Cervical Vertebral Dysplasia |
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Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
Dwarfism With Tall Vertebrae |
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Increased vertebral height |
OMIM:126950 |
Spondylocostal Dysostosis 5 |
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Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Osteomesopyknosis |
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Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Microcephaly With Cervical Spine Fusion Anomalies |
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Vertebral fusion, Spinal instability |
OMIM:251250 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
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Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Primary Basilar Invagination |
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Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck |
ORPHA:2285 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
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Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Bardet-Biedl Syndrome 10 |
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Renal insufficiency, Retinal dystrophy, Renal cyst, Polydactyly, Hypogonadism, Rod-cone dystrophy |
OMIM:615987 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
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Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
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Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Hemoglobin D Disease |
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Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
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Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum,... |
ORPHA:3268 |
Diaphanospondylodysostosis |
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Short neck, Missing ribs, Short thorax, Enlarged thorax, Absent or minimally ossified vertebral b... |
ORPHA:66637 |
Bardet-Biedl Syndrome 16 |
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Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,... |
OMIM:615993 |
Ankylosing Vertebral Hyperostosis With Tylosis |
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Vertebral hyperostosis |
OMIM:106400 |
Nephronophthisis 14 |
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Retinal degeneration, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
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Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Bardet-Biedl Syndrome 4 |
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Syndactyly, Abnormality of the kidney, External genital hypoplasia, Cryptorchidism, Renal cyst, P... |
OMIM:615982 |
Femoral-Facial Syndrome |
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Short femur, Maternal diabetes, Micrognathia, Renal hypoplasia/aplasia, Cryptorchidism, Long peni... |
ORPHA:1988 |
Brachyolmia, Maroteaux Type |
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Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis |
ORPHA:93302 |
Syndactyly Type 4 |
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1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Osteoarthritis With Mild Chondrodysplasia |
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Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl... |
OMIM:604864 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
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Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Acromesomelic Dysplasia, Maroteaux Type |
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Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral ... |
ORPHA:40 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
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Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... |
ORPHA:163665 |
Galactosialidosis |
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Abnormality of the vertebral column, Abnormal vertebral morphology |
ORPHA:351 |
Acromesomelic Dysplasia 2A |
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Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Polycystic Kidney Disease 5 |
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Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
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Macrocytic anemia, Unilateral cryptorchidism, Sparse eyelashes, Micrognathia, Persistence of hemo... |
OMIM:300946 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Superior rib anomalies, Male hypogonadism, Hypergonadotropic hypogonadism, Abnormality of the cer... |
OMIM:307500 |
Acromesomelic Dysplasia 2C |
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Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Spondylocamptodactyly Syndrome |
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Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
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Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect |
OMIM:608681 |
Isolated Klippel-Feil Syndrome |
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Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... |
ORPHA:2345 |
Multiple Synostoses Syndrome 2 |
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Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Spondylosis, Cervical |
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Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis |
OMIM:184300 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
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Vertebral fusion, Sacral dimple, Short thorax, Vertebral segmentation defect |
OMIM:618845 |
Osebold-Remondini Syndrome |
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Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Kyphomelic Dysplasia |
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Anterior rib cupping, Joint stiffness, Missing ribs, Lateral clavicle hook, Limitation of joint m... |
ORPHA:1801 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
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Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
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Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... |
OMIM:620044 |
RCAD (renal cysts and diabetes) |
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Diabetes mellitus, Multiple renal cysts |
DECIPHER:47 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
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Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
Bardet-Biedl Syndrome 6 |
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Syndactyly, Diabetes mellitus, Hypospadias, External genital hypoplasia, Postaxial polydactyly, R... |
OMIM:605231 |
Endosteal Hyperostosis, Worth Type |
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Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib morphology, Abnormal form of t... |
ORPHA:2790 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Endove Syndrome, Limb-Only Type |
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Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Meckel Syndrome 13 |
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Retinopathy, Polycystic kidney dysplasia, Micrognathia |
OMIM:617562 |
Autosomal Dominant Brachyolmia |
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Increased vertebral height, Platyspondyly, Short thorax, Kyphoscoliosis |
ORPHA:93304 |
Fibular Hemimelia |
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Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Acromesomelic Dysplasia, Grebe Type |
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Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
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Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly |
OMIM:214300 |
Ring Chromosome 21 Syndrome |
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Fused thoracic vertebrae, Abnormal thorax morphology, Azoospermia, Infertility, Scoliosis, Thorac... |
ORPHA:1445 |
Heart Defects-Limb Shortening Syndrome |
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Accelerated skeletal maturation, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... |
ORPHA:1354 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
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Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis |
ORPHA:1436 |
Sprengel Deformity |
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Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Vertebral Hypoplasia With Lumbar Kyphosis |
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Vertebral hypoplasia, Lumbar kyphosis |
OMIM:192900 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
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Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
Familial Congenital Mirror Movements |
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Fused cervical vertebrae, Hypogonadotropic hypogonadism |
ORPHA:238722 |
Odontochondrodysplasia 1 |
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Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widening, Flat acetabul... |
OMIM:184260 |
Acrodysplasia Scoliosis |
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Vertebral segmentation defect, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
Neurogenic Thoracic Outlet Syndrome |
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Abnormal rib morphology |
ORPHA:100073 |
Leri-Weill Dyschondrosteosis |
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Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Léri-Weill Dyschondrosteosis |
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Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Intrinsic Factor Deficiency |
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Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
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Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... |
OMIM:613686 |
Acrocapitofemoral Dysplasia |
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Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Osteogenesis Imperfecta, Type Ix |
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Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Pectus excavatum, Pectus... |
OMIM:259440 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
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Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis |
OMIM:309620 |
Spondylometaphyseal Dysplasia, A4 Type |
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Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends |
ORPHA:168555 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
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Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... |
OMIM:612447 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
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Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Langer Mesomelic Dysplasia |
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Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
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Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Decrea... |
ORPHA:2234 |
Kuskokwim Syndrome |
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Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Joint stiffness, Abnormal form o... |
ORPHA:1149 |
Dehydrated Hereditary Stomatocytosis 2 |
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Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Wildervanck Syndrome |
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Fused cervical vertebrae |
OMIM:314600 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
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Barrel-shaped chest, Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Sho... |
OMIM:178110 |
Autosomal Dominant Spondylocostal Dysostosis |
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Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Auditory Neuropathy, Autosomal Dominant 1 |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Metatropic Dysplasia |
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Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... |
ORPHA:2635 |
Sickle Cell Anemia |
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Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Deafness, Autosomal Recessive 9 |
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Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
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Azoospermia, Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
Lethal Faciocardiomelic Dysplasia |
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Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Osteogenesis Imperfecta, Type Vi |
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Joint laxity, Vertebral compression fracture, Increased susceptibility to fractures, Biconcave ve... |
OMIM:613982 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Renal insufficiency, Diabetes mellitus, Unilateral renal agenesis, Septate vagina, Uterus didelph... |
ORPHA:2237 |
Acheiropody |
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Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
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Syndactyly, Brachydactyly, Hypoplastic scapulae, Hypospadias, Bowing of the long bones, Micromeli... |
OMIM:614091 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Hypoplasia of the ulna, Short digit, Ambiguous genitalia, Metaphyseal spurs, Postaxial polydactyl... |
OMIM:613091 |
Meckel Syndrome, Type 8 |
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Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Low-set ears, Ambiguous genitalia,... |
OMIM:613885 |
Developmental And Speech Delay Due To Sox5 Deficiency |
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Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Pectus carinatum, Scoliosis, But... |
ORPHA:313892 |
Meckel Syndrome, Type 11 |
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Polydactyly, Polycystic kidney dysplasia |
OMIM:615397 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
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Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... |
OMIM:118100 |
Acropectorovertebral Dysplasia |
|
Capitate-hamate fusion, Abnormal thorax morphology, Spina bifida occulta at S1, Spina bifida occu... |
OMIM:102510 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Hematuria, EEG abnormality, Increased... |
OMIM:617021 |
Deafness, Autosomal Recessive 104 |
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Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Decreased motor nerve conduction velocity, Facial palsy, Talipes equinovarus, Abnormal auditory e... |
OMIM:601382 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
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Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Second Metatarsal-Metacarpal Syndrome |
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Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
Rhyns Syndrome |
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Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bon... |
ORPHA:140976 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
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Abnormal vertebral morphology, Short neck |
ORPHA:2015 |
Spinal Dysplasia, Anhalt Type |
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Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Absent spinous processes... |
OMIM:601344 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Polycystic Kidney Disease 7 |
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Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Gillessen-Kaesbach-Nishimura Syndrome |
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Ulnar deviation of the hand, Posteriorly rotated ears, Micrognathia, Frontotemporal hypertrichosi... |
OMIM:263210 |
Renal Hypodysplasia/Aplasia 3 |
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Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... |
OMIM:617805 |
Bone Marrow Failure Syndrome 3 |
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Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... |
OMIM:617052 |
Tibial Hemimelia |
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Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Hemoglobin E Disease |
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Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Brachydactyly, Type B1 |
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Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Camptodactyly, Join... |
OMIM:113000 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Abnormal clavicle morphology, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Abnormal rib... |
ORPHA:2522 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral segmentation defec... |
ORPHA:1836 |
Maternal Uniparental Disomy Of Chromosome 9 |
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Kyphoscoliosis, Short neck, Hamstring contractures, Patellar dislocation, Osteochondrosis, Abnorm... |
ORPHA:96183 |
Oslam Syndrome |
|
Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean corpuscular volume, Abnorma... |
ORPHA:2760 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Cryptorchidism, Delayed skelet... |
ORPHA:2332 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Ovoid vertebral bodies, Enlargement of the costochondral junction, Flat acetabular roof, Pectus c... |
OMIM:609052 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Retinal detachment, Short femur, Rhizomelia, Hypospadias, Sandal gap, Abnormal pin... |
OMIM:607143 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts, Retinal vascular tortuosity |
ORPHA:73229 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck |
OMIM:244600 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... |
OMIM:259450 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ... |
OMIM:616959 |
Methylcobalamin Deficiency Type Cble |
|
Glomerulopathy, Macrocytic anemia, Pancytopenia, Syndactyly, Hemolytic-uremic syndrome, Increased... |
ORPHA:2169 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... |
OMIM:615220 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentatio... |
OMIM:615994 |
Acrorenal-Mandibular Syndrome |
|
Micrognathia, Aplasia of the bladder, Hypoplasia of the ulna, Split hand, Split foot, Bicornuate ... |
OMIM:200980 |
Fibrodysplasia Ossificans Progressiva |
|
Spinal rigidity, Limitation of joint mobility, Ectopic ossification in ligament tissue, Ectopic o... |
ORPHA:337 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Micrognathia, Short thumb, Persistence of hemoglobin F, Increased mean corpusc... |
OMIM:612561 |
Gorlin Syndrome |
|
Vertebral fusion, Hypogonadotropic hypogonadism, Cryptorchidism, Hemivertebrae, Vertebral wedging... |
ORPHA:377 |
Abcd Syndrome |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Albin... |
OMIM:600501 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Micrognathia, Metatarsus adductus, Cryptorchidism, Optic nerve dysplasia, Pigmentary retinopathy,... |
OMIM:214110 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Thoracolaryngopelvic Dysplasia |
|
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... |
OMIM:187760 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Low-set ears, Epiphyseal stippling, Polycystic kidney dysplasia |
OMIM:614859 |
Metatropic Dysplasia |
|
Enlarged joints, Flexion contracture, Long coccyx, Narrow chest, Flaring of rib cage, Anisospondy... |
OMIM:156530 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:253290 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Short thumb, Horseshoe kidney, Increased mean corpuscular volume, Atresia of t... |
OMIM:612562 |
Mckusick-Kaufman Syndrome |
|
Syndactyly, Hydroureter, Congenital hip dislocation, Mesoaxial hand polydactyly, Aganglionic mega... |
OMIM:236700 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Axial malrotation of the kidney, Phocomelia, Genu v... |
ORPHA:3320 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De... |
ORPHA:485 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Short neck, Multiple joint dislocation, Hip dislocation, Thin ribs, Irregular verte... |
OMIM:618395 |
Becker Nevus Syndrome |
|
Cervical ribs, Pectus excavatum, Hemivertebrae, Scoliosis |
OMIM:604919 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Mixed hearing impairment, Congenital hip dislocation, Facial palsy, Unilateral... |
OMIM:113650 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Talipes, Micrognathia, Tapered finger, Urethral stenosis, Ge... |
ORPHA:261290 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica... |
ORPHA:1426 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Posteriorly rotated ears, Micrognathia, Fibular hypoplasia, Ta... |
OMIM:201170 |
16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Proximal placement of thumb, Micrognathia, Highly arched eyebrow, Cryptor... |
ORPHA:261250 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Slc35A2-Cdg |
|
Camptodactyly of finger, Coxa valga, Metatarsus adductus, Precocious puberty, Sensorineural heari... |
ORPHA:356961 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... |
ORPHA:1215 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:606612 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Reduced bone mineral density, Pectus carinatum, Abnormal bone ossification, Abnormal ... |
ORPHA:93315 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Micromelia, Micrognathia, Postaxial polydactyly, Missing ribs, Ulnar bowing, Preax... |
OMIM:617866 |
Distal Triplication 15Q |
|
Arachnodactyly, Abnormality of the kidney, Abnormal external genitalia, Micrognathia, Sensorineur... |
ORPHA:314588 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi... |
ORPHA:2916 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Bowing of the long bones, Polycystic kidney dysplasia, Polysplenia |
OMIM:211890 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of the costochondral junction, Osteoarthrit... |
OMIM:271650 |
Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Micrognathia, Low anterior hairline, Reticulocytopenia, Leukopenia, Tripha... |
ORPHA:124 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... |
ORPHA:3103 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Limitation of joint mobility, Abnormal rib morphology, Abnormal carpal morphology... |
ORPHA:93351 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Type II diabet... |
OMIM:616860 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... |
ORPHA:320401 |
Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin... |
ORPHA:552 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures |
ORPHA:85193 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Pectus excavatum, Supernumerary ribs, Six lumbar vertebrae, Joint hypermobility |
OMIM:619122 |
Joubert Syndrome 20 |
|
Postaxial polydactyly, Retinopathy, 4-5 toe syndactyly, Renal cyst |
OMIM:614970 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Cryptorchidism, Joint hyp... |
ORPHA:915 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia |
OMIM:258865 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal rib morphology, Abnormali... |
ORPHA:1486 |
Poland Syndrome |
|
Sprengel anomaly, Short ribs, Rib fusion, Hemivertebrae |
OMIM:173800 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Micrognathia, Renal cyst, Hypospadias, Cryptorchidism, Hepatosplenomegaly, Epiphyseal stippling, ... |
OMIM:614866 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Arima Syndrome |
|
Proteinuria, Polyuria, Retinal dystrophy, Postaxial hand polydactyly, Optic atrophy, Stage 5 chro... |
OMIM:243910 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand polydactyly, Triphalangea... |
ORPHA:2091 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Ureteral duplication, Renal insufficiency, Nonketotic hypoglycemia, Tapered toe, Poster... |
OMIM:608836 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Trident acetabulum, Acetabular spurs, Short ribs, Narrow chest, Horizontal... |
OMIM:617405 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... |
ORPHA:90650 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Maternal diabetes, Micrognathia, Micropenis, Cryptorchidism, Humeroradia... |
OMIM:134780 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentials, Geogra... |
OMIM:619260 |
Congenital Disorder Of Glycosylation, Type Il |
|
Low-set ears, Hip dislocation, Polycystic kidney dysplasia, Hepatosplenomegaly |
OMIM:608776 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplasia, Metaphys... |
ORPHA:811 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... |
OMIM:145001 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Short neck, Hemivertebrae, Hip dislocation, Scoliosis |
OMIM:615583 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:607155 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of... |
ORPHA:628 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Joubert Syndrome 16 |
|
Retinal dystrophy, Polydactyly, Renal cyst, Nephronophthisis |
OMIM:614465 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Short neck, Cryptorchidism, Abnormal rib morphology, Narrow chest |
ORPHA:1703 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re... |
ORPHA:1475 |
Caudal Regression Syndrome |
|
Missing ribs, Joint stiffness, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, Hypoplastic vert... |
ORPHA:3027 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Splenom... |
OMIM:263200 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Camptodactyly of finger,... |
ORPHA:2311 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Microgna... |
OMIM:619879 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab... |
OMIM:616549 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Multicystic kidne... |
OMIM:619774 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Retinal dystrophy, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shorte... |
OMIM:263520 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Multicystic kidney dysplasia, Talipes equinovarus, Ambiguous genitalia |
OMIM:614209 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Narrow chest, D... |
ORPHA:93267 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Cupped ribs, Flat acetabular roof, Irregular vertebral endplates, Platyspon... |
OMIM:609616 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Postaxial hand polydactyly, Hydrometrocolpos, Cystic renal dysplasia, Postaxial foot... |
OMIM:615989 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m... |
OMIM:611590 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Aplasia/Hypoplasia of the ri... |
ORPHA:168549 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Sparse eyebrow, Cryptorchidism, Squared ili... |
OMIM:616300 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilocytosis, Hypoc... |
OMIM:615234 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Abnormal pinna morphology, Hypoglycemia, Glutaric aciduria, Generalized aminoaciduria, Renal cort... |
OMIM:231680 |
Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Cervical kyphosis, Elbow dislocation, Cryptorchidism, Pectus exca... |
OMIM:150250 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars... |
OMIM:609945 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Sparse hair, Short tibia, ... |
OMIM:601559 |
Bardet-Biedl Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys... |
ORPHA:110 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Kyphosis, Cryptorchidism, Spinal canal stenosis, Fused ... |
ORPHA:1724 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Scapular winging, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck... |
OMIM:272460 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Macrocytic anemia, Congenital hypoplastic anemia, Micrognathia, Short thumb, Ab... |
OMIM:105650 |
Papillorenal Syndrome |
|
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc... |
OMIM:120330 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Sparse eyelashes, Micrognathia, Sparse ey... |
OMIM:250410 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
Fanconi Anemia, Complementation Group O |
|
External genital hypoplasia, Proximal placement of thumb, Absent thumb, Short thumb, Cryptorchidi... |
OMIM:613390 |
Frontometaphyseal Dysplasia 1 |
|
Scapular winging, Dislocated radial head, Limited elbow movement, Interphalangeal joint contractu... |
OMIM:305620 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Cryptorchidism, Facet joint arthrosis, Osteoarthritis... |
OMIM:618000 |
Joubert Syndrome 39 |
|
Postaxial polydactyly, Retinal dystrophy, Joint contracture of the 5th finger, Polycystic kidney ... |
OMIM:619562 |
Ulbright-Hodes Syndrome |
|
Maternal diabetes, Micrognathia, Phocomelia, Abnormal penis morphology, Short metacarpal, Abnorma... |
ORPHA:3404 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm... |
ORPHA:86839 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Lamb-Shaffer Syndrome |
|
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... |
ORPHA:1145 |
Becker Nevus Syndrome |
|
Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi... |
ORPHA:64755 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty... |
OMIM:119100 |
White Forelock With Malformations |
|
Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, Sprengel anomaly, S... |
ORPHA:2475 |
Fibrochondrogenesis 2 |
|
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia |
OMIM:614524 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
Distal Deletion 12Q |
|
Ectopic kidney, Micrognathia, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Clinoda... |
ORPHA:96149 |
15q26 overgrowth syndrome |
|
Long toe, Renal agenesis, Abnormality of the kidney, Arachnodactyly, Micrognathia, Tapered finger... |
DECIPHER:81 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple... |
OMIM:613095 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Septate vagina, Sensorineural hearing impairment, Chronic kidney disease, Thickened ... |
OMIM:146255 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Flaring of rib c... |
OMIM:612852 |
Juberg-Hayward Syndrome |
|
Abnormality of the elbow, Abnormal rib morphology, Radioulnar synostosis, Scoliosis, Abnormality ... |
ORPHA:2319 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... |
OMIM:269250 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Long clavicles, Elbow dislocation, Lateral clavicle hook, Anterior vertebral fusion, Shoulder dis... |
OMIM:171480 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Protruding ear, Clinodactyly of the 5th finger, Short ... |
OMIM:268305 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Tapered finger, Micrognathia, Proximal renal tubular acidosis,... |
OMIM:181180 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Homocystinuria, Methylmalonic aciduria, Megaloblastic anemia |
OMIM:277410 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Hyperlordosis, Short neck, Kyphosis, Delayed skeletal maturation, Short thorax... |
ORPHA:582 |
Hajdu-Cheney Syndrome |
|
Thick eyebrow, Hypospadias, Short nail, Micrognathia, Absent frontal sinuses, Cryptorchidism, Syn... |
OMIM:102500 |
Joubert Syndrome 7 |
|
Retinal dystrophy, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney dise... |
OMIM:611560 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Join... |
ORPHA:2759 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Alopecia, Aplastic anemia, Anemia, Leukopenia, Premature graying of hair, Increased mean corpuscu... |
OMIM:127550 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Hemivertebrae, Irregular ossification o... |
OMIM:109400 |
Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... |
OMIM:620076 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Lateral clavicle hook, Cryptorchidism, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Hori... |
OMIM:615633 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... |
OMIM:602196 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Micromelia, Postaxial polydactyly, Preaxial polydactyly, Retinal coloboma, Sho... |
OMIM:616546 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Pectus excavatum, Kyphosis, Cryptorchidism, Sclerosis of skull base... |
OMIM:130720 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Recurrent fractures, Joint hypermobility, Thin ribs, Biconcave vertebral bodies, Wo... |
OMIM:617952 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scoliosis, Sprenge... |
ORPHA:2180 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Low posterior hairline, Long eyelashes, B... |
OMIM:617523 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... |
OMIM:251230 |
3M Syndrome |
|
Scapular winging, Congenital hip dislocation, Hyperlordosis, Short neck, Increased vertebral heig... |
ORPHA:2616 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hy... |
OMIM:253000 |
Grant Syndrome |
|
Joint dislocation, Abnormal rib morphology, Joint hyperflexibility, Narrow chest, Wormian bones, ... |
ORPHA:2097 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Pes planus, Short metacarpal, Absent eyebrow, Alopecia, Micrognathia, Absent eyela... |
ORPHA:166035 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Hypogonadotropic hypogonadism, Missing ribs, Cryptorchidism, Rib fusion, Hemive... |
OMIM:206900 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Micrognathia, Renal cyst, Low-set ears, Gonadal dysgenesis, male |
OMIM:231060 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Limited elbow extension, Flat ace... |
OMIM:608728 |
Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Absent ossification of calvaria, T... |
OMIM:166210 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Low-set ears, Epiphyseal stippling, Renal cyst |
OMIM:614870 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Platyspondyly, Delayed ossificati... |
ORPHA:93346 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... |
OMIM:265000 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ... |
ORPHA:231222 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Pectus excavatum, Kyphosis, Cryptorchidism, Hip dislocation, Joint hyperflexibi... |
ORPHA:96169 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Phelan-Mcdermid Syndrome |
|
Abnormality of the kidney, Micrognathia, 2-3 toe syndactyly, Protruding ear, Large hands, Long ey... |
OMIM:606232 |
Achondrogenesis Type 1B |
|
Abnormal enchondral ossification, Short neck, Short thorax, Abnormal rib morphology, Narrow chest |
ORPHA:93298 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Multiple rib fractures, Recurrent fractures, Beaded ribs, Platyspondyly, Decreased ca... |
OMIM:616229 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bo... |
OMIM:608940 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Glucose intolerance, Atretic vas deferens, Hypospadias, Abnormality of the kidney, Re... |
OMIM:137920 |
Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Delayed epiphyseal ossification, Preaxial polydactyly, Renal cyst, Knee... |
OMIM:210710 |
Atelosteogenesis, Type I |
|
11 pairs of ribs, Long clavicles, Short neck, Thoracic platyspondyly, Cryptorchidism, Elbow dislo... |
OMIM:108720 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Hyperlordosis, Short neck, Delayed epiphyseal ossification, Premature osteoarthriti... |
ORPHA:93352 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Satoyoshi Syndrome |
|
Abnormality of the knee, Tapered finger, Abnormality of the humerus, Abnormal hair morphology, Ab... |
ORPHA:3130 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Eiken Syndrome |
|
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity,... |
ORPHA:2751 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Down-sloping shoulders, Joint stiffness, Pectus excavatum, Kyphosis... |
ORPHA:392 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Abnormal pinna morphology, Postaxial polydactyly, Micrognathia, Septate vagina, Preaxial polydact... |
OMIM:617925 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon... |
OMIM:619698 |
Pseudoachondroplasia |
|
Joint laxity, Lumbar hyperlordosis, Genu recurvatum, Limited hip extension, Spatulate ribs, Ulnar... |
OMIM:177170 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal ... |
OMIM:609441 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Abnormal pinna morphology, Hypoglycemia, Glutaric aciduria, Lacticaciduria, 3-Methylglutaric acid... |
ORPHA:26791 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Meckel Syndrome, Type 1 |
|
External genital hypoplasia, Micrognathia, Asplenia, Ambiguous genitalia, female, Ambiguous genit... |
OMIM:249000 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... |
ORPHA:157 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Syndactyly, Dry hair, Alopecia, Proteinuria, Hearing impairment, Pancreatic cy... |
OMIM:311200 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Flat acetabular roof, Thin ribs, ... |
OMIM:151210 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Abnormal rib morphology, Decreased ... |
ORPHA:2970 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Irregular sclerotic endplates, Osteoarthritis, Delayed skeletal maturation, Platyspondyly, Flared... |
OMIM:602111 |
Chromosome 17Q12 Deletion Syndrome |
|
Micrognathia, Renal cyst, Protruding ear, Short palm, Long toe, Multicystic kidney dysplasia, Hig... |
OMIM:614527 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney diseas... |
OMIM:208500 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Pectus carinatu... |
OMIM:617796 |
Phaver Syndrome |
|
Camptodactyly of finger, Joint stiffness, Abnormal rib morphology, Abnormal form of the vertebral... |
ORPHA:2876 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology |
ORPHA:1513 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, Abnormal form... |
ORPHA:2021 |
Cole-Carpenter Syndrome |
|
Recurrent fractures, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Jo... |
ORPHA:2050 |
Floating-Harbor Syndrome |
|
Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Conductive hearing impairment, Dislocated r... |
ORPHA:2044 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Neutropenia, Nephropathy,... |
OMIM:617056 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Talipes cavus equinovar... |
OMIM:601455 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Cryptorchidism, Abnormal rib morphology, Joint hyperflexibility, Decreased c... |
ORPHA:2772 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Renal hypoplasia/aplasia, Hand oligodactyly, Fibular hypopl... |
ORPHA:1788 |
Kbg Syndrome |
|
Vertebral fusion, Short neck, Cryptorchidism, Delayed skeletal maturation, Rib fusion, Vertebral ... |
OMIM:148050 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly |
OMIM:617333 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Missing ribs, Abnormal rib morphology, Reduced bone mineral density, Joi... |
ORPHA:1488 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Diabetes mellitus, Pancreatic cysts, Splenomegaly, Sensorineural hearing impairment, Renal cyst, ... |
OMIM:610199 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... |
OMIM:151200 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria |
OMIM:252900 |
Postaxial Acrofacial Dysostosis |
|
Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Radioulnar synostosis, Supernumerar... |
OMIM:263750 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cryptorchidism, Prea... |
OMIM:603671 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... |
ORPHA:228308 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypogonadotropic hypogonadism, Hyperlordosis, Delayed skeletal maturation, Limitation of joint mo... |
ORPHA:3068 |
Dominant Beta-Thalassemia |
|
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... |
ORPHA:231226 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Abnormality of the vertebral endplates, Hypoplasia of the o... |
ORPHA:239 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver... |
OMIM:619227 |
Achondrogenesis, Type Ia |
|
Barrel-shaped chest, Hypoplastic sacrum, Hypoplastic scapulae, Beaded ribs, Short neck, Abnormal ... |
OMIM:200600 |
Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Highly arched eyebrow, Synophry... |
OMIM:618161 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Optic disc pallor, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulde... |
OMIM:274000 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Radioulnar synostosis, Multicystic kidney dysplasia, Protruding ear |
ORPHA:3270 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Az... |
ORPHA:300298 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Retinal arteriolar tortuosity, Retinal hemorrhage, Renal cyst, Hematuria |
OMIM:611773 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... |
OMIM:619902 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Flat glenoid fossa, Pectus carinatum, Thoracic kyphosis, Multicentric ossification of... |
OMIM:223800 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Platyspondyly, Decreased skull ossification, Thin ribs |
OMIM:300863 |
Melnick-Needles Syndrome |
|
Delayed cranial suture closure, Short thorax, Abnormal rib morphology, Hip dislocation, Osteolyti... |
ORPHA:2484 |
Beta-Thalassemia Major |
|
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... |
ORPHA:231214 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
Joubert Syndrome 18 |
|
Trident pelvis, Bowing of the long bones, Postaxial polydactyly, Renal cyst, Horseshoe kidney, Ta... |
OMIM:614815 |
Omodysplasia 2 |
|
Short humerus, Hypospadias, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Overfolded he... |
OMIM:164745 |
Trisomy 13 |
|
Abnormal retinal vascular morphology, Cryptorchidism, Postaxial hand polydactyly, Sensorineural h... |
ORPHA:3378 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Vertebral fusion, Sacral dimple, Hyperextensibility of the finger joints, Craniosynostosis, Short... |
OMIM:213980 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Asplenia, Splenomegaly, Pancreatic cysts, Ureteral atresia, Stage 5 chronic ... |
OMIM:208540 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Micrognathia, Renal hypoplasia/aplasia, Cryptorchidism, Protruding ear, Multiple renal cysts, Abn... |
ORPHA:1166 |
Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria, Joint stiffness |
OMIM:252920 |
Trisomy X |
|
Clinodactyly of the 5th finger, Multicystic kidney dysplasia, Hip dysplasia, Renal hypoplasia/apl... |
ORPHA:3375 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion |
ORPHA:370010 |
Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... |
ORPHA:52368 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Renal hypoplasia, Renal cyst, 2-3 toe syndactyly, Ureteral agenesis, Cutaneous... |
OMIM:236500 |
Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts |
ORPHA:3033 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of verteb... |
OMIM:252930 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Down-sloping shoulders, Pectus excavatum, Cryptorchidism, Hyperextensible hand ... |
OMIM:227330 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Peripheral retinal avascularization, External genital hypoplasia, Micrognathia, Tibial bowing, Hy... |
ORPHA:96334 |
Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Small scrotum, Clitoral hypertrophy, Sparse scalp ... |
ORPHA:85201 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Short neck, Cryptorchidism, Kyphosis, Abnormal rib morphology, Pectus carinatum |
ORPHA:3082 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Pectus excavatum, Kyphosis, Cryptorchid... |
OMIM:610443 |
Sifrim-Hitz-Weiss Syndrome |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Flat acetabular roof, Fused cervical vertebrae, Sh... |
OMIM:617159 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Pla... |
OMIM:616294 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Hypoplasia of the thymus, Abnormality of the uterus, Conductive hearing impairment,... |
ORPHA:567 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Micrognathia, Short metatarsal, Renal cyst, Macular degeneration, Nephronop... |
OMIM:266920 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Thoracic hypoplasia, Short neck, Thin... |
OMIM:228520 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Sparse hair, Accessory splee... |
OMIM:268300 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Talipes equinovarus, Short tibia, Short femur, Glandular hypospadias |
OMIM:620306 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Stippling of the epiphyses of the distal phalanges of the hand, Calcaneal epiphyseal stippling, C... |
ORPHA:79345 |
Ogden Syndrome |
|
Congenital hip dislocation, Maternal diabetes, Micrognathia, Protruding ear, Iron deficiency anem... |
OMIM:300855 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Renal hypoplasia/aplasia, Micrognathia, Abnormality of the spleen, Missi... |
ORPHA:1834 |
Cornelia De Lange Syndrome 1 |
|
Micromelia, Ectopic kidney, Micrognathia, Proximal placement of thumb, Synophrys, Renal cyst, Ves... |
OMIM:122470 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Hearing impairment, Sensorineu... |
OMIM:220500 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Barrel-shaped chest, Recurrent fractures, Multiple prenatal fractures, ... |
OMIM:610915 |
Vacterl Association With Hydrocephalus |
|
Stillbirth, Abnormality of the vertebral column, Abnormal vertebral morphology |
OMIM:276950 |
Dent Disease 1 |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow... |
OMIM:300009 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Joint laxity, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Missing ... |
OMIM:268310 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,... |
ORPHA:474 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Delayed closure of the anterior fontanelle, Sclerotic scapula... |
OMIM:224300 |
Satoyoshi Syndrome |
|
Pes planus, Short metacarpal, Alopecia, Short metatarsal, Osteolytic defects of the phalanges of ... |
OMIM:600705 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, Ab... |
ORPHA:90652 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Stillbirth, Short ribs, Horizontal ribs |
OMIM:200610 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Alopecia, Rickets of the lower limbs, Delayed epiphy... |
OMIM:600785 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Joint laxity, Generalized joint laxity, T... |
OMIM:613848 |
Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Hypospadias, Abnormal pinna morphology, Postaxial polydactyly, Posta... |
OMIM:614175 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Shoulder flexion contracture, Rocker bottom foot, Abnormal auditory evoked poten... |
OMIM:193700 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Short neck, Cryptorchidism, Limitation of joint mobility, Abnormal rib m... |
ORPHA:96061 |
Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Genu valgum, Broad ribs |
ORPHA:583 |
Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly,... |
OMIM:206920 |
Neuromuscular Oculoauditory Syndrome |
|
Posteriorly rotated ears, Simple ear, Chorioretinal lacunae, Retinal pigment epithelial mottling,... |
OMIM:618733 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Increased mean platelet volume, Splenomegaly, Woolly hair... |
ORPHA:84064 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula... |
ORPHA:958 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Hip dislocation, Abnormal auditory evoked potentials, Coxa valga |
OMIM:109120 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Joint stiffnes... |
OMIM:253010 |
Braddock-Carey Syndrome 1 |
|
Curly hair, Multicystic kidney dysplasia, Posteriorly rotated ears, Small hand, Talipes equinovar... |
OMIM:619980 |
Cenani-Lenz Syndrome |
|
Elbow dislocation, Abnormal rib morphology, Hip dislocation, Abnormal form of the vertebral bodie... |
ORPHA:3258 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta... |
ORPHA:97362 |
Trisomy 10P |
|
Thumb contracture, Posteriorly rotated ears, Abnormality of the kidney, Abnormal auditory evoked ... |
ORPHA:171929 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
3Q29 Microdeletion Syndrome |
|
Pectus carinatum, Joint hyperflexibility, Pectus excavatum, Six lumbar vertebrae |
ORPHA:65286 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Sparse eyebrow, ... |
ORPHA:73246 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Talipes, Micromelia, Micrognathia, ... |
ORPHA:2879 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Retinal astrocytic hamartoma, Retinal hamartoma, ... |
ORPHA:805 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,... |
ORPHA:2973 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Renal insufficiency, Proteinuria, Foot joint contracture, Cr... |
ORPHA:90321 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Crypto... |
OMIM:258315 |
Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Renal agenesis, Frontal balding, Synophrys, Protruding ear, Hypoplasia of the uter... |
ORPHA:247768 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:3035 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Rib fusion, Supernumerary ribs, Scoliosis, Bifid ribs, Butterfly v... |
ORPHA:50 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
Cerebrofaciothoracic Dysplasia |
|
Short neck, Hemivertebrae, Rib fusion, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... |
ORPHA:1394 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
Shashi-Pena Syndrome |
|
Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion |
OMIM:617190 |
Hypophosphatasia |
|
Narrow chest, Abnormal rib morphology, Recurrent fractures, Craniosynostosis |
ORPHA:436 |
Autosomal Recessive Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Micrognathia, Hypersplenism, Splenomegal... |
ORPHA:731 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology, Joint stiffness |
ORPHA:2167 |
Waardenburg Syndrome, Type 1 |
|
Sprengel anomaly, Supernumerary ribs, Supernumerary vertebrae |
OMIM:193500 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Greenberg Dysplasia |
|
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Hypoplastic v... |
OMIM:215140 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, B... |
OMIM:230500 |
Renpenning Syndrome |
|
Joint stiffness, Pectus excavatum, Abnormal rib morphology, Sprengel anomaly, Decreased testicula... |
ORPHA:3242 |
Renal And Mullerian Duct Hypoplasia |
|
Micrognathia, Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele... |
OMIM:266810 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Abnorm... |
ORPHA:107 |
Mosaic Trisomy 1 |
|
Renal cyst, Finger clinodactyly, Micropenis, Absent distal interphalangeal creases, Microretrogna... |
ORPHA:1692 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsa... |
ORPHA:2473 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Alopecia, External genital hypoplasia, Sensorineural hearing... |
ORPHA:79330 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Bifid ribs, Scolios... |
OMIM:304050 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Renal cyst, Protruding ear, Chor... |
ORPHA:2031 |
2P15P16.1 Microdeletion Syndrome |
|
Protruding ear, Multicystic kidney dysplasia, Facial palsy, Tapered finger, Sparse eyebrow, EEG a... |
ORPHA:261349 |
Coach Syndrome 1 |
|
Optic disc pallor, Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts,... |
OMIM:216360 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Abnormal pinna morphology, Micrognathia, Bifid uterus, Preaxial ha... |
OMIM:236680 |
Mucolipidosis Iii Alpha/Beta |
|
Craniosynostosis, Irregular carpal bones, Short ribs, Scoliosis, Broad ribs, Shallow acetabular f... |
OMIM:252600 |
Cockayne Syndrome A |
|
Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac win... |
OMIM:216400 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... |
ORPHA:2769 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Pes planus, Transient neutropenia, Long foot, Bowing of the legs, Long hallux,... |
OMIM:617107 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed ep... |
OMIM:300554 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Renal cyst, Micropenis, Distal shortening of limbs, Syndactyly, Mesoaxial foot po... |
OMIM:146510 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Tibial bowing, Protruding ear, Long hallux, Multicystic kidney dysplasia, ... |
ORPHA:500095 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Cryptorchidism, Hemivertebrae, Abnormal vertebral morphology |
ORPHA:77298 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Delayed skeletal maturation, Abnormal rib morphology |
ORPHA:2643 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Sparse axillary hair, Bilateral cryptorc... |
ORPHA:99429 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Abnormal chorioretinal morphology, Micrognathia, Exter... |
ORPHA:912 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Vertebral arch anomaly, Wormian bones, Broad ribs |
ORPHA:85184 |
Cantú Syndrome |
|
Ovoid vertebral bodies, Short neck, Accelerated skeletal maturation, Delayed skeletal maturation,... |
ORPHA:1517 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Cousin Syndrome |
|
Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Low anterior hairline, Am... |
OMIM:260660 |
Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... |
ORPHA:1826 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Trisomy 20P |
|
Micrognathia, Low anterior hairline, Protruding ear, Coarse hair, Low-set, posteriorly rotated ea... |
ORPHA:261318 |
Vacterl/Vater Association |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys... |
ORPHA:887 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Irregular chondrocostal junc... |
OMIM:250420 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platy... |
OMIM:618019 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Septo-optic dysplasia, Missing ribs, Micrognathia, Cryptorchidism, ... |
ORPHA:3301 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Short metatarsal, Triphalangeal thumb, Chorioretinal coloboma, Vesicoureteral refl... |
OMIM:107480 |
Estrogen Resistance |
|
Impaired glucose tolerance, Hyperinsulinemia, Polycystic ovaries, Hypoplasia of the uterus, Gluco... |
OMIM:615363 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Diabetes mellitus, Renal hypoplasia/aplasia, C... |
ORPHA:261265 |
Alagille Syndrome |
|
Cryptorchidism, Delayed skeletal maturation, Abnormal rib morphology, Abnormal form of the verteb... |
ORPHA:52 |
Seckel Syndrome 10 |
|
Microretrognathia, Retinal detachment, Diabetes mellitus, Impaired glucose tolerance, Elevated he... |
OMIM:617253 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, D... |
ORPHA:93111 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Postaxial polydactyly, Micrognathia, Highly arched eyebrow, Trichiasis, Sen... |
OMIM:618460 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Multicystic kidney dysplasia, Short metacarpal, Toe syndactyly, Sparse scalp h... |
ORPHA:1001 |
Seckel Syndrome 1 |
|
11 pairs of ribs, Pes planus, Pancytopenia, Ivory epiphyses, Hypospadias, Abnormal finger flexion... |
OMIM:210600 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac... |
ORPHA:268882 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Aplasia/hypoplasia of the extremities, Femoral bowing, Anteriorly displaced genita... |
OMIM:276820 |
Joubert Syndrome 1 |
|
Optic disc pallor, Retinal dystrophy, Highly arched eyebrow, Postaxial hand polydactyly, Optic di... |
OMIM:213300 |
Fanconi Anemia, Complementation Group I |
|
Fused cervical vertebrae, Short neck |
OMIM:609053 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Sensorineural hearing impairment, Optic atrophy, Renal cyst, Epiphyseal stippling,... |
OMIM:601539 |
Joubert Syndrome 2 |
|
Renal insufficiency, Retinal dystrophy, Abnormal foot morphology, Postaxial hand polydactyly, Opt... |
OMIM:608091 |
Charcot-Marie-Tooth Disease Type 1F |
|
Proximal lower limb amyotrophy, Absent brainstem auditory responses, Urinary incontinence, Optic ... |
ORPHA:101085 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal... |
OMIM:158330 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the sternum, Short neck, Missing ribs, Kyphosis, Cryptorchidism, Hemiverteb... |
ORPHA:2911 |
Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Hearing impairment, Mic... |
OMIM:618150 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Vertebral segmentation defect, Abnormal rib morphology |
ORPHA:1120 |
Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
Myhre Syndrome |
|
Vertebral fusion, Short neck, Joint stiffness, Cryptorchidism, Limitation of joint mobility, Enla... |
OMIM:139210 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Abnormal fallopian tube morphology, Rocker bottom foot, Micromelia, Microgna... |
ORPHA:99776 |
Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Preaxial hand polydactyly, Duplication of phalanx of hallux, Renal cyst, Hepatic cysts |
OMIM:263630 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Clitoral hypoplasia, Cutaneous finger syndactyly, Short palm, Accessory spleen, Highly arched eye... |
OMIM:618419 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Bilateral ... |
OMIM:617914 |
Meckel Syndrome, Type 5 |
|
Postaxial foot polydactyly, Bowing of the long bones, Postaxial hand polydactyly, Renal cyst |
OMIM:611561 |
Campomelic Dysplasia |
|
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Male ... |
ORPHA:140 |
Isolated Polycystic Liver Disease |
|
Multiple renal cysts |
ORPHA:2924 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Recurrent fractures, Down-sloping shoulders, Abnormal sacrum morphology, Sp... |
ORPHA:1452 |
Campomelia, Cumming Type |
|
Abnormal thorax morphology, Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:1318 |
Trisomy 1Q |
|
Microretrognathia, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of... |
ORPHA:261344 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Cockayne Syndrome B |
|
Renal insufficiency, Dry hair, Proteinuria, Abnormal pinna morphology, Abnormal auditory evoked p... |
OMIM:133540 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Joint stiffness, Cryptorchidism, Abnormal rib morphology, Popliteal pterygium, Scoliosis |
ORPHA:1300 |
Caroli Disease |
|
Splenomegaly, Leukocytosis, Polycystic kidney dysplasia |
ORPHA:53035 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Triphalangeal thum... |
ORPHA:857 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Micrognathia, Sensorineural hearing impairment, Agonadism, Hydron... |
OMIM:154230 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Multifocal ep... |
OMIM:615398 |
Peutz-Jeghers Syndrome |
|
Melanonychia, Enlarged polycystic ovaries, Abnormality of the ureter, Renal cell carcinoma, Multi... |
ORPHA:2869 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Simpson-Golabi-Behmel Syndrome |
|
Vertebral fusion, Congenital hip dislocation, Camptodactyly of finger, Short neck, Accelerated sk... |
ORPHA:373 |
Joubert Syndrome 14 |
|
Posteriorly rotated ears, Postaxial polydactyly, Morning glory anomaly, Highly arched eyebrow, Op... |
OMIM:614424 |
Caroli Syndrome |
|
Abnormality of the kidney, Hypersplenism, Leukocytosis, Leukopenia, Polycystic kidney dysplasia, ... |
ORPHA:480520 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Rocker bottom foot, Micrognathia, Renal hypoplasia, Hypoplasia of the uterus... |
OMIM:616258 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... |
OMIM:164900 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Lateral clavicle hook, Flexion contracture, Hemivertebrae, Flat glenoid fossa, P... |
OMIM:224690 |
Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck |
ORPHA:1780 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Optic neuropathy, Abnormal auditory evoked potentials, Abnormal retinal vascul... |
ORPHA:909 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... |
ORPHA:206443 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Micrognathia, Cryptorchidism, Postaxial hand polydacty... |
ORPHA:2075 |
Antley-Bixler Syndrome |
|
Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, Abnormal rib mor... |
ORPHA:83 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Posteriorly rotated ears, Tapered finger, Micrognathia, Sparse eyeb... |
OMIM:618829 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Retinal detachment, Flexion contracture of finger, Optic disc pallor, Hypospadias, Unilateral ren... |
ORPHA:464311 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Multicystic kidney dysplasia, Renal agenesis, Aplastic clavicl... |
ORPHA:2538 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Posteriorly rotated ears, Highly arched eyebrow, Micrognathia, Supernumerary nippl... |
OMIM:618454 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Beaded ribs, Enlargement of the costochondral junction, Sacroiliac joint synovi... |
ORPHA:89936 |
Short-Rib Thoracic Dysplasia 12 |
|
Ambiguous genitalia, Hypoplastic scapulae, Posteriorly rotated ears, Abnormal pinna morphology, B... |
OMIM:269860 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Sensorineural hearing impairment, Papillary cystadenoma of the epididymis, Rena... |
OMIM:193300 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal rib morphology, Craniosynostosis |
ORPHA:2145 |
Duane Retraction Syndrome |
|
Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Abnormal ... |
ORPHA:233 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
Pyknoachondrogenesis |
|
Abnormal intramembranous ossification, Short thorax, Poorly ossified vertebrae, Enlarged thorax, ... |
ORPHA:3003 |
Occipital Horn Syndrome |
|
Coxa vara, Humerus varus, Coarse hair, Short palm, Large iliac wing, Aplastic clavicle, Abnormal ... |
ORPHA:198 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Abnormal scapula morphology, Accelerated skeletal maturation, Delayed skeletal maturation, Abnorm... |
ORPHA:93317 |
Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Flaring of lower rib cag... |
ORPHA:175 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Hypochromic microcytic anemia, Vestibular areflexia, Thrombo... |
ORPHA:3240 |
Apert Syndrome |
|
Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, Cryptorchidism, Delayed epip... |
OMIM:101200 |
Meckel Syndrome, Type 6 |
|
Abnormal internal genitalia, Postaxial hand polydactyly, Renal cyst, Horseshoe kidney, Postaxial ... |
OMIM:612284 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cervical hemivertebrae, Short neck, Pectus ex... |
ORPHA:508498 |
Castleman Disease |
|
Renal insufficiency, Anemia, Decreased mean corpuscular volume, Hematuria, Ureteral obstruction, ... |
ORPHA:160 |
Schwartz-Jampel Syndrome |
|
Short neck, Pectus carinatum, Wrist flexion contracture, Abnormally ossified vertebrae, Increased... |
ORPHA:800 |
Radio-Renal Syndrome |
|
Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3015 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Limitation of joint mobility, Undulate ribs, Flat ac... |
OMIM:211350 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Infection associa... |
ORPHA:445038 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Kyphosis, Cryptorchidism, Delaye... |
OMIM:194190 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Narrow chest, Abnormality of the wrist, Abnormal vertebral morphology, Elbow... |
ORPHA:95699 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Kyphoscoliosis, Missing ribs, Cryptorchidism, Rib fusion, Hemivertebrae... |
ORPHA:97360 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Mixed hearing impairment, Down-sloping shoulders, Tapered finger, Cupped ear, ... |
OMIM:615560 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Von Hippel-Lindau Disease |
|
Papilledema, Retinal detachment, Hypertensive retinopathy, Elevated urinary catecholamine level, ... |
ORPHA:892 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Occipital Horn Syndrome |
|
Joint laxity, Persistent open anterior fontanelle, Broad clavicles, Pectus excavatum, Kyphosis, C... |
OMIM:304150 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Congenital hip dislocation, Elbow contracture, Pectus excavatum, Cryptorchidism,... |
OMIM:617137 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Cryptorchidism, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Broad ribs |
ORPHA:2519 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cuta... |
OMIM:270400 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Limitation of joint mobility, ... |
ORPHA:93473 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Oeis Complex |
|
Duplicated collecting system, Absence of the sacrum, 11 pairs of ribs, Hydroureter, Renal agenesi... |
OMIM:258040 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Alopecia, Camptodactyly of finge... |
ORPHA:2092 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Wide cranial sutures, Recurrent fractures, Protrusio acetabul... |
OMIM:610682 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Fused cervical vertebra... |
OMIM:157800 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Prominent metopic ridge, Camptodactyly of finger, Pectus excavatum, Kyphosis, Cryptorchidism, Abn... |
ORPHA:2215 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia, Heari... |
OMIM:614922 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Cryptorchidism, Protruding ear, Abnorm... |
ORPHA:2115 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Optic disc pallor, Toe syndactyly, Hypospadias, Arachnodactyly, Unilateral renal a... |
ORPHA:464306 |
Chops Syndrome |
|
Tracheomalacia, Cervical C2/C3 vertebral fusion, Cryptorchidism |
OMIM:616368 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, White eyelashes, Aganglionic megacolon, White eyebrow, Short... |
OMIM:609136 |
Lumbar Syndrome |
|
Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Bifid uterus, Cryptorchidism, Hy... |
ORPHA:83628 |
Eisenmenger Syndrome |
|
Renal insufficiency, Clubbing, Hypochromic microcytic anemia, Pedal edema, Iron deficiency anemia... |
ORPHA:97214 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Thickened helices, Highly arched eyebrow, ... |
ORPHA:261494 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Vertebral segmentation defect |
ORPHA:959 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Micrognathia, Missing ribs, Nephroblastomatosis, Horseshoe kidney, Narrow pelvi... |
OMIM:608022 |
Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Polydactyly, Postaxial hand polydactyly, Renal cyst |
OMIM:603194 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Posteriorly rotated ear... |
OMIM:257300 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Pancre... |
ORPHA:464329 |
Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Bowing of the long bones, A... |
ORPHA:564 |
Cranioectodermal Dysplasia 1 |
|
Protruding ear, Tubulointerstitial nephritis, Sparse hair, Rhizomelia, Short toe, Short ribs, Low... |
OMIM:218330 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Cupped ear, Overfolded helix, Microtia, Rectovaginal fistula, Vesicour... |
OMIM:617466 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Micrognathia, Precocious puberty, Hypercalciuria, Renal cyst, Upper limb undergrowth, Nephrocalci... |
ORPHA:369837 |
Pagod Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abnormality of the spleen, Optic atrophy,... |
ORPHA:991 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Recurrent urinary tract infections, Orthostatic hypotension, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Duane-Radial Ray Syndrome |
|
Fused cervical vertebrae, Shoulder dislocation, Spina bifida occulta, Scoliosis |
OMIM:607323 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Proximal placement of thumb, Renal cyst, Prominent fingertip... |
OMIM:229850 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Unilateral renal agenesis, Micrognathia, Absent thumb, Absent radius, Renal h... |
OMIM:614083 |
Charge Syndrome |
|
External genital hypoplasia, Micrognathia, Hand monodactyly, Micropenis, Hypoplasia of the ulna, ... |
OMIM:214800 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Sensorineural hearing impairment, Nephrolith... |
ORPHA:18 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Multicystic kidney dysplasia, Polydactyly, Postaxial hand polydactyly |
OMIM:607361 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality, Pes cavus, Urinary incontinence |
ORPHA:206448 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatic cysts, Asplenia, Femoral bowing, Talipes equinovarus, Cystic renal dysplasia, Enlarged ki... |
OMIM:615415 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Renal agenesis, Short femur, Mesoaxial hand poly... |
OMIM:277170 |
Aspergillosis |
|
Abnormality of the vertebral column, Abnormal rib morphology, Osteomyelitis |
ORPHA:1163 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Osteomalacia, Testicular neoplasm, Abnormal rib morphology, Bone pa... |
ORPHA:249 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Uterine leiomyoma, Renal cyst |
OMIM:617100 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Posteriorly rotated ears, Maternal diabetes, Cryptorchidism,... |
ORPHA:49 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Retinal detachment, Micrognathia... |
ORPHA:1556 |
Joubert Syndrome 21 |
|
Splenomegaly, Sensorineural hearing impairment, Optic atrophy, Megalopapilla, Renal cyst, Short r... |
OMIM:615636 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Renal cyst, Tibial bowing, Micropenis, Myeloid leukemia, Streak ovary, Hypospadias,... |
ORPHA:798 |
Hydatidiform Mole |
|
Enlarged uterus, Anemia |
ORPHA:99927 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Conductive hearing impairment, Clinod... |
ORPHA:1606 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Proteinuria, Hypergonadotropic hypogonadism, Macrotia, Renal cyst, Nephrotic syndrome, Proximal t... |
OMIM:212065 |
Monosomy 9Q22.3 |
|
Accelerated skeletal maturation, Short neck, Kyphosis, Pectus excavatum, Abnormal rib morphology,... |
ORPHA:77301 |
Apert Syndrome |
|
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion |
ORPHA:87 |
Mend Syndrome |
|
Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Micrognathia, Long fingers, C... |
ORPHA:401973 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Talipes calcaneovalgus, Low-set, ... |
ORPHA:818 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Proximal tubulopathy, Renal cyst, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Branchio-Oculo-Facial Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Renal agenesis, Abnormal pinna m... |
ORPHA:1297 |
Orofaciodigital Syndrome Type 1 |
|
Brittle hair, Micrognathia, Coarse hair, Sparse hair, Clinodactyly of the 5th finger, Finger synd... |
ORPHA:2750 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t... |
ORPHA:666 |
Orofaciodigital Syndrome Type 4 |
|
Micromelia, Micrognathia, Conductive hearing impairment, Aplasia/Hypoplasia of the tibia, Genu va... |
ORPHA:2753 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Unilateral renal agenesis, Abnormal ... |
ORPHA:457284 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Long clavicles, Cryptorchidism, Contracture of the distal interphalangeal joint of the fingers, C... |
ORPHA:83617 |
Transketolase Deficiency |
|
Type I diabetes mellitus, Increased level of ribose in urine, Renal cyst, Hearing impairment |
ORPHA:488618 |
Joubert Syndrome With Hepatic Defect |
|
Renal insufficiency, Multicystic kidney dysplasia, Highly arched eyebrow, Splenomegaly, Postaxial... |
ORPHA:1454 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Micrognathia, Clinodactyly of the 5th finger, Hypoplastic female external ge... |
ORPHA:1507 |
Fryns Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacol... |
ORPHA:2059 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Congenital hip dislocation, Abnormal rib morphology, Missing ribs |
ORPHA:1647 |
Cystic Echinococcosis |
|
Eosinophilia, Abnormality of the testis size, Renal cyst, Ovarian cyst, Membranous nephropathy, S... |
ORPHA:400 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad eyebrow, Hypospadias, Optic nerve hypoplasia, Micrognathia, Sparse eyebrow, Cryptorchidism,... |
ORPHA:495875 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Female exter... |
ORPHA:90793 |
Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Short neck, Pectus excavatum, Cryptorchidism, Hip dislocation, Cervical C5/C6 vert... |
OMIM:613458 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior r... |
ORPHA:263508 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Retinal hamartoma, Precocious puberty, Renal c... |
OMIM:613254 |
Meckel Syndrome, Type 4 |
|
Bowing of the long bones, Postaxial hand polydactyly, Renal cyst |
OMIM:611134 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Renal insufficiency, Proteinuria, Diabetes mellitus, Splenomegaly,... |
ORPHA:699 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Clitoral hypertrophy, Neonatal hypoglycemia, Renal salt wasting, Female external genitalia in ind... |
ORPHA:168558 |
Acromelic Frontonasal Dysplasia |
|
Cryptorchidism, Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyly, Aplasia/Hypo... |
ORPHA:1827 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Clitoral hypertrophy, Neonatal hypoglycemia, Renal salt wasting, Female external genitalia in ind... |
ORPHA:289548 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Hypospadias, Posteriorly rotated ears, Abnormal pinna morphology, Micrognathia, Crypt... |
OMIM:616975 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Hypop... |
OMIM:241080 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Micrognathia, Proximal placement of thumb, Synophrys, Low anteri... |
ORPHA:199 |
Myhre Syndrome |
|
Joint stiffness, Cryptorchidism, Abnormal rib morphology, Platyspondyly, Hypogonadism |
ORPHA:2588 |
Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Oculocerebrorenal Syndrome Of Lowe |
|
Chorioretinal dysplasia, Micrognathia, Oligosacchariduria, Nephrocalcinosis, Protruding ear, Amin... |
ORPHA:534 |
Tuberous Sclerosis 1 |
|
Precocious puberty, Renal cyst, Achromatic retinal patches, Renal cell carcinoma, Preauricular ha... |
OMIM:191100 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Conduc... |
OMIM:304120 |
Attenuated Familial Adenomatous Polyposis |
|
Uterine leiomyoma, Multiple renal cysts, Congenital hypertrophy of retinal pigment epithelium |
ORPHA:220460 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Spina bifida occulta |
ORPHA:488434 |
D-Bifunctional Protein Deficiency |
|
Micrognathia, Decreased nerve conduction velocity, Splenomegaly, Split hand, Renal cyst, Hammerto... |
OMIM:261515 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Extramedullary hematopoiesis, Renal cyst |
ORPHA:79303 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Pes planus, Posteriorly rotated ears, EEG with burst suppression, Renal cyst, Talipes equinovarus... |
OMIM:617260 |
Genitopatellar Syndrome |
|
Congenital hip dislocation, Small scrotum, Hypoplastic ischia, Micrognathia, Knee flexion contrac... |
OMIM:606170 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kid... |
ORPHA:322 |
Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Paranasal sinus hypoplasia, Arachnodactyly, Facial palsy, Posterior... |
OMIM:300373 |
Hajdu-Cheney Syndrome |
|
Coarse metaphyseal trabecularization, Brachydactyly, Hypospadias, Bowing of the long bones, Heari... |
ORPHA:955 |
Proteus Syndrome |
|
Abnormal finger morphology, Renal cyst, Chorioretinal coloboma, Clinodactyly of the 5th finger, G... |
ORPHA:744 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Uterine leiomyoma, Renal cyst |
ORPHA:480536 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Stage 5 chronic kidney... |
OMIM:267010 |
Alveolar Echinococcosis |
|
Abnormal pelvis bone morphology, Eosinophilia, Pancreatic cysts, Renal cyst, Pedal edema, Anemia,... |
ORPHA:284 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Hypospadias, Hearing impairment, Micrognathia, Cryptorchidism, 2-3 ... |
ORPHA:1596 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Epiphyseal stippling, Renal cyst |
OMIM:614862 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Micromelia, Micrognathia, Preaxial hand polydactyly,... |
ORPHA:93271 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Jacobsen Syndrome |
|
Low-set, posteriorly rotated ears, Broad hallux phalanx, Multicystic kidney dysplasia, Finger syn... |
ORPHA:2308 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Clitoral hypertrophy, Premature pubarche, Hypogonadotropic hypogonadism, Abno... |
ORPHA:90794 |
Acrocephalopolydactylous Dysplasia |
|
Abnormal pinna morphology, Micromelia, Postaxial hand polydactyly, Polysplenia, Low-set ears, Cys... |
OMIM:200995 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Micrognathia, Sensorineural hearing impairment, Hand polydactyly, C... |
ORPHA:261197 |
Coffin-Siris Syndrome 1 |
|
Dry hair, Ectopic kidney, Prominent interphalangeal joints, Clinodactyly of the 5th finger, Promi... |
OMIM:135900 |
Cerebrocostomandibular Syndrome |
|
11 pairs of ribs, 10 pairs of ribs, Short humerus, Congenital hip dislocation, Calcaneal epiphyse... |
OMIM:117650 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Renal cyst, Narrow greater sciatic notch, Short palm, Posterior helix pit, Hypospadias, Cryptorch... |
OMIM:312870 |
Cranioectodermal Dysplasia 2 |
|
Syndactyly, Renal insufficiency, Rhizomelia, Sparse eyelashes, Micrognathia, Simple ear, Splenome... |
OMIM:613610 |
Limb-Mammary Syndrome |
|
Syndactyly, Alopecia, Toe syndactyly, Absent nipple, Sparse eyebrow, 3-4 finger cutaneous syndact... |
ORPHA:69085 |
Fraser Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys... |
ORPHA:2052 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Retinal hamartoma, Optic atrophy, Hematuria, Multiple ren... |
ORPHA:538 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Micrognathia, Synophrys, Conductive hearing impairment, Vesicoureteral reflux, Hyperglycemia, Low... |
ORPHA:444077 |
Branchiooculofacial Syndrome |
|
Proximal placement of thumb, Micrognathia, Renal cyst, Premature graying of hair, Conductive hear... |
OMIM:113620 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Hypoplasia of the ulna, Multiple small medullary renal cysts, Chori... |
OMIM:118450 |
Pontocerebellar Hypoplasia Type 7 |
|
Micrognathia, Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Micro... |
ORPHA:284339 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Otosclerosis, Hypoglycemia, Neonatal hypoglycemia, Splenomegaly, Cryptorchi... |
ORPHA:116 |
Monosomy 9P |
|
Short neck, Cryptorchidism, Limitation of joint mobility, Abnormal rib morphology, Abnormality of... |
ORPHA:261112 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Testicular neoplasm, Nephrolithiasis, Renal cyst, Hypercalc... |
ORPHA:99880 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Streak ovary, Hypoplasia of the fallopian tube, Insulin-resistant diabetes mellitus, Hy... |
ORPHA:3464 |
Peters Plus Syndrome |
|
Ureteral duplication, Micromelia, Micrognathia, Clitoral hypoplasia, Conductive hearing impairmen... |
ORPHA:709 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Joint stiffness, Avascular necrosis of the capital femoral epiphysi... |
ORPHA:581 |
Histiocytoid Cardiomyopathy |
|
Optic atrophy, Hypoglycemia, Renal cyst, Polycystic ovaries |
ORPHA:137675 |
Heterotaxy, Visceral, 1, X-Linked |
|
Absence of the sacrum, Congenital hip dislocation, Block vertebrae |
OMIM:306955 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
11 pairs of ribs, Decreased testicular size, Multicystic kidney dysplasia, Optic nerve dysplasia,... |
OMIM:615287 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Testicular neoplasm, Nephrolithiasis, Renal cyst, Hypercalc... |
ORPHA:143 |
Kinsship Syndrome |
|
Pes planus, Micrognathia, Coxa valga, Synophrys, Hip dislocation, Renal hypoplasia, Horseshoe kid... |
OMIM:619297 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Femoral bowing, Conductive hearing impairment, ... |
OMIM:201750 |
C Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Toe syndactyly, Talipes, Microme... |
ORPHA:1308 |
Norrie Disease |
|
Retinal detachment, Diabetes mellitus, Abnormal chorioretinal morphology, Remnants of the hyaloid... |
ORPHA:649 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Supernumerary nipple, Bifid uterus, Abnormal reproductive system morphology, Aplasia/... |
ORPHA:1521 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Flexion contracture, Scoliosis |
ORPHA:500545 |
Mosaic Variegated Aneuploidy Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Ambiguous genitalia, Vaginal neo... |
ORPHA:1052 |
Tetrasomy 9P |
|
Renal dysplasia, Aplasia/Hypoplasia of the clavicles, Recurrent urinary tract infections, Hypopla... |
ORPHA:3310 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Low-set ears, Renal insufficiency, Overlapping toe, Renal cyst |
OMIM:617478 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Aplastic clavicle, Elbow dislocation, Cryptorchidism, ... |
ORPHA:2554 |
Elsahy-Waters Syndrome |
|
Bilateral cryptorchidism, Cervical C2/C3 vertebral fusion, Pectus excavatum |
OMIM:211380 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Renal agenesis, Rocker bottom foot, Micromelia, Micrognathia, ... |
OMIM:256520 |
Williams Syndrome |
|
Hypoplasia of penis, Micrognathia, Abnormal tubulointerstitial morphology, Protruding ear, Nephro... |
ORPHA:904 |
Vater/Vacterl Association |
|
Abnormal rib morphology, Radioulnar synostosis, Abnormal sternum morphology, Scoliosis, Abnormal ... |
OMIM:192350 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Joint contracture, Scoliosis |
OMIM:617393 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Urinary incontinence, Uplifted earlobe, Asplenia, Calcaneovalgus deformity, Vesico... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Urinary incontinence, Uplifted earlobe, Asplenia, Calcaneovalgus deformity, Vesico... |
ORPHA:2152 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Edema of the dorsum of feet, Small scrotum, Micrognathia, Renal cyst,... |
OMIM:601803 |
Dextrocardia |
|
Congenital hip dislocation, Abnormal rib morphology |
ORPHA:1666 |
Okamoto Syndrome |
|
Urinary incontinence, Talipes, Bifid uterus, Splenomegaly, Extension of hair growth on temples to... |
ORPHA:2729 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
Craniofacial Microsomia 1 |
|
Block vertebrae, Hemivertebrae, Genu valgum, Cervical ribs, Scoliosis, Vertebral hypoplasia |
OMIM:164210 |
Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Abnormal calcifica... |
ORPHA:51608 |
Trisomy 18 |
|
Cryptorchidism, Delayed skeletal maturation, Abnormal rib morphology, Camptodactyly of finger |
ORPHA:3380 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Urinary incontinence, Uplifted earlobe, Asplenia, Calcaneovalgus deformity, Vesico... |
ORPHA:261552 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, ... |
OMIM:130050 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Micrognathia, Conductive hearing impairment, Atresia of the externa... |
ORPHA:1393 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Bone pain, Abnormal rib morphology, Reduced bone mineral d... |
ORPHA:667 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Absent eyebrow, Multicystic kidney dysplasia, Alopecia, Renal agenesis, Hypospadias, Unilateral r... |
OMIM:308205 |
Cardiac-Urogenital Syndrome |
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Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, 2-3 toe syndactyly, E... |
OMIM:618280 |
Charge Syndrome |
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Hypogonadotropic hypogonadism, Cryptorchidism, Abnormal rib morphology, Hemivertebrae, Abnormalit... |
ORPHA:138 |
Hereditary Acrokeratotic Poikiloderma |
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Joint hyperflexibility, Abnormal rib morphology, Camptodactyly of finger |
ORPHA:2907 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Bifid uterus |
ORPHA:2736 |
Kindler Epidermolysis Bullosa |
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Flexion contracture, Abnormal rib morphology, Camptodactyly of finger |
ORPHA:2908 |
Pmm2-Cdg |
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Pes planus, Proteinuria, Abnormal pinna morphology, Hypogonadotropic hypogonadism, Long fingers, ... |
ORPHA:79318 |
Loeys-Dietz Syndrome |
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Pes planus, Arachnodactyly, Camptodactyly of finger, Micrognathia, Uterine rupture |
ORPHA:60030 |
Vascular Ehlers-Danlos Syndrome |
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Alopecia, Congenital hip dislocation, Hypospadias, Abnormality of hair texture, Abnormal eyelash ... |
ORPHA:286 |