| Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
| Carnitine Deficiency, Myopathic |
|
Myopathy, Reduced muscle carnitine level |
OMIM:212160 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... |
OMIM:615424 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
| Nonaka Myopathy |
|
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... |
OMIM:605820 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
| Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... |
OMIM:608423 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
| Myopathy, Distal, Tateyama Type |
|
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
| Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:619733 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Exercise intolerance, Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ra... |
ORPHA:457050 |
| Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... |
OMIM:616199 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
| Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy |
OMIM:609273 |
| Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... |
ORPHA:603 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... |
OMIM:254110 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... |
OMIM:618129 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... |
OMIM:620235 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaph... |
OMIM:300232 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Micrognathia, Short neck, Hemivert... |
ORPHA:958 |
| Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... |
OMIM:601846 |
| Fibrochondrogenesis 1 |
|
Short neck, Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th fi... |
OMIM:228520 |
| 3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... |
ORPHA:2616 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy |
OMIM:208100 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Polyhydramnios, Micrognathia, E... |
OMIM:312150 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... |
OMIM:612999 |
| Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
| Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
| Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
| Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting |
OMIM:609524 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617760 |
| Three M Syndrome 1 |
|
Mandibular prognathia, Joint dislocation, Short neck, Increased vertebral height, Clinodactyly of... |
OMIM:273750 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra... |
OMIM:224300 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... |
OMIM:618823 |
| Schneckenbecken Dysplasia |
|
Polyhydramnios, Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Nonimmune hydro... |
OMIM:269250 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Polyhydramnios, Micrognathia, E... |
OMIM:253290 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
| Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal r... |
ORPHA:2345 |
| Three M Syndrome 2 |
|
Short neck, Pectus carinatum, High palate, Intrauterine growth retardation, Long philtrum, Scapul... |
OMIM:612921 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... |
OMIM:619178 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
| Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Coxa vara, Gl... |
ORPHA:1452 |
| Congenital Myopathy 22B, Severe Fetal |
|
Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Polyhydramnios, Micrognathia, Sh... |
OMIM:620369 |
| Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... |
OMIM:609200 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... |
OMIM:158600 |
| Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pe... |
OMIM:223800 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy |
OMIM:212130 |
| Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
| Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
| Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
| Acetyl-Coa Carboxylase Deficiency |
|
Myopathy |
OMIM:613933 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... |
OMIM:613530 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Nonimmune hydrops fetalis, Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Plagiocephaly... |
OMIM:618265 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy, Recurrent fractures, Polyhydramnios, Micrognathia, Short neck, Limitatio... |
ORPHA:1486 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
| Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
| Oculopharyngeal Muscular Dystrophy |
|
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology |
ORPHA:270 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thin upper lip vermilion, Thoracolumbar scoliosis, Micrognathia, Short neck, Flexion contracture,... |
OMIM:616549 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Abs... |
OMIM:305620 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Mi... |
OMIM:602471 |
| Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... |
OMIM:616228 |
| Congenital Myopathy 18 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... |
OMIM:620246 |
| Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
| Myopathy, Centronuclear, 4 |
|
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Meta... |
OMIM:182212 |
| Osteogenesis Imperfecta, Type Iii |
|
Frontal bossing, Wormian bones, Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple ... |
OMIM:259420 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Frontal bossing, Inguinal hernia, Long clavicles, Diastasis recti, Polyhydramnios, M... |
OMIM:608149 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Micrognathia, Short neck, Knee flexion contracture, Femoral bowing, Tibial bowin... |
OMIM:601559 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Myopathy |
ORPHA:206599 |
| Bethlem Myopathy 1 |
|
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... |
OMIM:158810 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
| Acrorenal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplas... |
OMIM:200980 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Hypoplastic scapulae, Generalized dystonia, Femoral retroversion, Micro... |
ORPHA:79107 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Short neck, Metaphyseal widening, Flexion contracture, Delayed proximal femoral epi... |
OMIM:271640 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Polyhydramnios, Micromelia, Short thorax, Abnorma... |
ORPHA:85166 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Hypoplasia of the mus... |
ORPHA:2463 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Camptodactyly of finger, Rocker bottom foot, Micrognathia, Kyphoscoliosis, Adducted thumb, Elbow ... |
OMIM:610758 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Abnormal dental morphology, Malar prominence, Pectus excavatum, Mic... |
ORPHA:2522 |
| Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Frontal bossing, Turricephaly, Osteopenia, Wide cranial sutures, Recurrent fra... |
OMIM:616294 |
| Catel-Manzke Syndrome |
|
Camptodactyly of finger, Micrognathia, Pectus excavatum, Metatarsus valgus, Joint stiffness, Radi... |
ORPHA:1388 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:611705 |
| Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy |
OMIM:606768 |
| Scarf Syndrome |
|
Inguinal hernia, Diastasis recti, Craniosynostosis, Short neck, Abnormal form of the vertebral bo... |
ORPHA:3134 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion c... |
OMIM:265000 |
| Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
| Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flat glenoid fos... |
OMIM:224690 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... |
OMIM:181400 |
| Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Edema of the dorsum of hands, Increased co... |
ORPHA:171430 |
| Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... |
OMIM:607326 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Metaphyseal widening, Death in childhood, Progressive alveolar ridge hy... |
OMIM:252500 |
| Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, S... |
OMIM:119600 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Death in infancy, Polyhydramnios, Centrally nucleated skeletal muscle fibers, Thin ribs, Myopathy... |
OMIM:300219 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Polyhydramnios, Beaded ribs, Bowing of the legs, Micromel... |
OMIM:200600 |
| Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Wide anterior... |
ORPHA:2021 |
| Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
| Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Tibial bowing, Short pal... |
OMIM:601812 |
| Cousin Syndrome |
|
Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... |
OMIM:260660 |
| Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Lateral clavicle hook, Hypoplasia of the... |
OMIM:600920 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Redundant neck skin, Tented upper lip vermilion, Polyhydramnios, Micrognat... |
ORPHA:96334 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Frontal bossing, Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal ... |
ORPHA:163966 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Polyhydramnios, Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhiz... |
OMIM:151210 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Atelosteogenesis, Type I |
|
Polyhydramnios, Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narr... |
OMIM:108720 |
| Welander Distal Myopathy |
|
Distal amyotrophy, Rimmed vacuoles |
OMIM:604454 |
| Campomelic Dysplasia |
|
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Polyhydramnios, Micrognathia, Ce... |
OMIM:114290 |
| Anauxetic Dysplasia 3 |
|
Femoral bowing, Oligodontia, Narrow chest, Trident hand, Short metacarpal, Thoracolumbar kyphosco... |
OMIM:618853 |
| Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
| Thanatophoric Dysplasia, Type Ii |
|
Frontal bossing, Cloverleaf skull, Small abnormally formed scapulae, Polyhydramnios, Micromelia, ... |
OMIM:187601 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy... |
ORPHA:86812 |
| Mitochondrial Myopathy With Diabetes |
|
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or... |
OMIM:500002 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Micrognathia, Short neck, Flexion contracture, Hyperextensibility at wrists, Knee flexion contrac... |
ORPHA:75840 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Skeletal muscle atrophy, Rocker bottom foot, Polyhydramnios, Micrognathia, Shor... |
OMIM:618393 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Decreased muscle mass, Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal f... |
ORPHA:73230 |
| Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Brachycephaly,... |
OMIM:234100 |
| Scarf Syndrome |
|
Barrel-shaped chest, Inguinal hernia, Diastasis recti, Short neck, Abnormal form of the vertebral... |
OMIM:312830 |
| Thanatophoric Dysplasia, Type I |
|
Polyhydramnios, Short neck, Femoral bowing, Narrow chest, Neonatal death, Cloverleaf skull, Small... |
OMIM:187600 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Frontal bossing, Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Microg... |
ORPHA:440354 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Syndactyly, Brachydactyly, Lumbar hyperlordosis, Inguinal hernia, Ovoid vertebral b... |
OMIM:619451 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy |
ORPHA:2579 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Delayed skeletal ma... |
ORPHA:3268 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... |
OMIM:605355 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i... |
ORPHA:457395 |
| Pelviscapular Dysplasia |
|
Frontal bossing, Redundant neck skin, Hypoplastic scapulae, Congenital hip dislocation, Short fem... |
ORPHA:93333 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Congenital diaphragmatic hernia, Micrognathia, Short neck, Accelerated skeletal matur... |
OMIM:245600 |
| Tarp Syndrome |
|
Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hypoplasia of the radi... |
OMIM:311900 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing... |
OMIM:613848 |
| Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Dental crowding, Polyhydramnios, Brachycephaly, Pectus carinatum, Downturn... |
OMIM:618371 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Thin upper lip vermilion, Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped dis... |
ORPHA:370010 |
| Craniofrontonasal Dysplasia |
|
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Brachycephaly, Orofacial cleft, Hi... |
ORPHA:1520 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A... |
OMIM:602196 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Miscarriage, Polyhydramnios, Centrally nucleated skeleta... |
ORPHA:169189 |
| Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
| Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Micrognathia... |
ORPHA:536516 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... |
OMIM:210720 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Micromelia, Hydrops fetalis, Fused teeth, Thoracic dysplasia, Narrow ches... |
OMIM:614091 |
| Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... |
OMIM:160565 |
| Weaver Syndrome |
|
Finger syndactyly, Inguinal hernia, Sandal gap, Camptodactyly of finger, Redundant skin, Microgna... |
ORPHA:3447 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
| Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal... |
OMIM:602535 |
| Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Micrognathia, Proximal placement of thumb, High, narrow palate, ... |
OMIM:122470 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... |
OMIM:620386 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Brachycephaly, Abnormal form of the vertebral bodies, Pectus carinatum, Do... |
ORPHA:1327 |
| Osteoglophonic Dysplasia |
|
Mandibular prognathia, Osteopenia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt... |
OMIM:166250 |
| Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... |
ORPHA:97240 |
| Bethlem Myopathy 2 |
|
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter |
OMIM:616471 |
| Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Post... |
OMIM:258850 |
| Frontometaphyseal Dysplasia |
|
Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Oligodontia, Spina ... |
ORPHA:1826 |
| Klhl9-Related Early-Onset Distal Myopathy |
|
Ankle flexion contracture, Intrinsic hand muscle atrophy, Abnormality of the calf musculature, Am... |
ORPHA:399081 |
| Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... |
ORPHA:266 |
| Fetal Akinesia Deformation Sequence 1 |
|
Decreased muscle mass, Elbow contracture, Polyhydramnios, Micrognathia, Short neck, High, narrow ... |
OMIM:208150 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac... |
ORPHA:536471 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip... |
OMIM:618395 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Micrognathia, Absent middle phalanx of 3rd fin... |
OMIM:308050 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
| Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal ti... |
ORPHA:666 |
| Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, General... |
ORPHA:2790 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... |
OMIM:617066 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Frontal bossing, Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis,... |
OMIM:311895 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
| Lamb-Shaffer Syndrome |
|
Micrognathia, Optic atrophy, Fused cervical vertebrae, Hip dysplasia, Thick vermilion border, Tho... |
ORPHA:530983 |
| Nestor-Guillermo Progeria Syndrome |
|
Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro... |
OMIM:614008 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Wormian bones, Nonimmune hydrops fetalis, Recurrent fractu... |
OMIM:166210 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w... |
OMIM:619216 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred... |
ORPHA:424107 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... |
OMIM:616924 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Rocker bottom foot, Micrognathia... |
OMIM:611890 |
| Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
| Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micrognathia, Micro... |
ORPHA:628 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Decreased mitochondrial number, Limb-girdle muscle weakness, Myopath... |
ORPHA:352470 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Redundant skin, Micrognathia, Short neck, Osteoarthritis, General... |
OMIM:618000 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Frontal bossing, Inguinal hernia, Congenital hip dislocation, Wide cranial sutures, Pectus excava... |
OMIM:219150 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... |
ORPHA:1145 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... |
OMIM:612937 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Congenital muscular torticollis, Short neck, Abnormal rib morphology, Cleft palate, Scoliosis, Ce... |
OMIM:118100 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Ulnar bowing, Corona... |
OMIM:620076 |
| Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Ingui... |
OMIM:600325 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Polyhydramnios, Micrognathia, Wrist swelling, Limitation of joint mobili... |
ORPHA:2774 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Multiple prenatal fractures, Tibial bowing, Femoral bowing, Decreased skull ossificat... |
OMIM:610915 |
| Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... |
ORPHA:598 |
| Congenital Myopathy 3 With Rigid Spine |
|
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... |
OMIM:602771 |
| Short-Rib Thoracic Dysplasia 12 |
|
Edema, Polyhydramnios, Bowing of the legs, Short neck, Lobulated tongue, Thoracic dysplasia, Narr... |
OMIM:269860 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro... |
ORPHA:2839 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... |
ORPHA:166016 |
| Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... |
ORPHA:178400 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Delayed skelet... |
ORPHA:93324 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... |
OMIM:608099 |
| Donnai-Barrow Syndrome |
|
Omphalocele, Diaphragmatic eventration, Intestinal malrotation, Congenital diaphragmatic hernia, ... |
OMIM:222448 |
| Dystonia-Deafness Syndrome 1 |
|
Hypoplastic scapulae, Generalized dystonia, Oculogyric crisis, Femoral retroversion, Cleft upper ... |
OMIM:607371 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Frontal bossing, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ri... |
OMIM:300863 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... |
OMIM:620138 |
| Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Skeletal muscle atrophy, Limitation of joint mobility, Sacrococcygeal pilonidal abnormality, Hip ... |
ORPHA:2840 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... |
OMIM:253601 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Edema of the dorsum of hands, B... |
OMIM:274000 |
| Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... |
OMIM:608807 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
| Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Polyhydramnios, Centrally nucleated skeletal muscle fibers, Decreased nerve con... |
OMIM:615368 |
| Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Abnormality of ... |
OMIM:617952 |
| Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Redundant skin, Hypoplasia of the maxilla, Abnormal form of the vertebra... |
ORPHA:192 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy |
ORPHA:366 |
| Nemaline Myopathy 9 |
|
Polyhydramnios, Micrognathia, Cleft palate, High palate, Narrow chest, Scoliosis, Arthrogryposis ... |
OMIM:615731 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Brachydactyly, Flat occiput, Hyperlordosis, Pectus excavatum, Abnormal zyg... |
ORPHA:2511 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Hyperextensible skin, Joint contracture, Joint laxity, Increased susceptibility to fr... |
OMIM:615349 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Thin upper lip vermilion, Mic... |
OMIM:615419 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Frontal bossing, Decreased muscle mass, Congenital hip dislocation, Bowing of the lon... |
OMIM:612940 |
| Three M Syndrome 3 |
|
Frontal bossing, Short neck, Hyperlordosis, Increased vertebral height, Dolichocephaly, Short tho... |
OMIM:614205 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness... |
OMIM:611307 |
| Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Short neck, Delayed skeletal maturation, Thick lower ... |
OMIM:157980 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Decreased muscle mass |
OMIM:607091 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Polyhydramnios, Micrognathia, Beaded ribs, Short neck, Multiple prenatal fractures, F... |
OMIM:616897 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Micrognathia, Short neck, Brachycephaly, Downturned corners of mouth, High palate, Thoracic kypho... |
ORPHA:163649 |
| Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Short neck, Thick lower lip vermilion, Dental maloccl... |
ORPHA:2563 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Micrognathia, Knee flexion contracture, Pectus carinatum, Oligodontia, High palate, Clinodactyly ... |
OMIM:210730 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... |
OMIM:619477 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Polyhydramnios, Short neck, Flexion contracture, Brachycephaly, Downturned corners of mouth, Narr... |
OMIM:301041 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Kyphosis, Ankle clonus, High palate, Scoliosis, Joint contracture, Lower... |
OMIM:611225 |
| Rafiq Syndrome |
|
Joint laxity, Thin upper lip vermilion, Flat occiput, Joint hypermobility, Short neck, Flexion co... |
OMIM:614202 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... |
OMIM:606842 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I... |
ORPHA:276435 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... |
OMIM:605637 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Osteopenia, Macrodontia, Thoracolumbar kyphoscoliosis, Proximal placement ... |
OMIM:212066 |
| Legg-Calvé-Perthes Disease |
|
Joint dislocation, Skeletal muscle atrophy, Abnormality of the dentition, Cartilage destruction, ... |
ORPHA:2380 |
| Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo... |
OMIM:620310 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Flexion contracture, Brachycephaly, Femoral bowing, Anteriorly placed anus, ... |
ORPHA:95699 |
| Malan Overgrowth Syndrome |
|
Optic disc pallor, Frontal bossing, Accelerated skeletal maturation, Pectus excavatum, Scaphoceph... |
ORPHA:420179 |
| Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1... |
ORPHA:171442 |
| Whistling Face Syndrome, Recessive Form |
|
Inguinal hernia, Shoulder flexion contracture, Kyphoscoliosis, Micrognathia, Short neck, Trismus,... |
OMIM:277720 |
| Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb... |
OMIM:619795 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... |
OMIM:300695 |
| Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... |
OMIM:309350 |
| Myopathy, Myofibrillar, 4 |
|
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting |
OMIM:609452 |
| Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Carious teeth, Thin clavicles, Delaye... |
OMIM:244460 |
| Cooper-Jabs Syndrome |
|
Frontal bossing, Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs, Proximal... |
ORPHA:1488 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
| Schneckenbecken Dysplasia |
|
Polyhydramnios, Lymphedema, Lateral clavicle hook, Micromelia, Short neck, Accelerated skeletal m... |
ORPHA:3144 |
| Pseudodiastrophic Dysplasia |
|
Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Micrognathia, Short ne... |
OMIM:264180 |
| Weaver Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Flat occiput, Accelerated skeletal maturation, Ca... |
OMIM:277590 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
| Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
| Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Polyhydramnios, Fatty replacement of skeletal muscle, Flexion contractur... |
OMIM:256030 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Micrognathia, Short neck, Embryonal rhabdomyosarcoma, Cleft palate, Brachycephaly, Duodenal atres... |
OMIM:257300 |
| Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Myopathy, Nemaline bodies |
OMIM:618246 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Inguinal hernia, Micrognathia, Kyphosis, Deep philtrum, Brachycephaly, Wide mouth, Umbilical hern... |
OMIM:615834 |
| Tarp Syndrome |
|
Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavatum, Pie... |
ORPHA:2886 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Frontal bossing, Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morpholo... |
ORPHA:1506 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In... |
ORPHA:486815 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
| Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Abnormal motor nerve conduction velocity, Camptodactyly of finger, Pectus excavatum... |
OMIM:614399 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Grant Syndrome |
|
Joint dislocation, Frontal bossing, Bowing of the long bones, Micrognathia, Open bite, Abnormal r... |
ORPHA:2097 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Thoracic kyphoscoliosis, Frontal bossing, Lumbar hyperlordosis, Dolichocephaly, Pe... |
OMIM:613385 |
| Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Congenital hip dislocation, Micrognathia, Short neck, Knee flexion contrac... |
OMIM:114300 |
| Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Pectus excavatum, Postaxi... |
ORPHA:2752 |
| Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Protruding tongue, Accelerated skeletal maturation, O... |
ORPHA:561 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thoracic scoliosis, Micrognathia, Short neck, Generalized joint laxity, Ab... |
ORPHA:508498 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion... |
OMIM:618022 |
| Congenital Myopathy 4B, Autosomal Recessive |
|
Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, EMG: myopathic abnormalities,... |
OMIM:609284 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Myopathy,... |
OMIM:167320 |
| Non-Distal Duplication 10Q |
|
Frontal bossing, Micrognathia, Pectus excavatum, Brachycephaly, Joint hyperflexibility, Everted l... |
ORPHA:1695 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Toe syndactyly, Aplastic ... |
ORPHA:1512 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... |
OMIM:255160 |
| Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Death in... |
OMIM:256050 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
| Arthrogryposis, Distal, Type 1C |
|
Short neck, Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly ... |
OMIM:619110 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Redundant skin, Neonatal wrinkled skin of hands and feet,... |
OMIM:278250 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Accelerated skeletal maturation, Irregular vertebral endplat... |
OMIM:618363 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ... |
OMIM:618484 |
| Aarskog-Scott Syndrome |
|
Genu recurvatum, Short neck, Hypoplasia of the maxilla, Orofacial cleft, Hyperextensible skin, Sh... |
ORPHA:915 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Long toe, Skeletal muscle atrophy, Osteopenia, Arachnodactyly, Lipodystrophy, Kyphoscoliosis, Fle... |
ORPHA:75496 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... |
OMIM:300580 |
| Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Microretrognathia, Absent vertebral body mineralization, Broad long bones, F... |
OMIM:200610 |
| Dysostosis, Stanescu Type |
|
Persistent open anterior fontanelle, Micromelia, Short neck, Hypoplasia of the maxilla, Brachycep... |
ORPHA:1798 |
| Typical Nemaline Myopathy |
|
Polyhydramnios, Micrognathia, Short neck, Limb-girdle muscle weakness, Flexion contracture, High ... |
ORPHA:171436 |
| Squalene Synthase Deficiency |
|
Optic nerve hypoplasia, Micrognathia, Elbow flexion contracture, Retrognathia, 2-3 toe syndactyly... |
OMIM:618156 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... |
OMIM:603689 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Tapered finger, Hypoplasia of... |
OMIM:218000 |
| Periodontal Ehlers-Danlos Syndrome |
|
Premature loss of primary teeth, Micrognathia, Gingival overgrowth, Agenesis of permanent teeth, ... |
ORPHA:75392 |
| Contractural Arachnodactyly, Congenital |
|
Osteopenia, Micrognathia, Short neck, Brachycephaly, Knee flexion contracture, Pectus carinatum, ... |
OMIM:121050 |
| Lujan-Fryns Syndrome |
|
Dental crowding, Camptodactyly of finger, Arachnodactyly, Micrognathia, Pectus excavatum, Hypopla... |
ORPHA:776 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Fryns Syndrome |
|
Tented upper lip vermilion, Polyhydramnios, Proximal placement of thumb, Short neck, Prominent fi... |
OMIM:229850 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Short neck, Cleft upper lip, Cleft palate, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 ve... |
OMIM:214300 |
| Spastic Paraplegia Type 7 |
|
Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper limb muscle weakness, Lower li... |
ORPHA:99013 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
| Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft... |
ORPHA:3104 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Polyhydramnios, Microg... |
OMIM:263210 |
| Distal Myotilinopathy |
|
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... |
ORPHA:98911 |
| Thanatophoric Dysplasia |
|
Frontal bossing, Cloverleaf skull, Redundant skin, Polyhydramnios, Micromelia, Joint stiffness, A... |
ORPHA:2655 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Large iliac wing, Spina bifida oc... |
ORPHA:2780 |
| Pierpont Syndrome |
|
Joint laxity, Thin upper lip vermilion, Short neck, Short toe, Abnormal subcutaneous fat tissue d... |
ORPHA:487825 |
| Nemaline Myopathy 7 |
|
Fatty replacement of skeletal muscle, Knee flexion contracture, Shoulder girdle muscle weakness, ... |
OMIM:610687 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Polyhydramnios, Thin ribs, High palate, Retrognathia, Joint hypermobility |
ORPHA:456328 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Downturned corners of mouth, High palat... |
OMIM:617796 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ulnar deviation of the hand, Proximal placement of thumb, Clinodactyly of the 5th toe, High palat... |
OMIM:620113 |
| Man1B1-Cdg |
|
Thin upper lip vermilion, Resting tremor, Flat occiput, Frontal bossing, Joint hypermobility, Sho... |
ORPHA:397941 |
| De Barsy Syndrome |
|
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Generalized joint laxity, Brachyce... |
ORPHA:2962 |
| Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... |
ORPHA:59135 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Thoracic kyphoscoliosis, Exaggerated median tongue furrow, Lumbar hyperlordosis, Dental crowding,... |
ORPHA:313892 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Narrow mouth, Flexion contracture, Optic nerve hypoplasia, Thin ribs |
OMIM:614833 |
| Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Micrognathia, Pectus excavatum, Abnormality of the dentition, Thick low... |
OMIM:179613 |
| Congenital Myopathy 16 |
|
Scapular winging, Lumbar hyperlordosis, Postural tremor, Micrognathia, Spinal rigidity, Flexion c... |
OMIM:618524 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Pectus excavatum, Kyph... |
OMIM:615290 |
| Muscular Dystrophy, Barnes Type |
|
Myopathy, Muscular dystrophy |
OMIM:158800 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee... |
OMIM:151050 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Joint hypermobility, Downturned corners of mouth, Wide mouth, Short philtrum, Talipes equinovarus... |
OMIM:617333 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Genu recurvatum, Optic atrophy, Reduced bone mineral density, Downturned corners of mouth, Slende... |
ORPHA:1185 |
| Frontometaphyseal Dysplasia 2 |
|
Decreased muscle mass, Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metata... |
OMIM:617137 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Short palm,... |
OMIM:268310 |
| Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy |
ORPHA:50817 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Kyphosis, Flexion contracture, Bell-shaped thorax, High palate, Scoliosis, Dolichocep... |
ORPHA:178148 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Polyhydramnios, Congenital diaphragmatic hernia, Accelerated skeletal matu... |
OMIM:312870 |
| Pelvis-Shoulder Dysplasia |
|
Back pain, Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic il... |
OMIM:169550 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Short neck, Tibial bowing, Opisthotonus, Hypoplasia of first rib... |
OMIM:269150 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Micrognathia, Flexion contracture, Brachycephaly, High palate, Short philtrum, Death ... |
OMIM:619127 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Nemaline Myopathy 8 |
|
Myofibrillar myopathy, Flexion contracture, Facial palsy, Nemaline bodies |
OMIM:615348 |
| Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Spinal cord compression... |
OMIM:222600 |
| Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporos... |
OMIM:617190 |
| Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Polyhydramnios, Micrognathia, Spinal rigidity, Flexion contracture, Increased m... |
ORPHA:171439 |
| X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... |
ORPHA:596 |
| Congenital Heart Block |
|
Cyanosis, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive he... |
ORPHA:60041 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2W |
|
Hand muscle weakness, Intrinsic hand muscle atrophy, Slender long bone, Hammertoe, Distal lower l... |
ORPHA:488333 |
| 3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Skeletal muscle atrophy, Proximal placement of thumb, Micrognathia, High, ... |
ORPHA:435638 |
| Short Syndrome |
|
Delayed eruption of teeth, Enlarged epiphyses, Inguinal hernia, Frontal bossing, Lipodystrophy, L... |
OMIM:269880 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Frontal bossing, Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Redundant skin, Cari... |
OMIM:219200 |
| Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... |
OMIM:255200 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Vertebral fusion, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... |
OMIM:606612 |
| Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Conical tooth, Brachycephaly, Prominent interphalangeal joints, ... |
OMIM:135900 |
| Myopathy, Distal, 3 |
|
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... |
OMIM:610099 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Congenital muscular torticollis, Vertebral fusion, Vaginal hernia, Macrodo... |
ORPHA:2916 |
| Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Pe... |
OMIM:101200 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... |
OMIM:300696 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morpholog... |
ORPHA:3068 |
| Arterial Tortuosity Syndrome |
|
Joint laxity, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Micrognathia, Pec... |
OMIM:208050 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Skeletal muscle atrophy, Scapular winging, Hyperlordosis, Quadriceps muscle weakness, Achilles te... |
OMIM:620389 |
| Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Short neck, Flexion contracture, Hypoplastic iliac wing,... |
OMIM:263650 |
| Kniest Dysplasia |
|
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal ... |
OMIM:156550 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
| Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Tongue atrophy, Multiple joint contractures, Increased Z-disc width, Fac... |
OMIM:617114 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Cloverleaf skull, Rhizomelia... |
ORPHA:93267 |
| Lateral Meningocele Syndrome |
|
Decreased muscle mass, Dental crowding, Micrognathia, Short neck, High palate, Vertebral fusion, ... |
OMIM:130720 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Micrognathia, Cleft lip, Clinodactyly, Kyphosis, Abnorm... |
ORPHA:1724 |
| Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Short neck, Flexion contracture, Brachycephaly, Downturned corners of mouth, Narrow... |
OMIM:264090 |
| Myopathy, Myofibrillar, 8 |
|
Scapular winging, Micrognathia, Pectus excavatum, Centrally nucleated skeletal muscle fibers, Ach... |
OMIM:617258 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Redundant skin, Cervical kyphosis, Generalized joint laxity, Abnormal ster... |
ORPHA:2953 |
| Bohring-Opitz Syndrome |
|
Joint dislocation, Polyhydramnios, Micrognathia, Flexion contracture, Dislocated radial head, Syn... |
OMIM:605039 |
| Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Type 2 m... |
OMIM:603034 |
| Mosaic Trisomy 14 |
|
Frontal bossing, Camptodactyly of finger, Micrognathia, Short neck, Abnormal rib morphology, Clef... |
ORPHA:1703 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Abnormal distal phalanx morphology of finger, Micrognathia, Hyperlordosis, Brachycephaly, Furrowe... |
ORPHA:1387 |
| Central Core Disease |
|
Multiple joint contractures, Myopathy, Type 1 muscle fiber predominance, Pelvic girdle muscle wea... |
ORPHA:597 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... |
OMIM:620068 |
| Congenital Myopathy 23 |
|
Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Facial diplegia, ... |
OMIM:609285 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Sacral dimple, Flat occiput, Overlapping toe, Down-sloping shoulders, T... |
OMIM:617452 |
| Ear-Patella-Short Stature Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly of the 5th finger, Bif... |
ORPHA:2554 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Osteopenia, Thin upper lip vermilion, Joint hypermobility, Pectus excavatum, Optic atrophy, Downt... |
OMIM:618590 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Pectus excavatum, Flexion contr... |
ORPHA:272 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Irregular vertebral endplates, Hyperextensible skin, High palate, Short phalanx of fi... |
OMIM:612350 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Amyotrophy of ankle musculat... |
ORPHA:399086 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carp... |
OMIM:620269 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... |
ORPHA:2635 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Neuropathic spinal arthropathy, Hypoglycosylation of alpha-dystroglycan, Multiple joint contractu... |
ORPHA:370968 |
| Congenital Myopathy 22A, Classic |
|
Thoracic scoliosis, Dental crowding, Polyhydramnios, Micrognathia, Ragged-red muscle fibers, High... |
OMIM:620351 |
| Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Osteopenia, Hypoplasia of the max... |
OMIM:231070 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... |
OMIM:619566 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Hyperglycinemia |
OMIM:619063 |
| Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Spina bifida occulta, Upper limb... |
OMIM:607323 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Flexion contracture, Generalized amyotrophy |
OMIM:618323 |
| Alazami Syndrome |
|
Wide mouth, Slender long bone, Thick vermilion border, Short philtrum, Widely spaced teeth, Scoli... |
ORPHA:319671 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Edema, Micrognathia, Short neck, Short metatarsal, Widely spaced teeth, Narrow chest,... |
OMIM:266920 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Brachydactyly, Turricephaly, Micromelia, Micrognathia, Craniosynostosis, Split... |
ORPHA:2145 |
| Macs Syndrome |
|
Eclabion, Irregular dentition, Joint laxity, Palpebral edema, Redundant skin, Micrognathia, Pectu... |
OMIM:613075 |
| Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Ve... |
ORPHA:87 |
| Pierpont Syndrome |
|
Smooth philtrum, Short neck, Short toe, Brachycephaly, Prominent median palatal raphe, Short foot... |
OMIM:602342 |
| Miyoshi Muscular Dystrophy 1 |
|
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... |
OMIM:254130 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... |
OMIM:600175 |
| Parastremmatic Dwarfism |
|
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis |
OMIM:168400 |
| German Syndrome |
|
Camptodactyly of finger, Lymphedema, Micrognathia, Short neck, Limitation of joint mobility, Brac... |
ORPHA:2077 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Mitochondrial hypertrophy, Decreased activit... |
OMIM:500013 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sacral dimple, Dental crowding, Sandal gap, Postaxial polydactyly, Micr... |
OMIM:615761 |
| Heart-Hand Syndrome, Slovenian Type |
|
Myopathy |
OMIM:610140 |
| Rigid Spine Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Myop... |
ORPHA:97244 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
| Cranioectodermal Dysplasia 4 |
|
Frontal bossing, Joint hypermobility, Sagittal craniosynostosis, Pectus excavatum, Cutis laxa, Hi... |
OMIM:614378 |
| C Syndrome |
|
Micromelia, Micrognathia, High palate, Thick anterior alveolar ridges, Dislocated radial head, Sh... |
OMIM:211750 |
| Anauxetic Dysplasia 2 |
|
Short neck, Flexion contracture, Coxa vara, Hypoplasia of the femoral head, Thoracolumbar kyphosc... |
OMIM:617396 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Ogden Syndrome |
|
Microretrognathia, Frontal bossing, Torticollis, Everted upper lip vermilion, Broad hallux, Ingui... |
ORPHA:276432 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Polyhydramnios, Micrognathia, Coxa vara, Narrow... |
ORPHA:93316 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Microdontia, B... |
OMIM:613458 |
| Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... |
OMIM:615220 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ... |
ORPHA:1143 |
| Ulbright-Hodes Syndrome |
|
Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Short metacarpa... |
ORPHA:3404 |
| Gracile Bone Dysplasia |
|
Death in infancy, Flared metaphysis, Thin ribs, Decreased skull ossification, Slender long bone, ... |
OMIM:602361 |
| Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short... |
OMIM:201000 |
| Monosomy 18P |
|
Generalized dystonia, Kyphoscoliosis, Lymphedema, Pectus excavatum, Carious teeth, Micrognathia, ... |
ORPHA:1598 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Congenital muscular torticollis, Polyhydramnios, Downturned corners of m... |
ORPHA:2215 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Pectus carinatum, Hip dysplasia, Tongue fasciculations, Facial myokymia, Narrow mouth |
OMIM:620007 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy, Ragged-red muscle fibers |
OMIM:618242 |
| Thanatophoric Dysplasia Type 1 |
|
Redundant skin, Polyhydramnios, Micromelia, Femoral bowing, Narrow chest, Cloverleaf skull, Abnor... |
ORPHA:1860 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Frontal bossing, Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Dolichocephaly,... |
ORPHA:40 |
| Alg8-Cdg |
|
Brachydactyly, Abnormality of subcutaneous fat tissue, Edema, Optic atrophy, Hydrops fetalis, Cut... |
ORPHA:79325 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Myopathy |
OMIM:255100 |
| Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Decreased muscle mass, Flat occiput, Broad hallux, Kyphoscoliosis, High, narrow palate, Atlantoax... |
ORPHA:3433 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Widened atrophic scar, Redundant skin, Microgn... |
ORPHA:536532 |
| Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
| Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Lumbar hyperlordosis, Facial palsy, Ra... |
OMIM:160500 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... |
ORPHA:401768 |
| Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... |
ORPHA:98902 |
| Myopathy, Myofibrillar, 2 |
|
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... |
OMIM:608810 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Redundant skin, High, narrow palate, Abnormal finger morphology, Symphalan... |
ORPHA:2658 |
| Craniofaciofrontodigital Syndrome |
|
Osteopenia, Edema, Polyhydramnios, Pectus carinatum, Finger joint hypermobility, Hernia, Joint la... |
ORPHA:363705 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Pectus excavatum, Esophageal atresia, Submucous cleft hard palate, Spina bifida occulta, Tracheoe... |
OMIM:619227 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hype... |
ORPHA:169186 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Congenital hip dislocation, Left ventricular hypertrophy, Kyphoscoliosis, Limited ... |
OMIM:300280 |
| Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Inguinal hernia, Shor... |
ORPHA:61 |
| Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Foot joint contracture, Micrognathia, Tapered finger, Short neck, Delayed skelet... |
ORPHA:444072 |
| Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Tented upper lip vermilion, Osteoarthritis, Brachycephaly, Pectus carinatu... |
OMIM:615582 |
| Cornelia De Lange Syndrome 2 |
|
Thin upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Limited elbow mo... |
OMIM:300590 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Papilledema, Thickened ribs, Cortical sclerosis... |
OMIM:122860 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Congenital Myopathy 14 |
|
Hip contracture, Death in infancy, Polyhydramnios, Flexion contracture, Elbow flexion contracture... |
OMIM:618414 |
| Muscle Filaminopathy |
|
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... |
ORPHA:171445 |
| Geroderma Osteodysplastica |
|
Mandibular prognathia, Beaking of vertebral bodies, Redundant skin, Recurrent fractures, Hip disl... |
ORPHA:2078 |
| Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:261800 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Decreased muscle mass, Dental cro... |
OMIM:309583 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Edema, Polyhydramnios, Hypop... |
ORPHA:2347 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... |
OMIM:309620 |
| Cranioectodermal Dysplasia 2 |
|
Polyhydramnios, Micrognathia, Short neck, Hydrops fetalis, Fused teeth, High palate, Narrow chest... |
OMIM:613610 |
| Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Micrognathia, Short neck, Hydrops fetalis, Femoral bowing, High p... |
OMIM:617022 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Facial palsy, Centra... |
OMIM:255310 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness... |
ORPHA:353327 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Short thumb, Microglossia, Generalized amyotrophy, Scoliosis |
OMIM:616540 |
| Arthrogryposis, Distal, Type 5D |
|
Decreased muscle mass, Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Microg... |
OMIM:615065 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Frontal bossing, Inguinal hernia, Short femur, Wide cranial sutures, Metaphyseal spur... |
OMIM:618188 |
| Wieacker-Wolff Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, High palate, Narrow chest, Long philtrum, ... |
OMIM:314580 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
| Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Abnormal mitochondrial morphology |
OMIM:300438 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Distal amyotrophy, Type 1 muscle fiber predominance, Scoli... |
OMIM:619042 |
| Meier-Gorlin Syndrome 2 |
|
Joint hypermobility, Micrognathia, Dolichocephaly, Delayed skeletal maturation, Patellar aplasia,... |
OMIM:613800 |
| Thanatophoric Dysplasia Type 2 |
|
Frontal bossing, Cloverleaf skull, Redundant skin, Polyhydramnios, Micromelia, Kyphosis, Increase... |
ORPHA:93274 |
| King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle fiber atroph... |
OMIM:619542 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... |
ORPHA:254864 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, Polyhydramnios, Hyperlordosis, Spinal rigidity, Nemaline bodies, Limb muscle weakne... |
OMIM:161800 |
| Melnick-Needles Syndrome |
|
Micrognathia, Narrow chest, Anisospondyly, Short thorax, Abnormal rib morphology, Cone-shaped epi... |
ORPHA:2484 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy |
OMIM:613345 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
| Otopalatodigital Syndrome Type 1 |
|
Thickened calvaria, Bowing of the long bones, Increased bone mineral density, Sandal gap, Proxima... |
ORPHA:90650 |
| Classic Multiminicore Myopathy |
|
Mandibular prognathia, Microretrognathia, Absent muscle fiber merosin, Multiple joint contracture... |
ORPHA:324604 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Glossoptosis, Vertebral segmentation de... |
OMIM:611209 |
| Tetrasomy 9P |
|
Joint dislocation, Myositis, Dental crowding, Micrognathia, Short neck, Downturned corners of mou... |
ORPHA:3310 |
| Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
| Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Tapered finger, Flat acetabular roof, Anteriorly placed anus, Fused cervical verte... |
OMIM:617159 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... |
OMIM:272460 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... |
OMIM:310300 |
| Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Midface retrusion, Recurrent ... |
OMIM:613849 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... |
OMIM:613204 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Long clavicles, Arachnodactyly, Overlapping toe, Micrognathia, Contracture of th... |
ORPHA:83617 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Decreased muscle mass, Redundant neck skin, Congenital hip dislocation, Redundant skin, Inguinal ... |
ORPHA:357074 |
| Renpenning Syndrome |
|
Mandibular prognathia, Skeletal muscle atrophy, Macrodontia, Joint stiffness, Pectus excavatum, H... |
ORPHA:3242 |
| Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Death in infancy, Rocker bottom foot, Polyhydramnios, Micrognathia, Short neck, Optic atrophy, De... |
OMIM:618766 |
| Femoral-Facial Syndrome |
|
Micrognathia, Orofacial cleft, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of th... |
ORPHA:1988 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre... |
ORPHA:3098 |
| Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
| Restrictive Dermopathy |
|
Osteopenia, Multiple joint contractures, Polyhydramnios, Micrognathia, Scaling skin, Decreased sk... |
ORPHA:1662 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Thin upper lip vermilion, Hyperextensibility of the finger joints, Toe syndactyly, Limb joint con... |
ORPHA:505237 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Increased bone mineral density, Facial palsy, Craniosynostosis, Optic atrophy, Brachyc... |
ORPHA:178377 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Edema, Micrognathia, Cleft palate, Talipes equinovarus, Arthrogryposis multip... |
OMIM:616570 |
| Kbg Syndrome |
|
Thin upper lip vermilion, Vertebral fusion, Persistent open anterior fontanelle, Macrodontia, Sho... |
ORPHA:2332 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy |
OMIM:605809 |
| Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Delayed skeletal... |
OMIM:613804 |
| Hypophosphatasia, Childhood |
|
Frontal bossing, Premature loss of primary teeth, Bowing of the legs, Carious teeth, Craniosynost... |
OMIM:241510 |
| Myopathy, Centronuclear, 5 |
|
Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers |
OMIM:615959 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Brachyceph... |
ORPHA:175 |
| Brachyolmia Type 1, Hobaek Type |
|
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
| Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Polyhydramnios, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing mo... |
ORPHA:1427 |
| Zimmermann-Laband Syndrome 3 |
|
Aplasia of the distal phalanx of the 5th toe, Long hallux, Thick lower lip vermilion, Flexion con... |
OMIM:618658 |
| Trisomy 20P |
|
Micrognathia, Short neck, Brachycephaly, Abnormal form of the vertebral bodies, Reduced bone mine... |
ORPHA:261318 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Kyphosis, Optic atrophy, Upper limb amyotrophy, Talipes equinovarus, Scoliosis... |
OMIM:617087 |
| Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Absent sternal ossification, Tracheomalacia, Micrognathia, Hypoplasia of the m... |
OMIM:613803 |
| Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Achilles tendon contracture, Proximal amyotrophy, Skeletal myopathy... |
ORPHA:2596 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Missing ribs, Short neck, Dolichocephaly, Rib... |
OMIM:271520 |
| Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... |
OMIM:619790 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Micrognathia, Joint stiffness, Cleft palate, Tooth agenesis, Ver... |
ORPHA:1166 |
| Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy |
OMIM:615511 |
| Antley-Bixler Syndrome |
|
Frontal bossing, Turricephaly, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurre... |
ORPHA:83 |
| Familial Isolated Dilated Cardiomyopathy |
|
Myopathy |
ORPHA:154 |
| Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Abnormality of the knee, Congenital diaphragmatic hernia, Micrognathia, Missing ribs... |
ORPHA:1834 |
| Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal... |
ORPHA:90652 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Facial palsy, Micrognathia, Type 2 muscle fiber atrophy, High palate, Scoliosis, Weakness of faci... |
OMIM:608930 |
| Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myopath... |
OMIM:248800 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Osteopenia, Hip contracture, Thin upper lip vermilion, Frontal bossing, Facial hypotonia, Tapered... |
OMIM:616801 |
| Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Tented upper lip vermilion, Micrognathia, Flexion contracture, Brachycephaly, Muscle fiber atroph... |
OMIM:620240 |
| Cornelia De Lange Syndrome 5 |
|
Toe syndactyly, Proximal placement of thumb, Micrognathia, Short neck, Small hand, Brachycephaly,... |
OMIM:300882 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Kyphoscoliosis, Upper limb amyotrophy, K... |
ORPHA:496689 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint dislocation, Inguinal hernia, Congenital hip dislocation, Dental crowding, Arac... |
OMIM:225400 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Gingival... |
OMIM:616331 |
| Progeroid Syndrome, Petty Type |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Lipoatrophy, Redundant skin, Wide ant... |
ORPHA:2963 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Abnormal intervertebral disk ... |
ORPHA:2311 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Micrognathia, Unilambdoid synostosis, Brachycephaly, Plagiocephaly,... |
OMIM:618577 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo... |
ORPHA:536467 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Brachycephaly, Metatar... |
OMIM:259600 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Tented upper lip vermilion, Exaggerated cupid's bow, Craniosynostosis, Micrognathia, ... |
ORPHA:369837 |
| Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... |
OMIM:251450 |
| Greig Cephalopolysyndactyly Syndrome |
|
Accelerated skeletal maturation, Abnormal calvaria morphology, Camptodactyly of toe, Broad hallux... |
OMIM:175700 |
| Congenital Pulmonary Lymphangiectasia |
|
Tricuspid regurgitation, Cyanosis, Congestive heart failure, Hydrops fetalis, Chylopericardium, P... |
ORPHA:2414 |
| Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Micrognathia, Anteriorly placed anus, Glossoptosis, H... |
OMIM:117650 |
| 2P15P16.1 Microdeletion Syndrome |
|
Polyhydramnios, Brachycephaly, Enlarged thorax, High palate, Prominent metopic ridge, Facial pals... |
ORPHA:261349 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Joint laxity, Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers,... |
OMIM:254090 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Micrognathia, Bowing of the legs, Short neck, Pectus carinatum, Knee flexion contract... |
OMIM:271665 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Tongue atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Hyperlordos... |
OMIM:620285 |
| Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Thickened calvaria, Micrognathia, Hypoplasia of the maxilla, Accelerated s... |
ORPHA:439822 |
| Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Recurrent joint dislocation, Congenital hip dislocation, Joint hypermobility, Generalized joint l... |
OMIM:130010 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Short palm, Bowing of the long bones, Toe syndactyly, Turricephaly, Craniosynostosis, Micrognathi... |
ORPHA:171839 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Redundant neck skin, Flat occiput, Anterior concavity of thoracic vertebrae, Microgna... |
OMIM:249420 |
| Dysmorphism-Cleft Palate-Loose Skin Syndrome |
|
Trigonocephaly, Redundant skin, Cleft palate, Micrognathia |
ORPHA:1779 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Elevated circulating creatine kinase concentration, Mitochondrial hypertrophy, Myop... |
OMIM:602541 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Glosso... |
ORPHA:94068 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally nucleated skeletal muscle ... |
OMIM:619518 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Acute rhabdomyolysis, Malar prominence, Micrognathia, Kyphosis, Osteopor... |
ORPHA:48431 |
| Melkersson-Rosenthal Syndrome |
|
Facial edema, Facial palsy, Furrowed tongue |
OMIM:155900 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Micrognathia, Lymphedema, High, narrow palate, Short neck, Reduced bone mineral densi... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Osteopenia, Micrognathia, Lymphedema, High, narrow palate, Short neck, Reduced bone mineral densi... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Micrognathia, Lymphedema, High, narrow palate, Short neck, Reduced bone mineral densi... |
ORPHA:99226 |
| Turner Syndrome |
|
Osteopenia, Micrognathia, Lymphedema, High, narrow palate, Short neck, Reduced bone mineral densi... |
ORPHA:881 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature |
OMIM:617069 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy |
OMIM:551500 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Frontal bossing, Toe syndactyly, Micrognathia, Metat... |
ORPHA:3082 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Intestinal malrotation, Micrognathia, Pectus excavatum, Kyphosis, Deep philtrum, Increased nuchal... |
ORPHA:77300 |
| Rin2 Syndrome |
|
Irregular dentition, Redundant skin, Gingival overgrowth, Upper eyelid edema, Increased susceptib... |
ORPHA:217335 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Micrognathia,... |
OMIM:255800 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate, Micrognathia |
ORPHA:718 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Mandibular prognathia, Frontal bossing, Midface retrusion, Joint laxity, Arachnodactyly, Prominen... |
OMIM:619721 |
| Achondrogenesis Type 1B |
|
Frontal bossing, Femoral hernia, Polyhydramnios, Micrognathia, Micromelia, Short neck, Abnormal e... |
ORPHA:93298 |
| Amyotrophic Lateral Sclerosis 21 |
|
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... |
OMIM:606070 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Micrognathia, Hemivertebrae, Brachycephaly, Downturned corners of mouth, W... |
OMIM:156200 |
| Leber Hereditary Optic Neuropathy |
|
Myopathy |
ORPHA:104 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... |
ORPHA:119 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Arachnodactyly, Hip dislocation, Congenital diaphragmatic hernia, Cutis laxa |
OMIM:614100 |
| Recombinant 8 Syndrome |
|
Camptodactyly of finger, Redundant skin, Micrognathia, Pectus excavatum, Cleft upper lip, Abnorma... |
ORPHA:96167 |
| Congenital Disorder Of Glycosylation, Type Iiy |
|
Delayed skeletal maturation, Brachycephaly, Reduced bone mineral density, Scoliosis, Hip subluxation |
OMIM:620200 |
| Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Irregular fe... |
OMIM:613805 |
| Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Brachycephaly, ... |
OMIM:212720 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Joint dislocation, Genu recurvatum, Micrognathia, Accelerated skeletal maturation, Fl... |
OMIM:130070 |
| 2Q32Q33 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe clinodactyly, Dental crowding, Arachnodactyly, Micrognathia, Brachyceph... |
ORPHA:251019 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Skeletal muscle atrophy, Inguinal hernia, Pectus excavatum, Brachycephaly, Cleft palate, Plagioce... |
OMIM:618603 |
| Yunis-Varon Syndrome |
|
Redundant neck skin, Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Polyhy... |
OMIM:216340 |
| Van Maldergem Syndrome 1 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:601390 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Brachycephaly, Abnormal dental morphology, Abnormal d... |
ORPHA:85199 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
| Poland Syndrome |
|
Unilateral absence of pectoralis major muscle, Syndactyly, Unilateral oligodactyly, Unilateral hy... |
OMIM:173800 |
| Glycogen Storage Disease X |
|
Myopathy, Rhabdomyolysis |
OMIM:261670 |
| Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Short thorax, Cleft palate, Narrow pelvis bone, Enlarged thorax, Absent... |
ORPHA:66637 |
| Mcdonough Syndrome |
|
Mandibular prognathia, Micrognathia, Pectus excavatum, Open bite, Kyphosis, Aplasia/Hypoplasia of... |
ORPHA:2471 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Pectus excavatum, Osteoarthritis, Cleft palate, Pectus carinatum, Glossoptosis, Lon... |
ORPHA:166100 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Camptodactyly of finger, Abnormal morphology of ulna, Tarsal sy... |
ORPHA:2633 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Thin upper lip vermilion, Arachnodactyly, Optic nerve hypoplasia, Kyphoscoliosis, Pectus excavatu... |
OMIM:612513 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Adipose tissue loss, Flexion contracture, Bone pain, Loss of facial adip... |
OMIM:256040 |
| C Syndrome |
|
Joint dislocation, Redundant skin, Congenital diaphragmatic hernia, Polyhydramnios, Micrognathia,... |
ORPHA:1308 |
| Joubert Syndrome 18 |
|
Joint laxity, Trident pelvis, Bowing of the long bones, Postaxial polydactyly, Kyphoscoliosis, Cl... |
OMIM:614815 |
| Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Pursed lips, Arachnodactyly, Micrognathia, Short neck, Narrow mouth, Flexion contracture, Calcane... |
ORPHA:562528 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... |
ORPHA:2911 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Congenital hip dislocation, ... |
OMIM:618291 |
| Lethal Recessive Chondrodysplasia |
|
Edema, Polyhydramnios, Micrognathia, Micromelia, Accelerated skeletal maturation, Generalized ost... |
ORPHA:1423 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... |
ORPHA:370980 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, Kyphosis, Generalized limb muscle atrophy, Myopathy, High palate, Scoliosis, Long p... |
ORPHA:2598 |
| Sandhoff Disease, Adult Form |
|
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs |
ORPHA:309169 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... |
OMIM:154275 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Syndactyly, Short neck, Clinodactyly, Brachycephaly, Downturned corners of... |
ORPHA:369891 |
| Costello Syndrome |
|
Abnormal dental enamel morphology, Redundant skin, Polyhydramnios, Abnormality of the dentition, ... |
ORPHA:3071 |
| Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Joint laxity, Tarsal synostosis, Congenital diaphragmatic hernia, Delayed skel... |
OMIM:157800 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... |
OMIM:608340 |
| Desbuquois Dysplasia 2 |
|
Dental crowding, Short neck, Metaphyseal widening, Pectus carinatum, Knee dislocation, Narrow che... |
OMIM:615777 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Proximal placement of thumb, Short neck, High, narrow palate, Brachycephaly, Knee flexion contrac... |
OMIM:613776 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Frontal bossing, Tapered finger, Pectus excavatum, Kyphosis, Pectus carinatum, Oligodontia, Large... |
ORPHA:276630 |
| Cutis Laxa-Marfanoid Syndrome |
|
Arachnodactyly, Redundant skin, Congenital diaphragmatic hernia, Flexion contracture, Hip disloca... |
ORPHA:171719 |
| Warburg Micro Syndrome 3 |
|
Decreased muscle mass, Kyphoscoliosis, Micrognathia, Flexion contracture, Optic atrophy, Brachyce... |
OMIM:614222 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Redundant skin, Micrognathia, Periorbital edema, Morgagni diaphragmatic hernia, Recta... |
OMIM:613177 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Abnormal sacrum morphology, Optic atrop... |
ORPHA:93262 |
| 48,Xxxy Syndrome |
|
Mandibular prognathia, Short neck, Tremor, Brachycephaly, Clinodactyly of the 5th finger, Abnorma... |
ORPHA:96263 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Spin... |
ORPHA:93346 |
| Isolated Glycerol Kinase Deficiency |
|
Myopathy |
ORPHA:408 |
| Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Mesomelic/rhizomelic limb shortening, Accelerated skeletal maturation, Kyphosis... |
ORPHA:1354 |
| Distal Deletion 10Q |
|
Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Brachycephaly, High palate, Clinoda... |
ORPHA:96148 |
| Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
| Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
| Alpha-Mannosidosis, Infantile Form |
|
Mandibular prognathia, Osteopenia, Thickened ribs, Short neck, Brachycephaly, Pectus carinatum, C... |
ORPHA:309282 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... |
ORPHA:397744 |
| Coffin-Siris Syndrome 6 |
|
Frontal bossing, Kyphoscoliosis, Micrognathia, Pectus excavatum, High, narrow palate, Deep philtr... |
OMIM:617808 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Facial palsy, Intrinsic hand muscle atrophy, Knee dislocation, Joint hyperflexibility, Talipes eq... |
ORPHA:178145 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Inguinal hernia, Rhizomelia, Optic nerve hypoplasia, Micrognathia, Sub... |
OMIM:222765 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Excessive skin wrinkling on dorsum... |
ORPHA:2834 |
| Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Frontal bossing, Optic atrophy, Abnormal rib morphology, Diaphyseal th... |
ORPHA:1513 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Larsen-Like Syndrome |
|
Joint dislocation, Frontal bossing, Joint laxity, Kyphoscoliosis, Wide anterior fontanel, Delayed... |
OMIM:608545 |
| Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Polyhydramnios, Micrognathia, Micromelia, Short neck, Coxa vara, Pectus ... |
ORPHA:800 |
| Fountain Syndrome |
|
Facial edema, Abnormal form of the vertebral bodies, Hyperextensible skin, Spina bifida occulta, ... |
ORPHA:3219 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Thin upper lip vermilion, Sacral dimple, Flat occiput, Overlapping toe, Prominent metopic ridge, ... |
OMIM:613792 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Pectus... |
OMIM:178110 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Inguinal hernia, Micrognathia, Pectus excavatum, Submucous cleft hard palate, P... |
OMIM:619122 |
| Raine Syndrome |
|
Mandibular prognathia, Micromelia, Micrognathia, Short neck, Brachycephaly, High palate, Microdon... |
OMIM:259775 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Craniosynostosis, Pyloric stenosis, Rib fusion, Cl... |
ORPHA:261197 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Inguinal hernia, Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Micrognathia... |
OMIM:301830 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Thoracolumbar scoliosi... |
OMIM:313420 |
| Muenke Syndrome |
|
Midface retrusion, Broad hallux, Capitate-hamate fusion, Dental malocclusion, Brachycephaly, Cone... |
OMIM:602849 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Short neck, Spinal rigidity, Kyphosis, Hyperlordosis, Flexion contracture, Scoliosis, Increased v... |
OMIM:300718 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Micrognathia, Missing ribs, Hemivertebrae, Brachycephaly, Cleft palate, Prominent occ... |
OMIM:220210 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Hyperlordosis, Fatty replacement of skeletal muscle, Cranial nerve... |
ORPHA:52430 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Hyperextensible skin, Distal lower li... |
OMIM:619764 |
| Cerebellofaciodental Syndrome |
|
Tapered finger, Short neck, Delayed skeletal maturation, Dental malocclusion, Shortening of all d... |
OMIM:616202 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Joint dislocation, Thin upper lip vermilion, Redundant skin, Abnormality of the dentition, Avascu... |
ORPHA:502 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Internally rotated shoulders, Dental crowding, Ankle flexion c... |
OMIM:617468 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Joint laxity, Facial hypotonia, Genu recurvatum, Kyphosis, Brachycephaly, ... |
ORPHA:364028 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Pseudopapilledema, Facial palsy, Short neck |
ORPHA:3456 |
| Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Short neck, Pectus carinatum, Reduced bone mineral density, Hernia, Abnormal d... |
ORPHA:582 |
| Craniofrontonasal Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Brachycephaly, Sprengel anomaly, Clinodactyly of the... |
OMIM:304110 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Joint laxity, Frontal bossing, Inguinal hernia, Persistent open anterior fontanelle, Facial hypot... |
OMIM:615539 |
| Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w... |
OMIM:139210 |
| Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... |
OMIM:618654 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Mic... |
ORPHA:141152 |
| Xp22.13P22.2 Duplication Syndrome |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Tapered finger, Pectus excavatum, Short n... |
ORPHA:284180 |
| 19P13.13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Sandal gap, Optic nerve hypoplasia, Dolichocephaly, Pectus excavatum, L... |
ORPHA:357001 |
| Verheij Syndrome |
|
Joint laxity, Thin upper lip vermilion, Vertebral fusion, Optic nerve hypoplasia, Short neck, Hip... |
OMIM:615583 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
| Anauxetic Dysplasia 1 |
|
Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Microdontia, Cervical cord comp... |
OMIM:607095 |
| Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... |
OMIM:253000 |
| Marden-Walker Syndrome |
|
Decreased muscle mass, Micrognathia, Short neck, High, narrow palate, Abnormal sternum morphology... |
OMIM:248700 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi... |
OMIM:603511 |
| Stickler Syndrome, Type I |
|
Arthropathy, Micrognathia, Osteoarthritis, Bifid uvula, Arachnodactyly, Scoliosis, Beaking of ver... |
OMIM:108300 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Redundant skin, Micrognathia, Hyperextensible skin, Short phalanx of finger, Joint la... |
OMIM:225410 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Type 1 muscle fiber... |
OMIM:617519 |
| Acrodysostosis |
|
Mandibular prognathia, Micromelia, Accelerated skeletal maturation, Hypoplasia of the maxilla, Sh... |
ORPHA:950 |
| 49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Down-sloping... |
ORPHA:96264 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Pectus excavatum, Congenital fibrosis of extraocular muscles, Thin upper lip vermilion, Kyphosis |
OMIM:609384 |
| Carey-Fineman-Ziter Syndrome 2 |
|
Thin upper lip vermilion, Dental crowding, Micrognathia, High, narrow palate, Velopharyngeal insu... |
OMIM:619941 |
| Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... |
OMIM:177170 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Osteolysis, Joint swelling, Fused cervical vertebrae, Flaring of rib c... |
OMIM:612852 |
| Gapo Syndrome |
|
Frontal bossing, Facial palsy, Redundant skin, Micrognathia, Delayed closure of the anterior font... |
OMIM:230740 |
| X-Linked Immunoneurologic Disorder |
|
Myopathy |
ORPHA:2571 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... |
OMIM:154276 |
| Cleft Palate-Large Ears-Small Head Syndrome |
|
Skeletal muscle atrophy, Micrognathia, Pectus excavatum, Delayed skeletal maturation, Gingival ov... |
ORPHA:2013 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Hemivertebrae, Brachycephaly, Coxa vara, Pectus carinatum, Clinodactyly of the 5th finger, Syndac... |
OMIM:614701 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Achilles tendon contractur... |
ORPHA:353 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger |
OMIM:618453 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Midface retrusion, Lateral clavic... |
OMIM:171480 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Death in early adulthood, Decreased adipose tissue ... |
OMIM:608612 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Absent brainstem auditory responses, Skeletal muscle atrophy, Hand muscle we... |
ORPHA:101085 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... |
OMIM:601596 |
| Arnold-Chiari Malformation Type I |
|
Abnormality of the musculature of the lower limbs, Stiff neck, Myelopathy, Cranial nerve compress... |
ORPHA:268882 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Redundant neck skin, Polyhydramnios, Flexion contracture, Wrist flexion contracture, Long toe, Jo... |
ORPHA:254528 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Mandibular prognathia, Cleft upper lip, Pectus excavatum, Brachycephaly, Cleft palate, Palmoplant... |
OMIM:268850 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Mandibular prognathia, Tapered finger, Optic atrophy, Small hand, Brachycephaly, Downturned corne... |
OMIM:618672 |
| Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Rectal prolapse, Pectus carinatum... |
OMIM:303600 |
| Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Femo... |
ORPHA:2588 |
| Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Hemivertebrae, Abnormal sternum morphology, Parietal bossing, Vertebral fu... |
OMIM:109400 |
| Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Brachycephaly, Anteriorly placed anus, Cutaneou... |
OMIM:211380 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Broad hallux, Micrognathia, Clinodactyly of the 2nd toe, Coxa valga, Short neck... |
OMIM:620073 |
| Emanuel Syndrome |
|
Redundant neck skin, Multiple joint contractures, Dental crowding, Congenital diaphragmatic herni... |
ORPHA:96170 |
| Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy |
ORPHA:1369 |
| Atelosteogenesis Type Ii |
|
Cervical kyphosis, Polyhydramnios, Micrognathia, Micromelia, Short neck, Tracheobronchomalacia, N... |
ORPHA:56304 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tented upper lip vermilion,... |
ORPHA:98905 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Dentin... |
OMIM:259440 |
| Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... |
OMIM:620249 |
| Arthrochalasia Ehlers-Danlos Syndrome |
|
Joint dislocation, Inguinal hernia, Abnormality of subcutaneous fat tissue, Femoral hernia, Scarr... |
ORPHA:1899 |
| Achondrogenesis Type 1A |
|
Short palm, Multiple rib fractures, Frontal bossing, Femoral hernia, Recurrent fractures, Polyhyd... |
ORPHA:93299 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Flexio... |
OMIM:207410 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou... |
ORPHA:2457 |
| Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Crumpled long bones, Bowing of the long bones, Turric... |
ORPHA:2050 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mandibular prognathia, Distal lower limb amyotrophy, Joint laxity, Sandal gap, Tremor, Kyphosis, ... |
OMIM:300354 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:213980 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... |
OMIM:277300 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
| Shprintzen-Goldberg Syndrome |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal form of the ve... |
ORPHA:2462 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... |
OMIM:253700 |
| Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Multiple prenatal fractures, High, narrow ... |
ORPHA:171433 |
| Occipital Horn Syndrome |
|
Persistent open anterior fontanelle, Redundant skin, Pectus carinatum, Hyperextensible skin, High... |
OMIM:304150 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Scapular winging, Tongue atrophy, Facial palsy, Calf muscle hypertrophy,... |
OMIM:158900 |
| Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Pectus carinatum, Downturn... |
ORPHA:1507 |
| Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Beaking of vertebral bodies, Inguinal hernia, G... |
ORPHA:137834 |
| Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused ce... |
OMIM:609053 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Spinal rigidity, Flexion contracture, Death in adolescence, Scoliosis, Increased variability in m... |
OMIM:300717 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Sandal gap, Micromelia, Short neck, Delayed skeletal maturation, Optic ... |
OMIM:614800 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Multiple pterygia, Micrognathia, Orofacial cleft, Symphalangism affectin... |
ORPHA:2990 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Exercise intolerance, Decreased mitochondrial number, Elevated circulating creatine kinase concen... |
ORPHA:352447 |
| Coffin-Siris Syndrome 3 |
|
Joint laxity, Inguinal hernia, Central diaphragmatic hernia, Delayed skeletal maturation, Short d... |
OMIM:614608 |
| White-Sutton Syndrome |
|
Mandibular prognathia, Joint laxity, Facial hypotonia, Optic nerve hypoplasia, Congenital diaphra... |
OMIM:616364 |
| Chst3-Related Skeletal Dysplasia |
|
Barrel-shaped chest, Delayed eruption of teeth, Short metacarpal, Enlarged joints, Rhizomelia, Ky... |
ORPHA:263463 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Generalized amyotrophy, Abnormal mitochondrial morphology |
ORPHA:275872 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Frontal bossing, Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Kyphoscolios... |
OMIM:215100 |
| Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Skeletal muscle hypertrophy, Macroglossia, Myopathy |
ORPHA:2349 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Camptodactyly of finger, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
| Trisomy 1Q |
|
Microretrognathia, Omphalocele, Frontal bossing, Toe syndactyly, Arachnodactyly, Camptodactyly of... |
ORPHA:261344 |
| Adducted Thumbs Syndrome |
|
Myopathy, Arthrogryposis multiplex congenita |
OMIM:201550 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Micrognathia, Kyphosis, Retrognathia, Congenital contracture, Umbilical hernia, ... |
ORPHA:352490 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Finger syndactyly, Abnormal scapula morphology, Congenital diaphragmatic hernia, Apl... |
ORPHA:2141 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... |
ORPHA:98855 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Everted upper lip vermilion, Abnormality of the dentition, Velopharyngeal ... |
OMIM:182290 |
| Alg12-Cdg |
|
Redundant skin, Polyhydramnios, Edema, Micrognathia, Proximal placement of thumb, Posterior plagi... |
ORPHA:79324 |
| Cardiofaciocutaneous Syndrome |
|
Frontal bossing, Redundant skin, Abnormal morphology of ulna, Lymphedema, Pectus excavatum, Short... |
ORPHA:1340 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Decreased muscle mass, Flat occiput, Patellar hypoplasia... |
ORPHA:3041 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal cupping, Metaphy... |
OMIM:156400 |
| Lethal Congenital Contracture Syndrome 1 |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Edema, Micrognathia, Paucity of anterior ... |
OMIM:253310 |
| Even-Plus Syndrome |
|
Epiphyseal dysplasia, Short neck, Vertebral clefting, Brachycephaly, Dysplasia of the femoral hea... |
OMIM:616854 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Micrognathia, Pectus ex... |
ORPHA:247262 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, He... |
ORPHA:2180 |
| Al Kaissi Syndrome |
|
Thin upper lip vermilion, Torticollis, Sacral dimple, Macrodontia, High, narrow palate, Small han... |
OMIM:617694 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Ulnar deviation of the hand, Ankle swelling, Congenital diaphragmatic hernia, Microgn... |
OMIM:166300 |
| Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Pectus ... |
ORPHA:171881 |
| Crisponi Syndrome |
|
Death in infancy, Camptodactyly of finger, Micrognathia, Kyphosis, Flexion contracture, Limitatio... |
ORPHA:1545 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, High palate, Clino... |
OMIM:617602 |
| Sialidosis Type 2 |
|
Skeletal muscle atrophy, Inguinal hernia, Tremor, Kyphosis, Short thorax, Flexion contracture, Hy... |
ORPHA:87876 |
| Trisomy 13 |
|
Median cleft lip, Abnormality of the dentition, High, narrow palate, Postaxial hand polydactyly, ... |
ORPHA:3378 |
| Monosomy 9P |
|
Congenital diaphragmatic hernia, Micrognathia, Abnormality of the dentition, Narrow mouth, Proxim... |
ORPHA:261112 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Mandibular prognathia, Frontal bossing, Sacral dimple, Tented upper lip vermilion, Joint laxity, ... |
OMIM:615828 |
| Sweeney-Cox Syndrome |
|
Flat occiput, Polyhydramnios, Micrognathia, Brachycephaly, High palate, Narrow chest, Short philt... |
OMIM:617746 |
| Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Aplasia/Hypoplasia of the tongue, Micrognathia, Aplasia of... |
ORPHA:1358 |
| Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... |
OMIM:300559 |
| Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy... |
OMIM:150250 |
| Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricular failur... |
ORPHA:439 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Mandibular prognathia, Skeletal muscle atrophy, Thoracic scoliosis, Death in infancy, Abnormality... |
OMIM:620278 |
| Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Frontal bossing, Arachnodactyly, Carious teeth, Hemivert... |
ORPHA:377 |
| Arthrogryposis, Distal, Type 5 |
|
Decreased muscle mass, Arachnodactyly, Limited wrist extension, Recurrent patellar dislocation, P... |
OMIM:108145 |
| Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Death in infancy, Short thorax, Short long bone, Vertebral segme... |
OMIM:618845 |
| Carpenter Syndrome 2 |
|
Short neck, High, narrow palate, Preaxial polydactyly, Brachycephaly, Coxa vara, Pectus carinatum... |
OMIM:614976 |
| Caudal Regression Syndrome |
|
Decreased muscle mass, Missing ribs, Joint stiffness, Abnormal iliac wing morphology, Aplasia/Hyp... |
ORPHA:3027 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Redundant neck skin, Aplasia/Hypoplasia of the scapu... |
ORPHA:3472 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Frontal bossing, Micrognathia, Clinodactyly, Pierre-Robin sequence, Glo... |
OMIM:613604 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Accelerated skeletal maturation, Abnormal hand morphology, Metap... |
ORPHA:93307 |
| Cranioectodermal Dysplasia 3 |
|
Joint laxity, Frontal bossing, Sandal gap, Rhizomelia, Postaxial polydactyly, Micrognathia, 2-4 t... |
OMIM:614099 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Pectus carinatum, Tibial bowing, Reduced bone mineral density, High palate... |
ORPHA:93315 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Frontal bossing, Premature loss of primary teeth, 2-3 toe cutaneous syndactyly, Brachycephaly, Wi... |
OMIM:617364 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, T... |
ORPHA:583 |
| Fibrochondrogenesis 2 |
|
Frontal bossing, Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal wid... |
OMIM:614524 |
| Distal Duplication 15Q |
|
Omphalocele, Congenital muscular torticollis, Arachnodactyly, Camptodactyly of finger, Micrognath... |
ORPHA:1707 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Vertebral fusion, Inguinal hernia, Down-sloping shoulders, Pectus excavatum, Trismus,... |
OMIM:227330 |
| Scheuermann Disease |
|
Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Brachycephaly, Anteriorly placed a... |
OMIM:619148 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded ... |
ORPHA:2063 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Micrognathia, Kyphosis, ... |
ORPHA:404440 |
| Myofibrillar Myopathy 10 |
|
Mandibular prognathia, Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture... |
OMIM:619040 |
| Cenani-Lenz Syndrome |
|
Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Short philtrum, Foot olig... |
ORPHA:3258 |
| Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Redundant skin, Micrognathia, Hypoplasia of the abdominal wall musculature... |
OMIM:612289 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... |
ORPHA:57 |
| Clark-Baraitser syndrome |
|
Joint laxity, Exaggerated median tongue furrow, Frontal bossing, Genu recurvatum, Tapered finger,... |
OMIM:300602 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Micrognathia, Short tubular... |
ORPHA:85184 |
| Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Congenital hip dislocation, Congenital diaphragmatic hernia, Polyhydramnio... |
ORPHA:373 |
| Loeys-Dietz Syndrome 4 |
|
Joint laxity, Torticollis, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Eosinophilic inf... |
OMIM:614816 |
| Winchester Syndrome |
|
Arthropathy, Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteolysis,... |
OMIM:277950 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Short metatarsal, Abn... |
ORPHA:93351 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Brachydactyly, Midface retrusion, Broad hallux, Cleft soft palate, S... |
OMIM:618529 |
| Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
| Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Abnormal dental morphology, Abnormal ... |
ORPHA:2092 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Scapular winging, Dental crowding, Sandal gap, Micrognathia, Pectus exc... |
OMIM:617061 |
| Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H... |
OMIM:147750 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
| Harel-Yoon Syndrome |
|
Mandibular prognathia, Frontal bossing, Micrognathia, Optic atrophy, Pectus carinatum, Distal amy... |
OMIM:617183 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Decreased muscle mass, Widened atrophic scar, ... |
ORPHA:1900 |
| Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Microretrognathia, Neuropathic spinal arthropathy, Joint laxity, Congenital hip dislocation, Poly... |
ORPHA:98914 |
| Congenital Myasthenic Syndrome |
|
Microretrognathia, Neuropathic spinal arthropathy, Joint laxity, Congenital hip dislocation, Poly... |
ORPHA:590 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Chronic gastritis, Osteopenia, Micrognathia, Deep philtrum, Rib exostoses,... |
OMIM:150230 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical... |
ORPHA:98863 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w... |
OMIM:608940 |
| Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Broad skull, Short metatarsal, Brachycephaly, High palate, Broad ribs,... |
OMIM:608328 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Calf muscle... |
OMIM:607155 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Flexion contra... |
ORPHA:157965 |
| Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... |
OMIM:619473 |
| Koolen-De Vries Syndrome |
|
High palate, Widely spaced teeth, Prominent fingertip pads, Vertebral fusion, Prominent metopic r... |
OMIM:610443 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Redundant skin, Short neck, Hernia, Clinodactyly, Abnormal palate morphology |
ORPHA:251046 |
| Cdags Syndrome |
|
Frontal bossing, Delayed cranial suture closure, Sagittal craniosynostosis, Rectourethral fistula... |
OMIM:603116 |
| Greenberg Dysplasia |
|
Polyhydramnios, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Micromelia, Multiple prenat... |
OMIM:215140 |
| Rahman Syndrome |
|
Redundant skin, Kyphoscoliosis, Accelerated skeletal maturation, Talipes equinovarus, Camptodactyly |
OMIM:617537 |
| Neutral Lipid Storage Disease With Myopathy |
|
Myopathy, Increased muscle lipid content |
OMIM:610717 |
| 20Q11.2 Microduplication Syndrome |
|
Sacral dimple, Tented upper lip vermilion, Palpebral edema, Inguinal hernia, Trigonocephaly, Prom... |
ORPHA:363659 |
| Ogden Syndrome |
|
Redundant neck skin, Congenital hip dislocation, Redundant skin, Micrognathia, Lymphedema, Short ... |
OMIM:300855 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Polyhydramnios, Missing ribs, Arac... |
ORPHA:2759 |
| Becker Nevus Syndrome |
|
Lipoatrophy, Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectu... |
ORPHA:64755 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis |
ORPHA:91130 |
| Ck Syndrome |
|
Dental crowding, Micrognathia, Hyperlordosis, Kyphosis, High palate, Scoliosis, Malar flattening,... |
OMIM:300831 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Abnormality of the dentition... |
ORPHA:96169 |
| Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... |
OMIM:253010 |
| Pseudo-Torch Syndrome 2 |
|
Pleural effusion, Ascites, Petechiae, Thin ribs |
OMIM:617397 |
| Faciocardiomelic Syndrome |
|
Osteopenia, Dysharmonic bone age, Micrognathia, Cuboid-shaped vertebral bodies, Dental malocclusi... |
OMIM:612731 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Retrognathia, High palate, Brachycephaly, Narrow mouth |
ORPHA:2528 |
| Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Dystonia, Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterio... |
OMIM:230650 |
| Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Lymphedema, Micrognathia, Calvarial skull ... |
ORPHA:1426 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Optic atrophy, Myopathy, Dystonia, Neonatal death, Intrauterine gr... |
OMIM:618237 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp... |
OMIM:215150 |
| Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
| Cerebrofaciothoracic Dysplasia |
|
Polyhydramnios, Cleft upper lip, Short neck, Rib fusion, Hemivertebrae, Cleft palate, Brachycepha... |
ORPHA:1394 |
| Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... |
ORPHA:206569 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Inguinal hernia, Arachnodactyly, Overlapping toe, Thoracolumbar scoliosis, Micrognathia, Metatars... |
ORPHA:436003 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p... |
OMIM:609813 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Hemivertebrae, Downturned corners of mouth, Short philtrum, Bifid uvul... |
ORPHA:500150 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Skeletal muscle atrophy, Abnormal dental enamel morphology, Kyphoscoliosis, Cleft upper lip, Brac... |
OMIM:601701 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Frontal bossing, Edema, Short neck, Pericardial effusion, Kyphosis, Delayed skeletal maturation, ... |
OMIM:608776 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Polyhydramnios, Micrognathia, Thoracolumbar kyphosis, Increased intervertebral space, Limited elb... |
ORPHA:508533 |
| Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Dental crowding, Wormian bones,... |
OMIM:269300 |
| Cartilage-Hair Hypoplasia |
|
Metaphyseal widening, Brachycephaly, Coxa vara, Femoral bowing, Narrow chest, Short palm, Joint l... |
OMIM:250250 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of te... |
OMIM:248370 |
| X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Decreased muscle mass, Dental crowding, Brachycephaly, Pectus carinatum, H... |
ORPHA:3063 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Pseudopapilledema |
OMIM:314600 |
| Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Hydrops fetalis... |
OMIM:253220 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... |
ORPHA:261 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... |
ORPHA:93360 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Inguinal hernia, Miscarriage, Cleft upper lip, Cleft palate, Slender long bone, Intrauterine grow... |
ORPHA:96181 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... |
ORPHA:98853 |
| Shox-Related Short Stature |
|
Micrognathia, Short neck, Madelung deformity, Genu valgum, Skeletal muscle hypertrophy, Short foo... |
ORPHA:314795 |
| Zaki Syndrome |
|
Sacral dimple, Toe syndactyly, Congenital diaphragmatic hernia, Micrognathia, Long fingers, Wide ... |
OMIM:619648 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Decreased activity of mitochondrial complex I, Skeletal muscle atrophy, Increased mitochondrial n... |
OMIM:615578 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Micrognathia, Tapered finge... |
OMIM:254940 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... |
OMIM:609945 |
| Hurler Syndrome |
|
Short neck, Metaphyseal widening, Flexion contracture, Hernia, Microdontia, Hypoplasia of the fem... |
OMIM:607014 |
| Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Inguinal hernia, Redundant skin, Non-midline cleft lip, Optic atrophy, Torsion... |
ORPHA:1252 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Tongue fasciculations |
OMIM:300816 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Abnormal number of incisors, Inguinal hernia, Coxa valga, Osteoporosis, Finger clinodactyly, Pate... |
ORPHA:2958 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis |
OMIM:302000 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, Axial dystonia, Short neck, Flexion contracture, Retro... |
OMIM:619026 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:125250 |
| Mosaic Trisomy 1 |
|
Thoracic scoliosis, Congenital diaphragmatic hernia, Polyhydramnios, Orofacial cleft, Finger clin... |
ORPHA:1692 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Wormian bones, Micrognathia, Small hand, Fibular hypoplasia, Downturned... |
ORPHA:444077 |
| 19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Short neck, Kyphos... |
ORPHA:254346 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Triceps weakness, Intrinsic hand muscle atrophy, Foot dorsiflexor weakness, Centrally nucleated s... |
OMIM:619574 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
11 pairs of ribs, Hyperextensibility of the finger joints, Micrognathia, Decreased nerve conducti... |
OMIM:618356 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Hypoplasia of the maxilla, Congenital generalized lipodystrophy, Delayed skeletal mat... |
OMIM:608154 |
| Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... |
ORPHA:2319 |
| Pycnodysostosis |
|
Abnormal clavicle morphology, Obtuse angle of mandible, Persistent open anterior fontanelle, Micr... |
ORPHA:763 |
| Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Delayed skeletal maturation, Thick lower lip vermilion, Osteopor... |
OMIM:234250 |
| Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Brachycephaly, Dental crowding, Short neck, Hypomimic face |
ORPHA:320385 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Mandibular prognathia, Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Dental maloc... |
OMIM:608931 |
| Sclerosteosis 1 |
|
Mandibular prognathia, Papilledema, Cortically dense long tubular bones, Syndactyly, Frontal boss... |
OMIM:269500 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Scapular winging, A... |
OMIM:616914 |
| Schaaf-Yang Syndrome |
|
Mandibular prognathia, Frontal bossing, Abnormality of the philtrum, Rocker bottom foot, Tapered ... |
OMIM:615547 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... |
OMIM:184460 |
| Mosaic Trisomy 8 |
|
Frontal bossing, Camptodactyly of finger, Micrognathia, Short neck, Patellar aplasia, Abnormal ri... |
ORPHA:96061 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Midface retrusion, Brachycephaly, Brachydactyly |
ORPHA:35099 |
| Neu-Laxova Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Polyhydramnios, Micrognathia, Micromelia, Flexion contractur... |
ORPHA:2671 |
| Native American Myopathy |
|
Joint laxity, Skeletal muscle atrophy, Submucous cleft soft palate, Micrognathia, Abnormality of ... |
ORPHA:168572 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Thin upper lip vermilion, Head titubation, Cutis laxa, Ankle clonus, Long philtrum, Retrognathia,... |
OMIM:619691 |
| Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Cleft soft palate, Accessory oral frenulum, Supernumerary tooth... |
ORPHA:2919 |
| Alagille Syndrome |
|
Hypoplasia of the ulna, Frontal bossing, Micrognathia, Delayed skeletal maturation, Abnormal rib ... |
ORPHA:52 |
| Atelosteogenesis, Type Iii |
|
Cervical kyphosis, Micrognathia, Hypoplasia of the maxilla, Short neck, Tibial bowing, Knee dislo... |
OMIM:108721 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Myopathy, Muscle ... |
ORPHA:254886 |
| Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Tented upper lip vermilion, Kyphoscoliosis, Multiple prenatal fractures, B... |
OMIM:618644 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:300179 |
| Van Maldergem Syndrome 2 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:615546 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Richieri Costa-Da Silva Syndrome |
|
Joint dislocation, Decreased muscle mass, Diastasis recti, Kyphoscoliosis, Abnormality of the den... |
ORPHA:3101 |
| Glutamate-Cysteine Ligase Deficiency |
|
Myopathy |
ORPHA:33574 |
| Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Lateral clavicle hook, Short neck, Preaxial polydactyly, Brachycephaly, Long thorax... |
OMIM:617925 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Joint laxity, Inguinal hernia, Arachnodactyly, Redundant skin, Congenital diaphragmatic hernia, P... |
OMIM:219100 |
| Adenylosuccinate Lyase Deficiency |
|
Thin upper lip vermilion, Prominent metopic ridge, Flat occiput, Brachycephaly, Long philtrum, Sm... |
ORPHA:46 |
| Emanuel Syndrome |
|
Broad jaw, Torticollis, Congenital hip dislocation, Dental crowding, Intestinal malrotation, Dela... |
OMIM:609029 |
| Thakker-Donnai Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Tracheoesophageal fistula, Downturned... |
ORPHA:1780 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Frontal bossing, Tented upper lip vermilion, Toe syndactyly, Delayed erupt... |
ORPHA:819 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Distal lower limb amyotrophy, Thin upper lip vermilion, Brachydactyly, Fac... |
OMIM:300534 |
| Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Brachycephaly, Oligodontia, Clinodactyly of the 5th finger, Prom... |
ORPHA:1272 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, M... |
OMIM:614437 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
| Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Turricephaly, Parietal foramina, Brachycephaly, Downturned corne... |
OMIM:601224 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Flexion contracture, Myopathy |
ORPHA:157973 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, Anteriorly placed anus,... |
OMIM:218600 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers |
OMIM:540000 |
| Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... |
ORPHA:2712 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Ascites, Micrognathia, Cutis laxa |
OMIM:301045 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Sandal gap, Congenital dia... |
OMIM:612530 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Joint dislocation, Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phal... |
ORPHA:3201 |
| Gm1 Gangliosidosis |
|
Mandibular prognathia, Tremor, Hydrops fetalis, Abnormal form of the vertebral bodies, Hyperlordo... |
ORPHA:354 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Brachycephaly, Dental crowding, Short neck, Hypomimic face |
OMIM:615031 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micromelia, Micrognathia, Bowing of the legs, Short neck, Flexion contracture, Hydrops fetalis, N... |
ORPHA:1865 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Joint laxity, Broad toe, Frontal bossing, Tented upper lip vermilion, Dental crowding, Rocker bot... |
OMIM:612582 |
| Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Polyhydramnios, Brachycephaly, Downturned corners of mouth, High palate, Narrow ... |
OMIM:618268 |
| Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Brachycephaly, Abnormal form of the vertebral bodies, Triphalangeal th... |
ORPHA:794 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Arachnodactyly, Abnormality of the dentition, Joint stiffness, Kyphosis, Delayed skeletal maturat... |
ORPHA:1548 |
| Intellectual Disability, Birk-Barel Type |
|
Sacral dimple, Tented upper lip vermilion, Foot joint contracture, Spinal muscular atrophy, Micro... |
ORPHA:166108 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Frontal bossing, Short neck, Clinodactyly, Brachycephaly, Wide mouth, Macroglossia, Plagiocephaly... |
OMIM:616789 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Accelerated skeletal maturation, Hypoplasia of the maxilla, Neonatal epiph... |
OMIM:101800 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615595 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Inguinal hernia, Pyloric stenosis, Flexion contracture, Elbow flexion contracture, Hi... |
OMIM:614438 |
| Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the... |
ORPHA:193 |
| Neonatal Marfan Syndrome |
|
Long toe, Arachnodactyly, Lipoatrophy, Micrognathia, High, narrow palate, Long fingers, Flexion c... |
ORPHA:284979 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Redundant skin, Kyphosis, Wide anterior fontan... |
OMIM:616482 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Brac... |
OMIM:109120 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... |
OMIM:184252 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Delayed skeletal maturation, Abnormal rib morphology, Downturned corners of mouth, Abnormal epiph... |
ORPHA:2643 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Anal stenosis, Neurogenic bladder, Abnormal odontoid process morphology, Block ... |
OMIM:613686 |
| Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Sandal gap, Dolichocephaly, Brachycephaly, Dow... |
OMIM:617752 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Den... |
OMIM:619503 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Polyhydramnios, Micrognathia, Proximal placement of thumb, Short... |
ORPHA:3103 |
| Potocki-Shaffer Syndrome |
|
Micrognathia, Parietal foramina, Brachycephaly, Downturned corners of mouth, Short philtrum, Decr... |
ORPHA:52022 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... |
ORPHA:329478 |
| Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Polyhydramnios, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, ... |
OMIM:300373 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb mo... |
ORPHA:1120 |
| Prune Belly Syndrome |
|
Congenital hip dislocation, Intestinal malrotation, Pectus excavatum, Abnormal rib morphology, Ap... |
ORPHA:2970 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Tremor, Kyphosis, Distal upper limb amyotrophy, Scoliosis, Abnormal... |
ORPHA:101075 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Cleft soft palate, Polyhydramnios, Kyphosco... |
OMIM:614557 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Fatigue, Exercise intolerance, Exercise-induced myalgia, Myalgia, Decreased activity of mitochond... |
OMIM:618250 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed calcaneal ossification, ... |
OMIM:183900 |
| Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Skeletal muscle atrophy, Thin upper lip vermilion, Prominent metopic ridge, Polyhydramnios, Incre... |
OMIM:618862 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Proximal placement of thumb, Kyphosis, Brachycephaly, Plagiocephaly, High palate, Short philtrum,... |
OMIM:615433 |
| Dpm3-Cdg |
|
Calf muscle hypertrophy, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness |
ORPHA:263494 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... |
OMIM:500009 |
| Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Micrognathia, Orofacial cleft, Abnormal form of the vertebral bodies, Down... |
OMIM:194190 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy, Upper limb muscle weakness, Talipes equinovarus, Scoliosis, Lower limb muscle wea... |
OMIM:616155 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Redundant skin, Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow gr... |
OMIM:250220 |
| Menkes Disease |
|
Joint laxity, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Brachycephaly, Cutis laxa, D... |
OMIM:309400 |
| Lethal Congenital Contracture Syndrome 9 |
|
Polyhydramnios, Micrognathia, Flexion contracture, Congenital contracture, Muscle fiber atrophy, ... |
OMIM:616503 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy... |
OMIM:608840 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Mandibular prognathia, Osteopenia, Dental crowding, Metaphyseal widening, Pectus carinatum, Knee ... |
OMIM:620083 |
| Holt-Oram Syndrome |
|
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Pectu... |
OMIM:142900 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, D... |
OMIM:619797 |
| Osteogenesis Imperfecta, Type Xiii |
|
Skeletal muscle atrophy, Pectus carinatum, Femoral bowing, Enlarged thorax, Reduced bone mineral ... |
OMIM:614856 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Horner syndrome, Short ... |
OMIM:141300 |
| Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
| Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vert... |
ORPHA:280 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness |
OMIM:615156 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Joint laxity, Scapular winging, Micrognathia, Hyperlordosis, Ragged-red muscle fibers, Generalize... |
OMIM:600462 |
| Pallister-Hall-Like Syndrome |
|
Death in infancy, Median cleft lip, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand poly... |
OMIM:241800 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Myopathy |
OMIM:618236 |
| Gapo Syndrome |
|
Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Abnormal form of the vertebral... |
ORPHA:2067 |
| Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Joint dislocation, Dental crowding, Polyhydramnios, Short neck, Knee flexi... |
OMIM:193700 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... |
OMIM:613157 |
| Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Bell-shap... |
OMIM:614592 |
| Gorham-Stout Disease |
|
Osteopenia, Abnormality of the temporomandibular joint, Edema, Abnormal occipital bone morphology... |
ORPHA:73 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Sacral dimple, Tented upper lip vermilion, Frontal bossing, Rocker bottom foot... |
OMIM:619762 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Limb joint contracture, Polyhydramnios, Micrognathia, ... |
OMIM:618186 |
| Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Turricephaly, Aplasia/Hypoplasia of the tongue, Abnormal morpholog... |
ORPHA:2167 |
| Perching Syndrome |
|
Cyanosis |
OMIM:617055 |
| 13Q12.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Congenital diaphragmatic hernia, Kyphoscoliosis, Upper eyelid edema, Ol... |
ORPHA:412035 |
| 7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Congenital diaphragmatic hernia, Micrognathia, Short neck, Hemivertebrae,... |
ORPHA:96121 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Mandibular prognathia, Thick lower lip vermilion, Brachycephaly, Wide mouth, Thick upper lip verm... |
OMIM:309545 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Redundant neck skin, Flat occiput, Micrognathia, High, narrow palate, High palate, Death in child... |
OMIM:214100 |
| Tetrasomy 5P |
|
Pericallosal lipoma, Redundant neck skin, Overlapping toe, Short hallux, Micrognathia, Pectus exc... |
ORPHA:3309 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Inguinal hernia, Sagittal craniosynostosis, Micrognathia, Scaphocephaly, Small hand, Brachycephal... |
ORPHA:459061 |
| Cebalid Syndrome |
|
Turricephaly, Congenital diaphragmatic hernia, Platystencephaly, Brachycephaly, Plagiocephaly, Hi... |
OMIM:618774 |
| Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Recurrent fractures, Microg... |
ORPHA:3409 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Metaphyseal dysplasia, Frontal bossing, Redundant neck skin, Rhizomelia, Micro... |
ORPHA:1842 |
| Arthrogryposis, Distal, Type 2B1 |
|
Mandibular prognathia, Ulnar deviation of the wrist, Camptodactyly of finger, Rocker bottom foot,... |
OMIM:601680 |
| Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
| 15Q24 Microdeletion Syndrome |
|
Joint laxity, Brachydactyly, Congenital diaphragmatic hernia, Abnormality of the dentition, Proxi... |
ORPHA:94065 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... |
OMIM:271700 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Anterior rib cupping, Hyperlordosis, ... |
OMIM:184250 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Exaggerated startle response, Edema of the dorsum of fee... |
ORPHA:521426 |
| Hurler Syndrome |
|
Abnormal clavicle morphology, Frontal bossing, Death in infancy, Camptodactyly of finger, Short n... |
ORPHA:93473 |
| Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Optic atrophy, Coxa ... |
OMIM:602271 |
| Arthrogryposis Multiplex Congenita 5 |
|
Polyhydramnios, Micrognathia, Short neck, Flexion contracture, Hand tremor, Long philtrum, Death ... |
OMIM:618947 |
| Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Joint dislocation, Inguinal hernia, Atypical scarring of skin, Hyperextensible skin, Periodontiti... |
OMIM:617174 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of fir... |
OMIM:154400 |
| Restrictive Dermopathy 1 |
|
Polyhydramnios, Micrognathia, Flexion contracture, Overtubulated long bones, Scaling skin, Neonat... |
OMIM:275210 |
| Congenital Myopathy 24 |
|
Scapular winging, Facial palsy, Pectus excavatum, High palate, Talipes equinovarus, Type 1 muscle... |
OMIM:617336 |
| Tonne-Kalscheuer Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Tremor, Velopharyngeal insufficiency, Downturned c... |
OMIM:300978 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co... |
OMIM:180700 |
| Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Pectus carinatum, Cone... |
OMIM:190350 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Frontal bossing, Camptodactyly of finger, Lip pit, Tapered finger, Abnorma... |
ORPHA:1236 |
| Gm1 Gangliosidosis Type 1 |
|
Spatulate ribs, Hydrops fetalis, Pectus carinatum, Hypoplastic vertebral bodies, Abnormal odontoi... |
ORPHA:79255 |
| Stevenson-Carey Syndrome |
|
Pierre-Robin sequence, Brachycephaly, Downturned corners of mouth, Hip dysplasia, Scoliosis, Narr... |
OMIM:611961 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... |
OMIM:143095 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Joint laxity, Dental crowding, Overla... |
OMIM:617402 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Skeletal muscle atrophy, Limb joint contracture, Postural tremor, Tape... |
OMIM:301072 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ... |
OMIM:616300 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Pectus excavatum of inferior sternum, Thin upper lip vermilion, Brachydactyly, Rocker bottom foot... |
OMIM:601353 |
| Blomstrand Lethal Chondrodysplasia |
|
Polyhydramnios, Micrognathia, Accelerated skeletal maturation, Hydrops fetalis, Narrow chest, Dis... |
ORPHA:50945 |
| Angelman Syndrome |
|
Mandibular prognathia, Flat occiput, Protruding tongue, Hypoplasia of the maxilla, Limb tremor, B... |
OMIM:105830 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Skeletal muscle atrophy, Micrognathia, Flexion contracture, Brachycephaly, Oligodontia, High pala... |
OMIM:309590 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... |
OMIM:609616 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Sacral dimple, Brachycephaly, Ankle clonus, Lower limb hypertonia, High palate, Scoliosis, Intent... |
OMIM:619995 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Increased adipose tissue, Proximal amyotrophy, Scoliosis |
OMIM:617404 |
| Viss Syndrome |
|
Chronic gastritis, Polyhydramnios, Micrognathia, High, narrow palate, Generalized joint laxity, B... |
OMIM:619472 |
| Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Frontal bossing, Congenital diaphragmati... |
ORPHA:380 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Micrognathia, Pectus excavatum, Tremor, Generalized joint laxity, Delayed skel... |
ORPHA:502423 |
| Alg9-Cdg |
|
Villous atrophy, Micrognathia, Short neck, Hydrops fetalis, Brachycephaly, Narrow greater sciatic... |
ORPHA:79328 |
| Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Micrognathia, Cleft palate, Neonatal dea... |
OMIM:615524 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Hydrops fetalis, Brachycephaly, Pectus carinatum, Thoracic dysplasia, Narr... |
OMIM:263520 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:617070 |
| Stickler Syndrome |
|
Joint dislocation, Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Osteoarthrit... |
ORPHA:828 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of lon... |
ORPHA:98913 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy |
OMIM:170400 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Inguinal hernia, Kyphosis, Pectus carinatum, Reduced bone mineral density, Delayed ossification o... |
OMIM:618392 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number, Decreased muscle mass, Decreased muscle glycogen content, Upper l... |
ORPHA:263297 |
| 9P13 Microdeletion Syndrome |
|
Microretrognathia, Joint stiffness, Abnormality of cartilage of external ear, Brachycephaly, Hand... |
ORPHA:324313 |
| Myasthenic Syndrome, Congenital, 12 |
|
Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy |
OMIM:610542 |
| Myopathy, Myofibrillar, 6 |
|
Scapular winging, Facial palsy, Knee flexion contracture, Generalized amyotrophy, Muscular dystro... |
OMIM:612954 |
| Duplication Of The Pituitary Gland |
|
Thoracic scoliosis, Abnormal odontoid process morphology, Abnormality of joint mobility, Polyhydr... |
ORPHA:314621 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Joint dislocation, Dental crowding, Genu recurvatum, Calcaneovalgus deformity, Absent phalangeal ... |
ORPHA:230851 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Short humerus, Swan neck-like deformities of the fin... |
OMIM:616716 |
| Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Joint stiffness, Non-mid... |
ORPHA:1915 |
| Hunter-Macdonald Syndrome |
|
Thin upper lip vermilion, Epiphyseal dysplasia, Inguinal hernia, Metatarsus adductus, Cubitus val... |
OMIM:611962 |
| Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Edema, Micromelia, Hypoplas... |
ORPHA:93296 |
| Trisomy 9P |
|
Sacral dimple, Dental crowding, Short neck, Kyphosis, Non-midline cleft lip, Brachycephaly, Impac... |
ORPHA:236 |
| Leri Pleonosteosis |
|
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormal finger mor... |
ORPHA:2900 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Tremor, Brachycephaly, Widely spaced teeth, Amelogenesis imperfecta, 2-3 toe syndactyly, Scoliosi... |
OMIM:619229 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Short neck, Cleft upper lip, Cleft palate, Clinodactyly o... |
OMIM:244600 |
| Down Syndrome |
|
Joint laxity, Aganglionic megacolon, Sandal gap, Protruding tongue, Abnormality of the dentition,... |
ORPHA:870 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Tented upper lip vermilion, Rocker bottom foot, Edema, Micrognathia... |
OMIM:617527 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Decreased nerve conduction velocity, Ulnar deviation of fing... |
ORPHA:2928 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ... |
OMIM:620265 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
| Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Persistence of primary teeth, Protruding tongue, Tracheobronc... |
OMIM:610253 |
| Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Hyperextensibil... |
OMIM:601492 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Scoliosis, Thoracic... |
ORPHA:1445 |
| Moebius Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis... |
ORPHA:570 |
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
11 pairs of ribs, Hip contracture, Pursed lips, Inguinal hernia, Micrognathia, Metatarsus adductu... |
OMIM:616266 |
| Aicardi Syndrome |
|
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Missing ribs, Cleft upper li... |
ORPHA:50 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cyanosis, Cardiac arrest, Hypoxemia, Bradycardia, Hypotension, Pulmonary edema |
ORPHA:70587 |
| Catel-Manzke Syndrome |
|
Joint dislocation, Micrognathia, Short neck, Pectus carinatum, Glossoptosis, High palate, Clinoda... |
OMIM:616145 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Arachnodactyly, Congenital diaphragmatic hernia, Tremo... |
ORPHA:370079 |
| Pontocerebellar Hypoplasia, Type 1B |
|
Skeletal muscle atrophy, Tongue atrophy, Flexion contracture, Hip dislocation, Tongue fasciculations |
OMIM:614678 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... |
OMIM:609560 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Septo-optic dysplasia, Short fourth metatarsal, Polyhydramnios, Micrognath... |
OMIM:619841 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Bell-shaped tho... |
OMIM:255710 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Brachycephaly, High p... |
OMIM:618142 |
| Chromosome 18P Deletion Syndrome |
|
Barrel-shaped chest, Redundant neck skin, Toe syndactyly, Micrognathia, Short neck, Coxa vara, Hi... |
OMIM:146390 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Myopathy |
ORPHA:26792 |
| Acrootoocular Syndrome |
|
Abnormal finger flexion crease, Micrognathia, High, narrow palate, Anodontia, Small hypothenar em... |
ORPHA:2980 |
| Fetal Trimethadione Syndrome |
|
Micrognathia, Brachycephaly, High palate, Scoliosis, Intrauterine growth retardation, Midface ret... |
ORPHA:1913 |
| Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures, Brachycephaly... |
OMIM:610968 |
| Acquired Partial Lipodystrophy |
|
Myopathy |
ORPHA:79087 |
| Sialidosis Type 1 |
|
Skeletal muscle atrophy, Frontal bossing, Decreased nerve conduction velocity, Kyphosis, Tremor, ... |
ORPHA:812 |
| Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Narrow mouth, Dental malocclusion, Temporomandibular joint ankylos... |
OMIM:614669 |
| Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow fl... |
OMIM:259450 |
| Seckel Syndrome 1 |
|
Dental crowding, Selective tooth agenesis, Abnormal finger flexion crease, Micrognathia, High pal... |
OMIM:210600 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Skeletal muscle atrophy, Decreased nerve conduction velocity, Kyphosis, Tremor, Scoliosis |
ORPHA:101078 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Kyphosis, Dental malocclusion... |
ORPHA:1858 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Kypho... |
OMIM:607855 |
| Myopathy, Mitochondrial, And Ataxia |
|
Mandibular prognathia, Micrognathia, Pectus excavatum, Tremor, Delayed skeletal maturation, Multi... |
OMIM:617675 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Short neck, Metaphyseal wid... |
OMIM:224400 |
| Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Micrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, I... |
ORPHA:2461 |
| Myasthenic Syndrome, Congenital, 19 |
|
Barrel-shaped chest, Facial palsy, Micrognathia, Spinal rigidity, Distal joint laxity, Pectus car... |
OMIM:616720 |
| Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... |
OMIM:184400 |
| Robinow Syndrome |
|
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty... |
ORPHA:97360 |
| Ollier Disease |
|
Micromelia, Joint stiffness, Abnormal cartilage morphology, Bone pain, Osteolysis, Skin ulcer, Mu... |
ORPHA:296 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Congenital diaphragmatic hernia, Missing ribs, Apl... |
ORPHA:1647 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Lipoatrophy, Micrognathia, Carious teeth, Open bite, Kyphosis, Congenital pyloric atresia, Reduce... |
ORPHA:2617 |
| Xylt1-Cdg |
|
Joint dislocation, Joint laxity, Coxa valga, Accelerated skeletal maturation, Flared metaphysis, ... |
ORPHA:370930 |
| Autosomal Dominant Robinow Syndrome |
|
Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormality of the gingiva, Hemiverteb... |
ORPHA:3107 |
| Acrofrontofacionasal Dysostosis |
|
Brachydactyly, Camptodactyly of finger, Micromelia, Non-midline cleft lip, Brachycephaly, Cleft p... |
ORPHA:1784 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o... |
OMIM:616007 |
| Congenital Myopathy 13 |
|
Skeletal muscle atrophy, Kyphoscoliosis, Micrognathia, Fatty replacement of skeletal muscle, Flex... |
OMIM:255995 |
| Pycnodysostosis |
|
Frontal bossing, Persistent open anterior fontanelle, Increased bone mineral density, Wormian bon... |
OMIM:265800 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Choreoathetosis, Cyanosis, Dystonia |
ORPHA:71277 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Short palm, Facial palsy, Kyphoscoliosis, Micrognathia, Carious teeth, Trismus, Narrow mouth, Tap... |
OMIM:272430 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
High, narrow palate, Kyphosis, Split hand, Scoliosis, Foot dorsiflexor weakness |
OMIM:618124 |
| White Forelock With Malformations |
|
Finger syndactyly, Deep philtrum, Delayed skeletal maturation, Abnormal rib morphology, Joint hyp... |
ORPHA:2475 |
| Trisomy 8Q |
|
Camptodactyly of finger, Micrognathia, Short neck, Joint stiffness, Non-midline cleft lip, Orofac... |
ORPHA:1752 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Micrognathia, Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Hitchhi... |
OMIM:614078 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... |
ORPHA:254361 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Sandal gap, Tapered finger... |
OMIM:618430 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Frontal bossing, Short metacarpal, Camptodactyly of finger, Micrognathia, Abnormality of the dent... |
ORPHA:77258 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, Generalized joint laxity, Brachycephaly, Hyperextensible skin, High palate, Ec... |
OMIM:601776 |
| Osteogenesis Imperfecta, Type Xvi |
|
Microretrognathia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Rhizomeli... |
OMIM:616229 |
| Duane Retraction Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial h... |
ORPHA:233 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the ... |
ORPHA:276422 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
| Hamamy Syndrome |
|
Osteopenia, Micrognathia, Brachycephaly, High palate, Clinodactyly of the 5th finger, Long toe, S... |
OMIM:611174 |
| Acrocallosal Syndrome |
|
Abnormal clavicle morphology, Inguinal hernia, Congenital diaphragmatic hernia, Wide anterior fon... |
ORPHA:36 |
| 3C Syndrome |
|
Micrognathia, Short neck, High, narrow palate, Hemivertebrae, Orofacial cleft, Finger syndactyly,... |
ORPHA:7 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Pectus carinatum, Joint hyperflexibility, Upper limb hypertonia, Limb dystonia |
ORPHA:319199 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Abnormality of the dentition, Pectus excavatum, Deep philtrum... |
OMIM:615398 |
| Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Microretrognathia, Joint dislocation, Joint laxity, High palate, Short clavicles, Short 4th metac... |
OMIM:606220 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Brachydactyly, Redundant neck skin, Short neck, 2-3 toe syndactyly, Cutaneous ... |
OMIM:236500 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Short neck, Deep philtrum, Knee flexion contracture, Microdontia, Prominent crus of helix, Thin l... |
OMIM:619194 |
| Ritscher-Schinzel Syndrome 4 |
|
Ulnar deviation of the hand, Tapered finger, Hip dislocation, Brachycephaly, Narrow palate, Wide ... |
OMIM:619435 |
| Orofaciodigital Syndrome Type 10 |
|
Micrognathia, Short neck, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation o... |
ORPHA:2756 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Osteopenia, Lipodystrophy, Recurrent shoulder dislocation, Down-sloping shoulders, Short clavicle... |
OMIM:212112 |
| Orofaciodigital Syndrome Xix |
|
Frontal bossing, Toe syndactyly, Broad hallux, Cleft soft palate, Accessory oral frenulum, Type A... |
OMIM:620107 |
| Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Upper limb peromelia, Brachycephaly... |
ORPHA:1299 |
| Achondroplasia |
|
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
| Cleidocranial Dysplasia 2 |
|
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypopla... |
OMIM:620099 |
| Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Kyphosis, Non-midline cleft lip, Postaxial hand po... |
ORPHA:2075 |
| Braddock Syndrome |
|
Congenital muscular torticollis, Micrognathia, Pectus excavatum, Preaxial hand polydactyly, Missi... |
ORPHA:52047 |
| Ruijs-Aalfs Syndrome |
|
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Frontal bossing, Lipodystrophy, Down-sloping sh... |
OMIM:616200 |
| Myasthenic Syndrome, Congenital, 10 |
|
Weakness of facial musculature, Distal amyotrophy, Tongue atrophy, Proximal amyotrophy |
OMIM:254300 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Death in infancy, Epiphyseal stippling |
OMIM:614876 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Micrognathia, Spinal ri... |
ORPHA:2062 |
| Smith-Lemli-Opitz Syndrome |
|
Polyhydramnios, Micrognathia, Congenital diaphragmatic hernia, Proximal placement of thumb, Short... |
ORPHA:818 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Muscular dystrophy, Myopathy |
OMIM:615980 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Inguinal hernia, Dental crowding, Micromelia, Kyphosis, Limited elbow extension... |
OMIM:180870 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Tented upper lip vermilion, Facial hypotonia, 2-3 toe cutaneous syndactyly, Brachycephaly, Short ... |
OMIM:300260 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
| Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Frontal bossing, Micrognathia, Malabso... |
ORPHA:1225 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ... |
OMIM:613091 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Dental crowding, Inguinal hernia, Proximal placement of thumb, M... |
ORPHA:3121 |
| Barth Syndrome |
|
Fatigue, Skeletal myopathy, Exercise intolerance, Abnormal mitochondrial morphology |
OMIM:302060 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Enlargement of... |
OMIM:271650 |
| Vacterl/Vater Association |
|
Omphalocele, Finger syndactyly, Abnormal intervertebral disk morphology, Congenital diaphragmatic... |
ORPHA:887 |
| Campomelia, Cumming Type |
|
Death in infancy, Brachydactyly, Bowing of the long bones, Abnormally ossified vertebrae, Microme... |
ORPHA:1318 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Arthropathy, Long clavicles, Redundant skin, Pectus excavatum, Erythema, Clubbing, Os... |
OMIM:259100 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Decreased n... |
OMIM:618138 |
| Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Femur fracture, Delayed eruption of primary teeth, Micrognat... |
OMIM:619322 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis |
OMIM:300434 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Spina bifida occulta, Brachycephaly, Micrognathia |
ORPHA:1514 |
| Achondrogenesis, Type Ib |
|
Inguinal hernia, Polyhydramnios, Edema, Hypoplastic ilia, Micromelia, Hydrops fetalis, Umbilical ... |
OMIM:600972 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Redundant neck skin, Overlapping fingers, Optic nerve hypoplasia, Polyhydramnios, Rocker bottom f... |
OMIM:301056 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micrognathia, Hyperlordosis, Joint stiffness, Narrow ... |
ORPHA:1323 |
| Chondrodysplasia, Blomstrand Type |
|
Polyhydramnios, Micrognathia, Fetal ascites, Micromelia, Accelerated skeletal maturation, Squared... |
OMIM:215045 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Micrognathia, Wide mouth, Left ventricular noncompaction, Increased intramyocellular lipid drople... |
OMIM:617228 |
| Trisomy 18 |
|
Congenital diaphragmatic hernia, Hernia, Microretrognathia, Spina bifida, Esophageal atresia, Del... |
ORPHA:3380 |
| 8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent... |
ORPHA:178303 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Hypoplasia of the primar... |
OMIM:257850 |
| Glycogen Storage Disease Iii |
|
Myopathy, Distal amyotrophy |
OMIM:232400 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Pursed lips, Inguinal hernia, Frontal bossing, Diastasis recti, Polyhydramnios, Micr... |
ORPHA:254519 |
| Mulibrey Nanism |
|
Frontal bossing, Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental mal... |
OMIM:253250 |
| Chromosome 17Q12 Duplication Syndrome |
|
Facial hypotonia, Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtr... |
OMIM:614526 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| 2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Short neck, Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, ... |
ORPHA:251014 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Pectus carinatum, H... |
OMIM:300676 |
| Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Joint stiffness, Hypoplasia of the maxilla, Broad skull, Spinal canal steno... |
OMIM:277600 |
| Chopra-Amiel-Gordon Syndrome |
|
Thin upper lip vermilion, Joint hypermobility, Cleft lip, Delayed skeletal maturation, Pierre-Rob... |
OMIM:619504 |
| 2Q23.1 Microdeletion Syndrome |
|
Tented upper lip vermilion, Macrodontia, Sandal gap, Brachycephaly, Hip dysplasia, Everted lower ... |
ORPHA:228402 |
| Nicolaides-Baraitser Syndrome |
|
Short palm, Joint dislocation, Sandal gap, Accelerated skeletal maturation, High, narrow palate, ... |
ORPHA:3051 |
| Gómez-López-Hernández Syndrome |
|
Turricephaly, Thin vermilion border, Brachycephaly, Midface retrusion |
ORPHA:1532 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Short neck, High, narrow palate, Deep philtrum, Brachycephaly, Downturned ... |
OMIM:619950 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, P... |
OMIM:608728 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Thin upper lip vermilion, Decreased sensory nerve cond... |
ORPHA:456312 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cubitus valgus, Kyphosis, Congenital muscular dystrophy, Joint hyperflexibility |
ORPHA:1875 |
| Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Abnormal sacrum morphology, Optic atrop... |
ORPHA:207 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Short neck, Pect... |
ORPHA:77301 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Flat occiput, Arachnodactyly, Micrognathia, High, narrow palate, Optic atrophy, Brachycephaly, Wi... |
ORPHA:2707 |
| Pelger-Huet Anomaly |
|
Frontal bossing, Abnormality of the dentition, Kyphosis, Gingival overgrowth, Upper limb undergro... |
OMIM:169400 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
| Cdkl5-Deficiency Disorder |
|
Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Deep philtrum, Everted lower lip v... |
ORPHA:505652 |
| Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Hitchhiker thumb, Thoracolumbar scoliosis, Spina bifida, Mic... |
ORPHA:2437 |
| Intellectual Disability-Strabismus Syndrome |
|
Rocker bottom foot, Congenital diaphragmatic hernia, Polyhydramnios, Micrognathia, Abnormality of... |
ORPHA:363528 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Pectus carinatum, Short p... |
ORPHA:464738 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Shortenin... |
OMIM:301900 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Congenital bilateral hip dislocation, Kyphosis, Talipes equinovarus |
ORPHA:85288 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Microretrognathia, Hip contracture, Joint laxity, Overlapping toe, Rocker bottom foot, Kyphoscoli... |
ORPHA:488642 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Polyhydramnios, Missing ribs, Short neck, Esophageal atresia, Tracheoesophageal fistula, Brachyce... |
OMIM:619859 |
| Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... |
ORPHA:392 |
| Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Decreased muscle mass, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Dentinog... |
OMIM:616507 |
| Muenke Syndrome |
|
Tarsal synostosis, High, narrow palate, Brachycephaly, Cone-shaped epiphysis, Short foot, Plagioc... |
ORPHA:53271 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal m... |
ORPHA:3035 |
| Cree Mental Retardation Syndrome |
|
Aplasia/Hypoplasia of the ribs, Cleft soft palate, Rocker bottom foot, Micrognathia, Pectus excav... |
OMIM:606851 |
| 8Q12 Microduplication Syndrome |
|
Brachycephaly, Abnormal cranial nerve morphology, Short foot, Everted lower lip vermilion, Narrow... |
ORPHA:228399 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Redundant skin, Abnormal sacroiliac joint morphology, Downturned corners of mouth, Short philtrum... |
ORPHA:1807 |
| Kbg Syndrome |
|
Short palm, Syndactyly, Vertebral fusion, Tented upper lip vermilion, Macrodontia, Short neck, De... |
OMIM:148050 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Short neck, Tremor, High palate, Short philtrum, Biparietal narrowing, Short palm, Clinodactyly o... |
ORPHA:85293 |
| Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate, Spina bifida, Micrognathia, Limitation of joint mobility, Op... |
ORPHA:99742 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal cord compression, Vertebral fusion, Spinal instability |
OMIM:251250 |
| Mastocytosis, Cutaneous |
|
Urticaria, Erythema, Edema, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Upper limb muscle weakness, Distal amyotrophy, Lower limb muscle weakness, EMG: myopathic abnorma... |
ORPHA:99939 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Skeletal muscle atrophy, Myopathy, Spinal muscular atrophy, Weakness of facial musculature |
ORPHA:254875 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplasia of the maxilla, Cervical cord compression, Hypoplastic cervical ver... |
ORPHA:79345 |
| Pulmonary Arteriovenous Malformation |
|
Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Heart murmur, Telangiectas... |
ORPHA:2038 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... |
OMIM:607459 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... |
ORPHA:99103 |
| Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Diastema, Open bite, Hyperlordosis, G... |
OMIM:619698 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Micrognathia, Coxa vara, Hyperextensible skin, Hernia, Abnormality... |
ORPHA:1901 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Short neck, Anteriorly placed anus, Downturned corners of mouth, Short phalanx of f... |
OMIM:616894 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Skeletal muscle atrophy, Neurogenic bladder, Congenital hip dislocation, Polyhydramnios, Microgna... |
ORPHA:496641 |
| Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
| Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Micrognathia, Kyphosis, Flexion contracture, Abnormal sternum m... |
ORPHA:314588 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... |
OMIM:300106 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Frontal bossing, Prominent metopic ridge, Congenital hip dislocation, Exag... |
OMIM:619512 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased connective tissue, Carious teeth, Scarring alopecia of scalp, Motheaten muscle fibers, ... |
OMIM:226670 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ... |
OMIM:600002 |
| Zttk Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Downturned corners of mouth, Hyper... |
OMIM:617140 |
| Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos... |
OMIM:208230 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Abnormality of the musculature of the lower limbs, Kyphosis, Hip dislocation, Downturned corners ... |
ORPHA:464282 |
| Atrial Septal Defect, Ostium Primum Type |
|
Atrial flutter, Tricuspid regurgitation, Cyanosis, Abnormally loud pulmonic component of the seco... |
ORPHA:99106 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Os odontoideum, Dermal translucency, Osteopenia, Joint laxity, Hip dislocation, Cutis laxa, Talip... |
OMIM:616603 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Distal amyotrophy, Scoliosi... |
ORPHA:3454 |
| Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Hypoplastic is... |
ORPHA:3003 |
| Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
| Chromosome 5P13 Duplication Syndrome |
|
Frontal bossing, Turricephaly, Craniosynostosis, Long fingers, Brachycephaly, Downturned corners ... |
OMIM:613174 |
| Kaufman Oculocerebrofacial Syndrome |
|
Optic disc pallor, Thin upper lip vermilion, Congenital hip dislocation, Intestinal malrotation, ... |
OMIM:244450 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Myopathy |
OMIM:618234 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Kyphosis, Hip dislocation, Talipes equinovarus, Scoliosis, Dystonia |
OMIM:616756 |
| Beck-Fahrner Syndrome |
|
Facial hypotonia, Accelerated skeletal maturation, Brachycephaly, Hip dysplasia, High palate, Lon... |
OMIM:618798 |
| 8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Congenital diaphragmatic hernia, Micrognathia, Proximal placement of thumb,... |
ORPHA:251071 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Intrauterine growth retardation, Redundant skin |
OMIM:301021 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Frontal bossing, High palate, Increased variability in muscle fiber diameter, Enamel hypoplasia, ... |
OMIM:617915 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smoo... |
ORPHA:3206 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Prominent metopic ridge, Craniosynostosis, Increased nuchal translucency, Cleft palat... |
ORPHA:453499 |
| Mannosidosis, Alpha B, Lysosomal |
|
Mandibular prognathia, Frontal bossing, Inguinal hernia, Flat occiput, Increased vertebral height... |
OMIM:248500 |
| Craniosynostosis 2 |
|
Frontal bossing, Bicoronal synostosis, Turricephaly, Wormian bones, Cleft soft palate, Craniosyno... |
OMIM:604757 |
| Arterial Tortuosity Syndrome |
|
Redundant skin, Coxa vara, Hyperextensible skin, Clinodactyly of the 5th finger, Arachnodactyly, ... |
ORPHA:3342 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Redundant skin, Kyphoscoliosis, Hip disloca... |
OMIM:617403 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Congenital hip dislocation, Dental crowding, Polyhydramnios, Micrognathia, Flexion contracture, K... |
ORPHA:2020 |
| Opsismodysplasia |
|
Edema, Polyhydramnios, Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short ... |
OMIM:258480 |
| Trisomy 17P |
|
Skeletal muscle atrophy, Prominent metopic ridge, Micrognathia, Tapered finger, Short neck, Flexi... |
ORPHA:261290 |
| Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol... |
ORPHA:2876 |
| Distal Deletion 12Q |
|
Micrognathia, Short neck, High, narrow palate, Brachycephaly, Aplasia/Hypoplasia of the middle ph... |
ORPHA:96149 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Chops Syndrome |
|
High, narrow palate, Optic atrophy, Downturned corners of mouth, Long philtrum, Tracheomalacia, C... |
OMIM:616368 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... |
OMIM:617405 |
| Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Sacral dimple, Redundant neck skin, Broad hallux, Wide anterior fontanel, Brachycepha... |
OMIM:239710 |
| Atelosteogenesis Type I |
|
Joint dislocation, Short femur, Rhizomelia, Polyhydramnios, Micrognathia, Malrotation of colon, A... |
ORPHA:1190 |
| Gomez-Lopez-Hernandez Syndrome |
|
Turricephaly, Craniosynostosis, Wide anterior fontanel, Brachycephaly, Thin vermilion border, Hig... |
OMIM:601853 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
| Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Abnormal clavicle morphology, Finger syndactyly, Abnormal dental morph... |
ORPHA:568 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Congenital hip dislocation, Micrognathia, Pectus carinatum, ... |
ORPHA:536545 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Rhabdomyolysis, Ragged-red muscle fibers, Choreoathetosis, Scoliosis, Dystonia, Weakness of facia... |
OMIM:618416 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Kyphosis, Wide mouth, Everted lower lip vermilio... |
ORPHA:2429 |
| Fryns Syndrome |
|
Omphalocele, Tented upper lip vermilion, Aganglionic megacolon, Median cleft lip, Congenital diap... |
ORPHA:2059 |
| Radio-Renal Syndrome |
|
Micromelia, Micrognathia, Short neck, High, narrow palate, Hypoplasia of the radius, Abnormal rib... |
ORPHA:3015 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Prolonged QRS complex, Left axis deviation, Pericardial effusion, Congestive heart fail... |
OMIM:261740 |
| Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav... |
ORPHA:2769 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Bone pain, Pectus carinatum, Downtu... |
ORPHA:955 |
| Mosaic Trisomy 9 |
|
Polyhydramnios, Micrognathia, Micromelia, Short neck, Hemivertebrae, Hydrops fetalis, Finger clin... |
ORPHA:99776 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Accessory oral frenulum, Micrognathia, Pectus excavatum, Hamartoma of tongue, Pos... |
OMIM:258860 |
| Jansen-De Vries Syndrome |
|
Thin upper lip vermilion, Hyperlordosis, Parietal foramina, Central diaphragmatic hernia, Small h... |
OMIM:617450 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Proximal placement of thumb, Micrognathia, Short neck, Limited elbow movement, Brachycephaly, Dow... |
OMIM:610759 |
| 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, Vert... |
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, Vert... |
ORPHA:352665 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Abnormality of the temporomandibular joint, Absent muscle fiber merosin, Facial palsy, ... |
ORPHA:258 |
| Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal occipital bone morphology, Abnormal tibia morphology, Bone... |
ORPHA:249 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Abnormally ossified vertebrae, Polyhydramnios, Micrognathia, Missing ribs,... |
ORPHA:3301 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Frontal bossing, Arachnodactyly, High, narrow palate, Kyphosis, Joint hyperflexibility, Shoulder ... |
ORPHA:2181 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Thin upper lip vermilion, Tapered finger, Brachycephaly, Downturned corners of mouth, Clinodactyl... |
ORPHA:352530 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Frontal bossing, Optic atrophy, Brachycephaly, Dystonia |
OMIM:264470 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thin upper lip vermilion, Redundant neck skin, Short lingual frenulum, Joint hypermobility, Polyh... |
OMIM:617360 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Inguinal hernia, Redundant neck skin, Flat occiput, Death in infancy, P... |
OMIM:235255 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Postaxial hand polydactyly, Hyperextensible skin |
OMIM:615937 |
| Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Clinodactyl... |
OMIM:616580 |
| Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Increased number of skin folds, Redundant skin, Cutis laxa |
ORPHA:436274 |
| Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, De... |
OMIM:112350 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... |
ORPHA:2521 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Papilledema, Osteopenia, Arthropathy, Abnormal hand morphology, Sclerotic cranial su... |
ORPHA:371428 |
| Diaphanospondylodysostosis |
|
Absent in utero ossification of vertebral bodies, Micrognathia, Short neck, Vertebral segmentatio... |
OMIM:608022 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Microretrognathia, Spinal muscular atrophy, Multiple prenatal fractures, Flexion contracture, Inc... |
OMIM:616866 |
| Kyphomelic Dysplasia |
|
Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Pterygium, Short ... |
OMIM:211350 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Micrognathia, Pectus excavatum, Long fingers, Short neck, Brachycephaly, Cleft palate, High palat... |
OMIM:156610 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Marshall Syndrome |
|
Thickened calvaria, Frontal bossing, Micrognathia, Hypoplasia of the maxilla, Abnormality of the ... |
ORPHA:560 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Thin upper lip vermilion, Congenital hip dislocation, Frontal bo... |
ORPHA:457279 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Micrognathia, Pectus excavatum, ... |
ORPHA:1979 |
| Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Proximal placement of thumb, Missing ribs, Cleft u... |
OMIM:304050 |
| Variant Abeta2M Amyloidosis |
|
Intestinal perforation, Spinal cord compression, Abnormality of the tongue, Abnormal skeletal mus... |
ORPHA:314652 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Fetal Akinesia Deformation Sequence |
|
Intestinal hypoplasia, Multiple joint contractures, Camptodactyly of finger, Polyhydramnios, Micr... |
ORPHA:994 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Craniofacial dystonia, Plantar flexion contracture, Arthrogryposis-like ... |
OMIM:620011 |
| 9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Abnormal tongue morphology, Downturned corners of mouth, Hip dysplasia, Vertebr... |
ORPHA:531151 |
| Doors Syndrome |
|
Short lingual frenulum, Polyhydramnios, Abnormal finger morphology, Hemivertebrae, Brachycephaly,... |
ORPHA:79500 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Micrognathia, Short neck, Tremor, Brachycephaly, Widely spaced teeth, High... |
OMIM:612474 |
| Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Frontal bossing, 2-3 toe syndactyly, Brachycephaly, High palate, Short philtrum, Hernia, Talipes ... |
ORPHA:3306 |
| Lateral Meningocele Syndrome |
|
Dental crowding, Micrognathia, Short neck, High, narrow palate, Abnormal form of the vertebral bo... |
ORPHA:2789 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Mandibular prognathia, Prominent metopic ridge, Kyphosis, Cleft palate, Short philtrum, Scoliosis |
ORPHA:85317 |
| Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pericardial ef... |
ORPHA:199241 |
| Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Micrognathia, Short neck, Choreoathetosis, High palate, Short philtrum, Clinodactyly of the 5th f... |
OMIM:620224 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... |
OMIM:301040 |
| Williams Syndrome |
|
Osteopenia, Redundant skin, Micrognathia, Periorbital edema, Tremor, Rectal prolapse, Abnormal fo... |
ORPHA:904 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Death in infancy, Turricephaly, Arachnodactyly, Polyhydramnios, Micrognathia, Type 1 muscle fiber... |
OMIM:619036 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Pectus carinatum, Joint hyperflexibility, Lower limb hypertonia, Upper limb hypertonia,... |
OMIM:614898 |
| Buerger Disease |
|
Vasculitis, Acrocyanosis |
ORPHA:36258 |
| Spondylo-Ocular Syndrome |
|
Abnormal intervertebral disk morphology, Facial hypotonia, Short neck, Osteoporosis, Joint hyperf... |
ORPHA:85194 |
| Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Turricephaly, Camptodactyly of finger, Premature loss of primary teeth, Abnorm... |
ORPHA:2907 |
| Axial Osteomalacia |
|
Myopathy |
OMIM:109130 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Hypoplastic ischia, Micrognathia, Bowing of the legs, Gingival overgrowt... |
ORPHA:313855 |
| White-Sutton Syndrome |
|
Ventral hernia, Thin upper lip vermilion, Inguinal hernia, Joint laxity, Facial hypotonia, Congen... |
ORPHA:468678 |
| Synaptic Congenital Myasthenic Syndromes |
|
Mandibular prognathia, Skeletal muscle atrophy, Scapular winging, Abnormality of the knee, Facial... |
ORPHA:98915 |
| Aldh18A1-Related De Barsy Syndrome |
|
Joint hyperflexibility, Hyperextensible skin |
ORPHA:35664 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy |
ORPHA:369840 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipodystrophy, Micrognathia, Kypho... |
OMIM:615381 |
| Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Papilledema, Inguinal hernia, Intestinal pseudo-obstruction, Short nec... |
OMIM:309900 |
| Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnor... |
ORPHA:1328 |
| 8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia |
DECIPHER:39 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers, Polyhydramnios |
OMIM:616794 |
| X-Linked Hypophosphatemia |
|
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... |
ORPHA:89936 |
| Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Distal amyotrophy, Hyperextensible skin, Joint hypermobility |
OMIM:608895 |
| Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Scoliosis, Cutis laxa |
OMIM:614434 |
| Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig... |
ORPHA:235 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Tented upper lip vermilion, Kyphosis, 2-3 toe syndactyly, Cleft palate, Pectus c... |
OMIM:616449 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Hyperextensibility of the finger joints, Inguinal hernia, Hyperextensibility a... |
OMIM:130000 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat... |
OMIM:618150 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Tremor, Kyphosis, Optic atrophy, Skeletal muscle hypertrophy, Scoliosis, Abnormal nerve conductio... |
ORPHA:99014 |
| Cenani-Lenz Syndactyly Syndrome |
|
Premature loss of permanent teeth, Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia... |
OMIM:212780 |
| 15Q Overgrowth Syndrome |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... |
ORPHA:314585 |
| Cornelia De Lange Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Proximal placement of thumb, Micromelia, Short nec... |
ORPHA:199 |
| Fg Syndrome Type 1 |
|
Dental crowding, Micrognathia, Generalized joint laxity, Abnormal sternum morphology, Fused teeth... |
ORPHA:93932 |
| Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Joint stiffness, Carious teeth, Kyphosis, Skin ulcer, Scoliosis |
ORPHA:2047 |
| Ayme-Gripp Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Brachydactyly, Delayed cranial suture closure, A... |
OMIM:601088 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Cleft upper lip, Micrognathia, Abnormal rib morphology, Cleft palate, Abnormality of the vertebra... |
OMIM:601076 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis |
OMIM:300653 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora... |
OMIM:304120 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Frontal bossing, Sacral dimple, Inguinal hernia, Micrognathia, Pectus excavatum, Kyphosis, Wide a... |
OMIM:618272 |
| 4Q21 Microdeletion Syndrome |
|
Frontal bossing, Toe syndactyly, Micromelia, Abnormality of the dentition, Short neck, Kyphosis, ... |
ORPHA:238750 |
| High Altitude Pulmonary Edema |
|
Hypoxemia, Tachycardia, Cyanosis, Pulmonary edema |
ORPHA:330012 |
| Pontocerebellar Hypoplasia, Type 3 |
|
Optic disc pallor, High, narrow palate, Optic atrophy, Brachycephaly, Downturned corners of mouth... |
OMIM:608027 |
| Arthrogryposis, Distal, Type 4 |
|
Osteopenia, 2-5 finger cutaneous syndactyly, Torticollis, Kyphosis, Cranial asymmetry, Camptodact... |
OMIM:609128 |
| Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's... |
ORPHA:261494 |
| Lowry-Maclean Syndrome |
|
Osteopenia, Inguinal hernia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the m... |
ORPHA:2409 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Ankle flexion contracture, Decreased nerve conduction velocity, Choreoathetosis,... |
ORPHA:319514 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Kyphoscoliosis, Flexion contracture, High palate, Increased variability in muscle f... |
OMIM:616470 |
| Acquired Methemoglobinemia |
|
Tachycardia, Cyanosis, Hypoxemia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Arachnodactyly, Pectus excavatum, Brachycephaly, Pectus carinatum, Plagiocephaly, Scoliosis, Toe ... |
OMIM:619910 |
| Primrose Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of the maxilla, Flexion contracture, Brachycephaly, Knee flex... |
OMIM:259050 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Facial palsy, Spinal rigidity, Kyphosis, Ragged-red muscle fibers... |
OMIM:615084 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Neurogenic bladder, Death in infancy, Micrognathia, Protruding tongue, S... |
OMIM:608779 |
| Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L... |
OMIM:620067 |
| Noonan Syndrome 14 |
|
Scapular winging, Polyhydramnios, Short neck, Pectus excavatum, High, narrow palate, Kyphosis, Pe... |
OMIM:619745 |
| Immunodeficiency 49 |
|
Natal tooth, Micrognathia, Cutis laxa, Short philtrum, Wormian bones, Umbilical hernia |
OMIM:617237 |
| Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Sho... |
OMIM:619636 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... |
ORPHA:1106 |
| Triploidy |
|
Omphalocele, Finger syndactyly, Intestinal malrotation, Polyhydramnios, Micrognathia, Short neck,... |
ORPHA:3376 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Polyhydramnios, Micrognathia, Brachycephaly, Posterior rib fusion, Neonatal death, Nonimmune hydr... |
OMIM:265380 |
| Fucosidosis |
|
Decreased muscle mass, Lipoatrophy, Abnormality of the dentition, Kyphosis, Brachycephaly, Anteri... |
ORPHA:349 |
| Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Short metacarpal, Cleft upper lip, Pectus excavatum, Optic atrophy, Brachy... |
OMIM:201180 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Frontal bossing, Recurrent fractures, Tracheomalacia, Micrognathia, Abnormality of t... |
ORPHA:2108 |
| Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Midface retrusion, Aplasia/Hypoplasia of the tongue, Polyhydramnios, Craniosyno... |
ORPHA:1790 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers, Nonimmune hydrops fetalis, Upper limb postural tremor |
ORPHA:477774 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Short neck, Alveolar ridge overgrowth, Cleft palate, Drumstick terminal phalan... |
OMIM:612938 |
| Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Inguinal hernia, Front... |
OMIM:252940 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Micrognathia, 2-3 toe syndactyly, Cleft palate, Small thenar eminence, Abnormali... |
OMIM:239800 |
| Hypophosphatasia |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Ab... |
ORPHA:436 |
| Frontorhiny |
|
Pericallosal lipoma, Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Hy... |
ORPHA:391474 |
| Congenital Myopathy 15 |
|
Osteopenia, Polyhydramnios, Fatty replacement of skeletal muscle, Increased variability in muscle... |
OMIM:620161 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Brachycephaly, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, Cleft lip, La... |
OMIM:280000 |
| Acrocraniofacial Dysostosis |
|
Turricephaly, Craniosynostosis, Micrognathia, Pectus excavatum, Tapered finger, Coxa valga, Cleft... |
ORPHA:949 |
| Pseudoaminopterin Syndrome |
|
Limited elbow movement, Micrognathia, Orofacial cleft, High palate, Short philtrum, Patchy reduct... |
ORPHA:221120 |
| Chime Syndrome |
|
Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,... |
ORPHA:3474 |
| Renpenning Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Macrodontia, Micrognathia, Pectus excavatum, Nar... |
OMIM:309500 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Menkes Disease |
|
Micrognathia, Hyperextensible skin, Narrow chest, Hernia, Osteoporosis, Joint hyperflexibility, U... |
ORPHA:565 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... |
ORPHA:1307 |
| Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Polyhydramnios, Micrognathia, Short neck, De... |
OMIM:115150 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Short distal phalanx of toe, Frontal bossing, Inguinal hernia, Delayed skeletal maturation, Brach... |
ORPHA:1292 |
| Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Arachnodactyly, Edema, Micrognathia, Pectus excavatum, Cleft lip, Partial duplicat... |
OMIM:618348 |
| Kinsship Syndrome |
|
Mandibular prognathia, Osteopenia, Micrognathia, Short neck, Downturned corners of mouth, Short p... |
OMIM:619297 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Micrognathia, Short thumb, Hypoplasia of th... |
OMIM:227270 |
| Distal Deletion 3P |
|
Sacral dimple, Inguinal hernia, Micrognathia, Short neck, Postaxial hand polydactyly, Brachycepha... |
ORPHA:1620 |
| Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Thin upper lip vermilion, Frontal bossing, Tethered cord, Tapered finger, Short thumb, Brachyceph... |
OMIM:616728 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Craniosynostosis, Pectus excavatum, Pyloric stenosis, ... |
ORPHA:314575 |
| Mucolipidosis Iii Gamma |
|
Short neck, Flat capital femoral epiphysis, Hyperlordosis, Kyphosis, Joint stiffness, Genu valgum... |
OMIM:252605 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Facial palsy, Kyphosis, Ankle clonu... |
OMIM:211530 |
| Spinocerebellar Ataxia With Epilepsy |
|
Myopathy |
ORPHA:254881 |
| Noonan Syndrome With Multiple Lentigines |
|
Scapular winging, Pectus excavatum, Aplasia/Hypoplasia of the abdominal wall musculature, Brachyc... |
ORPHA:500 |
| 12Q14 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Frontal bossing, Intestinal malrotation, Micrognathia, Tremor, Osteopoik... |
ORPHA:94063 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Inguinal hernia, Abnormality of the dentition, Tapered finger, Thick lower lip vermi... |
ORPHA:261652 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Neuropathic spinal arthropathy, Tongue atrophy, Optic ... |
ORPHA:99949 |
| Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Decreased muscle mass, Flexion contracture, Optic atro... |
OMIM:615663 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ragged-red muscle fibers |
OMIM:615159 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Kyphoscoliosis, Protruding tongue, Abnormal thumb morphology, Contractures... |
ORPHA:324410 |
| Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Furrowe... |
OMIM:615108 |
| Hereditary Methemoglobinemia |
|
Athetosis, Cyanosis, Limb dystonia |
ORPHA:621 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint m... |
OMIM:313400 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Syndactyly, Toe syndactyly, Intestinal malrotation, Congenital diaphragmatic hernia,... |
OMIM:601163 |
| W Syndrome |
|
Hypoplasia of the ulna, Radial bowing, Metatarsus adductus, Elbow dislocation, Clinodactyly, Subm... |
ORPHA:2804 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Cleft upper lip, Brachycephaly, Cleft palate, Scoliosis, Bifid uvula |
OMIM:300958 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Frontal bossing, Down-sloping shoulders, Micrognathia, Open bite, Deep philtru... |
ORPHA:1974 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Flexion contracture, Optic atrophy, Left ventricular noncompaction, Inc... |
OMIM:252011 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Everted upper lip vermilion, Sandal gap, Camptodactyly of finger, Rocker bottom fo... |
OMIM:619951 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Methylmalon... |
ORPHA:17 |
| Short Stature, Brussels Type |
|
Microretrognathia, Delayed epiphyseal ossification, Narrow chest, Calcification of cartilage |
ORPHA:2867 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Mandibular prognathia, Cervical kyphosis, Tapered finger, Short neck, Small hand, Short clavicles |
ORPHA:401923 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Decreased distal sensory nerve action po... |
ORPHA:99956 |
| Osteoglosphonic Dysplasia |
|
Abnormal clavicle morphology, Inguinal hernia, Rhizomelia, Craniosynostosis, Micrognathia, Delaye... |
ORPHA:2645 |
| Omodysplasia 2 |
|
Short humerus, Frontal bossing, Tented upper lip vermilion, Bilateral cleft lip, Micrognathia, An... |
OMIM:164745 |
| Noonan Syndrome 2 |
|
Polyhydramnios, Micrognathia, Pectus excavatum, Short neck, Increased nuchal translucency, Cubitu... |
OMIM:605275 |
| Gm1-Gangliosidosis, Type I |
|
Frontal bossing, Inguinal hernia, Thickened ribs, Death in infancy, Short neck, Joint stiffness, ... |
OMIM:230500 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Optic atrophy, Increased variabi... |
OMIM:258450 |
| Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Camptodactyly of finger, Intestinal malrotation, Protruding tongue, Ove... |
OMIM:300963 |
| Agel Amyloidosis |
|
Tongue atrophy, Facial palsy, Edema, Xerostomia, Cutis laxa, Blepharochalasis, Dry skin, Orthosta... |
ORPHA:85448 |
| Kearns-Sayre Syndrome |
|
Progressive intervertebral space narrowing, Skeletal muscle atrophy, Delayed skeletal maturation,... |
ORPHA:480 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... |
ORPHA:600 |
| Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode |
OMIM:610992 |
| Cerebrocostomandibular Syndrome |
|
Death in infancy, Spina bifida, Micrognathia, Tracheomalacia, Kyphosis, Posterior rib gap, Cleft ... |
ORPHA:1393 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Skeletal muscle hypertrophy, Mus... |
OMIM:613327 |
| Marfan Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Dental crowding, Limited elbow movement, Micrognathia, High,... |
ORPHA:558 |
| Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, ... |
OMIM:264700 |
| Williams-Beuren Syndrome |
|
Osteopenia, Rectal prolapse, Flexion contracture, Microdontia, Clinodactyly of the 5th finger, Jo... |
OMIM:194050 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Postaxial polydactyly, Micrognat... |
OMIM:617866 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Optic disc pallor, Sandal gap, Congenital diaphragmatic hernia, Long philtrum |
OMIM:300887 |
| Hurler-Scheie Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Thenar muscle atrophy, Micrognathia, Contracture of the... |
OMIM:607015 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Cleft lip, Kyphosis, Hemivertebrae, Brachycephaly, Narrow palate, Cleft palate, Contr... |
OMIM:618223 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Lateral clavicle... |
OMIM:617895 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Brachycephaly, Limb tremor |
OMIM:300699 |
| Occipital Horn Syndrome |
|
Osteopenia, High, narrow palate, Coxa vara, Pectus carinatum, Humerus varus, Hyperextensible skin... |
ORPHA:198 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Lingual dystonia, Paroxysmal choreoathetosis, Ragged-red muscle fibers |
OMIM:500003 |
| Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Dental crowding, Micrognathia, Short neck, Anteriorly placed anus, P... |
OMIM:305450 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... |
OMIM:602111 |
| Congenital Fibrinogen Deficiency |
|
Tachycardia, Cyanosis, Opisthotonus, Bruising susceptibility, Internal hemorrhage, Subcutaneous h... |
ORPHA:335 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
| Baralle-Macken Syndrome |
|
Tapered finger, High, narrow palate, Kyphosis, Dystonia, Striae distensae |
OMIM:619255 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,... |
OMIM:610682 |
| Iniencephaly |
|
Omphalocele, Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Polyhydramnios, Hyp... |
ORPHA:63259 |
| Cat-Eye Syndrome |
|
Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology, Anal atresia |
ORPHA:195 |
| Harrod Syndrome |
|
Arachnodactyly, Kyphosis, Dental malocclusion, Abnormal shoulder morphology, Joint hyperflexibili... |
ORPHA:2115 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Thin upper lip vermilion, Finger syndactyly, Toe syndactyly, Lip pit, Micrognathia, Joint stiffne... |
ORPHA:1300 |
| Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormality of the philtrum, Abnormal oral mucosa morphology, Hypoplasia o... |
ORPHA:2673 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Kyphosis, Flexion contracture, Small hand, Brachycephaly, Short foot, Plagiocephaly, Hip dysplasi... |
ORPHA:500055 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Carious teeth, Kyphosis, Joint contracture of the 5th fi... |
ORPHA:1883 |
| Restrictive Dermopathy 2 |
|
Microretrognathia, Rectal prolapse, Hypoplastic facial bones, Overtubulated long bones, Short cla... |
OMIM:619793 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Short toe, Brachycephaly, Malar flattening, Short phal... |
OMIM:600430 |
| Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ... |
OMIM:277170 |
| Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Furrowe... |
OMIM:615109 |
| Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Brachydactyly, Lipodystrophy, Redundant skin, M... |
OMIM:209885 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakn... |
ORPHA:466768 |
| O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Dolichocephaly, Tapered finger |
OMIM:618512 |
| Pfeiffer Syndrome |
|
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Mandibular prognathia, Joint hypermobility, Protruding tongue, Prominent crus of helix, Tapered f... |
OMIM:617804 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Smooth philtrum, Joint laxity, Sacral dimple, Postaxial polydactyly, Abnormality of the dentition... |
OMIM:300968 |
| Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Calcification of the auricular cartilage, Osteomalacia, Polyhydramnios, ... |
ORPHA:51608 |
| Enlarged Parietal Foramina |
|
Craniosynostosis, Parietal foramina, Cleft lip, Cleft palate, Short clavicles, Broad thumb |
ORPHA:60015 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Sternocleidomastoid amyotrophy, Short neck, Delayed skeletal maturation, Abnormal rib... |
ORPHA:488434 |
| Seckel Syndrome 10 |
|
Microretrognathia, Slender long bone, Metaphyseal widening, Cone-shaped epiphysis |
OMIM:617253 |
| Halperin-Birk Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Optic atroph... |
OMIM:618651 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Tremor, Downturned corners of mouth, Hypoplastic vertebral bodies, Short philtrum, Pr... |
ORPHA:3455 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy, Tremor, Optic atrophy, Focal dystonia, Limb dystonia, Oromandibular dystonia |
ORPHA:216873 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Aplastic clavicle, Congenital diaphragmatic hernia, Accessory oral frenulum, Hama... |
OMIM:616546 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnorm... |
ORPHA:2636 |
| Desanto-Shinawi Syndrome |
|
Thin upper lip vermilion, Short neck, Brachycephaly, Downturned corners of mouth, Midface retrusion |
OMIM:616708 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Redundant neck skin, Proximal placement of thumb, Micrognathia, Short neck, Wide ante... |
OMIM:217980 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Polyhydramnios, Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone... |
OMIM:615633 |
| Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Straight clavicles, Multiple impacted teeth, Short clavicles,... |
OMIM:113300 |
| Dystonia-Aphonia Syndrome |
|
Macroglossia, Abnormal mitochondrial shape |
ORPHA:412217 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Hand tremor, Ankle clonus, Scoliosis, Head tremor, Limb muscle weakness, Lower limb mus... |
OMIM:614409 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Thin upper lip vermilion, Inguinal hernia, Diastasis recti, Polyhydramnios, Micrognathia, Pectus ... |
OMIM:618548 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Missing ribs, Absent thumb, Absent radius, Humeroradial synostosis, Sho... |
OMIM:251230 |
| Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa... |
OMIM:305600 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Palpebral edema, Kyph... |
ORPHA:261144 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thorac... |
OMIM:271510 |
| Down Syndrome |
|
Short palm, Joint laxity, Redundant neck skin, Aganglionic megacolon, Sandal gap, Protruding tong... |
OMIM:190685 |
| Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate... |
ORPHA:2753 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Myopathy |
ORPHA:166002 |
| Zimmermann-Laband Syndrome 2 |
|
Short neck, Kyphosis, Deep philtrum, Gingival overgrowth, Macroglossia, Thick vermilion border |
OMIM:616455 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Turricephaly, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Ab... |
ORPHA:1005 |
| 2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Frontal bossing, Congenital diaphragmatic he... |
ORPHA:1001 |
| Elastosis Perforans Serpiginosa |
|
Cutis laxa |
ORPHA:79148 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hand muscle atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormal lower motor ... |
OMIM:205100 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Frontal bossing, Lumbar hyperlordosis, Dental crowding, Broad hallux, S... |
OMIM:616078 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Polyhydramnios, Death in childhood, Neonatal death, Increased variability in mu... |
OMIM:619334 |
| Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Short palm, Dental crowding, Micrognathia, Pectus excavatum, Abnormality of the dentition, Unilat... |
ORPHA:476126 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Redundant neck skin, Dental crowding, Polyhydramnios, Short neck, Rectal prolapse, Short metatars... |
OMIM:617157 |
| Adenylosuccinase Deficiency |
|
Skeletal muscle atrophy, Thin upper lip vermilion, Prominent metopic ridge, Brachycephaly, Opisth... |
OMIM:103050 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Sacral dimple, Optic nerve hypoplasia, Brachycephaly, Clinodactyly of the 5th finger, Smooth phil... |
OMIM:618828 |
| Specific Granule Deficiency 2 |
|
Osteopenia, Death in infancy, Sandal gap, Conical tooth, Amelogenesis imperfecta, Hyperextensible... |
OMIM:617475 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Skeletal muscle atrophy, Frontal bossing, Abnormal large intestine morpholo... |
ORPHA:109 |
| Auriculocondylar Syndrome 1 |
|
Dental crowding, Micrognathia, Narrow mouth, Ankylosis, Dental malocclusion, Cleft palate, Anteri... |
OMIM:602483 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Thickened calvaria, Frontal bossing, Joint laxity, Dental crowding, Kyphoscoliosis... |
OMIM:300967 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Brachycephaly, Anal atresia |
ORPHA:93950 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Brachycephaly, Orofacial cleft, High palate, Clinodactyly of the 5th finger, Bifid uvula, Abnorma... |
OMIM:607872 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature |
OMIM:616239 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc... |
OMIM:255125 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thin upper lip vermilion, Macrodontia, Thoracolumbar scoliosis, Micrognathia, Hyperlordosis, Kyph... |
OMIM:618443 |
| Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High palate, Abnormality of... |
ORPHA:861 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachycardia, Cyanosis, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract ob... |
ORPHA:860 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Redundant neck skin, Micrognathia, Proximal femoral metaphyseal irregularity, Early ossification ... |
ORPHA:397715 |
| Crouzon Syndrome |
|
Mandibular prognathia, Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hypoplasia of... |
OMIM:123500 |
| Oculodentodigital Dysplasia |
|
Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Abnormal form of the vertebral... |
ORPHA:2710 |
| Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Cyanosis, Left-to-right shunt, Right ventricular failure, Third heart ... |
ORPHA:1329 |
| Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly, Radi... |
OMIM:300337 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Tented upper lip vermilion, Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Craniofacia... |
OMIM:618476 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Joint laxity, Joint stiffness, Thick vermilion border, Cutis laxa |
OMIM:314400 |
| Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Facial palsy, Congenital diaphragmatic hernia, Microgn... |
OMIM:301022 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Frontal bossing, Postaxial polydactyly, Kyphosis, Kn... |
OMIM:603387 |
| 1P36 Deletion Syndrome |
|
Brachycephaly, Clinodactyly of the 5th finger, Abnormality of the anus, Rib fusion, Spinal canal ... |
ORPHA:1606 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Abnormally loud pulmonic component of the second heart sound, Cyanosis, Left... |
ORPHA:99104 |
| Diamond-Blackfan Anemia |
|
Nonimmune hydrops fetalis, Cleft soft palate, Micrognathia, Absent thumb, Cleft lip, Short thumb,... |
ORPHA:124 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossification, Flexion contracture, Preax... |
OMIM:210710 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... |
OMIM:610017 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Thickened calvaria, Recurrent fractures, Persistence of primary teeth, Pectus excavatum, Microgna... |
ORPHA:2785 |
| X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:85329 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Flat occiput, Dental crowding, Micrognathia, Deep philtrum, Dehydration, G... |
ORPHA:534 |
| Craniosynostosis 6 |
|
Turricephaly, Delayed cranial suture closure, Craniosynostosis, Parietal foramina, Brachycephaly,... |
OMIM:616602 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Micromelia, Micrognathia, Anisospondyly, Short long bone, Talipes equin... |
OMIM:224410 |
| Prader-Willi Syndrome |
|
Osteopenia, Decreased muscle mass, Polyhydramnios, Downturned corners of mouth, Short palm, Synda... |
OMIM:176270 |
| Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Short neck, Abnormality of the gingiva, Tibial bowing... |
ORPHA:798 |
| Septopreoptic Holoprosencephaly |
|
Anteriorly placed anus, Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
| Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Tremor, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly o... |
ORPHA:2750 |
| Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
| Masa Syndrome |
|
Kyphosis, Hyperlordosis, Talipes equinovarus, Adducted thumb |
OMIM:303350 |
| Xq28 (MECP2) duplication |
|
Death in childhood, Malar flattening, Brachycephaly, Narrow mouth |
DECIPHER:45 |
| Myopathy, Myofibrillar, 1 |
|
EMG: myopathic abnormalities, Facial palsy |
OMIM:601419 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Optic nerve hypoplasia, Delayed closure of the anterior fontanelle, Brachycephaly, ... |
OMIM:618736 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Dry skin, Optic atrophy, Brachycephaly, Cutis laxa |
OMIM:612379 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Decreased compound muscle action potential amplitude, Osteoarthritis, Small the... |
OMIM:620080 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Pectus excavatum, Kyphosis, Flexion co... |
ORPHA:3042 |
| Bruck Syndrome |
|
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... |
ORPHA:2771 |
| Williams-Beuren Region Duplication Syndrome |
|
Micrognathia, Diastema, Brachycephaly, High palate, Short philtrum |
OMIM:609757 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... |
ORPHA:1517 |
| Autosomal Dominant Cutis Laxa |
|
Osteopenia, Redundant neck skin, Genu recurvatum, Redundant skin, Abnormal curvature of the verte... |
ORPHA:90348 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Frontal bossing, Anal stenosis, Congenital diaphragmatic hernia, Polyhydramnios, Micrognathia, Tr... |
OMIM:614080 |
| Macrocephaly/Autism Syndrome |
|
Joint laxity, Frontal bossing, Cutis laxa, High palate, Biparietal narrowing, Long philtrum, Midf... |
OMIM:605309 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Micrognathia, Head titubation, Kyphosis, Dolichocephaly, Optic atrophy, Knee flexion contracture,... |
OMIM:619708 |
| X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Redundant skin, Ileus, Athetosis, Joint hyperflexibility, Dystonia, Malar ... |
ORPHA:52503 |
| Craniolenticulosutural Dysplasia |
|
Osteopenia, High palate, Narrow chest, Bifid uvula, Joint laxity, Wide anterior fontanel, Hypopla... |
OMIM:607812 |
| Acrogeria |
|
Lipoatrophy, Micrognathia, Small hand, Skin ulcer, Short foot, Excessive wrinkled skin, Joint hyp... |
ORPHA:2500 |
| Moderate Hemophilia A |
|
Arthropathy, Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joi... |
ORPHA:169805 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f... |
OMIM:608670 |
| Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Downturned corners of mouth, Deep philtrum, Brachycephaly |
OMIM:618859 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Short neck, Micrognathia, Kyphosis, Scoliosis, Microdontia, Synostosis of carpal... |
ORPHA:3191 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Arachnodactyly, Hyperlordosis, U... |
ORPHA:261330 |
| Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Erythema, Scoliosis, Dry skin |
ORPHA:816 |
| Asbestos Intoxication |
|
Cyanosis, Edema, Right ventricular failure, Hypoxemia, Hepatojugular reflux, Oxygen desaturation ... |
ORPHA:2302 |
| Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Flat occiput, Dental crowding, Hypoplasia of the maxilla, Brachycephaly, C... |
OMIM:614188 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Flat occiput, Intestinal malrotation, Micrognathia, Short neck, Bilateral cleft lip and palate, C... |
ORPHA:2001 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o... |
OMIM:268305 |
| Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula... |
OMIM:252600 |
| Renal Hypodysplasia/Aplasia 2 |
|
Redundant skin |
OMIM:615721 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... |
OMIM:184100 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Dystonia, Head titubation... |
ORPHA:300605 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Limb-girdle muscle weakness, Myopathy |
ORPHA:1215 |
| Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Frontal bossing, Median cleft lip, Aganglionic megacolon, Sandal gap, H... |
OMIM:174300 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Proximal muscle weakness in uppe... |
OMIM:613954 |
| Sengers Syndrome |
|
Myopathy |
OMIM:212350 |
| Xanthinuria, Type I |
|
Myopathy |
OMIM:278300 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Flat occiput, Jejunal atresia, Polyhydramnios, Tapered finger, High, narrow palate, Narrow palate... |
OMIM:612949 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Polyhydramnios, Facial edema, Atrophy of the spinal cord, Abnormal cartilage ma... |
ORPHA:86822 |
| Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Hypo... |
OMIM:225500 |
| Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Craniofacial hyperostosis, Inguinal hernia, Abnormality of the dent... |
ORPHA:581 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Facial palsy, Furrowed tongue |
ORPHA:2743 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Inguinal hernia, Thickened ribs, Abnormal dental morphology, Camptodactyly of finger... |
ORPHA:217085 |
| Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Furrowe... |
OMIM:158350 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Gen... |
ORPHA:2831 |
| Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Decreased muscle mass, Dental crowding, Micrognathia, High, narrow palate, Downturned corners of ... |
ORPHA:96182 |
| Mend Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Asymmetry of t... |
ORPHA:401973 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Mandibular prognathia, Hip contracture, Kyphosis, Optic atrophy, Elbow flexion contracture, Genu ... |
OMIM:618493 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
| Coffin-Siris Syndrome 11 |
|
Frontal bossing, Prominent metopic ridge, Cleft soft palate, Esophageal atresia, Small hand, Down... |
OMIM:618779 |
| Distal Deletion 15Q |
|
Thin upper lip vermilion, Flat occiput, Congenital diaphragmatic hernia, Micrognathia, Abnormalit... |
ORPHA:1596 |
| Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Kyphosis, Flexion contracture... |
ORPHA:90322 |
| Pallister-Hall Syndrome |
|
Hemivertebrae, Anteriorly placed anus, Neonatal death, Distal shortening of limbs, Syndactyly, Me... |
OMIM:146510 |
| Chiari Malformation Type Ii |
|
Cyanosis, Spina bifida, Myelomeningocele, Opisthotonus, Cervical myelopathy |
OMIM:207950 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Kyphosis, Flexion contracture, Optic atrophy, An... |
OMIM:609541 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
| Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Coxa valga, Joint stiffness, Optic atrophy, Gingival overgrowth, Hypoplastic v... |
OMIM:230600 |
| Pentalogy Of Cantrell |
|
Omphalocele, Congenital diaphragmatic hernia, Non-midline cleft lip, Abnormal tibia morphology, S... |
ORPHA:1335 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Short thorax, Genu valgum, Downturned corners of mouth, Reduced bone minera... |
ORPHA:2983 |
| Kleefstra Syndrome 2 |
|
Kyphosis, Plagiocephaly, Everted lower lip vermilion, Scoliosis, Midface retrusion, Bifid uvula |
OMIM:617768 |
| Noonan Syndrome |
|
Lymphedema, Pectus excavatum, Micrognathia, Delayed skeletal maturation, Aplasia/Hypoplasia of th... |
ORPHA:648 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Brachycephaly, Oligodontia, Abnormal met... |
ORPHA:2095 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Inguinal hernia, Thickened ribs, Abnormal dental morphology, Camptodactyly of finger... |
ORPHA:217093 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Inguinal hernia, Micrognathia, Pectus excavatum, Kyphosis, High palate, Short philtrum, Radial de... |
OMIM:609944 |
| Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Micrognathia, Protruding tongue, Bilateral camptodactyly, Elbow flexi... |
OMIM:619777 |
| Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Omphalocele, Inguinal hernia, Otosclerosis, Prominent metopic ridge, Redun... |
ORPHA:116 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Frontal bossing, Inguinal hernia, Congenital hip dislocation, Dystonia, Persistent open anterior ... |
ORPHA:357058 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Limb hypertonia, Dystonia, Kyphosis, Pectus carinatum |
ORPHA:500180 |
| Fetal Encasement Syndrome |
|
Omphalocele, Upper limb undergrowth, Congenital diaphragmatic hernia, Lower limb undergrowth |
OMIM:613630 |
| Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Midface... |
ORPHA:93258 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ... |
OMIM:615418 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
| Limb Body Wall Complex |
|
Congenital diaphragmatic hernia, Cutaneous finger syndactyly, Aplasia of the proximal phalanges o... |
ORPHA:2369 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva... |
ORPHA:2772 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Frontal bossing, Micrognathia, Tapered finger, Kyphosis, Joint hyperflexibility, Ever... |
ORPHA:2479 |
| Ferguson-Bonni Neurodevelopmental Syndrome |
|
Pectus excavatum, High palate, Congenital diaphragmatic hernia, Micrognathia |
OMIM:619699 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Finger syndactyly, Pectus excavatum, Kyphosis, Asymmetry of the thorax, ... |
ORPHA:1969 |
| Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Muscula... |
ORPHA:559 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Hand polydactyly, Brachycephaly, Brachydactyly |
ORPHA:2377 |
| Atelosteogenesis Type Iii |
|
Polyhydramnios, Micrognathia, Short tubular bones of the hand, Knee dislocation, High palate, Sho... |
ORPHA:56305 |
| Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Joint dislocation, Joint laxity, Alveolar bone loss around teeth, Inguinal hernia, Arachnodactyly... |
OMIM:130080 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Bradycardia, Dystonia, Acrocyanosis, Intention tremor |
OMIM:614407 |
| Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia |
OMIM:607398 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect |
OMIM:608681 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... |
OMIM:134780 |
| Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Brachycephaly, Partial duplication of the distal phalanx of the 3rd fi... |
OMIM:101400 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers |
OMIM:619024 |
| Diamond-Blackfan Anemia 1 |
|
Micrognathia, Short neck, Hypoplastic coccygeal vertebrae, High palate, Pallor, Narrow chest, Tri... |
OMIM:105650 |
| Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Redundant skin, Cutis laxa |
ORPHA:91135 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Dense metaphyseal bands, Osteopenia, Generalized lipodystrophy, Slender long bones with narrow di... |
ORPHA:50811 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, Short philtrum, Wi... |
OMIM:301044 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Congenital diaphragmatic hernia, Micrognathia, Cleft palate, Bifid uvula, Midface retrusion |
OMIM:606164 |
| Lopes-Maciel-Rodan Syndrome |
|
Tremor, Kyphosis, Small hand, Short foot, Ankle clonus, Scoliosis, Dystonia |
OMIM:617435 |
| Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Posterior plagiocephaly, Oligodontia, Widely spaced teeth, Short 4th toe, Ad... |
OMIM:615873 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Myopathy, Limb-girdle muscular dystrophy |
ORPHA:369847 |
| Lig4 Syndrome |
|
Malabsorption, Micrognathia, Erythema, Brachycephaly, Thin vermilion border, Biparietal narrowing... |
ORPHA:99812 |
| Immunodeficiency 10 |
|
Myopathy |
OMIM:612783 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Joint laxity, Aganglionic megacolon, Hyperlordosis, Pectus excavatum, High, ... |
OMIM:162300 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Pericardial effusion, Hypoxemia, Hypertension, Peripheral edema, Pleural effusion |
ORPHA:79126 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Generalized amyotrophy, Ragged-red muscle fibers, Pallor |
OMIM:613561 |
| Axenfeld-Rieger Syndrome |
|
Anal stenosis, Redundant skin, Hypoplasia of the maxilla, Everted lower lip vermilion, Hypodontia... |
ORPHA:782 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Inguinal hernia, Camptodactyly of finger, Hypoplasia of the musculature, D... |
ORPHA:1101 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Thoracic scoliosis, Pulmonary edema, Polyhydramnios, Edema, ... |
ORPHA:79330 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyphoscoliosis, Metaphy... |
ORPHA:2976 |
| Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Ham... |
ORPHA:2751 |
| Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Abnormality of the dentition, Osteoporosis, Cleft palate, Corneal ... |
ORPHA:90354 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Frontal bossing, Hamartoma of tongue, Micrognathia, Tremor, Ce... |
ORPHA:2754 |
| Primary Lateral Sclerosis, Juvenile |
|
Decreased compound muscle action potential amplitude, Spasticity of facial muscles, Pallor, Abnor... |
OMIM:606353 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2234 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Redundant neck skin, Flat occiput, Polyhydramnios, Mic... |
ORPHA:1655 |
| Mycophenolate Mofetil Embryopathy |
|
Congenital diaphragmatic hernia, Micrognathia, Tracheoesophageal fistula, Orofacial cleft, Hydrop... |
ORPHA:268249 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Eclabion, Dry skin, Scaling skin, Cutis laxa |
ORPHA:2269 |
| Aspergillosis |
|
Sinusitis, Osteomyelitis, Abnormal rib morphology, Abnormal long bone morphology, Abnormality of ... |
ORPHA:1163 |
| Granulomatous Slack Skin |
|
Erythema, Redundant skin, Cutis laxa |
ORPHA:33111 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Inguinal hernia, Facial hypotonia, Dental crowding, Protruding tongue, Submucous cleft hard palat... |
OMIM:618106 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Craniosynostosis, Coxa valga, Delayed skeletal maturation, Brachycephaly, Hypoplastic vertebral b... |
ORPHA:2163 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly, Oligodactyly |
OMIM:614416 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Microretrognathia, Thin upper lip vermilion, Sacral dimple, Dystonia, Flat occiput, Osteopenia, S... |
OMIM:300966 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Joint hypermobility, Hiatus hernia, Increased connective tissue, Proximal amyotrophy, Atrophic sc... |
OMIM:606408 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Inguinal hernia, Dystonia, Redundant skin, Pyloric stenosis, Wide anterior fontanel... |
ORPHA:90349 |
| Neurofibromatosis Type 1 |
|
Recurrent fractures, Joint stiffness, Kyphosis, Genu valgum, Slender long bone, Multiple lipomas,... |
ORPHA:636 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Cleft upper lip, H... |
OMIM:607597 |
| Eosinophilic Fasciitis |
|
Muscular edema, Acrocyanosis, Edema |
ORPHA:3165 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin... |
OMIM:276820 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis |
ORPHA:713 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Midface retrusion, Short femur, Dental crowd... |
OMIM:300990 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to... |
ORPHA:989 |
| 16Q24.3 Microdeletion Syndrome |
|
Frontal bossing, Optic nerve hypoplasia, Proximal placement of thumb, Micrognathia, Kyphosis, Wid... |
ORPHA:261250 |
| Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:1876 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Diamond-Blackfan Anemia 10 |
|
Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Micrognathia, Cleft palate, Super... |
OMIM:613309 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Frontal bossing, Bulging epiphyses, Flat occiput, Enlargement of the ankles, Recurrent fractures,... |
OMIM:600081 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Sacral dimple, Inguinal hernia, Cleft soft palate, Tapered finger, Pectus excavatu... |
ORPHA:268261 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Frontal bossing, Dental crowding, Polyhydramnios, Optic nerve dysplasia, Brachycephaly, Plagiocep... |
OMIM:617296 |
| Familial Isolated Hypoparathyroidism |
|
Myopathy |
ORPHA:2238 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Thin upper lip vermilion, Inguinal hernia, Congenital diaphragmatic hernia, Microgna... |
OMIM:618454 |
| Mucolipidosis Type Ii |
|
Hip contracture, Inguinal hernia, Prominent metopic ridge, Diastasis recti, Craniosynostosis, Lim... |
ORPHA:576 |
| Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Spinal cord compression, Kyphosis, Proximal femoral metaphyseal ... |
OMIM:113500 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Polyhydramnios, Accessory oral frenulum, Postaxial polydactyly, Supernumerary t... |
OMIM:617088 |
| Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Microretrognathia, Optic neuropathy, Kyphoscoliosis, Pectus excavatum, Delayed skeletal maturatio... |
OMIM:620237 |
| Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Everted lower lip... |
OMIM:252930 |
| Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Prominent crus of helix, Slender finger, Small hand, Brachycephaly, Cleft ... |
ORPHA:1449 |
| Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Joi... |
OMIM:182250 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
| Amyloidosis, Finnish Type |
|
Cutis laxa |
OMIM:105120 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Thin upper lip vermilion, Ulnar deviation of the 3rd finger, Proximal placement of thumb, Long fi... |
OMIM:616263 |
| Cog1-Cdg |
|
Osteopenia, Thin upper lip vermilion, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosi... |
ORPHA:263508 |
| Cerebrooculonasal Syndrome |
|
Frontal bossing, Optic nerve hypoplasia, Postaxial polydactyly, Proboscis, Craniosynostosis, Post... |
OMIM:605627 |
| Fibromuscular Dysplasia, Multifocal |
|
Striae distensae, Dental crowding, Joint hypermobility, Micrognathia, Pectus excavatum, Hiatus he... |
OMIM:619329 |
| Orofaciodigital Syndrome Xv |
|
Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Midline notch of uppe... |
OMIM:617127 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... |
ORPHA:444013 |
| Werner Syndrome |
|
Skeletal muscle atrophy, Increased bone mineral density, Lipodystrophy, Rocker bottom foot, Lipoa... |
ORPHA:902 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Frontal bossing, Abnormality of the dentition, Conical tooth, Brachycephaly, Intrauterine growth ... |
ORPHA:228390 |
| Rett Syndrome |
|
Skeletal muscle atrophy, Abnormality of the dentition, Kyphosis, Short foot, Scoliosis, Dystonia |
OMIM:312750 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Distal arthrogryposis, Myopathy |
ORPHA:42 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Frontal bossing, Enlargement of the ankles, Flat occiput, Wide cranial... |
ORPHA:289157 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Myopathy |
OMIM:613077 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Joint laxity, Short neck, Thick lower lip vermilion, Flared metaphysis, Advanced ossification of ... |
OMIM:610442 |
| Ablepharon Macrostomia Syndrome |
|
Omphalocele, Toe syndactyly, Redundant skin, Camptodactyly of finger, Hypoplasia of the maxilla, ... |
ORPHA:920 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Opisthotonus |
OMIM:250800 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size |
ORPHA:2348 |
| Elastoderma |
|
Premature skin wrinkling, Cutis laxa |
ORPHA:228240 |
| Chanarin-Dorfman Syndrome |
|
Myopathy |
OMIM:275630 |
| Chromosome 15Q25 Deletion Syndrome |
|
Inguinal hernia, Tented upper lip vermilion, Flat occiput, Congenital diaphragmatic hernia, Cleft... |
OMIM:614294 |
| Holoprosencephaly |
|
Flat occiput, Congenital diaphragmatic hernia, Short neck, Deep philtrum, Abnormal form of the ve... |
ORPHA:2162 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Tented upper lip vermilion, Kyphosis, Brachycephaly, High palate, Short... |
OMIM:619244 |
| Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
| Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... |
ORPHA:137888 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Vertebral fusion, Frontal bossing, Optic nerve hypoplasia, Missing ribs, Eso... |
OMIM:206900 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Myopathy |
ORPHA:363400 |
| Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Brachycephaly, High palate, Widely spaced teeth, Solitary median maxi... |
ORPHA:66625 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Thin upper lip vermilion, Short humerus, Short femur, Sandal gap, Rhizomelia, Polyhydramnios, Ede... |
OMIM:607143 |
| Parietal Foramina With Cleidocranial Dysplasia |
|
Parietal foramina, Short clavicles, Widely patent fontanelles and sutures |
OMIM:168550 |
| Congenital Diaphragmatic Hernia |
|
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia |
ORPHA:2140 |
| Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Turricephaly, Abnormal dental enamel morphology, Camptodactyly of finger, Prem... |
ORPHA:2908 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers, Intestinal pseudo-obstruction, Malabsorption |
OMIM:613662 |
| Hyperkalemic Periodic Paralysis |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Myopathy |
ORPHA:682 |
| Congenital Disorder Of Deglycosylation 1 |
|
Facial hypotonia, Small hand, Brachycephaly, Intrinsic hand muscle atrophy, Osteoporosis, Short f... |
OMIM:615273 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Torticollis, Hemidystonia, Tapered finger, Tremor, Submucous cleft hard... |
OMIM:619680 |
| Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Micrognathia, Short neck, Brachycephaly, Tetraphocomelia, Knee flexion contractur... |
OMIM:268300 |
| Snakebite Envenomation |
|
Edema, Angioedema, Erythema, Rhabdomyolysis, Muscle fiber necrosis, Gingival bleeding, Ecchymosis |
ORPHA:449285 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
| Floating-Harbor Syndrome |
|
Short neck, Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, ... |
OMIM:136140 |
| Lymphangiectasia, Intestinal |
|
Edema, Malabsorption, Pedal edema, Stillbirth, Intestinal lymphangiectasia, Prominent floating ribs |
OMIM:152800 |
| Marfanoid Habitus With Situs Inversus |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Arachnodactyly, Genu recurvatum, ... |
OMIM:609008 |
| Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Macular purpura, Acrocyanosis, Internal hemorrhage |
ORPHA:49566 |
| Hsd10 Disease, Infantile Type |
|
Choreoathetosis, Hypertrophic cardiomyopathy, Cyanosis, Dystonia |
ORPHA:391428 |
| Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
| Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Congenital diaphragmatic hernia, Malabsorption |
ORPHA:99811 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... |
ORPHA:79083 |
| Hydrolethalus |
|
Polyhydramnios, Micrognathia, Micromelia, Postaxial hand polydactyly, Submucous cleft hard palate... |
ORPHA:2189 |
| Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Knee flexion contracture, Distal amyotrophy, Skeletal myopathy, Lower li... |
ORPHA:3208 |
| Marfan Syndrome |
|
Decreased muscle mass, Dental crowding, Genu recurvatum, Micrognathia, Equinus calcaneus, Incisio... |
OMIM:154700 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Redundant neck skin, Edema, Brachydactyly |
OMIM:610498 |
| Developmental And Epileptic Encephalopathy 80 |
|
Optic disc pallor, Death in infancy, Tented upper lip vermilion, Micrognathia, Protruding tongue,... |
OMIM:618580 |
| Kabuki Syndrome |
|
Abnormal dental morphology, Congenital diaphragmatic hernia, Lip pit, Abnormality of the dentitio... |
ORPHA:2322 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, 2-3 toe syndactyly, Downturned corners of mouth, Lobulated tongue, Shor... |
OMIM:613443 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:604377 |
| Adrenomyodystrophy |
|
Myopathy |
ORPHA:977 |
| Codas Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Proximal placement of thumb, Broad skull, Generalized... |
OMIM:600373 |
| Noonan Syndrome 8 |
|
Polyhydramnios, Short neck, Abnormal sternum morphology, Hyperextensible skin, Palmoplantar cutis... |
OMIM:615355 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
| Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition |
OMIM:216300 |
| Acro-Renal-Ocular Syndrome |
|
Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Aganglionic megacolon, Toe synda... |
ORPHA:959 |
| Warburg Micro Syndrome 2 |
|
Overlapping toe, Flexion contracture, Optic atrophy, Brachycephaly, Clinodactyly of the 4th toe, ... |
OMIM:614225 |
| Autosomal Dominant Omodysplasia |
|
Short humerus, Frontal bossing, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation... |
ORPHA:93328 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Flat occiput, Femoral hernia, Protruding tongue, Brachycephaly, Downturned corne... |
ORPHA:96147 |
| Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Kyphosis,... |
ORPHA:1855 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperlordosis, Kyphosis, Short toe, Delayed skeletal maturation, Keloids, Dry skin, Brachydactyly |
ORPHA:3085 |
| Intellectual Developmental Disorder, X-Linked 1 |
|
Brachycephaly |
OMIM:309530 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Brachydactyly, Tented upper lip vermilion, Exaggerated cupid's bow, Prominent metopic ridge, Abno... |
ORPHA:364577 |
| Cardiofacioneurodevelopmental Syndrome |
|
Micrognathia, Cleft lip, Kyphosis, Cleft palate, Camptodactyly, Clinodactyly of the 5th finger, B... |
OMIM:619123 |
| Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Pyloric stenosis, Brachycephaly, Abnormal shape of the occiput, Malar flattening... |
OMIM:218350 |
| Muscle-Eye-Brain Disease |
|
Myopathy |
ORPHA:588 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormal rib morphology, Tracheoesophageal fistula, Abnor... |
ORPHA:93941 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261102 |
| Aspartylglucosaminuria |
|
Joint laxity, Kyphosis, Delayed skeletal maturation, Thick lower lip vermilion, Hypoplastic front... |
OMIM:208400 |
| Carnitine Deficiency, Systemic Primary |
|
Myopathy, Reduced muscle carnitine level |
OMIM:212140 |
| Opitz Gbbb Syndrome |
|
Omphalocele, Natal tooth, Inguinal hernia, Prominent metopic ridge, Congenital diaphragmatic hern... |
ORPHA:2745 |
| Fibrinolytic Defect |
|
Hyperextensible skin |
OMIM:134900 |
| Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Supraventricular tachycardia, Tricuspid regurgitation, Asci... |
ORPHA:97214 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
| Hypotonia-Cystinuria Syndrome |
|
Frontal bossing, Tented upper lip vermilion, Facial palsy, Ragged-red muscle fibers, Dolichocephaly |
OMIM:606407 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal sclerosis, Enlarge... |
OMIM:260400 |
| Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Metaphyseal wid... |
ORPHA:93357 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Skeletal muscle atrophy, Scapular winging, Myopathy, Weakness of facial musculature |
ORPHA:98673 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Flat occiput, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin v... |
OMIM:617412 |
| Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Submucous cleft hard palate, Optic atrophy, Cleft palate, Muscular dystr... |
ORPHA:899 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Paroxysmal dystonia, Kyphosis, Intrauterine growth retardation, Limb hypertonia |
OMIM:619909 |
| Spinocerebellar Ataxia 28 |
|
Lower limb hypertonia, Ragged-red muscle fibers, Dystonia |
OMIM:610246 |
| Costello Syndrome |
|
Barrel-shaped chest, Hyperextensibility of the finger joints, Redundant neck skin, Polyhydramnios... |
OMIM:218040 |
| Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
| Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Dental crowding, Abnormality of the d... |
ORPHA:769 |
| Coffin-Siris Syndrome 12 |
|
Joint laxity, Frontal bossing, Midface retrusion, Facial palsy, Micrognathia, Pectus excavatum, C... |
OMIM:619325 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness |
OMIM:112250 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue |
ORPHA:663 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Joint laxity, Inguinal hernia, Genu recurvatum, Pectus excavatum, Calcaneovalgus deformity, Atrop... |
OMIM:225320 |
| Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Polyhydramnios, ... |
OMIM:609465 |
| Schisis Association |
|
Omphalocele, Congenital diaphragmatic hernia, Micromelia, Spina bifida, Tracheoesophageal fistula... |
ORPHA:63862 |
| Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
| Leber Optic Atrophy |
|
Myopathy |
OMIM:535000 |
| Craniorachischisis |
|
Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Spinal dysraphism, Sirenomel... |
ORPHA:63260 |
| Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Tricuspid regurgitation, Cyanosis, Blood pressure substantially high... |
ORPHA:2299 |
| Pontine Tegmental Cap Dysplasia |
|
Facial palsy, Head titubation, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis |
OMIM:614688 |
| Fumarase Deficiency |
|
Decreased fumarate hydratase activity, Intrahepatic cholestasis, Hyperbilirubinemia, Hepatic fail... |
OMIM:606812 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Barrel-shaped chest, Short humerus, Bowing of the long bones, Osteopenia, Increased bone mineral ... |
OMIM:239000 |
| Noonan Syndrome 10 |
|
Short neck, Pectus excavatum, Increased nuchal translucency, Pectus carinatum, Hyperextensible sk... |
OMIM:616564 |
| Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Lymphedema, Malabsorption, Tapered finger, Hypogeusia, Furrowed tongue, Ham... |
ORPHA:2930 |
| Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thi... |
OMIM:203500 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Skeletal muscle atrophy, Type 2 muscle fiber predominance, Short foot, Choreoathetosis, Plagiocep... |
OMIM:615471 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Adducted thumb, Short philtrum, Retrognathia, Smooth philtrum, Oligohydramnios |
ORPHA:293725 |
| Auriculocondylar Syndrome 3 |
|
Glossoptosis, Retrognathia, Bifid uvula, Micrognathia |
OMIM:615706 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Skeletal muscle atrophy, Joint hyperflexibility, Hyperextensible skin, Spina bifida occulta, Join... |
ORPHA:230839 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Inguinal hernia, Cleft soft palate, Increased nuchal translucency, Pier... |
OMIM:620183 |
| Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Bifid uvula, Joint laxity, Ar... |
ORPHA:284984 |
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Choreoathetosis, Athetosis, Brachycephaly |
OMIM:309541 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Multiple lipomas, Ragged-red muscle fibers, Lower limb pain, Increased adipose tissue |
ORPHA:1349 |
| Acromelic Frontonasal Dysplasia |
|
Median cleft lip, Midline central nervous system lipomas, Brachycephaly, Patellar hypoplasia, Wid... |
ORPHA:1827 |
| Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Omphalocele, Short metacarpal, Toe syndactyly, Redundant skin, Anteriorly placed ... |
OMIM:200110 |
| Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Optic nerve hypoplasia, Cleft upper lip, Parietal ... |
OMIM:603671 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Tapered finger, Hyperlordosis, Cleft lip, Limited elbow extension, Hip dislocation, Cleft palate,... |
OMIM:301066 |
| 1Q41Q42 Microdeletion Syndrome |
|
Frontal bossing, Congenital diaphragmatic hernia, Submucous cleft hard palate, Cleft palate, Thic... |
ORPHA:250999 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Prominent metopic ridge, Short neck, Tented philtrum, Patellar aplasia, Brachycephaly, Patellar h... |
ORPHA:495818 |
| Pallister-Hall Syndrome |
|
Hemivertebrae, Bifid uvula, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Accessory or... |
ORPHA:672 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Polyhydramnios, Optic disc coloboma, Cleft palate, Cutis laxa, Rectovagin... |
OMIM:270420 |
| Familial Visceral Myopathy |
|
Aganglionic megacolon, Camptodactyly of finger, Arachnodactyly, Micrognathia, Joint stiffness, Ap... |
ORPHA:2604 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Natal tooth, Thoracic scoliosis, Thin upper lip vermilion, Broad hallux, Facial palsy, Polyhydram... |
OMIM:620186 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Diastasis recti, Polyhydramnios, Coat hanger sign of ribs, Umbilical hernia, Thoraci... |
ORPHA:254534 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Thin upper lip vermilion, Lumbar hyperlordosis, Progressive flexion contractures, E... |
ORPHA:522077 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Frontal bossing, Short lingual frenulum, Bowed humerus, Flexion co... |
OMIM:619479 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy, Writer's cramp, Hyp... |
OMIM:128100 |
| Seckel Syndrome 9 |
|
Congenital diaphragmatic hernia, Polyhydramnios, Micrognathia, Scaphocephaly, Talipes equinovarus... |
OMIM:616777 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Midface retrusion, Redundant neck skin, Overlapping toe, Flat occiput, Cloverleaf sk... |
OMIM:123790 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Cyanosis, Pericardial effusion, Hypoxemia, Intrauterine growth retardati... |
ORPHA:555874 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Mandibular prognathia, Joint laxity, Lumbar hyperlordosis, Facial hypotonia, Arachnodactyly, Kyph... |
ORPHA:457359 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Micrognathia, Short neck, Widely-spaced maxillary central incisors, H... |
OMIM:309580 |
| Cockayne Syndrome A |
|
Mandibular prognathia, Tremor, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, ... |
OMIM:216400 |
| Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Pyloric stenosis, Elbow flexion contracture, Increased variability in ... |
OMIM:619461 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Intrauterine growth retardation, Cyanotic episode |
ORPHA:284417 |
| Meester-Loeys Syndrome |
|
Joint dislocation, Frontal bossing, Arachnodactyly, Joint hypermobility, Dolichocephaly, Gingival... |
OMIM:300989 |
| Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Congenital hip dislocation, Redundant skin, High, narrow palate, Abnormality o... |
ORPHA:286 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Truncal titubation, Kyphosis, Abnormal spinal cord morphology, Abnormal sensory ne... |
ORPHA:88628 |
| Charge Syndrome |
|
Delayed eruption of teeth, Brachydactyly, Facial palsy, Polyhydramnios, Cleft upper lip, Abnormal... |
ORPHA:138 |
| Adnp Syndrome |
|
Joint laxity, Thin upper lip vermilion, Inguinal hernia, Broad hallux, Sandal gap, Trigonocephaly... |
ORPHA:404448 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia |
ORPHA:664 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Flat occiput, Brachycephaly |
ORPHA:2898 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Myopathy |
ORPHA:257 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy |
ORPHA:367 |
| Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Micrognathia, Pectus excavatum, Thick lower lip vermilion, Narrow palate, Hyperextensible skin, S... |
ORPHA:555877 |
| Jaberi-Elahi Syndrome |
|
Joint stiffness, Tremor, Kyphosis, Optic atrophy, Pectus carinatum, Choreoathetosis, Talipes equi... |
OMIM:617988 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Thin upper lip vermilion, Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodac... |
OMIM:619557 |
| Spinocerebellar Ataxia Type 36 |
|
Skeletal muscle atrophy, Tongue atrophy, Hand tremor, Tongue fasciculations, Head tremor, Intenti... |
ORPHA:276198 |
| Atypical Rett Syndrome |
|
Tremor, Kyphosis, Small hand, Short foot, Pill-rolling tremor, Scoliosis, Dystonia |
ORPHA:3095 |
| Tolchin-Le Caignec Syndrome |
|
Arachnodactyly, Diastasis recti, Micrognathia, Submucous cleft hard palate, Scaphocephaly, Oxycep... |
OMIM:618971 |
| Cardiofaciocutaneous Syndrome 4 |
|
Joint laxity, Optic nerve hypoplasia, Polyhydramnios, Pectus excavatum, Hyperextensible skin, Sco... |
OMIM:615280 |
| X-Linked Intellectual Disability, Wilson Type |
|
Mandibular prognathia, Inguinal hernia, Brachycephaly, Wide mouth, Thick vermilion border |
ORPHA:85290 |
| Cranioectodermal Dysplasia 1 |
|
High, narrow palate, High palate, Narrow chest, Widely spaced teeth, Microdontia, Anodontia, Join... |
OMIM:218330 |
| Desmosterolosis |
|
Frontal bossing, Increased bone mineral density, Intestinal malrotation, Micromelia, Micrognathia... |
ORPHA:35107 |
| Branchiooculofacial Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Clinodactyly of the 5th finger, Facial pal... |
OMIM:113620 |
| Criss-Cross Heart |
|
Cyanosis, Tricuspid stenosis, Pulmonic stenosis, Mitral stenosis, Supravalvular aortic stenosis |
ORPHA:1461 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Talipes equinovarus, Tented upper lip vermilion, Brachycephaly, Long philtrum |
OMIM:619972 |
| Gabriele-De Vries Syndrome |
|
Distal lower limb amyotrophy, Hallux valgus, Abnormality of upper lip vermillion, Facial hypotoni... |
ORPHA:506358 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Mandibular prognathia, Limitation of movement at ankles, Flat occiput, Protruding tongue, Tremor,... |
ORPHA:98794 |
| Ring Chromosome 22 Syndrome |
|
Edema, Protruding tongue, Lymphedema, 2-3 toe syndactyly, Large hands, Thick vermilion border, Do... |
ORPHA:1446 |
| Solar Urticaria |
|
Edema, Periorbital edema, Angioedema, Abnormal tongue morphology, Abnormal lip morphology |
ORPHA:97230 |
| Seckel Syndrome 2 |
|
Microdontia, Microglossia, Clinodactyly of the 5th finger, Micrognathia |
OMIM:606744 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Cyanosis, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, M... |
ORPHA:2326 |
| Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:543470 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Abnormal finger morphology, Phocomelia, Microgastria, Aplastic c... |
ORPHA:2538 |
| Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... |
OMIM:311200 |
| Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi... |
ORPHA:740 |
| Geleophysic Dysplasia 1 |
|
Short palm, Osteopenia, Camptodactyly of finger, Coxa valga, Pectus excavatum, Joint stiffness, L... |
OMIM:231050 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Generalized dystonia, Brachycephaly |
ORPHA:70472 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis |
OMIM:263000 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Tented upper lip vermilion, Sandal gap, Small hand, Brachycephaly, Short foot, Thick vermilion bo... |
OMIM:618885 |
| Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Super... |
OMIM:615948 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, Optic nerve hypoplasia, Polyhydramnios, Micrognathia, 2-3 to... |
OMIM:620025 |
| Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Turricephaly, Abnormal scapula morphology, Iliac crest serration, Accelerated s... |
ORPHA:93317 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal dental enamel ... |
ORPHA:464 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Wormian bones, Hyperlordosis, Kyphosis, H... |
OMIM:617821 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Finger syndactyly, Toe syndactyly, Micrognathia, Delayed skeletal maturation... |
ORPHA:264200 |
| Peters Plus Syndrome |
|
Polyhydramnios, Micrognathia, Micromelia, Short neck, Brachycephaly, Widely spaced teeth, Clinoda... |
ORPHA:709 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Frontal bossing, Dental crowding, Micrognathia, Kyphosis, Increased femoral anteversion, Plagioce... |
OMIM:619005 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Micrognathia, Hydrops fetalis, Narrow chest, Absent or minimally ossified vertebral b... |
ORPHA:93271 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Severe periodontitis, Palpebral edema, Overlapping toe, Protruding tongue,... |
ORPHA:99843 |
| Immunodeficiency 9 |
|
Myopathy |
OMIM:612782 |
| X-Linked Intellectual Disability, Armfield Type |
|
Mandibular prognathia, Inguinal hernia, Micrognathia, Abnormality of the elbow, Small hand, Brach... |
ORPHA:85276 |
| Congenital Myopathy 9A |
|
EMG: myopathic abnormalities |
OMIM:618822 |
| Achard Syndrome |
|
Joint laxity, Arachnodactyly, Micrognathia, Broad skull, Brachycephaly |
OMIM:100700 |
| Sandhoff Disease |
|
Kyphosis |
ORPHA:796 |
| Floating-Harbor Syndrome |
|
Enlarged joints, Short neck, Hypoplasia of the maxilla, Oligodontia, Humeral pseudarthrosis, Shor... |
ORPHA:2044 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Tapered finger, Long ... |
ORPHA:521445 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Resting tremor, Hiatus hernia, Delayed skeletal maturation, Abnormal pelvic girdle bone morpholog... |
OMIM:601162 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Frontal bossing, Lumbar hyperlordosis, Micrognathia, Cleft lip, Optic atrophy, Furrow... |
OMIM:616975 |
| Hypokalemic Periodic Paralysis |
|
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology |
ORPHA:681 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Abnormality of the dentition, Flexion contracture, Limitatio... |
ORPHA:90153 |
| Bardet-Biedl Syndrome 8 |
|
Brachycephaly, Postaxial polydactyly |
OMIM:615985 |
| Peters-Plus Syndrome |
|
Short lingual frenulum, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Proximal placeme... |
OMIM:261540 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Flat occiput, Protruding tongue, Gingival overgrowth, Brachycephaly, Wide mouth, Tracheomalacia, ... |
OMIM:618797 |
| Chylomicron Retention Disease |
|
Myopathy, EMG: myopathic abnormalities |
ORPHA:71 |
| Overlap Myositis |
|
Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Perifascicu... |
ORPHA:206572 |
| Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Redundant neck skin, Proximal placement of thumb, Trigonocephaly, Adducted thumb, Narrow palate, ... |
OMIM:604314 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis, Pallor |
ORPHA:2786 |
| Schilbach-Rott Syndrome |
|
Micrognathia, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger cutaneous syn... |
OMIM:164220 |
| Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Sacral dimple, Genu recurvatum, Tapere... |
OMIM:619539 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Broad hallux, Polyhydramnios, Protruding tongue, Micro... |
OMIM:617062 |
| Donnai-Barrow Syndrome |
|
Omphalocele, Intestinal malrotation, Congenital diaphragmatic hernia, Wide anterior fontanel, Umb... |
ORPHA:2143 |
| Scleromyxedema |
|
Myopathy, Hypoperistalsis, Abnormal skeletal muscle morphology |
ORPHA:167635 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Protruding tongue, Micrognathia, Malabsorption, Macroglossia, Malar flattening |
OMIM:242860 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Abnormality of the gingiva, Osteoarthritis, Gingivitis, Hyperextensible skin, ... |
ORPHA:285 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Premature loss of prima... |
ORPHA:667 |
| Microphthalmia, Syndromic 1 |
|
Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, High palate, Narrow chest... |
OMIM:309800 |
| Agnathia-Otocephaly Complex |
|
Polyhydramnios, Micrognathia, Tracheomalacia, Aglossia, Cleft palate, Narrow mouth, Mandibular ap... |
OMIM:202650 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Intestinal malrotation, Brachycephaly, Genu valgum, Wide mouth, Posterior plagioceph... |
OMIM:617798 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Decreased muscle mass, Atrophic muscularis propria, Ra... |
ORPHA:298 |
| Loeys-Dietz Syndrome |
|
Joint dislocation, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Micrognathia, Pectu... |
ORPHA:60030 |
| Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Myop... |
ORPHA:98908 |
| Sepsis In Premature Infants |
|
Tachycardia, Cyanosis, Edema, Jaundice, Bradycardia, Hypotension, Petechiae, Purpura |
ORPHA:90051 |
| Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Pectus excavatum, Bilateral cleft lip and palate, High palate, Malar fl... |
OMIM:618874 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Inguinal hernia, Tapered toe, Polyhydramnios, Tapered finger, Celiac disease, Incr... |
ORPHA:544488 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Thin upper lip vermilion, Toe clinodactyly, Dystonia, Sandal gap, Optic ne... |
OMIM:620330 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness |
OMIM:616479 |
| Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Optic disc coloboma, Aglossia, Malar flatte... |
OMIM:241310 |
| Meckel Syndrome, Type 1 |
|
Micrognathia, Short neck, Lobulated tongue, Syndactyly, Cleft upper lip, Postaxial foot polydacty... |
OMIM:249000 |
| Acromegaly |
|
Mandibular prognathia, Broad jaw, Frontal bossing, Palpebral edema, Macrodactyly, Abnormality of ... |
ORPHA:963 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Weakness of facial musculature, Flexion contracture, Myopathy |
OMIM:201470 |
| Aspartylglucosaminuria |
|
Mandibular prognathia, Thickened calvaria, Inguinal hernia, Abnormal morphology of ulna, Abnormal... |
ORPHA:93 |
| Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Cyanosis, Tachycardia, Atrial fibrillation, Congestive heart failur... |
ORPHA:980 |
| 1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Inguinal hernia, Toe syndactyly, Frontal bossing, Short foot, Joint hyperfl... |
ORPHA:250989 |
| Mucopolysaccharidosis, Type Iiia |
|
Inguinal hernia, Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Umbil... |
OMIM:252900 |
| Pallister-Killian Syndrome |
|
Edema of the dorsum of feet, Tented upper lip vermilion, Congenital hip dislocation, Polyhydramni... |
OMIM:601803 |
| Ivic Syndrome |
|
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... |
ORPHA:2307 |
| Somatomammotropinoma |
|
Mandibular prognathia, Broad jaw, Frontal bossing, Palpebral edema, Macrodactyly, Abnormality of ... |
ORPHA:314769 |
| Loeys-Dietz Syndrome 2 |
|
Micrognathia, Pectus carinatum, Abnormal sternum morphology, Bifid uvula, Joint laxity, Syndactyl... |
OMIM:610168 |
| Melkersson-Rosenthal Syndrome |
|
Facial palsy, Edema, Periorbital edema, Cheilitis, Furrowed tongue, Macroglossia, Abnormal autono... |
ORPHA:2483 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Cyanosis, Atrial fibrillation, Congestive heart failur... |
ORPHA:31826 |
| Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93260 |
| Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myopathy, Rhabdomyolysis |
ORPHA:228305 |
| Birk-Barel Syndrome |
|
Microretrognathia, Reduced subcutaneous adipose tissue, Sacral dimple, Tented upper lip vermilion... |
OMIM:612292 |
| Proteus Syndrome |
|
Decreased muscle mass, Lymphedema, Abnormal finger morphology, Abnormal form of the vertebral bod... |
ORPHA:744 |
| Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Aplasia/Hypoplasia of the thumb, Dental crowding, Aplasia/Hy... |
OMIM:219000 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness |
OMIM:609286 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Micrognathia, Delayed skeletal maturation, Bell-shaped thorax, Horizontal ribs |
OMIM:614857 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Edema, Kyphosis, Osteoporosis, Facial erythema, Biconcave vertebral bodi... |
OMIM:219090 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Thin upper lip vermilion, Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal... |
OMIM:618050 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Pulmonic stenosis, Opisthotonus |
ORPHA:3304 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Congenital hip dislocation, Brachycephaly, Abnormal periodontium morphology, High pal... |
ORPHA:480880 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Vasculitis, Erythema, Urticaria, Acrocyanosis, Purpura |
ORPHA:343 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Mandibular prognathia, Kyphosis, Scoliosis |
OMIM:300861 |
| Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibil... |
OMIM:166220 |
| Bilateral Perisylvian Polymicrogyria |
|
Micrognathia, Pectus excavatum, Protruding tongue, Flexion contracture, Abnormality of masticator... |
ORPHA:98889 |
| Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
EMG: myopathic abnormalities |
ORPHA:457365 |
| Cowden Syndrome |
|
Pectus excavatum, Kyphosis, Furrowed tongue, Hamartomatous polyposis, Macroglossia, High palate, ... |
ORPHA:201 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Short palm, Metaphyseal dysplasia, Thickened calvaria, Optic neuropathy, Dolichocephaly, Increase... |
OMIM:619727 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Death in infancy, Cleft upper lip, Spinal rigidity, Cleft palate, Skeletal muscle hypertrophy, Ma... |
OMIM:613150 |
| Mend Syndrome |
|
Microretrognathia, Sacral dimple, Redundant neck skin, Broad hallux, Overlapping toe, Micrognathi... |
OMIM:300960 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Brachycephaly, Craniosynostosis, Midface retrusion |
OMIM:612247 |
| Dravet Syndrome |
|
Cyanotic episode, Action tremor |
ORPHA:33069 |
| Phocomelia, Schinzel Type |
|
Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal tibia morphology, Hydrops fet... |
ORPHA:2879 |
| Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Abnormality of the temporomandibular joint, Incisional hernia, Rectal prolapse, Osteo... |
ORPHA:287 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hemivertebrae, Brachycephaly, Femoral bowing, Anteriorly placed anus, Cloverleaf skull, Arachnoda... |
OMIM:201750 |
| Frontonasal Dysplasia 2 |
|
Craniosynostosis, Conical tooth, Parietal foramina, Calvarial skull defect, Brachycephaly, Widely... |
OMIM:613451 |
| Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Thin upper lip vermilion, Frontal bossing, Prominent metopic ridge, Optic atrophy, Brachycephaly,... |
OMIM:608688 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Sandal gap, Dolichocephaly, High, narrow palate, Submu... |
OMIM:612863 |
| Perlman Syndrome |
|
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Congenital diaphra... |
OMIM:267000 |
| Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
| Meckel Syndrome 14 |
|
Occipital encephalocele, Tricuspid regurgitation, Cyanosis, Increased nuchal translucency, Mitral... |
OMIM:619879 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Clinodactyly of the 5th finger, Optic atrophy, Brachycephaly |
ORPHA:1173 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Cyanosis, Tachycardia, Atrial fibrillation, Junct... |
ORPHA:137675 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita |
OMIM:617143 |
| Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Midface retrusion, Polyhydramnios, Short neck, Kyphosis, Con... |
ORPHA:420794 |
| Cockayne Syndrome B |
|
Mandibular prognathia, Tremor, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, ... |
OMIM:133540 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Ankle flexion contracture, Polyhydramnios, Pectus excavatum, Tapered finger, S... |
ORPHA:464311 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inguinal hernia, Prominent metopic ridge, Facial hypotonia, Optic nerve hypoplasia, Broad hallux,... |
ORPHA:457284 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Optic disc pallor, Multiple joint contractures, Arachnodactyly, Toe syndactyly, Pe... |
ORPHA:464306 |
| Carcinoid Syndrome |
|
Myopathy |
ORPHA:100093 |
| Lysinuric Protein Intolerance |
|
Skeletal muscle atrophy, Recurrent fractures, Delayed skeletal maturation, Osteoporosis, Cutis la... |
OMIM:222700 |
| Witteveen-Kolk Syndrome |
|
Congenital diaphragmatic hernia, Polyhydramnios, Proximal placement of thumb, High, narrow palate... |
OMIM:613406 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Death in infancy, Redundant neck skin, Edema, Retrognathia, Ascites |
OMIM:611719 |
| Craniofacial Microsomia 1 |
|
Block vertebrae, Hypoplasia of facial musculature, Micrognathia, Hypoplasia of the maxilla, Cleft... |
OMIM:164210 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak... |
OMIM:157640 |
| Aicardi-Goutieres Syndrome 1 |
|
Dystonia, Erythema, Vasculitis, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Petech... |
OMIM:225750 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
EMG: myopathic abnormalities |
OMIM:620326 |
| Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormal fifth cranial nerve morphology, Abnormality ... |
ORPHA:353253 |
| Micro Syndrome |
|
Micrognathia, Joint stiffness, Kyphosis, Optic atrophy, High palate, Short philtrum, Scoliosis, I... |
ORPHA:2510 |
| X-Linked Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Malabsorption, Skin ulcer, Glossoptosis, Arthritis, Cellulitis |
ORPHA:47 |
| Leopard Syndrome 1 |
|
Mandibular prognathia, Scapular winging, Kyphoscoliosis, Missing ribs, Pectus excavatum, Short ne... |
OMIM:151100 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia |
ORPHA:159 |
| Glycogen Storage Disease Xii |
|
Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting |
OMIM:611881 |
| Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Finger syndactyly, Pectus excavatum, Short toe, Brachycephaly, Orofacial cleft, Thin... |
ORPHA:1519 |
| Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contracture of the p... |
OMIM:300166 |
| Classic Homocystinuria |
|
Dental crowding, Arachnodactyly, Recurrent fractures, Joint stiffness, Pectus excavatum, Kyphosis... |
ORPHA:394 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Skeletal muscle atrophy, Kyphosis, Ankle clonus, Arm dystonia, Scoliosis, Lower limb muscle weakness |
ORPHA:88644 |
| Primary Pulmonary Hypoplasia |
|
Hypoxemia, Intrauterine growth retardation, Cyanosis |
ORPHA:2257 |
| Cockayne Syndrome |
|
Skeletal muscle atrophy, Congenital contracture, Intention tremor, Abnormal dental morphology, Ag... |
ORPHA:191 |
| Loeys-Dietz Syndrome 1 |
|
Joint laxity, Arachnodactyly, Eosinophilic infiltration of the esophagus, Micrognathia, Craniosyn... |
OMIM:609192 |
| Spinocerebellar Ataxia 36 |
|
Skeletal muscle atrophy, Tongue atrophy, Tongue fasciculations |
OMIM:614153 |
| Degcags Syndrome |
|
Osteopenia, Polyhydramnios, Micrognathia, High palate, Pallor, Diaphragmatic eventration, Syndact... |
OMIM:619488 |
| Hydrolethalus Syndrome 1 |
|
Omphalocele, Median cleft lip, Polyhydramnios, Micrognathia, Preaxial hand polydactyly, Postaxial... |
OMIM:236680 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Skeletal muscle atrophy, Micrognathia, Reduced bone mineral density, Fing... |
ORPHA:79474 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Myopathy, EMG: myopathic abnormalities |
ORPHA:99901 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Myopathy, Rhabdomyolysis |
OMIM:609015 |
| Icf Syndrome |
|
Protruding tongue, Malabsorption, Micrognathia, Macroglossia, Umbilical hernia |
ORPHA:2268 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Myopathy, EMG: myopathic abnormalities, Shoulder girdle muscle weakness, Increased intramyocellul... |
ORPHA:98907 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Thin upper lip vermilion, Villous atrophy, Death in infancy, Nonimmune hydrops fetali... |
OMIM:212065 |
| Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis |
ORPHA:2221 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Joint laxity, Joint dislocation, Joint hypermobility, Osteoarthritis, Hyperextensible skin, Soft ... |
OMIM:130020 |
| Congenital Sialidosis Type 2 |
|
Inguinal hernia, Edema, Protruding tongue, Optic atrophy, Gingival overgrowth, Polydactyly, Umbil... |
ORPHA:93400 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Joint dislocation, Calcaneovalgus deformity, Pectus carinatum, Prominent fin... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Joint dislocation, Calcaneovalgus deformity, Pectus carinatum, Prominent fin... |
ORPHA:363958 |
| Angelman Syndrome |
|
Mandibular prognathia, Optic disc pallor, Flat occiput, Protruding tongue, Tremor, Optic atrophy,... |
ORPHA:72 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Cutis marmorata, Transient ischemic attack, Myocardial infar... |
ORPHA:183 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Camptodactyly of finger, Polyhydramnios, Micrognathia, Submucous cleft hard palate, Neoplasm of t... |
ORPHA:3047 |
| Mcleod Syndrome |
|
Myopathy, Rhabdomyolysis |
OMIM:300842 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Calcaneovalgus de... |
ORPHA:261537 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Tongue atrophy, Tongue fasciculations |
OMIM:613435 |
| Double Outlet Right Ventricle |
|
Tachycardia, Cyanosis, Heart murmur, Pulmonic stenosis |
ORPHA:3426 |
| Xp21 Deletion Syndrome |
|
Calf muscle hypertrophy, Myopathy, Decreased muscle mass |
ORPHA:261476 |
| Hypoglossia With Situs Inversus |
|
Micrognathia, High palate, Hypodontia, Narrow mouth, Microglossia |
OMIM:612776 |
| Cystinosis |
|
Myopathy |
ORPHA:213 |
| Mgat2-Cdg |
|
Osteopenia, Dental crowding, Pectus excavatum, Kyphosis, Hydrops fetalis, Scoliosis, Dolichocepha... |
ORPHA:79329 |
| Polymyositis |
|
Arthritis, Chondrocalcinosis, Abnormal muscle fiber morphology |
ORPHA:732 |
| Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Calcaneovalgus de... |
ORPHA:2152 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology, Edema |
ORPHA:97330 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy |
OMIM:619743 |
| Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:1302 |
| Keutel Syndrome |
|
Optic atrophy, Recurrent sinusitis, Calcification of cartilage, Soft, doughy skin, Midface retrus... |
ORPHA:85202 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Optic atrophy, Abnormal autonomic nervous system physiology, Scoliosis |
OMIM:610743 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Arachnodactyly, Aganglionic megacolon, Narrow mouth |
ORPHA:261222 |
| Triosephosphate Isomerase Deficiency |
|
Optic disc pallor, Skeletal muscle atrophy, Death in infancy, Tremor, Kyphosis, Death in adolesce... |
OMIM:615512 |
| Loeys-Dietz Syndrome 3 |
|
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal sternum morphology, High palate, ... |
OMIM:613795 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... |
OMIM:600376 |
| Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Cutis laxa |
OMIM:610842 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Sacral dimple, Inguinal hernia, Micrognathia, Carious teet... |
OMIM:223370 |
| Charge Syndrome |
|
Polyhydramnios, Micrognathia, Hemivertebrae, Hand monodactyly, Hypoplasia of the ulna, Facial pal... |
OMIM:214800 |
| Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria, Joint stiffness |
OMIM:252920 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Optic nerve hypoplasia, Cleft soft palate, Intestinal malrotation, Flexion contracture, Optic atr... |
OMIM:619321 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac... |
OMIM:610655 |
| 15Q14 Microdeletion Syndrome |
|
Inguinal hernia, Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, Biparietal... |
ORPHA:261190 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Papilledema, Pectus excavatum, Esophageal varix, Brachycephaly, Skin ulcer, Hypere... |
ORPHA:2072 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Distal lower limb amyotrophy, Scarring, Craniosynostosis, Oral mucosal blisters, Erythema, Atroph... |
ORPHA:79396 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, ... |
ORPHA:89842 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Heart murmur |
ORPHA:1867 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Myopathy |
OMIM:617713 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Inguinal hernia, Edema, Micrognathia, Cleft palate, Increased number of skin folds, Long philtrum... |
ORPHA:2505 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Thin upper lip vermilion, Kyphosis, Flexion contracture, Xerostomia, Small hand, Oste... |
ORPHA:398069 |
| Idiopathic Camptocormia |
|
Myositis, Abnormal intervertebral disk morphology, Amyotrophic lateral sclerosis, Fatty replaceme... |
ORPHA:1320 |
| Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Abnormal vertebral morphology, Ulnar deviation of the hand, Progressive forear... |
OMIM:600383 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers, Limb muscle weakness, Facial ... |
ORPHA:254892 |
| Pseudoxanthoma Elasticum |
|
Abnormal thorax morphology, Lack of skin elasticity, Excessive wrinkled skin, Multiple lipomas, H... |
ORPHA:758 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Sacral dimple, Flat occiput, Preaxial hand polydactyly, ... |
ORPHA:2211 |
| Pericardial And Diaphragmatic Defect |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Pectus excavatum, Abnormal sternum morph... |
ORPHA:2847 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Proximal placement of thumb, Polyhydramnios, Absent radius, Esophag... |
OMIM:314390 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Redundant neck skin, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morpho... |
ORPHA:2519 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, EMG: myopathic abnormalities |
ORPHA:684 |
| Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Joint laxity, Aganglionic megacolon, Kyphoscoliosis, Hyperlo... |
ORPHA:653 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Intrauterine growth retardation, Redundant neck skin, Nonimmune hydrops fetalis |
OMIM:619003 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Myopathy |
OMIM:614922 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive... |
OMIM:187300 |
| Atelis Syndrome 2 |
|
Frontal bossing, Sacral dimple, Micrognathia, Diastema, Kyphosis, Thick lower lip vermilion, Down... |
OMIM:620185 |
| Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Midface retrusion, Micrognathia, Brachyceph... |
OMIM:607932 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Conical tooth, M... |
ORPHA:1071 |
| Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Cyanosis |
ORPHA:91359 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Calcaneovalgus de... |
ORPHA:261552 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ... |
OMIM:192445 |
| Joubert Syndrome 1 |
|
Optic disc pallor, Protruding tongue, Postaxial hand polydactyly, Optic disc coloboma, Postaxial ... |
OMIM:213300 |
| Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Broad hallux, Deviation of the hallux, Accessory oral frenulum, Hamartoma of t... |
ORPHA:434179 |
| Frontofacionasal Dysplasia |
|
Non-midline cleft lip, Brachycephaly, Cleft palate, Midface retrusion |
ORPHA:1791 |
| Serkal Syndrome |
|
Malrotation of small bowel, Orofacial cleft, Congenital diaphragmatic hernia, Oligohydramnios |
ORPHA:139466 |
| Branchiogenic-Deafness Syndrome |
|
Trismus, Submucous cleft hard palate, Short distal phalanx of finger |
OMIM:609166 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology |
DECIPHER:29 |
| Pseudoxanthoma Elasticum |
|
White oral mucosal macule, Optic disc drusen, Cutis laxa |
OMIM:264800 |
| Barber-Say Syndrome |
|
Delayed eruption of teeth, Hyperextensible skin, Wide mouth, Redundant skin |
ORPHA:1231 |
| Pseudoachondroplasia |
|
Skeletal myopathy |
ORPHA:750 |
| Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Abnormal intervertebral disk morphology, Osteoarthritis, Limitation of joint m... |
ORPHA:1416 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Thin upper lip vermilion, Small hypothenar eminence, Lumbar hyperlordosis, Flat occip... |
ORPHA:2232 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Myopathy |
ORPHA:169090 |
| Danon Disease |
|
Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,... |
OMIM:300257 |
| Lelis Syndrome |
|
Mandibular prognathia, Carious teeth, Furrowed tongue, Hypodontia, Midface retrusion |
ORPHA:140936 |
| Buratti-Harel Syndrome |
|
Broad hallux, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Broad thumb... |
OMIM:619314 |
| Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum |
OMIM:618732 |
| Lig4 Syndrome |
|
Clinodactyly of the 5th finger, Chronic sinusitis, Brachycephaly |
OMIM:606593 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Systolic heart murmur, Generalized edema |
OMIM:617478 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook, Early ossification of capital fe... |
OMIM:208500 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Polyhydramnios, Narrow mouth, Mandibular aplasia, Microglossia, Abnormal cranial nerve morphology |
ORPHA:990 |
| Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Scarring, Abnormality of the gingiva, Thick lower lip vermilion,... |
ORPHA:530 |
| Aica-Ribosiduria |
|
Wide mouth, Thin upper lip vermilion, Brachycephaly |
ORPHA:250977 |
| Frontonasal Dysplasia 3 |
|
Brachycephaly, Cleft palate |
OMIM:613456 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Choreoathetosis, Cyanosis, Opisthotonus |
OMIM:619580 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
| Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syndactyly, Cleft ... |
ORPHA:69085 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Scarring, Kyphoscoliosis, Conical tooth, Erythema, Optic atrophy, Hemi... |
OMIM:308300 |
| Okamoto Syndrome |
|
Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Redunda... |
ORPHA:2729 |
| Stormorken Syndrome |
|
Myopathy |
OMIM:185070 |
| Hereditary Folate Malabsorption |
|
Cheilitis, Skeletal muscle atrophy, Glossitis, Pallor |
ORPHA:90045 |
| Juvenile Sialidosis Type 2 |
|
Inguinal hernia, Protruding tongue, Optic atrophy, Gingival overgrowth, Abnormal form of the vert... |
ORPHA:93399 |
| Isolated Anencephaly |
|
Omphalocele, Cleft lip, Congenital diaphragmatic hernia, Intrauterine growth retardation |
ORPHA:563609 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Skeletal muscle atrophy, Kyphosis, Osteoporosis, Striae distensae |
OMIM:219080 |
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Wide mouth, Brachycephaly |
OMIM:616083 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Abnormal thorax morphology, Gingival ... |
ORPHA:508542 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula, Absent thumb |
OMIM:619239 |
| Pagod Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Death in infancy, Congenital diaphragmatic hernia, Spi... |
ORPHA:991 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
High, narrow palate, Kyphosis, Abnormal sternum morphology, High palate, Scoliosis, Peau d'orange |
OMIM:177850 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Micrognathia, Cleft u... |
OMIM:153400 |
| Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Hyperintensity of MRI T2 sign... |
ORPHA:79139 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Mandibular prognathia, Frontal bossing, Joint laxity, Arachnodactyly, Hyperlordosis, Kyphosis, La... |
OMIM:617011 |
| Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae |
OMIM:602473 |
| Scleroderma, Familial Progressive |
|
Calcinosis, Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Knee flexion contracture, Calf muscle hypertrophy, Muscle fi... |
OMIM:618733 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, High, narrow palate, Abnormal curvature of the vertebral column, Short philtrum, High ... |
OMIM:619475 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
| Omodysplasia 1 |
|
Micrognathia, Short neck, Limited elbow flexion, Short tibia, Increased fibular diameter, Rhizome... |
OMIM:258315 |
| Alkaptonuria |
|
Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral d... |
ORPHA:56 |
| Juvenile Polyposis Of Infancy |
|
Frontal bossing, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Hamartomato... |
ORPHA:79076 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Submucous cleft hard palate, Flexion contracture, Generalized limb muscle atrophy, Ankle clonus, ... |
OMIM:618891 |
| Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Tethered cord, Submucous cleft hard palate, Spinal dysraphism, Bifid uvula... |
OMIM:617660 |
| Poems Syndrome |
|
Edema, Pericardial effusion, Ascites, Pulmonary arterial hypertension, Pleural effusion, Acrocyan... |
ORPHA:2905 |
| Tetraamelia Syndrome 2 |
|
Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Amelia, Ankylog... |
OMIM:618021 |
| Hereditary Xanthinuria |
|
Myopathy |
ORPHA:3467 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Cleft soft palate, Short neck, Micrognathia, Submucous cleft soft palate, Intrauterine growth ret... |
ORPHA:2282 |
| Srd5A3-Cdg |
|
Kyphosis, Oligodontia, Optic atrophy, Abnormal sacrum morphology |
ORPHA:324737 |
| Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Cyanosis, Tricuspid stenosis, Edema, Valvular pulmonary stenosis, Hydrop... |
OMIM:212093 |
| Waardenburg Syndrome, Type 1 |
|
Mandibular prognathia, Spina bifida, Orofacial cleft, Supernumerary ribs, Supernumerary vertebrae... |
OMIM:193500 |
| Alg1-Cdg |
|
Kyphosis, Limitation of joint mobility, Protein-losing enteropathy, Scoliosis |
ORPHA:79327 |
| Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Micrognathia, Submucous cleft ha... |
OMIM:301043 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Clubbing of fingers, Protein-losing... |
OMIM:175500 |
| Diets-Jongmans Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Congenital diaphragmatic hernia, Polyhydramnios, Wide ... |
OMIM:618846 |
| Antisynthetase Syndrome |
|
Joint dislocation, Myositis, Edema, Xerostomia, Lack of skin elasticity |
ORPHA:81 |
| Vater/Vacterl Association |
|
Syndactyly, Tethered cord, Spina bifida, Absent radius, Esophageal atresia, Short thumb, Hypoplas... |
OMIM:192350 |
| Hyperoxaluria, Primary, Type I |
|
Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Dehydration, Int... |
OMIM:259900 |
| Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Enlarged interphalangeal joints, Proximal placement of thumb, Abnormality of the epiphysis of the... |
ORPHA:2988 |
| Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Proximal placement of thumb, Micrognathia, Micromelia, 2-3 toe cutaneous syndact... |
OMIM:270400 |
| Angelman Syndrome Due To A Point Mutation |
|
Mandibular prognathia, Flat occiput, Protruding tongue, Wide mouth, Widely spaced teeth |
ORPHA:411511 |
| Alexander Disease |
|
Osteopenia, Frontal bossing, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Tremor, High pala... |
ORPHA:58 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Protruding tongue, Gingival overgrowth, Scoliosis, Long philtrum, Trigonocephaly |
OMIM:619179 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Skeletal muscle hypertrophy, Myopathy, Proximal upper limb muscle hypertrophy, Muscle hypertrophy... |
ORPHA:280365 |
| Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Congenital diaphragmatic hernia, Esophageal atresia, Cleft palate, Anal atresia |
ORPHA:95706 |
| Larsen-Like Syndrome, Lethal Type |
|
Joint dislocation, Tracheomalacia, Multiple joint dislocation, Abnormal cartilage matrix, Neonata... |
OMIM:245650 |
| Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pericardial effusion, Kyphosis, Osteoarthritis, Delay... |
ORPHA:77259 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
| Oligomeganephronia |
|
Congenital diaphragmatic hernia, Optic disc coloboma, Dehydration, Micrognathia |
ORPHA:2260 |
| Hypoglossia-Hypodactylia |
|
Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia |
OMIM:103300 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Thick lower lip vermilion, Submucous cleft hard palate, Wide mouth, Unilat... |
OMIM:619103 |
| Localized Scleroderma |
|
Skeletal muscle atrophy, Flexion contracture, Myopathy |
ORPHA:90289 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Inguinal hernia, Recurrent joint dislocation, Recurrent fractures, Reduced bone mineral density, ... |
OMIM:619115 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis |
OMIM:261680 |
| Sanjad-Sakati Syndrome |
|
Myopathy |
ORPHA:2323 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis |
OMIM:610910 |
| Sotos Syndrome |
|
Accelerated skeletal maturation, Tremor, No permanent dentition, Flexion contracture, Pedal edema... |
ORPHA:821 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Atrophy/Degeneration involving the spinal cord, Increased variability in muscle fiber diameter, R... |
ORPHA:70595 |
| Fraser Syndrome |
|
Omphalocele, Finger syndactyly, Anal stenosis, Toe syndactyly, Dental crowding, Death in infancy,... |
ORPHA:2052 |
| Cardiac Diverticulum |
|
Omphalocele, Diastasis recti, Aplasia/Hypoplasia of the sternum, Left ventricular hypertrophy, Um... |
ORPHA:1686 |
| X-Linked Ehlers-Danlos Syndrome |
|
Inguinal hernia, Joint hyperflexibility, Hyperextensible skin, Hernia, Umbilical hernia |
ORPHA:75497 |
| Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Neonatal death, Diaphragmatic eve... |
OMIM:601186 |
| Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Edema, Periorbital edema, Myocar... |
ORPHA:221 |
| B4Galt1-Cdg |
|
Thin upper lip vermilion, Redundant neck skin, Edema, Long philtrum |
ORPHA:79332 |
| Ramos-Arroyo Syndrome |
|
Frontal bossing, Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Abnormal autono... |
ORPHA:1051 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Clinodactyly of the 5th finger, Glossoptosis, Biparietal narrowing |
ORPHA:2031 |
| Choreoacanthocytosis |
|
Resting tremor, Temporomandibular joint crepitus, Peroneal muscle atrophy, Protruding tongue, Hea... |
ORPHA:2388 |
| Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Osteomalacia, Wrist swelling, Kyphosis, Hip dislocation, Rickets, Cornea... |
OMIM:309000 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Left ventricular hypertrophy, Skeletal myopathy, Rhabdomyolysis, Lower limb muscle weakness |
ORPHA:746 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Ragged-red muscle fibers, Cleft palate, Dystonia |
OMIM:614924 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali... |
ORPHA:565612 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Pulmonary arterial hypertension, Cyanosis |
OMIM:265120 |
| Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Distal amyotrophy, Increased variability in muscle fiber diame... |
OMIM:164310 |
| Cockayne Syndrome Type 3 |
|
Optic disc pallor, Skeletal muscle atrophy, Neurogenic bladder, Carious teeth, Kyphosis, Flexion ... |
ORPHA:90324 |
| Congenital Myopathy 17 |
|
Diaphragmatic eventration, Distal arthrogryposis, Myopathy |
OMIM:618975 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, EMG: myopathic abnormalities, Elbow flexion contracture, Knee flexion contracture |
ORPHA:371364 |
| Usher Syndrome |
|
Myopathy |
ORPHA:886 |
| Tetraamelia Syndrome 1 |
|
Congenital diaphragmatic hernia, Cleft upper lip, Micrognathia, Cleft palate, Hypoplastic pelvis,... |
OMIM:273395 |
| Immunodeficiency 47 |
|
Death in infancy, Joint hypermobility, Cutis laxa |
OMIM:300972 |
| Meckel Syndrome |
|
Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Micrognathia, Preaxial hand polydacty... |
ORPHA:564 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Myopathy, Rhabdomyolysis |
ORPHA:157 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Joint laxity, Dermal translucency, Drumstick terminal phalanges, Hyperextensible skin, Esophagiti... |
ORPHA:541423 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis, Left-to-right shunt, Congestive heart failure, Left ventricular outflow tract obstructi... |
ORPHA:99050 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Joint hypermobility, Diastema, Agenesis of molar, Supernumerary tooth, Kyphosis, Oste... |
OMIM:619718 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Myopathy |
OMIM:115197 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Frontal bossing, Inguinal hernia, Abnormal pelvis bone morphology, Aganglionic megac... |
ORPHA:2273 |
| Acquired Generalized Lipodystrophy |
|
Myopathy, Calf muscle pseudohypertrophy |
ORPHA:79086 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Mandibular prognathia, Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:98795 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Omphalocele, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Polyhydramnios, ... |
OMIM:306955 |
| Malignant Hyperthermia Of Anesthesia |
|
Necrotizing myopathy, Exercise-induced rhabdomyolysis, Abnormality of masseter muscle, Acute rhab... |
ORPHA:423 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Elbow flexion contracture, Corneal scarring, Furrowed tongue, Knee flexion contracture, Microdont... |
OMIM:148210 |
| Leigh Syndrome |
|
Myopathy, Multiple joint contractures, Skeletal muscle atrophy |
ORPHA:506 |
| Frontofacionasal Dysplasia |
|
Frontal cutaneous lipoma, Cleft upper lip, Brachycephaly, Orofacial cleft, Midface retrusion, Mal... |
OMIM:229400 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Tremor, Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle |
OMIM:607426 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Inguinal hernia, Redundant skin, Cutis laxa, Hyperextensible skin, Long philtrum, Uterine prolapse |
OMIM:123700 |
| Humeroradial Synostosis |
|
Humeroradial synostosis, Brachycephaly |
OMIM:236400 |
| Melas |
|
Myopathy, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue |
ORPHA:550 |
| Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Right ventricular failure, Increased pulmonary vascular resistance, Hypoxemia, Peripher... |
ORPHA:60025 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widen... |
OMIM:259770 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Optic disc pallor, Skeletal muscle atrophy, Death in infancy, Optic neuropathy, Ragged-red muscle... |
OMIM:252010 |
| Waardenburg Syndrome Type 3 |
|
Acrocyanosis |
ORPHA:896 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Myopathy |
ORPHA:85450 |
| Postencephalitic Parkinsonism |
|
Resting tremor, Camptocormia, Oculogyric crisis, Kyphosis, Open mouth, Tremor by anatomical site |
ORPHA:97349 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t... |
OMIM:149730 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
| Bazex-Dupre-Christol Syndrome |
|
Joint hypermobility, Furrowed tongue |
OMIM:301845 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital diaphragmatic hernia, Cleft lip, Cleft palate, Intrauterine growth retardation, Oligoh... |
OMIM:611812 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content |
ORPHA:228302 |
| Pelizaeus-Merzbacher Disease |
|
Joint stiffness, Kyphosis, Optic atrophy, Choreoathetosis, Scoliosis, Dystonia |
ORPHA:702 |
| Dextrocardia |
|
Congenital hip dislocation, Meckel diverticulum, Abnormal rib morphology, Intestinal malrotation |
ORPHA:1666 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Sacral dimple, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Micrognathia, ... |
ORPHA:2556 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Cyanosis |
ORPHA:747 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Joint laxity, Inguinal hernia, Polyhydramnios, Short neck, Abnormal sternum morphology, Hyperexte... |
OMIM:607721 |
| Choanal Atresia |
|
Cyanosis |
ORPHA:137914 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Pulmonary arterial hypertension, Cyanosis |
OMIM:610913 |
| Psoriasis 14, Pustular |
|
Erythema, Oligoarthritis, Furrowed tongue, Polyarticular arthritis, Geographic tongue |
OMIM:614204 |
| Coccidioidomycosis |
|
Osteomyelitis, Broad skull, Osteolysis, Abnormal long bone morphology, Atypical scarring of skin,... |
ORPHA:228123 |
| Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia, Scoliosis, Intention tremor |
OMIM:619352 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Death in early adulthood, Intestinal pseudo-obstruction, Malabsorption, Inte... |
OMIM:603041 |
| Giant Cell Arteritis |
|
Joint stiffness, Optic atrophy, Skin ulcer, Arthritis, Glossitis |
ORPHA:397 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Increased endomysial connective tissue, Flexion contracture, Optic atrophy, Muscular dystrophy |
OMIM:613154 |
| Deafness-Craniofacial Syndrome |
|
Frontal bossing, Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tong... |
ORPHA:3241 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Inguinal hernia, Micrognathia, Pectus excavatum, Supernumerary tooth, Osteoporosis, Pectus carina... |
OMIM:619525 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
EMG: myopathic abnormalities |
ORPHA:2549 |
| Double Outlet Left Ventricle |
|
Cyanosis, Systolic heart murmur, Abnormal right ventricular function |
ORPHA:3427 |
| Adult-Onset Still Disease |
|
Cartilage destruction, Joint swelling, Erythema, Arthritis |
ORPHA:829 |
| Congenital Tracheomalacia |
|
Esophageal atresia, Tracheoesophageal fistula, Cutis laxa, Tracheomalacia, Tracheobronchomalacia |
ORPHA:95430 |
| Odontoonychodermal Dysplasia |
|
Erythema, Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spac... |
OMIM:257980 |
| Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Tremor, Rhabdomyolysis, Increased intramyocellular lipid drople... |
ORPHA:79102 |
| Stromme Syndrome |
|
Myopathy |
OMIM:243605 |
| Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
| Chand Syndrome |
|
Short fifth metatarsal, Dry skin, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenul... |
ORPHA:1401 |
| Hereditary Mucoepithelial Dysplasia |
|
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
| Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Pallor, Narrow mouth, Gl... |
ORPHA:54028 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Generalized dystonia, Kyphosis, Optic atrophy, Ankle clonus, Lower limb hypertonia, Foot dorsifle... |
ORPHA:171629 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Thoracolumbar scoliosis, Celiac disease, Esophageal va... |
OMIM:301068 |
| 17Q11 Microdeletion Syndrome |
|
Osteopenia, Rhabdomyosarcoma, Bowing of the legs, Gastrointestinal stroma tumor, Kyphosis, Osteop... |
ORPHA:97685 |
| Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Lipodystrophy, Abnormal cartilage morphology, Osteolysis, Multiple lip... |
ORPHA:2396 |
| Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
| Rett Syndrome, Congenital Variant |
|
Thin upper lip vermilion, Kyphosis, Athetosis, Talipes equinovarus, Scoliosis, Dystonia, Midface ... |
OMIM:613454 |
| 9q subtelomeric deletion syndrome |
|
Midface retrusion, Protruding tongue |
DECIPHER:52 |
| Papillorenal Syndrome |
|
Joint laxity, Edema, Optic disc coloboma, Hyperextensible skin, Scoliosis, Soft skin |
OMIM:120330 |
| Neurooculocardiogenitourinary Syndrome |
|
Downturned corners of mouth, Redundant neck skin, Smooth philtrum |
OMIM:618652 |
| Acrodermatitis Enteropathica |
|
Malabsorption, Erythema, Abnormality of the tongue, Skin ulcer, Furrowed tongue, Cheilitis, Dry s... |
ORPHA:37 |
| Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers |
OMIM:530000 |
| Velocardiofacial Syndrome |
|
Inguinal hernia, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence... |
OMIM:192430 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Scoliosis, Protruding tongue |
OMIM:614325 |
| Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Pectus excavatum, Pyloric stenosis, Generalized... |
OMIM:235730 |
| Alstrom Syndrome |
|
Abnormality of the dentition, Accelerated skeletal maturation, Kyphosis, Gingivitis, Hyperostosis... |
OMIM:203800 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Orthostatic hypotension, Acrocyanosis, Tachycardia |
OMIM:223900 |
| Microsporidiosis |
|
Myositis, Osteomyelitis, Sinusitis, Dehydration, Glossitis |
ORPHA:2552 |
| Oxoglutaric Aciduria |
|
Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy |
ORPHA:31 |
| Treacher Collins Syndrome 1 |
|
Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Nar... |
OMIM:154500 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Cervical ribs, Hernia, Umbilical hernia,... |
ORPHA:2255 |
| Developmental And Epileptic Encephalopathy 31B |
|
Opisthotonus, Optic atrophy, Gingival overgrowth, Protruding tongue |
OMIM:620352 |
| Glycerol Kinase Deficiency |
|
Myopathy, Muscular dystrophy |
OMIM:307030 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Atrophy of the spinal cord, Optic atrophy, Hydrops fetalis, Dehydration, Stomatitis, Intrauterine... |
ORPHA:79282 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Joint laxity, Striae distensae, Atypical scarring of skin, Hyperextensible skin, Petechiae |
OMIM:225310 |
| Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Frontal bossing, Abnormal rib morphology, Hemivertebrae, Butterfly verteb... |
OMIM:118450 |
| X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Protruding tongue, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, ... |
ORPHA:53351 |
| Primary Hyperoxaluria |
|
Cutis marmorata, Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermitten... |
ORPHA:416 |
| Myasthenia Gravis |
|
Raynaud phenomenon, Acrocyanosis |
ORPHA:589 |
| Generalized Pustular Psoriasis |
|
Arthritis, Geographic tongue, Cheilitis, Pedal edema |
ORPHA:247353 |
| Townes-Brocks Syndrome |
|
Broad hallux phalanx, Rectoperineal fistula, Toe syndactyly, Preaxial hand polydactyly, Partial d... |
ORPHA:857 |
| Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Cyanosis, Abnormal heart valve physiology, Pulmonic stenosis, ... |
ORPHA:3384 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Inguinal hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia of the left hem... |
OMIM:600001 |
| Vici Syndrome |
|
Left ventricular hypertrophy, Myopathy |
OMIM:242840 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Tracheoesophageal fistula, High palate, Talipes equinovarus, Stomatitis... |
OMIM:277380 |
| Abetalipoproteinemia |
|
Myopathy, Distal lower limb muscle weakness |
ORPHA:14 |
| Matthew-Wood Syndrome |
|
Intrauterine growth retardation, Congenital diaphragmatic hernia, Duodenal stenosis |
ORPHA:2470 |
| Familial Dysautonomia |
|
Hypertension, Orthostatic hypotension, Acrocyanosis, Tachycardia |
ORPHA:1764 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Redundant neck skin, Polyhydramnios |
OMIM:617967 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Hypoxemia, Cyanosis |
OMIM:610921 |
| Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Erosion of oral mucosa, Foot joint contracture, Esophageal ulceration, Anal fissure, ... |
ORPHA:79408 |
| Kosaki Overgrowth Syndrome |
|
Thin upper lip vermilion, Hyperextensible skin, Thoracolumbar scoliosis, Scoliosis |
OMIM:616592 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Death in infancy, Femur fracture, Optic atrophy, Osteopetrosis, Death in ... |
OMIM:612301 |
| Wolfram Syndrome |
|
Myopathy |
ORPHA:3463 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Joint contracture, Congenital diaphragmatic hernia |
OMIM:615919 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Joint dislocation, Recurrent fractures, Hyperextensible skin, Joint hypermobility, Dermal translu... |
OMIM:619120 |
| Hartnup Disease |
|
Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
| Holoprosencephaly 2 |
|
Aplasia of the premaxilla, Proboscis, Submucous cleft hard palate, Absent nasal septal cartilage,... |
OMIM:157170 |
| Esophageal Atresia |
|
Cyanosis, Polyhydramnios |
ORPHA:1199 |
| Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Kyphosis, Bone pain, Osteoporosis, Vertebral compression fracture |
ORPHA:85193 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Myopathy |
OMIM:612541 |
| Congenital Tracheal Stenosis |
|
Cyanosis, Fetal ascites, Polyhydramnios, Oligohydramnios |
ORPHA:141127 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis, Widely spaced teeth, Accelerated skeletal maturation |
OMIM:300942 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Scarring, Abnormality of the dentition, Carious teeth, A... |
ORPHA:158668 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Intrauterine growth retardation, Glossitis, Cleft palate |
ORPHA:79284 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Oligoarthritis, Enthesitis, Inflammation of the large intestine, Sacroiliac ... |
OMIM:106300 |
| Unilateral Polymicrogyria |
|
Cyanosis, Epistaxis |
ORPHA:268943 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Short lingual frenulum, Brachycephaly, Anteriorly placed anus, Widely-spaced maxillary central in... |
OMIM:608980 |
| Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Wide anterior fontanel, Neonatal death, Congenital diaphragm... |
OMIM:194080 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Optic disc pallor, Kyphosis, Gingival fibromatosis, Narrow palate, Sco... |
OMIM:266270 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
EMG: myopathic abnormalities, Acute rhabdomyolysis |
ORPHA:480864 |
| Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Tented upper lip vermilion, Intestinal pseudo-obstruction, Polyhydramnio... |
ORPHA:273 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Inguinal hernia, Pectus excavatum, Cigarette-paper scars, Cystocele, Foot acroosteolysis, Osteoly... |
OMIM:130050 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
| Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Cleft upper lip, Cleft palate |
OMIM:313850 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Kyphosis, Osteoporosis, Striae distensae |
OMIM:610475 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Ragged-red muscle fibers, Optic atrophy, Dystonia |
ORPHA:255210 |
| Postinfectious Vasculitis |
|
Cerebral vasculitis, Palpable purpura, Cutis marmorata, Raynaud phenomenon, Cardiomyopathy, Hyper... |
ORPHA:48435 |
| Aicardi-Goutières Syndrome |
|
Cutis marmorata, Tremor, Raynaud phenomenon, Prolonged neonatal jaundice, Dystonia, Hypertrophic ... |
ORPHA:51 |
| Shprintzen Omphalocele Syndrome |
|
Omphalocele, Lumbar hyperlordosis, Kyphosis, Thin vermilion border, Narrow chest, Scoliosis, Anal... |
OMIM:182210 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Redundant neck skin, Tethered cord, Optic atrophy, Umbilical hernia, Clinodactyly, Intrauterine g... |
OMIM:618164 |
| Caribbean Parkinsonism |
|
EMG: myopathic abnormalities |
ORPHA:97355 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Imerslund-Gräsbeck Syndrome |
|
Glossitis, Pallor, Angular cheilitis |
ORPHA:35858 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Congenital diaphragmatic hernia, Cleft palate, Anteriorly placed anus, Colonic atresia, Anal atresia |
OMIM:309801 |
| Reactive Arthritis |
|
Osteomyelitis, Joint stiffness, Cartilage destruction, Enthesitis, Joint swelling, Inflammation o... |
ORPHA:29207 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Inguinal hernia, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teet... |
ORPHA:2250 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Thin upper lip vermilion, Deep philtrum, Congenital diaphragmatic hernia, Oligohydramnios |
OMIM:617641 |
| Microform Holoprosencephaly |
|
EMG: myopathic abnormalities |
ORPHA:280200 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis |
OMIM:617239 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Myopathy, Decreased muscle mass |
OMIM:234200 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Rectal prolapse, Megarectum, Large ... |
ORPHA:508 |
| Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Myopathy |
OMIM:219800 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Kyphosis, Osteoporosis, Striae distensae |
OMIM:610489 |
| Common Variable Immunodeficiency |
|
Gastrointestinal stroma tumor, Brachycephaly, Anal atresia, Purpura |
ORPHA:1572 |
| Kawasaki Disease |
|
Edema, Cheilitis, Arthritis, Palmoplantar erythema, Glossitis |
ORPHA:2331 |
| Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Flexion contracture, Macroglos... |
ORPHA:365 |
| Mucoepithelial Dysplasia, Hereditary |
|
Erythematous oral mucosa, Furrowed tongue |
OMIM:158310 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cyanosis |
OMIM:618426 |
| Glucagonoma |
|
Intestinal obstruction, Necrolytic migratory erythema, Steatorrhea, Stomatitis, Ascites, Glossiti... |
ORPHA:97280 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Rhabdomyolysis, Ragged-red muscle fibers, Neonatal death |
OMIM:124000 |
| Cardiac-Urogenital Syndrome |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Pericardial effusion, 2-3 toe syndactyly... |
OMIM:618280 |
| Plague |
|
Chapped lip, Edema, Abnormality of the elbow, Enterocolitis, Skin ulcer, Arthritis, Inflammation ... |
ORPHA:707 |
| Pitt-Hopkins Syndrome |
|
Acrocyanosis |
ORPHA:2896 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis |
ORPHA:293987 |
| Tracheobronchopathia Osteochondroplastica |
|
Esophagitis, Calcification of cartilage |
ORPHA:3348 |
| Meacham Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:3097 |
| Goodpasture Syndrome |
|
Cyanosis, Pulmonary hemorrhage |
OMIM:233450 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Tachycardia, Tricuspid regurgitation, Cyanosis, Right ventricular failure, Low-output congestive ... |
ORPHA:99125 |
| Carney Complex |
|
Dorsocervical fat pad, Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Abno... |
ORPHA:1359 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Achalasia, Ineffective esophageal peristalsis, Scoliosis |
OMIM:619482 |
| Pachyonychia Congenita 3 |
|
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue |
OMIM:615726 |
| Alström Syndrome |
|
Optic disc pallor, Thoracic scoliosis, Abnormality of dental color, Dorsocervical fat pad, Accele... |
ORPHA:64 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Rhabdomyolysis |
OMIM:188580 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia, Hypercapnia |
OMIM:601887 |
