Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Severe short stature, Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Ky... |
OMIM:277300 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Finger syndactyly, Delayed skeletal maturation, Thick eyebrow, Radioulnar synos... |
ORPHA:3268 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Spondylocostal Dysostosis 5 |
|
Severe short stature, Pectus carinatum, Butterfly vertebrae, Supernumerary ribs, Missing ribs, Sh... |
OMIM:122600 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Death in infancy, Vertebral segmentation defect, Short long bone, Short thorax, Vertebral fusion,... |
OMIM:618845 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Short stature, Spinal instability, Vertebral fusion |
OMIM:251250 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Abnorm... |
ORPHA:66637 |
Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... |
ORPHA:2345 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Broad ischia, Irregular capital femoral epiphysis, Flat acetabular ... |
OMIM:609052 |
Metatropic Dysplasia |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Dispropo... |
OMIM:156530 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, H... |
OMIM:113000 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Bell-shaped thorax, Vert... |
OMIM:613686 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Chorioretinal coloboma, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoraci... |
OMIM:613702 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Platyspondyly, Narrow chest, Rhizomelia, Abnormal clavicle morphology, Abnormal epiphysis morphol... |
ORPHA:93267 |
Metatropic Dysplasia |
|
Severe short stature, Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebra... |
ORPHA:2635 |
Verheij Syndrome |
|
Short 5th finger, Branchial cyst, Clinodactyly, Intrauterine growth retardation, Joint hypermobil... |
OMIM:615583 |
Kniest Dysplasia |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma... |
ORPHA:485 |
Kbg Syndrome |
|
Delayed skeletal maturation, Cervical ribs, Persistent open anterior fontanelle, Finger clinodact... |
ORPHA:2332 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia |
OMIM:205950 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rh... |
ORPHA:1354 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... |
ORPHA:93315 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Ventriculomegaly, Intrauterine growth retardation, Agenesis of corpus callosum, Microphthalmia, R... |
OMIM:616570 |
Fibrodysplasia Ossificans Progressiva |
|
Abnormal vertebral morphology, Synostosis of joints, Alopecia, Limitation of joint mobility, Ecto... |
ORPHA:337 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Thin ribs, Platyspondyly, Rhizomelia, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hy... |
OMIM:300863 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... |
ORPHA:2790 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Intrauterine growth retardation, Periventricular heterotopia, Thoracic scoliosis, Lumbar scoliosi... |
OMIM:616171 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Microphthalmia, Syndromic 3 |
|
Optic nerve hypoplasia, Optic nerve aplasia, Postnatal growth retardation, Butterfly vertebrae, A... |
OMIM:206900 |
2Q24 Microdeletion Syndrome |
|
Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Abnormality iris morphology, Camptoda... |
ORPHA:1617 |
Warburg Micro Syndrome 1 |
|
Enlarged sylvian cistern, Facial hypertrichosis, Hypertrichosis, Overlapping toe, Kyphoscoliosis,... |
OMIM:600118 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... |
ORPHA:2064 |
Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... |
OMIM:261000 |
Ring Chromosome 21 Syndrome |
|
Small hand, Clinodactyly, Thoracic hemivertebrae, Abnormal thorax morphology, Multiple cafe-au-la... |
ORPHA:1445 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:300946 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology, Abnormal clavicle morphology, Abnormal hip bone morphology, Sho... |
ORPHA:2522 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Carpal synostosis, Cutaneous finger syndactyly, Hip contracture, Barrel-shaped chest, Short neck,... |
OMIM:178110 |
Kyphomelic Dysplasia |
|
Narrow chest, Disproportionate short stature, Limitation of joint mobility, Abnormal form of the ... |
ORPHA:1801 |
Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Synostosis of carpal bones, Limitation of joint mobility, Elbow d... |
ORPHA:90650 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Aicardi Syndrome |
|
Block vertebrae, Small hand, Ventriculomegaly, Sparse lateral eyebrow, Chorioretinal coloboma, Op... |
ORPHA:50 |
Baraitser-Winter Syndrome 2 |
|
Highly arched eyebrow, Ventriculomegaly, Pachygyria, Agenesis of corpus callosum, Short neck, Col... |
OMIM:614583 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Ventriculomegaly, Elbow contracture, Hyperlordosis, Achilles tendon contracture, Pachygyria, Vert... |
OMIM:606612 |
Multiple Pterygium Syndrome, X-Linked |
|
Thin ribs, Joint dislocation, Short finger, Intrauterine growth retardation, Increased susceptibi... |
OMIM:312150 |
Cofs Syndrome |
|
Camptodactyly of finger, Intrauterine growth retardation, Joint stiffness, Abnormality of retinal... |
ORPHA:1466 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Thoracic hemivertebrae, Brachydactyly, Short stature, Abnormal sacrum morphology, Scoliosis, Shor... |
ORPHA:1436 |
Basal Cell Nevus Syndrome 1 |
|
Short 4th metacarpal, Iris coloboma, Short distal phalanx of the thumb, Vertebral wedging, Abnorm... |
OMIM:109400 |
Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Brachydactyly, Proximal symphal... |
OMIM:610017 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Short neck, Brachydactyly, Clinodactyly of the 5th finger... |
OMIM:244600 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Pectus carinatum, Lumbar hyperlordosis, Butterfly vertebrae, 2-3 toe syndactyly, Vertebral fusion... |
ORPHA:313892 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Abnormal vertebral morphology, Iris coloboma, 11 pairs of ribs, Anophthalmia, Agenesis of corpus ... |
ORPHA:77298 |
Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplastic ilia, Optic... |
OMIM:169550 |
Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
Multiple Pterygium Syndrome, Lethal Type |
|
Thin ribs, Joint dislocation, Short finger, Intrauterine growth retardation, Increased susceptibi... |
OMIM:253290 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... |
OMIM:609813 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs, Platyspondyly, Rhizomelia, Metaphyseal cupping of metacarpals, Abnormality of the calc... |
ORPHA:163966 |
Bresek Syndrome |
|
Iris coloboma, Alopecia, Growth delay, Intrauterine growth retardation, Neonatal death, Hydroceph... |
ORPHA:85284 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Low posterior hairline, Short neck, Sprengel anomaly, Abnormal l... |
OMIM:118100 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Small hand, High anterior hairline, Finger syndactyly, Camptodactyly of finger, ... |
ORPHA:915 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Short neck, Absent phalangeal crease, Fused thoracic vertebrae, Antecubital pterygium, Tarsal syn... |
OMIM:618469 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Low posterior hairline, Short neck, Sprengel anomaly, Scoliosis,... |
OMIM:214300 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Limitation of joint mobility, Dispro... |
ORPHA:93351 |
Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Bell-shaped thorax, Aplasia/hypoplasia of the femur, Lo... |
ORPHA:2839 |
Methylcobalamin Deficiency Type Cble |
|
Ventriculomegaly, Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hydrocephal... |
ORPHA:2169 |
Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Hypoplastic iliac wing, Disproportionate short-trunk short stature, Ab... |
ORPHA:168549 |
Aicardi Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation, Postnatal growth retardation, Microphthalm... |
OMIM:304050 |
Gombo Syndrome |
|
Radial deviation of finger, Clinodactyly, Delayed puberty, Brachydactyly, Microphthalmia |
OMIM:233270 |
Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Elbow dislocation, Clinodactyly of the 5th finger, Postaxi... |
ORPHA:2916 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus, Abnormal rib morpholo... |
ORPHA:2435 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Hypoplastic thumbnail, Short distal phalanx of finger, Short distal phalanx of the thumb, Broad t... |
ORPHA:370010 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume |
OMIM:620044 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae, Agenesis of corpus callosum |
ORPHA:238722 |
Diastrophic Dysplasia |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Bowing of the long bones, Abnormal metacarpal ... |
ORPHA:628 |
Gorlin Syndrome |
|
Abnormal vertebral morphology, Iris coloboma, Vertebral wedging, Abnormal rib morphology, Melanoc... |
ORPHA:377 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ventriculomegaly, Intrauterine growth retardation, Microphthalmia, Abnormality of the cervical sp... |
ORPHA:48431 |
Juberg-Hayward Syndrome |
|
Severe short stature, Abnormal vertebral morphology, Highly arched eyebrow, Toe syndactyly, Short... |
ORPHA:2319 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... |
ORPHA:3202 |
Mesomelic Dysplasia, Kantaputra Type |
|
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Abnormality of t... |
ORPHA:1836 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Severe short stature, Abnormal sacrum morphology, Abnormal rib morphology, Intrauterine growth re... |
ORPHA:1797 |
Microphthalmia, Syndromic 13 |
|
Chorioretinal coloboma, Kyphoscoliosis, Microphthalmia, Short stature, Iris coloboma |
OMIM:300915 |
Christian Syndrome |
|
Thoracic hemivertebrae, Prominent metopic ridge, Short stature, Scoliosis, Short middle phalanx o... |
OMIM:309620 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Ectopic ossi... |
OMIM:135100 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Type II lissencephaly, Death in childhood, Low anterior hairline, Agenesis of c... |
OMIM:613153 |
Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... |
OMIM:214450 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Absent thumb, Short 1st metacarpal, Short thumb, Intrauterine growth reta... |
OMIM:609053 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... |
ORPHA:174 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Platyspondyly, Disproportionate short stature, Hypoplastic iliac wing, Lumbar hyperlordosis, Enla... |
OMIM:609616 |
16Q24.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Ventriculomegaly, Increased mean corpuscular volume, Colpocephaly, Abnorma... |
ORPHA:261250 |
Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Pectus carinatum, Disproportionate short-limb short stature, Recurrent fractures, ... |
OMIM:259440 |
Acro-Renal-Ocular Syndrome |
|
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Chorioretinal coloboma, Rad... |
ORPHA:959 |
Pierpont Syndrome |
|
High anterior hairline, Abnormal cortical gyration, Ventriculomegaly, Short toe, Prominent finger... |
ORPHA:487825 |
Cat-Eye Syndrome |
|
Chorioretinal coloboma, Intrauterine growth retardation, Microphthalmia, Abnormal rib morphology,... |
ORPHA:195 |
Garg-Mishra Progeroid Syndrome |
|
Thin ribs, Platyspondyly, Narrow chest, Slender long bone, Persistent open anterior fontanelle, S... |
OMIM:620601 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Platyspondyly, Anisospondyly, Narrow chest, Slender finger, Delayed patellar ossification, Wide p... |
ORPHA:163649 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Ectopia pupillae, Bowing of the long bones, Microphthalmia, Short metacarpal, Ov... |
ORPHA:85167 |
Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Alopecia, Abnormal thorax morphology, Anophthalmia, Agenesis of corpu... |
OMIM:164180 |
Koolen-De Vries Syndrome |
|
Iris hypopigmentation, Slender finger, Ventriculomegaly, Kyphosis, Prominent fingertip pads, Fair... |
OMIM:610443 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Type II lissencephaly, Agenesis of corpus callosum, Coloboma, Hydrocephal... |
OMIM:615249 |
Spondylocarpotarsal Synostosis Syndrome |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S... |
OMIM:272460 |
Atelosteogenesis, Type I |
|
Elbow dislocation, Radial bowing, Fibular aplasia, Bell-shaped thorax, Encephalocele, Neonatal de... |
OMIM:108720 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Joint contracture of the hand, Ventriculomegaly, Elbow flexion contracture, Death in childhood, K... |
OMIM:214150 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Supernumerary nipple, Postnatal growth retardation, Overlapping toe, Low posterior hairline, Shor... |
OMIM:213980 |
Stuve-Wiedemann Syndrome 2 |
|
Thoracic hypoplasia, Intrauterine growth retardation, Neonatal death, Bowing of the long bones, D... |
OMIM:619751 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... |
OMIM:271650 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... |
OMIM:177170 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Death in childhood, Dislocated radial head, Hip dislocation, Bilateral microphthalmos, Polymicrog... |
OMIM:610758 |
Curry-Jones Syndrome |
|
Ventriculomegaly, Toe syndactyly, Broad thumb, Finger syndactyly, Optic disc coloboma, Preaxial h... |
ORPHA:1553 |
Spondylo-Ocular Syndrome |
|
Platyspondyly, Iris hypopigmentation, Abnormal eyebrow morphology, Joint hypermobility, Low poste... |
ORPHA:85194 |
Baraitser-Winter Syndrome 1 |
|
Highly arched eyebrow, Ventriculomegaly, Chorioretinal coloboma, Pachygyria, Postnatal growth ret... |
OMIM:243310 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Short neck, Disproportionate short-trunk short stature... |
OMIM:608681 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Melanin pigment aggregation in ... |
OMIM:607624 |
Lateral Meningocele Syndrome |
|
Coarse hair, Umbilical hernia, Sclerosis of skull base, Biconcave vertebral bodies, Joint hypermo... |
OMIM:130720 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Platyspondyly, Albinism, Hypopigmentation of the skin, Short stature, Osteoporosis, Hypopigmentat... |
ORPHA:2786 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Agenesis of corpus callosum, Short neck, Ce... |
ORPHA:508498 |
Larsen Syndrome |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Beaking of vertebral bodies, Short metacarpal,... |
OMIM:150250 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Severe short stature, Platyspondyly, Limitation of joint mobility, Coxa vara, Flared, irregular r... |
ORPHA:168555 |
Koolen-De Vries Syndrome |
|
Ventriculomegaly, Kyphosis, Vertebral segmentation defect, Joint hypermobility, Arachnodactyly, V... |
ORPHA:96169 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos, Hirsutism, Coloboma, Hemivertebrae, Short st... |
OMIM:619318 |
Frontometaphyseal Dysplasia 1 |
|
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... |
OMIM:305620 |
Ritscher-Schinzel Syndrome 3 |
|
Highly arched eyebrow, Short 1st metacarpal, Chorioretinal coloboma, Postnatal growth retardation... |
OMIM:619135 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... |
OMIM:617021 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Alopecia, Aplastic anemia, Increased mean corpuscular volume, Premature graying of hair, Lymphope... |
OMIM:127550 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Coloboma, Growth delay, Agenesis of corpus callosum |
OMIM:274270 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Squared iliac bones, Umbilical hernia, Knee dislocation, Thin eyebrow, Thoracic scoli... |
OMIM:618000 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Squared iliac bones, Disproportionate short-limb short stature, Thoracic hypoplasi... |
OMIM:608728 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormality of the nail, Sparse eyebrow, Hypoplastic cervical vertebrae, Coarse hair, Epiphyseal ... |
ORPHA:35173 |
Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Disproportiona... |
ORPHA:239 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Iris coloboma, Alopecia, Clinodactyly, Camptodactyly, Osteolysis involving bones of the upper lim... |
ORPHA:88630 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Platyspondyly, Narrow chest, Hypoplastic ilia, Ventriculomegaly... |
OMIM:187601 |
Shashi-Pena Syndrome |
|
Highly arched eyebrow, Ventriculomegaly, Hypertrichosis, Intrauterine growth retardation, Long ey... |
OMIM:617190 |
Craniotelencephalic Dysplasia |
|
Agenesis of corpus callosum, Hydrocephalus, Frontal encephalocele, Microphthalmia, Craniosynostos... |
ORPHA:1528 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Thin ribs, Platyspondyly, Metaphyseal irregularity, Multiple joint dislocation, Short femoral nec... |
OMIM:618395 |
Wolf-Hirschhorn Syndrome |
|
Ectopia pupillae, Agenesis of corpus callosum, Low posterior hairline, Radioulnar synostosis, Sho... |
OMIM:194190 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Severe short stature, Pectus carinatum, Platyspondyly, Hypoplasia of the odontoid process, Dispro... |
OMIM:184250 |
Kahrizi Syndrome |
|
Elbow contracture, Knee flexion contracture, Short stature, Iris coloboma, Thoracic kyphosis |
OMIM:612713 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Low posterior hairline, Short neck, Thorac... |
OMIM:616549 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microphthalmi... |
OMIM:614833 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Ectopia pupillae, Postnatal growth retardation, Microphthalmia, Hypoplastic inferior ilia, Short ... |
OMIM:608940 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Ventriculomegaly, Preaxi... |
ORPHA:1988 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Hypomelanosis Of Ito |
|
Alopecia, Clinodactyly, Radial deviation of finger, Macular hypopigmented whorls, streaks, and pa... |
OMIM:300337 |
Myhre Syndrome |
|
Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Enlarged vertebral pedicles, ... |
OMIM:139210 |
Cartilage-Hair Hypoplasia |
|
Absent pubertal growth spurt, Hypoplasia of the odontoid process, Lymphopenia, Sparse eyelashes, ... |
OMIM:250250 |
Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Cervical ribs, Absent radius, Tibial torsion, Fibular aplasia, Ap... |
ORPHA:3320 |
Kbg Syndrome |
|
Radial deviation of finger, Delayed skeletal maturation, Cervical ribs, Ulnar deviation of the 2n... |
OMIM:148050 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Postnatal growth retardation, Stippled calcification in carpal bones, Sparse eyelashes, Short nec... |
OMIM:302960 |
Microphthalmia/Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos |
OMIM:613703 |
Microphthalmia/Coloboma 4 |
|
Coloboma, Microphthalmia |
OMIM:251505 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... |
ORPHA:98870 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Radial bowing, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovoid vertebral b... |
OMIM:151210 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Clinodactyly, Coloboma, Brachydactyly, Microphthalmia, Short stature, Iris coloboma, Syndactyly |
OMIM:610023 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Limitation of joint mobility, Abnormal form of the vertebral bodies, Slender long bone, Abnormal ... |
ORPHA:1486 |
Joint Laxity, Short Stature, And Myopia |
|
Pectus carinatum, Multiple joint dislocation, Cervical kyphosis, Chorioretinal coloboma, Umbilica... |
OMIM:617662 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Rib fusion, Missing ribs, Short ... |
OMIM:271520 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Ventriculomegaly, Occipital encephalocele, Abnormality iris morphology, Polymicrogyria, Type II l... |
ORPHA:370959 |
2Q31.1 Microdeletion Syndrome |
|
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Abnormal hair morphology, Short nec... |
ORPHA:251014 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Bowing of the long bones, Short neck, Short greater sciatic notch, Small abnormal... |
OMIM:187600 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Genu recurvatum, Broad thumb, Limitation of joint mobility, Interphalangeal joint contracture of ... |
OMIM:151200 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the pelvis, Agenesis of corpus callosum, Missing ribs, Hydrocephalus... |
ORPHA:3301 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Sparse hair, Camptodactyly of finger, Intrauterine growth retardation, Death in childhood, Kyphos... |
OMIM:610756 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... |
OMIM:269250 |
Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Joint contracture of the hand, Anterior basal encephalocele, Clinodacty... |
OMIM:136760 |
Mosaic Trisomy 20 |
|
Narrow chest, Clinodactyly, Spinal canal stenosis, Intrauterine growth retardation, Vertebral seg... |
ORPHA:1724 |
Linear Verrucous Nevus Syndrome |
|
Genu recurvatum, Ventriculomegaly, Toe syndactyly, Reduced bone mineral density, Aplasia/Hypoplas... |
ORPHA:2611 |
Kapur-Toriello Syndrome |
|
Iris coloboma, Joint contracture of the hand, Short thumb, Camptodactyly of finger, Retinal colob... |
OMIM:244300 |
Duane Retraction Syndrome |
|
Hypopigmented skin patches, Chorioretinal coloboma, Low posterior hairline, Aplasia/Hypoplasia of... |
ORPHA:233 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Periostitis, Broad ribs, Osteomyelitis, Splenomegaly, Joint swelling, Flaring of rib ... |
OMIM:612852 |
Cousin Syndrome |
|
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Dislocation of the f... |
OMIM:260660 |
Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Toenail dysplasia, Short toe, Umbilical hernia, Apla... |
OMIM:615297 |
Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Coloboma, Delayed puberty, Hydrocephalus, Microphthalmia, Short stature |
ORPHA:141333 |
Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Encephalocele,... |
ORPHA:90652 |
Trisomy 13 |
|
Iris coloboma, Narrow chest, Abnormal pelvic girdle bone morphology, Ectrodactyly, Intrauterine g... |
ORPHA:3378 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Sparse body hair, Sh... |
ORPHA:2234 |
Chondrodysplasia, Blomstrand Type |
|
Abnormal vertebral morphology, Narrow chest, Flared metaphysis, Advanced tarsal ossification, Sho... |
OMIM:215045 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Low posterior hairline, Short neck, Abnormal rib morphology, Short... |
ORPHA:2578 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... |
OMIM:184400 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Pectus carinatum, Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiphysis morphology, A... |
ORPHA:3082 |
3M Syndrome |
|
Thin ribs, Short neck, Hypoplastic ischia, Abnormality of the elbow, Delayed skeletal maturation,... |
ORPHA:2616 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia |
ORPHA:90044 |
White Forelock With Malformations |
|
Finger syndactyly, Delayed skeletal maturation, Clinodactyly of the 5th finger, White forelock, J... |
ORPHA:2475 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Intercrural pterygium, Dysplastic patella, Patellar aplasia, Arachnodactyly, Short neck, Thoracol... |
OMIM:265000 |
Wildervanck Syndrome |
|
Low posterior hairline, Meningocele, Fused cervical vertebrae, Short neck |
ORPHA:3456 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ventriculomegaly, Occipital encephalocele, Type II lissencephaly, Coloboma, Hydrocephalus, Microp... |
ORPHA:324416 |
Lamb-Shaffer Syndrome |
|
Thoracic kyphosis, Mild postnatal growth retardation, Hip dysplasia, Scoliosis, Fused cervical ve... |
ORPHA:530983 |
Pierpont Syndrome |
|
High anterior hairline, Prominent fingertip pads, Short toe, Short finger, Short neck, Microphtha... |
OMIM:602342 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Focal polymicrogyria, Dilated fourth ventricle, Microphthalmia, Partial agenesis of the corpus ca... |
OMIM:615771 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Ventriculomegaly, Cone-shaped epiphysis, Growth delay, Short toe, Broad hallux, Short finger, Per... |
OMIM:618659 |
Microcephaly-Micromelia Syndrome |
|
Narrow chest, Absent thumb, Short tibia, Oligodactyly, Intrauterine growth retardation, Humerorad... |
OMIM:251230 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Small nail, Increased mean corpuscular volume, Persistence of hemoglobin F, Panc... |
OMIM:617052 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Scoliosis, Kyphosis |
OMIM:607155 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... |
OMIM:268310 |
Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Postnatal... |
OMIM:223800 |
Mucopolysaccharidosis, Type Iva |
|
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Disproportio... |
OMIM:253000 |
Holt-Oram Syndrome |
|
Broad thumb, Abnormal clavicle morphology, Finger syndactyly, Aplasia/Hypoplasia of the radius, A... |
ORPHA:392 |
Cole-Carpenter Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies, Intrauterine growth retardation, Abnormal metaph... |
ORPHA:2050 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia, Premature graying of hair |
OMIM:620367 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Death in infancy, Sh... |
OMIM:617405 |
Cohen Syndrome |
|
Finger syndactyly, Genu valgum, Arachnodactyly, Neutropenia, Microphthalmia, Iris coloboma, Long ... |
ORPHA:193 |
Waardenburg Syndrome, Type 1 |
|
Supernumerary vertebrae, Premature graying of hair, Myelomeningocele, Partial albinism, Thick eye... |
OMIM:193500 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia, Abnormal thumb morphology, Anemia, Multiple cafe-au-lait spots, Neutropenia, Thro... |
OMIM:614082 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Delayed ske... |
OMIM:602111 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly, Coloboma, Microphthalmia |
OMIM:613094 |
Fibrochondrogenesis 1 |
|
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, Sho... |
OMIM:228520 |
Mucopolysaccharidosis Type 4 |
|
Platyspondyly, Pectus carinatum, Joint dislocation, Short thorax, Delayed skeletal maturation, Sp... |
ORPHA:582 |
Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Thin ribs, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Flattened epiphy... |
OMIM:300232 |
Thoracolaryngopelvic Dysplasia |
|
Hypoplastic iliac wing, Bell-shaped thorax, Hypoplastic pelvis, Horizontal ribs, Short ribs, Meta... |
OMIM:187760 |
Caudal Regression Syndrome |
|
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Joint stiffness, Missin... |
ORPHA:3027 |
Microphthalmia/Coloboma 10 |
|
Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma |
OMIM:616428 |
Coloboma Of Macula With Type B Brachydactyly |
|
Broad distal phalanx of the thumb, Type B brachydactyly, Absent distal phalanges, Bifid distal ph... |
OMIM:120400 |
Melnick-Needles Syndrome |
|
Anisospondyly, Narrow chest, Craniofacial hyperostosis, Short distal phalanx of finger, Short tho... |
ORPHA:2484 |
Temtamy Syndrome |
|
Short toe, Chorioretinal coloboma, Joint hypermobility, Brachydactyly, Microphthalmia, Clinodacty... |
ORPHA:1777 |
Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Craniotelencephalic Dysplasia |
|
Agenesis of corpus callosum, Frontal encephalocele, Microphthalmia, Craniosynostosis, Lissencepha... |
OMIM:218670 |
Ritscher-Schinzel Syndrome 1 |
|
Intrauterine growth retardation, Missing ribs, Low posterior hairline, Coloboma, Hydrocephalus, H... |
OMIM:220210 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal form of the vertebral bodies, Abnormal rib morphology, Umbilical hernia, Camptodactyly o... |
ORPHA:2311 |
Hidrotic Ectodermal Dysplasia |
|
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... |
ORPHA:189 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal form of the vertebral bodies, Sandal gap, Sprengel anomaly, Brachydactyly, Hemivertebrae... |
ORPHA:2180 |
Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
Fibrochondrogenesis 2 |
|
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Sh... |
OMIM:614524 |
Cantú Syndrome |
|
Finger syndactyly, Low posterior hairline, Generalized hirsutism, Short neck, Short hallux, Paten... |
ORPHA:1517 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Scoliosis, Neutropenia |
OMIM:612562 |
Gracile Bone Dysplasia |
|
Thin ribs, Slender long bone, Flared metaphysis, Aniridia, Death in infancy, Decreased skull ossi... |
OMIM:602361 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Thin ribs, Bowing of limbs due to multiple fractures, Joint hypermobility, Short s... |
OMIM:615220 |
Martsolf Syndrome 1 |
|
Abnormal toenail morphology, Low posterior hairline, Broad fingertip, Microphthalmia, Finger join... |
OMIM:212720 |
Mosaic Trisomy 14 |
|
Narrow chest, Camptodactyly of finger, Short neck, Abnormal rib morphology, Aplasia/Hypoplasia af... |
ORPHA:1703 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Intrauterine growth retardation, Joint hypermobility, Cervical C2/C3 vertebral fusion, Camptodact... |
OMIM:617333 |
Achondrogenesis, Type Ii |
|
Abnormally large globe, Disproportionate short-limb short stature, Broad long bones, Short tubula... |
OMIM:200610 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Sparse lateral eyebrow, Knee flexion contracture, Down-sloping shoulders, Cubitus valgus, Microph... |
OMIM:619694 |
Congenital Hydrocephalus |
|
Abnormal cortical gyration, Ventriculomegaly, Macular hypoplasia, Colpocephaly, Hydrocephalus, Ir... |
ORPHA:2185 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:185000 |
Sandestig-Stefanova Syndrome |
|
Highly arched eyebrow, Ventriculomegaly, Clinodactyly, Sparse medial eyebrow, Intrauterine growth... |
OMIM:618804 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia |
OMIM:206100 |
Curry-Jones Syndrome |
|
Iris coloboma, High anterior hairline, Broad thumb, Ventriculomegaly, Unicoronal synostosis, Prea... |
OMIM:601707 |
Marden-Walker Syndrome |
|
Joint contracture of the hand, Congenital contracture, Abnormal sternum morphology, Postnatal gro... |
OMIM:248700 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean corpuscul... |
OMIM:615234 |
Acrocapitofemoral Dysplasia |
|
Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Intrauterine growth retardation, Splenomegaly, Tibial bowing, Lower limb undergrow... |
ORPHA:3035 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventriculomegaly, Polymicrogyria, Polydactyly, Joint hypermobility, Hydrocephalus, Microphthalmia... |
OMIM:602501 |
Cartilage-Hair Hypoplasia |
|
Small hand, Bowing of the long bones, Short neck, Aplasia/Hypoplasia affecting the eye, Neutropen... |
ORPHA:175 |
Microphthalmia, Lenz Type |
|
Iris coloboma, Abnormal clavicle morphology, Finger syndactyly, Chorioretinal coloboma, Camptodac... |
ORPHA:568 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Hepatos... |
ORPHA:93352 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopenia, Leukopenia, ... |
ORPHA:811 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Simpson-Golabi-Behmel Syndrome |
|
Toe syndactyly, Broad thumb, Finger syndactyly, Small nail, Supernumerary nipple, Agenesis of cor... |
ORPHA:373 |
17Q12 Microduplication Syndrome |
|
Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Microphthalmia, Synophrys |
ORPHA:261272 |
Duane-Radial Ray Syndrome |
|
Absent thumb, Short thumb, Sandal gap, Retinal coloboma, Absent radius, Preaxial polydactyly, Opt... |
OMIM:607323 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Osteogenesis Imperfecta, Type Ii |
|
Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Disproportionate short-limb sho... |
OMIM:166210 |
Achondrogenesis Type 1B |
|
Severe short stature, Narrow chest, Disproportionate short stature, Abnormal enchondral ossificat... |
ORPHA:93298 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Narrow chest, Abnormal pelvic girdle bone morphology, Joint dis... |
ORPHA:2097 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventriculomegaly, Disproportionate short-limb short stature, Intrauterine growth retardation, Dec... |
ORPHA:2772 |
Kapur-Toriello Syndrome |
|
Retinal coloboma, Polymicrogyria, Dysplastic corpus callosum, Short neck, Microphthalmia, Pachygy... |
ORPHA:2328 |
Phaver Syndrome |
|
Ulnar deviation of finger, Broad thumb, Abnormal form of the vertebral bodies, Short thumb, Campt... |
ORPHA:2876 |
Greenberg Dysplasia |
|
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp... |
OMIM:215140 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Ventriculomegaly, Congenital contracture, Type II lissencephaly, Encephalocele, Death in infancy,... |
OMIM:613150 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventriculomegaly, Chorioretinal coloboma, Postnatal growth retardation, Intrauterine growth retar... |
ORPHA:494344 |
Temtamy Syndrome |
|
Highly arched eyebrow, Ventriculomegaly, Chorioretinal coloboma, Agenesis of corpus callosum, Bra... |
OMIM:218340 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Hypertrichosis, Butterfly vertebrae, Low posterior hairline, Sprengel anomaly, Cafe-au-lait spot,... |
OMIM:619227 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Ventriculomegaly, Short thumb, Preaxial hand polydactyly, Abnorma... |
ORPHA:1120 |
Mucopolysaccharidosis, Type Iiia |
|
Coarse hair, Umbilical hernia, Joint stiffness, Splenomegaly, Hirsutism, Ovoid thoracolumbar vert... |
OMIM:252900 |
1Q21.1 Microdeletion Syndrome |
|
Iris coloboma, Toe syndactyly, Broad thumb, Intrauterine growth retardation, Clinodactyly of the ... |
ORPHA:250989 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Postaxial foot polydactyly, Postnatal growth retardation, Anophthalmia, Microphth... |
OMIM:206920 |
Linear Nevus Sebaceus Syndrome |
|
Genu recurvatum, Alopecia, Irregular hyperpigmentation, Growth delay, Ventriculomegaly, Melanocyt... |
ORPHA:2612 |
Septopreoptic Holoprosencephaly |
|
Abnormal vertebral morphology, Perisylvian polymicrogyria, Ethmoidal encephalocele, Abnormal rib ... |
ORPHA:280195 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Postnatal growth retar... |
ORPHA:79345 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventriculomegaly, Short clavicles, Wormian bones, Tapered finger, Short stature, Flat acetabular ... |
OMIM:617159 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Growth delay, Abnormal hair morphology, Abnormal thorax morphology, Short neck, Hip dysplasia, Sh... |
OMIM:601427 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum... |
OMIM:250420 |
Diamond-Blackfan Anemia 1 |
|
Bifid thoracic vertebrae, Hypoplastic coccygeal vertebrae, Increased mean corpuscular volume, Per... |
OMIM:105650 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Small hand, Shallow acetabular fossae, Giant platelets, Lateral ventricle dilatation, Postnatal g... |
OMIM:611209 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Slow-growing hair, Brittle hair, Increased HbA2 hemoglobin, Decreased mean co... |
OMIM:616943 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Short distal phalanx of finger, Toe syndactyly, Broad thumb, Broad hallux, Proximal/middle sympha... |
OMIM:184460 |
Poland Syndrome |
|
Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, Hemivertebrae, Unilateral brac... |
OMIM:173800 |
Osteogenesis Imperfecta, Type Iii |
|
Thin ribs, Neonatal short-limb short stature, Disproportionate short-limb short stature, Kyphosis... |
OMIM:259420 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... |
OMIM:618019 |
Jeune Syndrome |
|
Narrow chest, Toe syndactyly, Abnormal clavicle morphology, Short thorax, Abnormal sternum morpho... |
ORPHA:474 |
Achondrogenesis, Type Ia |
|
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Bell-s... |
OMIM:200600 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Umbilical hernia, Long eyelashes, Femoral bowing, Biconcave vertebral bodies, Joint hy... |
OMIM:617952 |
Srd5A3-Cdg |
|
Spotty hyperpigmentation, Optic disc hypoplasia, Hypertrichosis, Microcytic anemia, Coloboma, Abn... |
ORPHA:324737 |
Oculofaciocardiodental Syndrome |
|
Iris coloboma, Highly arched eyebrow, Short thumb, Genu valgum, Flexion contracture of the 4th to... |
ORPHA:2712 |
Fanconi Anemia, Complementation Group R |
|
Absent thumb, Growth delay, Radial dysplasia, Hydrocephalus, Microphthalmia, Anemia, Scoliosis |
OMIM:617244 |
Microphthalmia/Coloboma 5 |
|
Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Iris coloboma |
OMIM:611638 |
Pseudotrisomy 13 Syndrome |
|
Postaxial foot polydactyly, Polymicrogyria, 11 pairs of ribs, Encephalocele, Agenesis of corpus c... |
OMIM:264480 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Subcortical heterotopia, Ventriculomegaly, Polymicrogyria, Type II lissencephaly, Encephalocele, ... |
OMIM:614643 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Supernumerary nipple, Joint hypermobility, Supernumerary ribs, Six lumbar vertebrae, Scapular win... |
OMIM:619122 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Cone-shaped epiphysis, Fair hair, Intrauterine growth retardation, Short metacarpal, Blue irides,... |
OMIM:614613 |
Becker Nevus Syndrome |
|
Pectus carinatum, Hypermelanotic macule, Supernumerary nipple, Abnormal tibia morphology, Rib fus... |
ORPHA:64755 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Severe short stature, Ventriculomegaly, Abnormal epiphysis morphology, Delayed skeletal maturatio... |
ORPHA:2643 |
Congenital Toxoplasmosis |
|
Ventriculomegaly, Intrauterine growth retardation, Abnormality of retinal pigmentation, Hydroceph... |
ORPHA:858 |
Osteoporosis-Pseudoglioma Syndrome |
|
Platyspondyly, Osteopenia, Kyphosis, Pathologic fracture, Increased susceptibility to fractures, ... |
OMIM:259770 |
Microphthalmia/Coloboma 7 |
|
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia |
OMIM:614497 |
Cerebrofaciothoracic Dysplasia |
|
Narrow chest, Coarse hair, Ventriculomegaly, Thick eyebrow, Vertebral segmentation defect, Rib fu... |
ORPHA:1394 |
Stevenson-Carey Syndrome |
|
Joint contracture of the hand, Microphthalmia, Coloboma, Hip dysplasia, Camptodactyly, Scoliosis |
OMIM:611961 |
Meckel Syndrome, Type 8 |
|
Narrow chest, Occipital encephalocele, Encephalocele, Anophthalmia, Polydactyly, Short neck, Micr... |
OMIM:613885 |
Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Platyspondyly, Narrow chest, Disproportionate short stature, Cone-shaped epiphysis, Abnormal scap... |
ORPHA:93317 |
Osteogenesis Imperfecta, Type X |
|
Thin ribs, Genu valgum, Fibular bowing, Death in childhood, Bowing of the long bones, Osteopenia,... |
OMIM:613848 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Abnormal rib cage morphology, Clinodactyly of the 5th finger, Down-sloping shoulders, Proportiona... |
OMIM:227330 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Thin ribs, Short 5th finger, Narrow chest, Short distal phalanx of finger, Triangular shaped dist... |
ORPHA:73230 |
Dysosteosclerosis |
|
Sclerosis of hand bone, Increased intervertebral space, Diaphyseal undertubulation, Irregular ver... |
OMIM:224300 |
Mucopolysaccharidosis, Type Iiic |
|
Coarse hair, Hypertrichosis, Joint stiffness, Splenomegaly, Kyphoscoliosis, Hirsutism, Ovoid thor... |
OMIM:252930 |
Monosomy 18P |
|
Alopecia, Kyphoscoliosis, Low posterior hairline, Short neck, Brachydactyly, Microphthalmia, Shor... |
ORPHA:1598 |
Cole-Carpenter Syndrome 2 |
|
Thin ribs, Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Platyspondyly, Kyph... |
OMIM:616294 |
Craniodiaphyseal Dysplasia |
|
Short stature, Craniofacial hyperostosis, Diaphyseal undertubulation, Abnormal rib morphology |
ORPHA:1513 |
Frontometaphyseal Dysplasia |
|
Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Limited elbow move... |
ORPHA:1826 |
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
Osteogenesis Imperfecta, Type Xvi |
|
Platyspondyly, Osteopenia, Narrow chest, Rhizomelia, Decreased calvarial ossification, Multiple r... |
OMIM:616229 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Umbilical hernia, Abnormal hip bone morphology, Reduced bone mineral den... |
ORPHA:1488 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Abnormal lower limb bone morphology, Increased susceptibility to fractures, Joint hyp... |
ORPHA:2788 |
Gm1-Gangliosidosis, Type I |
|
Severe short stature, Hypertrichosis, Intrauterine growth retardation, Joint stiffness, Splenomeg... |
OMIM:230500 |
Humero-Radial Synostosis |
|
Limitation of joint mobility, Elbow dislocation, Chorioretinal coloboma, Abnormality of the wrist... |
ORPHA:3265 |
Acromesomelic Dysplasia 4 |
|
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Generalized hirsutism, Beaking of ver... |
OMIM:619636 |
Micro Syndrome |
|
Retinal coloboma, Pachygyria, Joint stiffness, Intrauterine growth retardation, Abnormality of re... |
ORPHA:2510 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Fibular apl... |
OMIM:274000 |
Renpenning Syndrome |
|
Severe short stature, Iris coloboma, Alopecia, Abnormal hairshaft morphology, Thin eyebrow, Joint... |
ORPHA:3242 |
Fibrochondrogenesis |
|
Narrow chest, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Abnormal diaphysis mor... |
ORPHA:2021 |
Ring Chromosome 10 Syndrome |
|
Sandal gap, Intrauterine growth retardation, Short neck, Microphthalmia, Pectus excavatum, Tapere... |
ORPHA:1438 |
Abruzzo-Erickson Syndrome |
|
Short stature, Radioulnar synostosis, Coloboma |
OMIM:302905 |
Incontinentia Pigmenti |
|
Supernumerary nipple, Hypoplasia of the fovea, Microphthalmia, Sparse hair, Onychogryposis, Alope... |
OMIM:308300 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre... |
OMIM:616860 |
Achondrogenesis Type 1A |
|
Severe short stature, Narrow chest, Abnormal enchondral ossification, Umbilical hernia, Multiple ... |
ORPHA:93299 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tu... |
ORPHA:85184 |
Mucopolysaccharidosis, Type Ivb |
|
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Disproportionate short-t... |
OMIM:253010 |
Joubert Syndrome 22 |
|
Postaxial foot polydactyly, Intrauterine growth retardation, 2-3 toe syndactyly, Coloboma, Postax... |
OMIM:615665 |
Congenital Rubella Syndrome |
|
Intrauterine growth retardation, Abnormal metaphysis morphology, Splenomegaly, Aplasia/Hypoplasia... |
ORPHA:290 |
Mucopolysaccharidosis, Type Iiib |
|
Coarse hair, Joint stiffness, Splenomegaly, Hirsutism, Ovoid thoracolumbar vertebrae, Synophrys, ... |
OMIM:252920 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Platyspondyly, Osteopenia, Ventriculomegaly, Thoracic hypoplasia, Flared metaphysis, Decreased fi... |
OMIM:616897 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Genu valgum, Decreased skull ossification, Abnormal metacarpal morphology, ... |
ORPHA:1452 |
Osteogenesis Imperfecta |
|
Thin ribs, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Decreased skull o... |
ORPHA:666 |
Microphthalmia With Limb Anomalies |
|
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Postaxial fo... |
ORPHA:1106 |
Apert Syndrome |
|
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... |
OMIM:101200 |
Majeed Syndrome |
|
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... |
OMIM:609628 |
3C Syndrome |
|
Iris coloboma, Ventriculomegaly, Finger syndactyly, Chorioretinal coloboma, Hypoplastic fingernai... |
ORPHA:7 |
Mosaic Trisomy 1 |
|
Toe syndactyly, Lateral ventricle dilatation, Broad 2nd toe, Small nail, Agenesis of corpus callo... |
ORPHA:1692 |
15Q24 Microdeletion Syndrome |
|
Small hand, High anterior hairline, Clinodactyly, Myelomeningocele, Postnatal growth retardation,... |
ORPHA:94065 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Small nail, Lateral ventricle dilatation, Polymicrogyria, Absent distal phalanges, Low ... |
OMIM:614219 |
Joubert Syndrome 37 |
|
Lumbar hyperlordosis, Joint hypermobility, Postaxial polydactyly, Microphthalmia, Short stature, ... |
OMIM:619185 |
Warburg Micro Syndrome 3 |
|
Ventriculomegaly, Hypertrichosis, Polymicrogyria, Postnatal growth retardation, Ankle clonus, Kyp... |
OMIM:614222 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Joint hypermobility, Missing ribs, Arachnodactyly, Hemiver... |
ORPHA:2759 |
Subaortic Stenosis-Short Stature Syndrome |
|
Synostosis of carpal bones, Short neck, Microphthalmia, Short stature, Scoliosis, Kyphosis |
ORPHA:3191 |
Moebius Syndrome |
|
Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger, Aplasia/Hypopla... |
OMIM:157900 |
Mycophenolate Mofetil Embryopathy |
|
Bifid thoracic vertebrae, Tracheomalacia, Chorioretinal coloboma, Hypoplastic toenails, Agenesis ... |
ORPHA:268249 |
Cenani-Lenz Syndrome |
|
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Abnormal for... |
ORPHA:3258 |
Osteogenesis Imperfecta, Type Viii |
|
Thin ribs, Radial bowing, Barrel-shaped chest, Decreased skull ossification, Multiple prenatal fr... |
OMIM:610915 |
Mosaic Trisomy 9 |
|
Ventriculomegaly, Limitation of joint mobility, Elbow dislocation, Finger clinodactyly, Camptodac... |
ORPHA:99776 |
Mosaic Trisomy 8 |
|
Narrow chest, Hypopigmentation of the skin, Limitation of joint mobility, Arthrogryposis multiple... |
ORPHA:96061 |
Abruzzo-Erickson Syndrome |
|
Ulnar deviation of finger, Toe syndactyly, Short toe, Chorioretinal coloboma, Radioulnar synostos... |
ORPHA:921 |
Hallermann-Streiff Syndrome |
|
Thin ribs, Chorioretinal coloboma, Sparse eyelashes, Microphthalmia, Sparse hair, Iris coloboma, ... |
OMIM:234100 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Pectus carinatum, Lumbar hyperlordosis, Low anterior hairline, Lumbar scoliosis, Cervical C2/C3 v... |
OMIM:617796 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Pectus carinatum, Craniofacial hyperostosis, Limitation of joint mobility, Delayed skeletal matur... |
ORPHA:3068 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Broad clavicles, Osteopenia, Carpal osteolysis, Abnormal form of the vertebral bodies, Pterygium,... |
ORPHA:371428 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sparse eyebrow, Ventriculomegaly, Sandal gap, Small nail, Supernumerary nipple, Vertebral segment... |
OMIM:612530 |
Steinfeld Syndrome |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Retinal coloboma, Missing rib... |
OMIM:184705 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Type II lissencephaly, Ventriculomegaly, Hydrocephalus, Microphthalmia |
OMIM:614830 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Increased mean corpuscular volume |
OMIM:277410 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Highly arched eyebrow, Sandal gap, Nail dystrophy, Agenesis of corpus callosum, Microphthalmia, S... |
OMIM:300887 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Slender finger, Highly arched eyebrow, Broad thumb, Umbilical hernia, Long eyelashes, Clinodactyl... |
ORPHA:329224 |
Alkaptonuria |
|
Limited hip movement, Intervertebral disk degeneration, Arthropathy, Low back pain, Limited shoul... |
OMIM:203500 |
Hurler Syndrome |
|
Abnormal vertebral morphology, Abnormal clavicle morphology, Limitation of joint mobility, Abnorm... |
ORPHA:93473 |
Distal Duplication 18Q |
|
Progressive intervertebral space narrowing, Deviation of finger, Camptodactyly of finger, Clinoda... |
ORPHA:1716 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Iris coloboma, Chorioretinal coloboma, Microphthalmia |
OMIM:120433 |
Fetal Alcohol Syndrome |
|
Joint stiffness, Intrauterine growth retardation, Vertebral segmentation defect, Generalized hirs... |
ORPHA:1915 |
Distal Deletion 13Q |
|
Abnormal form of the vertebral bodies, Encephalocele, Anencephaly, Aplasia/Hypoplasia of the thum... |
ORPHA:1590 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lateral ventricle dilatation, Sandal gap, Umbilical hernia, Joint contracture of the 5th finger, ... |
OMIM:618914 |
Bent Bone Dysplasia Syndrome 2 |
|
Thin ribs, Osteopenia, Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, ... |
OMIM:620076 |
Thakker-Donnai Syndrome |
|
Intrauterine growth retardation, Agenesis of corpus callosum, Cervical C2/C3 vertebral fusion, Sh... |
ORPHA:1780 |
Joubert Syndrome With Ocular Defect |
|
Abnormal vertebral morphology, Highly arched eyebrow, Retinal coloboma, Polymicrogyria, Encephalo... |
ORPHA:220493 |
Shwachman-Diamond Syndrome 1 |
|
Narrow chest, Proximal femoral epiphysiolysis, Delayed skeletal maturation, Persistence of hemogl... |
OMIM:260400 |
Frontorhiny |
|
Cranium bifidum occultum, Iris coloboma, Finger clinodactyly, Camptodactyly of finger, Lumbar hyp... |
ORPHA:391474 |
Microphthalmia With Brain And Digit Anomalies |
|
Postaxial foot polydactyly, Finger syndactyly, Chorioretinal coloboma, Anophthalmia, Agenesis of ... |
ORPHA:139471 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Clinodactyly of the 5th finger, Coloboma, Iris transillumination defect, Osteopetrosis, Generaliz... |
OMIM:617306 |
Focal Dermal Hypoplasia |
|
Toe syndactyly, Finger syndactyly, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Patent ... |
ORPHA:2092 |
Microphthalmia/Coloboma 3 |
|
Iris coloboma, Microphthalmia |
OMIM:610092 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Horizontal eyebrow, Retinal coloboma, Overlapping toe, Short neck, Microphthalmia, Short stature,... |
OMIM:618571 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Epiphyseal dysplasia, Sparse scalp hair, Radial bowing, Carpal synostosis, Genu valgum, Short nec... |
OMIM:271640 |
Intellectual Developmental Disorder, Autosomal Recessive 67 |
|
Short stature, Coloboma |
OMIM:618295 |
Incontinentia Pigmenti |
|
Finger syndactyly, Hypopigmented skin patches, Supernumerary nipple, Abnormal hair morphology, Ab... |
ORPHA:464 |
Poland Syndrome |
|
Acute leukemia, Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Encephalocele, ... |
ORPHA:2911 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Microphthalmia |
ORPHA:35612 |
Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Ventriculomegaly, Polymicrogyria, Metatarsus valgus, Anophthalmia, Ag... |
ORPHA:899 |
Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Short distal phalanx of finger, Alopecia, Ventriculomegaly, Finger sy... |
ORPHA:1647 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Microphthalmia |
ORPHA:1574 |
Three M Syndrome 2 |
|
Severe short stature, Pectus carinatum, Thin ribs, Short 5th finger, Clinodactyly, Delayed skelet... |
OMIM:612921 |
X-Linked Hypophosphatemia |
|
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Vertebral hyperostosis, Genu... |
ORPHA:89936 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Abnormally large globe, Flared metaphysis, Broad long bones, Broad ribs, Sclerosis of... |
OMIM:269300 |
Fanconi Anemia, Complementation Group C |
|
Anterior wedging of T12, Absent thumb, Short thumb, Absent radius, Pancytopenia, Intrauterine gro... |
OMIM:227645 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Short stature, Growth delay, Microphthalmia |
ORPHA:2528 |
Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Neonatal death, Radial head subluxation, Microphthalm... |
OMIM:146510 |
Anophthalmia Plus Syndrome |
|
Deviation of finger, Anophthalmia, Vertebral segmentation defect, Spina bifida, Iris coloboma |
ORPHA:1104 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormality of the... |
ORPHA:1834 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pectus carinatum, Ventriculomegaly, Agenesis of corpus callosum, 2-3 toe syndactyly, Microphthalm... |
OMIM:616449 |
Focal Dermal Hypoplasia |
|
Toe syndactyly, Midclavicular aplasia, Chorioretinal coloboma, Supernumerary nipple, Absent toena... |
OMIM:305600 |
Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... |
ORPHA:894 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Polymicrogyria, Type II lissencephaly, Encephalocele, Agenesis of corpus callosum, Hydrocephalus,... |
OMIM:253800 |
Facial Clefting, Oblique, 1 |
|
Coloboma, Microphthalmia |
OMIM:600251 |
Kenny-Caffey Syndrome, Type 1 |
|
Thin ribs, Small hand, Slender long bone, Delayed skeletal maturation, Intrauterine growth retard... |
OMIM:244460 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Delayed cranial suture closure, Cutaneous finger syndactyly, Humeroradial synostosis, Agenesis of... |
OMIM:151050 |
Campomelia, Cumming Type |
|
Clubbing of toes, Abnormal thorax morphology, Death in infancy, Bowing of the long bones, Aplasia... |
ORPHA:1318 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Alopecia, Hypopigmentation of the skin, Hypophosphatemic rickets, Kyphoscoliosis, Col... |
OMIM:163200 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pectus carinatum, Deviation of the 2nd finger, Sparse eyebrow, Dilated third ventricle, Lateral v... |
ORPHA:464738 |
Woolly Hair |
|
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... |
ORPHA:170 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Pachygyria, Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Microphthalmia... |
OMIM:251270 |
Jacobsen Syndrome |
|
Chorioretinal coloboma, Intrauterine growth retardation, Clinodactyly of the 5th finger, Missing ... |
OMIM:147791 |
3Q29 Microdeletion Syndrome |
|
Pectus carinatum, Joint hypermobility, Six lumbar vertebrae, Abnormality of skin pigmentation, Mi... |
ORPHA:65286 |
Apert Syndrome |
|
Ventriculomegaly, Toe syndactyly, Broad thumb, Finger syndactyly, Cervical C5/C6 vertebrae fusion... |
ORPHA:87 |
Premature Aging Syndrome, Penttinen Type |
|
Thin ribs, Short distal phalanx of finger, Sparse hair, Slender long bone, Delayed skeletal matur... |
OMIM:601812 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Acro-Renal-Mandibular Syndrome |
|
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Kyphosis, Finger... |
ORPHA:958 |
Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Di... |
OMIM:253200 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Foot polydactyly, Vertebral segmentation defect, Missing ribs, Aplasia/Hypoplasia of the thumb, A... |
ORPHA:3186 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
3P25.3 Microdeletion Syndrome |
|
Broad thumb, Broad hallux, Overlapping toe, Knee flexion contracture, Postaxial polydactyly, 2-3 ... |
ORPHA:435638 |
Fibrous Dysplasia Of Bone |
|
Osteomalacia, Abnormal tibia morphology, Large cafe-au-lait macules with irregular margins, Bowin... |
ORPHA:249 |
Hypophosphatasia |
|
Narrow chest, Abnormal metaphysis morphology, Bowing of the long bones, Abnormal rib morphology, ... |
ORPHA:436 |
Lissencephaly 8 |
|
Ventriculomegaly, Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Microphthalmia,... |
OMIM:617255 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Iris coloboma, Optic disc coloboma, Agenesis of corpus callosum, Short neck, Short stature, Pectu... |
ORPHA:52055 |
Mmep Syndrome |
|
Triphalangeal thumb, Split foot, Microphthalmia |
ORPHA:3434 |
Mucopolysaccharidosis, Type X |
|
Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib... |
OMIM:619698 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Prominent fingertip pads, Polymicrogyria, Overlapping toe, Overlapping fingers, Joint hypermobili... |
OMIM:618494 |
Chops Syndrome |
|
Coarse hair, Tracheomalacia, Long eyelashes, Thick eyebrow, Splenomegaly, Cervical C2/C3 vertebra... |
OMIM:616368 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Polymicrogyria, Microcytic anemia, Hypertrichosis, Coloboma, Abnormality of skin pigmentation, Mi... |
OMIM:612379 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Bell-shaped thorax, Encephalocele, Microphthalmia, Flat acetabular roof, Patent duct... |
OMIM:616300 |
Schwartz-Jampel Syndrome |
|
Elbow dislocation, Genu valgum, Hip contracture, Bowing of the long bones, Generalized hirsutism,... |
ORPHA:800 |
Meier-Gorlin Syndrome 1 |
|
Thin ribs, Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndact... |
OMIM:224690 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Coronal craniosynostosis, Alopecia, Fine hair, Intrauterine growth retardation, Encephalocele, Ag... |
ORPHA:228390 |
Hartsfield Syndrome |
|
Aplasia/Hypoplasia of the radius, Intrauterine growth retardation, Encephalocele, Split hand, Mic... |
ORPHA:2117 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Widened greater sciatic notch, Short neck, Horizontal inferior b... |
OMIM:250220 |
Holzgreve Syndrome |
|
Joint stiffness, Intrauterine growth retardation, Abnormal morphology of ulna, Hand polydactyly, ... |
ORPHA:2167 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin ribs, Small hand, Delayed skeletal maturation, Delayed cranial suture closure, Postnatal gro... |
ORPHA:93324 |
Cataract 9, Multiple Types |
|
Iris coloboma, Microphthalmia |
OMIM:604219 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis |
OMIM:611590 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Severe short stature, Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the ha... |
OMIM:184253 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Leukopenia, Elliptocytosis, Anisocytosis, Bone spicule pigmentation of the retina, Hypochromia, P... |
OMIM:616959 |
Hajdu-Cheney Syndrome |
|
Genu valgum, Fibular bowing, Crowded carpal bones, Short neck, Dislocated radial head, Iris colob... |
OMIM:102500 |
Elliptocytosis 3 |
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Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis |
OMIM:617948 |
Frontometaphyseal Dysplasia 2 |
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Congenital hip dislocation, Broad thumb, Finger clinodactyly, Elbow contracture, Flared metaphysi... |
OMIM:617137 |
Spondylodysplastic Ehlers-Danlos Syndrome |
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Abnormal vertebral morphology, Subluxation of the small joints of the hand, Dysplasia of the femo... |
ORPHA:536471 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
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Retinal pigment epithelial mottling, Broad hallux, Lateral ventricle dilatation, Periventricular ... |
OMIM:614105 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Hepatosplenomegaly, Reticulocytopenia, Dysplastic erythropoesis, Anisopoikilocytosis, Anemia, Dec... |
ORPHA:300298 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Shallow acetabular fossae, Toe syndactyly, Broad thumb, Hypoplastic iliac wing, Short neck, Aplas... |
OMIM:609945 |
Monosomy 9Q22.3 |
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Ventriculomegaly, Abnormality of the vertebral column, Umbilical hernia, Metopic synostosis, Join... |
ORPHA:77301 |
Triploidy |
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Narrow chest, Finger syndactyly, Intrauterine growth retardation, Decreased skull ossification, S... |
ORPHA:3376 |
Momo Syndrome |
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Chorioretinal coloboma, Bilateral microphthalmos, Femoral bowing, Short sternum, Short neck, Abno... |
ORPHA:2563 |
Trichothiodystrophy |
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Neutropenia, Brittle hair, Split nail, Clubbing, Osteopenia, Joint dislocation, Delayed skeletal ... |
ORPHA:33364 |
Postaxial Acrofacial Dysostosis |
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Congenital hip dislocation, Supernumerary vertebrae, Short thumb, Supernumerary nipple, Postnatal... |
OMIM:263750 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
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Microphthalmia |
OMIM:251700 |
Fanconi Anemia, Complementation Group F |
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Absent thumb, Short thumb, Intrauterine growth retardation, Leukopenia, 2-3 finger syndactyly, Hy... |
OMIM:603467 |
Trichothiodystrophy 4, Nonphotosensitive |
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Small nail, Trichorrhexis nodosa, Microphthalmia, Concave nail, Nail dystrophy, Sparse eyelashes,... |
OMIM:234050 |
Stuve-Wiedemann Syndrome 1 |
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Thin ribs, Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Short neck, Hypoplasti... |
OMIM:601559 |
Trisomy 1Q |
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Aplasia/Hypoplasia of the nails, Ventriculomegaly, Toe syndactyly, Short thorax, Camptodactyly of... |
ORPHA:261344 |
Joubert Syndrome 23 |
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Dysplastic corpus callosum, Coloboma, Polydactyly |
OMIM:616490 |
Mucopolysaccharidosis Type 6 |
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Epiphyseal dysplasia, Broad ribs, Joint stiffness, Genu valgum, Splenomegaly, Short neck, Disprop... |
ORPHA:583 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
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Foot oligodactyly, Anterior encephalocele, Coloboma, Scoliosis, Short femur |
OMIM:601357 |
Robinow Syndrome |
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Short distal phalanx of finger, High anterior hairline, Small nail, Umbilical hernia, Kyphoscolio... |
ORPHA:97360 |
Laryngotracheoesophageal Cleft Type 4 |
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Abnormality of the spleen, Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:93941 |
Fanconi Anemia, Complementation Group J |
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Short thumb, Postnatal growth retardation, Intrauterine growth retardation, Multiple cafe-au-lait... |
OMIM:609054 |
Joubert Syndrome |
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Highly arched eyebrow, Abnormal form of the vertebral bodies, Polymicrogyria, Encephalocele, Abno... |
ORPHA:475 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Cone-shaped epiphysis, Thoracic hypoplasia, Metaphyseal spurs, Preaxial polydactyly, Acetabular s... |
OMIM:613091 |
Familial Osteodysplasia, Anderson Type |
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Aplastic clavicle, Bifid femur, Kyphosis, Elbow dislocation, Abnormal form of the vertebral bodie... |
ORPHA:2769 |
Hajdu-Cheney Syndrome |
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Decreased skull ossification, Bowing of the long bones, Generalized hirsutism, Short neck, Patell... |
ORPHA:955 |
Alagille Syndrome |
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Short distal phalanx of finger, Abnormal form of the vertebral bodies, Delayed skeletal maturatio... |
ORPHA:52 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
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Sparse eyebrow, High anterior hairline, Prominent fingertip pads, Supernumerary nipple, Thick eye... |
OMIM:620098 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Narrow chest, Short tibia, Preaxial polydactyly, Microphthalmia, Horizontal ribs, Long thorax, Sh... |
OMIM:617925 |
Refractory Anemia With Excess Blasts |
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Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le... |
ORPHA:86839 |
Lateral Meningocele Syndrome |
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Iris coloboma, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Umbilical hernia... |
ORPHA:2789 |
Nestor-Guillermo Progeria Syndrome |
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Thin ribs, Limited elbow movement, Sparse eyelashes, Alopecia, Sparse eyebrow, Spotty hyperpigmen... |
OMIM:614008 |
3Q29 Microduplication Syndrome |
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Toe syndactyly, Sandal gap, Aniridia, Camptodactyly of toe, Short neck, Microphthalmia, Craniosyn... |
ORPHA:251038 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
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Broad thumb, Camptodactyly of finger, Supernumerary nipple, Abnormal thorax morphology, Microphth... |
ORPHA:1236 |
Joubert Syndrome With Renal Defect |
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Highly arched eyebrow, Polymicrogyria, Encephalocele, Agenesis of corpus callosum, Hand polydacty... |
ORPHA:220497 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
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Iris coloboma, Chorioretinal coloboma, Microphthalmia |
ORPHA:1473 |
Vacterl With Hydrocephalus |
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Absence of the sacrum, Abnormal form of the vertebral bodies, Intrauterine growth retardation, An... |
ORPHA:3412 |
Roberts Syndrome |
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Synostosis of carpal bones, Finger syndactyly, Postnatal growth retardation, Patellar aplasia, Bo... |
ORPHA:3103 |
Prune Belly Syndrome |
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Congenital hip dislocation, Vertebral segmentation defect, Abnormal rib morphology, Pectus excava... |
ORPHA:2970 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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Arthrogryposis-like hand anomaly, Horizontal eyebrow, Clinodactyly, Bilateral microphthalmos, Umb... |
ORPHA:369891 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
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Highly arched eyebrow, Broad distal phalanx of finger, Postaxial foot polydactyly, Low anterior h... |
ORPHA:404440 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
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Short stature, Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
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Limitation of joint mobility, Camptodactyly of finger, Microphthalmia, Patent ductus arteriosus, ... |
ORPHA:2547 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Hypoplasia of the odontoid process, Broad long bones, Disproportionate short-trunk short stature,... |
OMIM:300106 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Thin ribs, Osteopenia, Lumbar hemivertebrae, Thin metatarsal cortices, Thin metacarpal cortices, ... |
ORPHA:2463 |
Teebi-Shaltout Syndrome |
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Sparse hair, Pectus carinatum, Highly arched eyebrow, Caudal appendage, Microphthalmia, Low anter... |
OMIM:272950 |
Coach Syndrome 2 |
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Coloboma, Hydrocephalus, Chorioretinal coloboma, Agenesis of corpus callosum |
OMIM:619111 |
Premature Ovarian Failure 12 |
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Microphthalmia |
OMIM:616947 |
Dominant Beta-Thalassemia |
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Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231226 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
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Sparse hair, Osteopenia, Small hand, Broad thumb, Slender finger, Broad hallux, Fine hair, Postna... |
ORPHA:251028 |
Cataract 11, Multiple Types |
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Microphthalmia |
OMIM:610623 |
Mucolipidosis Iii Alpha/Beta |
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Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Spon... |
OMIM:252600 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
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Flexion contracture, Hydrocephalus, Microphthalmia |
OMIM:613155 |
Osteogenesis Imperfecta, Type Vii |
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Osteopenia, Narrow chest, Rhizomelia, Delayed cranial suture closure, Crumpled long bones, Death ... |
OMIM:610682 |
Microphthalmia, Syndromic 12 |
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Microphthalmia, Anophthalmia, Neonatal death |
OMIM:615524 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
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Microphthalmia, Ventriculomegaly, Death in infancy, Neonatal death |
OMIM:613730 |
Fanconi Anemia, Complementation Group S |
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Clinodactyly, Long eyelashes, Low anterior hairline, Microphthalmia, Anemia, Sparse hair, Short s... |
OMIM:617883 |
Xeroderma Pigmentosum, Complementation Group G |
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Growth delay, Microphthalmia |
OMIM:278780 |
Kyphomelic Dysplasia |
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Platyspondyly, Disproportionate short stature, Limitation of joint mobility, Thoracic hypoplasia,... |
OMIM:211350 |
Chromosome 13Q33-Q34 Deletion Syndrome |
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Narrow chest, Short t |