Cervical Vertebral Bridge |
|
Abnormality of the vertebral column |
OMIM:118000 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... |
OMIM:128980 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, External ear malformation, Conductive hearing impairment, Aplasia/Hypo... |
ORPHA:3232 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid... |
OMIM:184100 |
Smith-Mccort Dysplasia 1 |
|
Barrel-shaped chest, Short metacarpal, Hypoplastic scapulae, Multicentric femoral head ossificati... |
OMIM:607326 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... |
ORPHA:93284 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, K... |
OMIM:313400 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Short neck, Mesomelic/rhizomelic limb shortening, Wide anterior fontanel, A... |
ORPHA:2347 |
Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Recurrent fractures, Pectus excavatum, Osteoporosis, Bell-shaped thorax, Pla... |
OMIM:619131 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Osteopenia, Short metacarpal, Joint laxity, Recurrent fractures, Multiple pr... |
OMIM:610915 |
Spinal Dysplasia, Anhalt Type |
|
Osteoarthritis of the small joints of the hand, Short stature, Thoracolumbar scoliosis, Absent sp... |
OMIM:601344 |
Chst3-Related Skeletal Dysplasia |
|
Barrel-shaped chest, Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Abnormality o... |
ORPHA:263463 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... |
OMIM:271700 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mine... |
OMIM:215140 |
Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondy... |
OMIM:113500 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Barrel... |
ORPHA:94068 |
Smith-Mccort Dysplasia 2 |
|
Barrel-shaped chest, Short metacarpal, Enlarged interphalangeal joints, Short stature, Hyperlordo... |
OMIM:615222 |
Anauxetic Dysplasia 1 |
|
Barrel-shaped chest, Hip contracture, Joint laxity, Lumbar hyperlordosis, Rhizomelia, Severe shor... |
OMIM:607095 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Thoracic kyphosis, Multicentr... |
OMIM:223800 |
Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short ... |
OMIM:183900 |
Vertebral Hypoplasia With Lumbar Kyphosis |
|
Vertebral hypoplasia, Lumbar kyphosis |
OMIM:192900 |
Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Barrel-shaped chest, Hepatomegaly, Shortening of all middle phalanges of the fingers, Short statu... |
OMIM:226980 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Short stature, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Pectus carinatum, Hype... |
OMIM:184255 |
Brachyolmia, Maroteaux Type |
|
Short stature, Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondy... |
ORPHA:93302 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Abnormal acetabulum morphology, Short stature, Splenomegaly, Jaundice, Cholestasis,... |
OMIM:618641 |
Achondrogenesis, Type Ia |
|
Micromelia, Beaded ribs, Short neck, Abnormal hand bone ossification, Narrow chest, Flaring of ri... |
OMIM:200600 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Micromeli... |
ORPHA:2635 |
Gurrieri Syndrome |
|
Decreased anterioposterior diameter of lumbar vertebral bodies, Hypoplastic acetabulae, Short sta... |
OMIM:601187 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c... |
OMIM:178110 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Hepatomegaly, Lumbar hyperlordosis, Micromelia, Short neck, Splenomegaly, Delayed e... |
OMIM:602557 |
Primary Basilar Invagination |
|
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck |
ORPHA:2285 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Short stature, Restricted large joint movement, Disproportionate short-t... |
ORPHA:163665 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis |
OMIM:106400 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Death in infancy, Thickened ribs, Severe short stature, Short neck, Joint stiffness... |
OMIM:230500 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Short stature, Recurrent fractures, Hy... |
ORPHA:1782 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Disproportionate sh... |
OMIM:200610 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Barrel-shaped chest, Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Platyspondyly, S... |
OMIM:612813 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Micrognathia, Increased intervertebral sp... |
OMIM:224300 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... |
ORPHA:168549 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Decreased hip abduction, Disproportionate short-trunk short stature, Pectus... |
OMIM:609223 |
Richieri Costa-Da Silva Syndrome |
|
Joint dislocation, Short stature, Kyphoscoliosis, Short neck, Limitation of joint mobility, Verte... |
ORPHA:3101 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Dispropor... |
OMIM:271530 |
Opsismodysplasia |
|
Hepatomegaly, Abnormally ossified vertebrae, Severe short stature, Joint stiffness, Pectus excava... |
ORPHA:2746 |
Osteogenesis Imperfecta, Type Xvi |
|
Multiple rib fractures, Wormian bones, Short stature, Rhizomelia, Beaded ribs, Platyspondyly, Nar... |
OMIM:616229 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Severe short stature, Hyperlordosis, Short neck, Premature osteoarthritis, Disproportionate short... |
ORPHA:93352 |
Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Short stature, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular v... |
OMIM:604864 |
Fucosidosis |
|
Barrel-shaped chest, Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Absent/hypoplast... |
OMIM:230000 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Joint stiffness, Splenomegaly, Hypoplastic vertebral bodies, Platyspondyly, Limb un... |
OMIM:230600 |
Autosomal Dominant Brachyolmia |
|
Short stature, Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly |
ORPHA:93304 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Cholesteatoma |
OMIM:614113 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Barrel-shaped chest, Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Mesomelia |
ORPHA:171866 |
Fibrochondrogenesis 1 |
|
Short neck, Short palm, Widely patent sagittal suture, Posterior vertebral hypoplasia, Rhizomelia... |
OMIM:228520 |
Greenberg Dysplasia |
|
Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathi... |
ORPHA:1426 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Short stature, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the... |
ORPHA:2916 |
Osteogenesis Imperfecta, Type Xx |
|
Posteriorly rotated ears, Kyphoscoliosis, Narrow palate, Asymmetry of the thorax, High palate, Na... |
OMIM:618644 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Advanced ossification of carpal bones, Flat acetabular roof, Vertebral wedging, Platyspondyly, Sh... |
OMIM:617719 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Barrel-shaped chest, Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Autoimmune thrombocytop... |
OMIM:607944 |
Osteogenesis Imperfecta, Type Xi |
|
Short stature, Protrusio acetabuli, Kyphoscoliosis, Vertebral wedging, Biconcave vertebral bodies... |
OMIM:610968 |
Geroderma Osteodysplastica |
|
Severe short stature, Vertebral compression fracture, Hip dislocation, Abnormal form of the verte... |
ORPHA:2078 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Short stature, Reduced bone mineral density, Platyspondyly, Delayed ossification of carpal bones,... |
OMIM:617974 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Short stature, Kyphoscoliosis, Joint stiffness, Vertebral wedging, Platyspondyly, Bea... |
OMIM:616583 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Hypoplastic vertebral bodies, Coronal craniosynostosis, Lambdoidal craniosynostosis, Short distal... |
OMIM:601370 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Short stature, Kyphoscoliosis, Osteoarthritis, Generalized jo... |
ORPHA:85198 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Anterior rib cupping, Short neck, Hypoplasia of the odontoid proces... |
OMIM:258480 |
Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Thoracic scoliosis, Short stature, Rhizomelia, Pyloric stenosis, Thin rib... |
OMIM:613848 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus... |
OMIM:259440 |
Anauxetic Dysplasia 2 |
|
Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Hyperlordos... |
OMIM:617396 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Short stature, Splenomegaly, Disproportionate short-trunk short... |
OMIM:602271 |
Odontoid Hypoplasia |
|
Hypoplasia of the odontoid process, Atlantoaxial instability, Cervical instability, Dystopic os o... |
OMIM:613628 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Severe short stature, Ovoid vertebral bodies, Enlargement of the costochondral junction, Flat ace... |
OMIM:609052 |
Spondylocamptodactyly Syndrome |
|
Platyspondyly, Scoliosis |
ORPHA:3180 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Genu varum, Proportionate short stature, Genu valgum |
OMIM:608361 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Barrel-shaped chest, Osteopenia, Increased bone mineral density, Short humerus, Short stature, Re... |
OMIM:239000 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Short stature, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulnar sy... |
ORPHA:3268 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Severe short stature, Protrusio acetabuli, Short toe, Knee osteoarthritis, Limitation... |
ORPHA:2619 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short stature, Precocious cost... |
OMIM:271630 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Severe short stature, Micromelia, Limitation of joint mobility, Platyspondyly, Flared, irregular ... |
ORPHA:168555 |
Atelosteogenesis, Type I |
|
Short neck, Micrognathia, Short metatarsal, Knee dislocation, Narrow chest, Neonatal death, Verte... |
OMIM:108720 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment |
OMIM:251800 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... |
ORPHA:79345 |
Osteogenesis Imperfecta, Type Vi |
|
Beaking of vertebral bodies, Vertebral compression fracture, Protrusio acetabuli, Biconcave verte... |
OMIM:613982 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Overfolded helix, Abnormal antihelix morphology, Large earlobe, Microtia, Atresia ... |
ORPHA:79113 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis |
OMIM:184460 |
Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Os... |
OMIM:259770 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Micrognathia, Short neck, Dyspnea, Respiratory failure, Mandibular aplasia,... |
ORPHA:1832 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... |
OMIM:143095 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Pectus carinatum, Reduced bone mineral density, Iron deficiency anemia, Abnormal bone... |
ORPHA:93315 |
Symphalangism, Proximal, 1A |
|
Conductive hearing impairment, Stapes ankylosis |
OMIM:185800 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormality of the knee, Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morp... |
ORPHA:99642 |
Cervical Vertebrae, Agenesis Of |
|
Cervical vertebral agenesis |
OMIM:214290 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Severe short stature, ... |
OMIM:313420 |
Mycetoma |
|
Back pain, Abnormality of the knee, Abnormal thorax morphology, Abnormality of the lymphatic syst... |
ORPHA:2583 |
Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Wide cranial sutures, Death in infancy, Short stature, Protrusio acetabul... |
OMIM:610682 |
Spondylosis, Cervical |
|
Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis |
OMIM:184300 |
Perching Syndrome |
|
Respiratory distress, High palate, Scoliosis |
OMIM:617055 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Osteoarthritis, Delayed epiphyseal ossification, Gene... |
ORPHA:750 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of... |
ORPHA:628 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral s... |
OMIM:256050 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Disproportionate short stature,... |
ORPHA:40 |
Metatropic Dysplasia |
|
Enlarged joints, Flexion contracture, Long coccyx, Narrow chest, Flaring of rib cage, Anisospondy... |
OMIM:156530 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Abnormal pinna morphology, Short stature, Kyphoscoliosis, Short neck, Pectus excavatum, High, nar... |
OMIM:309583 |
Pyle Disease |
|
Abnormal thorax morphology, Hypoplastic frontal sinuses, Genu valgum, Reduced bone mineral densit... |
OMIM:265900 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp... |
OMIM:259450 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Mild postnatal growth retardation, Short stature, Neonatal epiphyseal stippling... |
OMIM:101800 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Increased intervertebral space, Delayed epiphyseal ossification, Short metatarsal, Pectus carinat... |
ORPHA:93314 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Hypoplastic vertebral bodies, Short stature, Craniosynostosis, Short distal phalanx of finger |
ORPHA:2163 |
Scarf Syndrome |
|
Barrel-shaped chest, Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Short s... |
OMIM:312830 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Hyperextensibility at elbow, Short stature, ... |
OMIM:610967 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Kyphosis, Osteoarthritis, Thrombocytopenia, Splenomega... |
ORPHA:77259 |
Myasthenic Syndrome, Congenital, 19 |
|
Barrel-shaped chest, Spinal rigidity, Micrognathia, Distal joint laxity, Pectus carinatum |
OMIM:616720 |
Mucopolysaccharidosis, Type Iiid |
|
Hepatomegaly, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short stature, Short neck, Joi... |
OMIM:252940 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Irregularity of vertebral bodies, Short stature, Genu valgum, Platyspondyly, Short femoral neck |
OMIM:609324 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Proportionate short stature, Micromelia, Osteoarthritis, Short thorax, Platyspondyly |
ORPHA:93283 |
Brachyolmia Type 2 |
|
Platyspondyly, Short stature |
OMIM:613678 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decrea... |
ORPHA:93311 |
Diaphanospondylodysostosis |
|
Short neck, Missing ribs, Short thorax, Enlarged thorax, Absent or minimally ossified vertebral b... |
ORPHA:66637 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Biconcave vertebral bodies, Wormian bones, Umbilical hernia, Vertebral compression fra... |
OMIM:617952 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Galactosialidosis |
|
Abnormality of the vertebral column, Abnormal vertebral morphology |
ORPHA:351 |
Caudal Regression Syndrome |
|
Missing ribs, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Sc... |
ORPHA:3027 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia... |
ORPHA:210122 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Wrist swelling, Abnormal shoulder morphology, Irregular vertebr... |
ORPHA:1159 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Platyspondyly, Anterior beaking of lumbar vertebrae |
OMIM:271620 |
Branchiootic Syndrome |
|
Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the external auditory ... |
ORPHA:52429 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Postnatal growth retardation, Platyspondyly, Scoliosis, Genu varum |
OMIM:618728 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of the costochondral junc... |
OMIM:271650 |
Gm1 Gangliosidosis Type 1 |
|
Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Hepatosplenomegaly, Platyspondyly... |
ORPHA:79255 |
Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Disproportionate short stature,... |
ORPHA:1354 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Short stature, Elbow dislocation, Advanced ossification of carpal bones, Knee dislo... |
OMIM:620269 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
Geroderma Osteodysplasticum |
|
Severe short stature, Kyphoscoliosis, Vertebral compression fracture, Irregular vertebral endplat... |
OMIM:231070 |
Paternal Uniparental Disomy Of Chromosome X |
|
Short metacarpal, Short stature, Short neck, Shield chest, Cubitus valgus |
ORPHA:261524 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Scoliosis, Neonatal death, Pulmonary arte... |
OMIM:619751 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Micromelia, Short neck, Lateral clavicle hook, Abnormal form of the vertebr... |
ORPHA:3144 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Short stature, Hypoplasia of the odontoid process, Small hand, ... |
ORPHA:85172 |
Congenital Disorder Of Glycosylation, Type Iy |
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Joint dislocation, Respiratory distress, Scoliosis, Micrognathia |
OMIM:300934 |
Cole-Carpenter Syndrome 1 |
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Short stature, Coronal craniosynostosis, Scoliosis, Wormian bones, Vertebral compression fracture... |
OMIM:112240 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
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Short stature, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures, Platys... |
OMIM:156510 |
Idiopathic Juvenile Osteoporosis |
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Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
Mosaic Trisomy 9 |
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Camptodactyly of finger, Spina bifida, Short neck, Elbow dislocation, Asplenia, Intestinal malrot... |
ORPHA:99776 |
Morquio Syndrome C |
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Platyspondyly, Severe short stature |
OMIM:252300 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2 |
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Pectus excavatum, Thoracic scoliosis, Shield chest, Short neck |
OMIM:616994 |
Gaucher Disease, Type I |
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Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Vertebral compression fracture, ... |
OMIM:230800 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
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Respiratory distress, Kyphoscoliosis |
OMIM:619099 |
Hajdu-Cheney Syndrome |
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Wormian bones, Short stature, Intestinal malrotation, Kyphoscoliosis, Short neck, Cryptorchidism,... |
OMIM:102500 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
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Increased bone mineral density, Ovoid vertebral bodies, Short neck, Micrognathia, Wide anterior f... |
ORPHA:163649 |
Sweeney-Cox Syndrome |
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Prominent metopic ridge, Uplifted earlobe, Asplenia, Wide anterior fontanel, Velopharyngeal insuf... |
OMIM:617746 |
Multiple Sulfatase Deficiency |
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Hypoplastic vertebral bodies, Hepatomegaly, Short stature, Splenomegaly |
OMIM:272200 |
Paget Disease Of Bone 2, Early-Onset |
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Sandwich appearance of vertebral bodies, Vertebral compression fracture, Bilateral conductive hea... |
OMIM:602080 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
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Enlarged joints, Short stature, Pectus excavatum, Delayed epiphyseal ossification, Genu valgum, A... |
ORPHA:166024 |
Neurogenic Arthrogryposis Multiplex Congenita |
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Respiratory distress, Hip contracture, Ankle flexion contracture, Micrognathia, Respiratory insuf... |
ORPHA:1143 |
Congenital Myopathy 10A, Severe Variant |
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Respiratory distress, Camptodactyly of finger, Cleft palate, Respiratory insufficiency, Restricti... |
OMIM:614399 |
Pseudodiastrophic Dysplasia |
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Rhizomelia, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Scoliosis |
ORPHA:85174 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Kyphosis, Platyspondyly, Osteoporosis, Short stature |
ORPHA:2786 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal rib morphology,... |
ORPHA:93351 |
Spondyloocular Syndrome |
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Posteriorly rotated ears, Duodenal ulcer, Short stature, Unilateral cryptorchidism, Sensorineural... |
OMIM:605822 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
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Platyspondyly, Genu valgum |
OMIM:184095 |
Hypoglossia With Situs Inversus |
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Respiratory distress, Micrognathia, Asplenia, Upper airway obstruction, High palate, Polysplenia,... |
OMIM:612776 |
Anauxetic Dysplasia 3 |
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Short metacarpal, Severe short stature, Thoracolumbar kyphoscoliosis, Pectus excavatum, Wide ante... |
OMIM:618853 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
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Joint laxity, Hypoplasia of the ulna, Short stature, Short neck, Multiple joint dislocation, Hip ... |
OMIM:618395 |
Second Metatarsal-Metacarpal Syndrome |
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Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
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Micrognathia, Abnormal vertebral morphology, Short stature, Short neck |
ORPHA:2015 |
Odontochondrodysplasia |
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Delayed eruption of teeth, Death in infancy, Respiratory distress, Platyspondyly, Scoliosis, Retr... |
ORPHA:166272 |
Branchiogenic Deafness Syndrome |
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Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... |
ORPHA:50815 |
Legg-Calvé-Perthes Disease |
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Cartilage destruction, Short stature, Joint dislocation |
ORPHA:2380 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
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Short stature, Kyphoscoliosis, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Lo... |
OMIM:612847 |
Osteogenesis Imperfecta, Type Xvii |
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Short stature, Kyphoscoliosis, Hearing abnormality, Hip dislocation, Platyspondyly, Vertebral com... |
OMIM:616507 |
Chromosome 18P Deletion Syndrome |
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Barrel-shaped chest, Micrognathia, Short stature, Short neck |
OMIM:146390 |
Congenital Disorder Of Glycosylation, Type Iu |
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Respiratory distress, Death in infancy, Neonatal respiratory distress, Micrognathia, High palate,... |
OMIM:615042 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Small cervical vertebral bodies, Long clavicles, Abnormal acetabulum morphology, Short stature, M... |
ORPHA:397715 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
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Hip contracture, Wide cranial sutures, Short stature, Interphalangeal joint contracture of finger... |
OMIM:259600 |
Ollier Disease |
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Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... |
ORPHA:296 |
Autosomal Dominant Spondylocostal Dysostosis |
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Severe short stature, Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short ... |
ORPHA:1797 |
Pseudodiastrophic Dysplasia |
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Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Severe short stature, Short neck, Micro... |
OMIM:264180 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
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Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Knee flexion contracture... |
OMIM:620232 |
Osteogenesis Imperfecta, Type Xiii |
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Increased bone mineral density, Short stature, Recurrent fractures, Kyphoscoliosis, Osteoporosis,... |
OMIM:614856 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
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Hip osteoarthritis, Platyspondyly, Osteoarthritis, Short stature |
OMIM:271600 |
Dental Anomalies And Short Stature |
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Mandibular prognathia, Hypoplasia of the maxilla, Platyspondyly, Herniation of intervertebral nuc... |
OMIM:601216 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Foot oligodac... |
OMIM:276820 |
Branchiogenic-Deafness Syndrome |
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Mixed hearing impairment, Sensorineural hearing impairment, Atresia of the external auditory cana... |
OMIM:609166 |
Cardiofacioneurodevelopmental Syndrome |
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Micrognathia, Asplenia, Kyphosis, Cleft palate, Abdominal situs inversus |
OMIM:619123 |
Rhizomelic Dysplasia, Ain-Naz Type |
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Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Severe short stature, Lim... |
OMIM:619598 |
Acrocraniofacial Dysostosis |
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Low-set, posteriorly rotated ears, Abnormal pinna morphology, Short stature, Craniosynostosis, Ab... |
ORPHA:949 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
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Back pain, Vertebral fusion, Death in infancy, Severe short stature, Block vertebrae, Abnormal od... |
OMIM:277300 |
Osteogenesis Imperfecta, Type Xv |
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Short stature, Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fra... |
OMIM:615220 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
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Wormian bones, Shortening of all metacarpals, Wide anterior fontanel, Platyspondyly, Mesomelia, L... |
OMIM:601356 |
Osteogenesis Imperfecta |
|
Cervical kyphosis, Osteoarthritis, Abnormal form of the vertebral bodies, Pectus carinatum, Narro... |
ORPHA:666 |
Isolated Congenital Hypoglossia/Aglossia |
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Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Upper airway obst... |
ORPHA:141152 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
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Vertebral segmentation defect, Vertebral clefting, Hemivertebrae, Short neck |
OMIM:608681 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Joint stiffness, Thrombocytopenia, Flexion... |
ORPHA:505248 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
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Respiratory distress, Kyphoscoliosis |
OMIM:617977 |
Kyphomelic Dysplasia |
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Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, Micrognathia, Joint stiffn... |
ORPHA:1801 |
Maternal Uniparental Disomy Of Chromosome X |
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Short stature, Camptodactyly of finger, Short neck, Flexion contracture, Shield chest, Scoliosis,... |
ORPHA:261519 |
Odontochondrodysplasia 1 |
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Death in infancy, Biconvex vertebral bodies, Short metacarpal, Genu recurvatum, Short stature, Mi... |
OMIM:184260 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
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Lumbar hyperlordosis, Cupped ribs, Disproportionate short stature, Mesomelic arm shortening, Flat... |
OMIM:609616 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
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Severe short stature, Anterior rib cupping, Hyperlordosis, Hypoplasia of the odontoid process, Pe... |
OMIM:184250 |
Fibrodysplasia Ossificans Progressiva |
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Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification in ligament tis... |
ORPHA:337 |
Gm1-Gangliosidosis, Type Iii |
|
Short stature, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypoplas... |
OMIM:230650 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
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Short stature, Short neck, Pectus excavatum, Short thorax, Cuboid-shaped vertebral bodies, Rhizo-... |
ORPHA:163654 |
Multiple Epiphyseal Dysplasia, Beighton Type |
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Low back pain, Thoracic scoliosis, Abnormal acetabulum morphology, Short stature, Joint stiffness... |
ORPHA:166011 |
Saul-Wilson Syndrome |
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Short metacarpal, Short stature, Micrognathia, Pectus excavatum, Hypoplasia of the odontoid proce... |
OMIM:618150 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Elbow flexion co... |
OMIM:184252 |
Endosteal Hyperostosis, Worth Type |
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Sclerotic vertebral body, Sensorineural hearing impairment, Abnormal rib morphology, Abnormal for... |
ORPHA:2790 |
3M Syndrome |
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Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Short stature, Micromelia, ... |
ORPHA:2616 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
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Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... |
OMIM:606842 |
Sillence Syndrome |
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Back pain, Slender build, Flat acetabular roof, Platyspondyly, Short middle phalanx of finger, Sc... |
ORPHA:3168 |
Gracile Bone Dysplasia |
|
Death in infancy, Short stature, Asplenia, Thin ribs, Hypoplastic spleen, Decreased skull ossific... |
OMIM:602361 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Abno... |
ORPHA:2345 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
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Stapes ankylosis, Short stature, Intestinal malrotation, Velopharyngeal insufficiency, Vertebral ... |
OMIM:614701 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Micrognathia, Carious teeth, Abnormal respiratory system physiolog... |
ORPHA:93346 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Vertebral compression fracture, Pituitary adenoma, Biconcave vertebral bodies |
OMIM:219090 |
Bruck Syndrome 2 |
|
Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Knee flexion contractu... |
OMIM:609220 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
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Respiratory distress, Aplasia/Hypoplasia of the tongue, Missing ribs, Dyspnea, Abnormal rib morph... |
ORPHA:2759 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Platyspondyly, Premature osteoarthritis, Cleft palate |
OMIM:184840 |
Bruck Syndrome |
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Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoli... |
ORPHA:2771 |
Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Spatulate ribs, Osteoarthritis, Delayed epiphyseal ossifi... |
OMIM:177170 |
Fetal Akinesia Deformation Sequence 4 |
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11 pairs of ribs, Short neck, Micrognathia, Kyphosis, High palate, Prenatal death, Neonatal death... |
OMIM:618393 |
Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Short neck, Aplasia/hypoplasia of the extremities, Delayed epiphyse... |
ORPHA:485 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... |
OMIM:269250 |
Lateral Meningocele Syndrome |
|
Prominent metopic ridge, Wormian bones, Posteriorly rotated ears, Hyperlordosis, Pectus excavatum... |
ORPHA:2789 |
Hall-Riggs Syndrome |
|
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Hypoplasia of the primary teet... |
OMIM:234250 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Rhizomelia, Short neck, Micrognathia, Abnormal rib morphology, Plat... |
ORPHA:93267 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Ovoid vertebral bodies, Abnormality of the vertebral endplates, Limited e... |
ORPHA:1856 |
Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Abnormality of the knee, Short stature, Micrognathia, Fractures of the long bones, Os... |
ORPHA:319195 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Micromelia, Pectus excavatum, Limited elbow extensi... |
OMIM:608728 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Atresia of the external audi... |
ORPHA:3236 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Short neck, Anterior beaking of lumbar vertebrae, Flaring of rib cage, Hep... |
OMIM:253000 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Short stature, Anemia |
ORPHA:3204 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Increased intervertebral space, Thoracic platyspondyly, Short ribs, Narrow chest, Death in childh... |
OMIM:618961 |
Costello Syndrome |
|
Barrel-shaped chest, Hyperextensibility of the finger joints, Short stature, Limited elbow moveme... |
OMIM:218040 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, Hypoplastic scapulae, Congenital hip dislocation... |
OMIM:308050 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Wide-cupped costochondral junctions, Platyspondyly,... |
OMIM:187601 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Low-set, posteriorly rotated ears, Abnormal intervertebral disk m... |
ORPHA:2311 |
Autosomal Recessive Stickler Syndrome |
|
Micrognathia, Cleft palate, Genu valgum, Irregular vertebral endplates, Platyspondyly |
ORPHA:250984 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Aplasia/Hypoplasia of the distal p... |
OMIM:113000 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Rhizomelia, Platyspondyly, Thoracic kyphosis, Wormian bones, Short 4th metacarp... |
OMIM:619638 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Short stature, Thin ribs, Platyspondyly, Hypoplasia of the calcaneu... |
OMIM:300863 |
Pseudoaminopterin Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Limited elbow movement, Sagittal craniosynostos... |
ORPHA:221120 |
Bor Syndrome |
|
Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of the cochlea, Atr... |
ORPHA:107 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Platyspondyly, Osteoporosis, Short stature |
ORPHA:71267 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Platyspondyly, Abnormal vertebral epiphy... |
ORPHA:90653 |
Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Enlarged joints, Tracheomalacia, Short neck, Hip dislocati... |
OMIM:156550 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Platyspondyly, Abnormal intervertebral disk morphology, Osteoarthritis, Pulmonary embolism |
ORPHA:1345 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal shoulder morphology, Mesomelia, Long thorax, Micrognathia |
ORPHA:1277 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholelithiasis, Vertebral ... |
OMIM:263700 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Lumbar hyperlordosis, Short stature, Proportionate short stature, Distal tibial bowing, Genu varu... |
OMIM:156500 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Osteopenia, Wide cranial sutures, Short stature, Recurrent fractures, Pectus e... |
OMIM:616294 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Short stature, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increa... |
OMIM:166220 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebrae |
ORPHA:2064 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosi... |
ORPHA:1145 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Stapes ankylosis, Carpal synostosis, Proximal/middle symphalangism ... |
OMIM:186500 |
Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joint stif... |
OMIM:208230 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Recurrent otitis media, Asplenia |
OMIM:618948 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Wide anterio... |
OMIM:259420 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Moderately short stature, Flexion contracture, Platyspondyly, Short femoral neck |
ORPHA:157965 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Short stature, Kyphoscoliosis, Fle... |
ORPHA:35173 |
Hypophosphatasia, Infantile |
|
Death in infancy, Micromelia, Craniosynostosis, Vertebral clefting, Increased susceptibility to f... |
OMIM:241500 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Aplasia/hypoplasia of the extremities, Generalized joint laxity, Multiple joint dislocation, Dela... |
ORPHA:93360 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Flexion contracture, Short metatarsal, Double-layered patella, H... |
ORPHA:93307 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... |
OMIM:608940 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Growth delay... |
OMIM:614034 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Short neck, Cryptorchidism, Abnormal ... |
ORPHA:1703 |
Osteogenesis Imperfecta, Type Ii |
|
Wormian bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Absent ossification... |
OMIM:166210 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Short stature, Camptodactyly of finger, Short neck, Hearing abnormality, Wi... |
ORPHA:2021 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Meckel diverticulum, Neonatal respiratory distress, Intestinal malrotation, Micrognathia, Aspleni... |
OMIM:265380 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Dyspnea, Scoliosis, Cough |
ORPHA:86812 |
Multiple Myeloma |
|
Splenomegaly, Lymphadenopathy, Anemia, Vertebral compression fracture, Tall stature |
ORPHA:29073 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Short stature, Genu valgum, Abnormal rib cage morphology, Long thorax, Disharmonious ... |
OMIM:608154 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Disc-like vertebral bodies, Rhizomelia, Ovoid vertebral bodies, Micromelia, Short neck, Severe li... |
OMIM:151210 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... |
OMIM:208540 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Wormian bones, Posteriorly rotated ears, Short stature, Short neck, Pectus exca... |
OMIM:130720 |
Craniofacioskeletal Syndrome |
|
Barrel-shaped chest, Absent gallbladder, Short stature, Micrognathia, Hypoplastic frontal sinuses... |
OMIM:300712 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short stature, Short neck, Abnormal rib morphology, Vertebral segmentation defect, Hearing impair... |
ORPHA:2578 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Lumbar hyperlordosis, Kyphosis, Wide anterior fontanel, Plat... |
OMIM:616482 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne... |
ORPHA:2549 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... |
OMIM:608022 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Short stature, Micromelia, Short neck, Postnatal growth retardation, Delayed ep... |
OMIM:613320 |
Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lower thoracic vertebrae, Short neck, Joint stiffness, Splenomegaly, Hepatiti... |
ORPHA:584 |
Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Intestinal malrotation, Productive cough, Asplenia, Wheezing, Bron... |
ORPHA:244 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature |
ORPHA:2435 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Absent frontal sinuses, Micrognathia, Pectus carinatum, Decreased skull o... |
ORPHA:955 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Short neck, Osteoarthritis, Short metatarsal, Narrow chest, Genu varum, Micror... |
OMIM:251450 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Short stature, Hyperlordosis, Pectus excavatum, Short neck, Kyphosi... |
ORPHA:2522 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy... |
OMIM:150250 |
Acropectorovertebral Dysplasia |
|
Short thumb, Abnormal thorax morphology, Capitate-hamate fusion, Spina bifida occulta at S1, Spin... |
OMIM:102510 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Severe short stature, Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis |
OMIM:126550 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Tympan... |
OMIM:240300 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Camptodactyly of finger, Missing ribs, Abnormal... |
ORPHA:1488 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Pectus carinatum, Broad ribs, Rhizomelia, Horizontal inferi... |
ORPHA:239 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Short neck, Anteriorly placed anus, High palate, Hepatoblastoma, Br... |
ORPHA:798 |
Atelosteogenesis Type Iii |
|
Absent humerus, Abnormal cervical curvature, Ulnar deviation of the wrist, Epiphyseal stippling o... |
ORPHA:56305 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Short metacarpal, Short stature, Camptodactyly of finger, Kyphoscoliosi... |
OMIM:612350 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
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Multiple joint contractures, Camptodactyly of finger, Micrognathia, Short neck, Limitation of joi... |
ORPHA:2570 |
Monosomy 18P |
|
Short stature, Kyphoscoliosis, Micrognathia, Pectus excavatum, Short neck, Enlarged thorax |
ORPHA:1598 |
Radio-Renal Syndrome |
|
Respiratory distress, Micrognathia, Short neck, High, narrow palate, Dyspnea, Abnormality of the ... |
ORPHA:3015 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Short stature, Missing ribs, Postnatal growth retardation, Rib fusion, Hemivert... |
OMIM:206900 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Lumbar hyperlordosis, Anterior rib cupping, Osteosclerosis of ribs, Irregular vertebral endplates... |
ORPHA:174 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Rhizomelia, Short stature, Micrognathia, Thin ribs, Short foot, Platyspondyly, ... |
ORPHA:163966 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Femoral-Facial Syndrome |
|
Short stature, Cryptorchidism, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, C... |
ORPHA:1988 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hepatomegaly, Posteriorly rotated ears, Short neck, Cryptorchidism, Sensorineural hearing impairm... |
OMIM:618958 |
Mullegama-Klein-Martinez Syndrome |
|
Short stature, Sensorineural hearing impairment, Absent stapes, Cleft palate, Submucous cleft of ... |
OMIM:301022 |
Craniodiaphyseal Dysplasia |
|
Conductive hearing impairment, Stenosis of the external auditory canal, Abnormal rib morphology, ... |
ORPHA:1513 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Narrow chest, Hypoplastic cervical verte... |
ORPHA:56304 |
Thanatophoric Dysplasia Type 1 |
|
Short femur, Micromelia, Joint stiffness, Wide anterior fontanel, Abnormal sacroiliac joint morph... |
ORPHA:1860 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Short stature, Hyperlordosis, Short neck, Kyphosis, Short thorax, Abnormal rib... |
ORPHA:582 |
Eiken Syndrome |
|
Absence of the sacrum, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Short... |
ORPHA:79106 |
Diamond-Blackfan Anemia 1 |
|
Short neck, Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Narrow chest, Neutr... |
OMIM:105650 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Platyspondyly |
OMIM:601438 |
Noonan Syndrome 7 |
|
Short stature, Short neck, Pectus excavatum, Pectus carinatum, Shield chest, Growth delay, Scolio... |
OMIM:613706 |
Spondylo-Ocular Syndrome |
|
Abnormal intervertebral disk morphology, Short stature, Short neck, Osteoporosis, Disproportionat... |
ORPHA:85194 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Short neck, Wide-cupped costochondral junctions, Platyspondyly,... |
OMIM:187600 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Absence of the sacrum, Hepatomegaly, Congenital hip dislocation, Block vert... |
OMIM:306955 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Short stature, Abnormality of the tonsils, Splenomegaly, Limitation of joint mobili... |
ORPHA:93476 |
Thanatophoric Dysplasia |
|
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Short thorax, Joint ... |
ORPHA:2655 |
Stickler Syndrome, Type I |
|
Arthropathy, Micrognathia, Pectus excavatum, Kyphosis, Osteoarthritis, Joint stiffness, Arthritis... |
OMIM:108300 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Short neck, Micrognathia, Pectus carinatum, Knee flexion contracture, Abnormal calcif... |
OMIM:271665 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Death in infancy, Eosinophilia, Kyphoscoliosis, Pectus excavatum, Disproportionate short stature,... |
OMIM:617425 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Short stature, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short metacarpal, Short neck, Pectus excavatum, Anterior scalloping of vertebral bodies, Short to... |
OMIM:611717 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Lumbar hyperlordosis, Congenital hip dislocation, Cervical kyphosis, Shoulder fl... |
OMIM:255800 |
Phaver Syndrome |
|
Posteriorly rotated ears, Camptodactyly of finger, Myelomeningocele, Aplasia/Hypoplasia of the ea... |
ORPHA:2876 |
Atelosteogenesis Type I |
|
Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem... |
ORPHA:1190 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Short stature, Short neck, Missing ribs, Abnormality of the spleen, Abno... |
ORPHA:1834 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati... |
OMIM:615415 |
Fibrochondrogenesis 2 |
|
Micrognathia, Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia |
OMIM:614524 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Multiple rib fractures, Short femur, Wormian bones, Fractured radius, Short neck, Bea... |
OMIM:616897 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Kyphosi... |
OMIM:211530 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Anterior beaking of lumbar ver... |
OMIM:253220 |
Thanatophoric Dysplasia Type 2 |
|
Short stature, Micromelia, Kyphosis, Short thorax, Limitation of joint mobility, Joint hyperflexi... |
ORPHA:93274 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Severe short stature, Missing ribs, Short neck, Hemivertebrae, D... |
OMIM:122600 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Hepatomegaly, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperl... |
OMIM:253010 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Short stature, Short neck, Kyphosis, Cryptorchidism, Aplasia/Hypoplasia of the earlobes, Abnormal... |
ORPHA:3082 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Anal stenosis, Abnormal odontoid process morphology, Block vertebrae, Short sta... |
OMIM:613686 |
Platyspondylic Dysplasia, Torrance Type |
|
Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphology, Genu varum, Short foo... |
ORPHA:85166 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Mixed hearing impairment, Short neck, Sensorineural hearing impairment, Abnormal rib morphology, ... |
OMIM:118100 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Low-set, posteriorly rotated ears, Short stature, Short neck, Abnormality of the elbow, Abnormal ... |
ORPHA:1486 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy |
OMIM:254120 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Occipital encephalocele, Natal tooth, Camptodactyly of finger, Malformation of ... |
OMIM:249000 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Platyspondyly, Flared, irregular rib e... |
OMIM:602111 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short stature, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral... |
ORPHA:2234 |
Desbuquois Dysplasia 2 |
|
Joint laxity, Short metacarpal, Lumbar hyperlordosis, Severe short stature, Short neck, Pectus ex... |
OMIM:615777 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short stature, Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid proce... |
OMIM:300232 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea, Micrognathia, Dental malocclusion, Temporomandibular joint ankylosis... |
OMIM:614669 |
Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Disproportionate short... |
OMIM:619698 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Scoliosis, Thoracic hemivertebrae, Anal atr... |
ORPHA:1436 |
Mesomelic Dysplasia, Kantaputra Type |
|
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral seg... |
ORPHA:1836 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Anteriorly placed anus, Anterior hypopituitarism, Abnormal vertebral mor... |
ORPHA:280195 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Knee flexion contracture, Short 5th metacarpal, Rhizomelia, Thoracolumbar scol... |
OMIM:618019 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, High palate, Scoli... |
ORPHA:2180 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Hepatomegaly, Neutrophilia, Splenomegaly, Joint swelling, Fused cervical ve... |
OMIM:612852 |
Endocrine-Cerebroosteodysplasia |
|
Barrel-shaped chest, Narrow chest, Micromelia, Micrognathia |
OMIM:612651 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Cervical kyphosis, Micrognathia, Delayed epiphyseal ossification, Patellar hy... |
OMIM:114290 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Lumbar hyperlordosis, Enlarged joints, Micrognathia, Premature osteoarthritis, Recurrent pneumoni... |
OMIM:215150 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Kyphoscoliosis, Scoliosis |
ORPHA:37612 |
Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Lumbar hyperlordosis, Enlarged joints, Short neck, Micrognathia, O... |
ORPHA:1427 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Isolated Cleft Lip |
|
Conductive hearing impairment, Chronic otitis media, Abnormal Eustachian tube morphology |
ORPHA:199302 |
Juberg-Hayward Syndrome |
|
Severe short stature, Abnormality of the elbow, Abnormal rib morphology, Anteriorly placed anus, ... |
ORPHA:2319 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Respiratory distress, Neonatal respiratory di... |
OMIM:260400 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Fused cervical vertebrae, Scoliosis, Thoracic hemivertebrae, Anal atresia |
OMIM:309620 |
Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Kyphoscoliosis |
OMIM:612913 |
White Forelock With Malformations |
|
Low-set, posteriorly rotated ears, Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology |
ORPHA:2475 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the knee, Cleft soft palate, Kyphoscoliosis, Micrognathia, Genu valgum, Platyspond... |
ORPHA:93316 |
Mucopolysaccharidosis Type 1 |
|
Joint dislocation, Short stature, Abnormality of the tonsils, Joint stiffness, Splenomegaly, Spin... |
ORPHA:579 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Hepatomegaly, Micrognathia, Dental malocclusion, High palate, Scoliosis |
ORPHA:329178 |
Distal Duplication 6P |
|
Sacral dimple, Short stature, Micrognathia, Short neck, Long thorax, Intrauterine growth retardation |
ORPHA:1745 |
Ciliary Dyskinesia, Primary, 1 |
|
Conductive hearing impairment, Chronic otitis media, Asplenia |
OMIM:244400 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Abnormal rib morphology, Cleft palate, Abnormality of the vertebral column, Conduc... |
OMIM:601076 |
Loeys-Dietz Syndrome 6 |
|
Knee osteoarthritis, Disproportionate tall stature, Scoliosis, Hip osteoarthritis, Intervertebral... |
OMIM:619656 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Lumbar hyperlordosis, Upper airway obstruction, Lumbar ky... |
OMIM:100800 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint laxity, Short stature, Kyphoscoliosis, Pectus excavatum, Hip dislocation, Advan... |
OMIM:615349 |
Leopard Syndrome 3 |
|
Short stature, Short neck, Shield chest, Growth delay, Cubitus valgus |
OMIM:613707 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Death in infancy, Respiratory distress, R... |
OMIM:615512 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Short neck, Glossoptosis, Vertebral segmentation defect, High palate, Conduct... |
OMIM:611209 |
Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Splenomegaly, Disproportionate short-trunk short st... |
ORPHA:583 |
Cantu Syndrome |
|
Ovoid vertebral bodies, Short hallux, Short neck, Cuboid-shaped vertebral bodies, Osteoporosis, P... |
OMIM:239850 |
Noonan Syndrome 13 |
|
Joint laxity, Prominent metopic ridge, Micrognathia, Short neck, Enlarged thorax, Scoliosis, Cubi... |
OMIM:619087 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Lumbar hyperlordosis, Short metacarpal, Rhizomelia, Short stature, Thoracic p... |
OMIM:619636 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Hepatomegaly, Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Decrease... |
OMIM:620076 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Lymphopenia, Recurrent viral pneumonia |
OMIM:619773 |
Craniometadiaphyseal Dysplasia |
|
Short stature, Cubitus valgus, Wide anterior fontanel, Genu valgum, High palate, Low-set ears, Sc... |
OMIM:269300 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Mandibular prognathia, Death in infancy, Thoracic scoliosis, Respiratory distress, Knee contractu... |
OMIM:620278 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Short humerus, Short femur, Short stature, Irregular sclerotic endplates, Kyphoscolio... |
ORPHA:3455 |
Achondrogenesis Type 1B |
|
Severe short stature, Short neck, Short thorax, Abnormal rib morphology, Disproportionate short s... |
ORPHA:93298 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Short stature, Lateral clavicle hook, Trident acetabulum, Narrow chest, Short r... |
OMIM:617405 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Abnormal rib morphology, Tracheoesophag... |
ORPHA:93941 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Micrognathia, Short neck, Wide anterior font... |
OMIM:217980 |
Becker Nevus Syndrome |
|
Supernumerary nipple, Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary rib... |
ORPHA:64755 |
Mosaic Trisomy 8 |
|
Abnormal pinna morphology, Camptodactyly of finger, Short stature, Short neck, Cryptorchidism, Pa... |
ORPHA:96061 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Abnormal sternum morphology, Increased size of n... |
ORPHA:457395 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Short fifth metatarsal, Short sta... |
OMIM:134780 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short fourth metatarsal, Short metacarpal, Short stature, Thoracolumbar scoliosis, Cr... |
OMIM:616723 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Synaptic Congenital Myasthenic Syndromes |
|
Mandibular prognathia, Abnormality of the knee, Respiratory distress, Hypoventilation, Neonatal r... |
ORPHA:98915 |
Tetrasomy 5P |
|
Respiratory distress, Micrognathia, Short neck, Wide anterior fontanel, High palate, Pulmonary ar... |
ORPHA:3309 |
Feingold Syndrome 1 |
|
Accessory spleen, Posteriorly rotated ears, Jejunal atresia, Asplenia, Esophageal atresia, Trache... |
OMIM:164280 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal pinna morphology, Short stature, Hyperlordosis, Abnormal rib morphology, Tracheoesophage... |
ORPHA:3068 |
Lowry-Wood Syndrome |
|
Short stature, Joint stiffness, Elbow dislocation, Platyspondyly, Patellar dislocation, Dislocate... |
ORPHA:1824 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Thoracic kyphoscoliosis, Delayed vertebral ossification, Kyphoscoliosis, Short neck, F... |
OMIM:613330 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Thickened ribs, Splenomegaly, Ovoid thoracolumbar vertebrae, Scoliosis, Umbilical h... |
OMIM:252900 |
Lethal Congenital Contracture Syndrome 1 |
|
Micrognathia, Abnormal thorax morphology, Neonatal death, Arthrogryposis multiplex congenita, Wid... |
OMIM:253310 |
Czech Dysplasia |
|
Short metacarpal, Short toe, Flexion contracture, Short metatarsal, Limitation of joint mobility,... |
OMIM:609162 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Micrognathia, Multiple joint dislocation, High palate, Repeated pneumothora... |
ORPHA:536467 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptib... |
OMIM:166200 |
Gaucher Disease Type 2 |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Cough, Abnormal pattern of respiration |
ORPHA:77260 |
Cushing Disease |
|
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Leukocytosis, Decreased eosinophil cou... |
ORPHA:96253 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Platyspondyly, Abnormal dental enamel morphology, Scoliosis |
ORPHA:2107 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Short neck, Lateral clavicle hook, Wide anterior fontanel, Micrognathia, Fibu... |
OMIM:617925 |
Holzgreve Syndrome |
|
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongu... |
ORPHA:2167 |
Meckel Syndrome |
|
Low-set, posteriorly rotated ears, Accessory spleen, Encephalocele, Pancreatic fibrosis, Aplasia/... |
ORPHA:564 |
Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Short stature, Severe short stature, Short neck, Hyperlor... |
OMIM:612921 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Lumbar hyperlordosis, Rhizomelia, Kyphoscoliosis, Laryngotracheomalacia, Genu valgum,... |
OMIM:271510 |
Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Abnormal intervertebral disk morphology, Osteoarthritis, Arthritis, Joint swel... |
ORPHA:1416 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Posteriorly rotated ears, Intestinal malrotation, Short stature, Asplenia, High palate, Low-set ears |
OMIM:619657 |
Alagille Syndrome |
|
Hepatomegaly, Cryptorchidism, Abnormal rib morphology, Abnormal form of the vertebral bodies, Pro... |
ORPHA:52 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Micrognathia |
OMIM:300580 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Macrocytic anemia, Lumba... |
OMIM:250250 |
Trisomy 13 |
|
Kyphosis, Sensorineural hearing impairment, High, narrow palate, Abnormal rib morphology, Cryptor... |
ORPHA:3378 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Severe short stature, Posteriorly rotated ears, Anisospondyly, Cryptorch... |
OMIM:224410 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Short stature, Death in adolescence, Hearing impairment |
OMIM:122860 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Scoliosis |
ORPHA:544503 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
Melnick-Needles Syndrome |
|
Short stature, Delayed cranial suture closure, Short thorax, Abnormal rib morphology, Hip disloca... |
ORPHA:2484 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Di... |
OMIM:618476 |
Thoracolaryngopelvic Dysplasia |
|
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... |
OMIM:187760 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Hepatomegaly, High palate, Scoliosis, Delayed cranial suture closure |
OMIM:619383 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Hepatomegaly, Death in infancy, Short stature, Camptodactyly of fin... |
ORPHA:93473 |
2P15P16.1 Microdeletion Syndrome |
|
Prominent metopic ridge, Camptodactyly of finger, Pectus excavatum, Kyphosis, Growth delay, Enlar... |
ORPHA:261349 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Wormian bones, Down-sloping shoulders, Short stature, Hearing abnormality, ... |
ORPHA:1452 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Spina bifida, Abnormal rib morphology, Vertebral segmentation defect, Abnormal ... |
ORPHA:1120 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Mixed hearing impairment, Hepatomegaly, Thickened helices, Abnormal... |
ORPHA:581 |
Moebius Syndrome |
|
Respiratory distress, Micrognathia, Short neck, High palate, Bifid uvula |
OMIM:157900 |
Craniosynostosis And Dental Anomalies |
|
Stapes ankylosis, Prominent metopic ridge, Short stature, Absent malleus, Sagittal craniosynostos... |
OMIM:614188 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Pancytopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Thrombocytope... |
OMIM:242900 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short thorax, Poorl... |
ORPHA:3003 |
Renpenning Syndrome |
|
Severe short stature, Pectus excavatum, High, narrow palate, Sensorineural hearing impairment, Ab... |
ORPHA:3242 |
Neural Tube Defects, Susceptibility To |
|
Absence of the sacrum, Sacral dimple, Spina bifida occulta, Asymmetry of spinal facet joints |
OMIM:182940 |
Microphthalmia, Lenz Type |
|
Abnormal clavicle morphology, Short stature, Camptodactyly of finger, Hyperlordosis, Kyphosis, Ab... |
ORPHA:568 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Intestinal malrotation, Micrognathia, Missing ribs, Vertebral wedging, Platyspondyly, Short ribs |
OMIM:617866 |
Cat-Eye Syndrome |
|
Short stature, Abnormal rib morphology, Intrauterine growth retardation, Anal atresia, Hearing im... |
ORPHA:195 |
Campomelia, Cumming Type |
|
Hepatomegaly, Abnormally ossified vertebrae, Death in infancy, Pancreatic cysts, Abnormality of t... |
ORPHA:1318 |
Congenital Myasthenic Syndrome |
|
Neuropathic spinal arthropathy, Microretrognathia, Congenital hip dislocation, Sudden episodic ap... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Neuropathic spinal arthropathy, Microretrognathia, Congenital hip dislocation, Sudden episodic ap... |
ORPHA:98914 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Short neck, Micrognathia, Multiple joint dislocation, Pectus carinatum, Knee dislocat... |
OMIM:245600 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Multiple pterygia, Abnormal sternum morphology, Vertebral segmentation defect, High palate, Condu... |
ORPHA:2990 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Abnormal c... |
ORPHA:1435 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Thrombocytopenia, Abnormal primary mola... |
ORPHA:1830 |
Vacterl/Vater Association |
|
Low-set, posteriorly rotated ears, Occipital encephalocele, Abnormal intervertebral disk morpholo... |
ORPHA:887 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Intestinal malrotation, Pectus excavatum, Cryptorchidism, Abnormal ri... |
ORPHA:2970 |
Feingold Syndrome |
|
Short stature, External ear malformation, Abnormality of the spleen, Sensorineural hearing impair... |
ORPHA:1305 |
Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Dyspnea, Abnormal respiratory system physiology, Lymphadenopa... |
ORPHA:50251 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Antecubital pterygium, Cleft palate, Fus... |
OMIM:618469 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hip contracture, Thoracic scoliosis, Hepatomegaly, Spinal rigidity, Short n... |
OMIM:620369 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Kyphoscoliosis |
ORPHA:98805 |
Noonan Syndrome |
|
Hepatomegaly, Short stature, Micrognathia, Pectus excavatum, Abnormality of the spleen, Abnormali... |
ORPHA:648 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Short femur, Anterior rib cupping, Micromelia, Micrognathia, Lat... |
OMIM:211350 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Lumbar hyperlordosis, Severe short stature, Anterior rib cupping, Kyphoscoliosis, Genu valgum, Hy... |
OMIM:184253 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatoblastoma, Pitui... |
ORPHA:99889 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Cleft palate... |
OMIM:312150 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Thickened ribs, Splenomegaly, Ovoid thoracolumbar vertebrae, Hearing impairment |
OMIM:252920 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Thickened ribs, Kyphoscoliosis, Splenomegaly, Ovoid thoracolumbar vertebrae, Beakin... |
OMIM:252930 |
Cantú Syndrome |
|
Ovoid vertebral bodies, Short hallux, Short neck, Cuboid-shaped vertebral bodies, Osteoporosis, P... |
ORPHA:1517 |
Cartilage-Hair Hypoplasia |
|
Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Narrow chest, Neutropenia, L... |
ORPHA:175 |
Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Short stature, Short neck, Rib fusion, Hemivertebrae, Cleft pa... |
ORPHA:1394 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Macroglos... |
ORPHA:254864 |
Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae |
OMIM:173800 |
White-Sutton Syndrome |
|
Joint laxity, Short stature, Micrognathia, Short neck, Wormian bones, Intrauterine growth retarda... |
OMIM:616364 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Short neck, Thrombocytopenia, Splenomegaly, Recurrent pneumon... |
OMIM:617303 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Genu recurvatum, Lateral clavicle hook, Pectus carinatum, High palate, Conductive hearing impairm... |
OMIM:182212 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Genu recurvatum, Aplasia/Hypoplasia of the patella, Elbow... |
OMIM:224690 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ... |
ORPHA:284984 |
Müllerian Aplasia And Hyperandrogenism |
|
Shield chest, Cubitus valgus, Short stature, Short neck |
ORPHA:247768 |
Craniosynostosis, Herrmann-Opitz Type |
|
Short stature, Craniosynostosis, Abnormal rib morphology, Cleft palate, Abnormal antihelix morpho... |
ORPHA:2145 |
Aarskog-Scott Syndrome |
|
Joint laxity, Hyperextensibility of the finger joints, Increased upper to lower segment ratio, Sh... |
OMIM:305400 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Camptodactyly of finger, Hyperlordosis, Kyphosis, Splenomegaly, Abnormal f... |
ORPHA:354 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Steatorrhea, ... |
OMIM:269200 |
Mogs-Cdg |
|
Respiratory distress, Hepatomegaly, Thoracic scoliosis, Hypoventilation, Apnea, Hepatosplenomegal... |
ORPHA:79330 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Congenital hip dislocation, Short stature, Hyperlordosis, Micrognathia, Hypoplasia of... |
OMIM:616007 |
Cenani-Lenz Syndrome |
|
Elbow dislocation, High, narrow palate, Abnormal rib morphology, Hip dislocation, Abnormal form o... |
ORPHA:3258 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Hepatomegaly, Ankle flexion contracture, Micrognathia, Splenomegaly, High, ... |
OMIM:608799 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Increased bone mineral density, Rhizomelia, Aplastic clavicle, Micrognathia, Sh... |
ORPHA:50945 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Short neck, Knee flexion contracture, High palate, Intercrural pterygium, Conductive hearing impa... |
OMIM:265000 |
Trisomy 8P |
|
Sacral dimple, Posteriorly rotated ears, Short neck, Cryptorchidism, Malrotation of small bowel, ... |
ORPHA:264450 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Chronic otitis media, Abnormal clavicle morphology, Abnormal rib morphology, Low-set ears |
ORPHA:276422 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Short stature, Short thorax, Abnormal rib morphology, Abnormal ster... |
ORPHA:474 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal clavicle morphology, Hypoplastic scapulae, Aplasia/Hy... |
ORPHA:958 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Macroglossia, Flared elbow metaphyses, Micrognathia |
ORPHA:1423 |
Perlman Syndrome |
|
Hepatomegaly, Posteriorly rotated ears, High, narrow palate, Cryptorchidism, Abnormal pancreas mo... |
ORPHA:2849 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatic steatosis |
ORPHA:26792 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Cleft palate... |
OMIM:253290 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Short stature, Short neck, Missing ribs, Esophageal atresia, Bilateral cryptorchidism, Tracheoeso... |
OMIM:619859 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Persistent open anterior fontanelle, Neonatal respiratory distress, Delayed... |
OMIM:119600 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Postnatal growth... |
OMIM:612394 |
Grant Syndrome |
|
Joint dislocation, Short stature, Abnormal rib morphology, Narrow chest, Wormian bones, Sprengel ... |
ORPHA:2097 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Adrenal hyperplasia, High, narrow palate, Anteriorly placed anus, Abnormal ovarian morphology, Na... |
ORPHA:95699 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Micrognathia, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ... |
OMIM:271640 |
Restrictive Dermopathy 1 |
|
Limb joint contracture, Kyphoscoliosis, Micrognathia, Thin clavicles, Wide anterior fontanel, Fle... |
OMIM:275210 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Severe short stature, Short neck, Short thorax, Narrow chest, Umbilical h... |
ORPHA:93299 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Recurrent pneumonia, Short ribs, Butterfly vertebrae |
OMIM:607143 |
Trisomy 20P |
|
Camptodactyly of finger, Spina bifida, Short neck, Micrognathia, Kyphosis, Abnormal form of the v... |
ORPHA:261318 |
Treacher Collins Syndrome 2 |
|
Anotia, Conductive hearing impairment, Fusion of middle ear ossicles, Microtia |
OMIM:613717 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Short stature, Short neck, Pectus excavatum,... |
OMIM:115150 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Prominent metopic ridge, Congenital hip dislocation, Micrognathia, Hypoplastic coccygeal vertebra... |
OMIM:619512 |
Heterotaxy, Visceral, 5, Autosomal |
|
Absence of the sacrum, Intestinal malrotation, Asplenia, Abdominal situs inversus, Abdominal situ... |
OMIM:270100 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Narrow... |
OMIM:304120 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Intestinal malrotation, Splenomegaly, Abnormal rib morphology, Int... |
ORPHA:3035 |
Right Atrial Isomerism |
|
Asplenia, Abdominal situs ambiguus, Polysplenia |
OMIM:208530 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Persistent open anterior fontanelle, Broad clavicles, Pectus excavat... |
OMIM:304150 |
Short Stature, Brussels Type |
|
Growth delay, Short stature, Narrow chest, Calcification of cartilage |
ORPHA:2867 |
Esophageal Atresia |
|
Respiratory distress, Barrett esophagus, Intestinal malrotation, Pyloric stenosis, Episodic respi... |
ORPHA:1199 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Kyphosis, ... |
ORPHA:1855 |
Noonan Syndrome 2 |
|
Short stature, Short neck, Pectus excavatum, Micrognathia, Pectus carinatum, Shield chest, Abnorm... |
OMIM:605275 |
Schwartz-Jampel Syndrome |
|
Micromelia, Short neck, Micrognathia, Pectus carinatum, Wrist flexion contracture, Death in infan... |
ORPHA:800 |
Malaria |
|
Anemia, Respiratory distress, Thrombocytopenia |
ORPHA:673 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Thickened ribs, Short stature, Camptodactyly of finger, Splenomegaly, Sensorineural... |
ORPHA:217085 |
Tularemia |
|
Respiratory distress, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Medias... |
ORPHA:3392 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Stillbirth, Abnormality of the vertebral column, Abnormal vertebr... |
OMIM:276950 |
Cole-Carpenter Syndrome |
|
Short stature, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scoliosi... |
ORPHA:2050 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Leukoc... |
ORPHA:1302 |
Digeorge Syndrome |
|
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus... |
OMIM:188400 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Abnormal rib morphology, Disproportionate shor... |
ORPHA:2772 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Wide anterior fontanel, Vertebral arch anomaly, High palate, Wormian bones, Broad ribs |
ORPHA:85184 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Thickened ribs, Short stature, Camptodactyly of finger, Splenomegaly, Sensorineural... |
ORPHA:217093 |
8P23.1 Microdeletion Syndrome |
|
Short stature, Micrognathia, Short neck, Growth delay, Enlarged thorax, Intrauterine growth retar... |
ORPHA:251071 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Irregular chondrocostal junctions, Genu va... |
OMIM:250420 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Anter... |
OMIM:102700 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Sideroblastic anemia, Respiratory insufficiency due to muscle weakness, Hep... |
OMIM:613561 |
Hurler Syndrome |
|
Hepatomegaly, Hypoplasia of the femoral head, Short stature, Short neck, Joint stiffness, Hypopla... |
OMIM:607014 |
Larsen-Like Syndrome, Lethal Type |
|
Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Neonatal death |
OMIM:245650 |
Occipital Horn Syndrome |
|
Osteopenia, Pectus carinatum, Narrow chest, Short palm, Abnormality of the wrist, Osteomalacia, A... |
ORPHA:198 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Kyphoscoliosis, Anteri... |
OMIM:253200 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Asthma, Retrognathia, Platyspondyly, Delayed eruption of permanent teeth, Scoliosis, Large knee, ... |
OMIM:619269 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Increased intervertebral space, T lymphocytopenia, Abnormal... |
ORPHA:508533 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Respiratory distress, Short neck |
ORPHA:50810 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Hypoplastic spleen, Respiratory distress |
ORPHA:89844 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Supernumerary nipple, Pectus excavatum, Submucous cleft hard palate, Darwin tub... |
OMIM:619122 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Prominent metopic ridge, Severe short stature, Posteriorly rotated ears, Camptodactyly of finger,... |
ORPHA:2215 |
Mirage Syndrome |
|
Short stature, Thrombocytopenia, Radial club hand, Leukopenia, Scoliosis, Intrauterine growth ret... |
OMIM:617053 |
Poland Syndrome |
|
Encephalocele, Aplasia/Hypoplasia of the sternum, Missing ribs, Short neck, Kyphosis, Cryptorchid... |
ORPHA:2911 |
Trisomy 8Q |
|
Camptodactyly of finger, Micrognathia, Short neck, Joint stiffness, Bone cyst, Long thorax |
ORPHA:1752 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Hydranencephaly, Short stature, Spina bifida, Kyphosis, Myelomeningocele, Menin... |
ORPHA:1393 |
Generalized Arterial Calcification Of Infancy |
|
Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Abnormality... |
ORPHA:51608 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Disproportionate short stature, Abnormal rib morph... |
ORPHA:93317 |
Turnpenny-Fry Syndrome |
|
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Pectus excavatum, Wide anterior fontanel, Small ha... |
OMIM:618371 |
Short-Rib Thoracic Dysplasia 12 |
|
Short neck, Lobulated tongue, Thoracic dysplasia, Narrow chest, Neonatal death, Hepatomegaly, Ham... |
OMIM:269860 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Hepatomegaly |
OMIM:614741 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Thin ribs, High palate, Neonatal death, Retrognathia |
OMIM:300219 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Respiratory distress, Camptodactyly of finger, ... |
OMIM:166250 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Decreased response to growth hormone stimulation test, Short neck, Pineal cyst, Mic... |
ORPHA:529962 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypnea, Dysp... |
ORPHA:36238 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Pyloric stenosis, Dyspnea, Macroglossia, Scoliosis, Pulmonary arterial hype... |
ORPHA:363705 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Wide anterior fontanel, Jaundice, Neonatal death, Hepatic per... |
OMIM:231680 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Joint dislocation, Osteopenia, Multiple joint contractures, Micrognathia, Generalized joint laxit... |
ORPHA:536471 |
Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Knee flexion contracture, High palate, Wrist flexion contracture, Disloca... |
OMIM:305620 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Death in childhood, Hepatomegaly, Thoracolumbar kyphoscoliosis, Hypopla... |
OMIM:252500 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Dislocated radial he... |
OMIM:268310 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Down-sloping shoulders, Pectus excavatum, Kyphosis, Abnormal rib mo... |
ORPHA:392 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Heterotaxy, Visceral, 2, Autosomal |
|
Asplenia, Abdominal situs inversus, Intestinal malrotation, Polysplenia |
OMIM:605376 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Pancytopenia, Thickened ribs, Craniosynostosis, Short neck, Pectus exca... |
ORPHA:309282 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Cough, Pulmonary... |
ORPHA:2414 |
Mowat-Wilson Syndrome |
|
Uplifted earlobe, Asplenia, Cleft hard palate, Pectus carinatum, Conductive hearing impairment, B... |
ORPHA:2152 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Short stature, Micrognathia, Abnormal tho... |
ORPHA:79474 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Right unicoronal synostosis, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, S... |
ORPHA:261537 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Hepatomegaly, Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, ... |
ORPHA:83617 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Enlarged thorax, Hepatic fibr... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Enlarged thorax, Hepatic fibr... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Enlarged thorax, Hepatic fibr... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Enlarged thorax, Hepatic fibr... |
ORPHA:881 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Pyloric stenosis, Sensorineural hearing impairment, Rib fusion, Cleft palate, S... |
ORPHA:261197 |
Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:113650 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Sacral dimple, Hip dislocation, Cleft palate, Scoliosis, Bifid uvula, Anal ... |
OMIM:300968 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytop... |
ORPHA:79312 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, High palate, Plantar flexion contracture |
OMIM:620011 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
11 pairs of ribs, Short metacarpal, Rhizomelia, Short neck, Cupped ribs, Horizontal inferior bord... |
OMIM:250220 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress |
ORPHA:91130 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Short metacarpal, Severe short stature, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Platyspo... |
ORPHA:85167 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short neck, Hemivertebrae, Narrow chest, Hepatoblastoma, Hepatomegaly, Short stature, Interphalan... |
ORPHA:96334 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Intrauterine growth retardation, Severe short stature, Abnormal rib morphology, Neutropenia |
ORPHA:2643 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Missing ribs, Cryptorchidism, Abnormal rib morphology, Microtia, A... |
ORPHA:3301 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, High palate, Pneumonia |
ORPHA:596 |
Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Vertebral clefting, Neonatal death, Abnormal vertebral morphology, Anal at... |
OMIM:615709 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Long clavicles, Kyphoscoliosis, Splenomegaly, Thin ribs, Bell-shaped thorax, Microtia |
OMIM:608149 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Intrauterine growth retardation, Abnormal rib morphology |
ORPHA:1506 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Hepatomegaly, Death in infancy, Tachypnea, Respiratory insufficiency, Respi... |
OMIM:614299 |
Iniencephaly |
|
Rhizomelia, Hyperlordosis, Absent vertebra, Mandibular aplasia, Arthrogryposis multiplex congenita |
ORPHA:63259 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Short neck, High, narrow palate, Vertebral segmentation defect, Hepat... |
ORPHA:373 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Joint dislocation, Osteopenia, Joint laxity, Congenital hip dislocation, Protrusio acetabuli, Kyp... |
OMIM:225400 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Right unicoronal synostosis, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, S... |
ORPHA:261552 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Abnormal e... |
ORPHA:2769 |
Distal Deletion 9P |
|
Enlarged thorax, Short neck |
ORPHA:1642 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Short neck, Hemivertebrae, High palate, Na... |
OMIM:213980 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Craniosynostosis, Hiatus hernia, Pyloric stenosis, Dyspnea, Hip dislocation... |
ORPHA:3342 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Short neck, Narrow palate, Macroglossia, Hypoplasia of the thymus, Narrow che... |
OMIM:617022 |
Monosomy 9Q22.3 |
|
Ovarian fibroma, Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Abnormality of ... |
ORPHA:77301 |
Holt-Oram Syndrome |
|
Hypoplasia of the ulna, Thoracic scoliosis, Short humerus, Aplasia of the ulna, Pectus excavatum,... |
OMIM:142900 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Pectus excavatum, Thin ribs, Disproportionate tall stature, Abnormal thymus morphology, Lumbar he... |
ORPHA:2463 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Tracheoesophageal fistula, Upper airway obstruction, Lymphadenopat... |
ORPHA:142 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Enlargement of the ankles, Multiple joint contractures, Short stature, Short neck, Abnormal joint... |
ORPHA:99646 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Scapular winging, Short metacarpal, Block vertebrae, Tarsal synostosis, Short n... |
OMIM:272460 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Short stature, Anterior pituitary hypoplasia, Broad clavicles, Cryptorchidism, Sensorineural hear... |
OMIM:151050 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Anteriorly placed anus, High palate, Conductive hear... |
OMIM:218600 |
Tetraamelia Syndrome 1 |
|
Asplenia, Cleft palate, Low-set ears, Adrenal gland agenesis, Anal atresia |
OMIM:273395 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... |
ORPHA:264675 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Abnormal pinna morphology, Tarsal synostosis, Camptodactyly of finger, Elbow dislo... |
ORPHA:90652 |
Auriculocondylar Syndrome |
|
Respiratory distress, Abnormality of the temporomandibular joint, Hamartoma of tongue, Micrognath... |
ORPHA:137888 |
Lymphangiectasia, Intestinal |
|
Malabsorption, Stillbirth, Intestinal lymphangiectasia, Lymphopenia, Prominent floating ribs |
OMIM:152800 |
Hypophosphatasia |
|
Short stature, Craniosynostosis, Abnormal rib morphology, Narrow chest, Anemia |
ORPHA:436 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Micrognathia |
ORPHA:261304 |
Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Decreased testicular size, Posteriorly rotated ears, Tarsal synostosis, Short ... |
OMIM:157800 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Multiple Osteochondromas |
|
Neuropathic spinal arthropathy, Abnormality of the knee, Intestinal obstruction, Short stature, A... |
ORPHA:321 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Posteriorly rotated ears, Short stature, Decreased response to growth hormone... |
OMIM:146510 |
Marshall Syndrome |
|
Micrognathia, Knee osteoarthritis, Cleft palate, Platyspondyly, Macrodontia of permanent maxillar... |
OMIM:154780 |
Mucopolysaccharidosis Type 2 |
|
Irregularity of vertebral bodies, Otosclerosis, Hepatomegaly, Short stature, Splenomegaly, Sensor... |
ORPHA:580 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Sacral dimple, Apnea, Camptodactyly of finger, Trismus, Asthma, Elbow flexi... |
ORPHA:3206 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Hepatomegaly, Death in infancy, High palate, Inspiratory stridor, Irregular... |
OMIM:604377 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Joint laxity, Short metacarpal, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosi... |
OMIM:300106 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Mediastinal lymphad... |
ORPHA:91359 |
Osteopathia Striata With Cranial Sclerosis |
|
Anal stenosis, Posteriorly rotated ears, Intestinal malrotation, Delayed closure of the anterior ... |
OMIM:300373 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Hepatomegaly, Postnatal growth retardation, Abnormal thorax morphology, Abnormal form of the vert... |
ORPHA:73230 |
Cog1-Cdg |
|
Low-set, posteriorly rotated ears, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, ... |
ORPHA:263508 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Kyphosis, Respiratory distress, Scoli... |
ORPHA:79329 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Lateral clavicle hook, Cleft pa... |
OMIM:263520 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Anteriorly placed anus, Glossoptosis, High palate, Conductive hearing... |
OMIM:117650 |
Mucolipidosis Iii Alpha/Beta |
|
Short stature, Craniosynostosis, Irregular carpal bones, Short ribs, Scoliosis, Broad ribs, Shall... |
OMIM:252600 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Ovarian fibroma, Down-sloping shoulders, Kyphoscoliosis, Spina bifida, Hamartom... |
OMIM:109400 |
Acrorenal-Mandibular Syndrome |
|
Hypoplastic scapulae, Posteriorly rotated ears, Absent nipple, Kyphoscoliosis, Missing ribs, Hemi... |
OMIM:200980 |
Coccidioidomycosis |
|
Respiratory distress, Eosinophilia, Pneumonia, Abnormality of the spleen, Mediastinal lymphadenop... |
ORPHA:228123 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Death in infancy, Short stature, Anterior rib cupping, Exocrine ... |
OMIM:617941 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Micrognathia, Carious teeth, Short neck, Cleft palate, High palate, Scolios... |
ORPHA:177907 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Hepatic heman... |
OMIM:180849 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Abnormality of the anus, Low-set, posteriorly ... |
ORPHA:2308 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Prominent metopic ridge, Apnea, Micrognathia, Recurrent pn... |
ORPHA:314655 |
Autosomal Recessive Robinow Syndrome |
|
Short neck, Pectus carinatum, Vertebral segmentation defect, Chronic otitis media, Synostosis of ... |
ORPHA:1507 |
Kbg Syndrome |
|
Vertebral fusion, Posteriorly rotated ears, Short stature, Short neck, Cryptorchidism, Rib fusion... |
OMIM:148050 |
Myhre Syndrome |
|
Mandibular prognathia, Vertebral fusion, Short neck, Hypoplasia of the maxilla, Cleft palate, Res... |
OMIM:139210 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Lateral clavicle hook, Cryptorchidism, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Hori... |
OMIM:615633 |
Listeriosis |
|
Back pain, Respiratory distress, Liver abscess, Miscarriage, Pneumonia, Jaundice, Peritonitis, He... |
ORPHA:533 |
Adult-Onset Still Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Cartilage destruction, Splenomegaly, Leu... |
ORPHA:829 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Micrognathia, Splenomegaly, Hepatosplenomegaly, Anemia... |
OMIM:608013 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Carious teeth, Respiratory distress, Flat acetabular roof |
OMIM:617102 |
Loeys-Dietz Syndrome 3 |
|
Protrusio acetabuli, Craniosynostosis, Eosinophilic infiltration of the esophagus, Osteoarthritis... |
OMIM:613795 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Death in infancy, Craniosynostosis, Micrognathia, Protruding tongue, Wide ... |
OMIM:612289 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Hepatomegaly, Orthopnea, Hyperlordosis, Respiratory insufficiency due to mu... |
ORPHA:365 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Short neck, Postnatal growth retardation, Large placenta, Bell-shaped thorax, Coa... |
ORPHA:254519 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Generalized joint laxity, Ivory epiphyses of the phalanges of th... |
ORPHA:93357 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Bilateral cleft palate, Sacral dimple, Prominent metopic ridge, Posteriorly ro... |
OMIM:605039 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Abnormal rib morph... |
ORPHA:2588 |
Aspergillosis |
|
Eosinophilia, Abnormal rib morphology, Hepatitis, Abnormality of the vertebral column, Neutropeni... |
ORPHA:1163 |
Pontine Tegmental Cap Dysplasia |
|
Sensorineural hearing impairment, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis |
OMIM:614688 |
Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory f... |
ORPHA:178320 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Knee ... |
OMIM:210710 |
Aicardi Syndrome |
|
Intestinal polyposis, Block vertebrae, Missing ribs, Hiatus hernia, Malabsorption, Rib fusion, Cl... |
ORPHA:50 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Micrognathia, High, narrow palate, Dyspnea, Respiratory failure, Retrognathia |
ORPHA:2707 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Hip contracture, Short stature, Kyphoscoliosis, Cleft palate, Knee flexion contracture, Pectus ca... |
ORPHA:488642 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia, Micrognathia, Aglossia, Cleft palate, Mandibular aplasia, M... |
OMIM:202650 |
Sclerosteosis 1 |
|
Sclerotic scapulae, Broad clavicles, Overgrowth, Broad ribs, Sclerotic vertebral endplates, Heari... |
OMIM:269500 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Short neck, Micrognathia, Humeroradial synostosis, Abnormal rib morphology,... |
ORPHA:3404 |
Noonan Syndrome 1 |
|
Pectus excavatum of inferior sternum, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic l... |
OMIM:163950 |
Craniotubular Dysplasia, Ikegawa Type |
|
Short stature, Increased intervertebral space, Platyspondyly, Sclerosis of skull base, Short palm... |
OMIM:619727 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Low-set, posteriorly rotated ears, Sacral dimple, Kyphosis, Abnor... |
ORPHA:280 |
Stickler Syndrome |
|
Joint dislocation, Protrusio acetabuli, Abnormal dental enamel morphology, Micrognathia, Hypoplas... |
ORPHA:828 |
Keutel Syndrome |
|
Recurrent otitis media, Short stature, Calcification of cartilage, Hearing impairment |
ORPHA:85202 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Thrombocytopenia, Death in childhood |
OMIM:615597 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
Distal Deletion 12Q |
|
Short stature, Unilateral cryptorchidism, Kyphoscoliosis, Short neck, Prominent ear helix, Wide a... |
ORPHA:96149 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor |
ORPHA:97285 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress |
OMIM:616733 |
Farber Disease |
|
Respiratory distress, Abnormality of the knee, Intrahepatic cholestasis with episodic jaundice, T... |
ORPHA:333 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Long thorax, Genu valgum |
OMIM:619142 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Craniosynostosis, Abnormality of the pancreas, Narrow palate, Cleft palate,... |
ORPHA:1555 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Proportionate short stature, Thin cla... |
OMIM:244460 |
Alkaptonuria |
|
Joint dislocation, Cartilage destruction, Hearing abnormality, Osteoarthritis, Arthritis, Joint s... |
ORPHA:56 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Joint laxity, Short stature, Short neck, Advanced ossification of carpal bones, Flat acetabular r... |
OMIM:610442 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Microvesicular hepatic steatosis, Decreased carnitine level in liver, Hepat... |
OMIM:212140 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Supernumerary tooth, Aplasia of the epiglottis,... |
OMIM:617088 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Lateral clavicle hook, High, narrow palate, Protruding ear, Knee flexio... |
OMIM:600920 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Hallermann-Streiff Syndrome |
|
Spina bifida, Hyperlordosis, Pectus excavatum, High, narrow palate, Proportionate short stature, ... |
OMIM:234100 |
Acrocapitofemoral Dysplasia |
|
Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Pectus excavatum, Cupped ribs, Dispr... |
OMIM:607778 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... |
ORPHA:238459 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Rhizomelia, Hamartoma of tongue, Unicoronal synostosis, Cryptorchidism, Bifid tong... |
OMIM:616300 |
Aspartylglucosaminuria |
|
Joint laxity, Hepatomegaly, Short stature, Kyphosis, Vacuolated lymphocytes, Hypoplastic frontal ... |
OMIM:208400 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Enlarged joints, Short stature, Ovoid vertebral bodies, Short neck, Elbow flexi... |
OMIM:601559 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Macrocytic anemia, Micrognathia, Cleft palate, Granulocytopenia, Bifid uvula |
OMIM:606164 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Short stature, Elevated circulating growth hormone concentration, T... |
ORPHA:249 |
Doors Syndrome |
|
11 pairs of ribs, Respiratory distress, Sagittal craniosynostosis, Hemivertebrae, Cleft palate, S... |
ORPHA:79500 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Short stature, Hypoplasia of the odo... |
OMIM:600373 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Short ribs, Horizontal ribs |
OMIM:617895 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Craniosynostosis, Abnormal rib morpho... |
ORPHA:83 |
Cardioacrofacial Dysplasia 2 |
|
Recurrent patellar dislocation, Genu valgum, Long thorax, Narrow chest, Limb undergrowth |
OMIM:619143 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Hepatomegaly, Portal hypertension, Esophageal varix, Respiratory insufficie... |
ORPHA:367 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Macroglossia, Umbilical hernia, Respiratory distress, Prolonged neonatal jaundice |
ORPHA:226313 |
Nipah Virus Disease |
|
Respiratory distress, Cough |
ORPHA:99825 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Trisomy 1Q |
|
Camptodactyly of finger, Cryptorchidism, Short thorax, Abnormal rib morphology, Cleft palate, Low... |
ORPHA:261344 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Colitis, Coug... |
ORPHA:3260 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Beaded ribs, Enlargement of the costochondral junction, Sacroiliac joint synovi... |
ORPHA:89936 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma... |
ORPHA:227990 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Wide cranial sutures, Undulate ribs, Thin ribs, Short ribs, Splenic cyst, F... |
OMIM:618188 |
Microphthalmia, Syndromic 9 |
|
Severe short stature, Short stature, Cryptorchidism, Multilobulated spleen, Low-set ears, Neonata... |
OMIM:601186 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Posteriorly rotated ears, Cholelithiasis, Hyperlordosis, Hip dislocation, Cleft pal... |
OMIM:301066 |
Dextrocardia |
|
Meckel diverticulum, Congenital hip dislocation, Intestinal malrotation, Abnormality of the splee... |
ORPHA:1666 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Hepatomegaly |
ORPHA:927 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Abnormal pinna morphology, Pancreatic fibrosis, Craniosynostosis... |
OMIM:200995 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Micrognathia, Death in infancy, Abnormal dental enamel morphology, Abnorma... |
ORPHA:534 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Short stature, Thoracic hypoplasia, Hamartoma of tongue, Intestinal malrotation, Lateral clavicle... |
OMIM:613091 |
Fryns Syndrome |
|
Meckel diverticulum, Anal atresia, Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal m... |
OMIM:229850 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma... |
ORPHA:227982 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Respiratory... |
OMIM:220110 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Camptodactyly of finger, Craniosynostosis, Micrognathia, Elbow dislocation,... |
ORPHA:2554 |
Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Missing ribs, External ear malformation, Cryptorchidism, Abnormal rib... |
ORPHA:1647 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Hepatomegaly |
ORPHA:254913 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Cleft palate |
OMIM:602196 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Rectal prolapse, Respiratory distress |
OMIM:619793 |
Restrictive Dermopathy |
|
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... |
ORPHA:1662 |
Cranioectodermal Dysplasia 2 |
|
Cholangitis, Short neck, High palate, Narrow chest, Simple ear, Hepatomegaly, Short stature, Rhiz... |
OMIM:613610 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Micrognathia, Trismus, Recurrent pneumonia, Leukopenia, Neutropenia, Hepati... |
OMIM:616271 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Posteriorly rotated ears, Camptodactyly of finger, Short neck, High, narrow pala... |
OMIM:208150 |
Tetanus |
|
Respiratory distress, Trismus, Tachypnea |
ORPHA:3299 |
Branchiooculofacial Syndrome |
|
Short neck, Conductive hearing impairment, Ectopic thymus tissue, Hypoplastic superior helix, Hyp... |
OMIM:113620 |
Beckwith-Wiedemann Syndrome |
|
Otosclerosis, Prominent metopic ridge, Hepatomegaly, Wide anterior fontanel, Splenomegaly, Large ... |
ORPHA:116 |
Wolf-Hirschhorn Syndrome |
|
Abnormal form of the vertebral bodies, Conductive hearing impairment, Accessory spleen, Vertebral... |
OMIM:194190 |
Aicardi Syndrome |
|
Block vertebrae, Spina bifida, Missing ribs, Hiatus hernia, Postnatal growth retardation, Hemiver... |
OMIM:304050 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Methemoglobinemia, Hypoxemia |
ORPHA:464453 |
Lowe Oculocerebrorenal Syndrome |
|
Short stature, Camptodactyly of finger, Osteomalacia, Wrist swelling, Kyphosis, Postnatal growth ... |
OMIM:309000 |
Marshall-Smith Syndrome |
|
Microretrognathia, Thoracic scoliosis, Decreased hip abduction, Large sternal ossification center... |
OMIM:602535 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Postnatal growth retardation, Thin clavicles, Thin ribs, Growth delay, Intrauterine growth retard... |
ORPHA:93324 |
Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Leukocytosis, Anemia, Respiratory... |
ORPHA:340 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Hepatomegaly, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, A... |
ORPHA:348 |
Monosomy 9P |
|
Short neck, Cryptorchidism, Abnormal rib morphology, Cleft palate, Abnormal antihelix morphology,... |
ORPHA:261112 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Microretrognathia, Thoracic scoliosis, Congenital hip dislocation, Respiratory di... |
ORPHA:508488 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Abnormal pinna morphology, Spina bifida occulta, Abnormal rib morphology, Short neck |
ORPHA:488434 |
Scimitar Syndrome |
|
Respiratory distress, Pneumothorax, Abnormality of the vertebral column, Cough, Pulmonary arteria... |
ORPHA:185 |
Stt3B-Cdg |
|
Respiratory distress, Thrombocytopenia |
ORPHA:370924 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Short stature, Sagittal craniosynostosis, Pectus excavatum, Pec... |
OMIM:609942 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Weill-Marchesani Syndrome 2 |
|
Lumbar hyperlordosis, Short stature, Proportionate short stature, Elbow flexion contracture, Spin... |
OMIM:608328 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Intestinal malrotation, Hypoxemia |
ORPHA:2140 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
Smith-Lemli-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Aganglionic megacolon, Short stature, Rhizomelia, Short neck, ... |
ORPHA:818 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Long clavicles, Hepatoblastoma, Short neck, Postnatal growth retardation... |
OMIM:269150 |
Congenital Enterovirus Infection |
|
Respiratory distress, Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hepatitis, ... |
ORPHA:292 |
Zttk Syndrome |
|
Absent gallbladder, Short stature, Craniosynostosis, Kyphosis, Submucous cleft hard palate, Rib f... |
OMIM:617140 |
Craniofacial Microsomia 1 |
|
Block vertebrae, Micrognathia, Hemivertebrae, Genu valgum, Cervical ribs, Scoliosis, Vertebral hy... |
OMIM:164210 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Hepatomegaly, Leukopenia, Neutropenia, Pancreatitis, Thrombocytopenia |
OMIM:251000 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Mixed hearing impairment, Posteriorly rotated ears, Short stature, Kyph... |
ORPHA:97360 |
Oromandibular Dystonia |
|
Respiratory distress, Abnormality of the temporomandibular joint, Abnormal mandible morphology |
ORPHA:93958 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Macrocytic anemia, Micrognathia, Reticulocytopenia, Cleft palate, Steroid-r... |
OMIM:613309 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Hepatomegaly, Hepatic fibrosis, Scoliosis |
OMIM:615273 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Polycystic liver disease, Pancreatic fibrosis, Short stature, Lateral clavicle ... |
OMIM:208500 |
Trisomy 18 |
|
Low-set, posteriorly rotated ears, Short stature, Camptodactyly of finger, Spina bifida, Esophage... |
ORPHA:3380 |
1P36 Deletion Syndrome |
|
Abnormality of the spleen, Abnormality of the liver, Conductive hearing impairment, Hepatic steat... |
ORPHA:1606 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Horizontal ribs, Cryptorchidism, Bell-shaped thorax, Growth delay, Normochromic anemia, Neutropen... |
OMIM:614857 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Short stature, Proportionate short stature, Spinal canal stenosis, Narrow p... |
OMIM:277600 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Thrombocytopenia |
ORPHA:79242 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction |
ORPHA:100057 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Abnormal rib morphology, Pulmonary arterial hypertension, Short ribs, Broad... |
ORPHA:2519 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Hepatomegaly, Microvesicular hepatic steatosis, Stridor, Macrovesicular hep... |
OMIM:615595 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Autoimmune hemolytic anemia, Gastritis, Pneumonia, Autoimmune thrombocytope... |
ORPHA:37042 |
Charge Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, External ear malformation, Abnormal soft palate... |
ORPHA:138 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Sacral dimple, Abnormal dental enamel morphology, Micrognathia, Dyspnea, Re... |
ORPHA:2556 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Cryptorchidism, Abnormal rib morphology, Cleft palate, Popliteal pterygium, Scoliosis |
ORPHA:1300 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Pneumonia, Peritonitis, Tachypnea, Increased circulating myelocy... |
ORPHA:36234 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Cholelithiasis |
OMIM:160900 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, High palate |
OMIM:619272 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Natal tooth, Craniosynostosis, Narrow palate, Anteriorly placed anus, High ... |
OMIM:123790 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Episodic tachypnea, Pneumonia, Jaundice, Tachypnea, Anteriorl... |
ORPHA:26793 |
Alagille Syndrome 1 |
|
Hepatocellular carcinoma, Abnormal rib morphology, Hemivertebrae, Cholestasis, Reduced number of ... |
OMIM:118450 |
Nestor-Guillermo Progeria Syndrome |
|
Wide cranial sutures, Short stature, Limited elbow movement, Delayed closure of the anterior font... |
OMIM:614008 |
Chitayat Syndrome |
|
Respiratory distress, Tracheomalacia |
OMIM:617180 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Esophageal atresia, Cleft palate, Micrognathia |
OMIM:610536 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Celiac disease, Bilateral cryptorchidism, Sensorineural hearing impairment, Rib fu... |
ORPHA:544488 |
Q Fever |
|
Respiratory distress, Hepatomegaly, Pneumonia, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatos... |
ORPHA:781 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Lumbar hyperlordosis, Abnormal pinna morphology, Posteriorly rotated ears, Short stature, Cryptor... |
OMIM:616975 |
Premature Aging Syndrome, Penttinen Type |
|
Hyperextensibility of the knee, Sensorineural hearing impairment, Thin ribs, Cervical ribs, Scoli... |
OMIM:601812 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... |
ORPHA:699 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Mandibular aplasia, Microglossia, Respiratory distress |
ORPHA:990 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Recurrent otitis media, Abnormal Eustachian tube morphology |
ORPHA:513456 |
Sepsis In Premature Infants |
|
Hepatomegaly, Abnormal mucociliary clearance, Splenomegaly, Leukocytosis, Jaundice, Dyspnea, Ente... |
ORPHA:90051 |
Xylt1-Cdg |
|
Joint dislocation, Hepatomegaly, Short stature, Cleft palate, Growth delay, Short clavicles, Broa... |
ORPHA:370930 |
Choanal Atresia |
|
Respiratory distress, Craniosynostosis, Upper airway obstruction, Tracheomalacia, Chronic sinusit... |
ORPHA:137914 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Cleft palate, Short stature, Craniosynostosis, Thin ribs |
OMIM:618265 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, High, narrow palate, Submucous cleft hard palate, Anteriorly placed anus, H... |
OMIM:612863 |
Pachyonychia Congenita |
|
Advanced eruption of teeth, Natal tooth, Oral leukoplakia, Respiratory distress |
ORPHA:2309 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Congenital hip dislocation, High palate |
OMIM:271225 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Esoph... |
ORPHA:95430 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Phocomelia, Schinzel Type |
|
Micromelia, Micrognathia, Short neck, Aplasia of the ulna, Hypoplasia of the radius, Aplasia/Hypo... |
ORPHA:2879 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Short metacarpal, Enlarged joints, Short stature, Kyphoscoliosis, Short neck, S... |
ORPHA:2044 |
Jacobsen Syndrome |
|
Short neck, Pectus excavatum, Missing ribs, Pyloric stenosis, Cryptorchidism, Low-set ears, Intra... |
OMIM:147791 |
Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Underfolded helix, Short stature, Kyphoscoliosis, Cryptorchidism, Ann... |
OMIM:268400 |
Infantile Krabbe Disease |
|
Ankle clonus, Respiratory failure, Respiratory distress |
ORPHA:206436 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Hemivertebrae, Gonadotropin deficiency, Pa... |
OMIM:214800 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, High palate, Incisor macrodontia |
ORPHA:438216 |
Vater/Vacterl Association |
|
Occipital encephalocele, Spina bifida, Postnatal growth retardation, Esophageal atresia, Abnormal... |
OMIM:192350 |
Autosomal Dominant Centronuclear Myopathy |
|
Cryptorchidism, Pyloric stenosis, Miscarriage, Thin ribs |
ORPHA:169189 |
Currarino Syndrome |
|
Sacrococcygeal teratoma, Aplasia/Hypoplasia of the sacrum |
ORPHA:1552 |
Japanese Encephalitis |
|
Respiratory distress, Neutrophilia, Genu recurvatum, Elbow flexion contracture, Respiratory paral... |
ORPHA:79139 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Arboleda-Tham Syndrome |
|
Microretrognathia, Short hallux, Craniosynostosis, Pectus excavatum, Enlarged proximal interphala... |
OMIM:616268 |
Moderate Hemophilia A |
|
Arthropathy, Hip contracture, Cartilage destruction, Synovitis, Joint swelling, Joint hemorrhage |
ORPHA:169805 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Mild short stature, Short stature, Thin ribs |
OMIM:614833 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Pectus excavatum, Large placenta, Postnatal growth retardation, Macroglossia, Prominent sternum, ... |
ORPHA:254528 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis, Short stature, Lateral clavicle hook, Thoracic dysplasia, Acetabular spurs, ... |
OMIM:615503 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology... |
ORPHA:2470 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Postnatal growth retardation, Large placenta, Coat hanger sign of ribs, Overgrowth, Umbilical her... |
ORPHA:254534 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Nonproductive cough, Leukocytosis, Fulminant hepatitis, Leukopeni... |
ORPHA:319213 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Cryptorchidism, Pectus carinatum, Genu valgum, Short ribs, Narrow chest, ... |
OMIM:225500 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Craniosynostosis, Short neck, Pectus excavatum, Cryptorchidism, Cupped ear, Hip dislocation, Undu... |
OMIM:609945 |
Neonatal Marfan Syndrome |
|
Micrognathia, Flexion contracture, Pectus carinatum, Enlarged thorax, Joint hypermobility |
ORPHA:284979 |
Severe Congenital Nemaline Myopathy |
|
Abnormal thorax morphology, Low-set ears, Thin ribs |
ORPHA:171430 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Intestinal malrotation, Cleft palate, High palate, Tracheomalacia, Anal atr... |
ORPHA:93259 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
High palate, Thickened helices, Conductive hearing impairment, Bifid uvula, Abnormality of the an... |
OMIM:607872 |
Pagod Syndrome |
|
Encephalocele, Abnormal clavicle morphology, Death in infancy, Short stature, Spina bifida, Abnor... |
ORPHA:991 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Intestinal malrotation, Cleft palate, High palate, Tracheomalacia, Anal atr... |
ORPHA:93260 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Craniosynostosis, Splenomegaly, Abnormal rib morphology, Lymphadenopathy, Growth de... |
ORPHA:667 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Respirato... |
ORPHA:308552 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Sacral dimple, Congenital hip dislocation, Thoracolumbar scoliosis, Cyst of... |
ORPHA:480880 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Malabsorption, Intestinal perforation, Cough, Tracheoesophageal fistula, An... |
ORPHA:537 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251110 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... |
ORPHA:209905 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Aganglionic megacolon, Camptodactyly of finger, Abnormal dental enamel morphology, Kyphosis, Plat... |
ORPHA:2273 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue |
ORPHA:1051 |
Cryptococcosis |
|
Respiratory distress, Lymphoid leukemia, Pneumonia, Mediastinal lymphadenopathy, Peritonitis, Dys... |
ORPHA:1546 |
Townes-Brocks Syndrome |
|
Rectoperineal fistula, Short stature, External ear malformation, Cryptorchidism, Abnormal rib mor... |
ORPHA:857 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration, Wrist flexion contracture, Knee flexion contracture |
OMIM:618733 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Hepatomegaly, Hepatocellular carcinoma, Microvesicular hepatic steatosis, M... |
OMIM:256810 |
Biotinidase Deficiency |
|
Respiratory distress, Myelopathy, Apnea, Hyperventilation |
ORPHA:79241 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Intrauterine growth retardation, Abnormal cartilage matrix |
ORPHA:86822 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251100 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Short stature, Pectus excavatum, Thrombocytopenia, Enlarged tonsils, ... |
ORPHA:2785 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemi... |
OMIM:274150 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Hepatomegaly, Dyspnea |
OMIM:115197 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Cryptorchidism, High palate, Thin ribs |
ORPHA:456328 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Megaloblastic anemia, Pulmonary embolism, Jaundice, Neutropenia, Pulmonary ... |
ORPHA:79282 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Intestinal edema, Abnormal soft palate morphology, Dyspnea, Abnormal uvula ... |
ORPHA:100050 |
Cocaine Intoxication |
|
Respiratory distress, Intestinal perforation, Wheezing, Tachypnea, Pneumothorax, Colitis, Cough, ... |
ORPHA:90068 |
Nocardiosis |
|
Respiratory distress, Liver abscess, Pneumonia, Productive cough, Lymphadenitis, Peritonitis, Non... |
ORPHA:31204 |
Adnp Syndrome |
|
Advanced eruption of teeth, Umbilical hernia, Respiratory distress, Aspiration |
ORPHA:404448 |
Hereditary Acrokeratotic Poikiloderma |
|
Short stature, Camptodactyly of finger, Xerostomia, Abnormal rib morphology, Ankyloglossia, Oral ... |
ORPHA:2907 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... |
OMIM:615710 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Lumbar hyperlordosis, Kyphoscoliosis, Sagittal craniosynostosis, Proportionat... |
ORPHA:500150 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... |
OMIM:601346 |
Warburg-Cinotti Syndrome |
|
Posteriorly rotated ears, Atresia of the external auditory canal, Low-set ears, Hypoplasia of the... |
OMIM:618175 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Gonadotropin deficiency, Bifid uvula, Low-set, posteriorly rotated ears, Short sta... |
ORPHA:672 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Hy... |
ORPHA:2330 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevat... |
ORPHA:1329 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax |
OMIM:620306 |
Isolated Arrhinia |
|
Respiratory distress, Hypoplasia of the nasal bone, Absent nasal septal cartilage |
ORPHA:1134 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Hepatomegaly, Hepatic steatosis, Apnea |
ORPHA:17 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... |
OMIM:618426 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Short stature, Elevated hemoglobin A1c, Pectus excavatum, Postnatal growth retardat... |
OMIM:619127 |
Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Thin ribs |
OMIM:615368 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Thrombocytopenia, Thin ribs |
OMIM:617397 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax, Anemia |
OMIM:617300 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Esophageal stricture, Pneumothorax, Stridor, Respirator... |
ORPHA:79404 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Aspiration, Apnea |
ORPHA:2131 |
Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Hepatomegaly, Death in infancy, Splenomegaly, Growth delay, Death in chil... |
OMIM:612301 |
Tracheobronchopathia Osteochondroplastica |
|
Esophagitis, Calcification of cartilage |
ORPHA:3348 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Hypoplasia of the maxilla, Rhinitis, Taurodontia, Respiratory distress |
OMIM:305100 |
Wiedemann-Rautenstrauch Syndrome |
|
Posteriorly rotated ears, Short stature, Delayed closure of the anterior fontanelle, Short neck, ... |
OMIM:264090 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Abnormal stomach morphology, Neonatal asphyxia, Dyspnea, Wheezing, Tracheoe... |
ORPHA:141127 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, Microvesicular hepatic steatosis, Jaundice, Cholestasis, ... |
OMIM:617156 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal cartilage morphology, Osteochondrosis |
ORPHA:2396 |
Eiken Syndrome |
|
Broad ribs, Short stature, Delayed ossification of carpal bones, Flat acetabular roof |
OMIM:600002 |
Colchicine Poisoning |
|
Respiratory distress, Leukocytosis, Cardiorespiratory arrest |
ORPHA:31824 |
Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
Aceruloplasminemia |
|
Refractory anemia, Abnormal pancreas morphology, Hypochromic microcytic anemia, Hepatic fibrosis,... |
ORPHA:48818 |
Pmm2-Cdg |
|
Mandibular prognathia, Respiratory distress, Kyphoscoliosis, Abnormal liver parenchyma morphology... |
ORPHA:79318 |
Ethylene Glycol Poisoning |
|
Tachypnea, Gastritis, Episodic respiratory distress, Abnormal pattern of respiration |
ORPHA:31826 |
Plague |
|
Respiratory distress, Hepatomegaly, Lymphadenitis, Splenomegaly, Abnormality of the elbow, Entero... |
ORPHA:707 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Macroglossia, Pleural effusion, Apnea |
OMIM:261740 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Apnea, Dyspnea, Episodic respiratory distress, Hyperventilation |
ORPHA:255210 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Intestinal malrotation, Biliary atresia, Pancreatic aplasia, Cervical ribs,... |
ORPHA:2255 |
Alström Syndrome |
|
Respiratory distress, Thoracic scoliosis, Abnormality of dental color, Hepatic fibrosis, Hepatic ... |
ORPHA:64 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Respiratory distress, Gout, Iron deficiency anemia, Chondrocalcinosis |
ORPHA:358 |
Reactive Arthritis |
|
Cartilage destruction, Arthritis, Inflammation of the large intestine, Joint swelling |
ORPHA:29207 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P... |
ORPHA:95455 |
Eisenmenger Syndrome |
|
Respiratory distress, Hepatomegaly, Increased pulmonary vascular resistance, Wheezing, Hypochromi... |
ORPHA:97214 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory failure, Hepatic cysts, Pulmonary lymphangiomyomatosis |
ORPHA:805 |
Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Esophageal stricture, Abnormal rib morphology, Inflammation of the large... |
ORPHA:2908 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Asthma, Nasal flaring |
ORPHA:466943 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Abnormal pancreas morphology, Xerostomia, En... |
ORPHA:449432 |
Leptospirosis |
|
Respiratory distress, Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Cough, Pleural effusion... |
ORPHA:509 |
Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
Immunodeficiency 82 With Systemic Inflammation |
|
Recurrent otitis media, Cholesteatoma |
OMIM:619381 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Respiratory acidosis |
OMIM:614748 |
Liver Disease, Severe Congenital |
|
Recurrent otitis media, Cholesteatoma |
OMIM:619991 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Apneic ep... |
ORPHA:99125 |
Sotos Syndrome |
|
Conductive hearing impairment, Chronic otitis media, Cholesteatoma, Hearing impairment |
ORPHA:821 |