysplasia, P... |
ORPHA:2890 |
| 17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate |
ORPHA:261272 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Hyperkeratosis, In... |
OMIM:136300 |
| Campomelic Dysplasia |
|
Respiratory distress, Irregular dentition, Apnea, Anterior tibial bowing, Micrognathia, Delayed e... |
OMIM:114290 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplast... |
OMIM:151210 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Tented upper lip vermilion, Broad hallux, Sandal gap, Short 2nd finger,... |
OMIM:600987 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Amegakaryocytic thrombocytopenia, Radial bowing, Apl... |
OMIM:605432 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... |
ORPHA:3258 |
| De Sanctis-Cacchione Syndrome |
|
Bilateral coxa valga, Bilateral cryptorchidism, Parakeratosis, Equinovarus deformity |
OMIM:278800 |
| Nager Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of t... |
ORPHA:245 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Tented upper lip vermilion, Overlapping toe, Optic atrophy, Thick vermilion... |
OMIM:619383 |
| Menkes Disease |
|
Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Thickened skin, ... |
ORPHA:565 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Abnormal epiphysis morpholog... |
ORPHA:226313 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Thrombocytopenia, Metaphyseal widening, Splenomegaly, Clubbing, Optic atrop... |
OMIM:617303 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Splenomegaly, Chronic pulmonary obstruction, Cough, Pulmonary art... |
ORPHA:2414 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Overfolded helix, Low-set ears, Clinodactyly, Abnormal palate morphology, Hear... |
ORPHA:251046 |
| Arthrogryposis, Distal, Type 2B1 |
|
Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Metatarsus adductus, C... |
OMIM:601680 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Cyanosis, Dyspnea, Vertigo, Hypoxemia, Methemoglobinemia |
ORPHA:464453 |
| Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Hearing im... |
ORPHA:783 |
| W Syndrome |
|
Hypoplasia of the ulna, Broad uvula, Radial bowing, Elbow dislocation, Metatarsus adductus, Submu... |
ORPHA:2804 |
| Desbuquois Dysplasia 2 |
|
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Short phalanx of finger, ... |
OMIM:615777 |
| Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact... |
ORPHA:87 |
| Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Broad hallux, Posteriorly rotated ears, Hand polydactyly, High palate, Low-set ears, ... |
OMIM:239710 |
| Radio-Renal Syndrome |
|
Respiratory distress, Micromelia, Micrognathia, High, narrow palate, Dyspnea, Hypoplasia of the r... |
ORPHA:3015 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Supernumerary nipple, Micrognathia, Submucous cleft hard palate, Unilateral cle... |
OMIM:619122 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hemivertebrae, Hypoplasia of delto... |
OMIM:173800 |
| Czeizel-Losonci Syndrome |
|
Low-set, posteriorly rotated ears, Hitchhiker thumb, Single transverse palmar crease, Spina bifid... |
ORPHA:2437 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... |
OMIM:610921 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Mediastin... |
ORPHA:91359 |
| Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Neutropenia, Clinod... |
ORPHA:193 |
| Achondroplasia |
|
Respiratory distress, Death in infancy, Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bo... |
OMIM:100800 |
| Sweeney-Cox Syndrome |
|
Uplifted earlobe, Micrognathia, Asplenia, Bilateral cryptorchidism, High palate, Short philtrum, ... |
OMIM:617746 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Micromelia |
OMIM:273680 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Thin upper lip vermilion, Sensorineural hearing impairment, T lymphocytopenia, B lymphocytopenia,... |
OMIM:615966 |
| Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Posteriorly rotated ears, Micrognathia, High, narrow palate, Supernumerary too... |
ORPHA:1787 |
| Bethlem Myopathy |
|
Scapular winging, Multiple joint contractures, Lumbar hyperlordosis, Camptodactyly of finger, Int... |
ORPHA:610 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate... |
OMIM:119800 |
| Tarp Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Neonatal death, Deep pa... |
OMIM:311900 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, High palate, Pneumonia |
ORPHA:596 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
| Hamamy Syndrome |
|
Micrognathia, Microcytic anemia, High palate, Clinodactyly of the 5th finger, Long toe, Syndactyl... |
OMIM:611174 |
| Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Cond... |
OMIM:117650 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Tented upper lip vermilion, Rocker bottom foot, Proximal placement of thumb, H... |
OMIM:619762 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Syndactyly, Abnormality of the hand, Cryptorchidism, Clinodactyly, Downtur... |
ORPHA:369891 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Clubbing, R... |
OMIM:265120 |
| Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Short foot, Cone-shaped epiphysis, ... |
OMIM:157800 |
| Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
| Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Abnormal pinna morphology, 4-5 finger syndactyly, 2-3 finger syndactyly, Fragile ski... |
ORPHA:158687 |
| Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Mandibular prognathia, Syndactyly, Abnormality of the dentition, Cryptorchidism, Broad palm, Wide... |
OMIM:618505 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Syndactyly, Toe syndactyly, Intestinal malrotation, Low-set ears, Clinodactyly of the 5th finger,... |
OMIM:601163 |
| Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, High palate, Triphalangeal th... |
ORPHA:124 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, High palate, Neutropenia, Conductive heari... |
ORPHA:443811 |
| Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion |
OMIM:616898 |
| Martsolf Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Short philtrum, Finger... |
OMIM:212720 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Short palm, Hypoplastic il... |
OMIM:611717 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Premature ovarian insufficiency, Delayed skeletal maturation, Osteoporosis, Hyperkeratosis, Male ... |
OMIM:618625 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Mandibular prognathia, Branchial cyst, Thin upper lip vermilion, Finger syndactyly, Dental crowdi... |
ORPHA:435938 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Pes planus, Syndactyly, Distal lower limb muscle weakness, Scoliosis |
OMIM:615284 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Cleft palate |
OMIM:217150 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f... |
OMIM:608670 |
| Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Cyanosis, Occipital encephalocele, Posta... |
OMIM:619879 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Orthokeratosis, Parakeratosis, Ichthyosis |
OMIM:607626 |
| Harlequin Ichthyosis |
|
Limitation of joint mobility, Hyperkeratosis, Congenital ichthyosiform erythroderma, Hand polydac... |
ORPHA:457 |
| Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Hemivertebrae, Radiou... |
OMIM:212780 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Irregular dentition, Syndactyly, Narrow mouth, Microtia, Camptodactyly, Intestinal lymphangiectas... |
OMIM:616006 |
| Native American Myopathy |
|
Micrognathia, Conductive hearing impairment, Cryptorchidism, Cleft palate, Respiratory insufficie... |
ORPHA:168572 |
| Acquired Ichthyosis |
|
Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis |
ORPHA:454 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Branchiootorenal Syndrome 1 |
|
Branchial cyst, Congenital hip dislocation, High palate, Conductive hearing impairment, Microdont... |
OMIM:113650 |
| Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate, Spina bifida, Micrognathia, Optic atrophy |
ORPHA:99742 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Everted upper lip vermilion, Petechiae, Apnea, Micrognathia, Thrombocytopen... |
OMIM:608013 |
| Feingold Syndrome |
|
Hallux valgus, Brachydactyly, Toe syndactyly, Micrognathia, External ear malformation, Esophageal... |
ORPHA:1305 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Splenomegaly, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Clinodactyly, Hypoplastic pubic bone, Coxa vara, Genu ... |
OMIM:184250 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
| Cranioectodermal Dysplasia 4 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Protruding ear, Hip dysplasia, Thin vermilion ... |
OMIM:614378 |
| Pallister-Hall-Like Syndrome |
|
Death in infancy, Toe syndactyly, Median cleft lip, Micromelia, Postaxial hand polydactyly, Hip d... |
OMIM:241800 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous... |
OMIM:613573 |
| Bohring-Opitz Syndrome |
|
Micrognathia, Dislocated radial head, Syndactyly, Neonatal respiratory distress, Cleft upper lip,... |
OMIM:605039 |
| Anencephaly 2 |
|
Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
| Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa... |
OMIM:258865 |
| Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Joint stiffn... |
ORPHA:392 |
| Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Abnormality of the ear, 2-3 toe syndactyly, Ectodermal dysplasia, Open mouth, 3-4 finger syndactyly |
OMIM:600906 |
| Myopathy And Diabetes Mellitus |
|
Hyporeflexia of upper limbs, Sensorineural hearing impairment, Shoulder girdle muscle weakness, R... |
ORPHA:2596 |
| Synaptic Congenital Myasthenic Syndromes |
|
Mandibular prognathia, Respiratory distress, Scapular winging, Hypoventilation, Neonatal respirat... |
ORPHA:98915 |
| 3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placemen... |
ORPHA:435638 |
| Chilblain Lupus |
|
Hyperkeratosis, Finger swelling |
ORPHA:90280 |
| Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G... |
OMIM:619636 |
| Stickler Syndrome, Type I |
|
Arachnodactyly, Micrognathia, Irregular femoral epiphysis, Submucous cleft hard palate, Pierre-Ro... |
OMIM:108300 |
| Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Smooth philtrum, Finger syndactyly, Brachydactyly, Low-set, posteriorly rotate... |
ORPHA:1786 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Cleft palate, Aplasia/Hypoplasia of the radius, Ectopic anus, Non-midline cleft lip |
ORPHA:2476 |
| Peripheral Dysostosis |
|
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
| Hydrolethalus Syndrome 2 |
|
Postaxial foot polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate |
OMIM:614120 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ... |
OMIM:192445 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sensorineural hearing imp... |
OMIM:220110 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Chronic otitis media, Abnormal mucociliary clearance, Bronchiectasis, Respiratory distress |
OMIM:619466 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Cutis marmorata, Protruding tongue, Cryptorchidism, Sensorineural hearing impairment, Alveolar ri... |
OMIM:612938 |
| Crane-Heise Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplas... |
ORPHA:1512 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Joint laxity, Spinal rigidity, Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocatio... |
OMIM:254090 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Mogs-Cdg |
|
Respiratory distress, Absent brainstem auditory responses, Hypoventilation, Apnea, Sensorineural ... |
ORPHA:79330 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Metaphyseal... |
ORPHA:440354 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Hyperkeratosis, Abnormality of the wrist, Abnormality of the elbow, Abnormal forearm morphology |
ORPHA:89843 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Posteriorly rotated ears... |
OMIM:617237 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Back pain, Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder mor... |
ORPHA:85438 |
| Pitt-Hopkins Syndrome |
|
Single transverse palmar crease, Short metatarsal, Finger clinodactyly, Short philtrum, Thickened... |
ORPHA:2896 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Downturned corners of mouth, Conductive hearing impairment, Advanced eruption of teeth, Prominenc... |
ORPHA:2215 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Micrognathia, Cleft palate, Respiratory insufficiency, Narrow pelvis bone, ... |
OMIM:608022 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Natal tooth, Overlapping toe, Posteriorly rotated ears, Optic atrophy, Ging... |
OMIM:123790 |
| Hidrotic Ectodermal Dysplasia |
|
Abnormal metacarpophalangeal joint morphology, Thickened skin, Palmoplantar hyperkeratosis, Clubb... |
ORPHA:189 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Hypergranulosis, Short toe, Hyperkeratosis, Palmar hyperlinearity, Palmoplantar keratoderma, Cong... |
OMIM:242100 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... |
OMIM:610913 |
| Malaria |
|
Anemia, Respiratory distress, Thrombocytopenia |
ORPHA:673 |
| Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
| Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... |
ORPHA:2753 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypnea, Dysp... |
ORPHA:36238 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Irregular menstruation, Postaxial ... |
OMIM:615986 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Rhizomelia, Optic nerve hypoplasia, Micrognathia, Submucous cleft hard palate, Epi... |
OMIM:222765 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Cryptorchidism, Optic atrophy, Death in childhood, Thrombocytopenia |
OMIM:615597 |
| Immunodeficiency 13 |
|
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Recurrent pneumonia, Bronchiect... |
OMIM:615518 |
| Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Cleft upper lip, Micrognathia, Short thumb, Cleft palate, Persistence of hemog... |
OMIM:612561 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Micrognathia, Metaphyseal widening, High palate, Microdontia, Arachnodactyl... |
ORPHA:536467 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Toe syndactyly, Intestinal pseudo-obstruction, Arachnodactyly, Cryptorchidism,... |
ORPHA:73246 |
| Immunodeficiency 19 |
|
Recurrent otitis media, T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer ce... |
OMIM:615617 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Overlapping toe, Arachnodactyly, Single transverse palmar crease, Contracture of t... |
ORPHA:83617 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal dental enamel morphology,... |
ORPHA:3253 |
| Pfeiffer Syndrome |
|
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
| Esophageal Atresia |
|
Respiratory distress, Barrett esophagus, Cyanosis, Intestinal malrotation, Hearing impairment, Py... |
ORPHA:1199 |
| Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Short palm, Brachydactyly, Hearing impairment, ... |
ORPHA:2588 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Protruding tongue, Micrognathia, Malabsorption, Bronchiectasis, Macroglossi... |
OMIM:242860 |
| Atelosteogenesis, Type Iii |
|
Radial bowing, Rhizomelia, Sandal gap, Elbow dislocation, Tombstone-shaped proximal phalanges, Wi... |
OMIM:108721 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Optic atrophy |
ORPHA:26792 |
| Fg Syndrome Type 1 |
|
Dental crowding, Single transverse palmar crease, Micrognathia, Fused teeth, High palate, Finger ... |
ORPHA:93932 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Kyphosi... |
ORPHA:3121 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Asthma, Anal canal squamous carcinoma, T lymphocytopenia, B lymphocytopenia, Recurrent... |
ORPHA:217390 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy, Sensorineural hearing impairment |
OMIM:616974 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Tapered finger, Sensorineural hearing impairment, Hip dysplasia, Hypodontia... |
ORPHA:544503 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Unilateral cryptorchidism, Bilateral cryptorchidism, High... |
OMIM:300219 |
| Opitz-Kaveggia Syndrome |
|
Dental crowding, Single transverse palmar crease, Micrognathia, Anteriorly placed anus, Prominent... |
OMIM:305450 |
| Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Sacral dimple, Miscarriage, Short hallux, Prox... |
ORPHA:2438 |
| Stuve-Wiedemann Syndrome 1 |
|
Apnea, Single transverse palmar crease, Micrognathia, Femoral bowing, Tibial bowing, Smooth tongu... |
OMIM:601559 |
| Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Decreased response to growth hormone stimulation test, Micrognathia, Cleft palate, Lo... |
OMIM:220210 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Prematurely aged... |
ORPHA:3342 |
| Birk-Barel Syndrome |
|
Microretrognathia, Reduced subcutaneous adipose tissue, Tented upper lip vermilion, Single transv... |
OMIM:612292 |
| Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Cone-shaped epiphyses of the phalanges of the hand, Coronal... |
OMIM:602849 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
| Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly |
OMIM:604757 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Single transverse palmar crease, Posteriorly rotated ears, Protruding tongue, Su... |
OMIM:618106 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Hyposegmentati... |
OMIM:614800 |
| 1Q41Q42 Microdeletion Syndrome |
|
Cryptorchidism, Hyposegmentation of neutrophil nuclei, Submucous cleft hard palate, Cleft palate,... |
ORPHA:250999 |
| Breath-Holding Spells |
|
Iron deficiency anemia, Cyanosis |
OMIM:607578 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough |
OMIM:263000 |
| Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Miscarriage, Follicular hyperkeratosis |
ORPHA:3406 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Lymphadenopathy, Hyp... |
ORPHA:79126 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Respiratory distress, Pancytopenia, Neonatal respiratory distress, Metaph... |
OMIM:260400 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula, Absent thumb |
OMIM:619239 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Splenomegaly, Optic atrophy, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:79312 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Hyperlordosis, Calcaneovalgus deformity, Areflexia of lower limbs, Hyporeflexia of lower limbs, A... |
OMIM:162370 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Brachydactyly, Prematurely aged appearance, Selective tooth agenesis, L... |
ORPHA:2959 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Low-set, posteriorly r... |
ORPHA:1908 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
| 2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, Short palm, ... |
ORPHA:251014 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Tapered finger, Submucous cleft hard palate, ... |
OMIM:619680 |
| Meckel Syndrome, Type 5 |
|
Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial fo... |
OMIM:611561 |
| Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, T... |
OMIM:612651 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
| Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis, Abnormal limb bone morphology |
ORPHA:1573 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, High palate, Clinodac... |
ORPHA:3103 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Joint stiffness, Hyperlordosis, Vertebral segmentatio... |
ORPHA:1323 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, A... |
OMIM:619148 |
| Oliver Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Supernumerary nipple, Short toe, Postaxial hand p... |
ORPHA:2920 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Thin upper lip vermilion, Short humerus, Short femur, Rhizomelia, Sandal ga... |
OMIM:607143 |
| 20P13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Finger syndactyly, Tented upper lip vermilion, Posteriorly rotated ears... |
ORPHA:313781 |
| Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Lymphadenopathy, Cough, Pl... |
ORPHA:50251 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Tracheoesophageal fistula, Upper airway obstruction, Lymphadenopat... |
ORPHA:142 |
| Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Clinodactyly of the 5th finger, Small proximal tibial epiph... |
OMIM:154780 |
| Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Stillbirth |
OMIM:263630 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:602540 |
| Sjögren-Larsson Syndrome |
|
Joint stiffness, Kyphosis, Hyperkeratosis, Scoliosis, Ichthyosis |
ORPHA:816 |
| Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Decreased response to growth hormone stimula... |
OMIM:610978 |
| Pachyonychia Congenita |
|
Respiratory distress, Natal tooth, Angular cheilitis, Palmoplantar blistering, Ear pain, Palmopla... |
ORPHA:2309 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... |
ORPHA:2658 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Cryptorchidism, Ulnar bo... |
OMIM:201750 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod... |
OMIM:148700 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion,... |
ORPHA:329178 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Optic atrophy, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:289916 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Exaggerated cupid's bow, Micrognathia, Cryptorchidism, Sensorineura... |
OMIM:614230 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Posteriorly rotated ears, Short hallux, Abnormality of the den... |
ORPHA:3224 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaundic... |
OMIM:615631 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Anterior pituitary h... |
ORPHA:177907 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Crypto... |
ORPHA:2256 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Broad long bones, Dental crowding, Fifth finger distal phalanx clinoda... |
OMIM:257850 |
| Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Intestinal... |
OMIM:300963 |
| Blepharocheilodontic Syndrome 1 |
|
Cleft upper lip, Conical tooth, Cutaneous syndactyly, Hypodontia, Clinodactyly, Anal atresia |
OMIM:119580 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea, Protruding tongue, Hand clenching, Hearing impairment |
OMIM:619580 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Choanal Atresia |
|
Respiratory distress, Cyanosis, Upper airway obstruction, Polydactyly, Tracheomalacia, Chronic si... |
ORPHA:137914 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Swollen lip, Angioedema, Erythema, Upper airway obstruction, ... |
ORPHA:100057 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Anteriorly placed anus... |
OMIM:146510 |
| Laurence-Moon Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Bilateral single transverse palmar creases,... |
ORPHA:2377 |
| Doors Syndrome |
|
Respiratory distress, Adrenal hyperplasia, Short lingual frenulum, Abnormal finger morphology, Do... |
ORPHA:79500 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Thin upper lip vermilion, Long philtrum |
OMIM:614741 |
| Wiedemann-Steiner Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Micrognathia, Tapered finger, Contracture of t... |
OMIM:605130 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the vertebral bodies, ... |
ORPHA:1788 |
| Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Death in infancy, Toe syndactyly, Camptodactyly of finger, Clef... |
ORPHA:2008 |
| Pulmonary Arteriovenous Malformation |
|
Brain abscess, Cyanosis, Liver abscess, Epistaxis, Dyspnea, Clubbing, Telangiectasia, Hypoxemia, ... |
ORPHA:2038 |
| Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hip contracture, Scapular winging, Tented upper lip vermilion, Dental crowd... |
OMIM:620369 |
| Proteus Syndrome |
|
Hyperkeratosis, Spinal canal stenosis, Hypertrophy of skin of soles, Kyphoscoliosis |
OMIM:176920 |
| Sepsis In Premature Infants |
|
Cyanosis, Petechiae, Abnormal mucociliary clearance, Splenomegaly, Leukocytosis, Jaundice, Dyspne... |
ORPHA:90051 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Elevated circulating luteinizing hormone l... |
OMIM:300845 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Osteopenia, Pes planus, Kyphoscoliosis, Follicular hyperkeratosis, Joint hypermobility |
ORPHA:300179 |
| Vertical Talus, Congenital |
|
Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus |
OMIM:192950 |
| Desmosterolosis |
|
Low-set, posteriorly rotated ears, Intestinal malrotation, Micromelia, Micrognathia, Metatarsus a... |
ORPHA:35107 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ... |
ORPHA:464738 |
| Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Met... |
OMIM:272950 |
| Slc35A1-Cdg |
|
Respiratory distress, Subcutaneous hemorrhage, Pneumonia, Giant platelets, Hypoxemia, Neutropenia... |
ORPHA:238459 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Absence of lymph node germinal center, Recurrent pneumonia, T lymphocytopenia, B lymph... |
ORPHA:277 |
| Triploidy |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Intestinal malrotation, Micrognathia, Crypt... |
ORPHA:3376 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Optic disc pallor, Macrocytic anemia, Hemolytic anemia, Respiratory distress, ... |
OMIM:615512 |
| Grange Syndrome |
|
Syndactyly, Increased susceptibility to fractures, Short palm |
ORPHA:79094 |
| Singleton-Merten Syndrome 2 |
|
Osteopenia, Osteolytic defects of the phalanges of the hand, Hyperkeratosis, Joint subluxation, S... |
OMIM:616298 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
| Stüve-Wiedemann Syndrome |
|
Respiratory distress, Bowing of the long bones, Apnea, Camptodactyly of finger, Micromelia, Abnor... |
ORPHA:3206 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Macrotia, Aganglionic megacolon, Cleft palate |
ORPHA:66629 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Short phalanx of finger, Synda... |
OMIM:616894 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma |
ORPHA:312 |
| Mosaic Trisomy 1 |
|
Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Absent distal interphalang... |
ORPHA:1692 |
| Cole Disease |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:615522 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Cleft lip, Clinodactyly, Cleft palate |
OMIM:614838 |
| White Forelock With Malformations |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Deep philtrum, Clinodactyly of the 5th fing... |
ORPHA:2475 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Median cleft lip, Absent thumb, Aplasia/Hypoplasia of the dist... |
ORPHA:1234 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Brain abscess, Central apnea, Rhizomelia, Tibial bowing, Femoral bowing, Re... |
OMIM:616482 |
| Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... |
OMIM:101200 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Anemia, High palate, Bone marrow hypocellularity, Neutropenia, Umbilical hernia, Thro... |
OMIM:614520 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... |
OMIM:274000 |
| Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Sandal gap, Hamartoma of tongu... |
OMIM:174300 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Thin upper lip vermilion, Exaggerated cupid's bow, Intestinal malrotation, Overlapping ... |
OMIM:618316 |
| Oculomaxillofacial Dysostosis |
|
Brachydactyly, Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormali... |
ORPHA:1794 |
| Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Abnormality of the ear, Clinodactyly of the 5th finger, Cond... |
ORPHA:2710 |
| Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
| Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Mediastinal lymphadenopathy, Dyspnea, Hemothorax, Lymphadenopathy, Hypoxemia, Clubbing ... |
ORPHA:199241 |
| 19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Sandal gap, External ear malformation, Conductive hearing im... |
ORPHA:254346 |
| Chitayat Syndrome |
|
Hallux valgus, Respiratory distress, Thick vermilion border, Tracheomalacia, Brachydactyly |
OMIM:617180 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Monocytopenia, Generalized lymphadenopathy,... |
OMIM:618986 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, External ear malforma... |
ORPHA:438216 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly ... |
ORPHA:2636 |
| Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula... |
ORPHA:958 |
| Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Anal stenosis, Sinusitis, Sandal gap, Autoimmune hemolytic anemia, M... |
OMIM:251260 |
| Joubert Syndrome 33 |
|
Splenomegaly, Syndactyly, Apnea |
OMIM:617767 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Shortening of all metacarpals, Shortening of all phalanges of fingers, Platyspondy... |
OMIM:601356 |
| Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial... |
ORPHA:1553 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:617571 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Cleft soft palate, Micrognathia, Cryptorchidism, Hypoxemia, Microtia, Submucous cleft soft palate... |
ORPHA:2282 |
| Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... |
ORPHA:1507 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Short lingual frenulum, Bilateral cryptorchidism, Midgut malrotation, Sensorineural hea... |
ORPHA:2326 |
| Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ... |
ORPHA:1896 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress, Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly placed ... |
ORPHA:798 |
| Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Micrognathia... |
OMIM:613848 |
| Stt3B-Cdg |
|
Respiratory distress, Cryptorchidism, Optic atrophy, Thrombocytopenia |
ORPHA:370924 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint laxity, Bowing of the long bones, Epiphyseal dysplasia, Kyphoscoliosis, Hypopla... |
OMIM:615349 |
| Aromatase Deficiency |
|
Osteopenia, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Femal... |
ORPHA:91 |
| Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... |
OMIM:311200 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Spontaneous neonatal pneumothorax, Frontal open bite, Micrognathia, Short toe, Gingival overgrowt... |
OMIM:225410 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short phi... |
OMIM:619950 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, High palate, Inspiratory stridor, Irregular respiration |
OMIM:604377 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Sideroblastic anemia, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Cutis marmorata, Splenomegaly, Esophageal varix, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Dental crowding, Decreased response to growth hormo... |
ORPHA:96182 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Pneumonia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
| Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydactyly, Shor... |
OMIM:258850 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Micrognathia, Downturned corners of mouth, High palate, Conductive hearing impairment, Camptodact... |
OMIM:265000 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... |
OMIM:615513 |
| Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi... |
OMIM:151050 |
| Adnp Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Sa... |
ORPHA:404448 |
| Ring Chromosome 12 Syndrome |
|
Syndactyly, High, narrow palate, Abnormal 5th finger morphology, Cryptorchidism, Microtia, Sympha... |
ORPHA:1439 |
| Moynahan Syndrome |
|
Hyperkeratosis, Hypogonadism |
ORPHA:2574 |
| Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Posteriorly rotated ears, Micrognathia, Cutaneous syndactyly, Pleural effusion, ... |
OMIM:617822 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Sensorineural hearing impairment, Optic atrophy, Apnea |
ORPHA:79097 |
| Acrokeratoelastoidosis Of Costa |
|
Hypergranulosis, Abnormality of the lower limb, Palmoplantar hyperkeratosis, Orthokeratosis, Hype... |
ORPHA:38 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Cleft uppe... |
OMIM:613091 |
| 8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Exaggerated cupid's bow, Camptodactyly of finger, Micrognathia, Abnormality of... |
ORPHA:284160 |
| Silver-Russell Syndrome 1 |
|
Syndactyly, Decreased response to growth hormone stimulation test, Micrognathia, Short distal pha... |
OMIM:180860 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Small thenar eminence, Short 5th finger, Narro... |
OMIM:239800 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Median cleft lip, Accessory oral frenulum, Postaxial polydactyly, Splenomeg... |
OMIM:617088 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis |
OMIM:131850 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... |
OMIM:269250 |
| Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis, Talipes equinovarus |
OMIM:150260 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Sensorineural hearing impairment, Submucous cleft hard palate, Spinal dysraphism, Incomplete part... |
OMIM:617660 |
| Waardenburg Syndrome, Type 3 |
|
Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Carpal synostosis, Clinod... |
OMIM:148820 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Short metacarpal, Brachydactyly, Hearing impair... |
OMIM:101800 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Deep philtrum, Microdontia, Prominent crus of helix, Cryptorchidism, Thin lower... |
OMIM:619194 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Foot oligodactyly, Triphalangeal thumb, Conductive... |
OMIM:154400 |
| Monosomy 22 |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Aplasia of the thymus, Single transverse pa... |
ORPHA:96123 |
| Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Low-set, posteriorly rotated ears, A... |
ORPHA:59315 |
| Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Clinodactyly, Short finger |
OMIM:300049 |
| Arthrogryposis, Distal, Type 5D |
|
Congenital hip dislocation, Limited elbow movement, Short neck, Limited knee flexion, Hyperlordos... |
OMIM:615065 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin |
OMIM:247100 |
| Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micrognathia, Cleft palate, ... |
OMIM:616038 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode, Bilateral talipes equinovarus, Micrognathia |
ORPHA:284417 |
| Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe |
OMIM:181510 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
| Nephrotic Syndrome, Type 11 |
|
Arachnodactyly, Cleft lip, Partial duplication of thumb phalanx, Cleft palate, High palate, Clino... |
OMIM:616730 |
| Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Micromelia, Non-midline cleft lip, Cleft palate, High palate, Abnormal e... |
ORPHA:1784 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Prominent superficial veins, Pyloric stenosis, Dyspnea, Gingival overgrowth... |
ORPHA:363705 |
| Van Maldergem Syndrome 2 |
|
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi... |
OMIM:615546 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Dyspnea, Clubbing, Hypoxemia, Restrictive ventilatory defect, Cough, Decrease... |
ORPHA:747 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Walker-Warburg Syndrome |
|
Posteriorly rotated ears, Cryptorchidism, Submucous cleft hard palate, Optic atrophy, Cleft palat... |
ORPHA:899 |
| Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, Synostosis of carpal bones, Abnormal form of the vertebral bodies, Short palm |
ORPHA:3238 |
| Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dyspnea, U... |
ORPHA:100050 |
| Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Attached earlobe, Hypoplasia of the maxilla, Upper limb peromelia, Anterio... |
ORPHA:1299 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Me... |
ORPHA:2311 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Methemoglobinemia, Polycythemia, Exertional dyspnea |
OMIM:250800 |
| Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
2-3 finger syndactyly, Hamartoma of tongue |
ORPHA:1338 |
| Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Papilledema, Facial palsy, Dental malocclusion, 2-3 finger syn... |
OMIM:269500 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Posteriorly rotated ears, Down-sloping shoulders, Metatarsus adductus, Trismus, Deep ... |
OMIM:227330 |
| Arboleda-Tham Syndrome |
|
Mandibular prognathia, Respiratory distress, Anteverted ears, Bilateral cryptorchidism, Downturne... |
OMIM:616268 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
| Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Dental crowding, Single transverse palmar crease, Micrognathia, Hypoplasia ... |
OMIM:180849 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Spina bifida occulta |
ORPHA:1514 |
| 2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Supernumerary nipple, Tracheo... |
ORPHA:1001 |
| Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Hypopituitarism, Optic nerve hypoplasia, Cleft upper lip, Cryptorchidi... |
OMIM:603671 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia, Otitis media |
OMIM:601457 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Proximal placement of thumb, Cryptorchidism, Sensorineural hearing impairment,... |
ORPHA:139471 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Cryptorchidism, Submucous cleft hard palate, Thick lower lip vermilion, Wi... |
OMIM:619103 |
| Microlissencephaly-Micromelia Syndrome |
|
Hypoparathyroidism, Respiratory distress, Bilateral single transverse palmar creases, Micromelia,... |
ORPHA:50810 |
| Heyn-Sproul-Jackson Syndrome |
|
Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals |
OMIM:618724 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
| Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
| 19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Supernumerary nipple, Cryptorchidi... |
ORPHA:217346 |
| Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Finger syndactyly, Low-set, posteriorly rotated ears, Abnormal dental ... |
ORPHA:568 |
| Greenberg Dysplasia |
|
Micromelia, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomeli... |
OMIM:215140 |
| Peeling Skin Syndrome 4 |
|
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis |
OMIM:607936 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Aplastic anemia, Single transverse palmar crease, Microgna... |
OMIM:223370 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypergranulosis, Hyperkeratosis, Palmar hyperlinearity, Congenital nonbullous ichthyosiform eryth... |
OMIM:615023 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters |
OMIM:619817 |
| 3C Syndrome |
|
Finger syndactyly, Death in infancy, Intestinal malrotation, Micrognathia, High, narrow palate, O... |
ORPHA:7 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Accele... |
ORPHA:1517 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis |
OMIM:617525 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp... |
OMIM:614299 |
| Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:133200 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Prominent superficial veins, Decreased adipose tissue around neck, Dent... |
OMIM:608612 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Cleft soft palate, Optic nerve hypoplasia, Leukocytosis, Optic atrophy, G... |
OMIM:619321 |
| Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip |
OMIM:614402 |
| Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Hyperkeratosis, Palmar hyperlinearity, Palmoplantar keratoderma, Congenital nonbullous ichthyosif... |
OMIM:606545 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Cryptorchidism, Syndactyly, Congenital bilateral hip dislocation |
ORPHA:404451 |
| Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Patellar hypoplasia, Facial erythema, High palate, Neutropenia, Microdontia, Sho... |
ORPHA:221016 |
| Silver-Russell Syndrome 3 |
|
Syndactyly, Unilateral cryptorchidism, Small hand, Low-set ears, Clinodactyly of the 5th finger, ... |
OMIM:616489 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr... |
OMIM:271640 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Hand clenching, Respiratory distress |
ORPHA:240103 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Joint laxity, Spinal rigidity, Scoliosis, Follicular hyperkeratosis, Pes valgus, Joint contracture |
OMIM:617066 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... |
OMIM:143095 |
| Van Maldergem Syndrome 1 |
|
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi... |
OMIM:601390 |
| Three M Syndrome 3 |
|
Short neck, Hyperlordosis, Increased vertebral height, Slender long bone, Hip dysplasia, Clinodac... |
OMIM:614205 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Hy... |
ORPHA:264675 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Esophageal varix, Respiratory insufficiency, Hepatosplenomegaly, Abnormal n... |
ORPHA:367 |
| Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Supernumerary nipple, Cryptorchidism, Optic atrophy, Thin ... |
ORPHA:3255 |
| Mgat2-Cdg |
|
Low-set, posteriorly rotated ears, Impaired lymphocyte transformation with phytohemagglutinin, Re... |
ORPHA:79329 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Mandibular prognathia, Respiratory distress, Death in infancy, Respiratory failure, High palate, ... |
OMIM:620278 |
| Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Cleft palate |
OMIM:607361 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Recurrent fractures, Hyperextensibility of the knee, Thickened skin, Delayed skele... |
OMIM:601812 |
| Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Posteriorly rotated ears, Micrognathia, Open bite, Abnor... |
OMIM:115150 |
| Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Accelerated skeletal maturation, Calcan... |
OMIM:277590 |
| Orofaciodigital Syndrome Vi |
|
Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper lip, Hamartoma... |
OMIM:277170 |
| Trisomy 20P |
|
Micrognathia, Protruding ear, Downturned corners of mouth, Short philtrum, Microdontia, Low-set, ... |
ORPHA:261318 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Micrognathia, High palate, Phocomelia, Short metacarpal, Cryptorchidism, Hu... |
ORPHA:3404 |
| Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Perianal abscess, Bronchiectasis, T lymphocytopenia, Inflammation of the large intesti... |
OMIM:618108 |
| Nance-Horan Syndrome |
|
Diastema, Macrotia, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-sh... |
OMIM:302350 |
| Leopard Syndrome 3 |
|
Short neck, Epidermal hyperkeratosis, Delayed skeletal maturation, Hyperkeratosis, Cubitus valgus |
OMIM:613707 |
| Barber-Say Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,... |
OMIM:209885 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
| Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Syndactyly, Aganglionic megacolon, Dental crowding, Postaxial polydact... |
OMIM:209900 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Otitis media, Ciliary dyskinesia... |
OMIM:606763 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, T lymphocytopenia, Narrow greater sciatic notch, Short phal... |
ORPHA:508533 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Joint laxity, Multiple joint contractures, Spinal rigidity, Cryptorchidism, Follicular hyperkerat... |
ORPHA:486815 |
| Nicolaides-Baraitser Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Short metatarsal, P... |
OMIM:601358 |
| Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Cryptorchidism, Ichthyosis |
ORPHA:461 |
| Velocardiofacial Syndrome |
|
Hypoparathyroidism, Abnormality of the hand, Cryptorchidism, Velopharyngeal insufficiency, Submuc... |
OMIM:192430 |
| Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Conductive hearing impairment, Velopharyngeal insufficiency, No... |
ORPHA:199302 |
| Larsen-Like Syndrome |
|
Joint dislocation, Joint laxity, Kyphoscoliosis, Delayed skeletal maturation, Talipes equinovarus... |
OMIM:608545 |
| Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ... |
OMIM:303600 |
| Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
| Congenital Tracheomalacia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... |
ORPHA:95430 |
| Hennekam Syndrome |
|
Abnormal oral mucosa morphology, Short philtrum, Conductive hearing impairment, Finger syndactyly... |
ORPHA:2136 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Supernumerary nipple, Pyloric stenosis, Sub... |
ORPHA:457279 |
| Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration |
ORPHA:2004 |
| Treacher Collins Syndrome 1 |
|
Cleft soft palate, Micrognathia, Cryptorchidism, Cleft palate, Wide mouth, Microtia, Abnormal par... |
OMIM:154500 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Poems Syndrome |
|
Papilledema, Metaphyseal sclerosis, Respiratory insufficiency due to muscle weakness, Lymphadenop... |
ORPHA:2905 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Cryptorchidism, Short metatarsal, Advanced ossification ... |
OMIM:614613 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hyperkeratosis with erythema, Knee flexion contracture, Epiphyseal stippling, Ta... |
OMIM:118650 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Bloom Syndrome |
|
Syndactyly, Elevated hemoglobin A1c, Cryptorchidism, Bronchiectasis, Agenesis of maxillary latera... |
OMIM:210900 |
| Trisomy 8Q |
|
Camptodactyly of finger, Non-midline cleft lip, Orofacial cleft, Cleft palate, Deep palmar crease... |
ORPHA:1752 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Generalized lymphadenopathy, Pulmonary embolism, Colitis, Cough, Neutrophil... |
ORPHA:3260 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Episodic Ataxia Type 1 |
|
Hand clenching, Vertigo, Respiratory distress |
ORPHA:37612 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Hearing impairment, Aplasia/Hypoplasia of the dist... |
ORPHA:1647 |
| Ichthyosis, Annular Epidermolytic, 2 |
|
Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:620148 |
| Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Cutis marmorata, Absent toe, Split hand, Esophag... |
ORPHA:974 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Cutis marmorata, Telangiectasia of the skin, Optic atrophy, Wi... |
ORPHA:60040 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers... |
OMIM:619503 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Thin upper lip vermilion, Anal stenosis, Optic nerve hypoplasia, Micrognathia, 2-3 toe cutaneous ... |
OMIM:620029 |
| Premature Ovarian Failure 13 |
|
Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Absent nipple, Umbilical hernia, High palate, Low-set ear... |
OMIM:104350 |
| Rodrigues Blindness |
|
Ectodermal dysplasia, Tooth malposition, Nasal flaring, Protruding ear |
OMIM:268320 |
| Werner Syndrome |
|
Increased bone mineral density, Miscarriage, Rocker bottom foot, Joint stiffness, Small hand, Ost... |
ORPHA:902 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Non-midline cleft lip, Spli... |
ORPHA:1300 |
| Cerebrofacioarticular Syndrome |
|
Irregular dentition, Anal stenosis, Syndactyly, Tracheomalacia, Micrognathia, Hypoplasia of the m... |
ORPHA:314679 |
| Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Pes ... |
OMIM:607323 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Hearing impairment |
OMIM:616733 |
| Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Hyperparathyroidism, Short femur, Metaphyseal spurs, Femoral bowing, Ovaria... |
OMIM:618188 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Syndactyly, Clinodactyly, Anteverted ears |
OMIM:618087 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Thyroid hypoplasia, Posteriorly rotated ears, Camptodactyly of finger, Microg... |
ORPHA:3047 |
| Tolchin-Le Caignec Syndrome |
|
Abnormal vestibular function, Arachnodactyly, Micrognathia, Sensorineural hearing impairment, Sub... |
OMIM:618971 |
| Dihydropyrimidinase Deficiency |
|
Short phalanx of finger, Talipes equinovarus, Anal atresia |
OMIM:222748 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Oral ulc... |
ORPHA:169154 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Neonatal respiratory distress, Camptodactyly of finger, Micrognathia, Hearing ... |
ORPHA:2990 |
| Hsd10 Disease, Infantile Type |
|
Cyanosis, Optic atrophy, Hearing impairment |
ORPHA:391428 |
| Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Conductive hearing impairment, Abnormal s... |
ORPHA:2363 |
| Oculodentodigital Dysplasia |
|
Abnormal pinna morphology, Selective tooth agenesis, Cleft upper lip, Carious teeth, Conductive h... |
OMIM:164200 |
| X Small Rings |
|
Joint laxity, Toe syndactyly, Premature ovarian insufficiency, Tapered finger, Short neck, Osteop... |
ORPHA:96201 |
| Lymphatic Malformation 12 |
|
Hydrocele testis, Hyperkeratosis, Neonatal death, Death in adolescence |
OMIM:620014 |
| Ivic Syndrome |
|
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... |
ORPHA:2307 |
| Congenital Diaphragmatic Hernia |
|
Hypoxemia, Intestinal malrotation, Respiratory distress |
ORPHA:2140 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Death in childhood, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis,... |
OMIM:614457 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis |
OMIM:618546 |
| Costello Syndrome |
|
Short neck, Cryptorchidism, Delayed skeletal maturation, Ulnar deviation of finger, Joint hyperfl... |
ORPHA:3071 |
| Nipah Virus Disease |
|
Respiratory distress, Vertigo, Cough |
ORPHA:99825 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Short neck, Delayed epiphyseal ossification, Flexion... |
OMIM:210710 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Rhizomelia, Micrognathia, Trismus, Brachioradialis areflexia, Recurrent pne... |
OMIM:616271 |
| Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Micromelia, Micrognathia, Spina bifida, Trismus, Macrotia, Submucous... |
ORPHA:2671 |
| 14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Posteriorly rotated ears, Anterior pituit... |
ORPHA:264200 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Tapered finger, Cryptorchidism, Short finger, Acrocyanosis, Decreased testicular size |
ORPHA:1867 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Humeroradial synostosis, Cleft palate, Forearm undergrow... |
OMIM:251230 |
| Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
ORPHA:79100 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Triceps weakness, Cough |
ORPHA:86812 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal dysplasia, Pneumonia, Short iliac bones, Metaphyseal sclerosis, Autoimmune thrombocyt... |
OMIM:607944 |
| Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:60025 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly, Ectodermal dysplasia, Glue ear, Supernumerary nipple |
ORPHA:1433 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Microretrognathia, Syndactyly, Brachydactyly, Death in infancy, Proximal placement of thumb, Anis... |
OMIM:615789 |
| Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal morphology of ulna, Cryptorchidism, Submucous cleft h... |
ORPHA:1340 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Short toe, Sensorineural hearing impairment, Asthma, Cone-shaped epiphyses of the phalanges of th... |
OMIM:619269 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, High palate |
OMIM:619272 |
| Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Micrognathia, High ... |
ORPHA:740 |
| Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
| Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... |
OMIM:600373 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor, Goiter |
ORPHA:97285 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
High-frequency sensorineural hearing impairment, Mixed hearing impairment, Cleft soft palate, Tal... |
OMIM:614557 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis |
OMIM:613943 |
| Cranioectodermal Dysplasia 2 |
|
Micrognathia, Ectodermal dysplasia, Fused teeth, High palate, Widely spaced teeth, Microdontia, S... |
OMIM:613610 |
| Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Hypoplastic iliac wing, Short ... |
OMIM:263650 |
| Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Pneumonia, Absent thumb, Short thumb, Cryp... |
OMIM:603467 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Micrognathia, Short metatarsal, High palate, Widely spaced teeth, Microdontia, Clinodactyly of th... |
OMIM:266920 |
| Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Patellar hypoplasia, Facial erythema, Neutropenia, Microdontia, Short phalanx of... |
ORPHA:221008 |
| Robinow Syndrome |
|
Dental crowding, Micrognathia, Orofacial cleft, Syndactyly, Persistence of primary teeth, Cryptor... |
ORPHA:97360 |
| Tetanus |
|
Respiratory distress, Trismus, Tachypnea, Abnormal autonomic nervous system physiology, Autonomic... |
ORPHA:3299 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Optic atrophy, Apnea |
OMIM:261680 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Posteriorly rotated ears, Down-sloping shoulders, Micrognathia, Open bite, Dee... |
ORPHA:1974 |
| Viss Syndrome |
|
Chronic gastritis, Prominent superficial blood vessels, Micrognathia, High, narrow palate, High p... |
OMIM:619472 |
| Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia |
OMIM:112310 |
| Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Premature loss of primary... |
ORPHA:2907 |
| Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Finger syndactyly, Abnormal dental morphology, Abnormal dental e... |
ORPHA:2092 |
| Immunodeficiency 17 |
|
Death in infancy, Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T ly... |
OMIM:615607 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Clubbing, Abnormal sperm motility, Female infertility |
ORPHA:244 |
| Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, High, narrow palate, 2-3 toe cutaneous syndactyly, Fem... |
OMIM:600920 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
| Microphthalmia, Syndromic 2 |
|
Anteverted ears, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contracture of the proxi... |
OMIM:300166 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha... |
OMIM:250220 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Thrombocytopenia, Optic atrophy, Hepatosplenomegaly, Stridor, Macroglossia,... |
ORPHA:505248 |
| Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
| Atelosteogenesis, Type I |
|
Short metatarsal, Tibial bowing, Neonatal death, Short metacarpal, Radial bowing, Club-shaped pro... |
OMIM:108720 |
| Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical... |
OMIM:150250 |
| Congenital Heart Block |
|
Pleural effusion, Cyanosis, Crackles |
ORPHA:60041 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Cleft soft palate, Decreased response to growth hormone stimulation test, Tapered ... |
ORPHA:268261 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Congenital hip dislocation, Abnormal periodontium morphology, High palate, ... |
ORPHA:480880 |
| Autosomal Dominant Robinow Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned ... |
ORPHA:3107 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Micrognathia, High,... |
ORPHA:3472 |
| Catel-Manzke Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th... |
OMIM:616145 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Hyperkeratosis, Hypogonadism, Ichthyosis, Testicular seminoma |
ORPHA:281090 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Facial palsy, Hypercapnia, Reduced forced vital capacity, Respiratory insuf... |
OMIM:164310 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Spina bifida occulta, Tracheoesophageal fistula,... |
OMIM:619227 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Recurrent pneumonia, T lym... |
OMIM:300400 |
| Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis, Clubbing |
ORPHA:439 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Short toe, Sensorineural hearing impairment, Malar fla... |
OMIM:600430 |
| Neu-Laxova Syndrome 1 |
|
Micromelia, Swollen lip, Micrognathia, Calcaneovalgus deformity, Neonatal death, Finger syndactyl... |
OMIM:256520 |
| Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Anteriorly placed anu... |
OMIM:211380 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Short neck, Scoliosis, Reduced bone mineral density |
OMIM:615279 |
| Schopf-Schulz-Passarge Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
OMIM:224750 |
| Oromandibular Dystonia |
|
Respiratory distress, Abnormal lip morphology, Abnormality of the temporomandibular joint, Abnorm... |
ORPHA:93958 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Optic disc pallor, Death in infancy, Cyanosis, Apnea, Optic neuropathy, Splenomegaly, Sensorineur... |
OMIM:252010 |
| Prolidase Deficiency |
|
Arachnodactyly, Reduced bone mineral density, Genu valgum, Hyperkeratosis, Palmoplantar keratoder... |
ORPHA:742 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Celiac disease, Hypersplenism, Vertigo, Splenomegaly, ... |
OMIM:301068 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Micrognathia, Asplenia, Lobulated tongue, Accessory spleen, Syndactyly, ... |
OMIM:249000 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Bilateral ... |
ORPHA:1051 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Scoliosis, Female infertility |
OMIM:619518 |
| Vacterl/Vater Association |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Occipital encephalocele, Preaxial hand poly... |
ORPHA:887 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia... |
ORPHA:210122 |
| Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Cleft palate, Polyd... |
OMIM:603194 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal dental enamel ... |
ORPHA:464 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... |
ORPHA:2911 |
| Frank-Ter Haar Syndrome |
|
Micrognathia, Protruding ear, High palate, Short palm, Short phalanx of finger, Simple ear, Gingi... |
OMIM:249420 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Abnormal stomach morphology, Neonatal asphyxia, Dyspnea, Wheezing... |
ORPHA:141127 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hyperkeratosis, Hip dysplasia, Postaxial polydactyly, Death in infancy |
OMIM:614576 |
| Histiocytoid Cardiomyopathy |
|
Cyanosis, Tachypnea, Optic atrophy, Cleft palate, Polycystic ovaries, Cough |
ORPHA:137675 |
| Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Delayed skeletal maturation, S... |
OMIM:612921 |
| Immunodeficiency 40 |
|
Rectal fistula, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Interstitial pneu... |
OMIM:616433 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Respiratory distress, Ectopic posterior pituitary, Congenital hip dislocation, Si... |
ORPHA:508488 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis |
ORPHA:444013 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Short neck, Kyphosis, Scoliosis, Synostosis of carpal bones, Bilateral single transverse palmar c... |
ORPHA:3191 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Posteriorly rotated ears, Decreased nerve conduction velocity, Sensorineura... |
OMIM:618733 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Intestinal obstruction, Erythema, Lymphadenopathy, Urticaria, Recurrent aphthous stomatitis, Acro... |
ORPHA:343 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
| Myoclonic-Astatic Epilepsy |
|
Thin upper lip vermilion, Syndactyly, Thick lower lip vermilion, Wide mouth, Long philtrum, Prema... |
ORPHA:1942 |
| Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia, Clin... |
ORPHA:2169 |
| Constricting Bands, Congenital |
|
Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus |
OMIM:217100 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Megaloblastic anemia, Pulmonary embolism, Thrombocytopenia, Jaundice, Optic... |
ORPHA:79282 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
| Donohue Syndrome |
|
Delayed skeletal maturation, Hyperkeratosis, Large hands, Acanthosis nigricans, Long foot |
OMIM:246200 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp... |
OMIM:211350 |
| Lymphatic Malformation 4 |
|
Hydrocele testis, Hyperkeratosis, Pedal edema |
OMIM:615907 |
| Dowling-Degos Disease |
|
Abnormality of the hand, Palmar pits, Arthritis, Hyperkeratosis, Hyperkeratotic papule |
ORPHA:79145 |
| Dravet Syndrome |
|
Cyanotic episode, Tibial torsion |
ORPHA:33069 |
| Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Anteriorly placed anus, Oligodontia, Co... |
OMIM:612289 |
| Hartsfield Syndrome |
|
Syndactyly, Median cleft lip, Posteriorly rotated ears, Cleft upper lip, Cryptorchidism, Gonadotr... |
OMIM:615465 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Hypersplenism, Splenomegaly, Esophageal varix, Pulmonary arterial hypertension, Umbil... |
OMIM:616028 |
| Myotonic Dystrophy 1 |
|
Respiratory distress, Facial diplegia, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
| Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
| Kbg Syndrome |
|
Short palm, Syndactyly, Tented upper lip vermilion, Macrodontia, Single transverse palmar crease,... |
OMIM:148050 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st... |
OMIM:245590 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
| Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Posteriorly rotated ears, Squared iliac bones, Hypoplastic pubic bo... |
OMIM:258480 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Conduc... |
OMIM:304120 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Everted upper lip vermilion, Absent nipple, Abnormal oral mucosa morphology... |
OMIM:305100 |
| Meier-Gorlin Syndrome 7 |
|
2-4 finger syndactyly, Anal stenosis, Hearing impairment, Bowing of the legs, Aplasia/Hypoplasia ... |
OMIM:617063 |
| Prader-Willi Syndrome |
|
Osteopenia, Syndactyly, Hypogonadotropic hypogonadism, Cryptorchidism, Acromicria, Kyphosis, Smal... |
OMIM:176270 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Decreased response to growth hormone stimulation test, Central hypoven... |
ORPHA:293987 |
| Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
| Isolated Atp Synthase Deficiency |
|
Respiratory distress, Sensorineural hearing impairment, Optic atrophy |
ORPHA:254913 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Intestinal obstruction, Sinusitis, Cutis marmorata, Eosinophilia, Malabsorption, Asthma, Respirat... |
ORPHA:183 |
| Aicardi-Goutieres Syndrome 1 |
|
Splenomegaly, Thrombocytopenia, Erythema, Multiple gastric polyps, Prolonged neonatal jaundice, A... |
OMIM:225750 |
| Farber Disease |
|
Respiratory distress, Abnormality of the hand, Thrombocytopenia, Short toe, Abnormality of the el... |
ORPHA:333 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Rhizomelia, Postaxial polydactyly, Hamartoma of tongue, Cleft lip, Squared iliac bon... |
OMIM:616300 |
| Ramon Syndrome |
|
Hyperkeratosis, Osteolysis |
ORPHA:3019 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Equinus calcaneus, Knee dislocation, Shoulder ... |
ORPHA:536532 |
| Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
| Marden-Walker Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Posteriorly rotated ears, Micrognathia, Metatarsus adduc... |
ORPHA:2461 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Cyanosis, Genu valgum |
ORPHA:488627 |
| Chiari Malformation Type Ii |
|
Cyanosis, Spina bifida, Myelomeningocele, Cervical myelopathy, Inspiratory stridor |
OMIM:207950 |
| Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Leukopenia, High palate, Triphalangeal thumb, Clinodacty... |
ORPHA:84 |
| Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Finger syndactyly, Posteriorly rotated ears, Underdeveloped antitragus, An... |
OMIM:181270 |
| Vici Syndrome |
|
Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Micrognathia, Sensorineural heari... |
OMIM:242840 |
| Lymphatic Malformation 5 |
|
Cleft palate |
OMIM:153200 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure, Progressive hearing impairment |
OMIM:620166 |
| Noonan Syndrome 8 |
|
Palmoplantar cutis laxa, Cryptorchidism, Hyperkeratosis, Short neck |
OMIM:615355 |
| Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Congenital hip dislocation, Cyanosis, Posteriorly placed anus, Asplenia, My... |
OMIM:306955 |
| Bardet-Biedl Syndrome |
|
Finger syndactyly, Short neck, Cryptorchidism, Postaxial hand polydactyly, Hypoplasia of the ovar... |
ORPHA:110 |
| Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Congenital hip dislocation, High, narrow palate, Clinodactyly of the 5th f... |
ORPHA:373 |
| Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphope... |
OMIM:619510 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Autoimmune hemolytic anemia, Gastritis, Pneumonia, Malabsorption, Autoimmun... |
ORPHA:37042 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis |
OMIM:104100 |
| Sialidosis Type 1 |
|
Kyphosis, Delayed skeletal maturation, Abnormal form of the vertebral bodies, Hyperkeratosis, Sco... |
ORPHA:812 |
| Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anteriorly placed anus, Oligod... |
OMIM:305600 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Sensorineural hearing impairment, Low-set ears, Long philtrum, Aspiration pneumonia, ... |
OMIM:616430 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
| Degcags Syndrome |
|
Micrognathia, Premature graying of hair, Leukopenia, Iron deficiency anemia, High palate, Syndact... |
OMIM:619488 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Respiratory distress, Irregular iliac... |
ORPHA:99646 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
| Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Jacobsen Syndrome |
|
Long hallux, Abnormality of the anus, Low-set, posteriorly rotated ears, Broad hallux phalanx, Fi... |
ORPHA:2308 |
| Fraser Syndrome 2 |
|
Intestinal malrotation, Rectal atresia, Cutaneous syndactyly, Respiratory failure, Hypoplasia of ... |
OMIM:617666 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Death in infancy, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Early ... |
OMIM:208500 |
| Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Clubbing of toes, Airway ob... |
ORPHA:99106 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Sinusitis, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmune thromboc... |
ORPHA:572 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Spl... |
OMIM:224120 |
| Ethylene Glycol Poisoning |
|
Cyanosis, Gastritis, Facial palsy, Episodic respiratory distress, Tachypnea, Abnormal pattern of ... |
ORPHA:31826 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropen... |
ORPHA:292 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Brain abscess, Spontaneous, recurrent epistaxis, Cyanosis, Polycythe... |
OMIM:600376 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura... |
OMIM:600802 |
| Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Absent gallbladder, Abnormal pinna morph... |
OMIM:184705 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Advanced eruption of teeth, Low-set, posteriorly rotat... |
ORPHA:818 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Jaundice, Abnormal pinna morphology, Neonatal death |
OMIM:231680 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Respiratory distress, Hypoparathyroidism, Neonatal respiratory distress, Sens... |
ORPHA:209905 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, High, narrow palate, Ab... |
ORPHA:2879 |
| Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
| Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Respiratory distress, Neutrophilia, Facial palsy, Pauc... |
ORPHA:79139 |
| Microphthalmia, Syndromic 6 |
|
Single transverse palmar crease, Uplifted earlobe, Micrognathia, Protruding ear, High palate, Cli... |
OMIM:607932 |
| Mosaic Trisomy 16 |
|
Syndactyly, Abnormal ear morphology, Single transverse palmar crease, Short thumb, Clinodactyly, ... |
ORPHA:1708 |
| Townes-Brocks Syndrome 1 |
|
2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Talipes, Preaxia... |
OMIM:107480 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Overlapping toe, Low-set ears |
OMIM:617478 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Micrognathia, Bowing of the legs, Triangular shaped distal phalanges of the hand, Abn... |
OMIM:271665 |
| Eosinophilic Fasciitis |
|
Acrocyanosis, Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
| Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Hearing impairment, Micrognathia... |
OMIM:301043 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:251000 |
| Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Posteriorly rotated ears, Abnormal pinna morphology, Micrognathia, Cleft lip, Sensori... |
OMIM:616975 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
| Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
| Myasthenia Gravis |
|
Hemolytic anemia, Pure red cell aplasia, Dyspnea, Acrocyanosis, Hearing impairment |
ORPHA:589 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Hyperkeratosis, Clubbing |
OMIM:301220 |
| Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, High palate, Phocomelia, Wrist flexion contracture, Hyperplasia of... |
OMIM:268300 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Restrictive Dermopathy 1 |
|
Natal tooth, Prominent superficial blood vessels, Rocker bottom foot, Micrognathia, Submucous cle... |
OMIM:275210 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Neutrophilia, Abscess, Splenomegaly, Stomatitis |
OMIM:612852 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Follicular hyperkeratosis |
OMIM:615147 |
| Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Hallux valgus, Papilledema, Dental crowding, Br... |
OMIM:614188 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
| Zttk Syndrome |
|
Absent gallbladder, Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft hard... |
OMIM:617140 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Erosion of oral mucosa, Abnormal oral mucosa morphology, Abnormal fingertip... |
ORPHA:79404 |
| Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ... |
ORPHA:206436 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Thrombocytopenia |
ORPHA:79242 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Osteomyelitis, Neuropathic arthropathy, Hyperkeratosis, Limb pain, Pathologic fracture |
ORPHA:36386 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
OMIM:616029 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Malabsorption... |
ORPHA:83471 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis, Methemoglobinemia, Elevated circulating luteinizing hormone level |
OMIM:250790 |
| Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia... |
OMIM:242700 |
| Peters-Plus Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Micrognathia, Hy... |
OMIM:261540 |
| Curry-Jones Syndrome |
|
Bicoronal synostosis, Occipital meningocele, Wormian bones, Duplication of thumb phalanx, Preaxia... |
OMIM:601707 |
| Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the ear, Downturned corners... |
ORPHA:3455 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Dental crowding, High, narrow palate, Cryptorchidism, Pineal cyst, Wide mouth, Sho... |
OMIM:300967 |
| Classic Mycosis Fungoides |
|
Hyperkeratosis |
ORPHA:2584 |
| Coffin-Siris Syndrome 12 |
|
Micrognathia, Protruding ear, High palate, Simple ear, Facial palsy, Cryptorchidism, Short thumb,... |
OMIM:619325 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Single transverse palmar crease, Sensorineura... |
ORPHA:466943 |
| Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodact... |
ORPHA:2908 |
| Coccidioidomycosis |
|
Respiratory distress, Eosinophilia, Abscess, Pneumonia, Cough, Abnormality of the spleen, Mediast... |
ORPHA:228123 |
| Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis |
OMIM:136630 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Short neck, Dermatoglyphic ridges abnormal, Reduced bone mineral density, Short 5th m... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Osteopenia, Short neck, Dermatoglyphic ridges abnormal, Reduced bone mineral density, Short 5th m... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Short neck, Dermatoglyphic ridges abnormal, Reduced bone mineral density, Short 5th m... |
ORPHA:99226 |
| Turner Syndrome |
|
Osteopenia, Short neck, Dermatoglyphic ridges abnormal, Reduced bone mineral density, Short 5th m... |
ORPHA:881 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Short humerus, Short femur, Apnea, Sensorineural hearing impairment, Orofac... |
ORPHA:17 |
| Cryptococcosis |
|
Respiratory distress, Lymphoid leukemia, Pneumonia, Mediastinal lymphadenopathy, Dyspnea, Cough, ... |
ORPHA:1546 |
| Silver-Russell Syndrome |
|
Sandal gap, Lower limb asymmetry, Cryptorchidism, Delayed skeletal maturation, Upper limb asymmet... |
ORPHA:813 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir... |
ORPHA:1422 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Kyphoscoliosis, Hyperkeratosis, Camptodactyly, Arthrogryposis multiplex congenita, Joint contract... |
OMIM:601701 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Abscess, Pneumonia, Tachypnea, Increased circulating myelocyte c... |
ORPHA:36234 |
| Toxic Epidermal Necrolysis |
|
Respiratory distress, Malabsorption, Intestinal perforation, Thrombocytopenia, Cough, Erythema, T... |
ORPHA:537 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Nonproductive cough, Leukocytosis, Leukopenia, Rhinitis, Ecchymos... |
ORPHA:319213 |
| Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality, Hearing impairment, Abnormality of the dentition |
ORPHA:349 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm... |
OMIM:216340 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Supernumerary nipple, Cryptorchidism, Postaxial hand polydactyly, Pulmonary... |
ORPHA:2519 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemi... |
OMIM:274150 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Pneumonia, Jaundice, Tachypnea, Anteriorly placed anus |
ORPHA:26793 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Cryptorchidism, Short toe, Orofacial cleft, Thin vermilion border, Everted low... |
ORPHA:1519 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis, Tachypnea |
ORPHA:860 |
| Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
| Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Movement abnormality of the tongue, Open mouth |
ORPHA:98805 |
| Chime Syndrome |
|
Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Osteolysis, ... |
ORPHA:3474 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Follicular hyperkeratosis, Acantholysis |
OMIM:616295 |
| Listeriosis |
|
Respiratory distress, Brain abscess, Liver abscess, Miscarriage, Abscess, Pneumonia, Jaundice, Ab... |
ORPHA:533 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... |
ORPHA:1329 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint dislocation, Joint laxity, Congenital hip dislocation, Arachnodactyly, Pes plan... |
OMIM:225400 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Follicular hyperkeratosis |
OMIM:613736 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Asplenia, Calcaneova... |
ORPHA:261537 |
| Biotinidase Deficiency |
|
Respiratory distress, Apnea, Optic neuropathy, Hyperventilation, Myelopathy, Sensorineural hearin... |
ORPHA:79241 |
| Pseudoaminopterin Syndrome |
|
Pes planus, Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow moveme... |
ORPHA:221120 |
| Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Tapered finger, Unilateral deafness, S... |
OMIM:619539 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Short lingual frenulum, Supernumerary nipple, Unilateral brachydactyly, Wide mouth, H... |
ORPHA:1521 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t... |
OMIM:149730 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Arachnodactyly, Optic nerve hypoplasia, Absent thumb, Hypoplasia of the maxil... |
ORPHA:500150 |
| Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Pes planus, Congenital hip dislocation, Arachnodactyly, Congenital kyphoscoliosis, Ab... |
ORPHA:536545 |
| Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thrombocytopenia,... |
ORPHA:79124 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+... |
OMIM:606367 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
| Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hyperkeratosis, Hammertoe, Pes cavus |
OMIM:620189 |
| Timothy Syndrome |
|
Thin upper lip vermilion, Pneumonia, Cutaneous syndactyly, Microdontia, Pulmonary arterial hypert... |
OMIM:601005 |
| Charge Syndrome |
|
Abnormal tibia morphology, Hypoplasia of the semicircular canal, Clinodactyly of the 5th finger, ... |
ORPHA:138 |
| Neurocardiofaciodigital Syndrome |
|
Syndactyly, Optic disc pallor, Thin vermilion border, High palate, Polydactyly, Retrognathia, Hea... |
OMIM:619869 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Macroglossia, Pleural effusion |
OMIM:261740 |
| Kasabach-Merritt Syndrome |
|
Respiratory distress, Reticulocytosis, Petechiae, Thrombocytopenia, Hypopnea, Leukopenia, Microan... |
ORPHA:2330 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
| Eisenmenger Syndrome |
|
Respiratory distress, Brain abscess, Cyanosis, Increased pulmonary vascular resistance, Vertigo, ... |
ORPHA:97214 |
| Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Asplenia, Calcaneova... |
ORPHA:2152 |
| Grange Syndrome |
|
Syndactyly, Recurrent fractures, Increased susceptibility to fractures, Finger clinodactyly, Brac... |
OMIM:602531 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
ORPHA:409 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
ORPHA:927 |
| Congenital Disorder Of Glycosylation, Type If |
|
Hyperkeratosis, Flexion contracture, Death in infancy |
OMIM:609180 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Acquired Purpura Fulminans |
|
Acrocyanosis, Thrombocytopenia, Macular purpura |
ORPHA:49566 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Irregular menstruation, Follicular hyperkeratosis |
ORPHA:1809 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress |
OMIM:212140 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis |
ORPHA:79279 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Joint dislocation, Calcaneovalgus deformity, Positional foot deformity, Prom... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Joint dislocation, Calcaneovalgus deformity, Positional foot deformity, Prom... |
ORPHA:363958 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Orofacial cleft, High palate, Conductive hearing impairment, Clinodactyly of the 5th finger, Thic... |
OMIM:607872 |
| Irida Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:209981 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Acute ot... |
ORPHA:35078 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Respiratory insufficiency, Cyanosis, Apnea, Meconium ileus |
OMIM:617239 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Abnormal dental enamel morphology, Hearing impairment, Micrognathia, Dyspne... |
ORPHA:2556 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Exaggerated cupid's bow, Apnea, Downturned corners of mouth, Abnormal auton... |
ORPHA:2131 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Hyperkeratosis, Ichthyosis |
OMIM:612379 |
| Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finger syndactyly, Ta... |
OMIM:119500 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Short femur, Pneumothorax, Talipes equinovarus, Short tibia |
OMIM:620306 |
| Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Cutis marmorata, Telangiectasia of the skin, Micrognathia, Oro... |
ORPHA:1556 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251110 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, High palate, Otitis media, Conductive hearing impairment, Aspirati... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, High palate, Otitis media, Conductive hearing impairment, Aspirati... |
ORPHA:353277 |
| Q Fever |
|
Respiratory distress, Pneumonia, Splenomegaly, Lymphadenopathy, Anemia, Hepatosplenomegaly, Granu... |
ORPHA:781 |
| Poikiloderma With Neutropenia |
|
Joint laxity, Plantar hyperkeratosis, Joint stiffness, Hyperkeratosis, Palmoplantar keratoderma |
OMIM:604173 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... |
ORPHA:365 |
| Fraser Syndrome 3 |
|
Micrognathia, Short toe, Cutaneous syndactyly, Stillbirth, Low-set ears, Simple ear |
OMIM:617667 |
| Proteus Syndrome |
|
Pulmonary embolism, Abnormal finger morphology, Clinodactyly of the 5th finger, Abnormality of th... |
ORPHA:744 |
| Ablepharon-Macrostomia Syndrome |
|
Short metacarpal, Toe syndactyly, Microtia, third degree, Microtia, first degree, Anteriorly plac... |
OMIM:200110 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Narrow greater sciatic notch, Short palm, Posterior helix pit, Exaggerated... |
OMIM:312870 |
| Milroy Disease |
|
Hydrocele testis, Hyperkeratosis, Ankle swelling, Pedal edema |
ORPHA:79452 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Asplenia, Calcaneova... |
ORPHA:261552 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cryptorchidism, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth... |
ORPHA:2250 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Generalized hyperkeratosis, Hypogonadism, Generalized ichthyosis |
ORPHA:2269 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
| Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Antecubital pterygium, Aplasia/hypoplasia ... |
ORPHA:40366 |
| Bone Marrow Failure Syndrome 3 |
|
Metaphyseal dysplasia, Congenital hip dislocation, Cryptorchidism, Reduced bone mineral density, ... |
OMIM:617052 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Cleft upper lip, Split hand, Clubbing, Cleft palate, Death in childhood |
OMIM:600460 |
| Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Single transverse palmar crease, Small hand, Intrinsic hand muscle atrophy,... |
OMIM:615273 |
| Fraser Syndrome |
|
Dental crowding, Orofacial cleft, High palate, Conductive hearing impairment, Low-set, posteriorl... |
ORPHA:2052 |
| Lichen Planopilaris |
|
Hyperkeratosis, Pterygium |
ORPHA:525 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Micromelia, Optic disc coloboma, Short phalanx of finger, Brachydactyly |
OMIM:600092 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Elbow flexion contracture, Knee flexion contracture, Hyperkeratosis, Ichthyosis, Pes cavus |
OMIM:148210 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Orthokeratosis, Subungual hyperkeratosis, Palmar hyperlinearity |
OMIM:617337 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased sensitivity to hypoxemia, Orthostatic hypotension, Acrocyanosis, Hypogeusia |
OMIM:223900 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Palmoplantar keratoderma, Follicular hyperkeratosis |
OMIM:308800 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Chronic gastritis, Single transverse palmar crease, Micrognathia, Bilatera... |
OMIM:150230 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Apnea, Malabsorption, Abnormality of the dentition, Elbow dislocation, Abnormality of the gingiva... |
ORPHA:285 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Intestinal malrotation, Polysplenia |
OMIM:616749 |
| Primary Hyperoxaluria |
|
Optic disc pallor, Cutis marmorata, Abnormality of the dentition, Optic atrophy, Rootless teeth, ... |
ORPHA:416 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad hallux phalanx, Posteriorly rotated ears, Preaxial hand p... |
ORPHA:2211 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
| Double Outlet Left Ventricle |
|
Cryptorchidism, Cyanosis, Tachypnea, Orofacial cleft |
ORPHA:3427 |
| Classical Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Orthostatic hypotension, Prematurely aged appearance,... |
ORPHA:287 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251100 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Pneumonia, Fol... |
OMIM:619381 |
| Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
| Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:28378 |
| Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Abnormal sweat gland morphology |
ORPHA:247257 |
| Plague |
|
Respiratory distress, Chapped lip, Lymphadenitis, Splenomegaly, Abnormality of the elbow, Enteroc... |
ORPHA:707 |
| Microphthalmia, Syndromic 1 |
|
Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prolapse, Orofacial... |
OMIM:309800 |
| Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypergranulosis, Acantholysis, Palmoplantar keratoderma, Ichthyosis, Orthokeratosis |
OMIM:615508 |
| 6Q Terminal Deletion Syndrome |
|
Hallux valgus, Joint laxity, Prominent metopic ridge, Short neck, Talipes calcaneovalgus, Hyperke... |
ORPHA:75857 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea |
OMIM:110100 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Subungual hyperkeratosis, Death in infancy, Cryptorchidism, Postaxial ha... |
OMIM:308205 |
| Lipoid Proteinosis |
|
Hyperkeratosis, Thickened skin |
ORPHA:530 |
| Naxos Disease |
|
Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm... |
OMIM:601214 |
| Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... |
ORPHA:555874 |
| Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Flexion contracture, Hyperkeratosis, Hypogonadism, Congenital nonbullous ichthy... |
OMIM:601675 |
| Hypotrichosis 6 |
|
Follicular hyperkeratosis |
OMIM:607903 |
| Noonan Syndrome 10 |
|
Short neck, Cryptorchidism, Hyperkeratosis, Scoliosis, Palmoplantar cutis laxa, Cubitus valgus |
OMIM:616564 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Hyperkeratosis, Congenital ichthyosiform erythroderma |
OMIM:602400 |
| Lamellar Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:313 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, Neonatal respiratory distress, Optic nerve hypoplasia, Micrognathia, Cryptorch... |
OMIM:620025 |
| Arteriosclerosis, Severe Juvenile |
|
Hip dysplasia, Gastric ulcer, Short phalanx of finger, Anemia |
OMIM:208060 |
| Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Absent nipple, Abnormality of the ... |
ORPHA:978 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Reduced bone mineral density, Finger clinodactyly, Short palm, Increased ... |
ORPHA:79474 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Kyphosis, Scoliosis, Genu varum |
ORPHA:1969 |
| Lichen Planus Pemphigoides |
|
Hyperkeratosis |
ORPHA:254478 |
| Ichthyosis Prematurity Syndrome |
|
Generalized ichthyosis, Follicular hyperkeratosis |
OMIM:608649 |
| Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
| Kid Syndrome |
|
Coxa valga, Equinus calcaneus, Patellar hypoplasia, Knee flexion contracture, Arthritis, Congenit... |
ORPHA:477 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Thin upper lip vermilion, Toe clinodactyly, Sandal gap, Optic nerve hypopl... |
OMIM:620330 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
| Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Infantile sensorineural hearing impairment, Giant somatosensory evoke... |
ORPHA:268943 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... |
OMIM:218600 |
| Hereditary Mucoepithelial Dysplasia |
|
Hyperkeratosis |
ORPHA:1839 |
| Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Recurrent pneumonia, Eosinophilia |
OMIM:610163 |
| Ovarian Dysgenesis 3 |
|
Primary amenorrhea, Female infertility |
OMIM:614324 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Polyarticular arthritis, Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617388 |
| Monilethrix |
|
Follicular hyperkeratosis |
ORPHA:573 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Decreased te... |
OMIM:610644 |
| Agammaglobulinemia, X-Linked |
|
Wheezing, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, Lymph node hypoplasia, B lympho... |
OMIM:300755 |
| Familial Benign Chronic Pemphigus |
|
Hyperkeratosis, Acantholysis |
ORPHA:2841 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... |
ORPHA:99104 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Petechiae, Pneumonia, Epistaxis, Dyspnea, Leukocytosis, Anemia, Respiratory... |
ORPHA:340 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Ichthyosis, Hyperkeratosis, Death in infancy |
OMIM:610768 |
| Loeys-Dietz Syndrome 2 |
|
Syndactyly, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Micr... |
OMIM:610168 |
| Ellis Van Creveld Syndrome |
|
Micromelia, Capitate-hamate fusion, Delayed skeletal maturation, Cryptorchidism, Genu valgum, Abn... |
ORPHA:289 |
| Noonan Syndrome 2 |
|
Short neck, Cryptorchidism, Hyperkeratosis, Palmoplantar cutis laxa, Cubitus valgus, Arthrogrypos... |
OMIM:605275 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
| Restrictive Dermopathy |
|
Natal tooth, Camptodactyly of finger, Micrognathia, Aplasia/Hypoplastia of the eccrine sweat glan... |
ORPHA:1662 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Streak ovary, Jejunal atresia, Ileal atresia, Micrognathia, Cryptorchidism, Protrudin... |
OMIM:618820 |
| Mckusick-Kaufman Syndrome |
|
Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Crypto... |
OMIM:236700 |
| Vater/Vacterl Association |
|
Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ... |
OMIM:192350 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... |
OMIM:610655 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular ... |
ORPHA:51608 |
| Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax, Anemia |
OMIM:617300 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Hyperkeratosis |
ORPHA:1028 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Joint laxity, Short neck, Cryptorchidism, Hyperkeratosis, Deep palmar crease, Ichthyosis, Cubitus... |
OMIM:607721 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis |
OMIM:610227 |
| Nocardiosis |
|
Respiratory distress, Brain abscess, Liver abscess, Pneumonia, Productive cough, Lymphadenitis, N... |
ORPHA:31204 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P... |
ORPHA:95455 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
| Isolated Arrhinia |
|
Respiratory distress, Microtia, Hypoplasia of the nasal bone |
ORPHA:1134 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal pelvis bone morphology, Camptodactyly of finger, Abnormality of the hand, Cryptorchidism... |
ORPHA:2273 |
| Cocaine Intoxication |
|
Respiratory distress, Intestinal perforation, Wheezing, Tachypnea, Pneumothorax, Colitis, Cough, ... |
ORPHA:90068 |
| Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar hyperhidrosis,... |
OMIM:257980 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Narrow mouth... |
OMIM:614748 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Toe syndactyly, Hypogonadotropic hypogonadism, Hypoplastic sacrum, Cryptorchidism, Split hand, Hy... |
OMIM:604292 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Scapular winging, Hyperlordosis, Thickened skin, Epidermal thickening, ... |
ORPHA:73223 |
| Absence Of The Pulmonary Artery |
|
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... |
ORPHA:980 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperkera... |
ORPHA:79501 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Thickened helices, Micrognathia, Protruding e... |
ORPHA:1587 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Esophageal carcinoma, ... |
ORPHA:391487 |
| Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Anal atresia, Persistent cloaca |
OMIM:615709 |
| Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital hip dislocation, Single transverse palmar crease, Microgna... |
OMIM:601803 |
| Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
| Pachyonychia Congenita 3 |
|
Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar hyperkeratosis |
OMIM:615726 |
| Dermatomyositis |
|
Abnormal eosinophil morphology, Telangiectasia of the skin, Gastrointestinal stroma tumor, Erythe... |
ORPHA:221 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Autoamputation of digits, Jaundice, Prolonged neonatal jaundice |
OMIM:256810 |
| Colchicine Poisoning |
|
Respiratory distress, Leukocytosis, Cardiorespiratory arrest |
ORPHA:31824 |
| Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Sinusitis, Bronchiectasis, Acute lymphoblastic leukemia, T lymphocyt... |
OMIM:208900 |
| Chronic Mucocutaneous Candidiasis |
|
Hyperkeratosis, Dyspareunia |
ORPHA:1334 |
| Truncus Arteriosus |
|
Tachypnea, Cyanosis, Hypoplasia of the thymus, Aplasia/hypoplasia involving bones of the extremities |
ORPHA:3384 |
| Goodpasture Syndrome |
|
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Anemia, Exe... |
OMIM:233450 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Hypoplasti... |
OMIM:606170 |
| Pmm2-Cdg |
|
Mandibular prognathia, Thin upper lip vermilion, Respiratory distress, Abnormal pinna morphology,... |
ORPHA:79318 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Dyspnea, Sensorineural hearing impairment, Episodic respiratory distress, Optic atrophy, H... |
ORPHA:255210 |
| Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Uplifted earlobe, Supernumerary nipple, Pyloric... |
OMIM:235730 |
| Aicardi-Goutières Syndrome |
|
Cutis marmorata, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatosplenome... |
ORPHA:51 |
| Spinocerebellar Ataxia 34 |
|
Epidermal hyperkeratosis |
OMIM:133190 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Toe syndactyly, Hypogonadotropic hypogonadism, Cryptorchidism, Split hand, Hyperkeratosis, Split ... |
OMIM:129900 |
| Familial Dysautonomia |
|
Orthostatic hypotension, Acrocyanosis, Optic atrophy |
ORPHA:1764 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Submucous cleft hard palate |
OMIM:618891 |
| Leptospirosis |
|
Respiratory distress, Papilledema, Jaundice, Lymphadenopathy, Cough, Pleural effusion, Thrombocyt... |
ORPHA:509 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea |
OMIM:115197 |
| Holoprosencephaly 2 |
|
Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary ... |
OMIM:157170 |
| Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Thickened skin |
ORPHA:79431 |
| Warburg-Cinotti Syndrome |
|
Ankle flexion contracture, Elbow flexion contracture, Osteolytic defects of the phalanges of the ... |
OMIM:618175 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Hyperkeratosis |
ORPHA:1806 |
| Subacute Cutaneous Lupus Erythematosus |
|
Hyperkeratosis |
ORPHA:163525 |
| Gitelman Syndrome |
|
Neoplasm of the pancreas, Respiratory distress, Vertigo, Iron deficiency anemia, Parathyroid aden... |
ORPHA:358 |
| Leprechaunism |
|
Thickened skin, Hyperkeratosis, Large hands, Acanthosis nigricans, Long foot |
ORPHA:508 |
| Cowden Syndrome |
|
Kyphosis, Palmoplantar keratoderma, Scoliosis, Generalized hyperkeratosis, Brachydactyly |
ORPHA:201 |
| Acute Radiation Syndrome |
|
Hyperkeratosis |
ORPHA:454831 |
| Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Syndactyly, Anterior pituitary hypoplasia, Postaxial polydactyly, Splenomegaly, Jaundice, Asthma,... |
OMIM:619534 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Follicular hyperkeratosis |
OMIM:613102 |
| Hyperoxaluria, Primary, Type I |
|
Cutis marmorata, Acrocyanosis, Optic atrophy, Optic neuropathy |
OMIM:259900 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
| Fabry Disease |
|
Hyperkeratosis, Arthritis, Abnormal femur morphology, Reduced bone mineral density |
ORPHA:324 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, Jaundice |
OMIM:617156 |
| Familial Keratoacanthoma |
|
Hyperkeratosis |
ORPHA:493 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Pituitary adenoma, Parathyroid hyperplasia, Respiratory failure, Pheochromo... |
ORPHA:805 |
| Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Abnormality of the peripheral nervous system, Orchi... |
ORPHA:48435 |
| Hermansky-Pudlak Syndrome |
|
Hyperkeratosis, Menometrorrhagia, Thickened skin |
ORPHA:79430 |
| Lymphatic Filariasis |
|
Ankle swelling, Orchitis, Knee osteoarthritis, Vaginal hydrocele, Hydrocele testis, Hyperkeratosis |
ORPHA:2035 |
| Leprosy |
|
Hyperkeratosis, Autoamputation of digits, Testicular mass |
ORPHA:548 |
| Xeroderma Pigmentosum |
|
Cryptorchidism, Delayed skeletal maturation, Thickened skin, Hyperkeratosis, Hypogonadism, Pteryg... |
ORPHA:910 |
| Incontinentia Pigmenti |
|
Hyperkeratosis, Hemivertebrae, Kyphoscoliosis |
OMIM:308300 |
| Reactive Arthritis |
|
Osteomyelitis, Joint stiffness, Enthesitis, Arthritis, Joint swelling, Hyperkeratosis |
ORPHA:29207 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Hydrocele testis, Epidermal hyperkeratosis |
OMIM:137940 |
| Ramon Syndrome |
|
Hyperkeratosis, Scoliosis, Juvenile rheumatoid arthritis, Kyphosis |
OMIM:266270 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Intestinal malrotation, Aplasia/Hypoplasia of the gallbladder, Umbilical he... |
ORPHA:2255 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea |
ORPHA:99050 |
| Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
| Alström Syndrome |
|
Respiratory distress, Abnormality of dental color, Decreased response to growth hormone stimulati... |
ORPHA:64 |
| Meige Disease |
|
Cobblestone-like hyperkeratosis, Pedal edema |
ORPHA:90186 |
| Scimitar Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough |
ORPHA:185 |
| Hypohidrotic Ectodermal Dysplasia |
|
Hyperkeratosis |
ORPHA:238468 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis |
OMIM:615510 |
| Mucoepithelial Dysplasia, Hereditary |
|
Follicular hyperkeratosis |
OMIM:158310 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... |
ORPHA:99125 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Hyperkeratosis |
ORPHA:79280 |
| Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Palmoplantar keratoderma, Follicular hyperkeratosis |
ORPHA:158668 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis |
ORPHA:216694 |
| Kanzaki Disease |
|
Hyperkeratosis |
OMIM:609242 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in upper limbs, Shoulder flexion contracture, Spinal rigidity, Achilles ... |
OMIM:619566 |
