Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Abnormal lung morphology, Cleft palate, Upper limb phocomelia, Stillbirth, Polydactyl... |
ORPHA:294975 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm... |
OMIM:300244 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Hypospadias, Coronal hypospadias, Short toe, Cleft palate, Ulnar deviation of fin... |
ORPHA:921 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ... |
OMIM:156530 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Coloboma, Peters anomaly, Ocular anterior segment dysgenesis, Clinodactyly, Iris colo... |
OMIM:610023 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Oculofaciocardiodental Syndrome |
|
Microcornea, Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Iris coloboma, Short thumb... |
ORPHA:2712 |
Temtamy Syndrome |
|
Short toe, Thick lower lip vermilion, Genu varum, Joint hyperflexibility, Chorioretinal coloboma,... |
ORPHA:1777 |
Hypomelanosis Of Ito |
|
Syndactyly, Cataract, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly, Radi... |
OMIM:300337 |
Cat-Eye Syndrome |
|
Abnormal rib morphology, Hip dysplasia, Chorioretinal coloboma, Iris coloboma, Hydronephrosis, An... |
ORPHA:195 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias... |
OMIM:617927 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Iris coloboma |
OMIM:210350 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... |
OMIM:311895 |
Renpenning Syndrome |
|
Cataract, Macrodontia, Hypospadias, Joint stiffness, Abnormal thumb morphology, High, narrow pala... |
ORPHA:3242 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Flexion contr... |
ORPHA:88630 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Cleft upper lip, Cleft palate, Hematuria, Chorioretinal coloboma, Iris coloboma |
OMIM:120433 |
Hyperekplexia 4 |
|
Flexion contracture, Respiratory failure, Distal arthrogryposis, High palate, Talipes equinovarus... |
OMIM:618011 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Respiratory insufficiency, Respiratory failure, Tongue fascicul... |
OMIM:253300 |
Humero-Radial Synostosis |
|
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Limitation of joint mobili... |
ORPHA:3265 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Bilateral single transverse palmar c... |
ORPHA:2377 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc... |
ORPHA:2302 |
Trisomy 13 |
|
Median cleft lip, Cataract, Abnormality of the dentition, High, narrow palate, Postaxial hand pol... |
ORPHA:3378 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Hand muscle atrophy, Joint laxity, Respiratory failure, Tongue fasciculations, Hypoplasia of the ... |
OMIM:600561 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Long palm, Arachnodactyly, Abnormality of... |
ORPHA:2759 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Single transverse palmar crease, Respiratory insufficiency due to muscle weak... |
OMIM:611890 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Camptodactyly of finger, Cleft palate, Respiratory insufficiency, Restricti... |
OMIM:614399 |
Congenital Myopathy 14 |
|
Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... |
OMIM:618414 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Limited knee flexion/extension, R... |
ORPHA:266 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo... |
OMIM:265120 |
Distal Duplication 18Q |
|
Hypoplasia of penis, Arachnodactyly, Camptodactyly of finger, Abnormal dental morphology, Carious... |
ORPHA:1716 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx, Microcornea, Iris coloboma, Disloc... |
ORPHA:2839 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Osteopenia, Cleft upper lip, Cleft palate, Micropenis, Tooth agenesis, Ectrodactyly, Clinodactyly... |
OMIM:147950 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Tapered finger, Respiratory insufficien... |
OMIM:313420 |
Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... |
OMIM:612961 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Progressive cervical vertebral spine fusion, Ectopic ossification in tendon tissue... |
OMIM:135100 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Craniosy... |
ORPHA:1553 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Multicystic kidney dysplasia, Cataract, Missing ribs, Abnormal lun... |
ORPHA:3301 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Long fingers, Flexion contracture, High palate, Talipes equinovarus, Arthrogrypo... |
OMIM:601110 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aplasia/Hypoplasia of fingers, Cleft palate, Upper airway obstruct... |
ORPHA:141152 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ... |
OMIM:610913 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Cle... |
ORPHA:2631 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Respiratory failure, Tongue fasciculations, Death in childhood, Joint ... |
OMIM:616081 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia... |
OMIM:617895 |
Mulibrey Nanism |
|
Dental crowding, Single transverse palmar crease, Corneal dystrophy, Enamel hypoplasia, Dental ma... |
OMIM:253250 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Arachnodactyly, Overlapping toe, Hypospadias, Metatarsus adductus, Short thumb, High, narrow pala... |
ORPHA:436003 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger... |
OMIM:184260 |
Kahrizi Syndrome |
|
Cataract, Elbow contracture, Knee flexion contracture, Thick vermilion border, Iris coloboma |
OMIM:612713 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Micropenis, Polydactyly, Brachydactyly |
OMIM:615983 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Stage 5 chronic kidn... |
OMIM:615993 |
2Q24 Microdeletion Syndrome |
|
Central apnea, Toe syndactyly, Cataract, Camptodactyly of finger, Long fingers, Bullet-shaped dis... |
ORPHA:1617 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Flexion contracture, Hip dislocation, Elbow flexion contracture, Hyperextensibility at ... |
ORPHA:75840 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... |
ORPHA:79106 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia, Recurrent aspi... |
OMIM:300484 |
Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Optic disc coloboma, Hypoplas... |
OMIM:169550 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
3C Syndrome |
|
Recurrent respiratory infections, Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestinal... |
ORPHA:7 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Polydactyly |
OMIM:615991 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Flexion contracture, Death... |
OMIM:300717 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Micromelia, Renal cyst, Fused teeth, High palate, Microdontia, Syndactyly... |
OMIM:614091 |
Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... |
OMIM:619110 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Recurrent respiratory infections, Postaxial polydactyly, Respiratory insufficiency, Nephrocalcino... |
OMIM:615633 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... |
OMIM:619773 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Bilateral cleft lip and palate, Hematuria, Chorioretinal coloboma, Pos... |
ORPHA:1473 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly, Iris coloboma, Retinal coloboma, Chorioretinal coloboma |
ORPHA:2921 |
Bresek Syndrome |
|
Aganglionic megacolon, Postaxial hand polydactyly, Renal hypoplasia, Cleft palate, Neonatal death... |
ORPHA:85284 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Hypospadias, Respiratory failure, Death in childhood, Neonatal death, Arthrogry... |
OMIM:619334 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Corneal opacity, Aplasia/Hypoplasia of the distal ... |
ORPHA:1647 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Polydactyly, Renal cyst |
OMIM:615987 |
Linear Verrucous Nevus Syndrome |
|
Short metacarpal, Toe syndactyly, Cataract, Reduced bone mineral density, Abnormal cornea morphol... |
ORPHA:2611 |
Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Chorioretinal coloboma, Iris coloboma, F... |
ORPHA:2092 |
Acro-Renal-Ocular Syndrome |
|
Microcornea, Coloboma, Triphalangeal thumb, Chorioretinal coloboma, Vesicoureteral reflux, Iris c... |
ORPHA:959 |
Temtamy Syndrome |
|
Dental crowding, Lens luxation, Ectopia lentis, Hip dislocation, Hypoplasia of teeth, Short 2nd t... |
OMIM:218340 |
Metatropic Dysplasia |
|
Cataract, Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness,... |
ORPHA:2635 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Cataract, Preaxial hand polydactyly, Deep philtrum, Non-midline cle... |
ORPHA:1297 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Cataract, Craniosynostosis, Abnormality of the dentition, Sclerocorne... |
ORPHA:251038 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Cataract, Sclerocornea, Proximal placement of thumb, Postaxial foot polydactyl... |
ORPHA:139471 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Joint stiffness, Avascular necrosis of the capital femora... |
OMIM:132400 |
Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Upper lim... |
OMIM:607323 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Triploidy |
|
Finger syndactyly, Hypoplasia of penis, Cataract, Hypospadias, Intestinal malrotation, Non-midlin... |
ORPHA:3376 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Flexion contracture, 2-3 toe syndactyly, Gingival overgrowth, Narrow pala... |
OMIM:618186 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Finger syndactyly, Hydroureter, Abnormal dental morphology, Camptodact... |
ORPHA:568 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Otodental Syndrome |
|
Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Agenesis of premolar, Car... |
ORPHA:2791 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
Anophthalmia Plus Syndrome |
|
Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, Deviation of finger, Iris co... |
ORPHA:1104 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
Jeune Syndrome |
|
Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Abnormal rib morphol... |
ORPHA:474 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Single transverse palmar crease, Metaphyseal widening, G... |
ORPHA:536471 |
Kapur-Toriello Syndrome |
|
Cataract, Single transverse palmar crease, Camptodactyly of finger, Cleft upper lip, Intestinal m... |
OMIM:244300 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Iris coloboma, Chorioretinal coloboma, Widely-spaced incisors |
OMIM:300915 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le... |
OMIM:249710 |
2Q31.1 Microdeletion Syndrome |
|
Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Coloboma, Short palm, Clin... |
ORPHA:251014 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... |
ORPHA:3104 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Radio-Renal Syndrome |
|
Respiratory distress, Multicystic kidney dysplasia, Micromelia, High, narrow palate, Dyspnea, Hyp... |
ORPHA:3015 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respiratory failure, M... |
ORPHA:1832 |
Acromicric Dysplasia |
|
Short metacarpal, Narrow mouth, Deep philtrum, Thick lower lip vermilion, Cone-shaped epiphysis, ... |
OMIM:102370 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... |
OMIM:263000 |
Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly |
OMIM:615984 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Split hand, Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:610127 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Renal hypoplasia, Respiratory insufficiency, Respiratory failure,... |
OMIM:276950 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Congenital hip dislocation, Femur fracture, Single transverse palmar crease, Ulnar... |
OMIM:618291 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... |
ORPHA:70589 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Hypoplasia of penis, Abnormality of the dentition, Short foot, Hip dysplasia, Ocular anterior seg... |
OMIM:601427 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Microcornea, Iris coloboma, Chorioretinal coloboma |
OMIM:601706 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Iris coloboma, Orofacial cleft, Chorioretinal coloboma |
OMIM:611638 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Sandal gap, Micromelia, Bifid humerus, Flat acetabular roof, Short greater scia... |
OMIM:256050 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Cleft upper lip, Cleft palate, Palmoplantar cutis laxa, Spina bifida occulta, Abnormal digit morp... |
OMIM:268850 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... |
ORPHA:79127 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Multiple joint contractures, Abnormality of the tongue muscle, Hip dislocation, Respiratory insuf... |
ORPHA:370968 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ... |
OMIM:311300 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the dentition, Renal cyst, Polydactyly, Brachydactyly |
OMIM:615982 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Hypospadias, Aganglionic megacolon, Cleft palate, Iris coloboma |
ORPHA:66629 |
Cohen Syndrome |
|
High, narrow palate, Short philtrum, Clinodactyly of the 5th finger, Iris coloboma, Finger syndac... |
ORPHA:193 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... |
ORPHA:90117 |
Gorlin Syndrome |
|
Vertebral fusion, Cataract, Arachnodactyly, Palmar pits, Carious teeth, Iris coloboma, Brachydactyly |
ORPHA:377 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Clubbing, ... |
ORPHA:60033 |
Nizon-Isidor Syndrome |
|
Thin upper lip vermilion, Hypospadias, Long fingers, High, narrow palate, Downturned corners of m... |
OMIM:618872 |
Arthrogryposis, Distal, Type 1A |
|
Hip contracture, Stiff shoulders, Congenital hip dislocation, Overlapping toe, Single transverse ... |
OMIM:108120 |
Aase-Smith Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Cleft palate, Aplasia/Hypo... |
ORPHA:916 |
Pseudoachondroplasia |
|
Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Ost... |
OMIM:177170 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Iris coloboma, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretinal co... |
OMIM:613702 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, High, narrow palate, Metaphyseal widening, High palate, Chorioretinal c... |
OMIM:234100 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
Stromme Syndrome |
|
Cataract, Jejunal atresia, Intestinal malrotation, Sclerocornea, Bilateral renal hypoplasia, Prea... |
OMIM:243605 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
Arthrogryposis, Distal, Type 11 |
|
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... |
OMIM:620019 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent... |
ORPHA:1350 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Cleft upper lip, Duplication of phalanx of hallux, Orofacial cleft, Wid... |
OMIM:243310 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Cataract, Vesicoureteral reflux, Short foot, Joint hyperfle... |
ORPHA:250989 |
Joubert Syndrome With Renal Defect |
|
Renal insufficiency, Aganglionic megacolon, Apnea, Cleft palate, Orofacial cleft, Hand polydactyl... |
ORPHA:220497 |
Muscular Dystrophy, Congenital, 1B |
|
Achilles tendon contracture, Shoulder girdle muscle weakness, Respiratory failure |
OMIM:604801 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the ... |
OMIM:241530 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Odontogenic keratocysts of the jaw, Cataract, Down-sloping shoulders, Cleft upp... |
OMIM:109400 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Central heterochromia, Ectopic kidney, Absent radius, Preaxial h... |
ORPHA:233 |
Diastrophic Dysplasia |
|
Recurrent respiratory infections, Bowing of the long bones, Increased bone mineral density, Campt... |
ORPHA:628 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300554 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Postaxial hand polydactyly, Genu... |
ORPHA:65759 |
Joint Laxity, Short Stature, And Myopia |
|
Iris coloboma, Talipes equinovarus, Joint hypermobility, Chorioretinal coloboma |
OMIM:617662 |
Severe Congenital Nemaline Myopathy |
|
Hypospadias, Multiple prenatal fractures, Flexion contracture, Thin ribs, Respiratory failure, Pu... |
ORPHA:171430 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Enlargement of the ... |
OMIM:600081 |
Orofaciodigital Syndrome Xvii |
|
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplicatio... |
OMIM:617926 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Cleft soft palate,... |
ORPHA:2756 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Chorioretinal dystrophy, Arachnodactyly, High, narrow palate, Dyspnea, Wide... |
ORPHA:2707 |
Joubert Syndrome With Ocular Defect |
|
Aganglionic megacolon, Apnea, Cleft palate, Orofacial cleft, Hand polydactyly, Retinal coloboma, ... |
ORPHA:220493 |
Cat-Eye Syndrome (Type I) |
|
Iris coloboma, Anal atresia |
DECIPHER:42 |
Solitary Bone Cyst |
|
Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Pathologic fract... |
ORPHA:83468 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious... |
OMIM:617102 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Death in infancy, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcan... |
ORPHA:163966 |
Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure, Flexion contracture |
OMIM:615348 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Curry-Jones Syndrome |
|
Bicoronal synostosis, Anal stenosis, Intestinal pseudo-obstruction, Duplication of thumb phalanx,... |
OMIM:601707 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Isolated Osteopoikilosis |
|
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... |
ORPHA:166119 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... |
ORPHA:89936 |
Triple A Syndrome |
|
Palmoplantar keratoderma, Iris coloboma, Respiratory insufficiency, Abnormality of the hypothenar... |
ORPHA:869 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H... |
OMIM:613091 |
Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals |
OMIM:618724 |
Loose Anagen Syndrome |
|
Iris coloboma |
ORPHA:168 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect... |
ORPHA:79126 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Un... |
OMIM:616300 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Cataract, Broad hallux, Limited elbow extension, Short metatarsal, Flatte... |
ORPHA:1856 |
Joubert Syndrome With Oculorenal Defect |
|
Renal insufficiency, Aganglionic megacolon, Apnea, Tachypnea, Hand polydactyly, Foot polydactyly,... |
ORPHA:2318 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Joubert Syndrome |
|
Aganglionic megacolon, Apnea, Episodic tachypnea, Orofacial cleft, Hand polydactyly, Foot polydac... |
ORPHA:475 |
Arthrogryposis, Distal, Type 2B1 |
|
Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Metatarsus adductus, N... |
OMIM:601680 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera... |
OMIM:307800 |
Microphthalmia, Isolated 4 |
|
Coloboma, Postaxial polydactyly |
OMIM:613094 |
Hypophosphatasia |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Ab... |
ORPHA:436 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Avascular necrosis of th... |
OMIM:190351 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Joubert Syndrome 23 |
|
Coloboma, Tachypnea, Polydactyly, Apnea |
OMIM:616490 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Abnormal hand morphology, Osteolysis involving bones of the upper limbs, Osteoporosis... |
ORPHA:371428 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Deafness, Autosomal Recessive 108 |
|
Iris coloboma |
OMIM:617654 |
Joubert Syndrome 18 |
|
Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft palate, Rena... |
OMIM:614815 |
Crouzon Syndrome |
|
Respiratory insufficiency, Narrow palate, Multiple suture craniosynostosis, Conjunctivitis, Iris ... |
ORPHA:207 |
Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral segmentation and ... |
ORPHA:90652 |
Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Orofacial cleft, Developmental cataract, Respiratory failure, High palate, Ca... |
OMIM:618804 |
Holzgreve Syndrome |
|
Hand polydactyly, Renal hypoplasia, Cleft palate, Cleft upper lip |
OMIM:236110 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:264700 |
Diaphanospondylodysostosis |
|
Respiratory distress, Missing ribs, Cleft palate, Narrow pelvis bone, Multiple renal cysts, Absen... |
ORPHA:66637 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Toe syndactyly, Median cleft lip, Micromelia, Postaxial hand polydactyly, Hip d... |
OMIM:241800 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... |
DECIPHER:46 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Congenital contracture, Respiratory failure |
OMIM:225753 |
Dent Disease 1 |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300009 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Cataract, Coxa valga, Genu valgum, Narrow mouth, Short phalanx of finger, B... |
OMIM:132450 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Hypospadias, Bilateral cleft lip and palate, High palate, Enamel hypopl... |
OMIM:618874 |
Trisomy 18 |
|
Cataract, Cyclopia, Camptodactyly of finger, Esophageal atresia, Postaxial hand polydactyly, Non-... |
ORPHA:3380 |
Catifa Syndrome |
|
Delayed eruption of teeth, Cleft lip, Asthma, Cleft palate, Developmental cataract, Increased ove... |
OMIM:618761 |
Zika Virus Disease |
|
Miscarriage, Wrist swelling, Chorioretinal atrophy, Arthritis, Conjunctivitis, Lens subluxation, ... |
ORPHA:448237 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Cleft palate... |
OMIM:258860 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Osteopenia, Short metacarpal, Joint laxity, Camptodactyly of finger, T... |
OMIM:612350 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Limited elbow extension and supination, Cleft upper lip, Vesicoureteral reflux, Clef... |
OMIM:244600 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Iris coloboma, Median cleft lip, High palate, Bifid uvula |
OMIM:155145 |
Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
Orofaciodigital Syndrome Xi |
|
Cleft palate, Postaxial polydactyly |
OMIM:612913 |
Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Rhizomelia, Abnormality of the humerus, Preaxial hand polydactyly, Wide anterior f... |
ORPHA:3098 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Sclerocornea, Downturned corners of mouth, Short philtrum, Megalocornea,... |
ORPHA:280 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Respiratory fail... |
OMIM:616867 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Down-sloping shoulders, Urinary inc... |
OMIM:606071 |
Distal Deletion 13Q |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Abnormal metacarpal morphology, Iris co... |
ORPHA:1590 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Atelosteogenesis Type Ii |
|
Micromelia, Tracheobronchomalacia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of... |
ORPHA:56304 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Sclerocornea, Abnormal lung lobation, Advanced ... |
ORPHA:818 |
Coloboma Of Macula And Skeletal Anomalies |
|
Hallux valgus, Macular coloboma, Coxa valga, Cleft palate, Contracture of the distal interphalang... |
OMIM:216800 |
Adnp Syndrome |
|
Respiratory distress, Single transverse palmar crease, Urinary incontinence, Abnormal finger morp... |
ORPHA:404448 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Downturned corners of mouth, Periodontitis, Decreased skull ossification, Iris colobo... |
ORPHA:955 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Weakness of the intrinsic hand muscles, Weakness of long finge... |
ORPHA:98913 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Flexion contracture, Recur... |
ORPHA:2590 |
Multiple Synostoses Syndrome 1 |
|
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin... |
OMIM:186500 |
Intermediate Nemaline Myopathy |
|
Multiple prenatal fractures, High, narrow palate, Flexion contracture, Respiratory failure, Long ... |
ORPHA:171433 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,... |
ORPHA:957 |
Scedosporiosis |
|
Bronchial breath sound, Arthralgia/arthritis, Osteomyelitis, Pneumonia, Bronchitis, Sinusitis, Ab... |
ORPHA:449280 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... |
OMIM:619751 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatarsal, Coxa vara,... |
ORPHA:93307 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Microcornea, Iris coloboma |
OMIM:615147 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
11 pairs of ribs, Hip contracture, Pursed lips, Neonatal respiratory distress, Metatarsus adductu... |
OMIM:616266 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Craniosynostosis, Abnormality of the urethra, Split hand, Abnormal... |
ORPHA:2145 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... |
OMIM:223800 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Thin upper lip vermilion, Perianal abscess, Small hand, Micropenis, Wide mouth, Broad finger, Lon... |
OMIM:614684 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... |
OMIM:608647 |
Abruzzo-Erickson Syndrome |
|
Coloboma, Radioulnar synostosis, Hypospadias, Cleft palate |
OMIM:302905 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:277440 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Jacobsen Syndrome |
|
Microcornea, Long hallux, Iris coloboma, Abnormality of the anus, Broad hallux phalanx, Finger sy... |
ORPHA:2308 |
Pai Syndrome |
|
Median cleft lip, Cleft palate, Bifid uvula, Abnormal oral frenulum morphology, Iris coloboma |
ORPHA:1993 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Hypospadias, Downtu... |
OMIM:615761 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anterior... |
OMIM:305600 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Cataract, Corneal opacity, Chorioretinal dysplasia, Submucous cleft hard pal... |
ORPHA:899 |
Moebius Syndrome |
|
Respiratory distress, Syndactyly, Brachydactyly, Abnormality of the dentition, Split hand, Microp... |
OMIM:157900 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Generalized joint laxity, Coloboma, Hypermobility of interphalangeal joints, Short palm, Clinodac... |
ORPHA:508498 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Split hand, Apnea, Respiratory failure |
ORPHA:168486 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Premature loss of primary teeth, Abnormality of the dentition, Recurrent fractures,... |
ORPHA:93160 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Joubert Syndrome 20 |
|
4-5 toe syndactyly, Renal cyst, Respiratory insufficiency, Postaxial polydactyly |
OMIM:614970 |
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Iris coloboma |
ORPHA:139450 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Renal insufficiency, Cataract, Postaxial polydactyly, Postaxial hand polydactyly, Pos... |
OMIM:615986 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Early ossification of capital femoral epiphyses, Renal cyst, Hypoplastic iliac wing, Nephritis, S... |
OMIM:208500 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Hypospadias, Atelectasis, Glandular hypospadias, Thin rib... |
OMIM:300219 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,... |
ORPHA:457395 |
Waardenburg Syndrome Type 3 |
|
Tented upper lip vermilion, Camptodactyly of finger, Joint stiffness, Atelectasis, Abnormal finge... |
ORPHA:896 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short metatarsal, Tibial bowing, Femoral bowing, S... |
OMIM:304120 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Hypospadias, Camptodactyly of finger, Flexion contracture, Wide mouth, Respirat... |
ORPHA:1194 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Split hand, Toe syndactyly, Cleft palate, Split foot |
OMIM:183700 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Joint laxity, Overlapping toe, Single transverse palmar crease, Exaggerated cupid's bow... |
ORPHA:254528 |
Hijazi-Reis Syndrome |
|
Recurrent respiratory infections, Astigmatism, Iris coloboma |
OMIM:301094 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p... |
OMIM:617866 |
Frontorhiny |
|
Cataract, Camptodactyly of finger, Cleft palate, Finger clinodactyly, Bifid tongue, Iris coloboma... |
ORPHA:391474 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert... |
ORPHA:60025 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Ureteral duplication, Neonatal respiratory distress, Renal insufficiency, Tapered toe, ... |
OMIM:608836 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Joi... |
ORPHA:2167 |
Senior-Loken Syndrome 9 |
|
Osteopenia, Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tubulointerstitial ne... |
OMIM:616629 |
Smith-Mccort Dysplasia 2 |
|
Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatarsal, Limited ... |
OMIM:615222 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Hip dysplasia, Astigmatism, Chorioretinal coloboma, Peters anomaly, Vesicoureteral r... |
ORPHA:494344 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa... |
OMIM:258865 |
Acrorenal Syndrome |
|
Renal insufficiency, Abnormal morphology of ulna, Abnormal tibia morphology, Split hand, Cleft pa... |
ORPHA:971 |
Cerebrooculonasal Syndrome |
|
Postaxial polydactyly, Craniosynostosis, Postaxial hand polydactyly, Narrow palate, Cleft palate,... |
OMIM:605627 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Joubert Syndrome 16 |
|
Coloboma, Polydactyly, Renal cyst, Nephronophthisis |
OMIM:614465 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Joint stiffness, Cleft palate, Respiratory insufficiency, Tooth agenesis, Multiple renal cysts, A... |
ORPHA:1166 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
Orofaciodigital Syndrome V |
|
Recurrent respiratory infections, Thin upper lip vermilion, Median cleft lip, Sandal gap, Agangli... |
OMIM:174300 |
Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Absent radius, Rectal atresia, Cleft palat... |
OMIM:115470 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short femur, Long penis, Abnormal rib morphology, Rib fusion, Abnormal ... |
ORPHA:1988 |
Cleidocranial Dysplasia |
|
Sinusitis, High, narrow palate, Coxa vara, Glossoptosis, Hypoplastic inferior ilia, Clinodactyly ... |
ORPHA:1452 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Capitate-hamate fusion, Short toe, Limited elbow extension, Cleft palate, Genu ... |
OMIM:614078 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Joint laxity, Cataract, High palate, Iris coloboma |
OMIM:607906 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Clinodactyly, Hypoplastic pubic ... |
OMIM:184250 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Dental crowding, Generalized joint laxity, Tibial bowing, Coloboma, High palate, Shor... |
ORPHA:251028 |
Desbuquois Dysplasia 2 |
|
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Short phalanx of finger, ... |
OMIM:615777 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Pneumonia, Limited elbow movement, Limited wrist movement, Dyspnea, Short f... |
OMIM:617809 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Hypospadias, Intestinal malrotation, Dental malocclusion, Osteoporosis,... |
OMIM:102500 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Thin bony cortex, Osteomalacia, Irregular, rachitic-like metaphyses, S... |
ORPHA:289157 |
Donnai-Barrow Syndrome |
|
Cataract, Proteinuria, Intestinal malrotation, Non-acidotic proximal tubulopathy, Wide anterior f... |
OMIM:222448 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi... |
OMIM:114300 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod... |
OMIM:602418 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, High palate, Phocomelia, Abnormal penis morphology, Short metacarpal, Humer... |
ORPHA:3404 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Interphalangeal joint contractu... |
OMIM:151200 |
Sarcoidosis, Susceptibility To, 2 |
|
Dyspnea, Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Uvei... |
OMIM:612387 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Dental crowding, Upper limb asymmetry, High palate, Polydactyly, Clinodactyly of the 5th finger |
ORPHA:231140 |
Suleiman-El-Hattab Syndrome |
|
Recurrent respiratory infections, Thin upper lip vermilion, Single transverse palmar crease, Thic... |
OMIM:618950 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, Flexion contract... |
ORPHA:1865 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Hypoplasia of penis, High, narrow palate, Epispadias, Clinodactyly of the 5... |
ORPHA:2554 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Missing ribs, Abnormal... |
ORPHA:3186 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Recurrent infections... |
ORPHA:70 |
Joubert Syndrome 7 |
|
Central apnea, Episodic tachypnea, Postaxial polydactyly, Postaxial hand polydactyly, Tachypnea, ... |
OMIM:611560 |
Joubert Syndrome With Hepatic Defect |
|
Multicystic kidney dysplasia, Renal insufficiency, Apnea, Postaxial hand polydactyly, Optic disc ... |
ORPHA:1454 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Non-midline cleft lip, Cleft palate, Microcornea, Limbal dermoid, Iri... |
ORPHA:1791 |
Alg2-Cdg |
|
Cataract, Iris coloboma |
ORPHA:79326 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Osteomalacia, Bowing of the legs, Nephrolithiasis, Hypercalciuria, Reduced bon... |
ORPHA:157215 |
Stuve-Wiedemann Syndrome 1 |
|
Apnea, Single transverse palmar crease, Tibial bowing, Femoral bowing, Knee flexion contracture, ... |
OMIM:601559 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly of... |
ORPHA:2636 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Limited knee flexion, Narrow ... |
OMIM:615065 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Hydroureter, Wide anterior fontanel, Respiratory failure, Hydronephrosis |
OMIM:618240 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Wide anterior fontanel, ... |
ORPHA:313781 |
White-Sutton Syndrome |
|
Joint laxity, Cleft palate, Downturned corners of mouth, Thin vermilion border, Short philtrum, B... |
OMIM:616364 |
Nephronophthisis 15 |
|
Polydactyly, Nephronophthisis |
OMIM:614845 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Tented upper lip vermilion, Tapered finger, Flexion contracture, Narrow palate, Respiratory failure |
OMIM:616505 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Lacticaciduria, Methylmalonic aciduria, Respirat... |
OMIM:245400 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, A... |
OMIM:215140 |
Peripheral Dysostosis |
|
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ... |
OMIM:147891 |
Mycophenolate Mofetil Embryopathy |
|
Ectopic kidney, Tracheoesophageal fistula, Orofacial cleft, Foot polydactyly, Chorioretinal colob... |
ORPHA:268249 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... |
OMIM:605282 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Respiratory failure, High palate, Arthrogryposis multiplex congenita, ... |
OMIM:615330 |
Joubert Syndrome 10 |
|
Deep philtrum, Thick vermilion border, Postaxial polydactyly |
OMIM:300804 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Acute inf... |
ORPHA:36238 |
Congenital Hydrocephalus |
|
Iris coloboma |
ORPHA:2185 |
Stickler Syndrome, Type Ii |
|
Cataract, Arachnodactyly, Long fingers, High, narrow palate, Pierre-Robin sequence, Cleft palate,... |
OMIM:604841 |
Biemond Syndrome Type 2 |
|
Coloboma, Preaxial polydactyly, Hypospadias |
ORPHA:141333 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Knee flexion contracture, Increased density of ... |
OMIM:305620 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Cataract, Coxa valga, Wide anterior fontanel, Abnormality of the ... |
ORPHA:163649 |
Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Hypospadias, Postaxial polydactyly, Postaxial hand polydactyly, Clef... |
OMIM:614175 |
Idiopathic Pulmonary Hemosiderosis |
|
Glomerulonephritis, Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dys... |
ORPHA:99931 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormally o... |
ORPHA:1427 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Hypospadias, Decreased fibular... |
OMIM:616897 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea |
OMIM:616277 |
Congenital Vertical Talus |
|
Achilles tendon contracture, Distal arthrogryposis, Rocker bottom foot, Equinus calcaneus |
ORPHA:178382 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... |
OMIM:609945 |
Vertical Talus, Congenital |
|
Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus |
OMIM:192950 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Achilles tendon contracture, Macroglossia, Restrictive venti... |
OMIM:606612 |
Cutis Laxa-Marfanoid Syndrome |
|
Arachnodactyly, Flexion contracture, Limitation of joint mobility, Hip dislocation, Emphysema |
ORPHA:171719 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Orofacial cleft, Downturned corners of mouth, Short philtrum, Ir... |
OMIM:194190 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Radioulnar synostosis, Joint contra... |
OMIM:194350 |
Microform Holoprosencephaly |
|
Hypoplasia of penis, Tented upper lip vermilion, Asthma, Cleft palate, Orofacial cleft, Short phi... |
ORPHA:280200 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Tented upper lip vermilion, Single transverse palmar crease, Deep philtrum, Flexion contracture, ... |
ORPHA:96334 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Short phalanx of finger, S... |
ORPHA:85167 |
Meckel Syndrome, Type 1 |
|
Lobulated tongue, Iris coloboma, Syndactyly, Cleft upper lip, Postaxial foot polydactyly, Cystic ... |
OMIM:249000 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Non-midline cleft lip, Abnormal femur morphology, Cleft pal... |
ORPHA:3429 |
Donnai-Barrow Syndrome |
|
Wide anterior fontanel, Iris coloboma, Proteinuria, Intestinal malrotation |
ORPHA:2143 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Macrodontia, High, narrow palate, Microcornea, Anterior synechiae of t... |
ORPHA:3214 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Megalocornea, Rhizomeli... |
OMIM:228520 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne... |
ORPHA:454836 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contracture, Hypop... |
OMIM:611717 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous... |
ORPHA:93322 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Joint laxity, Recurrent respiratory infections, Tented upper lip vermilion, Pneumonia, Flexion co... |
ORPHA:98905 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Large tarsal bones, Recurrent pneumonia, Flared metaphysis, Pierre-Robin se... |
OMIM:215150 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Craniosynostosis, Upper airway obstructio... |
ORPHA:137914 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia... |
OMIM:613390 |
Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... |
OMIM:311900 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Hypospadias, Missing ribs, Pyloric stenosis, Flexion contractur... |
OMIM:147791 |
Dent Disease |
|
Enlarged epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Nephrocalcinosis, Aminoa... |
ORPHA:1652 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Camptodactyly of finger, Urinary incontinence, Tachypnea, Respiratory failure, Talipes equinovaru... |
OMIM:604320 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Pursed lips, Arachnodactyly, Narrow mouth, Calcaneovalgus deformity, Adducted thumb, Flexion cont... |
ORPHA:562528 |
Meckel Syndrome, Type 8 |
|
Cleft upper lip, Cleft palate, Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Enl... |
OMIM:613885 |
Larsen-Like Syndrome |
|
Joint laxity, Wide anterior fontanel, Dental malocclusion, Cleft palate, Talipes equinovarus, Rad... |
OMIM:608545 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Coxa vara, Clinodactyly of the 5th finger, Keratoconus, Arachnodactyly, Hia... |
ORPHA:3342 |
Orofaciodigital Syndrome Vi |
|
Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper lip, Hamartoma... |
OMIM:277170 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Hamartoma of tongue, Atelectasi... |
OMIM:269860 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Lip pit, Tapered finger, Hypodontia, Iris coloboma, Broad thumb, Abnorma... |
ORPHA:1236 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, Renal hypoplasia, Postaxi... |
OMIM:615996 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Scapular winging, Dental malocclusion, Thin ribs, Slender long bone, S... |
OMIM:612921 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Respiratory failure, Cli... |
ORPHA:158687 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Epiphyseal stippling, Respiratory failure, Renal cyst, Death in infancy |
OMIM:614862 |
Laurence-Moon Syndrome |
|
Micropenis, Chorioretinal atrophy, Polydactyly, Abnormality of the hand |
OMIM:245800 |
Holoprosencephaly |
|
Hypoplasia of penis, Median cleft lip, Median cleft lip and palate, Bilateral cleft lip, Proteinu... |
ORPHA:2162 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations, Respiratory failure |
OMIM:613435 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Reduced vital capacity, Achilles tendon contracture, Respiratory failure, Shoul... |
OMIM:603689 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border... |
ORPHA:544254 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased pal... |
ORPHA:2980 |
Ruvalcaba Syndrome |
|
Short metacarpal, Dental crowding, Micromelia, Limited elbow extension, Short metatarsal, Small h... |
OMIM:180870 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Duplication of thumb phalanx, Joint stiffness, Optic disc coloboma, Wide mouth, Micr... |
ORPHA:2995 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Respiratory in... |
OMIM:602088 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Hypopl... |
OMIM:187600 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Joint laxity, Hip contracture, Overlapping toe, Apnea, Flexion contracture, Hip dislocation, Elbo... |
OMIM:617301 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Sclerocornea, Esophageal atresia, Tracheoesop... |
ORPHA:77298 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Flat cornea, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorioretinal coloboma, ... |
OMIM:602499 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Reduced forced vital capacity, Achilles tendon contracture, Recurrent pneumoni... |
OMIM:620249 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia |
OMIM:620326 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... |
OMIM:606895 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Short thum... |
OMIM:227270 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, Cleft lip, Hori... |
OMIM:617925 |
Kinsship Syndrome |
|
Osteopenia, Single transverse palmar crease, Downturned corners of mouth, Short philtrum, Widely ... |
OMIM:619297 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Snail-like ilia, Flat acet... |
OMIM:269250 |
Split-Hand/Foot Malformation 3 |
|
Split hand, Renal hypoplasia, Cleft palate, High palate, Narrow mouth, Camptodactyly |
OMIM:246560 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Triangular mouth, Flattened epiphysis, Genu valgum, Polydac... |
OMIM:607131 |
Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
Campomelic Dysplasia |
|
Respiratory distress, Irregular dentition, Apnea, Anterior tibial bowing, Delayed epiphyseal ossi... |
OMIM:114290 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Metaphyseal... |
ORPHA:440354 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Overlapping toe, Postaxial polydactyly, Unilateral renal agenesis, P... |
OMIM:618142 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Cleft palate, Thin ribs, Slender long bone, Decreased calvarial ossification, V... |
OMIM:618265 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Joint laxity, Syndactyly, Polydactyly, Smooth philtrum |
OMIM:602501 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Recurrent pneumonia, Optic disc coloboma, Bifid uvula, High palate, Recurrent aspiration pneumoni... |
OMIM:300472 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... |
OMIM:300863 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Pierre-Robin sequence, Abnormal rib morphology, Cleft pa... |
OMIM:602196 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Meckel Syndrome, Type 11 |
|
Polydactyly, Polycystic kidney dysplasia |
OMIM:615397 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Renal insufficiency, Lacticaciduria, Respiratory failure, Aminoaciduria |
OMIM:619386 |
Unilateral Ocular Duplication |
|
Median cleft lip, Abnormal pupil morphology, Cleft palate, Microcornea, Iris coloboma |
ORPHA:3374 |
Meckel Syndrome, Type 3 |
|
Multicystic kidney dysplasia, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyl... |
OMIM:607361 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal morphology of ulna, T... |
ORPHA:1307 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Cataract, Abnormal dental morphology, Abnormal dental enamel morphology, Cle... |
ORPHA:861 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Cataract, Preaxial polydactyly, Spina bifida occulta |
ORPHA:64754 |
8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Microcornea, High palate, Supernumerary ribs, Talipes equinovarus, Iris colo... |
ORPHA:251066 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Clinodactyly of ... |
ORPHA:1106 |
Martsolf Syndrome 1 |
|
Osteopathia striata, High palate, Short philtrum, Finger joint hypermobility, Short palm, Micrope... |
OMIM:212720 |
3P25.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fin... |
ORPHA:435638 |
Myhre Syndrome |
|
Short philtrum, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Cleft lip, Short toe, 2-3 t... |
OMIM:139210 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Postaxial h... |
OMIM:615994 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, Sclerocornea, High, narrow palate, 2-3 toe cutaneous s... |
OMIM:600920 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Oligodontia, High palate, Broad ribs, Premature loss of teeth... |
OMIM:224300 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Hypospadias, Single transverse palmar crease, Carious teet... |
OMIM:223370 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Rhizomelia, Urinary incontinence, Wide anterior fontanel, Ti... |
OMIM:616482 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Tapered finger, Proximal renal tubular acidosis, Cleft palate,... |
OMIM:181180 |
Joubert Syndrome 15 |
|
Coloboma, Micropenis, Preaxial polydactyly, Nephronophthisis |
OMIM:614464 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Cone-Rod Dystrophy 16 |
|
Cataract, Postaxial polydactyly |
OMIM:614500 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Macular coloboma, Sclerocornea, Microcornea, Long philtrum, Ocular anterior segment dysgenesis, I... |
OMIM:615145 |
Pelger-Huet Anomaly |
|
Abnormality of the dentition, Upper limb undergrowth, Gingival overgrowth, Polydactyly, Short 3rd... |
OMIM:169400 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Genu valgum, Decreased DLCO, Aminoaciduria, Pulmonar... |
OMIM:618913 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Resp... |
OMIM:614922 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom... |
ORPHA:231736 |
Tibial Muscular Dystrophy |
|
Distal upper limb muscle weakness, Weakness of long finger extensor muscles, Respiratory failure |
ORPHA:609 |
Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... |
OMIM:206920 |
Hepatic Veno-Occlusive Disease |
|
Renal insufficiency, Respiratory failure |
ORPHA:890 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cleft palate, Orofacial cleft, Microcornea, Widely-spaced maxillary central inci... |
OMIM:601349 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Joint laxity, Recurrent respiratory infections, Respiratory distress, Cataract, Postaxial polydac... |
OMIM:300968 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Chorioretinal c... |
ORPHA:857 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Hypospadias, Asthma, Cleft palate, Short 5th finger, Polydactyly, Ectrodactyly, Micro... |
ORPHA:397590 |
Achondrogenesis, Type Ii |
|
Absent vertebral body mineralization, Broad long bones, Short tubular bones of the hand, Cleft pa... |
OMIM:200610 |
Peters-Plus Syndrome |
|
Ureteral duplication, Short lingual frenulum, Single transverse palmar crease, Limited elbow move... |
OMIM:261540 |
Mohr Syndrome |
|
Syndactyly, Median cleft lip, Accessory oral frenulum, Preaxial hand polydactyly, Postaxial hand ... |
OMIM:252100 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Ureteral stenosis, Apnea, Asthma... |
ORPHA:2257 |
Acrofrontofacionasal Dysostosis |
|
Hypospadias, Camptodactyly of finger, Micromelia, Brushfield spots, Non-midline cleft lip, Cleft ... |
ORPHA:1784 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Lens luxation, Ectopia lentis, Metaphysea... |
OMIM:224400 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Flexion contracture, Absent phalangeal crease, Antec... |
OMIM:618469 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... |
OMIM:603543 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Missing ribs, Craniosynostosis, Humeroradial synostosis,... |
OMIM:251230 |
Pontocerebellar Hypoplasia Type 1 |
|
Arthrogryposis multiplex congenita, Respiratory failure, Tongue fasciculations, Congenital laryng... |
ORPHA:2254 |
Microphthalmia, Syndromic 1 |
|
Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prolapse, Orofacial... |
OMIM:309800 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Oligodontia, Fused teeth, Contrac... |
OMIM:300166 |
Oculocerebrorenal Syndrome Of Lowe |
|
Dental crowding, Chorioretinal dysplasia, Deep philtrum, Abnormal pupil morphology, Gingivitis, O... |
ORPHA:534 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Abnormal rib m... |
ORPHA:2021 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Respiratory failure |
ORPHA:1861 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing... |
OMIM:268305 |
Mosaic Trisomy 1 |
|
Single transverse palmar crease, Orofacial cleft, Renal cyst, Finger clinodactyly, Pulmonary arte... |
ORPHA:1692 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Respiratory failure, High palate, Chylothorax, Death in c... |
OMIM:620278 |
Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Cataract, Rhizomelia, Dumbbell-shaped long bone, Delayed e... |
OMIM:156550 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Hypospadias, Short metatarsal, Advanced ossification of carpal bones, Blue irid... |
OMIM:614613 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypospadias, Polydactyly, Hypoplastic ischia |
OMIM:616910 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Cranial hyperostosis, Flared metaphysis, Gingival overgrowth, Res... |
OMIM:259720 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... |
OMIM:608022 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Bicoronal synostosis, Dental crowding, Hypospadias, Joint stiffness, Tracheobro... |
OMIM:619184 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Abnormal dental morphology, Camptodactyly of finger, Micromelia, Malabsorption, Osteo... |
ORPHA:2176 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Apneic episodes precipitated by illness, fatigue, stress, Respiratory failure, Long philtrum |
OMIM:312170 |
Alg1-Cdg |
|
Renal insufficiency, Limitation of joint mobility, Nephrotic syndrome, Respiratory failure, Prote... |
ORPHA:79327 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Intestinal malrotation, Orofacial cleft, Retinal coloboma, Iris coloboma |
ORPHA:2328 |
Peters Plus Syndrome |
|
Ureteral duplication, Micromelia, Peters anomaly, Microcornea, Abnormal pulmonary vein morphology... |
ORPHA:709 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Thi... |
ORPHA:249 |
Hogue-Janssen Syndrome 2 |
|
Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Hip d... |
OMIM:616362 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Lens coloboma, Downturned corners of mouth, Microcornea,... |
OMIM:619539 |
Three M Syndrome 3 |
|
Slender long bone, Hip dysplasia, Thick vermilion border, Long philtrum, Clinodactyly of the 5th ... |
OMIM:614205 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
Oculoauricular Syndrome |
|
Posterior embryotoxon, Cataract, Sclerocornea, Chorioretinal atrophy, Developmental cataract, Mic... |
OMIM:612109 |
Campomelia, Cumming Type |
|
Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Multicystic kidney dys... |
ORPHA:1318 |
Nail-Patella Syndrome |
|
Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Hypoplasia of first r... |
OMIM:161200 |
Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Cleft palate, Renal... |
OMIM:603194 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Apnea, Deep philtrum, Recurren... |
ORPHA:314655 |
Hypophosphatasia, Adult |
|
Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t... |
OMIM:146300 |
Congenital Myopathy 17 |
|
Ureteropelvic junction obstruction, Tented upper lip vermilion, Overlapping toe, Tapered finger, ... |
OMIM:618975 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Iris coloboma, Ectopia lentis |
ORPHA:1259 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Respiratory distress, Multiple joint contractures, Metaphyseal widening, Microcornea,... |
ORPHA:536467 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp... |
OMIM:211350 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Dental crowding, High, narrow palate, Joint hyperflexibility, High pal... |
ORPHA:2789 |
Charge Syndrome |
|
Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Abnormal tibia morph... |
ORPHA:138 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Pulmona... |
OMIM:615503 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... |
OMIM:228900 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Multiple pterygia, Cleft upper lip, Flexion contracture, Cleft palate, Thin rib... |
OMIM:312150 |
Tarp Syndrome |
|
Finger syndactyly, Apnea, Single transverse palmar crease, Rocker bottom foot, Postaxial polydact... |
ORPHA:2886 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Optic disc coloboma, High palate, Iris coloboma, Cleft palate |
ORPHA:52055 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Hypospadias, Camptodactyly of finger, Abnormal... |
ORPHA:2311 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Preaxial hand polydactyly, Non-midl... |
ORPHA:2549 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Cleft lip, Osteoporosis, Cleft palate, Micropenis, Clinodactyly |
OMIM:614838 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Corneal dystrophy, Pulmonary embolism, Gingival overgrowth, Hyperost... |
ORPHA:3205 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Anterior uveitis, Abnormal meta... |
ORPHA:85438 |
Developmental And Epileptic Encephalopathy 93 |
|
Iris coloboma |
OMIM:618012 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Rocker bottom foot, Recurrent upper respiratory tract infections, Cal... |
ORPHA:3078 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Death in infancy, Alpha-aminoadipic aciduria, ... |
OMIM:605711 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Joint stiffness, Non-midline cleft li... |
ORPHA:245 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Cataract, Micromelia, Respiratory insufficiency, Short long bone, Talip... |
OMIM:224410 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Recurrent respiratory infections, Congenital hip dislocation, Dental crowding, A... |
ORPHA:2020 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Flexion contracture, Knee flexion contracture, Downturned corners of... |
OMIM:265000 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Osteomalacia, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Hiatus... |
ORPHA:1901 |
Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, Renal insufficiency, Cataract, Unilateral renal agenesis, 3-4 finger cutaneous... |
OMIM:181270 |
Pde4D Haploinsufficiency Syndrome |
|
Joint laxity, Thin upper lip vermilion, Short metacarpal, Broad hallux, Abnormal dental enamel mo... |
ORPHA:439822 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Apnea, Episodic tachypnea, Hamartoma of tongue, Central Y-shap... |
ORPHA:2754 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Equinus calcaneus, Shoulder dislocation, High palate, Periodontitis, Premature loss o... |
ORPHA:536532 |
Xylt1-Cdg |
|
Joint laxity, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Thick vermilion borde... |
ORPHA:370930 |
Acromesomelic Dysplasia 4 |
|
Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie... |
OMIM:619636 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Urethral stricture, Abnormal oral mucosa morphology, Renal cyst, Ureterocel... |
ORPHA:79404 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, Coloboma, High palate, Short philtrum, Clinodactyly of the 5th finge... |
OMIM:200990 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pulmonary edema |
ORPHA:70578 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Deep philtrum, 2-3 toe s... |
ORPHA:404440 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Genu valgum, Short philt... |
OMIM:619142 |
9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Abnormal tongue morphology, Downturned corners of mouth, Hip dysplasia, Polydac... |
ORPHA:531151 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Joint laxity, Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of... |
OMIM:619721 |
Opsismodysplasia |
|
Recurrent respiratory infections, Short metacarpal, Rhizomelia, Anterior rib cupping, Squared ili... |
OMIM:258480 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Overlapping toe, Single transverse palmar crease, Deep philtrum, Hip di... |
OMIM:613884 |
Limb Body Wall Complex |
|
Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the upper limbs, C... |
ORPHA:2369 |
Immunodeficiency 54 |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Triangular shaped distal phalanges of the hand, Abnormal calcific... |
OMIM:271665 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Micromelia, Accessory oral frenulum, Hamartoma of tongu... |
OMIM:616546 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Osteomalacia, Bowing of the legs, Rickets, Tooth abscess |
ORPHA:89937 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Hypoplasi... |
ORPHA:1512 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finge... |
OMIM:274000 |
Orofaciodigital Syndrome Type 2 |
|
Apnea, Complete duplication of hallux phalanx, Tachypnea, Finger clinodactyly, High palate, Short... |
ORPHA:2751 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Flat glenoid fossa, Flexion contracture, Cutaneous finger syndactyly, High ... |
OMIM:224690 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Ra... |
OMIM:300106 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Achilles tendon contracture, Proximal upper limb muscle hypertrophy, Decreased cervi... |
ORPHA:254361 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Oligodontia, Micropenis, Calvarial osteosclerosis, Cleft soft palate, Gingival o... |
OMIM:616331 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Minimal change glomerulonephritis, Clef... |
OMIM:616730 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... |
ORPHA:93284 |
Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
Osteoglophonic Dysplasia |
|
Osteopenia, Respiratory distress, Short metatarsal, Eruption failure, High palate, Short palm, Sh... |
OMIM:166250 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure, Functional abnormality of the bladder |
ORPHA:71211 |
Occipital Horn Syndrome |
|
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormal... |
ORPHA:198 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Bowing of the legs, Rickets, Aminoaciduria, Glycosuria, Low-molecular-weight p... |
OMIM:615605 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Stage 5 chronic kidney disease, Brachydactyly |
OMIM:613819 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Short middle phalanx of the 2nd finger, High, narrow palate, Coxa vara, Hig... |
OMIM:119600 |
Joubert Syndrome 27 |
|
Thick lower lip vermilion, Polydactyly |
OMIM:617120 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor... |
OMIM:221900 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Short metatarsal, Oligodontia, High palate, Short palm, Clinodactyly of the 5th ... |
OMIM:170390 |
Neu-Laxova Syndrome |
|
Osteopenia, Cataract, Abnormality of the philtrum, Osteomalacia, Micromelia, Submucous cleft hard... |
ORPHA:2671 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, A... |
ORPHA:289176 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ... |
ORPHA:40366 |
Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Micromelia, Preaxial polydactyly, Tibial bowing, Microphallus, T... |
OMIM:612651 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Iris coloboma |
OMIM:212550 |
Acromesomelic Dysplasia 1 |
|
Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad... |
OMIM:602875 |
Cranioectodermal Dysplasia 3 |
|
Joint laxity, Rhizomelia, Sandal gap, Postaxial polydactyly, Sagittal craniosynostosis, 2-4 toe s... |
OMIM:614099 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Arthrogryposis multiplex congenita, Calcaneovalgus deformity |
OMIM:162370 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Death in infancy, Abnormal mor... |
ORPHA:570 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hallux valgus, Sandal gap, Recurrent shoulder dislocation, Dental crowding, Long fingers, Dyspnea... |
ORPHA:230851 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... |
ORPHA:1422 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in upper limbs, Respiratory failure |
OMIM:613954 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi... |
OMIM:601356 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Abnormality of the dentition, Avascular necrosis of th... |
ORPHA:77258 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing... |
OMIM:250220 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Thin upper lip vermilion, Overlapping toe, Postaxial polydactyly, Tapered finger, Downturned corn... |
OMIM:613792 |
Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Abnormal lung lobation, Renal cyst, Anteriorly placed anus, Neonatal death, Micro... |
OMIM:146510 |
Orofaciodigital Syndrome Iii |
|
Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydactyly, Shor... |
OMIM:258850 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, High, narrow palate, Clinodactyly, Anisocoria, Short philtrum, High ... |
OMIM:613406 |
White-Sutton Syndrome |
|
Joint laxity, Thin upper lip vermilion, Downturned corners of mouth, Astigmatism, High palate, Sh... |
ORPHA:468678 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Thin upper lip vermilion, Arachnodactyly, Metatarsus adductus, High, narrow palate, Recurrent upp... |
OMIM:612513 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle wea... |
OMIM:220110 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thick upper lip vermilion, Thin upper lip vermilion, Cataract, Single ... |
OMIM:247200 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota... |
ORPHA:93260 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contracture, High... |
OMIM:271640 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Hypoplastic ilia, Flare... |
OMIM:615349 |
Trisomy 8Q |
|
Hypoplasia of penis, Camptodactyly of finger, Joint stiffness, Non-midline cleft lip, Bone cyst, ... |
ORPHA:1752 |
Larsen Syndrome |
|
Finger syndactyly, Craniosynostosis, Accessory carpal bones, Cleft palate, Respiratory insufficie... |
ORPHA:503 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Ectopic kidney, Renal cyst, Anteriorly placed anus, Glossoptosis, Hig... |
OMIM:117650 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Nephrolithiasis |
ORPHA:352447 |
Smith-Mccort Dysplasia 1 |
|
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... |
OMIM:607326 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Hypospadias, Single transverse palmar crease, Sclerocornea, Peters anomaly, Cleft palat... |
OMIM:309801 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Neurogenic bladder, Congenital hip dislocatio... |
ORPHA:496641 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Osteomalacia, Abnormality of the dentition, Rickets, Renal phosphate wasting, Hypophosphatemic ri... |
OMIM:193100 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Cleft palate, Genu valgum, Micropenis |
OMIM:614880 |
Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Short metacarpal, Corneal opacity, Spatulate thumbs, Cleft upper ... |
OMIM:150250 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Carpal synostosis, Abnormality of ... |
ORPHA:2010 |
Bardet-Biedl Syndrome 8 |
|
Hypospadias, Postaxial polydactyly |
OMIM:615985 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota... |
ORPHA:93259 |
Aase-Smith Syndrome I |
|
Death in infancy, Flexion contracture, Cleft palate, Talipes equinovarus, Open mouth, Slender finger |
OMIM:147800 |
Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Pneumoth... |
OMIM:619879 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... |
ORPHA:308552 |
Marshall Syndrome |
|
Knee osteoarthritis, Clinodactyly of the 5th finger, Small proximal tibial epiphyses, Thick upper... |
OMIM:154780 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Ureteral duplication, Short metatarsal, Renal cyst, Widely spaced teeth, High palate,... |
OMIM:266920 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Spontaneous neonatal pneumothorax, Frontal open bite, Wide anterior fon... |
OMIM:225410 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ... |
OMIM:165590 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneovalgus deformity, Flexion contr... |
ORPHA:261537 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Ectopic kidney, High, n... |
OMIM:122470 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth... |
ORPHA:2902 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Scapular winging, Dyspnea, Glutaric aciduria, Wide anterior fontanel, Lacticaciduria, Cardiorespi... |
ORPHA:26791 |
Dihydropyrimidinase Deficiency |
|
Uraciluria, Short phalanx of finger, Talipes equinovarus, Anal atresia |
OMIM:222748 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Cataract, Hypospadias, Cleft soft palate, Unilateral renal agenesis, Tapered finge... |
ORPHA:268261 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Recurrent respiratory infections, Thin upper lip vermilion, Natal tooth, Broad hallux, Single tra... |
OMIM:620186 |
Atelosteogenesis, Type I |
|
Short metatarsal, Tibial bowing, Neonatal death, Short metacarpal, Radial bowing, Club-shaped pro... |
OMIM:108720 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure |
ORPHA:70472 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Cataract, Pneumothorax, Renal cyst, Nephrocalcinosis, Respiratory failure, 3... |
ORPHA:445038 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
C1Q Deficiency 2 |
|
Atelectasis, Bronchiectasis, Oral ulcer, Arthritis, Recurrent lower respiratory tract infections |
OMIM:620321 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Restrictive ventilatory defect, Interstitial pneumonitis, Recurrent upper respiratory tract infec... |
OMIM:620296 |
3Mc Syndrome 3 |
|
Corneal opacity, Cleft upper lip, Preaxial polydactyly, Cleft palate, Micropenis, Horseshoe kidne... |
OMIM:248340 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Cataract, Submucous cleft hard palate, Cleft palate, Failure of eruption of ... |
ORPHA:2250 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Dental crowding, Urinary incontinence, Cleft hard palate, Abnormal pupil morphology, Calcaneovalg... |
ORPHA:261552 |
Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Respiratory insufficiency due to muscle weakness, Achilles tendon contracture, F... |
OMIM:310200 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to... |
ORPHA:989 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Protruding tongue, Atelectasis, Flexion contracture, Respiratory insufficiency, ... |
ORPHA:258 |
Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati... |
ORPHA:70588 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent respiratory infections, Renal insufficiency, Abnormal acetabulum morphology, Apnea, Hyp... |
ORPHA:397715 |
Cousin Syndrome |
|
Prominent protruding coccyx, Microcornea, Hypoplastic iliac wing, Clinodactyly of the 5th finger,... |
OMIM:260660 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Osteopenia, Osteomyelitis, Recurrent... |
ORPHA:2314 |
Joubert Syndrome 17 |
|
Hyperventilation, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Charge Syndrome |
|
Abnormal palmar dermatoglyphics, Hand monodactyly, Coloboma, Pulmonary artery atresia, Micropenis... |
OMIM:214800 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Proximal placement of thumb, Absent radius, Esophageal atresia, Tracheoesophageal ... |
OMIM:314390 |
Myhre Syndrome |
|
Epispadias, Short palm, Large iliac wing, Bifid uvula, Abnormal penis morphology, Hypospadias, Ab... |
ORPHA:2588 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Dental crowding, Flexion contracture, Stage 5 chronic kidney disease, H... |
OMIM:608612 |
Congenital Sialidosis Type 2 |
|
Cataract, Corneal opacity, Protruding tongue, Respiratory tract infection, Gingival overgrowth, D... |
ORPHA:93400 |
Joubert Syndrome 37 |
|
Postaxial polydactyly, High palate, Micropenis, Hydronephrosis, Joint hypermobility |
OMIM:619185 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Hypospadia... |
ORPHA:209905 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Cataract, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, High, narrow... |
OMIM:209900 |
Meckel Syndrome, Type 5 |
|
Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Renal cyst, ... |
OMIM:611561 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Malrotation of colon, Abnormal ossification involving the femoral head a... |
ORPHA:1190 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Femoral bowing, Abnorm... |
ORPHA:2563 |
Farber Disease |
|
Respiratory distress, Corneal opacity, Nodular pattern on pulmonary HRCT, Abnormality of the hand... |
ORPHA:333 |
Snakebite Envenomation |
|
Epistaxis, Respiratory failure, Respiratory paralysis, Gingival bleeding, Acute kidney injury |
ORPHA:449285 |
Melnick-Needles Syndrome |
|
Tibial bowing, Ureteral stenosis, Cone-shaped epiphyses of the phalanges of the hand, Short clavi... |
OMIM:309350 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnor... |
ORPHA:420741 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal stomach morphology, Atelectasis, ... |
ORPHA:2357 |
Rhombencephalosynapsis |
|
Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Polydact... |
ORPHA:59315 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Remnants of the hyaloid vascular system, Cleft upper lip, Preaxial polydactyly, Preax... |
OMIM:603671 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, ... |
OMIM:620076 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Acute kidney injury, Decreased urine... |
ORPHA:542323 |
Retinitis Pigmentosa 89 |
|
Esophageal varix, Postaxial polydactyly |
OMIM:618955 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxi... |
OMIM:263520 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Single transverse palmar crease, High, narrow palate, Coloboma, Short philtrum, High palate, Chor... |
OMIM:619475 |
Mowat-Wilson Syndrome |
|
Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneovalgus deformity, Flexion contr... |
ORPHA:2152 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod... |
OMIM:609638 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Rieger anomaly, Tented upper lip vermilion, Tapered finger, Long fingers, Calcaneovalgus deformit... |
ORPHA:521445 |
Nance-Horan Syndrome |
|
Diastema, Developmental cataract, Microcornea, Mulberry molar, Posterior Y-sutural cataract, Broa... |
OMIM:302350 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Syndactyly, Hamartoma of tongue, Cleft upper lip, Supernumerary to... |
OMIM:311200 |
Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
Orofaciodigital Syndrome Type 1 |
|
Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Fing... |
ORPHA:2750 |
Frank-Ter Haar Syndrome |
|
Osteopenia, High palate, Short palm, Megalocornea, Short phalanx of finger, Cortical irregularity... |
OMIM:249420 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Delayed eruption of teeth, Short metacarpal, Brachydactyly, Unilateral renal agenesis, Neonatal e... |
OMIM:101800 |
Raine Syndrome |
|
Micromelia, High palate, Neonatal death, Microdontia, Long hallux, Death in infancy, Increased bo... |
OMIM:259775 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Knee flexion contracture, High pala... |
ORPHA:3103 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of perman... |
OMIM:616894 |
Wiedemann-Steiner Syndrome |
|
Joint laxity, Thin upper lip vermilion, Exaggerated cupid's bow, Tapered finger, Contracture of t... |
OMIM:605130 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Respiratory failure, Hydronephrosis |
OMIM:607598 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormal morphology of the radius, Renal insufficiency, Median cleft lip, Radial club hand, Cleft... |
ORPHA:2165 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:607625 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Joint stiffness, Non-midlin... |
ORPHA:1300 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial... |
OMIM:617088 |
Silver-Russell Syndrome |
|
Sandal gap, Dental crowding, Hypospadias, Upper limb asymmetry, Downturned corners of mouth, Abno... |
ORPHA:813 |
Cranioectodermal Dysplasia 2 |
|
Renal cyst, Fused teeth, High palate, Widely spaced teeth, Microdontia, Joint laxity, Syndactyly,... |
OMIM:613610 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Clinodactyly of the 5th finger, Iri... |
ORPHA:1587 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Renal insufficiency, Proteinuria, Recurrent fractures, Osteomalacia, Rickets, Hyperca... |
OMIM:613388 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Patellar hypoplasia, High palate, Microdontia, Juvenile cataract, Short phalanx of fi... |
ORPHA:221016 |
Joubert Syndrome 14 |
|
Tented upper lip vermilion, Postaxial polydactyly, Cleft palate, Renal cyst, Coloboma, Short phil... |
OMIM:614424 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly |
OMIM:605231 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Dental crowding, Single transverse palmar crease, High, narrow palate, Flex... |
OMIM:180849 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Respiratory failure |
ORPHA:363400 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplasia, Cutaneous sy... |
OMIM:617666 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure, Acute kidney injury |
ORPHA:330021 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Apnea, Rocker bottom foot, Single transverse palmar crease, Postaxial... |
OMIM:617527 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, High palate, Wid... |
OMIM:143095 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Intestinal malrotation, Tachypnea, Esophageal varix, Abnormal pulmonary... |
OMIM:613658 |
Spondylocarpotarsal Synostosis Syndrome |
|
Coxa vara, Renal cyst, Clinodactyly of the 5th finger, Vertebral fusion, Scapular winging, Short ... |
OMIM:272460 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Joint laxity, Death in infancy, Sandal gap, Single transverse palmar crease, Atelecta... |
OMIM:613177 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Postaxial hand polydactyl... |
ORPHA:2752 |
Lenz-Majewski Hyperostotic Dwarfism |
|
High, narrow palate, Epispadias, Abnormal finger morphology, Symphalangism affecting the phalange... |
ORPHA:2658 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Death in infancy, Pierre-Robin sequence, Elbow flexion contracture, Broad palm, ... |
OMIM:300868 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Cleft palate, Unilateral cleft lip... |
OMIM:610828 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie... |
ORPHA:365 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Short toe, Asthma, Cone-shaped epiphyses of the phalanges of the hand, Hydronephrosis... |
OMIM:619269 |
Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
Fryns Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Single transverse palmar crease, Proximal place... |
OMIM:229850 |
Boutonneuse Fever |
|
Abnormal skin morphology of the palm, Respiratory failure, Renal insufficiency |
ORPHA:83313 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Hyperphosphaturia, Rickets, Hypercalciuria, Generalized ami... |
ORPHA:2088 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Narrow greater sciatic notch, Short phalanx of finger, Broad metacarpals,... |
ORPHA:508533 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Polyuria, Osteoporosis, Rickets, Death in adolescence, Proximal tubulopathy, Death in childhood |
OMIM:560000 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory failure, Respiratory insufficiency, Equinus calcaneus |
ORPHA:746 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Apnea, Osteopathia striata, Craniofacial osteosclerosis, High palate, Clinodacty... |
OMIM:300373 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsa... |
ORPHA:2473 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... |
ORPHA:221120 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary in... |
OMIM:620233 |
Proboscis Lateralis |
|
Cataract, Corneal opacity, Unilateral renal agenesis, Agenesis of canine, Optic disc coloboma, Or... |
ORPHA:141099 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure |
OMIM:610678 |
Amyotrophic Lateral Sclerosis |
|
Dyspnea, Respiratory failure, Xerostomia, Abnormal respiratory system physiology |
ORPHA:803 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure |
ORPHA:98755 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Respiratory failure |
ORPHA:3226 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Joint laxity, Calcaneovalgus deformity |
OMIM:225320 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Enuresis nocturna, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced... |
OMIM:615873 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Cataract, Palmar pits, Narrow mout... |
ORPHA:77301 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Respiratory insufficiency, Res... |
OMIM:613845 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Flexion contracture... |
OMIM:210710 |
Marfan Syndrome |
|
Dental crowding, Equinus calcaneus, Flexion contracture, Hypoplasia of the iris, High palate, Emp... |
OMIM:154700 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Colo... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Colo... |
ORPHA:352665 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Downturned corners of mouth, Short philtrum, Emphysema, Bifid uvula, Ar... |
ORPHA:500150 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Respiratory failure, Cataract, Limb joint contracture, Hydronephrosis |
OMIM:620327 |
Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
Mesomelia-Synostoses Syndrome |
|
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Absent uvu... |
OMIM:600383 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... |
ORPHA:563 |
Renal Tubular Acidosis Iii |
|
Osteomalacia, Rickets, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis |
OMIM:267200 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Epistaxis, Wheezing, Rickets, Fat malabsorption |
OMIM:211600 |
Keutel Syndrome |
|
Sinusitis, Miscarriage, Recurrent bronchitis, Short hallux, Premature fusion of phalangeal epiphy... |
OMIM:245150 |
Kid Syndrome |
|
Angular cheilitis, Lip fissure, Coxa valga, Equinus calcaneus, Abnormality of the dentition, Kera... |
ORPHA:477 |
Nocardiosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Productive cough, Keratitis, Nonproductive cough,... |
ORPHA:31204 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Postaxial polydactyly, Unilateral renal agenesis, Esophageal varix, Hip dysplas... |
OMIM:614576 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Bowing of the legs, Anteriorly placed anus, High palate, Vesicoureteral reflu... |
OMIM:617063 |
Branchiooculofacial Syndrome |
|
Cataract, Hypospadias, Single transverse palmar crease, Proximal placement of thumb, Cleft upper ... |
OMIM:113620 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,... |
OMIM:615989 |
Meckel Syndrome, Type 6 |
|
Cleft upper lip, Postaxial hand polydactyly, Bilobed right lung, Cleft palate, Renal cyst, Postax... |
OMIM:612284 |
Chime Syndrome |
|
Abnormal dental morphology, Corneal opacity, Aplastic clavicle, Abnormality of the dentition, Sup... |
ORPHA:3474 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Abnormal lung lobation, Renal cyst, Narrow greater sciatic notch, Short palm, Exaggerated median ... |
OMIM:312870 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Swollen lip, Cleft ... |
OMIM:256520 |
Bartsocas-Papas Syndrome 1 |
|
Ectopic kidney, Flexion contracture, Hypoplastic iliac wing, Micropenis, Pterygium, Short phalanx... |
OMIM:263650 |
Au-Kline Syndrome |
|
Overlapping toe, Postaxial polydactyly, Coxa valga, Sagittal craniosynostosis, Craniosynostosis, ... |
OMIM:616580 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Respiratory distress, Congenital hip dislocation, Abnormal periodontium morphology, H... |
ORPHA:480880 |
Sarcoidosis, Susceptibility To, 1 |
|
Cough, Dyspnea, Iridocyclitis, Emphysema, Clubbing, Bronchiectasis, Abnormal pulmonary interstiti... |
OMIM:181000 |
Oculo-Palato-Cerebral Syndrome |
|
Cataract, Remnants of the hyaloid vascular system, High, narrow palate, Asthma, Small hand, Leuko... |
ORPHA:2714 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Death in childhood, Respiratory failure, Micropenis |
OMIM:619847 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Corneal opacity, Malabsorption, Rickets, Renal tubular dysfunct... |
ORPHA:213 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Corneal opacity, Bone cyst, Osteolysis, Pulmonary arterial hypertensio... |
ORPHA:2396 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Nephrocalcinosis, Distal renal tubular acidosis, Rickets, Hypercalciuria |
OMIM:602722 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... |
OMIM:600373 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone mo... |
OMIM:302960 |
Joubert Syndrome 21 |
|
Apnea, Dyspnea, Renal cyst, Respiratory failure, Short ribs, Pulmonary hypoplasia, Chronic sinusitis |
OMIM:615636 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Renal insufficiency, Limited elbow movement, Pyloric ste... |
OMIM:218040 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Respiratory failure, Paroxysmal dyspnea |
ORPHA:444013 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma... |
OMIM:134600 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Renal cyst |
OMIM:109130 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Osteomalacia, Distal renal tubular acidosis, Nephrolithiasis, Nep... |
OMIM:179800 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Neonatal respiratory distress, Multicystic kidney dysplasia, Tracheomalacia, Po... |
ORPHA:1393 |
Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Osteopenia, Short metacarpal, Abnormal trabecular bone morphology, Juv... |
ORPHA:221008 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Micromelia, Optic disc coloboma, Hypoplasia of the iris, Short phalanx of finge... |
OMIM:600092 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Short toe, Short phalanx of finger, Type E brachydactyly |
OMIM:600430 |
Mend Syndrome |
|
Cataract, Overlapping toe, Broad hallux, Long fingers, 2-3 toe syndactyly, Polydactyly, High pala... |
OMIM:300960 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Abnormal lung lobation, Micropenis, Bifid uvula, Mesoaxial polydactyly, Radial bo... |
ORPHA:672 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Single transverse palma... |
OMIM:303600 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Iris coloboma, Chorioretinal coloboma |
OMIM:615219 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Hypoplasia of penis, Micromelia, Aplasia of the ulna, Hi... |
ORPHA:2879 |
Nicolaides-Baraitser Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Short metatarsal, P... |
OMIM:601358 |
Culler-Jones Syndrome |
|
Cleft palate, Micropenis, Postaxial polydactyly, Cleft upper lip |
OMIM:615849 |
Malignant Atrophic Papulosis |
|
Intestinal fistula, Cataract, Intestinal perforation, Respiratory failure, Pleural effusion |
ORPHA:679 |
Bloom Syndrome |
|
Pneumonia, Bronchitis, Respiratory tract infection, Esophageal neoplasm, Chronic pulmonary obstru... |
ORPHA:125 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cataract, Abnormal hand morphology, Small hand, Broad finger, Long philtrum, Short phalanx of finger |
OMIM:300845 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Rickets, Steatorrhea |
OMIM:607748 |
Leigh Syndrome |
|
Multiple joint contractures, Cataract, Lacticaciduria, Methylmalonic aciduria, Generalized aminoa... |
ORPHA:506 |
Bardet-Biedl Syndrome 20 |
|
Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, Asthma, 2-3 toe syndactyly, Astig... |
OMIM:619471 |
Lowe Oculocerebrorenal Syndrome |
|
Wrist swelling, Bicarbonaturia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight prote... |
OMIM:309000 |
Frontofacionasal Dysplasia |
|
Cataract, Cleft upper lip, Orofacial cleft, Microcornea, Bifid uvula, Iris coloboma |
OMIM:229400 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Cataract, Aganglionic megacolon, Pulmonary artery sling, Hypospadias, ... |
OMIM:235730 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Coloboma, High palate, Vesicoureteral reflux, Aspiration, Joint laxity, Syndacty... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Coloboma, High palate, Vesicoureteral reflux, Aspiration, Joint laxity, Syndacty... |
ORPHA:353277 |
X-Linked Intellectual Disability, Hedera Type |
|
Hyporeflexia of upper limbs, Calcaneovalgus deformity |
ORPHA:93952 |
Mccune-Albright Syndrome |
|
Hyperphosphaturia, Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Dental malo... |
ORPHA:562 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micropenis, Humeroradial synostosis, Rib fusion,... |
OMIM:134780 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
Chand Syndrome |
|
Short fifth metatarsal, Hydroureter, Atelectasis, Cleft palate, Agenesis of permanent teeth, Abno... |
ORPHA:1401 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Recurrent respiratory infections, Short humerus, Short femur, Apnea, Hyposp... |
ORPHA:17 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... |
OMIM:618278 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... |
OMIM:149730 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum |
OMIM:140850 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Polydactyly, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:616307 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Cataract, Apnea, Hypopnea, Respiratory failure, 3-Methylglutaric aciduria, 3-Me... |
OMIM:617248 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira... |
OMIM:615512 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Hypospadias, Unilater... |
ORPHA:464306 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Distal renal tubular acidosis, Rickets, Nephrocalcinosis |
OMIM:611590 |
Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Anal stenosis, Deep philtru... |
ORPHA:647 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Postaxial polydactyly, Clinodactyly, Triangular... |
OMIM:618460 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Respiratory failure, Death in childhood |
OMIM:617186 |
Joubert Syndrome 39 |
|
Hypopnea, Polycystic kidney dysplasia, Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Abnormal cornea morphology, Chronic rhini... |
OMIM:244400 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure, Shoulder girdle muscle weakness |
ORPHA:206436 |
Orofaciodigital Syndrome Xiv |
|
Natal tooth, Broad hallux, Hamartoma of tongue, Cleft lip, Postaxial hand polydactyly, Supernumer... |
OMIM:615948 |
Faciocardiomelic Syndrome |
|
Osteopenia, Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis, ... |
OMIM:612731 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
Degcags Syndrome |
|
Osteopenia, Bilateral renal hypoplasia, High palate, Syndactyly, Hypospadias, Hiatus hernia, Shor... |
OMIM:619488 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Prominent calcaneus, Open mouth, Congenital foot contractures |
ORPHA:565624 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Chorioretinal hyperpigmentation, Respiratory failure, 3-Methylglutaconic aciduria, Respiratory in... |
OMIM:618329 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Anuria, Proteinuria, Pneumonia, Epistaxis, Glomerulonephritis, Dyspnea, Chr... |
ORPHA:340 |
Constricting Bands, Congenital |
|
Syndactyly, Cleft upper lip, Abnormal lung lobation, Cleft palate, Hand polydactyly, Talipes equi... |
OMIM:217100 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Osteomalacia, Hypocitraturia, Respiratory insufficiency due to muscle weakness... |
ORPHA:18 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Anteriorly placed anus, High palate, Spina bifida oc... |
OMIM:218600 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure, Osteopetrosis |
ORPHA:3240 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Renal phosphate wasting, Rickets, Rachitic rosary |
OMIM:612089 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Thin upper lip vermilion, Central apnea, Progressive flexion contractures, Equinus ... |
ORPHA:522077 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Myoglobinuria, Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure, Abnormality of the dentition |
ORPHA:88618 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Cataract, Recurrent fractures, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndrome, G... |
OMIM:268315 |
Cystinosis, Nephropathic |
|
Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hy... |
OMIM:219800 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Cleft lip, Cleft palate, Submucous cleft of soft and hard palate, Polyd... |
OMIM:301022 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Increased density of long bones, Single transverse palmar crease, Hypospadias,... |
OMIM:269150 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Coxa vara, Knee flexi... |
OMIM:614976 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Tachypnea, Anomalous pulmonary venous return,... |
ORPHA:555874 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Proximal renal tubular acidosis, Postaxial polydactyly |
OMIM:615824 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Hypospadias, Cleft upper lip, Absent pulmonary artery, Split hand, Clubbing, Cleft palate, Death ... |
OMIM:600460 |
Abetalipoproteinemia |
|
Osteopenia, Respiratory failure, Keratoconjunctivitis sicca, Talipes equinovarus, Steatorrhea, Fa... |
ORPHA:14 |
Rabson-Mendenhall Syndrome |
|
Dental crowding, Abnormality of the dentition, Long penis, Gingival overgrowth, Furrowed tongue, ... |
ORPHA:769 |
Holoprosencephaly 2 |
|
Cyclopia, Remnants of the hyaloid vascular system, Submucous cleft hard palate, Bilateral cleft l... |
OMIM:157170 |
Listeriosis |
|
Respiratory distress, Stiff neck, Osteomyelitis, Pneumonia, Miscarriage, Pyelonephritis, Respirat... |
ORPHA:533 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Respiratory failure, Cataract |
OMIM:616538 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Poliomyelitis |
|
Paralytic ileus, Respiratory failure requiring assisted ventilation, Respiratory failure, Stiff neck |
ORPHA:2912 |
Vater/Vacterl Association |
|
Syndactyly, Hypospadias, Ectopic kidney, Absent radius, Short thumb, Esophageal atresia, Hypoplas... |
OMIM:192350 |
22Q11.2 Deletion Syndrome |
|
Abnormal lung lobation, Short philtrum, Vesicoureteral reflux, Arachnodactyly, Abnormal dental en... |
ORPHA:567 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Postaxial polydactyly, Knee flexion contracture |
OMIM:603387 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Conical tooth, Ectopic kidney, Prominent interphalangeal joints,... |
OMIM:135900 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Rickets, Renal cyst, Steatorrhea, Fat malabsorption |
ORPHA:79303 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood |
OMIM:610505 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Renal insufficiency, Spontaneous pneumothorax, Recurrent pneumonia, Esophageal v... |
ORPHA:731 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Death in infancy, Apnea, Hypospadias, Lacticaciduria, Respiratory... |
OMIM:252010 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Multiple joint contractures, Metaphyseal widening, D-2-hydroxyglutaric acid... |
ORPHA:99646 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Renal insufficiency, Respiratory tract infection, Chronic kidney disease, S... |
ORPHA:805 |
Elsahy-Waters Syndrome |
|
Anteriorly placed anus, Cutaneous finger syndactyly, High palate, Megalocornea, Bifid uvula, Peno... |
OMIM:211380 |
Loeys-Dietz Syndrome 2 |
|
Joint laxity, Syndactyly, Arachnodactyly, Spontaneous pneumothorax, Protrusio acetabuli, Postaxia... |
OMIM:610168 |
Relapsing Polychondritis |
|
Renal insufficiency, Cataract, Proteinuria, Keratitis, Atelectasis, Dyspnea, Limitation of joint ... |
ORPHA:728 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Cataract, Sclerocornea, Thin vermilion border, High palate, Polydactyly, Vesicoureter... |
OMIM:619869 |
Okamoto Syndrome |
|
Ureteropelvic junction obstruction, Exaggerated median tongue furrow, Anal stenosis, Tented upper... |
ORPHA:2729 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Corneal crystals, Rickets, Stage 5 chronic kidney disease, Proteinuria |
OMIM:219900 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Osteomalacia, Malabsorption, Rickets, Hypercalciuria, ... |
OMIM:227810 |
Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma |
ORPHA:42775 |
Celiac Disease, Susceptibility To, 1 |
|
Celiac disease, Osteoporosis, Rickets, Recurrent aphthous stomatitis, Steatorrhea, Stomatitis, En... |
OMIM:212750 |
Retinitis Pigmentosa 74 |
|
Posterior polar cataract, Polydactyly |
OMIM:616562 |
Legius Syndrome |
|
Cataract, Non-small cell lung carcinoma, Nephrolithiasis, Diaphyseal dysplasia, Polydactyly, Male... |
ORPHA:137605 |
Primary Fanconi Renotubular Syndrome |
|
Osteomalacia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure |
ORPHA:280210 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Rickets, Nephrocalcinosis, Aminoaciduria, Glycosuria |
OMIM:616026 |
Craniorachischisis |
|
Bifid sternum, Anal atresia, Sirenomelia |
ORPHA:63260 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Abnormal urinary color, Atelectasis, Dyspnea, Pneumothorax, Ren... |
ORPHA:538 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Renal corticomedullary cysts, Postaxial polydactyly |
OMIM:219730 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Abnormal penis morphology, Hypospadias, Abnormal dental enamel morphology, ... |
ORPHA:2556 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Hip dysplasia, Clinodactyly of th... |
ORPHA:457284 |
Steinert Myotonic Dystrophy |
|
Respiratory failure requiring assisted ventilation, Tented upper lip vermilion, Intestinal pseudo... |
ORPHA:273 |
Linear Nevus Sebaceus Syndrome |
|
Iris coloboma |
ORPHA:2612 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Recurrent respiratory infections, Anomaly of lower limb diaphyses, Joint lax... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Recurrent respiratory infections, Anomaly of lower limb diaphyses, Joint lax... |
ORPHA:363958 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly, Intermittent hyperventilation |
ORPHA:163681 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Fat malabsorption, Rickets, Steatorrhea |
OMIM:607765 |
Roberts-Sc Phocomelia Syndrome |
|
Tetraphocomelia, Knee flexion contracture, Coloboma, High palate, Phocomelia, Wrist flexion contr... |
OMIM:268300 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Osteomalacia, Peptic ulcer, Parathormone-independent increased renal tubular... |
OMIM:600740 |
Wilson Disease |
|
Hyperphosphaturia, Proteinuria, Osteomalacia, Osteoarthritis, Esophageal varix, Osteoporosis, Nep... |
OMIM:277900 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Arteriosclerosis, Severe Juvenile |
|
Hip dysplasia, Gastric ulcer, Short phalanx of finger, Chronic kidney disease |
OMIM:208060 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Coloboma, Neonatal death, Syndactyly, Broad first metatarsal, Pulmonary artery dilata... |
OMIM:619534 |
Whim Syndrome |
|
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... |
ORPHA:51636 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Flexion ... |
OMIM:601803 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Renal insufficiency, Stiff neck, Crackles, Atelectasis, Nonproductive cough... |
ORPHA:319213 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Rickets, Corneal crystals, Renal tubular dysfunction, Glycosuria, Aminoaciduri... |
ORPHA:411629 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Rickets, Osteoporosis, Keratoconjunctivitis sicca, Colitis, Steatorrhea |
ORPHA:309031 |
Zygomycosis |
|
Renal insufficiency, Sinusitis, Gastritis, Epistaxis, Atelectasis, Pneumothorax, Enterocolitis, O... |
ORPHA:73263 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Multicysti... |
OMIM:606170 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory failure, Patent urachus, Death in childhood |
OMIM:618252 |
Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Delayed eruption of teeth, Broad hallux, Dental crowding, Sagittal craniosynostosi... |
OMIM:614188 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Hyperphosphaturia, Choroidal neovascularization, Osteomalacia, Stippled cal... |
ORPHA:51608 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Osteomyelitis, Duodenal ulcer, Pneumonia, Bronchitis, Gastritis, Osteomalacia, O... |
OMIM:619381 |
Niemann-Pick Disease Type C |
|
Abnormal lung morphology, Respiratory failure, Respiratory insufficiency, Aspiration pneumonia |
ORPHA:646 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Osteomalacia, Peptic ulcer, Parathormone-independent increased renal tubular cal... |
ORPHA:405 |
Digeorge Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Sclerocornea, Atelectasis, High, narrow palate, R... |
OMIM:188400 |
Granulomatous Disease, Chronic, X-Linked |
|
Osteomyelitis, Atelectasis, Recurrent pneumonia, Rectal abscess, Cough, Pleural effusion |
OMIM:306400 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Polydactyly, Osteoporosis of vertebrae, Abnormal digit morphology, Median cleft lip a... |
ORPHA:95494 |