Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
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Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Bent Bone Dysplasia Syndrome 2 |
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Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Atrial septal defect, Short tibia... |
OMIM:620076 |
Congenital Radioulnar Synostosis |
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Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Multiple Epiphyseal Dysplasia, Beighton Type |
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Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... |
ORPHA:166011 |
Symbrachydactyly Of Hands And Feet |
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Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
Spondylocarpotarsal Synostosis Syndrome |
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Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... |
OMIM:272460 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Single transverse palmar crease, Micromelia, Short neck, Partial agenesis of the corpus callosum,... |
OMIM:210710 |
Kyphomelic Dysplasia |
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Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Bo... |
OMIM:211350 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Metaphyseal Anadysplasia |
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Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Aplasia/Hypoplasia of the... |
ORPHA:1040 |
Spondylometaphyseal Dysplasia, Algerian Type |
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Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Trisomy 13 |
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Anophthalmia, Atrial septal defect, Intrauterine growth retardation, Iris coloboma, Bilateral sin... |
ORPHA:3378 |
Boomerang Dysplasia |
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Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,... |
ORPHA:1263 |
Brachydactyly, Type B1 |
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Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Ulnar Hemimelia |
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Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
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Finger syndactyly, Epicanthus, Short stature, Microcephaly, Synophrys, Delayed skeletal maturatio... |
ORPHA:3268 |
2Q24 Microdeletion Syndrome |
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Toe syndactyly, Small for gestational age, Camptodactyly of finger, Cataract, Short neck, Long fi... |
ORPHA:1617 |
Weismann-Netter Syndrome |
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Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Heart-Hand Syndrome Type 2 |
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Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... |
ORPHA:1350 |
Dysspondyloenchondromatosis |
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Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... |
ORPHA:85198 |
Microphthalmia With Limb Anomalies |
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Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Campt... |
OMIM:206920 |
Osteogenesis Imperfecta, Type Xvii |
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Joint laxity, Decreased muscle mass, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Short st... |
OMIM:616507 |
Al-Gazali Syndrome |
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Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Sclerocornea, Co... |
OMIM:609465 |
Robin Sequence-Oligodactyly Syndrome |
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Abnormal morphology of ulna, Hand oligodactyly, Abnormal form of the vertebral bodies, Abnormal m... |
ORPHA:3104 |
Pseudoachondroplasia |
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Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Fanconi Anemia, Complementation Group I |
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Decreased response to growth hormone stimulation test, Short neck, Neutropenia, Atrial septal def... |
OMIM:609053 |
Galloway-Mowat Syndrome 6 |
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Epicanthus, Short stature, Decreased response to growth hormone stimulation test, Microcephaly, D... |
OMIM:618347 |
Mesomelic Dysplasia, Nievergelt Type |
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Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Camptodactyly of fi... |
ORPHA:2633 |
Pseudoachondroplasia |
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Genu recurvatum, Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Os... |
OMIM:177170 |
Léri-Weill Dyschondrosteosis |
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Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Leri-Weill Dyschondrosteosis |
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Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Cartilage-Hair Hypoplasia |
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Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal f... |
ORPHA:175 |
Fibular Hemimelia |
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Anophthalmia, Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, A... |
ORPHA:93323 |
Kniest Dysplasia |
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Arthropathy, Enlarged epiphyses, Enlarged joints, Rhegmatogenous retinal detachment, Abnormality ... |
ORPHA:485 |
Ulna Metaphyseal Dysplasia Syndrome |
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Abnormal morphology of ulna, Delayed skeletal maturation, Abnormal fibula morphology, Abnormal fo... |
ORPHA:1837 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
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Small for gestational age, Ataxia, Cryptorchidism, Delayed skeletal maturation, Hypogonadism, Mic... |
ORPHA:3363 |
Otopalatodigital Syndrome Type 1 |
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Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
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Corneal opacity, Short stature, Abnormal form of the vertebral bodies, Reduced bone mineral densi... |
ORPHA:2370 |
Atelosteogenesis, Type Ii |
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Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Micromelia, Short neck, Increased interverte... |
OMIM:256050 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
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Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... |
ORPHA:1275 |
Multiple Epiphyseal Dysplasia Type 4 |
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Cervical kyphosis, Accelerated skeletal maturation, Abnormal hand morphology, Metaphyseal widenin... |
ORPHA:93307 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
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Hypoplasia of the fovea, Epicanthus, Microcephaly, Optic atrophy, Upslanted palpebral fissure, Ir... |
OMIM:620086 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
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Abnormal morphology of ulna, Short neck, Obesity, Hypogonadism, Abnormal metacarpal morphology, A... |
ORPHA:2233 |
Langer Mesomelic Dysplasia |
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Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
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Syndactyly, Small for gestational age, Upper limb phocomelia, Abnormal heart morphology, Abnormal... |
ORPHA:294975 |
Femur-Fibula-Ulna Complex |
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Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Fanconi Anemia |
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Abnormal eyelid morphology, Abnormal femur morphology, Reduced bone mineral density, Leukopenia, ... |
ORPHA:84 |
Alg6-Cdg |
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Puberty and gonadal disorders, Rod-cone dystrophy, Decreased LDL cholesterol concentration, Short... |
ORPHA:79320 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
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Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Overweight, Tr... |
ORPHA:370010 |
Mucopolysaccharidosis-Plus Syndrome |
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Short neck, Metaphyseal widening, Synophrys, Flexion contracture, Leukopenia, Chorioretinal hypop... |
OMIM:617303 |
Xeroderma Pigmentosum, Complementation Group G |
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Cataract, Small for gestational age, Microcephaly, Defective DNA repair after ultraviolet radiati... |
OMIM:278780 |
Chondroectodermal Dysplasia With Night Blindness |
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Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Short stature, ... |
ORPHA:319195 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
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Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Abnormal bone ossification, H... |
ORPHA:93315 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthr... |
OMIM:602111 |
Ophthalmomandibulomelic Dysplasia |
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Corneal opacity, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobi... |
ORPHA:2741 |
Walker-Warburg Syndrome |
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Skeletal muscle atrophy, Hypoplasia of penis, Anophthalmia, Chorioretinal dysplasia, Microcornea,... |
ORPHA:899 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
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Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the fibula... |
ORPHA:2141 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
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Short humerus, Trident pelvis, Bowed humerus, Hypospadias, Flexion contracture, Lateral ventricle... |
OMIM:619479 |
Posterior Polymorphous Corneal Dystrophy |
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Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Bone Marrow Failure Syndrome 3 |
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Congenital hip dislocation, Aplastic anemia, Pancreatic steatosis, Reduced bone mineral density, ... |
OMIM:617052 |
Alg12-Cdg |
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Proximal placement of thumb, Recurrent hypoglycemia, Hypoalbuminemia, Abnormal bone ossification,... |
ORPHA:79324 |
Edinburgh Malformation Syndrome |
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Failure to thrive, Neonatal hyperbilirubinemia, Accelerated skeletal maturation |
OMIM:129850 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
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Decreased muscle mass, Hypertriglyceridemia, Arachnodactyly, Short stature, Microcephaly, Microcy... |
OMIM:619013 |
Microphthalmia With Brain And Digit Anomalies |
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Finger syndactyly, Cataract, Anophthalmia, Retinal dystrophy, Sclerocornea, Proximal placement of... |
ORPHA:139471 |
Congenital Disorder Of Glycosylation, Type Ih |
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Short neck, Decreased circulating T4 concentration, Cryptorchidism, Patent ductus arteriosus, Thr... |
OMIM:608104 |
Fanconi Anemia, Complementation Group G |
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Abnormality of chromosome stability, Microcephaly, Abnormal thumb morphology, Thrombocytopenia, G... |
OMIM:614082 |
Fanconi Anemia, Complementation Group C |
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Flexion contracture, Anterior wedging of T12, Reticulocytopenia, Neutropenia, Complete duplicatio... |
OMIM:227645 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
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Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... |
ORPHA:2639 |
Osteogenesis Imperfecta, Type Xiii |
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Skeletal muscle atrophy, Femoral bowing, Reduced bone mineral density, Dislocated radial head, An... |
OMIM:614856 |
Fibrodysplasia Ossificans Progressiva |
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Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... |
ORPHA:337 |
Kbg Syndrome |
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Vertebral fusion, Telecanthus, Persistent open anterior fontanelle, Short stature, Single transve... |
ORPHA:2332 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
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Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... |
OMIM:171480 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Multiple Synostoses Syndrome 2 |
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Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... |
OMIM:610017 |
Acrodysostosis |
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Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... |
ORPHA:950 |
Aarskog-Scott Syndrome |
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Short palm, Finger syndactyly, Inguinal hernia, Genu recurvatum, Camptodactyly of finger, Single ... |
ORPHA:915 |
Fanconi Anemia, Complementation Group S |
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Chromosome breakage, Epicanthus, Short stature, Proximal placement of thumb, Microcephaly, Ovaria... |
OMIM:617883 |
Microphthalmia, Syndromic 3 |
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Anophthalmia, Anterior pituitary hypoplasia, Sclerocornea, Hemivertebrae, Micropenis, Agenesis of... |
OMIM:206900 |
Mucolipidosis Ii Alpha/Beta |
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Osteopenia, Increased serum beta-hexosaminidase, Cardiomegaly, Metaphyseal widening, Megalocornea... |
OMIM:252500 |
Holoprosencephaly |
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Hypoplasia of penis, Anophthalmia, Congenital diaphragmatic hernia, Short neck, Abnormality of th... |
ORPHA:2162 |
Ring Chromosome 21 Syndrome |
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Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Azoospermia, Gait disturbance, Sco... |
ORPHA:1445 |
Anophthalmia Plus Syndrome |
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Anophthalmia, Spina bifida, Deviation of finger, Vertebral segmentation defect, Eyelid coloboma, ... |
ORPHA:1104 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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11 pairs of ribs, Hypoplasia of penis, Anophthalmia, Hypospadias, Ventricular septal defect, Scle... |
ORPHA:77298 |
Microphthalmia, Isolated, With Coloboma 10 |
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Anophthalmia, Microcoria, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:616428 |
Solitary Bone Cyst |
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Back pain, Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Abnormal form of... |
ORPHA:83468 |
Hypercholanemia, Familial, 2 |
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Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
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Vertebral fusion, Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlor... |
OMIM:606612 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
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Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion... |
OMIM:618022 |
Spondylometaphyseal Dysplasia, Type A4 |
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Brachydactyly, Severe short stature, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, E... |
OMIM:609052 |
Trichothiodystrophy |
|
Osteopenia, Joint dislocation, Multiple joint contractures, Partial agenesis of the corpus callos... |
ORPHA:33364 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Cataract, Rhizomelia, Anophthalmia, Sclerocornea, Hypospadias, Precocious puberty, 2-... |
OMIM:615877 |
Galloway-Mowat Syndrome 1 |
|
Epicanthus, Cataract, Small for gestational age, Short stature, Microcephaly, Optic atrophy, Hypo... |
OMIM:251300 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... |
ORPHA:168549 |
Carpenter Syndrome 1 |
|
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Short neck, Micro... |
OMIM:201000 |
Bilateral Acute Depigmentation Of The Iris |
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Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Short neck, Microcephaly, Pericardial effus... |
OMIM:613885 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Microcornea, Vertebral segmentation defect, Triphalangeal thumb, Chorioret... |
ORPHA:959 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus |
OMIM:618845 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Accelerated skeletal maturation, Synophrys, Short metatarsal, Short phalanx o... |
OMIM:619636 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
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Vertebral fusion, Vaginal hernia, Abnormal dental enamel morphology, Elbow dislocation, Kyphosis,... |
ORPHA:2916 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Coxa vara, Patchy reduction of b... |
ORPHA:249 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Epicanthus, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, D... |
ORPHA:2831 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, 2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Laterally curved ey... |
OMIM:300166 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Gorlin Syndrome |
|
Vertebral fusion, Epicanthus, Telecanthus, Arachnodactyly, Cataract, Hypogonadotropic hypogonadis... |
ORPHA:377 |
Dysostosis Multiplex, Ain-Naz Type |
|
Severe short stature, Glenoid fossa hypoplasia, Hip dislocation, Hemivertebrae, Flat acetabular r... |
OMIM:619345 |
Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Knee dislocation, Shallow orbits, Atrial septal defect, Spin... |
OMIM:150250 |
Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability, Optic disc hypoplasia, Hypergonadotropic hypogonadism, Aplas... |
OMIM:300514 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Branchial cyst, Small for gestational age, Optic nerve hypoplasia... |
OMIM:615583 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Distal Deletion 6P |
|
Atrial septal defect, Epicanthus, Posterior embryotoxon, Corneal opacity, Short foot, Hypoplasia ... |
ORPHA:96125 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Prominent fingertip pads, Atrial septal defect, Iris hypopigmentation, Ver... |
OMIM:610443 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Idiopathic Congenital Hypothyroidism |
|
Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, Abnormal epiphy... |
ORPHA:95717 |
Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Anophthalmia, Small scrotum, Congenital ... |
ORPHA:261344 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Congenital hip dislocation, Cryptorchidism, Orbital encephalocele, Orbital cyst, Ey... |
OMIM:164180 |
Cockayne Syndrome Type 2 |
|
Anophthalmia, Kyphosis, Cryptorchidism, Flexion contracture, Uveitis, Developmental cataract, Mal... |
ORPHA:90322 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Pericarditis, Microcephaly, Pericardial effusion, Osteoporosis, Chorioretinal a... |
OMIM:619487 |
Ritscher-Schinzel Syndrome 3 |
|
Relative macrocephaly, Hypoplasia of the ulna, Highly arched eyebrow, Postnatal growth retardatio... |
OMIM:619135 |
Microphthalmia With Limb Anomalies |
|
Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig... |
ORPHA:1106 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Short stature, Skel... |
OMIM:616716 |
Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morphology, Cor... |
ORPHA:1328 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Craniosynostosis, Kyp... |
ORPHA:65759 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Inguinal hernia, Vertebral fusion, Elbow contracture, Tarsal synostosis, Cranios... |
OMIM:178110 |
Charge Syndrome |
|
Bifid scrotum, Anophthalmia, Abnormal tibia morphology, Hemivertebrae, Eyelid coloboma, Abnormali... |
ORPHA:138 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Micromelia, Proximal placement of thumb, Partial agenesis of the co... |
OMIM:270400 |
Xeroderma Pigmentosum, Complementation Group F |
|
Short stature, Microcephaly, Flexion contracture, Defective DNA repair after ultraviolet radiatio... |
OMIM:278760 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Immunodeficiency 54 |
|
Chromosome breakage, Short stature, Microcephaly, Postnatal growth retardation, Splenomegaly, Adr... |
OMIM:609981 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange, Short stature, Microcephaly, D... |
OMIM:618097 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Madelung d... |
OMIM:249700 |
Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia, Osteopenia, Failure to thrive, Metaphyseal irregularity |
OMIM:269920 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... |
ORPHA:429 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... |
OMIM:244600 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosi... |
OMIM:607155 |
Fragile X Syndrome |
|
Joint laxity, Macroorchidism, postpubertal, Mitral valve prolapse, Folate-dependent fragile site ... |
OMIM:300624 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Single transverse palmar crease, Abnormal form of the vertebral bodies, Sh... |
OMIM:194190 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Hypotriglyceridemia, Short phalanx o... |
ORPHA:85167 |
Myhre Syndrome |
|
Short neck, Hypoplastic iliac wing, Atrial septal defect, Broad ribs, Vertebral fusion, Short sta... |
OMIM:139210 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... |
OMIM:312150 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... |
OMIM:618167 |
Malaria |
|
Hyperbilirubinemia, Gait imbalance, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... |
ORPHA:137599 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Hemivertebrae, Clitoral hypoplasia, Short palm, Thoracic hemivertebrae, Micropenis, D... |
OMIM:268310 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Lig4 Syndrome |
|
Epicanthus, Abnormality of chromosome stability, Telecanthus, Hypoplasia of penis, Pancytopenia, ... |
ORPHA:99812 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... |
OMIM:600081 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, External genital hypoplasia, Small hand, Obesity, Narrow palm, Sho... |
ORPHA:177910 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability, Pancytopenia, Microcephaly, Postnatal growth retardation, In... |
OMIM:600546 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Rhizomelia, Smal... |
OMIM:616229 |
Roifman Syndrome |
|
Single transverse palmar crease, Irregular vertebral endplates, Clinodactyly of the 5th finger, S... |
OMIM:616651 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th... |
OMIM:250460 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Lateral humeral condyle aplasia, Fibular hypoplasia... |
OMIM:164900 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Decreased circulating plasmalogen concentration, Cataract, Rhizomelia,... |
OMIM:222765 |
Diaphanospondylodysostosis |
|
Narrow pelvis bone, Abnormal vertebral segmentation and fusion, Absent or minimally ossified vert... |
ORPHA:66637 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:611638 |
Roifman Syndrome |
|
Delayed proximal femoral epiphyseal ossification, Clinodactyly of the 5th finger, Bilateral singl... |
ORPHA:353298 |
Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Hemivertebrae, Cardiac fibroma, Iris coloboma, Vertebral fusion, Spina bifida, Cardi... |
OMIM:109400 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Cutaneous finger syndactyly, Hypoalbuminemia, Hypoplastic ilia... |
OMIM:235510 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short... |
OMIM:600325 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
Acrorenal Syndrome |
|
Abnormal tibia morphology, Split hand, Aplasia/Hypoplasia of the radius, Abnormal morphology of ulna |
ORPHA:971 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:620010 |
Ataxia-Telangiectasia |
|
Lymphopenia, Abnormality of chromosome stability, Diabetes mellitus, Short stature, Skeletal musc... |
ORPHA:100 |
Charge Syndrome |
|
Anophthalmia, Abnormal palmar dermatoglyphics, External genital hypoplasia, Decreased response to... |
OMIM:214800 |
Cohen Syndrome |
|
Abnormal eyelid morphology, Neutropenia, Clinodactyly of the 5th finger, Iris coloboma, Finger sy... |
ORPHA:193 |
Fanconi Anemia, Complementation Group F |
|
Atrial septal defect, Sacral dimple, Short stature, Decreased response to growth hormone stimulat... |
OMIM:603467 |
Alg1-Cdg |
|
Kyphosis, Limitation of joint mobility, Abnormal heart morphology, Cardiomyopathy, Hypoalbuminemi... |
ORPHA:79327 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth ... |
ORPHA:254531 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Metaphyseal dysplasia, Short stature, Neonatal insulin-dependent diabetes mellitus,... |
ORPHA:1667 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal shoulder morphology, Abnormality of the vertebra... |
ORPHA:2345 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Knee disloc... |
OMIM:618000 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Anophthalmia, Spina bifida, Cryptorchidism, Hypoplasia of the radius, Hip ... |
ORPHA:3412 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Broad ribs, Iliac crest serration, Rhizomelia, H... |
ORPHA:239 |
Hypomelanosis Of Ito |
|
Syndactyly, Epicanthus, Cataract, Microcephaly, Kyphosis, Macrocephaly, Hand polydactyly, Radial ... |
OMIM:300337 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... |
OMIM:253290 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Mesomelic leg shortening, ... |
OMIM:249710 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Epicanthus, Cataract, Arachnodactyly, Hypospadias, Short stature, Microcephaly,... |
ORPHA:96169 |
Fanconi Anemia, Complementation Group O |
|
Chromosome breakage, Short stature, External genital hypoplasia, Proximal placement of thumb, Abs... |
OMIM:613390 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Hypoplasia of penis, Micromelia, Postaxial hand polydactyly, Split hand, Abnormali... |
ORPHA:2491 |
Mirage Syndrome |
|
Hyponatremia, Hypergonadotropic hypogonadism, Hypospadias, Rocker bottom foot, Cryptorchidism, Ra... |
OMIM:617053 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, 2-3 toe syndactyly, Scoliosis, B... |
ORPHA:313892 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Telecanthus, Failure to thrive in infancy, Highly arched eyebrow, Microcephaly... |
ORPHA:313781 |
Immunodeficiency 27A |
|
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Weight loss, Hepatosplenomegaly, Salm... |
OMIM:209950 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, External genital hypoplasia, Obesity, Polydactyly, Hypogonadism, Macular dystrophy, M... |
OMIM:615983 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Cataract, Failure to thrive in infancy, Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminemi... |
OMIM:618805 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Single transverse palmar crease, Delayed skeletal maturation, Osteopor... |
ORPHA:73272 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Iridodonesis, Epicanthus, Short stature, Tapered finger, Microcephaly, Kyphosis, Hypo... |
ORPHA:2479 |
Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Toe syndactyly, Hypospadias, Severe short stature, Highly arched eye... |
ORPHA:2319 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Short stature, Short neck, Abnormality of the... |
ORPHA:3098 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Short stature, Short 3rd toe, Delayed skeletal maturation, Short 2nd toe, Short 5th finger, Short... |
OMIM:619060 |
Fanconi Anemia, Complementation Group D2 |
|
Aplasia of the 1st metacarpal, Reticulocytopenia, Neutropenia, Micropenis, Agenesis of corpus cal... |
OMIM:227646 |
Temple Syndrome |
|
Relative macrocephaly, Hypertriglyceridemia, Small for gestational age, Hypercholesterolemia, Sho... |
OMIM:616222 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx, Abnormal form of the vertebral bod... |
ORPHA:2839 |
Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Micropenis, Hypogonadotropic hypogonadism, Short stature, Tapered finger, C... |
OMIM:617159 |
Cornelia De Lange Syndrome 2 |
|
Ptosis, Short stature, Proximal placement of thumb, Highly arched eyebrow, Limited elbow movement... |
OMIM:300590 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Abnormal size of the palpebral fissures, Camptodactyly of finger, Corneal dystrophy... |
ORPHA:1101 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Epicanthus, Anophthalmia, Sparse eyelashes, Optic nerve hypoplasia, Postaxial poly... |
OMIM:605627 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Phacoanaphylactic Uveitis |
|
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... |
ORPHA:209959 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Xfe Progeroid Syndrome |
|
Severe short stature, Cachexia, Microcephaly, Optic atrophy, Defective DNA repair after ultraviol... |
OMIM:610965 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... |
OMIM:265000 |
Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
Cockayne Syndrome Type 1 |
|
Cataract, Foot joint contracture, Anophthalmia, Postnatal growth retardation, Cryptorchidism, Opt... |
ORPHA:90321 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Anophthalmia, Congenital diaphragmatic hernia, Osteopathia striata, S... |
OMIM:305600 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Relative macrocephaly, Small for gestational age, Abnormal external genitalia, Delayed closure of... |
ORPHA:231140 |
Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Hypoalbuminemia, Hypocholester... |
ORPHA:14 |
Atelosteogenesis, Type I |
|
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short metaca... |
OMIM:108720 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax... |
ORPHA:93357 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Central heterochromia, Skeletal muscle atrophy, Optic disc hypop... |
ORPHA:233 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Absent th... |
OMIM:600901 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip... |
OMIM:618395 |
Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, Short stature, Microcephaly, Short thumb, T-cell acute lymphoblastic leuk... |
OMIM:605724 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Abnormal eyelid morphology, Congenital diaph... |
ORPHA:2556 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Bowing of the long bones, Increased bone mineral density, Hypospadias, Camptodactyly... |
ORPHA:90652 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Cardiomegaly, Obesity, Congenital hypothyroidism, Hypoalbuminemia |
ORPHA:88643 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal dystrophy, Corneal guttata |
OMIM:613268 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Neonatal short-limb short stature, Severe limb shortening, Radial bowing,... |
OMIM:151210 |
Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Atrial ... |
OMIM:274000 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Unilateral ptosis, Thoracic scoliosis, Bicuspid aortic valve, Short neck, Generalized joint laxit... |
ORPHA:508498 |
Oculoauricular Syndrome |
|
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... |
OMIM:612109 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated circulating creatine kinase concentration, Leukopenia, Micropenis, Agenesis of corpus ca... |
OMIM:301056 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple p... |
OMIM:301014 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Epicanthus, Prominent metopic ridge, Overlapping toe, Small for gestational age, Postaxial polyda... |
OMIM:613792 |
Galloway-Mowat Syndrome 3 |
|
Epicanthus, Arachnodactyly, Short stature, Microcephaly, Hip dislocation, Hypoalbuminemia, Campto... |
OMIM:617729 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Absent th... |
OMIM:227650 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... |
OMIM:613752 |
Terminal Osseous Dysplasia |
|
Syndactyly, Ptosis, Epicanthus, Telecanthus, Camptodactyly of finger, Multiple joint contractures... |
OMIM:300244 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, B... |
OMIM:213980 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Short neck, Short palm, Clinodactyly of the 5th finger, Micropenis, Agenesis of corpus callosum, ... |
OMIM:620073 |
Lamb-Shaffer Syndrome |
|
Epicanthus, Mild postnatal growth retardation, Microcephaly, Decreased head circumference, Optic ... |
ORPHA:530983 |
Wiedemann-Steiner Syndrome |
|
Accelerated skeletal maturation, Synophrys, Clinodactyly of the 5th finger, Atrial septal defect,... |
OMIM:605130 |
Chromosome 16Q22 Deletion Syndrome |
|
Epicanthus, Prominent metopic ridge, Broad hallux, Small for gestational age, Highly arched eyebr... |
OMIM:614541 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... |
OMIM:309620 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Short neck, Flexion contracture, Leukopenia, Conjunctivitis, Thoracic kyphosis, Hypoalbuminemia, ... |
ORPHA:505248 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Familial Thyroid Dyshormonogenesis |
|
Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, Abnormal epiphy... |
ORPHA:95716 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hypopla... |
OMIM:615524 |
Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... |
OMIM:305620 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Hypospadias, Postaxial polydactyly, Hyperlordosis, Kyphosis, Synophrys... |
OMIM:615761 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Femoral-Facial Syndrome |
|
Short femur, Short stature, Maternal diabetes, Cryptorchidism, Abnormal sacrum morphology, Long p... |
ORPHA:1988 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla... |
ORPHA:1856 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Crumpled long bones, Retinal detachment, Corneal opacity, Short stature... |
ORPHA:2788 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Alagille Syndrome |
|
Keratoconus, Hypoplasia of the ulna, Atrial septal defect, Ventricular septal defect, Corneal dys... |
ORPHA:52 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... |
OMIM:241530 |
Three M Syndrome 1 |
|
Joint dislocation, Short neck, Increased vertebral height, Clinodactyly of the 5th finger, Spina ... |
OMIM:273750 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Short stature, Elevated circulating C-reactive protein concentration, Increased cir... |
OMIM:616050 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Epicanthus, Short stature, Osteolysis involving bones of the upper limbs, Flexion con... |
ORPHA:88630 |
Temple Syndrome |
|
Relative macrocephaly, Small for gestational age, Short stature, Decreased response to growth hor... |
ORPHA:254516 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Joint dislocation, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Bone pai... |
ORPHA:93160 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Hy... |
OMIM:264700 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Cryptorchidism, ... |
ORPHA:1307 |
Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial se... |
OMIM:607323 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Short neck, Vertebral segmentati... |
OMIM:611209 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Isolated Polycystic Liver Disease |
|
Back pain, Increased total bilirubin |
ORPHA:2924 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Prader-Willi Syndrome |
|
Osteopenia, Decreased muscle mass, Small scrotum, External genital hypoplasia, Decreased response... |
OMIM:176270 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... |
OMIM:609616 |
Shox-Related Short Stature |
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Short neck, Madelung deformity, Obesity, Tibial bowing, Short foot, Genu valgum, Forearm undergro... |
ORPHA:314795 |
Desbuquois Dysplasia 2 |
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Single transverse palmar crease, Short neck, Metaphyseal widening, Synophrys, Knee dislocation, S... |
OMIM:615777 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
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Back pain, Increased total bilirubin |
OMIM:174050 |
Reni Syndrome |
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Hypertriglyceridemia, Hypoglycemia, Microcephaly, Cryptorchidism, Hypoalbuminemia, Hypogonadism, ... |
OMIM:617575 |
Bloom Syndrome |
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Chromosome breakage, Abnormality of chromosome stability, Syndactyly, Small for gestational age, ... |
OMIM:210900 |
Baraitser-Winter Syndrome 1 |
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Epicanthus, Short stature, Bicuspid aortic valve, Highly arched eyebrow, Short neck, Microcephaly... |
OMIM:243310 |
Mucopolysaccharidosis, Type Vii |
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Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Narrow greater ... |
OMIM:253220 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
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Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive |
OMIM:600121 |
2Q31.1 Microdeletion Syndrome |
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Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clinodactyly of... |
ORPHA:251014 |
Bardet-Biedl Syndrome 11 |
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Hypogonadism, Retinopathy, Polydactyly, Obesity |
OMIM:615988 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Occipital encephalocele, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Cataract, Optic ner... |
ORPHA:370959 |
Congenital Disorder Of Glycosylation, Type Ia |
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Osteopenia, Pericarditis, Hypergonadotropic hypogonadism, Microcephaly, Almond-shaped palpebral f... |
OMIM:212065 |
Dubin-Johnson Syndrome |
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Conjugated hyperbilirubinemia |
OMIM:237500 |
3C Syndrome |
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Hypoplasia of penis, Adrenal hypoplasia, Short neck, Hemivertebrae, Abnormal tricuspid valve morp... |
ORPHA:7 |
Crigler-Najjar Syndrome, Type I |
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Unconjugated hyperbilirubinemia |
OMIM:218800 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
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Microphthalmia, Anophthalmia, Ankyloblepharon |
ORPHA:85275 |
Omodysplasia 2 |
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Short humerus, Hypospadias, Cryptorchidism, Anterior wedging of T11, Uterus didelphys, Fibular hy... |
OMIM:164745 |
Kniest Dysplasia |
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Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varu... |
OMIM:156550 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Delayed closure of the anterior fontanelle, Hyperbilirubinemia, Decreased body weight, Abnormalit... |
OMIM:614886 |
Cutis Laxa, Autosomal Recessive, Type Iie |
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Joint laxity, Syndactyly, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Highly arc... |
OMIM:619451 |
Isolated Osteopoikilosis |
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Bone pain, Abnormal femur morphology, Abnormal long bone morphology, Abnormal bone ossification, ... |
ORPHA:166119 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Hypospadias, Short stature, Hyperlordosis, Short neck, Kyphosis, Microcephaly, Abnormal rib morph... |
ORPHA:2522 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
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Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Narrow greater sciatic notch, Hyp... |
OMIM:608940 |
Multiple Epiphyseal Dysplasia Type 5 |
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Back pain, Abnormal upper limb epiphysis morphology, Delayed proximal femoral epiphyseal ossifica... |
ORPHA:93311 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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Bicuspid aortic valve, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossi... |
OMIM:271640 |
Atelosteogenesis, Type Iii |
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Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Short nec... |
OMIM:108721 |
Meckel Syndrome |
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Anophthalmia, Sclerocornea, Asplenia, Microcornea, Encephalocele, Accessory spleen, Abnormal chor... |
ORPHA:564 |
Slc35A2-Cdg |
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Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Abnormal long bone mo... |
ORPHA:356961 |
Kbg Syndrome |
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Single transverse palmar crease, Short neck, Epispadias, Synophrys, Thoracic kyphosis, Short palm... |
OMIM:148050 |
Bartsocas-Papas Syndrome 1 |
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Cicatricial lagophthalmos, Short neck, Bilateral cryptorchidism, Flexion contracture, Ankylobleph... |
OMIM:263650 |
Fanconi Anemia, Complementation Group J |
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Postnatal growth retardation, Short thumb, Microphthalmia, Chromosomal breakage induced by crossl... |
OMIM:609054 |
Insulin-Resistance Syndrome Type B |
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Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Leukopenia,... |
ORPHA:2298 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... |
OMIM:143095 |
Rere-Related Neurodevelopmental Syndrome |
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Epicanthus, Hypospadias, Ventricular septal defect, Postnatal growth retardation, Cryptorchidism,... |
ORPHA:494344 |
Osebold-Remondini Syndrome |
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Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Codas Syndrome |
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Ptosis, Short metacarpal, Congenital hip dislocation, Epicanthus, Cataract, Short stature, Ventri... |
ORPHA:1458 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... |
OMIM:307800 |
Fuchs Heterochromic Iridocyclitis |
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Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... |
ORPHA:263479 |
Seckel Syndrome 4 |
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11 pairs of ribs, Severe short stature, Microcephaly, Steep acetabular roof, Decreased body weigh... |
OMIM:613676 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Rhizomelic Dysplasia, Ain-Naz Type |
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Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
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Osteopenia, Arthropathy, Bicuspid aortic valve, Premature thelarche, Abnormal hand morphology, Os... |
ORPHA:371428 |
Aicardi Syndrome |
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Proximal placement of thumb, Chorioretinal lacunae, Partial agenesis of the corpus callosum, Hemi... |
OMIM:304050 |
Vitamin D-Dependent Rickets, Type 2A |
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Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Hy... |
OMIM:277440 |
Shashi-Pena Syndrome |
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Atrial septal defect, Short metacarpal, Epicanthus, Hypoglycemia, Highly arched eyebrow, Accelera... |
OMIM:617190 |
Hepatic Veno-Occlusive Disease |
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Increased body weight, Increased total bilirubin |
ORPHA:890 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Overriding aorta, ... |
OMIM:617021 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
19P13.3 Microduplication Syndrome |
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Epicanthus, Telecanthus, Unilateral cryptorchidism, Ventricular septal defect, Kyphoscoliosis, Mi... |
ORPHA:447980 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
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Short neck, Elevated 8(9)-cholestenol, Hemivertebrae, Rhizomelia, Sparse eyebrow, Epiphyseal stip... |
OMIM:302960 |
Hijazi-Reis Syndrome |
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Ankle clonus, Gait disturbance, Hyperbilirubinemia |
OMIM:301094 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Telecanthus, Anophthalmia, Synophrys, Long eyelashes, Thick eyebrow |
ORPHA:411986 |
Frontometaphyseal Dysplasia |
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Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
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Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Micr... |
OMIM:619055 |
Weill-Marchesani Syndrome 2 |
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Broad skull, Short metatarsal, Shallow orbits, Broad ribs, Broad metacarpals, Short metacarpal, L... |
OMIM:608328 |
Weill-Marchesani Syndrome 4 |
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Iridodonesis, Short stature, Ectopia lentis, Joint stiffness, Shallow anterior chamber, Posterior... |
OMIM:613195 |
Spondylocostal Dysostosis 5 |
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Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae |
OMIM:122600 |
Congenital Disorder Of Glycosylation, Type Ig |
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Small scrotum, Hypocalcemia, Short tibia, Micropenis, Patent foramen ovale, Rhizomelia, Hypospadi... |
OMIM:607143 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
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Keratoconus, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... |
OMIM:242150 |
Dyggve-Melchior-Clausen Disease |
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Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:223800 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
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Short metacarpal, Broad long bones, Telecanthus, Severe short stature, Micromelia, Microcephaly, ... |
ORPHA:1422 |
Smith-Magenis Syndrome |
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Retinal detachment, Toe syndactyly, Failure to thrive in infancy, Hypertriglyceridemia, Short sta... |
ORPHA:819 |
Poland Syndrome |
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Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... |
ORPHA:2911 |
Otospondylomegaepiphyseal Dysplasia |
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Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor... |
ORPHA:1427 |
Bardet-Biedl Syndrome 10 |
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Retinal dystrophy, Obesity, Hypogonadism, Polydactyly, Rod-cone dystrophy |
OMIM:615987 |
Fanconi Anemia, Complementation Group R |
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Absent thumb, Microcephaly, Chromosomal breakage induced by crosslinking agents, Growth delay, An... |
OMIM:617244 |
Diarrhea 13 |
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Recurrent hypoglycemia, Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
Codas Syndrome |
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Congenital hip dislocation, Proximal placement of thumb, Broad skull, Generalized joint laxity, A... |
OMIM:600373 |
Bardet-Biedl Syndrome 13 |
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Bone spicule pigmentation of the retina, Obesity, Polydactyly, Rod-cone dystrophy, Attenuation of... |
OMIM:615990 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
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Skeletal muscle atrophy, Decreased body weight, Decreased serum iron, Corneal erosion, Flexion co... |
ORPHA:89842 |
Seckel Syndrome 1 |
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Abnormal finger flexion crease, Single transverse palmar crease, Abnormally large globe, Clinodac... |
OMIM:210600 |
Branchiooculofacial Syndrome |
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Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Short neck, Clinodact... |
OMIM:113620 |
Achondroplasia |
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Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... |
OMIM:100800 |
Marshall Syndrome |
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Retinal detachment, Epicanthus, Radial bowing, Cataract, Short stature, Coxa valga, Hypoplastic i... |
OMIM:154780 |
14Q22Q23 Microdeletion Syndrome |
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Anophthalmia, Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplasia, Short palm, Clino... |
ORPHA:264200 |
Oculodentodigital Dysplasia |
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Abnormal form of the vertebral bodies, Microcornea, Clinodactyly of the 5th finger, Finger syndac... |
ORPHA:2710 |
Silver-Russell Syndrome |
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Decreased muscle mass, Abnormal appendicular skeleton morphology, Recurrent hypoglycemia, Clinoda... |
ORPHA:813 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
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Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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Joint laxity, Iris atrophy, Cataract, Broad hallux, Arachnodactyly, Ectopia lentis, Microphthalmi... |
OMIM:601552 |
Bardet-Biedl Syndrome 16 |
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Short stature, External genital hypoplasia, Obesity, Hypogonadism, Polydactyly, Rod-cone dystroph... |
OMIM:615993 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
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Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Sh... |
OMIM:602471 |
19P13.12 Microdeletion Syndrome |
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Short neck, Synophrys, Short palm, Clinodactyly of the 5th finger, Atrial septal defect, Hypothyr... |
ORPHA:254346 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Mild postnatal growth retardation, Accelerated skeletal maturation, Neonatal epiphyseal stippling... |
OMIM:101800 |
Martsolf Syndrome 1 |
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Thoracic scoliosis, Osteopathia striata, Finger joint hypermobility, Short palm, Micropenis, Shor... |
OMIM:212720 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Hyponatremia, Penoscrotal hypospadias, Hypospadias, Female external genitalia in individual with ... |
ORPHA:90791 |
Immunodeficiency 43 |
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Hypoplasia of the ulna, Radial bowing, Lung abscess, Decreased circulating beta-2-microglobulin l... |
OMIM:241600 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
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Short stature, Thoracolumbar scoliosis, Short neck, Microcephaly, Flexion contracture, Cardiomyop... |
OMIM:616549 |
Cerebrooculonasal Syndrome |
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Epicanthus, Anophthalmia, Sparse eyelashes, Hypoplasia of penis, Sparse eyebrow, Postaxial hand p... |
ORPHA:66625 |
Fanconi Anemia, Complementation Group L |
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Chromosome breakage, Hypoplastic sacrum, Absent thumb, Absent radius, Short neck, Upslanted palpe... |
OMIM:614083 |
Analbuminemia |
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Patent ductus arteriosus, Osteoporosis, Elevated circulating transferrin concentration, Increased... |
OMIM:616000 |
Otopalatodigital Syndrome, Type Ii |
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Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... |
OMIM:304120 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
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Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Marden-Walker Syndrome |
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Decreased muscle mass, Short neck, Congenital contracture, Micropenis, Agenesis of corpus callosu... |
OMIM:248700 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
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Short stature, Cervical C2/C3 vertebral fusion, Microcephaly, Growth delay, Talipes equinovarus, ... |
OMIM:617333 |
Nevus Comedonicus Syndrome |
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Finger syndactyly, Toe syndactyly, Cataract, Spina bifida, Microcephaly, Preaxial polydactyly, Sc... |
ORPHA:64754 |
Kaposiform Lymphangiomatosis |
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Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,... |
ORPHA:464329 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Bifid scrotum, Fused labia majora, Small scrotum, Hemivertebrae, Femoral bowing, Micropenis, Decr... |
OMIM:201750 |
Aicardi Syndrome |
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Retinal detachment, Abnormality of retinal pigmentation, Block vertebrae, Missing ribs, Microceph... |
ORPHA:50 |
Osteogenesis Imperfecta, Type Xii |
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