Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract... |
ORPHA:93307 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... |
OMIM:602111 |
Schneckenbecken Dysplasia |
|
Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat acetabular ... |
OMIM:269250 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar... |
ORPHA:1452 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Neonatal respiratory dis... |
OMIM:602471 |
Platyspondylic Dysplasia, Torrance Type |
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Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abdominal distention, Short thorax, A... |
ORPHA:85166 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ... |
OMIM:228520 |
Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b... |
OMIM:224300 |
Atelosteogenesis, Type Iii |
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Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat... |
OMIM:108721 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
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Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Kniest Dysplasia |
|
Respiratory distress, Enlarged joints, Delayed epiphyseal ossification, Coxa vara, Tibial bowing,... |
OMIM:156550 |
Cardiomyopathy, Dilated, 1M |
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Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
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Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w... |
OMIM:608940 |
Léri-Weill Dyschondrosteosis |
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Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
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Respiratory distress, Micromelia, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia... |
OMIM:151210 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing,... |
OMIM:223800 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... |
OMIM:210720 |
Ulnar Hemimelia |
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Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Atelosteogenesis, Type I |
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Laryngeal stenosis, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest... |
OMIM:108720 |
Cardiomyopathy, Dilated, 1Dd |
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Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
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Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A... |
OMIM:602196 |
Isolated Congenital Hypoglossia/Aglossia |
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Respiratory distress, Micrognathia, Nasogastric tube feeding in infancy, Dyspnea, Temporomandibul... |
ORPHA:141152 |
Thanatophoric Dysplasia, Type Ii |
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Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
Kyphomelic Dysplasia |
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Micromelia, Micrognathia, Lateral clavicle hook, Tibial bowing, Femoral bowing, Pterygium, Short ... |
OMIM:211350 |
Achondroplasia |
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Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora... |
OMIM:100800 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
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Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p... |
OMIM:617866 |
Cardiomyopathy, Dilated, 1L |
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Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
Cardiomyopathy, Dilated, 1Hh |
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Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
Cardiomyopathy, Dilated, 1Ff |
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Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:613286 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... |
ORPHA:93314 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Achondrogenesis, Type Ia |
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Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... |
OMIM:200600 |
Mesomelic Limb Shortening And Bowing |
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Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... |
OMIM:249710 |
Van Den Ende-Gupta Syndrome |
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Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Lateral clavicle hook, High, narrow pala... |
OMIM:600920 |
Weismann-Netter Syndrome |
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Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, De... |
OMIM:112350 |
Weismann-Netter Syndrome |
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Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Thanatophoric Dysplasia, Type I |
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Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Thorac... |
OMIM:187600 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Hemivertebrae, Orofacial cleft, Pectus carinatum, Hig... |
ORPHA:958 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Wide anterio... |
OMIM:259420 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Smith-Mccort Dysplasia 1 |
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Barrel-shaped chest, Short metacarpal, Multicentric femoral head ossification, Iliac crest serrat... |
OMIM:607326 |
Pierre Robin Sequence With Facial And Digital Anomalies |
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Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate... |
OMIM:311895 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
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Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Elbow dislocation, Absent radius,... |
OMIM:171480 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of ... |
OMIM:119600 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abn... |
ORPHA:1427 |
Marshall Syndrome |
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Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bowing, Tibial bo... |
OMIM:264700 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
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Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, M... |
ORPHA:3035 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Hypoplast... |
OMIM:607778 |
Vitamin D-Dependent Rickets, Type 2A |
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Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bowing, Tibial bo... |
OMIM:277440 |
Cardiomyopathy, Dilated, 1Z |
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Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,... |
OMIM:619636 |
Shox-Related Short Stature |
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Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Hi... |
ORPHA:314795 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han... |
OMIM:164900 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Thin upper lip vermilion, Death in infancy, Micrognathia, Wide anterior f... |
OMIM:619135 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Micromelia, Fused teeth, High palate, Narrow chest, Thoracic dysplasia, M... |
OMIM:614091 |
Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
Robin Sequence-Oligodactyly Syndrome |
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Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft... |
ORPHA:3104 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Abnormal rib m... |
ORPHA:2021 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Post... |
OMIM:258850 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Beaded ribs, Multiple ... |
OMIM:166210 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Respiratory distress, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint... |
OMIM:613848 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Orofa... |
ORPHA:79107 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Campomelic Dysplasia |
|
Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Anterior tibial bowing, Cer... |
OMIM:114290 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Multiple prenatal fractures, Tibial bowing, Femoral bowing, Decreased skull ossificat... |
OMIM:610915 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... |
OMIM:600081 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, ... |
OMIM:620076 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con... |
OMIM:271640 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis... |
OMIM:207410 |
Cousin Syndrome |
|
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... |
OMIM:260660 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera... |
OMIM:307800 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... |
ORPHA:166016 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... |
OMIM:309350 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Catel-Manzke Syndrome |
|
Camptodactyly of finger, Metatarsus valgus, Micrognathia, Pectus excavatum, Joint stiffness, Radi... |
ORPHA:1388 |
Cardiac Lipidosis, Familial |
|
Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
Dystonia-Deafness Syndrome 1 |
|
Hypoplastic scapulae, Femoral retroversion, Cleft upper lip, Kyphoscoliosis, Cleft palate, Pseudo... |
OMIM:607371 |
Grant Syndrome |
|
Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus ... |
OMIM:311900 |
Metaphyseal Dysplasia, Spahr Type |
|
Progressive leg bowing, Metaphyseal dysplasia, Bowing of the legs, Metaphyseal sclerosis, Metaphy... |
OMIM:250400 |
Cardiomyopathy, Dilated, 2A |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:611880 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Thin bony cortex, Enlargement of the ankles, Wide cranial sutures, Ost... |
ORPHA:289157 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... |
ORPHA:93333 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Apnea, Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bow... |
OMIM:601559 |
Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... |
OMIM:604765 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog... |
ORPHA:2878 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Micrognathia, Nasogastric tube feeding in infan... |
ORPHA:93316 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Respiratory distress, Micr... |
ORPHA:166272 |
Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ... |
ORPHA:1512 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow... |
OMIM:184260 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Femoral bowing, Abnorm... |
ORPHA:2563 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, Neonatal deat... |
OMIM:269860 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Flexion contracture, Tibi... |
OMIM:143095 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Osteopenia, Respiratory distress, Hypoplasia of the maxilla, Short metatar... |
OMIM:166250 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... |
OMIM:241530 |
W Syndrome |
|
Hypoplasia of the ulna, Pes planus, Radial bowing, Broad uvula, Elbow dislocation, Metatarsus add... |
ORPHA:2804 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... |
ORPHA:2501 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... |
OMIM:206920 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Death in infancy, Micrognathia, Feeding difficulties, Epiphyseal stippling, High palate |
OMIM:614882 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Blount Disease |
|
Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the... |
ORPHA:2768 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem... |
OMIM:304120 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Hemivertebrae, Short palm, Thoracic he... |
OMIM:268310 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... |
OMIM:614672 |
Adenylosuccinate Lyase Deficiency |
|
Flat occiput, Anteverted nares, Microcephaly, Brachycephaly, Short nose |
ORPHA:46 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short l... |
ORPHA:1423 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... |
ORPHA:2779 |
Metaphyseal Anadysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ... |
ORPHA:1040 |
Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic ilia, Hypopla... |
OMIM:169550 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Arthrogryposis, Distal, Type 7 |
|
Micrognathia, Metatarsus adductus, Trismus, Deep philtrum, Hip dislocation, Feeding difficulties,... |
OMIM:158300 |
Bowen-Conradi Syndrome |
|
Death in infancy, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Feeding difficulties... |
ORPHA:1270 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should... |
OMIM:274000 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Pectus excavatum, Postaxi... |
ORPHA:2752 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ... |
ORPHA:2879 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Dental crowding, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feed... |
ORPHA:251028 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Rocker bottom foot, Recurrent fractures, Micrognathia, Nasogastric tube feeding in... |
ORPHA:453510 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Death in infancy, Lumbar hyperlordosis, Flat acetabu... |
OMIM:256050 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... |
ORPHA:1106 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Metaphyseal widening, Death in childhood, Progressive alveolar ridge hy... |
OMIM:252500 |
Intellectual Developmental Disorder, Autosomal Recessive 27 |
|
Failure to thrive, Depressed nasal bridge, Midface retrusion, Microcephaly |
OMIM:614340 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Abnormal f... |
ORPHA:1837 |
Diaphanospondylodysostosis |
|
Respiratory distress, Missing ribs, Short thorax, Cleft palate, Enlarged thorax, Narrow pelvis bo... |
ORPHA:66637 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Large hands, Taurodont... |
OMIM:157980 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia,... |
ORPHA:96334 |
Blount Disease, Adolescent |
|
Genu varum, Osteochondritis dissecans, Bowing of the legs |
OMIM:259200 |
Acrorenal-Mandibular Syndrome |
|
Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplasia of the ulna, Split hand, Split... |
OMIM:200980 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Craniosynostosis, Brachycephaly, Macrocephaly, Thickened calvaria |
ORPHA:178377 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... |
OMIM:308050 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Car... |
OMIM:613642 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Bowing of the long bones, Dysphagia, Death in adolescence, Short long bone,... |
OMIM:619751 |
Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Apnea, Distal wideni... |
OMIM:602535 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Bowing o... |
OMIM:613849 |
Tarp Syndrome |
|
Finger syndactyly, Apnea, Single transverse palmar crease, Rocker bottom foot, Postaxial polydact... |
ORPHA:2886 |
Non-Distal Duplication 10Q |
|
Frontal bossing, Depressed nasal bridge, Micrognathia, Microcephaly, Brachycephaly, Short nose, C... |
ORPHA:1695 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Coxa vara, Tibial bowing, Pectus carinatum, Reduced bone mineral density, High palate, Abnormal b... |
ORPHA:93315 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibial bowing, P... |
ORPHA:175 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Radial bowing, Madelung deformity, Limited pronation/supination of forearm |
DECIPHER:58 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Mi... |
ORPHA:1765 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Joint dislocation, Micrognathia, Feeding difficulties, Wide mouth, Widely s... |
OMIM:300934 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Left ventricular outfl... |
OMIM:613255 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia |
OMIM:172880 |
Epiphyseal Dysplasia, Multiple, 2 |
|
Epiphyseal dysplasia, Tibial torsion, Knee osteoarthritis, Flattened epiphysis, Irregular epiphys... |
OMIM:600204 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Perching Syndrome |
|
Respiratory distress, Feeding difficulties, High palate, Scoliosis, Dysphagia, Joint contracture,... |
OMIM:617055 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carp... |
OMIM:620269 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro... |
ORPHA:1350 |
Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Scoliosis, Tibial torsion |
OMIM:188800 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Smooth philtrum, Ulnar deviation of the hand, Proximal placement of thumb, Feeding difficulties, ... |
OMIM:620113 |
Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ... |
OMIM:277170 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Pectus excavatum, Multiple prena... |
OMIM:301014 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... |
ORPHA:971 |
Pierre Robin Syndrome |
|
Neonatal respiratory distress, Micrognathia, Feeding difficulties in infancy, Pierre-Robin sequen... |
OMIM:261800 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Rocker bottom foot, Ankle flexion contracture, Micrognathi... |
ORPHA:1143 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypop... |
OMIM:184250 |
Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Palmoplantar hyperkerato... |
OMIM:601812 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Micrognathia, Open bite, Abnormal cortical bone morp... |
ORPHA:2097 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy |
OMIM:192600 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Small for gestational age, Microcephaly, Hypoplasia of the maxilla, Brachy... |
ORPHA:93950 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Scarf Syndrome |
|
Craniosynostosis, Abnormal form of the vertebral bodies, Pectus carinatum, Joint hyperflexibility... |
ORPHA:3134 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Pectus excavatum, Osteoarthritis, Cleft palate, Pectus carinatum, Glossoptosis, Lon... |
ORPHA:166100 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Knee dislocation, Irregular vertebral endplates, High palate... |
OMIM:618363 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone... |
ORPHA:566943 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Narrow... |
OMIM:156530 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Osteopenia, Beaking of vertebral ... |
OMIM:231070 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o... |
OMIM:268305 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures... |
OMIM:300554 |
Glass Syndrome |
|
Dental crowding, Arachnodactyly, Anterior tibial bowing, Conical tooth, Micrognathia, Narrow mout... |
OMIM:612313 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Enlarged epiphyses, Proximal placement of thumb, Flexion contracture, Coxa vara, Pectus carinatum... |
OMIM:613330 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, High, nar... |
OMIM:122470 |
Bowen-Conradi Syndrome |
|
Clinodactyly of the 5th finger, Abnormal joint morphology, Rocker bottom foot, Micrognathia |
OMIM:211180 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Inguinal hernia, Microcephaly, Flexion contracture, Short nose, Failure to t... |
OMIM:618379 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Gastroesophagea... |
ORPHA:95699 |
Aase-Smith Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Trismus, Cleft palate, Apl... |
ORPHA:916 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac wing, Pterygium, ... |
OMIM:263650 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Micrognathia, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Short... |
ORPHA:3404 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, S... |
OMIM:218600 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Ve... |
ORPHA:2631 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Long thorax, Mesomelia, Abnormal pala... |
ORPHA:1277 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Pectus carinatum, Foot olig... |
OMIM:276820 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Dental crowding, Feeding difficulties in infancy, Prominent interphalangea... |
OMIM:618371 |
Rhyns Syndrome |
|
Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly |
OMIM:602152 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious... |
OMIM:617102 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Congestive heart failure |
OMIM:301021 |
Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... |
OMIM:250460 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... |
OMIM:114000 |
17Q21.31 Microduplication Syndrome |
|
Anteverted nares, Microcephaly, Micrognathia, Malar flattening, Short nose, Failure to thrive |
ORPHA:217340 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Camptodactyly of finger, Pectus excavatum, Cleft palate, Dysphagia, Respira... |
OMIM:614399 |
Pyle Disease |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Mandibular prognathia, Persistence of primary t... |
OMIM:265900 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Bowel incontinence, Wide a... |
OMIM:616482 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Rocker bottom foot, Micrognathia, Kyphosis, High palate, Prenatal death, Campto... |
OMIM:618393 |
Moebius Syndrome |
|
Respiratory distress, Micrognathia, Feeding difficulties in infancy, High palate, Lower limb unde... |
OMIM:157900 |
Arthrogryposis, Distal, Type 1C |
|
Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly of toe, Wris... |
OMIM:619110 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... |
ORPHA:2347 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Coxa vara, Tibial bowing, Enthesitis, Hypophosphatemic rickets, Sclerotic vertebral endplates, Ge... |
ORPHA:289176 |
Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, N... |
OMIM:612651 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo... |
ORPHA:93346 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies |
|
Thin upper lip vermilion, Micrognathia, Feeding difficulties in infancy, 2-3 toe syndactyly, Shor... |
OMIM:618608 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Single transverse palmar crease, Micrognathia, Respiratory insufficiency due ... |
OMIM:611890 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... |
OMIM:608636 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Fibrochondrogenesis 2 |
|
Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplast... |
OMIM:614524 |
Scarf Syndrome |
|
Barrel-shaped chest, Coronal craniosynostosis, Pectus carinatum, Abnormal form of the vertebral b... |
OMIM:312830 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Microgn... |
ORPHA:628 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, General... |
ORPHA:85198 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Long clavicles, Increased density of long bones, Single transverse palmar crease, Malar flattenin... |
OMIM:269150 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Flat occiput, Brachycephaly, Microcephaly |
ORPHA:2898 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
Dent Disease 1 |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures... |
OMIM:300009 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, P... |
OMIM:608728 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613424 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspondyly, Delayed o... |
OMIM:617974 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:606053 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre... |
ORPHA:3098 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Distal Arthrogryposis Type 1 |
|
Camptodactyly of finger, Rocker bottom foot, Joint stiffness, Talipes, Ulnar deviation of finger,... |
ORPHA:1146 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Abnormalit... |
OMIM:609324 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Knee flexion contractu... |
OMIM:114300 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion... |
ORPHA:1145 |
Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Depressed nasal bridge, Microcephaly, Micrognathia, Flexion contracture, Brachycephaly, Failure t... |
OMIM:620240 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Long palm, Arachnodactyly, Abnormality of the philtrum, Missing ribs, Aplas... |
ORPHA:2759 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, S... |
OMIM:200610 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Feeding difficulties in infancy, Epiphyseal stippling, Glossoptosis, Death in infancy |
OMIM:614876 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnormal upper li... |
ORPHA:93311 |
Isolated Pierre Robin Syndrome |
|
Neonatal respiratory distress, Micrognathia, Upper airway obstruction, Cleft palate, Glossoptosis |
ORPHA:718 |
Gnathodiaphyseal Dysplasia |
|
Broad jaw, Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, S... |
ORPHA:53697 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the max... |
OMIM:224690 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617270 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Micrognathia, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe... |
OMIM:614078 |
Potocki-Shaffer Syndrome |
|
Prominent nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Micrognathia, Parietal forami... |
ORPHA:52022 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... |
OMIM:612961 |
Chromosome 16P11.2 Deletion Syndrome, 593-Kb |
|
Macrocephaly, Midface retrusion, Micrognathia |
OMIM:611913 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Inguinal hernia, Depressed nasal bridge, Anteverted nares, Small for gestational age, Micrognathi... |
OMIM:615834 |
Cebalid Syndrome |
|
Turricephaly, Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Depresse... |
OMIM:618774 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Narrow mouth, Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvi... |
ORPHA:2370 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Respiratory distress, Rectal prolapse, Hypoplastic facial bones, Feeding diffi... |
OMIM:619793 |
Hypophosphatasia, Childhood |
|
Premature loss of primary teeth, Craniosynostosis, Carious teeth, Bowing of the legs, Rachitic ro... |
OMIM:241510 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Dental crowding, Apnea, Micrognathia, Microglossia, Dental malocclusion, Cl... |
OMIM:614669 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Hypopla... |
OMIM:617895 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
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Retrognathia, Brachycephaly, Microcephaly |
ORPHA:2528 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
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Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Achondrogenesis, Type Ib |
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Micromelia, Hypoplastic ilia, Abdominal distention, Respiratory insufficiency, Stillbirth, Narrow... |
OMIM:600972 |
Spondyloepiphyseal Dysplasia Tarda |
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Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... |
ORPHA:93284 |
Spondyloepiphyseal Dysplasia Congenita |
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Respiratory distress, Limited elbow movement, Coxa vara, Pectus carinatum, Delayed calcaneal ossi... |
OMIM:183900 |
Melnick-Needles Syndrome |
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Micrognathia, Narrow chest, Anisospondyly, Short thorax, Abnormal rib morphology, Cone-shaped epi... |
ORPHA:2484 |
Epiphyseal Dysplasia, Multiple, 5 |
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Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
Boomerang Dysplasia |
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Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
Potocki-Shaffer Syndrome |
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Turricephaly, Underdeveloped nasal alae, Parietal foramina, Brachycephaly, Wide nasal bridge, Sho... |
OMIM:601224 |
Femoral-Facial Syndrome |
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Thin upper lip vermilion, Short femur, Micrognathia, Abnormal rib morphology, Rib fusion, Abnorma... |
ORPHA:1988 |
Orofaciodigital Syndrome Type 10 |
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Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ... |
ORPHA:2756 |
Endosteal Hyperostosis, Worth Type |
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Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle... |
ORPHA:2790 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
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Slender build, Brachycephaly, Macrocephaly |
OMIM:300699 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
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Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi... |
ORPHA:85165 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Micromelia, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch, Vertebral h... |
OMIM:602557 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
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Stiff neck, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Trismus, Joint stiffness, Vertebral wed... |
OMIM:616583 |
Faciocardiomelic Dysplasia, Lethal |
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Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M... |
OMIM:227270 |
Maxillonasal Dysplasia |
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Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Depressed nasal ridge, ... |
ORPHA:1248 |
Diaphanospondylodysostosis |
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Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... |
OMIM:608022 |
Donnai-Barrow Syndrome |
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Malar flattening, Wide anterior fontanel, Short sternum, Intestinal malrotation |
OMIM:222448 |
Mosaic Variegated Aneuploidy Syndrome 1 |
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Micrognathia, Feeding difficulties in infancy, Cleft palate, Short sternum, Long philtrum, Malar ... |
OMIM:257300 |
Dysostosis Multiplex, Ain-Naz Type |
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Glenoid fossa hypoplasia, Abdominal distention, Hip dislocation, Hemivertebrae, Flat acetabular r... |
OMIM:619345 |
Schinzel-Giedion Syndrome |
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Respiratory distress, Abnormal clavicle morphology, Micrognathia, Abnormality of the gingiva, Tib... |
ORPHA:798 |
Rhiny |
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Short nose, Anteverted nares, Inguinal hernia |
OMIM:180360 |
Whistling Face Syndrome, Recessive Form |
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Shoulder flexion contracture, Kyphoscoliosis, Micrognathia, Narrow mouth, Whistling appearance, T... |
OMIM:277720 |
Cerebrocostomandibular Syndrome |
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Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Gast... |
OMIM:117650 |
Multiple Epiphyseal Dysplasia Type 1 |
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Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
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Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg... |
ORPHA:85184 |
Familial Anetoderma |
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Irregular dentition, Lumbar hyperlordosis, High, narrow palate, Abnormal tibia morphology, Genera... |
ORPHA:228277 |
Autosomal Recessive Distal Osteolysis Syndrome |
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Hypoplasia of the maxilla, Midface retrusion, Broad nasal tip |
ORPHA:2776 |
Lethal Osteosclerotic Bone Dysplasia |
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Respiratory distress, Micrognathia, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respirat... |
ORPHA:1832 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
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Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ... |
ORPHA:166002 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
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Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... |
ORPHA:93267 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
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Osteopenia, Thin upper lip vermilion, Joint hypermobility, Abnormality of the hand, Abnormality o... |
ORPHA:576283 |
Nephrosis With Deafness And Urinary Tract And Digital Malformations |
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Bifid distal phalanx of the thumb, Short distal phalanx of hallux, Partial duplication of the dis... |
OMIM:256200 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
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Radial bowing |
OMIM:617993 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
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Anteverted nares, Micrognathia, Unilambdoid synostosis, Brachycephaly, Wide nasal bridge, Plagioc... |
OMIM:618577 |
Cardiomyopathy, Familial Hypertrophic, 8 |
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Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
Mucopolysaccharidosis, Type Ix |
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Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Hyperextensibil... |
OMIM:601492 |
Metatropic Dysplasia |
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Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Kyphosis,... |
ORPHA:2635 |
X-Linked Hypophosphatemia |
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Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... |
ORPHA:89936 |
Thoracomelic Dysplasia |
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Hyperlordosis, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Jo... |
ORPHA:1803 |
Smith-Magenis syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
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Joint dislocation, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toe... |
ORPHA:3201 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
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Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Spondyloepiphyseal Dysplasia Congenita |
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Limited elbow movement, Micrognathia, Reduced bone mineral density, Glossoptosis, Barrel-shaped c... |
ORPHA:94068 |
Exostoses, Multiple, Type Ii |
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Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... |
OMIM:133701 |
Exostoses, Multiple, Type I |
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Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... |
OMIM:133700 |
Anauxetic Dysplasia 3 |
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Femoral bowing, Oligodontia, Gastroesophageal reflux, Narrow chest, Trident hand, Short metacarpa... |
OMIM:618853 |
Butyrylcholinesterase Deficiency |
|
Congestive heart failure, Myocardial infarction |
ORPHA:132 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
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Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Chondrodysplasia, Blomstrand Type |
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Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... |
OMIM:215045 |
Clark-Baraitser Syndrome |
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Depressed nasal bridge, Anteverted nares, Microcephaly, Brachycephaly, Obesity, Dolichocephaly, S... |
OMIM:617752 |
N-Acetylaspartate Deficiency |
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Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:614063 |
Jeune Syndrome |
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Abnormal clavicle morphology, Toe syndactyly, Micromelia, Feeding difficulties in infancy, Postax... |
ORPHA:474 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Joint dislocation, Osteomalacia, Premature loss of primary teeth, Abnormality of the dentition, R... |
ORPHA:93160 |
Gómez-López-Hernández Syndrome |
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Turricephaly, Anteverted nares, Brachycephaly, Midface retrusion |
ORPHA:1532 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
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Delayed eruption of teeth, Increased bone mineral density, Micrognathia, Hyperlordosis, High, nar... |
ORPHA:2780 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Laryngeal stenosis, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Ab... |
ORPHA:93352 |
Ulnar-Mammary Syndrome |
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Deformed radius, Subglottic stenosis, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpa... |
OMIM:181450 |
Joubert Syndrome 18 |
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Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphoscoliosis, Cl... |
OMIM:614815 |
Cerebrooculofacioskeletal Syndrome 3 |
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Rocker bottom foot, Micrognathia, Cleft palate, Talipes equinovarus, Arthrogryposis multiplex con... |
OMIM:616570 |
Multiple Osteochondromas |
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Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Acromegaloid Facial Appearance Syndrome |
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Joint hypermobility, Tapered finger, Micrognathia, Deep philtrum, Large hands, Thick vermilion bo... |
OMIM:102150 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
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Failure to thrive in infancy, Broad nasal tip, Obesity, Macrocephaly, Malar flattening, Short nos... |
OMIM:613670 |
Pseudodiastrophic Dysplasia |
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Frontal bossing, Anteverted nares, Micrognathia, Brachycephaly, Camptodactyly, Malar flattening, ... |
OMIM:264180 |
Epiphyseal Dysplasia, Multiple, 7 |
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Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Rhizomelic Dysplasia, Ain-Naz Type |
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Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
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Hypoplasia of the ulna, Broad hallux, Talipes, Ovoid vertebral bodies, Abnormality of the vertebr... |
ORPHA:1856 |
Non-Syndromic Bicoronal Craniosynostosis |
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Brachycephaly, Midface retrusion |
ORPHA:35099 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
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Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o... |
ORPHA:2669 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ... |
OMIM:616300 |
Osteogenesis Imperfecta, Type V |
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Osteopenia, Hyperextensibility of the finger joints, Pes planus, Wormian bones, Recurrent fractur... |
OMIM:610967 |
Achondrogenesis Type 1A |
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Short palm, Multiple rib fractures, Recurrent fractures, Micromelia, Micrognathia, Abnormal encho... |
ORPHA:93299 |
Pseudoachondroplasia |
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Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... |
OMIM:177170 |
Endosteal Hyperostosis, Autosomal Dominant |
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Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morpholo... |
OMIM:144750 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Dental crowding, Wormian bones,... |
OMIM:269300 |
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome |
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Micrognathia, Joint stiffness, Whistling appearance, Pierre-Robin sequence, Abnormal shoulder mor... |
ORPHA:1150 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Secondary microcephaly, Brachycephaly |
OMIM:309530 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
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Hip contracture, Scapular winging, Internally rotated shoulders, Dental crowding, Ankle flexion c... |
OMIM:617468 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing, Bronchiectasis |
OMIM:241600 |
Osteogenesis Imperfecta, Type Xxi |
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Barrel-shaped chest, Pes planus, Recurrent fractures, Coxa valga, Bowing of the legs, Pectus exca... |
OMIM:619131 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
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Abnormal distal phalanx morphology of finger, Abnormality of the hand, Micrognathia, Feeding diff... |
ORPHA:1387 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin... |
ORPHA:93351 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Toe syndactyly, Median cleft lip, Micromelia, Micrognathia, Postaxial hand poly... |
OMIM:241800 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Short nose, Brachycephaly, Micrognathia |
ORPHA:1514 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac crest serrat... |
ORPHA:239 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot, Malar flattening |
OMIM:183700 |
Morbid Obesity And Spermatogenic Failure |
|
Myocardial infarction, Congestive heart failure, Oligozoospermia, Azoospermia, Hypertension |
OMIM:615703 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Rhizomelia, Micrognathia, Submucous cleft hard palate, Flexion contrac... |
OMIM:222765 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
11 pairs of ribs, Hyperextensibility of the finger joints, Neonatal respiratory distress, Microgn... |
OMIM:618356 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure |
OMIM:236750 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... |
OMIM:604169 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Mandibular prognathia, Brachycephaly |
OMIM:309545 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Death in infancy, Rocker bottom foot, Micrognathia, Feeding difficulties in infancy, Death in chi... |
OMIM:618766 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... |
ORPHA:1307 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Micrognathia, Downturned corners of mouth, High palate, Narrow chest, Thoracic kyphosis, Abnormal... |
ORPHA:163649 |
Atelosteogenesis Type Ii |
|
Laryngeal stenosis, Cervical kyphosis, Micromelia, Micrognathia, Tracheobronchomalacia, Narrow ch... |
ORPHA:56304 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Femoral retroversion, Micrognathia, Knee flexion contractur... |
OMIM:616531 |
Endocardial Fibroelastosis |
|
Cryptorchidism, Hypoplasia of penis, Congestive heart failure, Restrictive cardiomyopathy |
ORPHA:2022 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the... |
ORPHA:429 |
Radio-Renal Syndrome |
|
Respiratory distress, Micromelia, Micrognathia, High, narrow palate, Dyspnea, Hypoplasia of the r... |
ORPHA:3015 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Turricephaly, Depressed nasal bridge, Anteverted nares, Craniosynostosis, Micrognathia, Brachycep... |
ORPHA:171839 |
Autosomal Recessive Stickler Syndrome |
|
Epiphyseal dysplasia, Micrognathia, Cleft palate, Genu valgum, Joint hyperflexibility, Irregular ... |
ORPHA:250984 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, Gastrointestinal i... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, Gastrointestinal i... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, Gastrointestinal i... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, Gastrointestinal i... |
ORPHA:881 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Osteomalacia, Coxa valga, Avascular necrosis of the capital femora... |
ORPHA:1901 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... |
ORPHA:1275 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Aggressive behavior, Chorea, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive ... |
OMIM:619150 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Pectus carinatum, Vertebral segmentation defect, Narrow greater sciatic no... |
OMIM:312870 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn... |
OMIM:271665 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Abnormal pelvic ... |
ORPHA:2928 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro... |
ORPHA:63446 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micromelia, Bowing of the legs, Micrognathia, Flexion contracture, Narrow chest, Pterygium, Aniso... |
ORPHA:1865 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa... |
ORPHA:249 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition |
OMIM:216300 |
Acrodysostosis |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the r... |
ORPHA:950 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... |
ORPHA:1426 |
Oculofaciocardiodental Syndrome |
|
Feeding difficulties in infancy, Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short ... |
ORPHA:2712 |
Aminopterin Syndrome Sine Aminopterin |
|
Frontal bossing, Inguinal hernia, Decreased body weight, Micrognathia, Microcephaly, Brachycephal... |
OMIM:600325 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Pierpont Syndrome |
|
Wide nose, Broad nasal tip, Microcephaly, Brachycephaly, Decreased body weight, Malar flattening,... |
OMIM:602342 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Abnormal dental... |
ORPHA:319195 |
Clark-Baraitser syndrome |
|
Joint laxity, Exaggerated median tongue furrow, Genu recurvatum, Tapered finger, Kyphosis, Thick ... |
OMIM:300602 |
Pierpont Syndrome |
|
Small for gestational age, Wide nasal ridge, Abnormal subcutaneous fat tissue distribution, Brach... |
ORPHA:487825 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Congestive heart failure, Dilated cardiomyopathy, Azoospermia, Car... |
OMIM:602390 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ... |
OMIM:613091 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Flat occiput, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Micrognathia, Bro... |
OMIM:613792 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Brachycephaly, Choanal atresia, Craniosynostosis, Midface retrusion |
OMIM:612247 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Conical tooth, Feeding difficulties in infancy, Prominent interp... |
OMIM:135900 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Micrognathia, Microcephaly, Brachycephaly, Joint contracture, Short nose |
OMIM:615419 |
Ring Chromosome 8 Syndrome |
|
Frontal bossing, Short nose, Anteverted nares |
ORPHA:1450 |
Short Stature, Brussels Type |
|
Microretrognathia, Delayed epiphyseal ossification, Narrow chest, Calcification of cartilage |
ORPHA:2867 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Frontal bossing, Depressed nasal bridge, Multiple lipomas, Macrocephaly, Short nose, Midface retr... |
ORPHA:210548 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,... |
OMIM:251450 |
Sillence Syndrome |
|
Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular roof, Bulbou... |
ORPHA:3168 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Short nose, Anteverted nares, Micrognathia |
ORPHA:2015 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Gingival... |
OMIM:616331 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Micrognathia, Meta... |
OMIM:255800 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognath... |
OMIM:620369 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Kyphoscoliosis, Micrognathia,... |
OMIM:215100 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Dental crowding, Metaphyseal widening, Cranial hyperostosis, Flared metaph... |
OMIM:123000 |
Desbuquois Dysplasia 2 |
|
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Pectus carinatum, Knee di... |
OMIM:615777 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Feeding difficulties in infancy, Abdominal distention, Delayed epiphyseal o... |
ORPHA:226313 |
Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Epiphyseal dysplasia, Enlarged epiphyses, Pierre-Robin sequence, Premature osteoarthritis, Cleft ... |
OMIM:184840 |
Tetrasomy 9P |
|
Joint dislocation, Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short... |
ORPHA:3310 |
9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares, Midface retrusion, Microcephaly |
DECIPHER:52 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis... |
OMIM:612350 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Micrognathia, Limited knee fl... |
OMIM:615065 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
Atransferrinemia |
|
Congestive heart failure |
OMIM:209300 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Micrognathia... |
OMIM:258860 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly ... |
ORPHA:2554 |
Isolated Osteopoikilosis |
|
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... |
ORPHA:166119 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... |
ORPHA:2496 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Edema of the dorsum of feet, Tapered finger, Flexion contracture, Hyperexte... |
ORPHA:544503 |
Hypophosphatasia, Infantile |
|
Death in infancy, Apnea, Micromelia, Bowing of the legs, Abnormality of the dentition, Anorexia, ... |
OMIM:241500 |
Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Joint stiffness, Adducted thumb, U... |
ORPHA:1147 |
Pycnodysostosis |
|
Increased bone mineral density, Persistent open anterior fontanelle, Aplastic clavicle, Persisten... |
OMIM:265800 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Abnormality of the philtrum, Micromelia... |
ORPHA:1597 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Narrow nasal bridge, Flat occiput, Microcephaly, Abnormal zygomatic bone m... |
ORPHA:2511 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Brachycephaly, Microcephaly |
OMIM:620200 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Frontal bossing, Hip contracture, Anteverted nares, Prominent nasal bridge, Cachexia, Prominent n... |
OMIM:616801 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder |
OMIM:618709 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Joi... |
ORPHA:2167 |
Qazi-Markouizos Syndrome |
|
Tapered finger, Pectus excavatum, High, narrow palate, Abdominal distention, Hypoplasia of teeth,... |
ORPHA:3010 |
Blomstrand Lethal Chondrodysplasia |
|
Micrognathia, Narrow chest, Distal shortening of limbs, Short metacarpal, Increased bone mineral ... |
ORPHA:50945 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte... |
OMIM:216340 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:1345 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial... |
OMIM:617088 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Micrognathia, Kyphosis, Flexion contracture, Hip dislocation, Elbow flexion contracture... |
ORPHA:75840 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus deformity, Meta... |
OMIM:224400 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Arachnodactyly, Long foot, Micrognathia, High, narrow palate, Dyspnea, Feed... |
ORPHA:2707 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms |
OMIM:617862 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Polydactyly |
OMIM:615993 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Abnormal pala... |
ORPHA:1506 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Weaver Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Micrognathia, Feeding difficulties in inf... |
ORPHA:3447 |
Orofaciodigital Syndrome Xix |
|
Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Accessory oral frenulum, C... |
OMIM:620107 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot,... |
OMIM:271225 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Small for gestational age, Wide nasal bridge, Microcephaly |
OMIM:618302 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... |
OMIM:300106 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Cleft soft palate, Abnormality of the dentition, Micrognathia, Gingival... |
OMIM:618529 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Micrognathia, Microcephaly, Brachycephaly, Short nose, Midface retrusion |
ORPHA:1913 |
Ck Syndrome |
|
Dental crowding, Micrognathia, Hyperlordosis, Kyphosis, High palate, Scoliosis, Malar flattening,... |
OMIM:300831 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Short palm, Respiratory distress, Ankle flexion contracture, Micrognathia, High, narrow palate, S... |
OMIM:608799 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br... |
ORPHA:1278 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Frontal bossing, Brachycephaly, Depressed nasal bridge, Wide nasal bridge |
OMIM:264470 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... |
ORPHA:3472 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Capitate-hamat... |
OMIM:271650 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Anteverted nares, Microcephaly, Bulbous nose, Brachycephaly, Wide nasal bridge, Decreased body we... |
OMIM:300958 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Malar flattening, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Sho... |
OMIM:118651 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ... |
ORPHA:2972 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Micrognathia, Joint stiffness, Cleft palate, Respiratory insufficiency, Tooth agenesis, Vertebral... |
ORPHA:1166 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl... |
ORPHA:2141 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Hypoplastic ischia, Bowing of the legs, Micrognathia, Abnormality of the... |
ORPHA:313855 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus cari... |
OMIM:253000 |
Xq28 (MECP2) duplication |
|
Depressed nasal bridge, Microcephaly, Brachycephaly, Malar flattening, Failure to thrive |
DECIPHER:45 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Mandibular prognathia, Frontal bossing, Microcephaly, Brachycephaly, Macrocephaly, Plagiocephaly,... |
OMIM:619721 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Feeding difficulti... |
OMIM:611209 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Pa... |
OMIM:215140 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia |
OMIM:616198 |
Lujan-Fryns Syndrome |
|
Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Brachyc... |
ORPHA:776 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Death in infancy, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality... |
ORPHA:163966 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis, Enlarged joints, Bowing of the legs, Pectus excavatum, Limb undergrowth, Li... |
ORPHA:156728 |
Coxopodopatellar Syndrome |
|
Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog... |
ORPHA:1509 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, Ovoid vertebral bodies... |
OMIM:260400 |
Charlie M Syndrome |
|
Finger syndactyly, Micrognathia, Narrow mouth, Non-midline cleft lip, Split hand, Tooth agenesis,... |
ORPHA:1406 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Microcephaly, ... |
OMIM:617364 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening... |
ORPHA:536467 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Failure to thrive, Brachycephaly, Microcephaly |
OMIM:309541 |
Spondylocarpotarsal Synostosis Syndrome |
|
Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Verte... |
OMIM:272460 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu... |
OMIM:602418 |
Occipital Horn Syndrome |
|
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Pectus carinatum, Gastroesophageal ref... |
ORPHA:198 |
Craniosynostosis, Herrmann-Opitz Type |
|
Turricephaly, Craniosynostosis, Micrognathia, Brachycephaly, Malar flattening, Short nose, Convex... |
ORPHA:2145 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp... |
OMIM:215150 |
Osteopetrosis, Autosomal Dominant 1 |
|
Calvarial osteosclerosis, Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Ost... |
OMIM:607634 |
Achondrogenesis |
|
Frontal bossing, Inguinal hernia, Anteverted nares, Micrognathia, Macrocephaly, Umbilical hernia,... |
ORPHA:932 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Brachycephaly, Malar f... |
ORPHA:93262 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia... |
OMIM:609425 |
Achondroplasia |
|
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
Stickler Syndrome, Type I |
|
Arthropathy, Arachnodactyly, Micrognathia, Pectus excavatum, Joint stiffness, Irregular femoral e... |
OMIM:108300 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Hemivertebrae, Pectus ca... |
ORPHA:2911 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Narrow mouth, W... |
OMIM:201170 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Single transverse palmar crease, Micrognathia, Pierre-Robin sequence, F... |
OMIM:613604 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Inguinal hernia, Microcephaly, Brachycephaly, Plagiocephaly, Failure to thrive |
OMIM:618603 |
Hyperprolinemia, Type I |
|
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:239500 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Micrognathia, Feeding difficulties, Short foot, High palate, Joint contracture of the 5th finger,... |
OMIM:248910 |
Orofaciodigital Syndrome Type 2 |
|
Apnea, Micrognathia, Complete duplication of hallux phalanx, Tachypnea, Finger clinodactyly, High... |
ORPHA:2751 |
Arthrochalasia Ehlers-Danlos Syndrome |
|
Joint dislocation, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Micrognathia,... |
ORPHA:1899 |
Pentasomy X |
|
Camptodactyly of finger, Micrognathia, Small hand, Short foot, Radioulnar synostosis, Hip dysplas... |
ORPHA:11 |
Acrocephalopolydactyly |
|
Genu recurvatum, Short long bone, Protuberant abdomen, Limb undergrowth, Thoracic hypoplasia, Bra... |
ORPHA:221054 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly |
OMIM:614526 |
Ollier Disease |
|
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... |
ORPHA:296 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Thin upper lip vermilion, Death in infancy, Neonatal respiratory distress, ... |
OMIM:615042 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Micrognathia, Lower limb asymmetry, Abnormal rib morphology, Cleft palat... |
ORPHA:1703 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Thoracic kyphoscoliosis, Vertebral fusion, Dental crowding, Lum... |
ORPHA:313892 |
Chung-Jansen Syndrome |
|
Tapered finger, Micrognathia, Feeding difficulties, Hip dysplasia, Thin vermilion border, High pa... |
OMIM:617991 |
Trigonocephaly 1 |
|
Omphalocele, Craniosynostosis, Microcephaly, Wide nasal bridge, Trigonocephaly, Short nose |
OMIM:190440 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde... |
ORPHA:1159 |
Perlman Syndrome |
|
Inguinal hernia, Anteverted nares, Femoral hernia, Micrognathia, Wide nasal bridge, Macrocephaly,... |
ORPHA:2849 |
Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Bell-shap... |
OMIM:614592 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Syndactyly, Neonatal respiratory distress, Proximal placement of thumb, Mic... |
OMIM:217980 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Bulbous nose, Midface retrusion, Progressive microcephaly |
OMIM:618737 |
Coffin-Siris Syndrome 11 |
|
Prominent metopic ridge, Cleft soft palate, Feeding difficulties in infancy, Esophageal atresia, ... |
OMIM:618779 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... |
ORPHA:83 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Mandibular prognathia, Anteverted nares, Depressed nasal ridge, Brachycephaly, Prominent occiput,... |
OMIM:618672 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Delayed eruption o... |
OMIM:620099 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Feeding difficulties in infancy, Aplasia of the pe... |
ORPHA:570 |
Cree Mental Retardation Syndrome |
|
Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Cleft soft palate, Micrognathia, Pectus excav... |
OMIM:606851 |
Stickler Syndrome, Type Ii |
|
Arthropathy, Arachnodactyly, Micrognathia, Long fingers, High, narrow palate, Pierre-Robin sequen... |
OMIM:604841 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... |
OMIM:147891 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Bifid uvula, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Accessory or... |
ORPHA:672 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Respiratory distress, Apnea, Micromelia, Feeding difficulties in infancy, Metaphyseal... |
ORPHA:3206 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasi... |
ORPHA:3082 |
Achard Syndrome |
|
Broad skull, Brachycephaly, Micrognathia |
OMIM:100700 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft palate, Bifid uvula |
ORPHA:2521 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
High palate, Abnormal morphology of ulna, Abnormal metacarpal morphology |
ORPHA:2233 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Pectus carinatum, Cone... |
OMIM:190350 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal... |
ORPHA:90652 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Asthma, Coxa vara, ... |
OMIM:616716 |
2Q32Q33 Microdeletion Syndrome |
|
Broad hallux phalanx, Arachnodactyly, Dental crowding, Micrognathia, Narrow mouth, Cleft palate, ... |
ORPHA:251019 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Prominent metopic ridge, Tented upper lip vermilion, Apnea... |
ORPHA:314655 |
Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Abnormal foot morphology, Flexion contracture, Hip dislocation, Respiratory insuf... |
OMIM:614678 |
Temtamy Syndrome |
|
Pes planus, Micrognathia, Short toe, Thick lower lip vermilion, Genu varum, Joint hyperflexibilit... |
ORPHA:1777 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
German Syndrome |
|
Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Brachycephaly, Wide nasal bridge, ... |
ORPHA:2077 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Anteverted nares, Microcephaly, Delayed eruption of permanent teeth, Trigonocephaly, Short nose |
OMIM:618506 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Arachnodactyly, Overlapping toe, Thoracolumbar scoliosis, Micrognathia, Metatarsus adductus, Shor... |
ORPHA:436003 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol... |
ORPHA:3429 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Micrognathia, Pectus excavatum, Gingival overgrowth, Cleft palate, Ulnar deviation of finger, Sho... |
ORPHA:2013 |
Rhizomelic Syndrome |
|
Rhizomelia, Micrognathia, Bifid distal phalanx of the thumb, Wide anterior fontanel, Hip dislocat... |
OMIM:268250 |
Congenital Myopathy 20 |
|
Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe joint contracture, Microgna... |
OMIM:620310 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long bone, Decreased calvarial o... |
OMIM:618265 |
Craniofrontonasal Dysplasia |
|
Frontal bossing, Camptodactyly of finger, Craniosynostosis, Congenital diaphragmatic hernia, Micr... |
ORPHA:1520 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Arthrogryposis, Distal, Type 2B1 |
|
Mandibular prognathia, Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger,... |
OMIM:601680 |
Auriculocondylar Syndrome |
|
Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of t... |
ORPHA:137888 |
Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Brachycephaly, Multipl... |
ORPHA:207 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, Hemivertebrae, Coxa vara, Pectus carinatum, Gastroesophageal ref... |
OMIM:614701 |
Craniofacial-Deafness-Hand Syndrome |
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Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Hypoplasi... |
ORPHA:1529 |
Split-Hand/Foot Malformation 1 |
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Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Short columella, Dental malocclusion, Short nose |
OMIM:155050 |
Cornelia De Lange Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Broad nasal tip, Micrognathia, ... |
OMIM:300882 |
Craniosynostosis 2 |
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Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Triphalangeal thu... |
OMIM:604757 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Abnormal dental morphology, Micrognathia, Pectus excavatum, Malar p... |
ORPHA:2522 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Brachycephaly, Obesity, Wide nasal bridge, Microcephaly |
ORPHA:352530 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose, Small for gestational age, Primary microcephaly |
OMIM:245570 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Pectus excavatum, High, narrow pal... |
ORPHA:957 |
Hemochromatosis, Type 2B |
|
Congestive heart failure, Hypogonadism, Cardiomyopathy |
OMIM:613313 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Micrognathia, Elbow dislocation, Hypoplasia of the maxilla, Irregular fe... |
OMIM:613805 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular e... |
OMIM:614096 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Micrognathia, Abnormality of the elbow, Abnormal rib morphology, Limitation ... |
ORPHA:1486 |
Solitary Bone Cyst |
|
Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Pathologic fract... |
ORPHA:83468 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Hypoplastic scapulae, Camptodactyly of finger, Long fingers, Thick lower lip vermi... |
OMIM:256040 |
Osteogenesis Imperfecta, Type Xiii |
|
Femoral bowing, Pectus carinatum, Enlarged thorax, Reduced bone mineral density, Dentinogenesis i... |
OMIM:614856 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Epilepsy, Progressive Myoclonic, 9 |
|
Short thumb, Microglossia, Scoliosis |
OMIM:616540 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,... |
ORPHA:457395 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Rhizomeli... |
OMIM:616229 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d... |
ORPHA:968 |
Omodysplasia 2 |
|
Short humerus, Tented upper lip vermilion, Bilateral cleft lip, Micrognathia, Anterior wedging of... |
OMIM:164745 |
Craniosynostosis 6 |
|
Turricephaly, Craniosynostosis, Microcephaly, Parietal foramina, Brachycephaly, Plagiocephaly, Ri... |
OMIM:616602 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Micrognathia, Small hand, Feeding difficulties, Short foot, High palate, Short philtrum, Scoliosi... |
ORPHA:254531 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Seckel Syndrome 1 |
|
Dental crowding, Abnormal finger flexion crease, Single transverse palmar crease, Selective tooth... |
OMIM:210600 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... |
OMIM:253010 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Microce... |
ORPHA:1327 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Micrognathia, Crowded maxillary incisors, Lower limb asymmetry, Abnormal... |
ORPHA:2063 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Intestinal malrotation, Micrognathia, Carious teeth, Talon cusp, Dental... |
OMIM:613684 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Congenital hip dislocation, Femur fracture, Single transverse palmar crease, Ulnar... |
OMIM:618291 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Rocker bottom foot, Camptodactyly of finger, Micrognathia, Kyphoscoliosis, Adducted thumb, Flared... |
OMIM:610758 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Feeding difficulties in infancy, Sh... |
ORPHA:193 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
11 pairs of ribs, Hip contracture, Pursed lips, Neonatal respiratory distress, Micrognathia, Meta... |
OMIM:616266 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Micrognathia, Lower... |
OMIM:615761 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Micrognathia, High, narrow palate, Flexion contracture, Knee flexion... |
ORPHA:536516 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Respiratory distress, Rocker bottom foot, Feeding difficulties, Dysphagia, Add... |
ORPHA:89844 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Hypoplasia of t... |
ORPHA:2588 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ... |
ORPHA:2050 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Frontal bossing, Depressed nasal bridge, Bulbous nose, Brachycephaly, Obesity, Plagiocephaly, Mac... |
OMIM:618430 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Chromosome 16Q22 Deletion Syndrome |
|
Prominent metopic ridge, Broad hallux, Single transverse palmar crease, Micrognathia, Wide anteri... |
OMIM:614541 |
Acrocraniofacial Dysostosis |
|
Craniosynostosis, Tapered finger, Coxa valga, Micrognathia, Pectus excavatum, Cleft palate, Ulnar... |
ORPHA:949 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Respiratory distress, Wide cranial sutures, Short femur, Metaphyseal spurs, Recurrent... |
OMIM:618188 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Failure to thrive, Micrognathia, Hypoplasia of the maxilla, Broad nasal ti... |
OMIM:620157 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Achondrogenesis Type 1B |
|
Frontal bossing, Anteverted nares, Femoral hernia, Micrognathia, Macrocephaly, Umbilical hernia, ... |
ORPHA:93298 |
Wieacker-Wolff Syndrome |
|
Apnea, Proximal placement of thumb, Micrognathia, High palate, Narrow chest, Neonatal respiratory... |
OMIM:314580 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:617830 |
Pontocerebellar Hypoplasia, Type 3 |
|
Depressed nasal bridge, Brachycephaly, Progressive microcephaly, Decreased body weight |
OMIM:608027 |
Meier-Gorlin Syndrome 3 |
|
Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Gastroesophageal reflux,... |
OMIM:613803 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Short humerus, Thin upper lip vermilion, Short femur, Rhizomelia, Sandal ga... |
OMIM:607143 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota... |
ORPHA:93259 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Abnormal form of the vertebral ... |
ORPHA:2636 |
Atelosteogenesis Type I |
|
Joint dislocation, Laryngeal stenosis, Short femur, Rhizomelia, Micrognathia, Malrotation of colo... |
ORPHA:1190 |
Recombinant Chromosome 8 Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Brachycephaly, Secondary microcephaly, Ca... |
OMIM:179613 |
17P13.3 Microduplication Syndrome |
|
Frontal bossing, Wide nose, Inguinal hernia, Short nose |
ORPHA:217385 |
Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Micrognathia, Knee dislocation, High palate, Short tibia, Verteb... |
ORPHA:56305 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Abnormal dental enamel morphology, Coxa valga, Grayi... |
ORPHA:582 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, Ost... |
OMIM:212720 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... |
OMIM:618052 |
Crisponi Syndrome |
|
Death in infancy, Camptodactyly of finger, Micrognathia, Narrow mouth, Kyphosis, Flexion contract... |
ORPHA:1545 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Congestive heart failure, Left ventricular outflow tra... |
OMIM:614980 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Recurrent fractures, Microg... |
ORPHA:3409 |
Cornelia De Lange Syndrome 2 |
|
Anteverted nares, Prominent nasal bridge, Microcephaly, Micrognathia, Brachycephaly |
OMIM:300590 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,... |
OMIM:610682 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the maxilla, Macrocephaly, Slender b... |
OMIM:300676 |
9Q21.13 Microdeletion Syndrome |
|
Talipes, Craniosynostosis, Abnormal tongue morphology, Gastrointestinal dysmotility, Downturned c... |
ORPHA:531151 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Tented upper lip vermilion, Overlapping toe, Flexion contracture, Pectus ca... |
OMIM:619383 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Increased vertebral height, Enlarged thorax, Clinodactyly... |
ORPHA:2616 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... |
OMIM:259600 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To... |
ORPHA:2863 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Barrel-shaped chest, Short metacarpal, Enlarged joints, Rhizomelia, Ky... |
ORPHA:263463 |
Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widen... |
OMIM:259770 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Truncal obesity, Short nose, Macrocephaly |
ORPHA:2429 |
Van Bogaert-Hozay Syndrome |
|
Tooth malposition, Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micr... |
OMIM:277150 |
Smith-Mccort Dysplasia 2 |
|
Mandibular prognathia, Short metatarsal, Pectus carinatum, Short phalanx of finger, Barrel-shaped... |
OMIM:615222 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:615440 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb |
OMIM:602200 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Micrognathia, Feeding difficulties in infancy, Acromicria, Small hand, Short foot, Downturned cor... |
ORPHA:254525 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
Muenke Syndrome |
|
Dental malocclusion, Brachycephaly, Plagiocephaly, Macrocephaly, Malar flattening, Coronal cranio... |
OMIM:602849 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Short palm, Pes planus, Kyphoscoliosis, Tapered finger, Carious teeth, Narrow mouth, Micrognathia... |
OMIM:272430 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Wormian bones, Decreased fibul... |
OMIM:616897 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short metatarsal, Pectus carinatum, Irregular vertebral e... |
OMIM:271700 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Anteverted nares, Brachycephaly |
OMIM:618859 |
Pycnodysostosis |
|
Abnormal clavicle morphology, Obtuse angle of mandible, Persistent open anterior fontanelle, Micr... |
ORPHA:763 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Neonatal respiratory distress, Bowed humerus, Short lingual frenul... |
OMIM:619479 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... |
ORPHA:1788 |
X-Linked Intellectual Disability, Wilson Type |
|
Mandibular prognathia, Inguinal hernia, Brachycephaly, Microcephaly |
ORPHA:85290 |
Presynaptic Congenital Myasthenic Syndromes |
|
Congenital hip dislocation, Pectus carinatum, High palate, Gastroesophageal reflux, Microretrogna... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Congenital hip dislocation, Pectus carinatum, High palate, Gastroesophageal reflux, Microretrogna... |
ORPHA:590 |
Hypophosphatasia, Adult |
|
Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t... |
OMIM:146300 |
Chromosome 3Q29 Duplication Syndrome |
|
Microcephaly, Bulbous nose, Wide nasal bridge, Obesity, Macrocephaly, Short nose |
OMIM:611936 |
Seckel Syndrome 5 |
|
11 pairs of ribs, Pes planus, Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, ... |
OMIM:613823 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia... |
OMIM:212780 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Failure to thrive, Flat occiput, Prominent nasal bridge, Microcephaly, Flexion contracture, Brach... |
OMIM:617452 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Small for gestational age, Hypoplasia of the maxilla, Congenital generalized lipodystrophy, Gener... |
OMIM:608154 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, E... |
ORPHA:2872 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to... |
ORPHA:989 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... |
ORPHA:75508 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Laryngeal stenosis, Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delaye... |
ORPHA:93360 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Midface retrusio... |
ORPHA:1540 |
Sporadic Fetal Brain Disruption Sequence |
|
Prominent occiput, Plagiocephaly, Microcephaly |
ORPHA:1665 |
Summitt Syndrome |
|
Wide nose, Camptodactyly of finger, Craniosynostosis, Depressed nasal ridge, Obesity, Plagiocepha... |
ORPHA:3210 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Protruding tongue, Gingival overgrowth, Reduced bone ... |
ORPHA:561 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Short nose, Obesity |
OMIM:300577 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Joint stiffness, Non-mi... |
ORPHA:245 |
Congenital Disorder Of Glycosylation, Type Il |
|
Frontal bossing, Depressed nasal bridge, Microcephaly, Brachycephaly, Short nose, Failure to thrive |
OMIM:608776 |
Frontonasal Dysplasia 1 |
|
Frontal cutaneous lipoma, Pericallosal lipoma, Broad nasal tip, Hypoplasia of the maxilla, Bifid ... |
OMIM:136760 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia, Recurrent aspi... |
OMIM:300484 |
Coffin-Siris Syndrome 6 |
|
Kyphoscoliosis, Micrognathia, Pectus excavatum, High, narrow palate, Deep philtrum, Cleft palate,... |
OMIM:617808 |
Chopra-Amiel-Gordon Syndrome |
|
Microcephaly, Flared nostrils, Brachycephaly, Macrocephaly, Thick nasal alae, Midface retrusion |
OMIM:619504 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Missing ribs, Micrognathia, Humeroradial synostosis, Cra... |
OMIM:251230 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Metaphyseal widening, Abnormal thorax morphology, Abnormal form of the vertebral bo... |
ORPHA:73230 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... |
OMIM:611705 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Underdeveloped nasal alae, Micrognathia, Microcepha... |
OMIM:263210 |
Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Broad nasal tip, Micrognathia, Brachycephaly, Macrocephaly, Failure to... |
OMIM:609757 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... |
OMIM:612847 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Long foot, Abnormal thumb morphology, Metatarsus adductus, Tibial bowing, Macroglossia, Large han... |
ORPHA:500095 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Typical Nemaline Myopathy |
|
Micrognathia, Pectus excavatum, Hyperlordosis, Kyphosis, Flexion contracture, Hip dislocation, Re... |
ORPHA:171436 |
19P13.3 Microduplication Syndrome |
|
Pes cavus, Kyphoscoliosis, Micrognathia, Long fingers, Hip dislocation, Osteoporosis, Cleft palat... |
ORPHA:447980 |
Cednik Syndrome |
|
Congestive heart failure, Hypogonadism |
ORPHA:66631 |
Camurati-Engelmann Disease |
|
Anorexia, Feeding difficulties in infancy, Abnormal tibia morphology, Craniofacial osteosclerosis... |
ORPHA:1328 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... |
OMIM:600002 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... |
OMIM:225500 |
Developmental And Epileptic Encephalopathy 30 |
|
Death in infancy, Abnormal repetitive mannerisms |
OMIM:616341 |
Kinsship Syndrome |
|
Mandibular prognathia, Osteopenia, Single transverse palmar crease, Micrognathia, Downturned corn... |
OMIM:619297 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Joint laxity, Respiratory distress, Postaxial polydactyly, Tapered finger, Abnormality of the den... |
OMIM:300968 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Micrognathia, Wrist swelling, Limitation of joint mobility, Osteolysis, ... |
ORPHA:2774 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Osteoarthritis, Pectus carinatum, High palate, Bilateral coxa valga, ... |
OMIM:615582 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Short nose, Anteverted nares |
ORPHA:1355 |
Trisomy 8Q |
|
Camptodactyly of finger, Micrognathia, Joint stiffness, Non-midline cleft lip, Bone cyst, Orofaci... |
ORPHA:1752 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Gen... |
ORPHA:2831 |
Trichorhinophalangeal Syndrome Type 2 |
|
Joint dislocation, Thin upper lip vermilion, Bilateral single transverse palmar creases, Talipes,... |
ORPHA:502 |
Chitayat Syndrome |
|
Hallux valgus, Respiratory distress, Pectus excavatum, Thick vermilion border, Tracheomalacia, Br... |
OMIM:617180 |
Sandhoff Disease |
|
Congestive heart failure |
ORPHA:796 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Primary testicular failure, Atrial fib... |
OMIM:115250 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Abnormality of the dentition, Avascular necrosis of th... |
ORPHA:77258 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis... |
OMIM:194350 |
Opsismodysplasia |
|
Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Short metacarpal... |
OMIM:258480 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Micrognathia, Abnormal foot morphology, Flexion contracture, 2-3 toe synd... |
OMIM:618186 |
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Microretrognathia, Joint laxity, Joint dislocation, High palate, Short clavicles, Short 4th metac... |
OMIM:606220 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Micromelia, Micrognathia, Anisospondyly, Respiratory insufficiency, Sho... |
OMIM:224410 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure |
OMIM:300886 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Thin long bone diaphyses, Recurrent fractures, Kyphoscoliosis, Hip d... |
OMIM:616507 |
Familial Cutaneous Collagenoma |
|
Congestive heart failure, Angina pectoris, Cardiomyopathy |
ORPHA:53296 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia |
ORPHA:225 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate, Micrognathia |
OMIM:613857 |
Thoracolaryngopelvic Dysplasia |
|
Laryngeal stenosis, Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, ... |
OMIM:187760 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Frontal bossing, Inguinal hernia, Brachycephaly, Atrophic scars, Camptodactyly, Short nose, Midfa... |
OMIM:615539 |
Mandibuloacral Dysplasia |
|
Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, Contractures of t... |
ORPHA:2457 |
Chromosome 5P13 Duplication Syndrome |
|
Frontal bossing, Turricephaly, Small for gestational age, Craniosynostosis, Bulbous nose, Brachyc... |
OMIM:613174 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Proximal placement of thumb, Micrognathia, Feeding difficulties in infancy,... |
OMIM:610536 |
Short Stature-Micrognathia Syndrome |
|
Joint laxity, Rhizomelia, Bowing of the legs, Coxa valga, Micrognathia, Metaphyseal widening, 2-3... |
OMIM:617164 |
Chromosome 2Q37 Deletion Syndrome |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Brachycephaly, Obesity, Mal... |
OMIM:600430 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619470 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Slender nose, Micrognathia, Microcephaly, Flexion contracture, Wide nasal bridge, Brachycephaly, ... |
ORPHA:562528 |
Bardet-Biedl Syndrome 8 |
|
Brachycephaly, Obesity |
OMIM:615985 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Vertebral se... |
ORPHA:251014 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Micrognathia, Respiratory insufficiency, High palate, Narrow mouth, Retrognathia... |
OMIM:615959 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Thin ribs, Feeding difficulties, High palate, Neonatal de... |
OMIM:300219 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micrognathia, Joint stiffness, Hyperlordosis, Narrow ... |
ORPHA:1323 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Brachycephaly, Primary microcephaly... |
OMIM:618828 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Frontal bossing, Micrognathia, Thin calvarium, Short nose, Midface retrusion |
ORPHA:1129 |
Larsen-Like Syndrome |
|
Frontal bossing, Dental malocclusion, Brachycephaly, Absent nasal bridge, Macrocephaly, Malar fla... |
OMIM:608545 |
Tetrasomy 5P |
|
Respiratory distress, Overlapping toe, Short hallux, Micrognathia, Pectus excavatum, Long fingers... |
ORPHA:3309 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Depressed nasal bridge, Brachycephaly, Craniosynostosis |
ORPHA:314575 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Congestive heart failure, Pulmonary arterial hypertension |
OMIM:616045 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Prominent nasal tip, Frontal bossing, Depressed nasal bridge, Abnormal den... |
ORPHA:439822 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo... |
ORPHA:1458 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Brachycephaly, Microcephaly |
ORPHA:320385 |
Xylt1-Cdg |
|
Joint laxity, Pes planus, Joint dislocation, Coxa valga, Flared metaphysis, Cleft palate, Short l... |
ORPHA:370930 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Decreased body weight |
ORPHA:93945 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repeti... |
OMIM:618718 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... |
ORPHA:2658 |
Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Abnormal dental enamel morphology, Microcephaly, Hypoplasia of the maxilla, ... |
ORPHA:1798 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Pterygium, Micromelia, Micrognathia, Elbow disloca... |
ORPHA:93329 |
Gomez-Lopez-Hernandez Syndrome |
|
Turricephaly, Anteverted nares, Craniosynostosis, Brachycephaly, Skull asymmetry, Malar flattenin... |
OMIM:601853 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... |
OMIM:540000 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Depressed nasal bridge, Hypoplasia of the zygomatic bone, Macrocephaly, Malar flattening, Short nose |
ORPHA:2835 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Thin upper lip vermilion, Everted upper lip vermilion, Micrognathia, Deep philtrum, Pierre-Robin ... |
OMIM:618381 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greater sciatic no... |
OMIM:617925 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thin upper lip vermilion, Thoracolumbar scoliosis, Micrognathia, Flexion contracture, Everted low... |
OMIM:616549 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Congestive heart failure |
OMIM:616794 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Inguinal hernia, Prominent nasal bridge, Broad nasal tip, Micrognathia, Microcephaly, Primary mic... |
OMIM:613544 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation, Short palm, Mal... |
ORPHA:93328 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re... |
OMIM:614473 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Pyloric stenosis, Small hand, Cleft palate, Feeding difficulties, Short foot, High ... |
ORPHA:96184 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Aplasia of the ulna, Absen... |
OMIM:142900 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Plagiocephaly, Obesity, Macrocephaly |
OMIM:618725 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Tented upper lip vermilio... |
OMIM:616723 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Brachycephaly, Pl... |
ORPHA:369891 |
Fg Syndrome 5 |
|
Trigonocephaly, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:300581 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Micrognathia, Feeding difficulties in infancy, Malnutrition, Upper airway o... |
OMIM:612776 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft palate, Cleft upper lip |
OMIM:179400 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Downturned corners of mouth, Ever... |
OMIM:615162 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Brachycephaly, Microcephaly |
OMIM:615031 |
Temple Syndrome |
|
Micrognathia, Flexion contracture, Small hand, Cleft palate, Feeding difficulties, Short foot, Hi... |
OMIM:616222 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Relative macrocephaly, Inguinal hernia, Depressed nasal bridge, Sagittal craniosynostosis, Microg... |
ORPHA:459061 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Pectus carinatum, Downturned corners o... |
ORPHA:1507 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Everted lower lip vermilion, Long... |
ORPHA:357175 |
Intellectual Disability, Birk-Barel Type |
|
Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow palate, Incisor ma... |
ORPHA:166108 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Feeding difficulties in infancy, Respiratory insufficiency, Tongue fasciculations, Respiratory di... |
ORPHA:238329 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Wide nose, Flat occiput, Limb joint contracture, Prominent nasal bridge, Failure to thrive, Micro... |
ORPHA:505237 |
Frontonasal Dysplasia 2 |
|
Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridge, Wide nasal r... |
OMIM:613451 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Bowing of the legs, Flared metaphysis, Metaphyseal cupping, Genu varum |
OMIM:619073 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure |
OMIM:608099 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, Widely space... |
OMIM:253220 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Micrognathia, Narrow palate, Femoral bowing, Macroglossia, Short ... |
OMIM:617022 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... |
ORPHA:2502 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, High palate, Barrel-... |
OMIM:226980 |
Choanal Atresia |
|
Respiratory distress, Subglottic stenosis, Craniosynostosis, Upper airway obstruction, Feeding di... |
ORPHA:137914 |
Crouzon Syndrome |
|
Mandibular prognathia, Frontal bossing, Sagittal craniosynostosis, Hypoplasia of the maxilla, Bra... |
OMIM:123500 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Short palm, Joint laxity, Lumbar h... |
OMIM:250250 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Feeding difficulties, Platyspondyly, Th... |
OMIM:619638 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Brachycephaly, ... |
OMIM:619995 |
Even-Plus Syndrome |
|
Bifid nasal tip, Depressed nasal ridge, Brachycephaly, Short nose, Midface retrusion |
OMIM:616854 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Multiple joint contractures, Nasogastric tube feeding in infancy, Metaphyse... |
ORPHA:99646 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Rickets, Tooth abscess, Bowing of the legs |
ORPHA:89937 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:601390 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Respiratory distress, Bilateral single transverse palmar creases, Micromelia, L... |
ORPHA:50810 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Hypoplasia of the maxilla, Flexion contracture, Brachycephaly, Wide nasal bridge, Short nose |
OMIM:218000 |
20P12.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Macrocephaly, Malar flattening |
ORPHA:261295 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Re... |
OMIM:609465 |
Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Brachycephaly, Abnormal shape of the occiput, Malar flattening, Brachyturricepha... |
OMIM:218350 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Arachnodactyly, Micrognathia, Cleft palate, Narrow mouth, Malar flattening |
ORPHA:93946 |
Native American Myopathy |
|
Joint laxity, Micrognathia, Cleft palate, Feeding difficulties, Downturned corners of mouth, Resp... |
ORPHA:168572 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Prominent nasal bridge, Microcephaly, Hypoplasia of the maxilla, Macroce... |
ORPHA:85279 |
Burn-Mckeown Syndrome |
|
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia |
ORPHA:1200 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617820 |
Orofaciodigital Syndrome Xv |
|
Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Midline notch of uppe... |
OMIM:617127 |
Cenani-Lenz Syndrome |
|
Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Foot oligodactyly, Short ... |
ORPHA:3258 |
Cooper-Jabs Syndrome |
|
Frontal bossing, Anteverted nares, Camptodactyly of finger, Congenital diaphragmatic hernia, Brac... |
ORPHA:1488 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Cloverleaf skull, Depressed nasal bridge, Choanal atresia, Hypoplasia of t... |
OMIM:101600 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent... |
ORPHA:178303 |
Mulibrey Nanism |
|
Dental crowding, Single transverse palmar crease, Absent frontal sinuses, Enamel hypoplasia, Hypo... |
OMIM:253250 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Poor suck, Micrognathia |
OMIM:300580 |
Hydrolethalus |
|
Tracheal atresia, Micromelia, Micrognathia, Postaxial hand polydactyly, Submucous cleft hard pala... |
ORPHA:2189 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Frontal bossing, Anteverted nares, Depressed nasal bridge, Delayed eruptio... |
ORPHA:819 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Dolicho... |
OMIM:167730 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Flexion contracture, Brachycephaly, Plagiocephaly, Dolichocephaly |
ORPHA:272 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Deep philtrum, Knee flexion contracture, Microdontia, Prominent crus of helix, Thin lower lip ver... |
OMIM:619194 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Frontal bossing, Inguinal hernia, Prominent nose, Microcephaly, Brachycephaly, Wide nasal bridge,... |
ORPHA:1292 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ... |
OMIM:201000 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Microcephaly, Brachycephaly, Lambdoidal craniosynostosis, Bicoronal synostosis |
OMIM:618736 |
Osteoglosphonic Dysplasia |
|
Abnormal clavicle morphology, Rhizomelia, Craniosynostosis, Micrognathia, Abnormal form of the ve... |
ORPHA:2645 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Hallux valgus, Osteopenia, Micrognathia, Long hallux, Pectus carinatum, Feeding difficulties, Hig... |
OMIM:620194 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Abnormal r... |
OMIM:618917 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Joint dislocation, Genu recurvatum, Single transverse palmar crease, Micrognathia, Fl... |
OMIM:130070 |
Autosomal Recessive Amelia |
|
Micrognathia, Non-midline cleft lip, Orofacial cleft, Amelia involving the upper limbs, Amelia, A... |
ORPHA:1027 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Frontal bossing, Micrognathia, Hypoplasia of the maxilla, Long nose, U... |
OMIM:257850 |
Peho-Like Syndrome |
|
Short nose, Retrognathia, Progressive microcephaly |
OMIM:617507 |
Schilbach-Rott Syndrome |
|
Micrognathia, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger cutaneous syn... |
OMIM:164220 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia... |
OMIM:156400 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Micrognathia, Pectus carinatum, Knee flexion contracture, High palate, Wrist flexion ... |
OMIM:121050 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Depressed nasal bridge, Prominent nasal bridge, Anteverted nares, Microcephaly, Wide nasal bridge... |
OMIM:300260 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Obesity, Malar flattening, Short... |
OMIM:614613 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Single transverse palmar crease, 2-3 toe syndactyly, Feeding difficulti... |
OMIM:613443 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota... |
ORPHA:93260 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th finger, Arachno... |
ORPHA:3342 |
Desanto-Shinawi Syndrome |
|
Bulbous nose, Depressed nasal bridge, Brachycephaly, Midface retrusion |
OMIM:616708 |
Lamb-Shaffer Syndrome |
|
Micrognathia, Feeding difficulties, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, T... |
ORPHA:530983 |
Carey-Fineman-Ziter Syndrome |
|
Laryngeal stenosis, Aplasia/Hypoplasia of the tongue, Micrognathia, Aplasia of the pectoralis maj... |
ORPHA:1358 |
Non-Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin |
ORPHA:141179 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Long toe, Pes planus, Sandal gap, Malar flattening, Long fingers, Dyspnea, Limitation of joint mo... |
ORPHA:261279 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Abnormalit... |
ORPHA:783 |
Mesomelic Dysplasia, Savarirayan Type |
|
Delayed closure of the anterior fontanelle, Abnormal foot morphology, Abnormal thorax morphology,... |
OMIM:605274 |
Fetal Valproate Spectrum Disorder |
|
Omphalocele, Short nose, Depressed nasal ridge |
ORPHA:1906 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Frontal bossing, Inguinal hernia, Anteverted nares, Lipodystrophy, Microcephaly, Carious teeth, M... |
OMIM:219200 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Posta... |
OMIM:615948 |
Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Difficulty wal... |
OMIM:617695 |
Distal Duplication 18Q |
|
Anteverted nares, Prominent nasal bridge, Choanal atresia, Micrognathia, Carious teeth, Camptodac... |
ORPHA:1716 |
Familial Dyskinesia And Facial Myokymia |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:324588 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... |
ORPHA:85451 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Micrognathia, Tapered finger, Cleft palate, Short distal phala... |
OMIM:181180 |
6Q25 Microdeletion Syndrome |
|
Camptodactyly of finger, Micrognathia, Microcephaly, Wide nasal bridge, Plagiocephaly, Malar flat... |
ORPHA:251056 |
Chromosome 1P35 Deletion Syndrome |
|
Thin upper lip vermilion, Micrognathia, Cough, Increased femoral anteversion, Feeding difficultie... |
OMIM:617930 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Micrognathia, Short dist... |
OMIM:620073 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms |
OMIM:615541 |
Lowry-Maclean Syndrome |
|
Short nasal bridge, Inguinal hernia, Choanal atresia, Delayed eruption of primary teeth, Microgna... |
ORPHA:2409 |
Desminopathy |
|
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... |
ORPHA:98909 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Apnea, Episodic tachypnea, Hamartoma of tongue, Micrognathia, ... |
ORPHA:2754 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ... |
OMIM:303600 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pes planus, Scapular winging, Micrognathia, Pectus excavatum, Submucous cleft hard palate, Unilat... |
OMIM:619122 |
Maternal Uniparental Disomy Of Chromosome X |
|
Ambiguous genitalia, Azoospermia, Congestive heart failure, Gonadal tissue inappropriate for exte... |
ORPHA:261519 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Missing ribs, Micrognathia, Abnormal rib morphology, Tracheoesophageal f... |
ORPHA:1834 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Micrognathia, Multiple joint dislocation, Pectus carinatum, Knee dislocation, Shoulde... |
OMIM:245600 |
Non-Distal Duplication 13Q |
|
Microcephaly, Micrognathia, Hernia, Trigonocephaly, Short nose |
ORPHA:1702 |
Edinburgh Malformation Syndrome |
|
Frontal bossing, Anteverted nares, Choanal atresia, Micrognathia, Short nose, Failure to thrive |
ORPHA:1895 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Mandibular prognathia, Pes planus, Single transverse palmar crease, Joint hypermobility, Tapered ... |
OMIM:617804 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Depressed nasal bridge, Microcephaly, Micrognathia, Brachycephaly, Retrognathia |
OMIM:618142 |
Lig4 Syndrome |
|
Small for gestational age, Microcephaly, Prominent nose, Brachycephaly, Wide nasal bridge, Failur... |
OMIM:606593 |
Hypomandibular Faciocranial Dysostosis |
|
Anteverted nares, Craniosynostosis, Brachycephaly, Choanal stenosis, Trigonocephaly, Short nose, ... |
ORPHA:1790 |
Al Kaissi Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Microcephaly, Decreased head circumference, Brachycephal... |
OMIM:617694 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose |
OMIM:125700 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Abnormal dental morphology, Camptodactyly of finger, Micromelia, Malabsorption, Osteo... |
ORPHA:2176 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Abnormal pel... |
ORPHA:1133 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Underdeveloped nasal alae, Micrognathia, Microcephaly, Depressed nasal ridge, Wide nasal bridge, ... |
ORPHA:77300 |
Frontofacionasal Dysplasia |
|
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, Brachycephaly, D... |
ORPHA:1791 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Brachycepha... |
ORPHA:228390 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Macrocephaly, Advanced eruption of teeth, S... |
OMIM:614753 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Feeding difficulties in infancy, Narrow palm, Small hand, Short foot, Abnormal ulnar metaphysis m... |
ORPHA:177910 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Short nose, Microcephaly, Camptodactyly of finger, Micrognathia |
ORPHA:1495 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge, Microcephaly |
OMIM:200130 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kypho... |
OMIM:616294 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... |
OMIM:609945 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Cryptorch... |
OMIM:610198 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Micrognathia, Bilateral cleft lip and palate, Clinodactyly of the 5th fin... |
ORPHA:2001 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:618234 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Cleft upper ... |
OMIM:312150 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Failure to thrive, Broad nasal tip, Overweight, Recurrent upper respirator... |
ORPHA:391372 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia... |
OMIM:192445 |
Frontometaphyseal Dysplasia |
|
Subglottic stenosis, Single transverse palmar crease, Limited elbow movement, Micrognathia, Metap... |
ORPHA:1826 |
Schwartz-Jampel Syndrome |
|
Apnea, Micromelia, Micrognathia, Feeding difficulties in infancy, Coxa vara, Pectus carinatum, Hi... |
ORPHA:800 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Pectus carinat... |
ORPHA:3079 |
8Q12 Microduplication Syndrome |
|
Brachycephaly, Wide nasal bridge |
ORPHA:228399 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Coxoauricular Syndrome |
|
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... |
ORPHA:1508 |
Muenke Syndrome |
|
Brachycephaly, Plagiocephaly, Macrocephaly, Malar flattening, Coronal craniosynostosis |
ORPHA:53271 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Brachycephaly, Craniosynostosis |
OMIM:614416 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Hypopla... |
OMIM:615349 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hypoplastic ischia, Micrognathia, Pectus carinatum, Knee flexion contracture, Oligodontia, High p... |
OMIM:210730 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Apnea, Micrognathia, Hypoplastic ilia, Patellar aplas... |
ORPHA:85201 |
Epiphyseal Dysplasia, Baumann Type |
|
Carpal bone aplasia, Epiphyseal dysplasia, Joint laxity, Pes planus, Hypoplasia of the femoral he... |
OMIM:610797 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Ulnar bowing, Humeroradi... |
OMIM:201750 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Frontal bossing, Microcephaly, Broad nasal tip, Brachycephaly, Hernia |
ORPHA:3306 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate... |
ORPHA:2753 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Pectus excavatum, Metaphyseal widening, Flexion contracture, Clubbing, Recu... |
OMIM:617303 |
Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Accessory oral frenulum, Micrognathia, Wide anterior fontanel, S... |
OMIM:619339 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Micrognathia, Flexion contracture, Talipes calcaneovalgus, Knee flex... |
OMIM:265000 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Neonatal respiratory distress, Tracheomalacia, Micrognathia, Kyphosis, Posterio... |
ORPHA:1393 |
Hypomandibular Faciocranial Dysostosis |
|
Micrognathia, Hypoplasia of the maxilla, Choanal stenosis, Malar flattening, Coronal craniosynost... |
OMIM:241310 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Meta... |
OMIM:182212 |
Zimmermann-Laband Syndrome |
|
Hallux valgus, Pes planus, Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft palate... |
ORPHA:3473 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Broad hallux, Deviation of the hallux, Accessory oral frenulum, Hamartoma of t... |
ORPHA:434179 |
Frontonasal Dysplasia 3 |
|
Brachycephaly, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:613456 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Short nose, Depressed nasal bridge, Progressive microcephaly |
ORPHA:438178 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose, Microcephaly, Micrognathia |
ORPHA:2598 |
Oculomaxillofacial Dysostosis |
|
Brachydactyly, Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormali... |
ORPHA:1794 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o... |
OMIM:616007 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo... |
ORPHA:157215 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod... |
OMIM:608670 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress, Limitation of joint mobility |
ORPHA:2680 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Osteopenia, Joint laxity, Respiratory distress, Pyloric stenosis, Ga... |
ORPHA:363705 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Plagiocephaly, Macrocephaly |
ORPHA:459074 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Single tran... |
ORPHA:508488 |
Raine Syndrome |
|
Mandibular prognathia, Micromelia, Micrognathia, High palate, Neonatal death, Microdontia, Long h... |
OMIM:259775 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... |
OMIM:605282 |
Meckel Syndrome, Type 8 |
|
Cleft upper lip, Abdominal distention, Cleft palate, Polydactyly, Narrow chest, Talipes equinovarus |
OMIM:613885 |
Marshall Syndrome |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxill... |
ORPHA:560 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, Kyphosis, Recurrent pneumonia, 2-3 t... |
OMIM:616449 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Malar flattening, Brachycephaly, Macrocephaly |
OMIM:109120 |
Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... |
ORPHA:75566 |
Becker Nevus Syndrome |
|
Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi... |
ORPHA:64755 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte... |
OMIM:617201 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Frontal bossing, Short nose, Camptodactyly of finger, Micrognathia |
ORPHA:2547 |
Gorlin Syndrome |
|
Mandibular prognathia, Frontal bossing, Carious teeth, Brachycephaly, Wide nasal bridge, Abnormal... |
ORPHA:377 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Osteopenia, Pes planus, Macrodontia, Thoracolumbar kyphoscoliosis, Proxima... |
OMIM:212066 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... |
OMIM:255160 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... |
OMIM:603543 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:615546 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Trismus, Abnormal foot morphology, Submucous cleft hard palate... |
OMIM:609166 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in ... |
ORPHA:177907 |
Enlarged Parietal Foramina |
|
Craniosynostosis, Cleft lip, Cleft palate, Vomiting, Short clavicles, Broad thumb |
ORPHA:60015 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Downturned corners of mouth, Advanced eruption of teeth, Prominence of the zygomatic bone, Finger... |
ORPHA:2215 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ... |
ORPHA:464738 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Diastema, Pectus excavatum, Hypopl... |
OMIM:300534 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Sandal gap, High, narrow palate, Submucous cleft ... |
OMIM:612863 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Inguinal hernia, Microcephaly, Large for gestational age, Brachycephaly, Plagiocepha... |
ORPHA:261652 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Pectus carinatum, Downturned corners of mouth, Knee flexion contracture, Clinodactyly of the 5th ... |
ORPHA:488642 |
Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Apnea, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High pala... |
OMIM:300373 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, G... |
ORPHA:275864 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Brachycephaly, Wide nasal bridge, Increased body weight, Malar flattening,... |
OMIM:182290 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:206546 |
Acrofacial Dysostosis, Cincinnati Type |
|
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Decreased body weight, Re... |
OMIM:616462 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Cleft soft palate, Tracheal stenosis, Pierre-Robin sequence, Clinodacty... |
OMIM:620183 |
Shprintzen-Goldberg Syndrome |
|
Osteopenia, Apnea, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal form of... |
ORPHA:2462 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Obesity, Macrocephaly |
ORPHA:397973 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi... |
OMIM:618150 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Hyperlordosis, Long fingers, Respiratory insufficiency, High p... |
ORPHA:169186 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Single transverse palmar crease, Supernumerary tooth, Submucous cleft hard palate, Thick lower li... |
OMIM:617412 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig... |
ORPHA:235 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Missing ribs, Micrognathia, Abnormal rib morphology, Orofacial cle... |
ORPHA:3301 |
Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Sclerotic scapulae, Broad clavicles, Malar flattening, 2-3 fin... |
OMIM:269500 |
Craniolenticulosutural Dysplasia |
|
Osteopenia, High palate, Narrow chest, Gastroesophageal reflux, Bifid uvula, Joint laxity, Wide a... |
OMIM:607812 |
Baker-Gordon Syndrome |
|
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:618218 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Micrognathia, High, narrow palate, Supernumerary tooth, Small hand, Abnormal f... |
ORPHA:1787 |
Marbach-Rustad Progeroid Syndrome |
|
Femur fracture, Delayed eruption of primary teeth, Micrognathia, Poor appetite, Reduced bone mine... |
OMIM:619322 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Apnea, Micrognathia, Ankylosis, Dental malocclusion, Cleft palate, Mandibular co... |
OMIM:602483 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Gracile Bone Dysplasia |
|
Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, ... |
OMIM:602361 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Secondary microcephaly, Trigonocephaly, Malar flattening... |
ORPHA:79113 |
Catel-Manzke Syndrome |
|
Joint dislocation, Single transverse palmar crease, Micrognathia, Pectus carinatum, Glossoptosis,... |
OMIM:616145 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Mandibular prognathia, Death in infancy, Thoracic scoliosis, Respiratory distress, Gastrostomy tu... |
OMIM:620278 |
Carey-Fineman-Ziter Syndrome 1 |
|
Tapered finger, Micrognathia, Trismus, Pierre-Robin sequence, Flexion contracture, Bowel irritabi... |
OMIM:254940 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose |
OMIM:137550 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Wormian bones, Dental crowding, Micrognathia, Flexion contracture, Hypo... |
OMIM:608612 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose, Midface retrusion |
OMIM:618618 |
Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
Aorto-Ventricular Tunnel |
|
Congestive heart failure, Heart murmur |
ORPHA:3400 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee... |
OMIM:151050 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Patellar hypoplasia, High palate, Vomiting, Microdontia, Short pha... |
ORPHA:221016 |
Acrootoocular Syndrome |
|
Decreased palmar creases, Abnormal finger flexion crease, Micrognathia, High, narrow palate, Anod... |
ORPHA:2980 |
Rapidly Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin |
ORPHA:141184 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Non-midline cle... |
ORPHA:246 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placemen... |
ORPHA:435638 |
Stickler Syndrome |
|
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, Oste... |
ORPHA:828 |
Facial Paresis, Hereditary Congenital, 3 |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Short nose, Midface retrusion |
OMIM:614744 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Prominent nasal bridge, Camptodactyly of finger, Underdeveloped nasal alae, Micrognathia, Microce... |
ORPHA:2083 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Feeding difficulties, Bifid uvula, Absent thumb |
OMIM:619239 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Inappropriate behavior, Gait disturbance, Disinhibition, Abnor... |
OMIM:600795 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Wide nose, Microcephaly, Hypoplasia of the maxilla, Recurrent upper respirato... |
ORPHA:2399 |
Seckel Syndrome 2 |
|
Clinodactyly of the 5th finger, Microdontia, Microglossia, Micrognathia |
OMIM:606744 |
Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Thick lower lip ... |
OMIM:613804 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, High palate, Short palm, Shor... |
OMIM:249420 |
Fryns-Smeets-Thiry Syndrome |
|
Arachnodactyly, Micrognathia, Thick lower lip vermilion, Patellar aplasia, Hip dislocation, Wide ... |
ORPHA:2058 |
Harrod Syndrome |
|
Arachnodactyly, Kyphosis, Dental malocclusion, Abnormal shoulder morphology, Joint hyperflexibili... |
ORPHA:2115 |
Nail-Patella Syndrome |
|
Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, R... |
ORPHA:2614 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac... |
ORPHA:536471 |
Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Gastroesoph... |
OMIM:616580 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Drumstick terminal phalanges, Thin ve... |
OMIM:612938 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow chest, Short p... |
OMIM:250220 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Congestive heart failure, Arrhythmia |
ORPHA:157973 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal clavicle morphology, Abnormal dental morphology, Abnormal dental enamel morphology, Tars... |
ORPHA:85199 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Rocker bottom foot, Micrognathia, Flexion contracture, Wide mouth, Death in childhood, Camptodact... |
OMIM:604273 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Apnea, Single transverse palmar crease, Micrognathia, Metatarsus adductus, Cleft palate, Death in... |
OMIM:214110 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Mandibular prognathia, Frontal bossing, Brachycephaly |
OMIM:615828 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Osteopenia, Thoracic scoliosis, Pes planus, Micrognathia, Osteoarthritis, Squared ... |
OMIM:618000 |
Buratti-Harel Syndrome |
|
Broad hallux, Velopharyngeal insufficiency, Submucous cleft hard palate, Recurrent pneumonia, Hig... |
OMIM:619314 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Natal tooth, Overlapping toe, Craniosynostosis, Feeding difficulties in inf... |
OMIM:123790 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Micrognathia, Unilateral radial aplasia, Feeding difficulties in infancy, Aplasi... |
ORPHA:476126 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary arterial hyp... |
ORPHA:2519 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Osteopenia, Subglottic stenosis, Metaphyseal widening, Coxa vara, Thoracic... |
OMIM:271510 |
Occipital Horn Syndrome |
|
Persistent open anterior fontanelle, Pectus carinatum, High palate, Narrow chest, Broad ribs, Joi... |
OMIM:304150 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Nasogastric tube feedin... |
ORPHA:254864 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Hypoplasia of the maxilla, Anteverted nares, Biparietal narrowing |
ORPHA:228396 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Frontal bossing, Depressed nasal bridge, Bulbous nose, Brachycephaly, Plagiocephaly |
OMIM:616789 |
14Q11.2 Microdeletion Syndrome |
|
Short nose, Depressed nasal bridge, Micrognathia |
ORPHA:261120 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lateral clavicle hook, Preaxial ha... |
OMIM:263520 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Conical tooth, Cleft upper lip, S... |
OMIM:263750 |
Congenital Myopathy 8 |
|
Congestive heart failure |
OMIM:618654 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing, Platyspondyly, Scol... |
OMIM:126550 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Neonatal death, Death in infancy, Everted lower lip vermilion, Short finger |
OMIM:242500 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Gastroesophageal re... |
OMIM:134780 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Anteverted nares, Persistence of primary teeth, Microcephaly,... |
OMIM:610253 |
Developmental And Epileptic Encephalopathy 80 |
|
Death in infancy, Tented upper lip vermilion, Tapered finger, Protruding tongue, Micrognathia, Fe... |
OMIM:618580 |
Doors Syndrome |
|
Respiratory distress, Short lingual frenulum, Abnormal finger morphology, Hemivertebrae, Downturn... |
ORPHA:79500 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, C... |
ORPHA:2769 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Flat occiput, Anteverted nares, Femoral hernia, Microcephaly, Brachycephaly, Obe... |
ORPHA:96147 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia, Abnormality of the dentition |
OMIM:193100 |
Codas Syndrome |
|
Congenital hip dislocation, Proximal placement of thumb, Generalized joint laxity, Gastroesophage... |
OMIM:600373 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Feeding difficulties in infancy, Deep philt... |
ORPHA:534 |
20Q11.2 Microduplication Syndrome |
|
Inguinal hernia, Depressed nasal bridge, Anteverted nares, Trigonocephaly, Microcephaly, Wide nas... |
ORPHA:363659 |
Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Micromelia |
OMIM:273680 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact... |
OMIM:174300 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Deep palmar crease, Short philtrum, Retrognathia, Smooth philtrum, Adducted thumb |
ORPHA:293725 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Absent Achilles refle... |
OMIM:620011 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Brachycephaly, Choanal stenosis, Short... |
OMIM:619859 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:91130 |
Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Microcephaly, Bulbous nose, Brachycephaly, Plagiocephaly, Retrognathia, Mi... |
OMIM:618644 |
Mucopolysaccharidosis, Type X |
|
Spatulate ribs, Broad clavicles, Diastema, Open bite, Hyperlordosis, Genu valgum, Hip dysplasia, ... |
OMIM:619698 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Micrognathia, Obesity, Wide nasal bridge, Plagiocephaly, Macrocephaly |
OMIM:618821 |
Humeroradial Synostosis |
|
Brachycephaly, Wide nasal bridge |
OMIM:236400 |
Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Straight clavicles, Short clavicles, Multiple impacted teeth,... |
OMIM:113300 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t... |
ORPHA:2750 |
Monosomy 18P |
|
Microcephaly, Carious teeth, Micrognathia, Brachycephaly, Wide nasal bridge |
ORPHA:1598 |
Myopathy, Myofibrillar, 7 |
|
Tongue atrophy, Multiple joint contractures, Limited hip extension, Shoulder flexion contracture,... |
OMIM:617114 |
Synaptic Congenital Myasthenic Syndromes |
|
Mandibular prognathia, Abnormality of the knee, Scapular winging, Respiratory distress, Hypoventi... |
ORPHA:98915 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi... |
OMIM:210710 |
Marden-Walker Syndrome |
|
Arachnodactyly, Micrognathia, High, narrow palate, Narrow mouth, Pyloric stenosis, Wide anterior ... |
OMIM:248700 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Short femur, Dental crowding, Ta... |
OMIM:300990 |
Larsen Syndrome |
|
Finger syndactyly, Craniosynostosis, Large joint dislocations, Accessory carpal bones, Cleft pala... |
ORPHA:503 |
Keipert Syndrome |
|
Hypoplasia of the maxilla, Depressed nasal bridge, Prominent nasal bridge, Macrocephaly |
ORPHA:2662 |
Stevenson-Carey Syndrome |
|
Anteverted nares, Underdeveloped nasal alae, Brachycephaly, Camptodactyly, Prominent nasal tip, J... |
OMIM:611961 |
Hemochromatosis, Type 1 |
|
Hypogonadotropic hypogonadism, Congestive heart failure, Telangiectasia, Azoospermia, Cardiomyopa... |
OMIM:235200 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615282 |
Macrocephaly/Autism Syndrome |
|
Frontal bossing, Depressed nasal bridge, Large for gestational age, Obesity, Biparietal narrowing... |
OMIM:605309 |
Esophageal Atresia |
|
Respiratory distress, Subglottic stenosis, Feeding difficulties in infancy, Gastrointestinal dysm... |
ORPHA:1199 |
Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate, Micrognathia, Limitation of joint mobility, Osteoporosis, De... |
ORPHA:99742 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Kyphoscoliosis, Upper limb amyotrophy, K... |
ORPHA:496689 |
Gorlin-Chaudhry-Moss Syndrome |
|
Hypoplasia of the maxilla, Brachycephaly, Coronal craniosynostosis, Umbilical hernia, Aplasia/Hyp... |
ORPHA:2095 |
Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Tricuspid regurgitation |
OMIM:314400 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Rectal atr... |
OMIM:613390 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Recurrent fractures, Tracheomalacia, Abnormality of the dentition, Micrognathia, Hig... |
ORPHA:2108 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Short mandibular rami |
OMIM:141300 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Brachycephaly |
OMIM:619972 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Abnormal pinna morphology, Ataxia, Gait disturbance, Inappropriate laughter, Thick... |
OMIM:614104 |
Baraitser-Winter Syndrome 1 |
|
Failure to thrive, Anteverted nares, Microcephaly, Wide nasal bridge, Trigonocephaly, Short nose,... |
OMIM:243310 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Micrognathia |
OMIM:601809 |
Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Prominent metopic ridge, Micrognathia, Lo... |
OMIM:617746 |
Caudal Regression Syndrome |
|
Bowel incontinence, Missing ribs, Joint stiffness, Abnormal iliac wing morphology, Aplasia/Hypopl... |
ORPHA:3027 |
Lig4 Syndrome |
|
Micrognathia, Microcephaly, Brachycephaly, Wide nasal bridge, Biparietal narrowing, Convex nasal ... |
ORPHA:99812 |
Laurence-Moon Syndrome |
|
Brachycephaly, Obesity |
ORPHA:2377 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Arachnodactyly, Single transverse palmar crease, Kyphoscoliosis, Micrognathia, Pec... |
OMIM:618348 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal ti... |
ORPHA:666 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Micrognathia, Patellar aplasia, Abnormal rib morphology, Limitation of j... |
ORPHA:96061 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Plagiocephaly, Brachycephaly, Dolichocephaly |
OMIM:615433 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Thin upper lip vermilion, Respiratory distress, Micrognathia, Deep philtrum, Dental m... |
ORPHA:329178 |
Hurler Syndrome |
|
Hypoplasia of the femoral head, Coxa valga, Joint stiffness, Hypoplasia of the odontoid process, ... |
OMIM:607014 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narrow palate, ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narrow palate, ... |
ORPHA:352665 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Short nose, Cachexia |
ORPHA:1389 |
Cardioacrofacial Dysplasia 1 |
|
Hypoplasia of the maxilla, Overhanging nasal tip, Midface retrusion |
OMIM:619142 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d... |
ORPHA:2907 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Anteverted nares, Microcephaly, Achilles tendon contracture, ... |
OMIM:301041 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Micrognathia, Feeding difficulties, Thin vermilion border, Short philtrum |
ORPHA:261304 |
C Syndrome |
|
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Accessory oral ... |
OMIM:211750 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue atrophy, Hammertoe, Talipes equinovarus, Tongue fasciculations, Scoliosis, Pes cavus |
OMIM:601596 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Concave nasal ridge, Malar flattening,... |
OMIM:613038 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Congestive heart failure, ... |
ORPHA:3092 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Feeding difficulties in infancy, Respiratory insuffi... |
OMIM:605809 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Plantar crease between first and second toes, Dental crowding, Single trans... |
OMIM:180849 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Anorexia, Tapered finger, Malabsorption, Abdominal pain, Diarrhea, Hypogeus... |
ORPHA:2930 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Intestinal... |
OMIM:300963 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Gait ataxia, Impaired tactile sensation, Large fleshy ears, Low-set ears, Overfolded heli... |
OMIM:619092 |
Acrofacial Dysostosis 1, Nager Type |
|
Subglottic stenosis, Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foo... |
OMIM:154400 |
Restrictive Dermopathy 1 |
|
Natal tooth, Limb joint contracture, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Thin clavi... |
OMIM:275210 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Cranioectodermal Dysplasia 1 |
|
Single transverse palmar crease, High, narrow palate, High palate, Widely spaced teeth, Narrow ch... |
OMIM:218330 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia, Micrognathia, Aglossia, Cleft palate, Narrow mouth, Mandibu... |
OMIM:202650 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Bradycardia |
OMIM:619048 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... |
ORPHA:2491 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Thoracic scoliosis, Apnea, Chronic constipation, High pala... |
ORPHA:79330 |
Toluene Embryopathy |
|
Microcephaly, Micrognathia, Hypoplasia of the zygomatic bone, Biparietal narrowing, Short nose |
ORPHA:1920 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Micrognathia, Joint stiffne... |
ORPHA:1300 |
Warburg Micro Syndrome 3 |
|
Microcephaly, Micrognathia, Flexion contracture, Brachycephaly, Secondary microcephaly, Short nose |
OMIM:614222 |
Smith-Kingsmore Syndrome |
|
Frontal bossing, Depressed nasal bridge, Large for gestational age, Macrocephaly, Umbilical herni... |
OMIM:616638 |
Diffuse Cutaneous Systemic Sclerosis |
|
Nausea and vomiting, Malabsorption, Carious teeth, Dyspnea, Flexion contracture, Xerostomia, Oste... |
ORPHA:220393 |
Desmosterolosis |
|
Increased bone mineral density, Intestinal malrotation, Micromelia, Micrognathia, Metatarsus addu... |
ORPHA:35107 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Median cleft lip, Talipes, Absent thumb, Aplasia/Hypoplasia of... |
ORPHA:1234 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ... |
ORPHA:1071 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Microgna... |
OMIM:619879 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... |
OMIM:602080 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa... |
OMIM:258865 |
Kagami-Ogata Syndrome |
|
Long clavicles, Kyphoscoliosis, Coxa valga, Micrognathia, Long fingers, Hypoplasia of the maxilla... |
OMIM:608149 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Natal tooth, Frontal bossing, Depressed nasal bridge, Anteverted nares, Sagittal cra... |
OMIM:145420 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Micrognathia, 2-3 toe syndactyly, Cleft palate, Small thenar eminence, Short 5th... |
OMIM:239800 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Frontal bossing, Thick nasal alae, Micrognathia, Short nose, Retrognathia |
ORPHA:163961 |
Pfeiffer Syndrome Type 1 |
|
Depressed nasal bridge, Brachycephaly, Short nose, Midface retrusion, Bicoronal synostosis |
ORPHA:93258 |
Frontofacionasal Dysplasia |
|
Frontal cutaneous lipoma, Underdeveloped nasal alae, Brachycephaly, Bifid nose, Midline defect of... |
OMIM:229400 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Feeding difficulties, Decreased intestinal t... |
OMIM:620045 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal reproductive system morphology, Congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:70472 |
Christianson Syndrome |
|
Death in early adulthood, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Macroti... |
ORPHA:85278 |
Diamond-Blackfan Anemia 6 |
|
Cleft upper lip, Micrognathia, Short thumb, Cleft palate, Triphalangeal thumb, Tracheomalacia, Re... |
OMIM:612561 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Congest... |
ORPHA:439 |
Miller-Dieker Syndrome |
|
Omphalocele, Short nose, Anteverted nares |
ORPHA:531 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Selective tooth agenesis, Nasogastric tube feeding in infancy, Reduced bone mineral d... |
ORPHA:2909 |
Marden-Walker Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Talipes, Micrognathia, Metatarsus adductus, Pyloric sten... |
ORPHA:2461 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
Seckel Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Craniosynostosis, Micrognathia, Cone-shaped epiphy... |
ORPHA:808 |
Trisomy 9P |
|
Abnormal nasal morphology, Microcephaly, Brachycephaly, Impacted tooth |
ORPHA:236 |
Distal Duplication 17Q |
|
Hallux valgus, Thin upper lip vermilion, Joint laxity, Rhizomelia, Overlapping toe, Arachnodactyl... |
ORPHA:3379 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Short nose, Depressed nasal bridge, Craniosynostosis, Macrocephaly |
OMIM:614732 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Multiple pterygia, Micrognathia, Orofacial cleft, Symphalangism affecting the phalanges of the ha... |
ORPHA:2990 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Frontal bossing, Turricephaly, Microcephaly, Wide nasal... |
OMIM:613603 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Flat occiput, Depressed nasal bridge... |
OMIM:614188 |
Axenfeld-Rieger Syndrome |
|
Hypoplasia of the maxilla, Depressed nasal bridge, Wide nasal bridge, Midface retrusion |
ORPHA:782 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Death in infancy, Vertebral fusion, Block vertebrae, Kyphoscoliosis, Abdominal distention, Rib fu... |
OMIM:277300 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Nasogastric tube feeding in infancy, Gastrointestinal dysmotility, Downturned corners... |
ORPHA:453499 |
Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici... |
ORPHA:99772 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Frontal bossing, Anteverted nares, Cachexia, Short nose |
ORPHA:884 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Wormian bones, Dental crowding, Down-sloping shoulders, Coxa valga, Micrognathia, Joi... |
OMIM:248370 |
Tetraploidy |
|
Radial club hand, Short philtrum, Cleft palate, Micrognathia |
ORPHA:3305 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Congestive heart failure, Cardiac arrest |
ORPHA:49827 |
Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Coxa valga, Thoracolumbar kyphosis, Joint stiffness, Gingival overgrowth, Dysp... |
OMIM:230600 |
Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Hamamy Syndrome |
|
Osteopenia, Micrognathia, High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, Tape... |
OMIM:611174 |
Warburg Micro Syndrome 2 |
|
Prominent nasal bridge, Microcephaly, Flexion contracture, Brachycephaly, Secondary microcephaly,... |
OMIM:614225 |
Foxg1 Syndrome |
|
Inability to walk, Choreoathetosis, Difficulty walking, Bruxism, Abnormal repetitive mannerisms, ... |
ORPHA:561854 |
Fetal Alcohol Syndrome |
|
Anteverted nares, Congenital diaphragmatic hernia, Micrognathia, Microcephaly, Biparietal narrowi... |
ORPHA:1915 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
46,Xy Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... |
ORPHA:325345 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Microcephaly, Anosmia, Short nose, Short nasal septum |
OMIM:302950 |
Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, Pectus carinatum,... |
OMIM:619472 |
Autosomal Dominant Robinow Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Hemivertebrae, Coxa va... |
ORPHA:3107 |
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Arachnodactyly, Micrognathia, Malar prominence, Cone-shaped epiphysis, Joint hyperflexibility, Pa... |
ORPHA:2824 |
15Q Overgrowth Syndrome |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... |
ORPHA:314585 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Frontal bossing, Prominent nose, Micrognathia, Microcephaly, Bulbous nose,... |
OMIM:156200 |
Familial Visceral Myopathy |
|
Aganglionic megacolon, Arachnodactyly, Camptodactyly of finger, Micrognathia, Joint stiffness, Ab... |
ORPHA:2604 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S... |
OMIM:615503 |
Hydrolethalus Syndrome 2 |
|
Micrognathia, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Preaxial foot... |
OMIM:614120 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Patellar hypoplasia, Vomiting, Microdontia, Short phalanx of finger, Genu varum, Shor... |
ORPHA:221008 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty... |
ORPHA:97360 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Congestive heart failure, Arrhythmia |
ORPHA:85446 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... |
OMIM:115197 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Narrow nasal bridge, Frontal bossing, Prominent nasal bridge, Micrognathia, Hypoplasia of the max... |
OMIM:309520 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Respiratory distress, Downturned corners of mouth, Long thorax, Short phil... |
OMIM:616268 |
Cog1-Cdg |
|
Osteopenia, Thin upper lip vermilion, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosi... |
ORPHA:263508 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Spontaneous neonatal pneumothorax, Frontal open bite, Micrognathia, Del... |
OMIM:225410 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Pectus carinatum, Femoral bowing, Inc... |
OMIM:609220 |
Angelman Syndrome |
|
Mandibular prognathia, Flat occiput, Hypoplasia of the maxilla, Brachycephaly, Obesity, Secondary... |
OMIM:105830 |
Congenital Pulmonary Lymphangiectasia |
|
Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, Pulmonic sten... |
ORPHA:2414 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Pes planus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, S... |
OMIM:620072 |
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Plagiocephaly, Brachycephaly, Microcephaly |
OMIM:618862 |
Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Branchial fistula, Arachnodactyl... |
ORPHA:261330 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Frontal bossing, Inguinal hernia, Narrow nasal ridge, Brachycephaly, Umbilical hernia, Failure to... |
OMIM:219150 |
Loeys-Dietz Syndrome 6 |
|
Pes planus, Arachnodactyly, Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Inte... |
OMIM:619656 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:1349 |
Frontorhiny |
|
Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sin... |
ORPHA:391474 |
Farber Disease |
|
Respiratory distress, Abnormality of the knee, Abnormality of the hand, Abnormal foot morphology,... |
ORPHA:333 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Right ventricular f... |
ORPHA:99095 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... |
ORPHA:99103 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Bifid uvula, Joint laxity, Ar... |
ORPHA:284984 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Single transverse palmar crease, Micrognathia, High, narrow palate, High palate, Death in childho... |
OMIM:214100 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Femoral bowing, Increased suscept... |
OMIM:166200 |
Hypoglossia-Hypodactylia |
|
Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia |
OMIM:103300 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Scapular winging, Tongue atrophy, Calf muscle hypertrophy, Restrictive ventilatory defect, Should... |
OMIM:158900 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Harel-Yoon Syndrome |
|
Mandibular prognathia, Frontal bossing, Short nose, Micrognathia |
OMIM:617183 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Micrognathia, Cleft lip, Kyphosis, Dental malocclusion, Gingival overgrowth, Cleft pa... |
OMIM:616894 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Brachycephaly, Hernia, Macrocephaly, Short nose, Midface retrusion |
ORPHA:1394 |
Adnp Syndrome |
|
Respiratory distress, Single transverse palmar crease, Oral-pharyngeal dysphagia, Abnormal finger... |
ORPHA:404448 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Convex nasal ridge |
OMIM:156510 |
2Q23.1 Microdeletion Syndrome |
|
Malar flattening, Brachycephaly, Microcephaly |
ORPHA:228402 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Wide nose, Prominent nose, Joint contracture of the hand, Brachyturricephaly, Camptodactyly, Camp... |
OMIM:300280 |
Arthrogryposis Multiplex Congenita 5 |
|
Micrognathia, Flexion contracture, Death in infancy, Neonatal respiratory distress, Restrictive v... |
OMIM:618947 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Prominence of the premaxilla, Inguinal hernia, Anteverted nares, Depressed nasal ridge, Wide nasa... |
ORPHA:2412 |
Mgat2-Cdg |
|
Osteopenia, Respiratory distress, Dental crowding, Gastroparesis, Gastrostomy tube feeding in inf... |
ORPHA:79329 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Small for gestational age, Hypoplasia of the maxilla, Short nose, Failure to thrive, P... |
OMIM:614261 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Feeding difficulties in infanc... |
OMIM:115150 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short phi... |
OMIM:619950 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Equinus calcaneus, Micrognathia, Knee dislocat... |
ORPHA:536532 |
Ohdo Syndrome, X-Linked |
|
Ulnar deviation of the hand, Overlapping toe, Joint hypermobility, Hiatus hernia, Micrognathia, S... |
OMIM:300895 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Wide nose, Anteverted nares, Dorsocervical fat pad, Small for gestational age, Micrognathia, Micr... |
ORPHA:391408 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Microcephaly, Micrognathia, Flexion contracture, Secondary microcephaly, Short nose, F... |
OMIM:615851 |
Geleophysic Dysplasia 3 |
|
Subglottic stenosis, Epiphyseal dysplasia, Pneumonia, Limited elbow movement, Limited wrist movem... |
OMIM:617809 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna... |
OMIM:165590 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Mandibular prognathia, Malar flattening, Brachycephaly, Microcephaly |
OMIM:268850 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Failure to thrive, Depressed nasal bridge, Brachycephaly |
OMIM:612379 |
Loeys-Dietz Syndrome 4 |
|
Joint laxity, Pes planus, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the e... |
OMIM:614816 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Frontal bossing, Micrognathia, Wide nasal bridge, Obesity, Hypoplasia of teeth, Macrocephaly, Sho... |
OMIM:620250 |
Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Broad nasal tip, Brachycephaly, Dimple on nasal tip, Midface retrusion |
ORPHA:1784 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Tented upper lip vermilion, Edema of the dorsum of feet,... |
ORPHA:521426 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Small for gestational age, Short nose, Secondary microcephaly, Primary microcephaly |
ORPHA:289266 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers... |
OMIM:309583 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Feeding difficulties in infancy, Respiratory insufficiency due to muscle we... |
ORPHA:254875 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Apnea, Micrognathia, Asthma, Tachypnea, Pneumothorax, Cleft palate... |
ORPHA:2257 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Depressed nasal bridge, Microcephaly, Recurrent upper respiratory tract infections, Wide nasal br... |
OMIM:612513 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Slender build, Brachycephaly, Macrocephaly, Macrodontia of permanent maxil... |
ORPHA:364028 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Death in infancy, Micrognathia, Abdominal distention, Postaxial hand po... |
OMIM:235255 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Small for gestational age, Choanal atresia, Trigonocephaly, Micrognath... |
OMIM:619148 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Camptodactyly |
OMIM:246560 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Congestive heart f... |
ORPHA:2326 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Anteriorly placed anus, Neonatal death, Distal shortening of limbs, Syndactyly, Me... |
OMIM:146510 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Apnea, Micrognathia, Proximal femoral metaphyseal irregularity, Tachypnea, Early ossification of ... |
ORPHA:397715 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Abnormal repetitive mannerisms, Difficulty walking |
OMIM:617393 |
Warburg Micro Syndrome 4 |
|
Anteverted nares, Prominent nasal bridge, Flexion contracture, Brachycephaly, Secondary microcephaly |
OMIM:615663 |
Atrial Septal Defect, Ostium Primum Type |
|
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... |
ORPHA:99106 |
Desmosterolosis |
|
Relative macrocephaly, Frontal bossing, Hypoplastic nasal bridge, Failure to thrive, Anteverted n... |
OMIM:602398 |
Nephrotic Syndrome, Type 11 |
|
Arachnodactyly, Micrognathia, Cleft lip, Partial duplication of thumb phalanx, Cleft palate, High... |
OMIM:616730 |
Fanconi Renotubular Syndrome 3 |
|
Rickets, Bowing of the legs |
OMIM:615605 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Clubbing, Hamartomatous polyposis,... |
OMIM:175500 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Respiratory distress, Tongue atrophy, Respiratory failure requiring assisted... |
OMIM:211530 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, H... |
OMIM:234100 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Mandibular prognathia, Prominent nasal bridge, Micrognathia, Bulbous nose, Decreased head circumf... |
ORPHA:247262 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Frontal bossing, Depressed nasal bridge, Brachycephaly, Umbilical hernia, Macrocephaly, Malar fla... |
OMIM:612582 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Frontal bossing, Anteverted nares, Depressed nasal bridge, Small for gestation... |
OMIM:616835 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micrognathia, Cleft palate, High palate, P... |
OMIM:616038 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
Ritscher-Schinzel Syndrome 1 |
|
Prominent occiput, Depressed nasal bridge, Brachycephaly, Micrognathia |
OMIM:220210 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphol... |
ORPHA:96263 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Congestive heart failure, Dilated cardiomyopathy |
OMIM:606703 |
Frontometaphyseal Dysplasia 2 |
|
Subglottic stenosis, Congenital hip dislocation, Elbow contracture, Feeding difficulties in infan... |
OMIM:617137 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Aica-Ribosuria Due To Atic Deficiency |
|
Frontal bossing, Brachycephaly, Anteverted nares, Prominent nasal bridge |
OMIM:608688 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Abdominal distention, Diarrhea, Protein-losing enteropathy, Talipes equinovarus... |
OMIM:608104 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Prominent nose, Microcephaly, Scaphocephaly, Cranial asymmetry, Wid... |
OMIM:614886 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Failure to thrive, Anteverted nares, Microg... |
OMIM:613026 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia,... |
ORPHA:1652 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of cani... |
ORPHA:364577 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:601214 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Depressed nasal bridge, Anteverted nares, Large for gestational age, Brachycephaly, Lambdoidal cr... |
OMIM:615398 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Small... |
OMIM:101800 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Microcephaly, Micrognathia, Delayed eruption of permanent teeth, Short nose |
OMIM:619356 |
Meier-Gorlin Syndrome 2 |
|
Joint hypermobility, Micrognathia, Patellar aplasia, Feeding difficulties, Slender long bone, Cam... |
OMIM:613800 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Respiratory distress, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebra... |
OMIM:612852 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Frontal bossing, Hip contracture, Anteverted nares, Prominent nasal bridge, Cachexia, Micrognathi... |
ORPHA:371364 |
Lopes-Maciel-Rodan Syndrome |
|
Unsteady gait, Bruxism, Agitation, Dysphagia, Abnormal repetitive mannerisms |
OMIM:617435 |
Nestor-Guillermo Progeria Syndrome |
|
Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro... |
OMIM:614008 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... |
ORPHA:275766 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:94080 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal thorax morphology, Abnormal respiratory system physiology... |
ORPHA:50251 |
Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, Thoracolumbar scoliosis, Micrognathia, 2-3 fin... |
ORPHA:2437 |
Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Hip contracture, Inguinal hernia, Flexion contracture of finger, Failure t... |
OMIM:193700 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy... |
OMIM:150250 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Pneumonia, Bowing of the legs, Hypoplastic ilia... |
ORPHA:1855 |
19P13.13 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Brachycephaly, Macrocephaly, Dolichocephaly, Malar flat... |
ORPHA:357001 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... |
OMIM:301040 |
Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia |
OMIM:112310 |
Neu-Laxova Syndrome |
|
Osteopenia, Abnormality of the philtrum, Osteomalacia, Micromelia, Micrognathia, Trismus, Submuco... |
ORPHA:2671 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Kyphoscoliosis, Protruding tongue, Abnormal thumb morphology, Contractures... |
ORPHA:324410 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Depressed nasal bridge, Micrognathia, Microcephaly, Plagiocephaly, Distal arthrogryposis, Short n... |
OMIM:619833 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Pyloric stenosis, Wide anterior fontanel, S... |
ORPHA:457279 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, L... |
OMIM:615866 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Feeding diff... |
ORPHA:596 |
Sialuria |
|
Thin upper lip vermilion, Thoracic hypoplasia, 2-3 toe syndactyly, Macroglossia, High palate, Pro... |
OMIM:269921 |
19P13.12 Microdeletion Syndrome |
|
Narrow nasal bridge, Anteverted nares, Craniosynostosis, Microcephaly, Brachycephaly, Obesity, Ar... |
ORPHA:254346 |
Faciocardiomelic Syndrome |
|
Osteopenia, Micrognathia, Cuboid-shaped vertebral bodies, Dental malocclusion, Wide mouth, Slende... |
OMIM:612731 |
Schimke Immuno-Osseous Dysplasia |
|
Wide capital femoral epiphyses, Lumbar hyperlordosis, Ovoid vertebral bodies, Abnormal femoral he... |
ORPHA:1830 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Joint contracture, Kyphoscoliosis |
OMIM:617977 |
Adenylosuccinase Deficiency |
|
Short nose, Anteverted nares, Brachycephaly, Microcephaly |
OMIM:103050 |
Acrofrontofacionasal Dysostosis 2 |
|
Wide nose, Brachycephaly, Microcephaly |
OMIM:239710 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... |
ORPHA:40366 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy, Feeding difficulties, Gastroesophageal reflux, Decreased ... |
OMIM:616974 |
Fraser Syndrome 1 |
|
Subglottic stenosis, Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Laryng... |
OMIM:219000 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Abnormal nasal morphology, Wide nasal bri... |
ORPHA:404440 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Cleft upper lip, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossifi... |
ORPHA:93271 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... |
ORPHA:57777 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod... |
OMIM:609638 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose, Microcephaly |
ORPHA:833 |
Verheij Syndrome |
|
Anteverted nares, Small for gestational age, Broad nasal tip, Microcephaly, Wide nasal bridge, Sh... |
OMIM:615583 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Large for gestational age, Macrocephaly, Cranial asymmetry, Broad nasal tip |
ORPHA:137634 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... |
OMIM:300257 |
Gaucher Disease Type 2 |
|
Respiratory distress, Flexion contracture, Dysphagia, Cough, Abnormal pattern of respiration |
ORPHA:77260 |
Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose |
OMIM:122880 |
Congenital Fiber-Type Disproportion Myopathy |
|
Congenital hip dislocation, Dental crowding, Poor appetite, Micrognathia, Nasogastric tube feedin... |
ORPHA:2020 |
Donnai-Barrow Syndrome |
|
Omphalocele, Depressed nasal bridge, Congenital diaphragmatic hernia, Macrocephaly, Umbilical her... |
ORPHA:2143 |
Dermotrichic Syndrome |
|
Frontal bossing, Short nose, Depressed nasal bridge |
ORPHA:99688 |
Cohen Syndrome |
|
Small for gestational age, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Micro... |
OMIM:216550 |
Intellectual Disability-Strabismus Syndrome |
|
Failure to thrive, Depressed nasal bridge, Narrow nasal ridge, Prominent nose, Micrognathia, Cong... |
ORPHA:363528 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Dental crowding, Poor appetite, Micrognathia, Feeding difficulties in infancy, High, narrow palat... |
ORPHA:96182 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Short nose, Prominent nasal bridge, Wide nasal bridge, Midface retrusion |
ORPHA:401935 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Arthrogry... |
ORPHA:86822 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Short nose |
ORPHA:90653 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Frontal bossing, Short nose, Depressed nasal ridge, Macrocephaly |
OMIM:300863 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hypospadias, Cryptorchidism, Congestive heart failure, Arrhythmia, Hypertrophic cardiomyopathy |
ORPHA:1194 |
Shukla-Vernon Syndrome |
|
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... |
OMIM:301029 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... |
ORPHA:3103 |
Kagami-Ogata Syndrome |
|
Pursed lips, Respiratory failure requiring assisted ventilation, Thoracic hypoplasia, Kyphoscolio... |
ORPHA:254519 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Short nose, Depressed nasal bridge, Microcephaly |
OMIM:616910 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Cloverleaf skull, Depressed na... |
ORPHA:87 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
9P13 Microdeletion Syndrome |
|
Microretrognathia, Anteverted nares, Brachycephaly, Wide nasal bridge, Umbilical hernia |
ORPHA:324313 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Scoliosis |
OMIM:615066 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... |
ORPHA:1422 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Barrel-shaped chest, Short humerus, Bowing of the long bones, Osteopenia, Increased bone mineral ... |
OMIM:239000 |
Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Bulbous nose, Secondary microcephaly, Malar flattening, Short nose, Failure to ... |
OMIM:616420 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Frontal bossing, Failure to thrive in infancy, Prominent nasal bridge, Micro... |
ORPHA:1225 |
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 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Feeding difficulties in infancy, Talipes calcaneovalgu... |
ORPHA:818 |
Cdags Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Brachycephaly, Lambdoidal craniosy... |
OMIM:603116 |
Craniosynostosis 4 |
|
Depressed nasal bridge, Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Ma... |
OMIM:600775 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Long clavicles, Overlapping toe, Arachnodactyly, Single transverse palmar c... |
ORPHA:83617 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Micromelia, Abnormality of the dentit... |
ORPHA:289 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Respiratory distress, Congenital hip dislocation, Abnormal periodontium morphology, H... |
ORPHA:480880 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Depressed nasal bridge, Abnormal den... |
ORPHA:96264 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Familial Atrial Myxoma |
|
Congestive heart failure, Tricuspid regurgitation, Heart murmur |
ORPHA:615 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Microcephaly, Bulbous nose, Short nose |
OMIM:614105 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:619690 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu... |
OMIM:119800 |
Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Downturned corners of mouth, High palate, Widely spaced teeth, Narrow chest, Gas... |
OMIM:618268 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Hypoplasia of the maxi... |
OMIM:608328 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Broad nasal tip, Microcephaly, Wide nasal bridge, Plagiocephaly, Left unicoronal synostosis, Shor... |
OMIM:614749 |
Peho Syndrome |
|
Anteverted nares, Microcephaly, Flexion contracture, Biparietal narrowing, Malar flattening, Shor... |
ORPHA:2836 |
Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Microcephaly, Brachycephaly, ... |
ORPHA:261494 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Death in childhood, Neonatal death, Arthrogryposis multiplex congenita, Adducte... |
OMIM:619334 |
Aica-Ribosiduria |
|
Brachycephaly |
ORPHA:250977 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Micrognathia, Cleft palate, Feeding difficulties, Bifid uvula |
OMIM:606164 |
White-Sutton Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Congenital diaphragmatic hernia, Broad nasal tip, ... |
OMIM:616364 |
8P23.1 Microdeletion Syndrome |
|
Prominent nasal bridge, Congenital diaphragmatic hernia, Micrognathia, Microcephaly, Wide nasal b... |
ORPHA:251071 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... |
ORPHA:1329 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Microcephaly, Short... |
OMIM:617802 |
Hutchinson-Gilford Progeria Syndrome |
|
Congestive heart failure, Angina pectoris, Myocardial infarction |
OMIM:176670 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, High palate, Premature loss of teeth, Dislocate... |
OMIM:102500 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Dental crowding, Single transverse palmar crease, Micrognathia, Ante... |
OMIM:305450 |
Distal Deletion 10Q |
|
Frontal bossing, Prominent nasal bridge, Craniosynostosis, Prominent nose, Micrognathia, Microcep... |
ORPHA:96148 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Micrognathia, Cleft lip, Kyphosis, Cleft palate, Chroni... |
ORPHA:1724 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Chorea, Choreoathetosis, Abnormal repetitive mannerisms |
OMIM:619317 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Lumbar hyperlordosis, Abdominal pain, Dyspnea, Calf muscle hypertrophy, Thi... |
ORPHA:86812 |
Acromelic Frontonasal Dysplasia |
|
Midline central nervous system lipomas, Broad nasal tip, Bifid nasal tip, Brachycephaly, Bifid no... |
ORPHA:1827 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... |
OMIM:613426 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Anteverted nares, Camptodactyly of finger, Hypoplasia... |
ORPHA:915 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Microcephaly, Carious teeth, Overweight, Brachycephaly, Obesity, Secon... |
OMIM:619229 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Broad jaw, Subglottic stenosis, Exaggerated cupid's bow, Tapered finger, Micrognathia, Feeding di... |
OMIM:614501 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Kyphoscoliosis |
OMIM:619099 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Macrocephaly, Advanced eruption of teeth, Short nose, Failure to thrive, ... |
OMIM:617865 |
Pancreatitis, Hereditary |
|
Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency |
OMIM:167800 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Small for gestational age, Microcephaly, Micrognathia, Recurrent upper respiratory tract infectio... |
ORPHA:3078 |
Zttk Syndrome |
|
Hypoplasia of the maxilla, Feeding difficulties in infancy, Flexion contracture, Hemivertebrae, D... |
OMIM:617140 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Protruding tongue, Micrognathia, Neonatal asphyxia, Respiratory insufficiency, ... |
OMIM:608779 |
Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Mandibular prognathia, Abnormality of the vertebral spinous pro... |
ORPHA:1299 |
Babesiosis |
|
Congestive heart failure, Myocardial infarction |
ORPHA:108 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,... |
OMIM:101200 |
Robinow-Sorauf Syndrome |
|
Craniosynostosis, Long nose, Plagiocephaly, Pansynostosis, Malar flattening, Narrow nose |
OMIM:180750 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta |
OMIM:601216 |
Charcot-Marie-Tooth Disease Type 4C |
|
Pes planus, Tongue atrophy, Hypoventilation, Abnormal foot morphology, Respiratory insufficiency,... |
ORPHA:99949 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Congestive heart failure |
ORPHA:3077 |
Distal Deletion 6P |
|
Abnormality of the dentition, Micrognathia, Orofacial cleft, Short foot, Downturned corners of mo... |
ORPHA:96125 |
Chromosome 17P13.1 Deletion Syndrome |
|
Turricephaly, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Microcephaly, Bul... |
OMIM:613776 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Abnormal clavicle morphology, Camptodactyly of finger, Abnorma... |
ORPHA:3138 |
Mccune-Albright Syndrome |
|
Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Dental malocclusion, Abnormal ... |
ORPHA:562 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia |
ORPHA:90037 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Thin upper lip vermilion, Long philtrum |
OMIM:614741 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Distal Duplication 5Q |
|
Prominent nasal bridge, Craniosynostosis, Micrognathia, Carious teeth, Microcephaly, Hernia, Shor... |
ORPHA:96097 |
Myopathy And Diabetes Mellitus |
|
Hyporeflexia of upper limbs, Achilles tendon contracture, Shoulder girdle muscle weakness, Respir... |
ORPHA:2596 |
Fucosidosis |
|
Failure to thrive, Lipoatrophy, Brachycephaly |
ORPHA:349 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Plagiocephaly, Brachycephaly, Craniosynostosis, Microcephaly |
ORPHA:2163 |
Trisomy 20P |
|
Frontal bossing, Inguinal hernia, Anteverted nares, Camptodactyly of finger, Micrognathia, Brachy... |
ORPHA:261318 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Abdominal distention, Rickets, Hepatic failure |
ORPHA:2088 |
Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Micrognathia, Esophageal atresia, Deviation of the 2nd finger, Oro... |
ORPHA:1305 |
Ohdo Syndrome, Sbbys Variant |
|
Thin upper lip vermilion, Micrognathia, Cleft palate, Feeding difficulties, Patellar dislocation,... |
OMIM:603736 |
Birk-Barel Syndrome |
|
Microretrognathia, Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft ... |
OMIM:612292 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... |
OMIM:311200 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Prominent nasal bridge, Broad nasal tip, Micrognathia, Microcephaly, Wide nasal bridge, Plagiocep... |
OMIM:300749 |
Moderate Hemophilia A |
|
Gastrointestinal hemorrhage, Hip contracture, Arthropathy, Cartilage destruction, Limitation of j... |
ORPHA:169805 |
Cardiofaciocutaneous Syndrome |
|
Abnormal morphology of ulna, Pectus excavatum, Feeding difficulties in infancy, Submucous cleft h... |
ORPHA:1340 |
Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Pericarditis |
ORPHA:163596 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Short nose, Anteverted nares, Prominent nasal bridge, Microcephaly |
OMIM:300558 |
Trisomy 12P |
|
Turricephaly, Micrognathia, Wide nasal bridge, Malar flattening, Short nose |
ORPHA:1699 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Microcephaly, Wide nasal bridge, Trigonocephaly, Short nose, Failure to t... |
OMIM:619179 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, Short nos... |
OMIM:614069 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Macrocephaly, Short nose, Anteverted nares, Dolichocephaly |
ORPHA:1185 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Nasogastric tube feeding i... |
ORPHA:221120 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Subglottic stenosis, Micrognathia, Downturned corners of mouth, Glossoptosis, High palate, Gastro... |
ORPHA:444077 |
2P15P16.1 Microdeletion Syndrome |
|
Inguinal hernia, Failure to thrive, Prominent nasal bridge, Camptodactyly of finger, Microcephaly... |
ORPHA:261349 |
Distal Deletion 9P |
|
Wide nasal bridge, Hernia, Trigonocephaly, Short nose, Midface retrusion |
ORPHA:1642 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short nose, Congenital diaphragmatic hernia, Microcephaly |
OMIM:300887 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Short ph... |
OMIM:619127 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Low-set ears, Attention defi... |
ORPHA:352490 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Depressed nasal bridge, Anteverted nares, Micrognathia, Malar flattening, Short nose, ... |
OMIM:242860 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin... |
OMIM:619503 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Rickets, Steatorrhea |
OMIM:607748 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Congenital diaphragmatic hernia, Micrognathia |
OMIM:166300 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Feeding difficulties |
ORPHA:26792 |
Bainbridge-Ropers Syndrome |
|
Failure to thrive, Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Micrognathia... |
OMIM:615485 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Pes cavus, Lumbar hyperlordosis, Sandal gap, Broad hallux, Dental crowd... |
OMIM:616078 |
Renal And Mullerian Duct Hypoplasia |
|
Frontal bossing, Short nose, Micrognathia |
OMIM:266810 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Disinhibition, Dysphagia |
OMIM:612069 |
Holoprosencephaly 7 |
|
Omphalocele, Frontal bossing, Flat occiput, Hypoplasia of the premaxilla, Flat nasal alae, Microc... |
OMIM:610828 |
Halperin-Birk Syndrome |
|
Micrognathia, Flexion contracture, Hip dislocation, Pseudobulbar paralysis, High palate, Thick ve... |
OMIM:618651 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Nasogastric tube feeding in infancy, Widely spaced teeth, Gastroesophageal reflux, Cleft soft pal... |
ORPHA:268261 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Feeding difficulties in infancy, Gastrointestinal dysmotility, Hemiver... |
ORPHA:500150 |
Down Syndrome |
|
Depressed nasal bridge, Depressed nasal ridge, Brachycephaly, Obesity, Umbilical hernia, Short nose |
ORPHA:870 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Everted upper lip vermilion, Apnea, Micrognathia, Hepatic failure, Dysphagi... |
OMIM:608013 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Pes planus, Single transverse palmar crease, Micrognathia,... |
OMIM:223370 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
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Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Protruding ear, Low-set ear... |
OMIM:618342 |
Autism, Susceptibility To, 3 |
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Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
Fetal Akinesia Deformation Sequence 1 |
|
Elbow contracture, Micrognathia, High, narrow palate, Congenital contracture, High palate, Wrist ... |
OMIM:208150 |
Infantile Sialic Acid Storage Disease |
|
Congestive heart failure |
OMIM:269920 |
Acromicric Dysplasia |
|
Bulbous nose, Anteverted nares, Short nose |
ORPHA:969 |
Developmental And Epileptic Encephalopathy 100 |
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Tented upper lip vermilion, Single transverse palmar crease, Protruding tongue, Micrognathia, Tho... |
OMIM:619777 |
Cardiofacioneurodevelopmental Syndrome |
|
Micrognathia, Feeding difficulties in infancy, Cleft lip, Kyphosis, Cleft palate, Camptodactyly, ... |
OMIM:619123 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Micrognathia, Short metatarsal, Widely spaced teeth, High palate, Narrow chest, Clino... |
OMIM:266920 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Relative macrocephaly, Microcephaly, Overweight, Flexion contracture, Brachycephaly, Plagiocephal... |
ORPHA:500055 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Dyspnea, Pulmonary arterial hypertensio... |
OMIM:242900 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Short nose, Microcephaly, Wide nasal bridge, Broad nasal tip |
OMIM:615716 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Frontal bossing, Inguinal hernia, Depressed nasal bridge, Abnormal dental enamel morphology, Hypo... |
ORPHA:1812 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Pes planus, Abnormal morphology of ulna, Abnormality of the dentition, Car... |
ORPHA:93 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Depressed nasal bridge, Micrognathia, Microcephaly, Bulbous nose, Wide nasal bridge, Short nose, ... |
OMIM:617061 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bo... |
OMIM:112250 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Tapered finger, Submucous cleft hard palate, Downturned corners of mout... |
OMIM:619680 |
Alkuraya-Kucinskas Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Macrocephaly, Plagiocephaly, Camptodactyl... |
OMIM:617822 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Tongue atrophy, Quadriceps muscle atrophy, Hyperlordosis, Intrinsic hand muscle... |
OMIM:620285 |
Ebstein Malformation Of The Tricuspid Valve |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C... |
ORPHA:1880 |
Craniofacioskeletal Syndrome |
|
Barrel-shaped chest, Thin upper lip vermilion, Pes planus, Tracheal stenosis, Micrognathia, Hypop... |
OMIM:300712 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Short humerus, Proximal placement of thumb, Absent radius, Esophageal atresia, Tracheoesophageal ... |
OMIM:314390 |
Cerebrooculonasal Syndrome |
|
Frontal bossing, Anteverted nares, Prominent nasal bridge, Proboscis, Craniosynostosis, Brachycep... |
OMIM:605627 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Frontal bossing, Wide nose, Depressed nasal bridge, Anteverted nares, Small for gestational age, ... |
OMIM:613320 |
Dk1-Cdg |
|
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy |
ORPHA:91131 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Brachyturricephaly, Depressed nasal ridge, Choanal atresia |
OMIM:607597 |
Congenital Generalized Lipodystrophy |
|
Overgrowth of external genitalia, Precocious puberty in females, Congestive heart failure, Polycy... |
ORPHA:528 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Retrognathia, Bifid uvula, Micrognathia |
OMIM:615706 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Short humerus, Short femur, Apnea, Flexion contracture, Orofacial cleft, Fe... |
ORPHA:17 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Brachycephaly |
OMIM:616083 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Depressed nasal bridge, Flat occiput, Anteverted nares, Brachycephaly |
OMIM:618797 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Abnormal repetitive mannerisms, Difficulty walking |
ORPHA:280763 |
Mandibulofacial Dysostosis With Alopecia |
|
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Trismus, Wide nasal b... |
OMIM:616367 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Wide nose, Inguinal hernia, Anteverted nares, Craniosynostosis, Micrognathia, Hypoplasia of the m... |
OMIM:213980 |
Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger... |
ORPHA:69085 |
Hemimegalencephaly |
|
Cranial asymmetry, Macrocephaly |
ORPHA:99802 |
Poikiloderma With Neutropenia |
|
Frontal bossing, Depressed nasal bridge, Micrognathia, Carious teeth, Underdeveloped nasal alae, ... |
OMIM:604173 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Inguinal hernia, Anteverted nares, Macrocephaly, Short nose, Failure to thrive |
OMIM:613735 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Pectus excavatum, Esophageal atresia, Submucous cleft hard palate, Spina bifida occulta, Tracheoe... |
OMIM:619227 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral density, Incre... |
OMIM:166220 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Malar flattening, Micrognathia, Limited kn... |
OMIM:258315 |
White-Sutton Syndrome |
|
Ventral hernia, Inguinal hernia, Depressed nasal bridge, Congenital diaphragmatic hernia, Broad n... |
ORPHA:468678 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Eunuchoid habitus, Hypoplasi... |
ORPHA:3044 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Mitral regurgitation, Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:212140 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Frontal bossing, Narrow nasal ridge, Micrognathia, Microcephaly, Bulbous n... |
OMIM:619512 |
Meier-Gorlin Syndrome 7 |
|
Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, High palate, Dislocate... |
OMIM:617063 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phala... |
OMIM:105650 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Chore... |
OMIM:619580 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Micrognathia, ... |
OMIM:610759 |
Kury-Isidor Syndrome |
|
Frontal bossing, Anteverted nares, Brachycephaly |
OMIM:619762 |
Distal Deletion 15Q |
|
Thin upper lip vermilion, Single transverse palmar crease, Abnormality of the dentition, Microgna... |
ORPHA:1596 |
Trehalase Deficiency |
|
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
Cornelia De Lange Syndrome |
|
Micromelia, Proximal placement of thumb, Micrognathia, Feeding difficulties in infancy, Downturne... |
ORPHA:199 |
Monosomy 9P |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Micrognathia, Congenital diaphragmatic... |
ORPHA:261112 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Short nose, Depressed nasal bridge, Broad nasal tip |
OMIM:619736 |
Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms |
ORPHA:98807 |
Nablus Mask-Like Facial Syndrome |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Craniosynostosis, Hypoplasia of the ma... |
OMIM:608156 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Frontal bossing, Congenital diaphragmatic hernia, Carious teeth, Long nose, Camptodactyly, Short ... |
OMIM:617602 |
Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Protruding tongue, Micro... |
OMIM:617062 |
Cerebrooculonasal Syndrome |
|
Abnormal nostril morphology, Brachycephaly |
ORPHA:66625 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Inguinal hernia, Omphalocele, Anteverted nares, Failu... |
OMIM:247200 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Flexion contracture, Wide nasal bridge, Camptodactyly, ... |
OMIM:610015 |
Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Frontal bossing, Anteverted nares, Camptodactyly of finger, Long nose, Bulbous... |
ORPHA:261211 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Broad nasal tip, Bifid nasal tip, Parietal foramina, Wide nasa... |
OMIM:603671 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Anteverted nares, Hypoplasia of the maxilla, Bulbous nose, Flexion contracture, Failure to thrive... |
ORPHA:481152 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Frontal bossing, Short nose, Micrognathia |
OMIM:256600 |
Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Spina bifida occulta, Upper limb... |
OMIM:607323 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, High palate, Triphalangeal... |
ORPHA:84 |
Pachyonychia Congenita |
|
Respiratory distress, Natal tooth, Angular cheilitis, Feeding difficulties, Palmoplantar keratode... |
ORPHA:2309 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Laryngeal stenosis, Erosion of oral mucosa, Abnormal oral mucosa morphology... |
ORPHA:79404 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, Anteverted nares, Obesity |
OMIM:619854 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Microcephaly, Brachycephaly, Wide nasal bridge, Delayed eruption of perman... |
ORPHA:521445 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Inguinal hernia, Anteverted nares, Lipodystrophy, Broad nasal tip, Carious teeth, Abnormal subcut... |
ORPHA:357074 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Micrognathia, Underdeveloped nasal ala... |
OMIM:619005 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Micrognathia, Pectus excavatum, Kyphosis, High palate, Short philtrum, Radial deviation of finger... |
OMIM:609944 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Diarrhea, Vomiting, Feeding difficulties |
OMIM:612075 |
Immune-Mediated Necrotizing Myopathy |
|
Raynaud phenomenon, Congestive heart failure, Myocarditis, Palpitations |
ORPHA:206569 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormality of bone mineral d... |
ORPHA:861 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Frontal bossing, Depressed nasal bridge, Small for gestational age, Craniosynostosis, Micrognathi... |
OMIM:614114 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... |
OMIM:620292 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Craniosynostosis, Palmoplantar cutis gyrata, Narrow palate, Cleft palate, A... |
ORPHA:1555 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Inability to walk, Macrotia, Abnormal repetitive mannerisms, Hearing impairment |
OMIM:619877 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Laryngotracheal stenosis, Tracheoesophageal fistula, Dysphagia, Up... |
ORPHA:142 |
Beck-Fahrner Syndrome |
|
Microcephaly, Brachycephaly, Macrocephaly |
OMIM:618798 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Short femur, Pneumothorax, Talipes equinovarus, Short tibia |
OMIM:620306 |
Alagille Syndrome |
|
Frontal bossing, Micrognathia, Long nose, Brachycephaly, Failure to thrive |
ORPHA:52 |
Distal Deletion 3P |
|
Inguinal hernia, Anteverted nares, Micrognathia, Microcephaly, Brachycephaly, Umbilical hernia |
ORPHA:1620 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,... |
ORPHA:860 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Micrognathia, Cleft palate, Supernumerary ribs, Malar flattening |
OMIM:613309 |
Arthrogryposis And Ectodermal Dysplasia |
|
Abnormal dental enamel morphology, Microcephaly, Brachycephaly, Atypical scarring of skin, Campto... |
OMIM:601701 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Chronic lung disease, Acute respiratory distress syndrome, Delayed cranial sutu... |
OMIM:620005 |
Myasthenic Syndrome, Congenital, 10 |
|
Respiratory insufficiency due to muscle weakness, Tongue atrophy, Reduced vital capacity |
OMIM:254300 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Feeding difficulties, Stridor, Vo... |
ORPHA:137935 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microcephaly, Depressed nasal bridge, Brachycephaly, Micrognathia |
OMIM:156610 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Hand clenching, Respiratory distress, Dysphagia |
ORPHA:240103 |
Saethre-Chotzen Syndrome |
|
Depressed nasal bridge, Prominent nasal bridge, Craniosynostosis, Hypoplasia of the maxilla, Brac... |
ORPHA:794 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Severely r... |
ORPHA:444013 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Congestive heart failure, Ovarian neoplasm |
ORPHA:137608 |
7Q31 Microdeletion Syndrome |
|
Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Plagiocephaly, Macrocephaly |
ORPHA:251061 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Hypoplasia of the ... |
OMIM:211380 |
Malaria |
|
Nausea and vomiting, Respiratory distress |
ORPHA:673 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Down-sloping shoulders, Micrognathia, Long fingers, 2-3 toe cutaneous syndactyly, Cleft palate, H... |
OMIM:301091 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Respiratory distress, Swelling of proximal interphalangeal joints, Ankle swelling,... |
ORPHA:3260 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Joint laxity, Pes planus, Dental crowding, Kyphoscoliosis, High, narrow palate, Na... |
OMIM:300967 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Gastroesophageal reflux, Short 4th toe, Ad... |
OMIM:615873 |
Craniorachischisis |
|
Bifid sternum, Anal atresia, Sirenomelia |
ORPHA:63260 |
Menke-Hennekam Syndrome 2 |
|
Thin upper lip vermilion, Sandal gap, Overlapping toe, Duodenal ulcer, Micrognathia, Deep philtru... |
OMIM:618333 |
Menkes Disease |
|
Brachycephaly, Microcephaly |
OMIM:309400 |
Opsismodysplasia |
|
Frontal bossing, Flat occiput, Depressed nasal bridge, Macrocephaly, Short nose |
ORPHA:2746 |
Coccidioidomycosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Cough, Peritonitis, Osteolysis, Abnormal long bon... |
ORPHA:228123 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Microcephaly, Brachycephaly, Prominent nose |
OMIM:619244 |
Kaufman Oculocerebrofacial Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Carious teeth, Microcephaly, Brachycephal... |
OMIM:244450 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Prominent nasal bridge, Bulbous nose, Flexion contracture, Interphalangeal thumb joint contractur... |
OMIM:613870 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia |
OMIM:310200 |
Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure |
OMIM:275000 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Abnormal fingertip morphology, Abnormality of the dentition,... |
ORPHA:90154 |
Ohdo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Wide nasal bridge, Hypoplasia of teeth, S... |
OMIM:249620 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Omphalocele, Depressed nasal bridge, Anteverted nares, Prominent nose, Wide nasal bridge, Macroce... |
OMIM:618316 |
Solar Urticaria |
|
Dyspnea, Abnormal tongue morphology, Wheezing, Abnormal lip morphology, Nausea |
ORPHA:97230 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Inguinal hernia, Anteverted nares, Prominent nasal bridge, Trismus, Dental malocclusion, Brachyce... |
OMIM:227330 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Plagiocephaly, Frontal bossing, Brachycephaly, Obesity |
OMIM:617296 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Kyphosis, Cone-shaped epiphyses of the phalanges of the hand... |
ORPHA:420794 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp... |
OMIM:618825 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the premaxilla, Brachycephaly, Plagi... |
ORPHA:2673 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Plagiocephaly, Brachycephaly |
OMIM:619910 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Refsum Disease, Classic |
|
Cardiomyopathy, Arrhythmia, Congestive heart failure |
OMIM:266500 |
3C Syndrome |
|
Frontal bossing, Inguinal hernia, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Promin... |
ORPHA:7 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inability to walk, Abnormal repetitive mannerisms, Large earlobe, Prominent ear helix |
ORPHA:411986 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Micrognathia, Abdominal distention, Postaxial hand polydactyly, Alveola... |
ORPHA:1655 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Flexion contracture, Abnormal form of the vertebral bodies, Reduced... |
ORPHA:581 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Brachycephaly, Prominent nasal bridge, Microcephaly |
OMIM:618885 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Osteomalacia, Wrist swelling, Kyphosis, Hip dislocation, Rickets, Genu v... |
OMIM:309000 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Lipodystrophy, Brachycephaly, Prominent nasolabial fo... |
ORPHA:2962 |
Developmental And Epileptic Encephalopathy 75 |
|
Short nose, Anteverted nares, Wide nasal bridge, Secondary microcephaly |
OMIM:618437 |
Mucolipidosis Type Ii |
|
Hip contracture, Respiratory failure requiring assisted ventilation, Prominent metopic ridge, Cra... |
ORPHA:576 |
Peho Syndrome |
|
Short nose, Retrognathia, Progressive microcephaly |
OMIM:260565 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Small scrotum, Hypospadias, Cryptorchidism, Congestive heart failure, Abnormality of the scrotum |
ORPHA:2505 |
Diamond-Blackfan Anemia |
|
Cleft soft palate, Absent thumb, Micrognathia, Short thumb, Partial duplication of thumb phalanx,... |
ORPHA:124 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Inguinal hernia, Hypoplasia of the maxilla, Wide nasal bridge, Umbilical h... |
OMIM:601499 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Short nose |
OMIM:300143 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, Conical tooth, Cleft upper lip, Carious teeth, 2-3 toe cutaneous syndactyly, Velophar... |
OMIM:129400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Feeding difficulties, High palate, Inspiratory stridor, I... |
OMIM:604377 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Lumbar hyperlordosis, Micrognathia, Cleft lip, Furrowed tongue, Feeding difficulties,... |
OMIM:616975 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Congestive heart failure, Internal hemorrhage, Pulmonary embolism |
ORPHA:90308 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Wide nasal bridge, Brachycephaly, Camptodactyly, M... |
OMIM:601088 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short foot, Joint hyperflexibility, Hand polydactyly, High ... |
ORPHA:250989 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Pes planus, Increased bone mineral density, Abnormality of the Achilles t... |
ORPHA:79474 |
Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
Ritscher-Schinzel Syndrome 4 |
|
Plagiocephaly, Brachycephaly, Wide nasal bridge |
OMIM:619435 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Abdominal distention, Apnea |
ORPHA:79097 |
Aarskog-Scott Syndrome |
|
Inguinal hernia, Anteverted nares, Hypoplasia of the maxilla, Wide nasal bridge, Short nose, Fail... |
OMIM:305400 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy, Areflexia of upper limbs, Areflexia of lower limbs, Talipes equinovarus, Scoliosis |
OMIM:616155 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Dysphagia |
OMIM:613561 |
Diarrhea 12, With Microvillus Atrophy |
|
Osteopenia, Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, De... |
OMIM:619445 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Failure to thrive, Microcephaly, Wide nasal bridge, Joint contracture, Retrognathia, Short nose |
OMIM:618005 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Frontal bossing, Wide nose, Anteverted nares, Cachexia, Micrognathia, Macrocephaly, Dolichocephal... |
ORPHA:109 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Chorea, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnorma... |
OMIM:617600 |
American Trypanosomiasis |
|
Myocarditis, Cardiomyopathy, Arrhythmia, Congestive heart failure |
ORPHA:3386 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Ataxia, Chorea, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics |
OMIM:619725 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Pes planus, Single transverse palmar crease, Gastrointestinal dysmotili... |
ORPHA:466943 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Brachycephaly |
ORPHA:1173 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Broad nasal tip, Wide nasal bridge, Plagiocephaly, Malar flattening, Short... |
OMIM:239300 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Abdominal pain, Productive cough, Nonproductive cou... |
ORPHA:454836 |
Loeys-Dietz Syndrome 3 |
|
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal sternum morphology, High palate, ... |
OMIM:613795 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Orofacial cleft, Abnormal form of the vertebral bo... |
OMIM:194190 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hypogonadotropic hypogonadism, Portal hypertension, Congestive heart failure, Cardiomyopathy, Arr... |
ORPHA:465508 |
Pancreatic insufficiency, combined exocrine |
|
Congestive heart failure |
OMIM:260450 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Wide nose, Frontal bossing, Anteverted nare... |
ORPHA:192 |
Ring Chromosome 22 Syndrome |
|
Protruding tongue, 2-3 toe syndactyly, Large hands, Thick vermilion border, Pleural effusion |
ORPHA:1446 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Depressed nasal bridge, Microcephaly, Bulbous nose, Short nose |
ORPHA:261144 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Congestive heart failure |
ORPHA:500533 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Anorexia, Crackles, Nonproductive cough, Dyspnea, W... |
ORPHA:1302 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Frontal bossing, Bulbous nose, Wide nasal bridge, Dolichocephaly, Short nose |
OMIM:618571 |
Developmental And Epileptic Encephalopathy 64 |
|
Inability to walk, Chorea, Self-injurious behavior, Bruxism, Macrotia, Abnormal repetitive manner... |
OMIM:618004 |
Oromandibular Dystonia |
|
Respiratory distress, Abnormality of the temporomandibular joint, Abnormal mandible morphology, A... |
ORPHA:93958 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Brachycephaly, Depressed nasal bridge, Wide nasal bridge, Micrognathia |
ORPHA:2062 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Rhizomelia, Micrognathia, Brachioradialis areflexia, Trismus, Flexion contr... |
OMIM:616271 |
Coffin-Siris Syndrome 12 |
|
Joint laxity, Micrognathia, Celiac disease, Short thumb, Slender finger, Velopharyngeal insuffici... |
OMIM:619325 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Short nose, Anteverted nares, Biparietal narrowing, Underdeveloped nasal alae |
ORPHA:2031 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Micrognathia, Open bite, Deep philtrum, Short foot, Wi... |
ORPHA:1974 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Death in childhood, Death in adolescence, Osteoporosis, Rickets |
OMIM:560000 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Frontal bossing, Failure to thrive, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Mi... |
OMIM:617157 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Depressed nasal bridge, Small for gestational age, Craniosynostosis, Broad nasal tip, Micrognathi... |
OMIM:309590 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl... |
ORPHA:2975 |
Osteogenesis Imperfecta, Type Xi |
|
Brachycephaly, Dentinogenesis imperfecta |
OMIM:610968 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micromelia, Proximal placement of thumb, Micrognathia, 2-3 toe cutaneous syndact... |
OMIM:270400 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Failure to thrive, Foot joint contracture, Achilles tendon contracture, Brachycephaly, Secondary ... |
ORPHA:456312 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Gait ataxia, Prominent antihelix, Difficulty walking, Abnormal repetitive manne... |
OMIM:617807 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Anterior open-bite malocclusion, Short nose, Anteverted nares, Midface retrusion |
OMIM:617877 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cardiomyopathy, Congestive heart failure |
ORPHA:52430 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Tongue atrophy, P... |
ORPHA:101085 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Micrognathia, Sh... |
OMIM:619841 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Kyphoscoliosis, Calf muscle hypertrophy, Scoliosis, Hand clenching, Nausea |
ORPHA:37612 |
Weill-Marchesani Syndrome 1 |
|
Hypoplasia of the maxilla, Broad skull, Depressed nasal bridge, Brachycephaly |
OMIM:277600 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Carious teeth, Short nose, Anteverted nares |
ORPHA:2701 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Walker-Warburg Syndrome |
|
Metatarsus valgus, Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:899 |
Tetrasomy 18P |
|
Short nose, Microcephaly |
ORPHA:3307 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... |
ORPHA:774 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Anterior rib cupping, Pneumonia, Horizontal inferior border of scapula, Diarrhea, Chro... |
OMIM:102700 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Abnormal repetitive mannerisms, Bruxism, Hearing impairment |
OMIM:616351 |
X-Linked Intellectual Disability, Armfield Type |
|
Mandibular prognathia, Inguinal hernia, Depressed nasal bridge, Micrognathia, Brachycephaly, Macr... |
ORPHA:85276 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy, Dysphagia |
ORPHA:216873 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Frontal bossing, Wide nose, Prominent nasal bridge, Hypoplasia of the ... |
ORPHA:50814 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Micrognathia, Metatarsus adductus, Feeding difficulties in infancy, ... |
ORPHA:513456 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Frontal bossing, Camptodactyly of finger, Microcephaly, Brachycephaly |
ORPHA:1236 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Feeding difficulties in infancy, Orofacial cleft, High palate, Gastroesophageal reflux, Clinodact... |
OMIM:607872 |
Vitamin K Antagonist Embryofetopathy |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Short nose |
ORPHA:1914 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Mandibular aplasia, Microglossia, Respiratory distress, Narrow mouth |
ORPHA:990 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Short nose, Microcephaly |
OMIM:618087 |
Restrictive Dermopathy |
|
Osteopenia, Natal tooth, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple j... |
ORPHA:1662 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi... |
ORPHA:740 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
Diamond-Blackfan Anemia 8 |
|
Short nose, Wide nasal bridge |
OMIM:612563 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
Tetanus |
|
Respiratory distress, Stiff neck, Bowel incontinence, Abdominal pain, Trismus, Tachypnea, Dysphagia |
ORPHA:3299 |
Al-Raqad Syndrome |
|
Short nose, Microcephaly |
OMIM:616459 |
Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Palmopl... |
OMIM:615108 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Inguinal hernia, Depressed nasal bridge, Micrognathia, Microcephaly, Wide nasal bridge, Plagiocep... |
OMIM:613457 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Fetal Hydantoin Syndrome |
|
Short nose, Depressed nasal ridge, Hernia, Microcephaly |
ORPHA:1912 |
Alg9-Cdg |
|
Microretrognathia, Frontal bossing, Omphalocele, Depressed nasal bridge, Lipodystrophy, Micrognat... |
ORPHA:79328 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia |
ORPHA:240085 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Depressed nasal bridge, Brachycephaly, Camptodactyly, Malar flattening, Short nose |
OMIM:601353 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Epiphyseal dysplasia, Congenital hip dislocation, Micrognathia, Feeding difficulties,... |
OMIM:617913 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Diarrhea, Chronic pulmonary obstruction, Pneumothorax, B... |
ORPHA:411703 |
Pentalogy Of Cantrell |
|
Talipes, Abnormal tibia morphology, Split hand, Non-midline cleft lip, Cleft palate, Orofacial cl... |
ORPHA:1335 |
Duplication Of The Pituitary Gland |
|
Microcephaly, Supernumerary tooth, Brachyturricephaly, Decreased body weight, Retrognathia, Midfa... |
ORPHA:314621 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties,... |
ORPHA:927 |
7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Craniosynostosis, Broad nasal tip, Micrognathia, Congenital diaphragmatic hernia... |
ORPHA:96121 |
16P12.1P12.3 Triplication Syndrome |
|
Failure to thrive, Bulbous nose, Malar flattening, Short nose, Retrognathia |
ORPHA:485405 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Abnormal repetitive mannerisms, Macrotia, Gait disturbance, Self-mutilation |
ORPHA:457240 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
OMIM:611126 |
Distal Deletion 12Q |
|
Single transverse palmar crease, Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the mid... |
ORPHA:96149 |
Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Microcephaly, Hypoplasia of the maxilla, Broad nasal tip, Recurrent upper respiratory ... |
ORPHA:293939 |
Classic Multiminicore Myopathy |
|
Congestive heart failure, Right ventricular failure |
ORPHA:324604 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hype... |
OMIM:301500 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure... |
OMIM:614299 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Downturned corners of mouth, Hypoplastic vertebral bodies, Short philtrum, Premature ... |
ORPHA:3455 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Polycystic ovaries |
ORPHA:79083 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Feeding difficulties, Neoplas... |
ORPHA:3047 |
Werner Syndrome |
|
Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Ovarian neoplasm, Hy... |
ORPHA:902 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
Jacobsen Syndrome |
|
Flat occiput, Depressed nasal bridge, Anteverted nares, Micrognathia, Microcephaly, Flexion contr... |
OMIM:147791 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Clubbing, Respiratory... |
OMIM:265120 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Anteriorly placed anus, Oligodontia, Ga... |
OMIM:612289 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Prolidase Deficiency |
|
Depressed nasal bridge, Micrognathia, Concave nasal ridge, Short nose, Failure to thrive |
OMIM:170100 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... |
ORPHA:103907 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Inguinal hernia, Microcephaly, Carious teeth, Hypoplasia of the zygomatic bone... |
ORPHA:1786 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Polycystic ovaries |
ORPHA:2348 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti... |
OMIM:613662 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Intestinal edema, Abdominal pain, Abnormal soft palate morpho... |
ORPHA:100050 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Compulsive behaviors, Att... |
OMIM:300986 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Cleft soft palate, Flexion contracture, Genu valgum, Downturned corners o... |
OMIM:619321 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Single transverse palmar crease, Oral-pharyngeal dysphagia, Small hand, Ost... |
OMIM:615273 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Feeding difficulties |
OMIM:616733 |
Spinal Arteriovenous Metameric Syndrome |
|
Congestive heart failure |
ORPHA:53721 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Micrognathia, Esophageal atresia, Hypoplasia of the radius, Hip dislocatio... |
ORPHA:3412 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171300 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, Feeding difficulties ... |
ORPHA:438216 |
Coffin-Siris Syndrome 7 |
|
Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio... |
OMIM:618027 |
Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Palmopl... |
OMIM:615109 |
Tularemia |
|
Respiratory distress, Pneumonia, Oral ulcer, Cough, Pleural effusion |
ORPHA:3392 |
Athyreosis |
|
Macroglossia, Constipation, Abdominal distention, Feeding difficulties |
ORPHA:95713 |
C Syndrome |
|
Joint dislocation, Micromelia, Micrognathia, High palate, Clinodactyly of the 5th finger, Abnorma... |
ORPHA:1308 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Micro... |
OMIM:614080 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations, Respiratory failure, Dysphagia |
OMIM:613435 |
Tolchin-Le Caignec Syndrome |
|
Arachnodactyly, Micrognathia, Submucous cleft hard palate, High palate, Narrow mouth, Clinodactyl... |
OMIM:618971 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Single transverse palmar crease, Protruding tongue, Submucous cleft hard palate,... |
OMIM:618106 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615637 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:618961 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Limb joint contracture, Microcephaly, Flexion contracture, Brachycepha... |
OMIM:301072 |
Faciocardiorenal Syndrome |
|
Plagiocephaly, Failure to thrive, Wide nasal bridge, Underdeveloped nasal alae |
ORPHA:1973 |
Hypohidrotic Ectodermal Dysplasia |
|
Frontal bossing, Sinusitis, Anteverted nares, Hypoplasia of the maxilla, Failure to thrive |
ORPHA:238468 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Micrognathia, Talipes calcaneovalgus, Widely-spaced maxillary central... |
OMIM:309580 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Inguinal hernia, Camptodactyly of finger, Hypoplasia of the maxilla, Plagi... |
ORPHA:1101 |
Craniofrontonasal Syndrome |
|
Frontal bossing, Congenital diaphragmatic hernia, Bifid nasal tip, Brachycephaly, Wide nasal brid... |
OMIM:304110 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contracture of the p... |
OMIM:300166 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Frontal bossing, Anteverted nares, Brachycephaly, Wide nasal bridge, Macrocephaly |
OMIM:616728 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Meckel Syndrome, Type 1 |
|
Syndactyly, Bowing of the long bones, Thin upper lip vermilion, Natal tooth, Camptodactyly of fin... |
OMIM:249000 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Micrognathia, Multiple enchondromatosis, Hammertoe, Adenocarcinoma of the colon, Pes cavus |
OMIM:620189 |
Hijazi-Reis Syndrome |
|
Abnormal repetitive mannerisms, Gait disturbance |
OMIM:301094 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Severe periodontitis, Overlapping toe, Protruding tongue, Long upper lip, ... |
ORPHA:99843 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrow... |
ORPHA:769 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont... |
ORPHA:261537 |
Lathosterolosis |
|
Anteverted nares, Micrognathia, Microcephaly, Bulbous nose, Biparietal narrowing, Short nose, Fai... |
ORPHA:46059 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Achilles tendon contracture, Brachycephaly, Secondary microcephaly, Failure to thrive, Midface re... |
OMIM:616263 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Posterior plagiocephaly, Macrocephaly, Brachycephaly, Microcephaly |
OMIM:617798 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Upper airway obstruction, Swollen lip |
ORPHA:100057 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... |
OMIM:610042 |
Cri-Du-Chat Syndrome |
|
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Low-set ears, Di... |
OMIM:123450 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... |
OMIM:300048 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:276621 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a... |
OMIM:619121 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia |
ORPHA:90033 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Microcephaly, Underdeveloped nasal alae, Abnormal nostril morphology, ... |
ORPHA:2315 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Primary testicular failure, Congestive heart failure, Oligozoospermi... |
ORPHA:85450 |
Alazami Syndrome |
|
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... |
ORPHA:319671 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Hy... |
ORPHA:99901 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Wide nose, Epistaxis, Microcephaly, Bulbous nose, Brachycephaly, Plagiocephaly |
ORPHA:495818 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
Pediatric-Onset Graves Disease |
|
Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia |
ORPHA:525731 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... |
ORPHA:449291 |
Andersen-Tawil Syndrome |
|
Abnormality of dental color, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathi... |
ORPHA:37553 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Prominent nasal tip, Frontal bossing, Broad nasal tip, Microcephaly, Scaph... |
OMIM:620330 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Nausea and vomiting, Respiratory distress, Anorexia, Abdominal pain, Feeding difficulties |
ORPHA:79312 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Gastrointestinal dysmotility, Calcaneo... |
ORPHA:2152 |
Celiac Disease, Susceptibility To, 1 |
|
Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Osteoporosis, Rickets, Vomiting, ... |
OMIM:212750 |
Trisomy 10P |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Small for gestational age, Abnormality... |
ORPHA:171929 |
Arthrogryposis, Distal, Type 4 |
|
Depressed nasal bridge, Cranial asymmetry, Camptodactyly of 2nd-5th fingers, Distal arthrogryposi... |
OMIM:609128 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Anosmia, Hypoplasia of the zygomatic bone, Short nose |
ORPHA:1295 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Mandibular prognathia, Depressed nasal bridge, Prominent nasal bridge, Anteverted nares, Underdev... |
OMIM:300912 |
Trichothiodystrophy 1, Photosensitive |
|
Small for gestational age, Microcephaly, Flexion contracture, Absence of subcutaneous fat, Short ... |
OMIM:601675 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
Double Outlet Right Ventricle |
|
Intestinal malrotation, Abnormality of cartilage of external ear, Submucous cleft hard palate, Ta... |
ORPHA:3426 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Anteverted nares, Microcephaly, Hypoplasia of teeth, Short nose, Retrognathia |
OMIM:234050 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Myocardial infarction, Congestive... |
ORPHA:183 |
Snijders Blok-Campeau Syndrome |
|
Broad-based gait, Unsteady gait, Low-set ears, Attention deficit hyperactivity disorder, Abnormal... |
OMIM:618205 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Heart murmur |
ORPHA:1054 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Malar flattening, Brachycephaly, Wide nasal bridge |
OMIM:201180 |
Thyroid Hemiagenesis |
|
Macroglossia, Constipation, Abdominal distention |
ORPHA:95719 |
5Q14.3 Microdeletion Syndrome |
|
Short nose, Anteverted nares |
ORPHA:228384 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Pes planus, Genu recurvatum, Tapered f... |
OMIM:619539 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Vomiting |
OMIM:237310 |
Ruvalcaba Syndrome |
|
Inguinal hernia, Short nose, Convex nasal ridge, Microcephaly |
ORPHA:3121 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Brachycephaly, Bulbous nose, Bifid nose |
OMIM:608980 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Kyphoscoliosis, Dysphagia, Movement abnormality of the tongue, Open mouth |
ORPHA:98805 |
Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Large earlobe, Gait imbalance, Low-set ears, Dysphagia,... |
OMIM:619312 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets |
OMIM:613388 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Prominent sternum, Intestinal malrotation, Hypoxemia |
ORPHA:2140 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
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 |
Nipah Virus Disease |
|
Nausea and vomiting, Respiratory distress, Anorexia, Cough |
ORPHA:99825 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Flexion contracture, Downturned corners of mouth, Narrow chest, Genu varum, Long to... |
OMIM:264090 |
Alpha-Mannosidosis, Infantile Form |
|
Mandibular prognathia, Depressed nasal bridge, Craniosynostosis, Cranial hyperostosis, Brachyceph... |
ORPHA:309282 |
Congenital Myopathy 13 |
|
Microcephaly, Micrognathia, Flexion contracture, Brachycephaly, Midface retrusion |
OMIM:255995 |
Carpenter Syndrome 2 |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Carious teeth, Oxyce... |
OMIM:614976 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pericallosal lipoma, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxill... |
ORPHA:306542 |
Trisomy 18 |
|
Microretrognathia, Omphalocele, Choanal atresia, Congenital diaphragmatic hernia, Camptodactyly o... |
ORPHA:3380 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Microcephaly, Wide nasal bridge,... |
ORPHA:1449 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Amelia, Ankylog... |
OMIM:618021 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... |
ORPHA:264675 |
Joubert Syndrome 1 |
|
Central apnea, Episodic tachypnea, Protruding tongue, Postaxial hand polydactyly, Postaxial foot ... |
OMIM:213300 |
Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... |
ORPHA:2299 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Arrhy... |
ORPHA:727 |
Down Syndrome |
|
Joint laxity, Sandal gap, Single transverse palmar crease, Aganglionic megacolon, Protruding tong... |
OMIM:190685 |
Hyperkalemic Periodic Paralysis |
|
Congestive heart failure, Arrhythmia |
ORPHA:682 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Short nose, Micrognathia |
ORPHA:496790 |
Idiopathic Neonatal Atrial Flutter |
|
Feeding difficulties in infancy, Tachypnea, Respiratory distress |
ORPHA:45452 |
Chand Syndrome |
|
Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol... |
ORPHA:1401 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Fat malabsorption, Rickets |
OMIM:211600 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Narrow nasal bridge, Anteverted nares, Abnormal dental enamel morphology, ... |
ORPHA:2710 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Veloph... |
OMIM:209885 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
Alstrom Syndrome |
|
Hypertension, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Congestive heart failure |
OMIM:203800 |
Fraser Syndrome |
|
Subglottic stenosis, Finger syndactyly, Anal stenosis, Toe syndactyly, Dental crowding, Death in ... |
ORPHA:2052 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose, Failure to thrive |
OMIM:616430 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bulbous nose, Depressed nasal bridge, Choanal atresia, Short nose |
ORPHA:284169 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypertension, Dilated cardiomyopathy, Congestive heart failure, Myocardial infarction |
OMIM:208000 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Hypoplasia of the zygomatic bone, Brachycephaly |
OMIM:614800 |
Lead Poisoning |
|
Delayed eruption of teeth, Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Asthma, C... |
ORPHA:330015 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Meckel Syndrome |
|
Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Talipes, Micrognathia, Preaxial hand ... |
ORPHA:564 |
Loeys-Dietz Syndrome |
|
Joint dislocation, Pes planus, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Microgn... |
ORPHA:60030 |
Adiposis Dolorosa |
|
Abdominal distention, Constipation |
OMIM:103200 |
Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Palmopl... |
OMIM:158350 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose |
ORPHA:85277 |
Acquired Idiopathic Sideroblastic Anemia |
|
Congestive heart failure |
ORPHA:75564 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Broad nasal tip, Hypoplasia of the maxilla, Depressed nasal ridge, Nasal congestion, Hypoplasia o... |
ORPHA:79345 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Cleft soft palate, Micrognathia, Feeding difficulties, Hypoxemia, Submucous cleft soft palate, Pu... |
ORPHA:2282 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnorm... |
OMIM:616393 |
1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Thick vermilion border, Talipes equinovarus, Cleft palate |
ORPHA:250999 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Depressed nasal bridge, Craniosynostosis, Micrognathia, Brachycephaly, Wide nasal bridge, Obesity... |
ORPHA:369837 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy |
OMIM:609015 |
Charge Syndrome |
|
Delayed eruption of teeth, Talipes, Cleft upper lip, Abnormal soft palate morphology, Feeding dif... |
ORPHA:138 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Congestive heart failure, Dilated cardiomyopathy, Portal hypertension |
ORPHA:367 |
Holoprosencephaly 9 |
|
Depressed nasal bridge, Hypoplasia of the premaxilla, Microcephaly, Hypoplasia of the maxilla, Ag... |
OMIM:610829 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Small intestinal dysmotility, Poor appetite, Abnormality of the hand, Atrophic muscularis propria... |
ORPHA:298 |
Potocki-Lupski Syndrome |
|
Abnormal repetitive mannerisms, Hyperactivity, Oral-pharyngeal dysphagia, Hearing impairment |
OMIM:610883 |
Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Popliteal pterygium, Cutaneous ... |
OMIM:119500 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Osteomyelitis, Pneumonia, Abdominal pain, Abnormality of the low... |
ORPHA:36234 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturbance, Obsessive-compul... |
ORPHA:168491 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Carious teeth, Feeding difficulties in infancy, Xero... |
ORPHA:1051 |
Gapo Syndrome |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Micrognathia, Eruption failure, Plagio... |
OMIM:230740 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Arrhythmia |
ORPHA:746 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Barrel-shaped chest, Respiratory distress, Lumbar hyperlordosis, Joint stiffness, Flexion contrac... |
ORPHA:505248 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Inguinal hernia, Depressed nasal bridge, Anteverted nares, Microcephaly, Dolichocephaly, Short nose |
ORPHA:2719 |
Friedreich Ataxia |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:229300 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum |
OMIM:618732 |
Cerebrofacioarticular Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Bilateral choanal atresia/stenosis, Microcephaly, Wide n... |
ORPHA:314679 |
4Q21 Microdeletion Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Low-set ears, Hearing impairment |
ORPHA:238750 |
Aymé-Gripp Syndrome |
|
Inguinal hernia, Depressed nasal bridge, Craniosynostosis, Congenital diaphragmatic hernia, Brach... |
ORPHA:1272 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Prominent nasal bridge, Brachycephaly, Wide nasal bridge, Advanced eruption of teeth... |
ORPHA:1519 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Frontal bossing, Turricephaly, Anteverted nares, Prominent nasal bridge, D... |
OMIM:612474 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Mandibular prognathia, Limitation of movement at ankles, Protruding tongue, Feeding difficulties,... |
ORPHA:98794 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... |
ORPHA:70591 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Abdominal distention, Rectal atresia, Short thorax, Cutaneous syndactyly,... |
OMIM:617666 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Dyspnea, Abdominal distention |
OMIM:174050 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont... |
ORPHA:261552 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Large for gestational age, Macrocephaly, Trigonocephaly, Umbilical her... |
ORPHA:77301 |
48,Xxyy Syndrome |
|
Chronic otitis media, Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity dis... |
ORPHA:10 |
Primary Effusion Lymphoma |
|
Dyspnea, Abdominal distention, Pleural effusion, Abdominal pain |
ORPHA:48686 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Feeding difficulties, Death in childhood |
OMIM:615597 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Abdominal pain, Feeding difficulties, Respiratory failure, Dysphagia |
OMIM:620166 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Cardiomyopathy, Congestive heart failure |
OMIM:616866 |
Pontocerebellar Hypoplasia, Type 10 |
|
Underdeveloped nasal alae, Microcephaly, Bulbous nose, Wide nasal bridge, Short nose, Progressive... |
OMIM:615803 |
Loeys-Dietz Syndrome 2 |
|
Micrognathia, Pectus carinatum, Abnormal sternum morphology, Bifid uvula, Joint laxity, Syndactyl... |
OMIM:610168 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Impaired pain sensation, Gait ataxia, Low-set ears, Abnormal repetitive mannerisms, Overfriendliness |
OMIM:616579 |
Colchicine Poisoning |
|
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia |
ORPHA:31824 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Posteri... |
OMIM:306955 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High... |
OMIM:220110 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, M... |
OMIM:618454 |
Rhombencephalosynapsis |
|
Microretrognathia, Short nose, Anteverted nares, Macrocephaly |
ORPHA:59315 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Inguinal hernia, Depressed nasal bridge, Large for ge... |
OMIM:280000 |
Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Anteverted nares, Prominent nasal bridge, Narrow nasal ridge, Under... |
OMIM:620370 |
Rett Syndrome |
|
Inability to walk, Gait disturbance, Agitation, Difficulty walking, Abnormal repetitive mannerism... |
ORPHA:778 |
Gm1 Gangliosidosis |
|
Congestive heart failure, Abnormality of the scrotum, Cardiomyopathy |
ORPHA:354 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Abnormal r... |
OMIM:617751 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Abnormal repetitive mannerisms |
OMIM:618067 |
1P21.3 Microdeletion Syndrome |
|
Broad nasal tip, Micrognathia, Obesity, Macrocephaly, Short nose |
ORPHA:293948 |
Congenital Pancreatic Cyst |
|
Abdominal distention, Vomiting, Anorexia, Abdominal pain |
ORPHA:313906 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Intestinal malrotation, Pectus excavatum, Cough, Tachypnea, Esophageal ... |
OMIM:613658 |
Jaberi-Elahi Syndrome |
|
Short nose, Failure to thrive, Depressed nasal bridge, Microcephaly |
OMIM:617988 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Depressed nasal bridge, Broad nasal tip, Brachycephaly, Depressed nasal tip, Contracture of the p... |
OMIM:618223 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Short nose, Wide nasal bridge, Underdeveloped nasal alae |
ORPHA:894 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Pica, Low-set ears, Obses... |
OMIM:617796 |
Degcags Syndrome |
|
Osteopenia, Micrognathia, Oral-pharyngeal dysphagia, High palate, Gastroesophageal reflux, Syndac... |
OMIM:619488 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Nausea and vomiting, Respiratory distress |
ORPHA:289916 |
Congenital Sialidosis Type 2 |
|
Polydactyly, Gingival overgrowth, Protruding tongue |
ORPHA:93400 |
Rauch-Steindl Syndrome |
|
Attached earlobe, Hyperactivity, Miscarriage, Aggressive behavior, Prominent crus of helix, Protr... |
OMIM:619695 |
Myhre Syndrome |
|
Mandibular prognathia, Small for gestational age, Prominent nasal bridge, Microcephaly, Hypoplasi... |
OMIM:139210 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Abnormality of the knee, Calcification of the auricular cartilage, Osteomal... |
ORPHA:51608 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Loss of ambulation, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:79264 |
Chromosome 18Q Deletion Syndrome |
|
Hypospadias, Cryptorchidism, Congestive heart failure, Aortic valve stenosis, Micropenis |
OMIM:601808 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
Khan-Khan-Katsanis Syndrome |
|
Frontal bossing, Micrognathia, Microcephaly, Corneal scarring, Joint contracture, Short nose, Fai... |
OMIM:618460 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Exaggerated cupid's bow, Apnea, Anorexia, Oral-pharyngeal dysphagia, Abdomi... |
ORPHA:2131 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Malabsorption, Chronic diarrhea, Recurrent pneumonia, Glossoptosis, Art... |
ORPHA:47 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Anteverted nares, Craniosynostosis, Mi... |
ORPHA:508533 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Wide anterior fontanel, Vomiting, Neonatal death, Nausea |
OMIM:231680 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Missing ribs, Abdominal distention, Rib fusion, Hemivertebrae,... |
OMIM:271520 |
Opitz Gbbb Syndrome |
|
Natal tooth, Prominent metopic ridge, Craniosynostosis, Micrognathia, Feeding difficulties in inf... |
ORPHA:2745 |
Micro Syndrome |
|
Anteverted nares, Microcephaly, Micrognathia, Wide nasal bridge, Short nose |
ORPHA:2510 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Micrognath... |
OMIM:606170 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Brachycephaly |
ORPHA:371428 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:605676 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... |
ORPHA:91139 |
Galloway-Mowat Syndrome 6 |
|
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter |
OMIM:618347 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Micrognathia, Cessation of head growth, Contractures of the large joints, Short nose, Failure to ... |
OMIM:617527 |
Volvulus Of Midgut |
|
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... |
OMIM:193250 |
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 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Arrhythmia, Congestive heart failure |
ORPHA:26791 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Macrotia, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:300486 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Poly... |
ORPHA:280365 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... |
ORPHA:1201 |
Japanese Encephalitis |
|
Respiratory distress, Stiff neck, Genu recurvatum, Anorexia, Abdominal pain, Diarrhea, Elbow flex... |
ORPHA:79139 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Abnormality of the temporomandibular joint, Protruding tongue, Hyperlordosis, Fl... |
ORPHA:258 |
Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia |
ORPHA:208447 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Brachycephaly, Flat occiput, Depressed nasal ridge, Wide nasal bridge |
ORPHA:2211 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner... |
OMIM:618914 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Natal tooth, Thoracic scoliosis, Broad hallux, Single t... |
OMIM:620186 |
Acquired Methemoglobinemia |
|
Respiratory distress, Abdominal pain, Dyspnea, Hypoxemia, Vomiting |
ORPHA:464453 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:29072 |
Infantile Krabbe Disease |
|
Respiratory distress, Nasogastric tube feeding in infancy, Feeding difficulties, Ankle clonus, Re... |
ORPHA:206436 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Micrognathia, Microcephaly, Bulbous nose, Wide nasal bridge, Brachycephaly... |
OMIM:309500 |
Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... |
ORPHA:530 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Narrow nose, Underdeveloped nasal alae, Carious teeth, Mic... |
OMIM:164200 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, High palate |
OMIM:619272 |
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Brachycephaly |
ORPHA:2988 |
Mietens Syndrome |
|
Wide nose, Wide nasal bridge, Short nose, Microcephaly |
ORPHA:2557 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Bowel incontinence, Hyperlordosis, Feeding difficulties in infan... |
ORPHA:365 |
Loeys-Dietz Syndrome 1 |
|
Joint laxity, Arachnodactyly, Eosinophilic infiltration of the esophagus, Micrognathia, Craniosyn... |
OMIM:609192 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wrist flexion c... |
OMIM:268300 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Metaphyseal widening, Rickets, Genu valgum, Dysphagia, Hypophosphatemi... |
OMIM:219800 |
Kbg Syndrome |
|
Anteverted nares, Prominent nasal bridge, Microcephaly, Underdeveloped nasal alae, Brachycephaly |
OMIM:148050 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
Gm1-Gangliosidosis, Type I |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
OMIM:230500 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... |
OMIM:620066 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Mandibular prognathia, Protruding tongue, Feeding difficulties, Wide mouth, Widely spaced teeth, ... |
ORPHA:98795 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Monosomy 18Q |
|
Left-to-right shunt, Bilateral cryptorchidism, Congestive heart failure, Mitral regurgitation, Ao... |
ORPHA:1600 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Reye syndrome-like episo... |
ORPHA:348 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal earlobe m... |
ORPHA:500159 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... |
ORPHA:31826 |
Rett Syndrome, Congenital Variant |
|
Chorea, Tongue thrusting, Protruding ear, Athetosis, Bruxism, Abnormal repetitive mannerisms |
OMIM:613454 |
Cutis Marmorata Telangiectatica Congenita |
|
Short lower limbs, Bowing of the legs |
OMIM:219250 |
Hunter-Macdonald Syndrome |
|
Inguinal hernia, Brachycephaly, Umbilical hernia, Camptodactyly, Malar flattening, Joint contract... |
OMIM:611962 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Ankle flexion contracture, Abdominal pain, Abdominal distention, Diarrhea, Respiratory insufficie... |
ORPHA:100924 |
Cowden Syndrome |
|
Pectus excavatum, Kyphosis, Bone cyst, Furrowed tongue, Hamartomatous polyposis, Macroglossia, Pa... |
ORPHA:201 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Pes planus, Reduced vital capacity, Kyph... |
ORPHA:99956 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Crackles, Abdominal distention, Dyspnea, Chronic diarrhea, Asthma, Bron... |
OMIM:620233 |
Cutis Laxa, Autosomal Dominant 1 |
|
Uterine prolapse, Congestive heart failure, Mitral regurgitation, Aortic regurgitation |
OMIM:123700 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
Mercury Poisoning |
|
Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Respiratory failure, Interstiti... |
ORPHA:330021 |
Macrocephaly-Developmental Delay Syndrome |
|
Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:397612 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets, Rachitic rosary |
OMIM:612089 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Wide nasal bridge, Bilateral choanal atresia |
OMIM:106260 |
3Q29 Microdeletion Syndrome |
|
Prominent nasal bridge, Microcephaly, Macrocephaly, Short nose, Failure to thrive |
ORPHA:65286 |
Osteopetrosis With Renal Tubular Acidosis |
|
Failure to thrive, Persistence of primary teeth, Micrognathia, Brachycephaly, Plagiocephaly, Prom... |
ORPHA:2785 |
22Q11.2 Duplication Syndrome |
|
Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno... |
ORPHA:1727 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Depressed nasal bridge, Small ... |
OMIM:268400 |
Lelis Syndrome |
|
Mandibular prognathia, Carious teeth, Palmoplantar hyperkeratosis, Furrowed tongue, Hypodontia |
ORPHA:140936 |
White-Kernohan Syndrome |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Obesity, Short nose, Retrogn... |
OMIM:619426 |
Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, High-output congestive heart failure, Congestive heart failure, Telangiectasia, Cerebr... |
ORPHA:137667 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis... |
ORPHA:95430 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Abdominal distention, Osteoporosis |
ORPHA:369 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Bulbous nose, Brachycephaly, Cam... |
ORPHA:3063 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Phelan-Mcdermid Syndrome |
|
Broad-based gait, Impaired pain sensation, Aggressive behavior, Unsteady gait, Tongue thrusting, ... |
OMIM:606232 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Anteverted nares, Broad nasal tip, Hy... |
OMIM:617402 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia |
ORPHA:97285 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Frontal bossing, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Rh... |
OMIM:305100 |
Angelman Syndrome Due To A Point Mutation |
|
Mandibular prognathia, Protruding tongue, Feeding difficulties, Wide mouth, Widely spaced teeth, ... |
ORPHA:411511 |
Vater/Vacterl Association |
|
Syndactyly, Laryngeal stenosis, Absent radius, Short thumb, Esophageal atresia, Hypoplasia of the... |
OMIM:192350 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Microcephaly, Short nose |
ORPHA:280200 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Posteriorly rotated ears, Attention deficit hyperactivity disorder, Low-set ears, Abnormal repeti... |
OMIM:619293 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Prominent metopic ri... |
ORPHA:2729 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal distention... |
ORPHA:92050 |
Goldberg-Shprintzen Syndrome |
|
Prominent nasal bridge, Microcephaly, Hypoplasia of the maxilla, Bulbous nose, Wide nasal bridge |
OMIM:609460 |
Angelman Syndrome |
|
Mandibular prognathia, Protruding tongue, Gastrostomy tube feeding in infancy, Dysphagia, Feeding... |
ORPHA:72 |
Tsh-Secreting Pituitary Adenoma |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Supraventricular arrhythmia, Congestive heart... |
ORPHA:91347 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Stt3B-Cdg |
|
Respiratory distress, Feeding difficulties |
ORPHA:370924 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage |
ORPHA:33226 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Chronic diarrhea, Glossitis, Poor appetite |
ORPHA:2221 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microretrognathia, Scarring, Hiatus hernia, Brachycephaly, Atrophic scars, Short columella, Dista... |
OMIM:601776 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Ataxia |
OMIM:619428 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Microretrognathia, Inguinal hernia, Craniosynostosis, Prominent nasolabial fold, Atrophic scars, ... |
ORPHA:2953 |
Chromosome 16P13.3 Duplication Syndrome |
|
Wide nose, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Micrognathia, Bulbous nose,... |
OMIM:613458 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Feeding difficulties in... |
ORPHA:308552 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Congestive heart failure |
OMIM:619259 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Abnormal thorax morphology, Tachypnea, Nasal flaring, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Short nose, Oxycephaly, Craniosynostosis |
OMIM:200995 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, Pes planus, Cleft soft palate, Kyphoscoliosis, Feeding difficulties, Talipes equinovarus |
OMIM:614557 |
Holocarboxylase Synthetase Deficiency |
|
Nausea and vomiting, Tachypnea, Respiratory distress, Anorexia |
ORPHA:79242 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets |
OMIM:611590 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Broad-based gait, Aggressive behavior, Underfolded superior helices, Gait disturbance, Attention ... |
OMIM:300352 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Prominent nasal bridge, Craniosynostosis, Wide nasal bridge, Depres... |
OMIM:265050 |
Aspartylglucosaminuria |
|
Depressed nasal bridge, Anteverted nares, Microcephaly, Hypoplastic frontal sinuses, Brachycephal... |
OMIM:208400 |
Branchiooculofacial Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Cleft upper lip, Malrotation of col... |
OMIM:113620 |
Noonan Syndrome 3 |
|
Frontal bossing, Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosynostosis, Scaphocep... |
OMIM:609942 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Gastrostomy tube feeding in infancy, Carious teeth, Esophageal... |
ORPHA:89842 |
Cadds |
|
Short nose, Micrognathia |
ORPHA:369942 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hematochezia, Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure |
OMIM:615895 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Fat malabsorption, Rickets, Steatorrhea |
OMIM:607765 |
Cardiac Diverticulum |
|
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... |
ORPHA:1686 |
Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Dyspnea, Pedal edema |
ORPHA:168811 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... |
ORPHA:466677 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Proximal muscle weakness in upper limbs, Flexion contracture of finger, Tongue atrophy, Hand musc... |
ORPHA:466768 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress |
ORPHA:254913 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:620242 |
Dietary Iron Overload Disease |
|
Congestive heart failure |
ORPHA:139507 |
Ctcf-Related Neurodevelopmental Disorder |
|
Inguinal hernia, Anteverted nares, Small for gestational age, Craniosynostosis, Broad nasal tip, ... |
ORPHA:363611 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Elbow flex... |
OMIM:612394 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Death in infancy, Hypoventilation, Elbow contracture, Abdominal distention, Knee contracture, Fee... |
OMIM:620275 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Pneumonia, Tachypnea, Feeding difficulties, Anteriorly ... |
ORPHA:26793 |
14Q22Q23 Microdeletion Syndrome |
|
Malar flattening, Underdeveloped nasal alae, Brachycephaly, Micrognathia |
ORPHA:264200 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Feeding difficulties, Stridor, Gastroesophageal reflux, Poor suck |
OMIM:615595 |
Tetraamelia Syndrome 1 |
|
Micrognathia, Cleft upper lip, Cleft palate, Hypoplastic pelvis, Tetraamelia, Anal atresia |
OMIM:273395 |
Myotonic Dystrophy 1 |
|
Feeding difficulties in infancy, Respiratory distress, Dysphagia |
OMIM:160900 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... |
ORPHA:324 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Kyphosis, Limited shoulder movement, Arthritis, Thickened Achilles... |
OMIM:203500 |
Sepsis In Premature Infants |
|
Abnormal mucociliary clearance, Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Dys... |
ORPHA:90051 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Micrognathia, Submucous cleft hard palate, Vertebral clefting, Cleft palate, Ga... |
OMIM:301043 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Stiff neck, Crackles, Nonproductive cough, Fulminant hepatitis, Odynophagia... |
ORPHA:319213 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Ataxia, Death in childhood, Dysphagia, Abnormal repetitive mannerisms |
OMIM:607625 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Congestive heart failure |
OMIM:619355 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
16P13.11 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Microcephaly, Short nose |
ORPHA:261236 |
Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Abdominal pain, Celiac disease, Hematemesis, Thoracolu... |
OMIM:301068 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors, Macrotia, Abnormal repeti... |
OMIM:615656 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Short nose, Microcephaly, Wide nasal bridge, Broad nasal tip |
OMIM:614207 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Microcephal... |
ORPHA:1465 |
Cystinosis |
|
Rickets, Malabsorption |
ORPHA:213 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Frontal bossing, Short nose, Microcephaly, Macrocephaly |
OMIM:252160 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Nar... |
OMIM:154500 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Poor appetite, Abdominal pain, Intra-oral hyperpigmentation, Cheilitis, Dysphagia... |
ORPHA:54028 |
Carney Complex, Type 1 |
|
Congestive heart failure |
OMIM:160980 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Submucous cleft hard palate, Bifid uvula |
OMIM:617660 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Osteomyelitis, Gastritis, Pneumonia, Malabsorption, Ileus, Secretory diarrh... |
ORPHA:37042 |
Pediatric Systemic Lupus Erythematosus |
|
Abdominal pain, Abdominal distention, Diarrhea, Dyspnea, Oral ulcer, Arthritis, Vomiting, Pleural... |
ORPHA:93552 |
Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618354 |
Velocardiofacial Syndrome |
|
Talipes, Abnormality of the hand, Velopharyngeal insufficiency, Submucous cleft hard palate, Pier... |
OMIM:192430 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Respiratory distress, Autoamputation of digits, Reye syndrome-like episode... |
OMIM:256810 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
Primrose Syndrome |
|
Hip contracture, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Hypoplasia of the max... |
OMIM:259050 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Mildly reduced left ventricular ejection fraction, Congestive heart failure... |
ORPHA:99094 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Anteverted nares, Choanal atresia, Congenital diaphragmatic hernia, Microcephaly, Camptodactyly, ... |
OMIM:301044 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Long nose, Malar flattening, Short nose, Depressed nasal bridge |
OMIM:618590 |
Pitt-Hopkins-Like Syndrome 2 |
|
Protruding tongue, Feeding difficulties, Wide mouth, Gastroesophageal reflux, Constipation, Scoli... |
OMIM:614325 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Frontal bossing, Short nose, Microcephaly, Macrocephaly |
OMIM:252150 |
Wiedemann-Steiner Syndrome |
|
Microcephaly, Wide nasal bridge, Dolichocephaly, Short nose, Failure to thrive |
ORPHA:319182 |
Noonan Syndrome With Multiple Lentigines |
|
Brachycephaly, Wide nasal bridge |
ORPHA:500 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Digeorge Syndrome |
|
Micrognathia, High, narrow palate, Asthma, Chronic pulmonary obstruction, Recurrent pneumonia, Cl... |
OMIM:188400 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Aplasia of the nasal bone, Acrania, Micrognathia, Secondary microcephaly, Macrocepha... |
OMIM:618820 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Tracheoesophageal fistula, Feeding difficulties, High palate, Talipes e... |
OMIM:277380 |
Mucopolysaccharidosis, Type Ii |
|
Congestive heart failure |
OMIM:309900 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Fat malabsorption, Rickets, Steatorrhea |
ORPHA:79303 |
Amoebiasis Due To Entamoeba Histolytica |
|
Constrictive pericarditis, Congestive heart failure |
ORPHA:67 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Choreoathetosis, Attention deficit hyperactivity disorder, Cond... |
ORPHA:261197 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Weiss-Kruszka Syndrome |
|
Short nose, Anteverted nares |
OMIM:618619 |
Donohue Syndrome |
|
Abdominal distention, Thick lower lip vermilion, Gingival overgrowth, Wide mouth, Large hands, Lo... |
OMIM:246200 |
Leigh Syndrome |
|
Congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:506 |
Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal... |
ORPHA:488618 |
1P36 Deletion Syndrome |
|
Frontal bossing, Depressed nasal bridge, Camptodactyly of finger, Microcephaly, Depressed nasal r... |
ORPHA:1606 |
Megalocornea-Intellectual Disability Syndrome |
|
Abnormal repetitive mannerisms, Sensorineural hearing impairment, Ataxia, Protruding ear |
ORPHA:2479 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Respiratory distress, Ab... |
ORPHA:537 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Knee flexion contracture, Calf muscle hypertrophy, Talipes equinovarus, Asp... |
OMIM:618733 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Wide nose, Depressed nasal bridge, Microcephaly, Bulbous nose, Brachycephaly |
OMIM:610442 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... |
ORPHA:980 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic val... |
ORPHA:363618 |
Thauvin-Robinet-Faivre Syndrome |
|
Pes planus, Bowing of the legs, Pedal edema, Macroglossia, Large hands, Thick vermilion border, L... |
OMIM:617107 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short nose |
ORPHA:2983 |
Hydroxykynureninuria |
|
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms |
ORPHA:79155 |
Beta-Thalassemia Intermedia |
|
High-output congestive heart failure, Hypogonadism, Pulmonary arterial hypertension |
ORPHA:231222 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Congestive heart failure, Arterial rupture |
ORPHA:1900 |
Toriello-Lacassie-Droste Syndrome |
|
Short nose, Failure to thrive, Anteverted nares, Macrocephaly |
ORPHA:3339 |
Aorta Coarctation |
|
Congestive heart failure, Hypertension, Pulmonary arterial hypertension |
ORPHA:1457 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Underdeveloped na... |
ORPHA:920 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia |
ORPHA:238459 |
Bilateral Perisylvian Polymicrogyria |
|
Apnea, Micrognathia, Pectus excavatum, Protruding tongue, Flexion contracture, Feeding difficulti... |
ORPHA:98889 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Arrhythmia, Hypotension |
ORPHA:428 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Prominent nasal tip, Short nose, Brachyturricephaly, Progressive flexion contractures |
ORPHA:522077 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... |
ORPHA:160148 |
Distal Deletion 19P |
|
Hypoplasia of the maxilla, Umbilical hernia, Vaginal hernia, Keloids |
ORPHA:96129 |
Ovarian Fibroma |
|
Odontogenic keratocysts of the jaw, Abdominal pain, Abdominal distention, Peritonitis, Pleural ef... |
ORPHA:314473 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Wide nose, Anteverted... |
ORPHA:93357 |
Common Variable Immunodeficiency |
|
Failure to thrive in infancy, Brachycephaly |
ORPHA:1572 |
Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption |
OMIM:606824 |
Cocaine Intoxication |
|
Respiratory distress, Abdominal pain, Intestinal perforation, Wheezing, Tachypnea, Pneumothorax, ... |
ORPHA:90068 |
Hereditary Mucoepithelial Dysplasia |
|
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Vomiting |
OMIM:251000 |
Seckel Syndrome 10 |
|
Hypertension, Congestive heart failure |
OMIM:617253 |
Incontinentia Pigmenti |
|
Telangiectasia of the skin, Congestive heart failure, Retinal hemorrhage, Cerebral ischemia, Pulm... |
ORPHA:464 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... |
OMIM:149730 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
Icf Syndrome |
|
Macroglossia, Malabsorption, Micrognathia, Protruding tongue |
ORPHA:2268 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Pain insensitivity, Broad-based gait, Ataxia, Posteriorly rotated ears, Overfolded helix, Dysmetr... |
OMIM:617330 |
Generalized Pustular Psoriasis |
|
Congestive heart failure |
ORPHA:247353 |
Aceruloplasminemia |
|
Congestive heart failure |
ORPHA:48818 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... |
ORPHA:209905 |
Joubert Syndrome 6 |
|
Abnormal repetitive mannerisms, Ataxia |
OMIM:610688 |
Giant Cell Arteritis |
|
Epistaxis, Anorexia, Abdominal pain, Joint stiffness, Arthritis, Gastrointestinal infarctions, Co... |
ORPHA:397 |
Nicolaides-Baraitser Syndrome |
|
Narrow nasal bridge, Inguinal hernia, Anteverted nares, Microcephaly, Bulbous nose, Umbilical her... |
OMIM:601358 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, D... |
ORPHA:210122 |
Chime Syndrome |
|
Supernumerary tooth, Depressed nasal ridge, Brachycephaly |
ORPHA:3474 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Kyphosi... |
OMIM:615512 |
Erdheim-Chester Disease |
|
Congestive heart failure, Hypogonadotropic hypogonadism |
ORPHA:35687 |
Peters Plus Syndrome |
|
Frontal bossing, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Micrognathia, Microce... |
ORPHA:709 |
Jacobsen Syndrome |
|
Frontal bossing, Inguinal hernia, Anteverted nares, Wide nasal bridge, Macrocephaly, Trigonocepha... |
ORPHA:2308 |
Pmm2-Cdg |
|
Mandibular prognathia, Thin upper lip vermilion, Osteopenia, Multiple joint contractures, Joint l... |
ORPHA:79318 |
Mucopolysaccharidosis Type 1 |
|
Congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:579 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets, Colitis, Steatorrhea |
ORPHA:309031 |
Wilson Disease |
|
Acute hepatic failure, Osteomalacia, Abdominal distention, Osteoarthritis, Esophageal varix, Oste... |
OMIM:277900 |
Eisenmenger Syndrome |
|
Respiratory distress, Increased pulmonary vascular resistance, Abdominal distention, Wheezing, Cl... |
ORPHA:97214 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Abnormal dental enamel morphology, Micrognathia, Dyspnea, Feeding difficult... |
ORPHA:2556 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Inability to walk, Sensorineural hearing impairment, Bilateral sensorineural hear... |
ORPHA:300570 |
Spinocerebellar Ataxia Type 36 |
|
Tongue atrophy, Tongue fasciculations, Bowel incontinence, Dysphagia |
ORPHA:276198 |
Vici Syndrome |
|
Dilated cardiomyopathy, Penile hypospadias, Congestive heart failure, Cardiomyopathy |
OMIM:242840 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Feeding difficulties, Stomatitis, Pulmonary arterial hy... |
ORPHA:79282 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Death in infancy, Osteomyelitis, Abdominal distention, Arthritis, Death in childhood, Septic arth... |
OMIM:619423 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Flexion contracture |
OMIM:618201 |
Chops Syndrome |
|
Short nose, Anteverted nares, Obesity, Microcephaly |
OMIM:616368 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Inability to walk, Sensorineural hearing impairment, Abnormal repetitive mannerisms, Self-injurio... |
ORPHA:457351 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Congestive heart failure, Left ventricular outflow tract obstruction, Heart ... |
ORPHA:99050 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Feeding difficultie... |
OMIM:618426 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Single transverse palmar crease, High, narrow palate, Short philtrum, High palate, Vomiting, Join... |
OMIM:619475 |
Listeriosis |
|
Respiratory distress, Stiff neck, Miscarriage, Osteomyelitis, Pneumonia, Abdominal pain, Diarrhea... |
ORPHA:533 |
Wolman Disease |
|
Nausea and vomiting, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea, Hepatic f... |
ORPHA:75233 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Microretrognathia, Macrocephaly at birth, Anteverted nares, Prominent occiput, Short nose, Flexio... |
ORPHA:280633 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Trisomy 8P |
|
Multiple joint contractures, Depressed nasal bridge, Anteverted nares, Microcephaly, Recurrent up... |
ORPHA:264450 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Microcephaly, Hiatus hernia, Plagiocephaly, Multiple lipomas |
ORPHA:50 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... |
OMIM:606721 |
Geleophysic Dysplasia 1 |
|
Congestive heart failure, Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis |
OMIM:231050 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Prominent antihelix, Macrotia, Abnormal repetitive mannerisms, Inappropriate laughter |
OMIM:615802 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala... |
ORPHA:3241 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Fanconi-Bickel Syndrome |
|
Osteomalacia, Poor appetite, Malabsorption, Abdominal distention, Rickets |
OMIM:227810 |
Bazex-Dupre-Christol Syndrome |
|
Joint hypermobility, Furrowed tongue |
OMIM:301845 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Vomiting |
ORPHA:247257 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Nonproductive cough, Dyspnea, X... |
ORPHA:85443 |
Witteveen-Kolk Syndrome |
|
Microretrognathia, Frontal bossing, Wide nose, Inguinal hernia, Anteverted nares, Prominent nasal... |
OMIM:613406 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Peritonitis, Osteolysis, Vomiting, Cough... |
ORPHA:1546 |
Plague |
|
Respiratory distress, Chapped lip, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Abnormality o... |
ORPHA:707 |
Acrodermatitis Enteropathica |
|
Anorexia, Malabsorption, Poor appetite, Chronic diarrhea, Cheilitis, Abnormality of the tongue, F... |
ORPHA:37 |
Malignant Hyperthermia Of Anesthesia |
|
Supraventricular tachycardia, High-output congestive heart failure, Ventricular tachycardia, Prem... |
ORPHA:423 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Inguinal hernia, Depressed nasal bridge, Congenital diaphragmatic h... |
OMIM:614437 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion, Hepatic failure |
ORPHA:292 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Bilateral cryptorchidism, Congestive heart failure, Micropenis, Right bundle branch block, Hypert... |
OMIM:617403 |
2Q37 Microdeletion Syndrome |
|
Conductive hearing impairment, Attention deficit hyperactivity disorder, Abnormal repetitive mann... |
ORPHA:1001 |
Isolated Arrhinia |
|
Respiratory distress, Hypoplasia of the nasal bone, Absent nasal septal cartilage |
ORPHA:1134 |
Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Tongue fasciculations, Dysphagia |
OMIM:614153 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Low-set ears, Attention ... |
OMIM:619575 |
Ogden Syndrome |
|
Microretrognathia, Inguinal hernia, Depressed nasal bridge, Micrognathia, Underdeveloped nasal al... |
OMIM:300855 |
Psoriasis 14, Pustular |
|
Oligoarthritis, Polyarticular arthritis, Geographic tongue, Furrowed tongue |
OMIM:614204 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Osteomyelitis, Duodenal ulcer, Gastritis, Anorexia, Abdominal pain, Osteomalacia... |
OMIM:619381 |
Rodrigues Blindness |
|
Tooth malposition, Nasal flaring |
OMIM:268320 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Abnormal repetitive mannerisms, Macrotia, Ataxia, Dysphagia |
ORPHA:496641 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Inguinal hernia, Choanal atresia, Broad nasal tip, Hypoplasia of... |
OMIM:129900 |
Pitt-Hopkins Syndrome |
|
Cupped ear, Gait ataxia, Self-injurious behavior, Thickened helices, Abnormal repetitive mannerisms |
OMIM:610954 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Craniosynostosis, Oral mucosal blisters, Feeding difficulties, Palmoplantar keratoderma, Smooth t... |
ORPHA:79396 |
Hereditary Folate Malabsorption |
|
Nausea and vomiting, Anorexia, Diarrhea, Cheilitis, Gastroesophageal reflux, Glossitis |
ORPHA:90045 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
ORPHA:73224 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Short nose, Epistaxis |
OMIM:277450 |
Scimitar Syndrome |
|
Heart block, Congestive heart failure, Left-to-right shunt, Pulmonary arterial hypertension |
ORPHA:185 |
Pilarowski-Bjornsson Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:617682 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation |
ORPHA:168829 |
Kawasaki Disease |
|
Pericarditis, Myocarditis, Congestive heart failure, Vasculitis, Arrhythmia |
ORPHA:2331 |
Nephrotic Syndrome, Type 1 |
|
Pyloric stenosis, Neonatal respiratory distress, Gastroesophageal reflux, Abdominal distention |
OMIM:256300 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Abdominal pain, Hematemesis, Dyspnea, Diarrhea, Melen... |
ORPHA:340 |
Holoprosencephaly 2 |
|
Aplasia of the premaxilla, Submucous cleft hard palate, Absent nasal septal cartilage, Bilateral ... |
OMIM:157170 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Small for gestational age, Short nose, Depressed nasal bridge, Convex nasal ridge |
OMIM:300661 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Proximal muscle weakness in upper limbs, Abdominal pain, Abdominal distentio... |
ORPHA:79276 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy |
ORPHA:103910 |
Developmental And Epileptic Encephalopathy 31B |
|
Protruding tongue, Gingival overgrowth, Feeding difficulties, Constipation, Tube feeding |
OMIM:620352 |
Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Abnormality of primary teeth, Agenesis of pe... |
OMIM:257980 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:98784 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormality of dental color, Cranial asymmetry |
OMIM:163200 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... |
OMIM:270420 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Bowing of the legs, Gastrointestinal stroma tumor, Kyphosis, Osteoporosis, Osteolysis... |
ORPHA:97685 |
Distal Renal Tubular Acidosis |
|
Osteomalacia, Poor appetite, Respiratory insufficiency due to muscle weakness, Diarrhea, Rickets,... |
ORPHA:18 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets |
OMIM:616026 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Feeding difficulties in infancy, Submucous cleft hard palate, Flexion contracture, Ankle clonus, ... |
OMIM:618891 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Elbow flexion contracture, Knee flexion contracture, Furrowed tongue, Microdontia, Pes cavus, Ora... |
OMIM:148210 |
Dend Syndrome |
|
Short nose, Anteverted nares |
ORPHA:79134 |
Lathosterolosis |
|
Anteverted nares, Microcephaly, Micrognathia, Wide nasal bridge, Short nose |
OMIM:607330 |
Necrotizing Enterocolitis |
|
Apnea, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting |
ORPHA:391673 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Broad-based gait, Hyperactivity, Ataxia, Posteriorly rotated ears, Aggressive behavior... |
OMIM:614756 |
Methylmalonic Aciduria, Cblb Type |
|
Feeding difficulties in infancy, Vomiting, Respiratory distress |
OMIM:251110 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... |
OMIM:277320 |
Juvenile Sialidosis Type 2 |
|
Abnormal form of the vertebral bodies, Gingival overgrowth, Dysphagia, Protruding tongue |
ORPHA:93399 |
Nocardiosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Anorexia, Productive cough, Nonproductive cough, ... |
ORPHA:31204 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Congestive heart failure, Arterial rupture |
OMIM:225400 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Omphalocele, Inguinal hernia, Anteverted nares, Camptodactyly of finger, C... |
ORPHA:373 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal distention, V... |
OMIM:613070 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Angina pectoris, Low-output congestive heart failure, Cardiomyopathy, Palpitations, Arrhythmia |
ORPHA:565612 |
Lymphatic Malformation 7 |
|
Respiratory distress, Abdominal distention, Pleural effusion, Chylothorax |
OMIM:617300 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Erythematous oral mucosa, Chronic diarrhea, Recurrent pneumonia, Furrowed tongue, Mele... |
OMIM:158310 |
Menke-Hennekam Syndrome 1 |
|
Narrow nasal bridge, Inguinal hernia, Anteverted nares, Depressed nasal bridge, Micrognathia, Und... |
OMIM:618332 |
Peroxisome Biogenesis Disorder 4B |
|
Short nose, Macrocephaly |
OMIM:614863 |
Q Fever |
|
Respiratory distress, Osteomyelitis, Pneumonia, Anorexia, Cough, Pleural effusion |
ORPHA:781 |
Developmental And Epileptic Encephalopathy 2 |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:300672 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Erosion of oral mucosa, Foot joint contracture, Anal fissure, Oral mucosal blisters, ... |
ORPHA:79408 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Glossitis, Cleft palate, Feeding difficulties |
ORPHA:79284 |
Methylmalonic Aciduria, Cbla Type |
|
Feeding difficulties in infancy, Vomiting, Respiratory distress |
OMIM:251100 |
Van Esch-O'Driscoll Syndrome |
|
Short nose, Retrognathia, Depressed nasal bridge, Microcephaly |
OMIM:301030 |
Oculogastrointestinal Muscular Dystrophy |
|
Spontaneous esophageal perforation, Gastroparesis, Intestinal pseudo-obstruction, Malabsorption, ... |
ORPHA:1876 |
Dominant Beta-Thalassemia |
|
High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy |
ORPHA:231226 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Pes planus, Micrognathia, Pectus excavatum, Supernumerary tooth, Osteoporosis, Pectus carinatum, ... |
OMIM:619525 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Omphalocele, Retrognathia, Brachycephaly, Micrognathia |
OMIM:265380 |
Spinocerebellar Ataxia Type 7 |
|
Congestive heart failure |
ORPHA:94147 |
Abetalipoproteinemia |
|
Congestive heart failure |
ORPHA:14 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Peptic ulcer, Osteomalacia |
OMIM:600740 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Intestinal malrotation, Feeding difficulties, Cervical ribs, Intermittent d... |
ORPHA:2255 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive... |
OMIM:187300 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Chronic constipation, Ankyloglossia, Scoliosis |
OMIM:619352 |
Letterer-Siwe Disease |
|
Stomatitis, Abdominal distention, Dyspnea |
OMIM:246400 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Congestive heart failure |
OMIM:617156 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P... |
ORPHA:95455 |
Carney Complex |
|
Ovarian dermoid cyst, Sertoli cell neoplasm, Testicular neoplasm, Precocious puberty, Congestive ... |
ORPHA:1359 |
Scalp-Ear-Nipple Syndrome |
|
Supraventricular tachycardia, Hypertension, Congestive heart failure |
OMIM:181270 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Abdominal distention, Diarrhea, Dyspnea, Episodic abdominal pain, Bronchospasm, Nausea |
ORPHA:100085 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain |
ORPHA:83469 |
Hartnup Disease |
|
Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Abnormal stomach morphology, Neonatal asphyxia, Dyspnea, Wheezing, Tracheoe... |
ORPHA:141127 |
Deeah Syndrome |
|
Prominent nasal tip, Short nose, Retrognathia, Decreased body weight |
OMIM:619004 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Congestive heart failure, Abnormal cardiac ventricular function, Supravalvular aortic stenosis |
ORPHA:90349 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis, Pulmonary arteri... |
ORPHA:2396 |
Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Aganglionic megacolon, Kyphoscoliosis, Hyperlordosis, Abdominal distention, Abnorma... |
ORPHA:653 |
Primary Sclerosing Cholangitis |
|
Portal hypertension, Congestive heart failure, Palmar telangiectasia, Spider hemangioma |
ORPHA:171 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Brachycephaly, Cachexia |
ORPHA:2072 |
Peritoneal Cystic Mesothelioma |
|
Abdominal distention, Peritonitis, Constipation, Abdominal pain |
ORPHA:168816 |
Imerslund-Gräsbeck Syndrome |
|
Angular cheilitis, Poor appetite, Constipation, Vomiting, Glossitis |
ORPHA:35858 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Pectus excavatum, Pyloric stenosis, Abdominal d... |
OMIM:235730 |
Castleman Disease |
|
Nausea and vomiting, Myelofibrosis, Intestinal obstruction, Abdominal pain, Abdominal distention,... |
ORPHA:160 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Thyroid Hypoplasia |
|
Macroglossia, Constipation, Abdominal distention |
ORPHA:95720 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Protruding ear, Low-set ears, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:447997 |
Microsporidiosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Anorexia, Abdominal pain, Peritonitis, Chronic diarrhea, Rhi... |
ORPHA:2552 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Congestive heart failure, Pulmonary arterial hypertension, Renovascular hypertension |
ORPHA:391487 |
Williams Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Sudden cardiac death, Myocardial infarction, ... |
ORPHA:904 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Anteverted nares, Microcephaly, Hiatus hernia, Lipoma |
OMIM:304050 |
Ovarian Fibrothecoma |
|
Abdominal distention, Peritonitis, Pleural effusion, Abdominal pain |
ORPHA:314478 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Syndactyly, Postaxial polydactyly, Abdominal distention, Asthma, Broad first metatars... |
OMIM:619534 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nausea and vomiting, Oral mucosal blisters, Abdominal distention, Congenital pyloric atresia, Pte... |
ORPHA:79403 |
Floating-Harbor Syndrome |
|
Narrow nasal bridge, Small for gestational age, Broad nasal tip, Hypoplasia of the maxilla, Cario... |
ORPHA:2044 |
Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Abnormal thoracic spine morphology, Anorexia, Abdominal distention, Episodic... |
ORPHA:370348 |
Melkersson-Rosenthal Syndrome |
|
Macroglossia, Cheilitis, Furrowed tongue |
ORPHA:2483 |
Beta-Thalassemia Major |
|
High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy |
ORPHA:231214 |
Toriello-Carey Syndrome |
|
Short nose, Microcephaly, Micrognathia |
ORPHA:3338 |
Peters-Plus Syndrome |
|
Frontal bossing, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Agenesi... |
OMIM:261540 |
Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption |
ORPHA:71 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
Marfan Syndrome |
|
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Tricuspid regurgitation |
OMIM:154700 |
X-Linked Dystonia-Parkinsonism |
|
Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue |
ORPHA:53351 |
Neutral Lipid Storage Myopathy |
|
Cardiomyopathy, Congestive heart failure |
ORPHA:98908 |
Currarino Syndrome |
|
Absence of the sacrum, Anal stenosis, Hemisacrum, Perianal abscess, Gastrointestinal obstruction,... |
OMIM:176450 |
Dyskeratosis Congenita |
|
Hypoplasia of the maxilla, Taurodontia, Carious teeth |
ORPHA:1775 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Dyspnea, Episodic respiratory distress, Dysphagia, Hepatic failure, Episodic vomiting, Hyp... |
ORPHA:255210 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Abnormal nasopharynx morphology, Choanal atresia, Hypoplasia of the maxilla, Carious teeth, Depre... |
OMIM:604292 |
Glucagonoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97280 |
Gitelman Syndrome |
|
Nausea and vomiting, Respiratory distress, Abdominal pain, Diarrhea, Gout, Constipation, Chondroc... |
ORPHA:358 |
Inflammatory Pseudotumor Of The Liver |
|
Abdominal distention, Vomiting, Nausea, Abdominal pain |
ORPHA:90003 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... |
OMIM:155310 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:601992 |
Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Diarrh... |
ORPHA:275761 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Abdominal distention |
OMIM:618528 |
Williams-Beuren Syndrome |
|
Inguinal hernia, Anteverted nares, Depressed nasal bridge, Failure to thrive in infancy, Broad na... |
OMIM:194050 |
Gonadoblastoma |
|
Abdominal distention, Abdominal pain |
ORPHA:206484 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Low-set ears, Overfolded helix, Abnormal repetitive mannerisms, Difficulty walking |
OMIM:618653 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Congestive heart failure, Mitral regurgitation |
ORPHA:90348 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Protruding ear, Gait disturbance, Macrotia, Abnormal repetitive mannerisms |
ORPHA:464306 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting |
ORPHA:35710 |
X-Linked Acrogigantism |
|
Diastema, Abdominal distention, Large hands, Long foot |
ORPHA:300373 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormal repetitive mannerisms, Gait disturbance, Attention deficit hyperactivity disorder, Protr... |
ORPHA:464311 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Abdominal distention, Hypopnea, Abdominal pain |
ORPHA:2330 |
Alström Syndrome |
|
Respiratory distress, Pes planus, Abnormality of dental color, Thoracic scoliosis, Kyphosis, Shor... |
ORPHA:64 |
Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis, Esophageal varix, Pulmonary arterial hypertension |
OMIM:215600 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Second degree atrioventricular... |
ORPHA:3385 |
Mucopolysaccharidosis Type 2 |
|
Otosclerosis, Hyperactivity, Impulsivity, Aggressive behavior, Sensorineural hearing impairment, ... |
ORPHA:580 |
Singleton-Merten Syndrome 1 |
|
Hypoplasia of the maxilla, Carious teeth, Eruption failure, Decreased body weight, Hypoplasia of ... |
OMIM:182250 |
Marfan Syndrome |
|
Congestive heart failure |
ORPHA:558 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress |
OMIM:274150 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Anteverted nares, Broad nasal tip, Carious teeth, Long nose, Bulbous nose, Microcephaly, Wide nas... |
OMIM:619522 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastrointestinal tract... |
ORPHA:51890 |
Colonic Atresia |
|
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Microvillus Inclusion Disease |
|
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea |
ORPHA:2290 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Recurrent otitis media, Abnormal repetitive mannerisms, Posteriorly rotated ears, Aggressive beha... |
OMIM:301066 |
Liver Disease, Severe Congenital |
|
Joint laxity, Chronic gastritis, Pneumonia, Micrognathia, Abdominal distention, Diarrhea, Malnutr... |
OMIM:619991 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, Self-injurious behavior, Thin ear helix, Bilateral sensorineur... |
ORPHA:468631 |
Primary Biliary Cholangitis |
|
Celiac disease, Abdominal distention, Osteoporosis, Gastrointestinal inflammation, Hepatic failure |
ORPHA:186 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Tapered finger |
OMIM:618367 |
Infantile Nephropathic Cystinosis |
|
Constipation, Vomiting, Rickets |
ORPHA:411629 |
Polyembryoma |
|
Abdominal distention, Abdominal pain |
ORPHA:180229 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Abdominal distention, Hypoperistalsis |
OMIM:619365 |
Agel Amyloidosis |
|
Tongue atrophy, Xerostomia |
ORPHA:85448 |
Parkes Weber Syndrome |
|
Bounding pulse, High-output congestive heart failure, Subarachnoid hemorrhage |
ORPHA:90307 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Respiratory acidosis, Narrow chest, Narrow m... |
OMIM:614748 |
Hereditary Fructose Intolerance |
|
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... |
ORPHA:469 |
Ovarian Hyperstimulation Syndrome |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Pleural effusion, Nausea |
ORPHA:64739 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Death in infancy, Intestinal malrotation, Hypoperistalsis, Abdominal distent... |
ORPHA:2241 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Oral mucosal blisters, Abdominal distention, Flexion contracture, Congenital pyloric atresia, Vom... |
ORPHA:158684 |
Familial Hypocalciuric Hypercalcemia |
|
Nausea and vomiting, Osteomalacia, Peptic ulcer, Episodic abdominal pain, Chondrocalcinosis |
ORPHA:405 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
Hereditary Spherocytosis |
|
Abdominal distention, Gout, Abdominal pain |
ORPHA:822 |
Pallister-Killian Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Omphalocele, Inguinal hernia, Anteverted nares, Depre... |
OMIM:601803 |
Geleophysic Dysplasia 2 |
|
Short nose |
OMIM:614185 |
Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Palma... |
OMIM:615726 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:180500 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353281 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death, Abdominal distention, Microcolon |
OMIM:619362 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Feeding difficulties in infancy, Abdominal distention, Stridor, Macroglossia, Constipation |
OMIM:218700 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Ileal atresia, Abdominal distention, Peritoni... |
OMIM:619351 |
Mirizzi Syndrome |
|
Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Vomiting, Nausea |
ORPHA:521219 |
Nmda Receptor Encephalitis |
|
Hypersexuality, Chorea, Choreoathetosis, Agitation, Abnormal repetitive mannerisms |
ORPHA:217253 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Feeding difficulties in infancy, Abdominal distention |
ORPHA:309256 |
Thyroid Ectopia |
|
Macroglossia, Constipation, Abdominal distention |
ORPHA:95712 |
Leptospirosis |
|
Nausea and vomiting, Respiratory distress, Anorexia, Abdominal pain, Diarrhea, Cough, Pleural eff... |
ORPHA:509 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Abnormal repetitive mannerisms, Hearing impairment |
ORPHA:508498 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory failure |
ORPHA:805 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms |
OMIM:616682 |
Metachromatic Leukodystrophy, Adult Form |
|
Abdominal distention, Bowel incontinence |
ORPHA:309271 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abdominal distention |
ORPHA:309263 |
Norrie Disease |
|
Sensorineural hearing impairment, Protruding ear, Abnormal cochlea morphology, Self-injurious beh... |
ORPHA:649 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... |
ORPHA:353277 |
Leprechaunism |
|
Abdominal distention, Rectal prolapse, Megarectum, Large hands, Thick vermilion border, Long foot |
ORPHA:508 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Secretory diarrhea |
OMIM:214700 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Bloody diarrhea, Rectal abs... |
ORPHA:436252 |
Choreoacanthocytosis |
|
Temporomandibular joint crepitus, Equinovarus deformity, Protruding tongue, Peroneal muscle atrop... |
ORPHA:2388 |
Gallbladder Neuroendocrine Tumor |
|
Abdominal distention, Nausea, Anorexia, Episodic abdominal pain |
ORPHA:100086 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... |
ORPHA:99125 |
Pancreatoblastoma |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:677 |
Penile Agenesis |
|
Short nose, Depressed nasal bridge |
ORPHA:49 |
Craniofacial Microsomia 1 |
|
Hypoplasia of the maxilla, Malar flattening, Maxillozygomatic hypoplasia, Micrognathia |
OMIM:164210 |
Atresia Of Urethra |
|
Abdominal distention |
ORPHA:105 |