Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Platyspondyly, Hyposegmentation of neutrophil nuclei, Broad hallux, Genu valgum, ... |
OMIM:618019 |
Congenital Radioulnar Synostosis |
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Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
Multiple Epiphyseal Dysplasia, Beighton Type |
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Retinal thinning, Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Knee pain, Cata... |
ORPHA:166011 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Sparse eyebrow, Femoral bowing, Platyspondyly, Short neck, Micromelia, 11 pairs of ribs, Single t... |
OMIM:210710 |
Symbrachydactyly Of Hands And Feet |
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Vertebral segmentation defect, Abnormality of the humeroulnar joint, Abnormal morphology of ulna,... |
ORPHA:1570 |
Spondylocarpotarsal Synostosis Syndrome |
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Scapular winging, Short neck, Disproportionate short-trunk short stature, Cataract, Block vertebr... |
OMIM:272460 |
Kyphomelic Dysplasia |
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Tibial bowing, Radial bowing, Talipes equinovarus, Short metacarpal, Short femur, Undulate ribs, ... |
OMIM:211350 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... |
ORPHA:174 |
Metaphyseal Anadysplasia |
|
Joint stiffness, Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypop... |
ORPHA:1040 |
Spondylometaphyseal Dysplasia, Algerian Type |
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Coxa vara, Kyphoscoliosis, Lumbar hyperlordosis, Hypoplasia of proximal radius, Metaphyseal dyspl... |
OMIM:184253 |
Boomerang Dysplasia |
|
Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Abnorma... |
ORPHA:1263 |
Trisomy 13 |
|
Optic atrophy, Ventricular septal defect, Cataract, Microphthalmia, Intrauterine growth retardati... |
ORPHA:3378 |
Brachydactyly, Type B1 |
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Joint contracture of the hand, Hypoplastic sacrum, Micropenis, Hemivertebrae, Delayed cranial sut... |
OMIM:113000 |
Ulnar Hemimelia |
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Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
Heart-Hand Syndrome Type 2 |
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Joint stiffness, Abnormal morphology of ulna, Abnormality of the humerus, Micromelia, Brachydacty... |
ORPHA:1350 |
2Q24 Microdeletion Syndrome |
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Bullet-shaped distal phalanx of the hallux, Failure to thrive, Microphthalmia, Small for gestatio... |
ORPHA:1617 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
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Clinodactyly of the 5th finger, Thick eyebrow, Short stature, Microcephaly, Scoliosis, Radioulnar... |
ORPHA:3268 |
Dysspondyloenchondromatosis |
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Vertebral segmentation defect, Enlarged joints, Kyphoscoliosis, Joint dislocation, Generalized jo... |
ORPHA:85198 |
Weismann-Netter Syndrome |
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Kyphosis, Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal h... |
ORPHA:3344 |
Al-Gazali Syndrome |
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Recurrent fractures, Corneal opacity, Failure to thrive, Bilateral talipes equinovarus, Proximal ... |
OMIM:609465 |
Robin Sequence-Oligodactyly Syndrome |
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Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Abnormal form of ... |
ORPHA:3104 |
Pseudoachondroplasia |
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Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
Fanconi Anemia, Complementation Group I |
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Absent thumb, Hypoplasia of the radius, Short 1st metacarpal, Short neck, Ventricular septal defe... |
OMIM:609053 |
Mesomelic Dysplasia, Nievergelt Type |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... |
ORPHA:2633 |
Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
Léri-Weill Dyschondrosteosis |
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Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Fibular Hemimelia |
|
Craniosynostosis, Arthralgia of the hip, Thrombocytopenia, Abnormality of fibula morphology, Genu... |
ORPHA:93323 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
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Intrauterine growth retardation, Corneal opacity, Clinodactyly of the 5th finger, Abnormal cardia... |
ORPHA:2370 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... |
OMIM:127300 |
Cartilage-Hair Hypoplasia |
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Abnormal cardiac septum morphology, Accelerated skeletal maturation, Sparse eyebrow, Abnormally o... |
ORPHA:175 |
Kniest Dysplasia |
|
Enlarged joints, Flexion contracture of finger, Macrocephaly, Short neck, Platyspondyly, Dispropo... |
ORPHA:485 |
Ulna Metaphyseal Dysplasia Syndrome |
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Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormal form of the vertebral bodies,... |
ORPHA:1837 |
Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... |
ORPHA:90650 |
Galloway-Mowat Syndrome 6 |
|
Decreased body weight, Clinodactyly of the 5th finger, Decreased response to growth hormone stimu... |
OMIM:618347 |
Atelosteogenesis, Type Ii |
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Lumbar hyperlordosis, Talipes equinovarus, Increased intervertebral space, Bifid humerus, Horizon... |
OMIM:256050 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
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Joint stiffness, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the ... |
ORPHA:1275 |
Mucopolysaccharidosis-Plus Syndrome |
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Short neck, Optic atrophy, Long eyelashes, Flexion contracture, Flared iliac wing, Splenomegaly, ... |
OMIM:617303 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
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Abnormal morphology of ulna, Short neck, Abnormal metacarpal morphology, Hypogonadism, Obesity, A... |
ORPHA:2233 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Short metacarpal, Accelerated skeletal maturation, Arthralgia of the hip, Abnormal hand morpholog... |
ORPHA:93307 |
Langer Mesomelic Dysplasia |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... |
ORPHA:2632 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
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Abnormal cardiac septum morphology, Abnormal hip bone morphology, Upper limb phocomelia, Small fo... |
ORPHA:294975 |
Alg6-Cdg |
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Failure to thrive, Retinal degeneration, Shortening of all distal phalanges of the fingers, Rod-c... |
ORPHA:79320 |
Femur-Fibula-Ulna Complex |
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Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Abnormal... |
ORPHA:2019 |
Chondroectodermal Dysplasia With Night Blindness |
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Epiphyseal dysplasia, Metaphyseal irregularity, Congenital stationary night blindness, Metaphysea... |
ORPHA:319195 |
Fanconi Anemia |
|
Abnormality of femur morphology, Abnormal cardiac septum morphology, Absent testis, Abnormality o... |
ORPHA:84 |
Ophthalmomandibulomelic Dysplasia |
|
Corneal opacity, Lateral humeral condyle aplasia, Camptodactyly of finger, Megalocornea, Synostos... |
ORPHA:2741 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Corner fracture of metaphysis, Platyspondyly, Short neck, Biconcave vertebral bodies, Upper limb ... |
ORPHA:93315 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... |
ORPHA:370010 |
Microphthalmia With Limb Anomalies |
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Growth delay, Tibial bowing, Talipes equinovarus, Postnatal growth retardation, Hand oligodactyly... |
OMIM:206920 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Short stature, Arachnodactyly, Microcephaly, Hepatosplenomegaly, Scoliosis, Hypothyroidism, Hyper... |
OMIM:619013 |
Alg12-Cdg |
|
Muscular ventricular septal defect, B lymphocytopenia, Sandal gap, Intrauterine growth retardatio... |
ORPHA:79324 |
Walker-Warburg Syndrome |
|
Macrocephaly, Microcornea, Retinal dystrophy, Optic atrophy, Abnormal circulating creatine kinase... |
ORPHA:899 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia, Failure to thrive, Accelerated skeletal maturation |
OMIM:129850 |
Congenital Disorder Of Glycosylation, Type Ih |
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Failure to thrive, Talipes equinovarus, Cryptorchidism, Short neck, Neonatal death, Camptodactyly... |
OMIM:608104 |
Posterior Polymorphous Corneal Dystrophy |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... |
ORPHA:98973 |
Microphthalmia With Brain And Digit Anomalies |
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Finger syndactyly, Microcephaly, Abnormality of the hypothalamus-pituitary axis, Anophthalmia, Mi... |
ORPHA:139471 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Anophthalmia, Dextrocardia, Microphthalmia, Supernumerary ribs, Ve... |
OMIM:221950 |
Fanconi Anemia, Complementation Group C |
|
Absent thumb, Hypergonadotropic hypogonadism, Ventricular septal defect, Complete duplication of ... |
OMIM:227645 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Tip-toe gait, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordo... |
OMIM:606612 |
Acrodysostosis |
|
Spinal canal stenosis, Short toe, Abnormal morphology of ulna, Accelerated skeletal maturation, H... |
ORPHA:950 |
Xeroderma Pigmentosum, Complementation Group G |
|
Small for gestational age, Microcephaly, Cataract, Microphthalmia, Growth delay, Defective DNA re... |
OMIM:278780 |
Kbg Syndrome |
|
Thick eyebrow, Short stature, Vertebral fusion, Cutaneous syndactyly, Short neck, Scoliosis, Fing... |
ORPHA:2332 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... |
ORPHA:2639 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Mesomelic arm shortening, Short humer... |
OMIM:171480 |
Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Talipes equinovarus, Brachydactyly, Finger symphalangism, Proximal symphalangi... |
OMIM:610017 |
Mucolipidosis Ii Alpha/Beta |
|
Sparse eyebrow, Craniosynostosis, Osteopenia, Megalocornea, Bullet-shaped phalanges of the hand, ... |
OMIM:252500 |
Aarskog-Scott Syndrome |
|
Clinodactyly of the 5th finger, Genu recurvatum, Inguinal hernia, Abnormal vertebral segmentation... |
ORPHA:915 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Trident pelvis, Disproportionate short-limb short stature, Flexion contracture, Small pituitary g... |
OMIM:619479 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Difficulty walking, Premature osteoarthrit... |
ORPHA:93314 |
Microphthalmia, Syndromic 3 |
|
Hypothalamic hamartoma, Hemivertebrae, Ventricular septal defect, Cataract, Microphthalmia, Rib f... |
OMIM:206900 |
Holoprosencephaly |
|
Macrocephaly, Short neck, Optic atrophy, Ventricular septal defect, Microphthalmia, Encephalocele... |
ORPHA:2162 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Irregular vertebral endplates, Hip contracture, Kyphoscoliosis, Advanced ossification of carpal b... |
OMIM:618363 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Small hand, Scoliosis, Syndactyly, Narrow palm, Gait disturbance, Clino... |
ORPHA:1445 |
Fanconi Anemia, Complementation Group S |
|
Failure to thrive, Ovarian neoplasm, Chromosome breakage, Short stature, Upslanted palpebral fiss... |
OMIM:617883 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia, Microcephaly, Abnormal thumb morphology, Neutropenia, Growth delay, Anemia, Throm... |
OMIM:614082 |
Solitary Bone Cyst |
|
Lytic defects of the radius, Muscular edema, Back pain, Abnormal humeral diaphysis morphology, Ab... |
ORPHA:83468 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Disproport... |
OMIM:609052 |
Anophthalmia Plus Syndrome |
|
Vertebral segmentation defect, Anophthalmia, Deviation of finger, Iris coloboma, Eyelid coloboma,... |
ORPHA:1104 |
Axial Spondylometaphyseal Dysplasia |
|
Mild postnatal growth retardation, Osteopenia, Platyspondyly, Retinal dystrophy, Upper limb under... |
ORPHA:168549 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hemivertebrae, Hypospadias, 11 pairs of ribs, Anophthalmia, Ventricular sept... |
ORPHA:77298 |
Hypercholanemia, Familial, 2 |
|
Osteopenia, Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Kyphosis, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Hemivertebrae, Scoliosis,... |
ORPHA:2916 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Abnormal form of the vertebral b... |
ORPHA:2831 |
Idiopathic Congenital Hypothyroidism |
|
Delayed proximal femoral epiphyseal ossification, Delayed cranial suture closure, Abnormal epiphy... |
ORPHA:95717 |
Meckel Syndrome, Type 8 |
|
Talipes equinovarus, Microcephaly, Short neck, Anophthalmia, Polydactyly, Postaxial hand polydact... |
OMIM:613885 |
Galloway-Mowat Syndrome 1 |
|
Intrauterine growth retardation, Talipes equinovarus, Joint contracture of the hand, Slender fing... |
OMIM:251300 |
Carpenter Syndrome 1 |
|
External genital hypoplasia, Aplasia/Hypoplasia of the middle phalanges of the toes, Short neck, ... |
OMIM:201000 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
Acromesomelic Dysplasia 4 |
|
Broad phalanx, Accelerated skeletal maturation, Platyspondyly, Broad finger, Genu valgum, Rhizome... |
OMIM:619636 |
Bilateral Acute Depigmentation Of The Iris |
|
Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... |
ORPHA:69736 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
2-3 toe syndactyly, Macrocephaly, Cryptophthalmos, Precocious puberty, Ectopia pupillae, Hypospad... |
OMIM:615877 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, Block verteb... |
OMIM:277300 |
Acro-Renal-Ocular Syndrome |
|
Radial club hand, Microcornea, Optic disc coloboma, Hypoplasia of the ulna, Cataract, Sandal gap,... |
ORPHA:959 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... |
OMIM:122000 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Dysostosis Multiplex, Ain-Naz Type |
|
Severe short stature, Hemivertebrae, Scoliosis, Wide humerus, Glenoid fossa hypoplasia, Elongated... |
OMIM:619345 |
Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal sclerosis, Femoral bowing, Platyspondyly, Distal tibial bowing, Irregular acetabular ... |
OMIM:156500 |
Microphthalmia, Syndromic 2 |
|
Contracture of the proximal interphalangeal joint of the 3rd toe, Microcornea, Radioulnar synosto... |
OMIM:300166 |
Ring Chromosome 4 Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormality of the upp... |
ORPHA:1447 |
Trichothiodystrophy |
|
Multiple joint contractures, Retinal degeneration, Macular degeneration, Craniosynostosis, Osteop... |
ORPHA:33364 |
Gorlin Syndrome |
|
Arachnodactyly, Hemivertebrae, Vertebral fusion, Hypogonadotropic hypogonadism, Scoliosis, Brachy... |
ORPHA:377 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral segmentation defect, Talipes equinovarus, Vertebral fusion, Short long bone, Sacral dimple |
OMIM:618845 |
Ritscher-Schinzel Syndrome 3 |
|
Wide anterior fontanel, Relative macrocephaly, Shortening of all distal phalanges of the fingers,... |
OMIM:619135 |
Fibrous Dysplasia Of Bone |
|
Abnormality of femur morphology, Ovarian cyst, Abnormality of the humerus, Thin bony cortex, Abno... |
ORPHA:249 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma |
OMIM:616428 |
Distal Monosomy 6P |
|
Vertebral segmentation defect, Corneal opacity, Clinodactyly of the 5th finger, Talipes equinovar... |
ORPHA:96125 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Antecubital pterygium, Talipes equinovarus, Flexion contracture, Fused thoracic vertebrae, Short ... |
OMIM:618469 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Posterior fusion of lumbosacral vertebrae, Joint stiffness, Abnormal form of the vertebral bodies... |
ORPHA:2064 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Microphthalmia, Orbital cyst, Congenital hip dislocation, Anophthalmia, Ey... |
OMIM:164180 |
Fragile X Syndrome |
|
Macrocephaly, Poor eye contact, Folate-dependent fragile site at Xq28, Metacarpophalangeal joint ... |
OMIM:300624 |
Cockayne Syndrome Type 2 |
|
Kyphosis, Intrauterine growth retardation, Flexion contracture, Limb hypertonia, Scoliosis, Anoph... |
ORPHA:90322 |
Trisomy 1Q |
|
Macrocephaly, Congenital diaphragmatic hernia, Small scrotum, Arachnodactyly, Camptodactyly of fi... |
ORPHA:261344 |
Carpenter Syndrome |
|
Abnormal cornea morphology, Kyphoscoliosis, Talipes equinovarus, External genital hypoplasia, Cra... |
ORPHA:65759 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal irregularity, Coxa vara, Thoracic scoliosis, Talipes equinovarus, Metaphyseal cupping... |
OMIM:616716 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Disproportionate short-limb short stature, Short femur, Hypoplasia of the radius, Short tibia, Ab... |
OMIM:601376 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Platyspondyly, Ulnar deviation of finger, Abnormal epiphysis morphology, Abnormal metaphysis morp... |
ORPHA:93359 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Optically empty vitreous, Cataract, Snowflake vitreoretinal degeneration, Cor... |
OMIM:193230 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Spinal canal stenosis, Kyphoscoliosis, Hypoplastic vertebral bodies, Clinodactyly of the 5th fing... |
OMIM:263540 |
Mucolipidosis Type Iii |
|
Joint stiffness, Corneal opacity, Large iliac wing, Reduced bone mineral density, Abnormal hip bo... |
ORPHA:577 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb... |
ORPHA:3320 |
Smith-Lemli-Opitz Syndrome |
|
Micromelia, Hammertoe, Ventricular septal defect, Ambiguous genitalia, Hip subluxation, Cataract,... |
OMIM:270400 |
Verheij Syndrome |
|
Hemivertebrae, Short neck, Scoliosis, Short 5th finger, Clinodactyly, Hip dislocation, Vertebral ... |
OMIM:615583 |
Charge Syndrome |
|
Abnormal cardiac septum morphology, Labial hypoplasia, Hemivertebrae, Optic atrophy, Microphthalm... |
ORPHA:138 |
Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Micropenis, Anemia, Chorioretinal atrophy, Microcephaly, Hepatosplenomegaly, S... |
OMIM:619487 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Failure to thrive, Metaphyseal irregularity, Hypophosphatemia, Tibial bowing, Delayed epiphyseal ... |
OMIM:600081 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Cervical C2/C3 vertebral fusion, Broad metacarpals, Joint stiffness, Interphalangeal joint contra... |
OMIM:151200 |
Hypochondroplasia |
|
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Macrocephaly, Childhood onset ... |
ORPHA:429 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... |
OMIM:613270 |
Camurati-Engelmann Disease |
|
Abnormality of femur morphology, Ataxia, Abnormality of the humerus, Genu valgum, Hypogonadism, A... |
ORPHA:1328 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Short clavicles, Congenital diaphragmatic hernia, Absent thumb, Bilateral talipes equinovarus, Hy... |
OMIM:618022 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... |
OMIM:136800 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Kyphosis, Short stature, Hypogonadotropic hypogonadism, Camptodactyly of finger, Scoliosis, Micro... |
ORPHA:48431 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Bone spic... |
ORPHA:364055 |
Fanconi Anemia, Complementation Group B |
|
Absent thumb, Micropenis, Hypergonadotropic hypogonadism, Short neck, Aplastic anemia, Ventricula... |
OMIM:300514 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... |
ORPHA:2779 |
Fibrodysplasia Ossificans Progressiva |
|
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Short 1st metacarpal, Meta... |
OMIM:135100 |
Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Osteopenia, Conjugated hyperbilirubinemia, Metaphyseal irregularity |
OMIM:269920 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Irregular vertebral endplates, Failure to thrive, Flexion contracture, Osteopenia, Microcephaly, ... |
OMIM:222765 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Ventricular septal defect, Pericardial lymphangiectasia, Umbil... |
OMIM:235510 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... |
OMIM:178110 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Megalocornea, Opacification of the co... |
OMIM:164900 |
Keratoconus Posticus Circumscriptus |
|
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Brachydac... |
OMIM:244600 |
Koolen-De Vries Syndrome |
|
Slender finger, Prominent fingertip pads, Narrow palm, Ventricular septal defect, Cataract, Intra... |
OMIM:610443 |
Microphthalmia With Limb Anomalies |
|
True anophthalmia, Abnormality of the upper limb, Optic atrophy, Sandal gap, Bowing of the long b... |
ORPHA:1106 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Broad ulna, Short tibia, Rudimenta... |
OMIM:249700 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Lens subluxation, Platyspondyly, Retinal thinning, Rhizomelia, Abnormal epiphysis morphology, Ovo... |
ORPHA:85167 |
Myhre Syndrome |
|
Macrocephaly, Cone-shaped epiphysis, Platyspondyly, Short neck, Birth length less than 3rd percen... |
OMIM:139210 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Short neck, Duplication of the dista... |
OMIM:268310 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Kyphosis, Tip-toe gait, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordo... |
OMIM:607155 |
Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Corneal perforation, Corneal stromal edema, Descemet Membrane Folds, Herpetiform corne... |
ORPHA:137599 |
Malaria |
|
Gait imbalance, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia |
ORPHA:673 |
Fuchs Endothelial Corneal Dystrophy |
|
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... |
ORPHA:98974 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Poor eye contact, Postnatal growth retardation, Maturity-onset diabetes of th... |
ORPHA:254531 |
Wolf-Hirschhorn Syndrome |
|
Radioulnar synostosis, Single transverse palmar crease, Ventricular septal defect, Delayed skelet... |
OMIM:194190 |
Multiple Pterygium Syndrome, X-Linked |
|
Amyoplasia, Multiple pterygia, Joint dislocation, Hypoplastic heart, Flexion contracture, Thin ri... |
OMIM:312150 |
Roifman Syndrome |
|
Delayed proximal femoral epiphyseal ossification, Prominent eyelashes, Retinal dystrophy, Intraut... |
ORPHA:353298 |
Peters Anomaly |
|
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... |
ORPHA:708 |
Aminopterin Syndrome Sine Aminopterin |
|
Decreased body weight, Thoracic scoliosis, Joint contracture of the hand, Macrocephaly, Short sta... |
OMIM:600325 |
Omodysplasia 2 |
|
Dislocated radial head, Micropenis, Hypospadias, Short 1st metacarpal, Short humerus, Rhizomelic ... |
OMIM:164745 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... |
ORPHA:293603 |
Mirage Syndrome |
|
Decreased body weight, Talipes equinovarus, Hypergonadotropic hypogonadism, Hypospadias, Radial c... |
OMIM:617053 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Short neck, Downslanted palpebral fissures, Rhizomelia, Intrauterine growth retardati... |
OMIM:611209 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorioretinal coloboma |
OMIM:611638 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna |
ORPHA:1118 |
Acrorenal Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormal morphology of ulna, Abnormality of tibia m... |
ORPHA:971 |
Osteogenesis Imperfecta, Type Xvi |
|
Recurrent fractures, Small for gestational age, Multiple rib fractures, Osteopenia, Decreased cal... |
OMIM:616229 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyp... |
OMIM:619868 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturation, Craniosynost... |
OMIM:250215 |
Roifman Syndrome |
|
Prominent eyelashes, Retinal dystrophy, Single transverse palmar crease, Downslanted palpebral fi... |
OMIM:616651 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Abnormal sacr... |
ORPHA:1436 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:620010 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
External genital hypoplasia, Small hand, Hypogonadotropic hypogonadism, Abnormal ulnar metaphysis... |
ORPHA:177910 |
Diastrophic Dysplasia |
|
Macrocephaly, Micromelia, Symphalangism affecting the phalanges of the hand, Ulnar deviation of f... |
ORPHA:628 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Clinodactyly of the 5th finger, Small for gestational age, Osteoporosis, Trunc... |
ORPHA:73272 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Failure to thrive, Cone-shaped epiphyses of the distal phalanges of the hand, Cryptorchidism, Mic... |
OMIM:618958 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Immunodeficiency 54 |
|
Adrenal insufficiency, Failure to thrive, Adrenocorticotropic hormone excess, Chromosome breakage... |
OMIM:609981 |
Lig4 Syndrome |
|
Clinodactyly of the 5th finger, Type II diabetes mellitus, Hypoplasia of penis, Leukocytosis, Ups... |
ORPHA:99812 |
Charge Syndrome |
|
Labial hypoplasia, External genital hypoplasia, Hemivertebrae, Down-sloping shoulders, Hypoplasia... |
OMIM:214800 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Anemia, Hepatosplenomegaly, Hypoplasia of the femoral ... |
OMIM:209950 |
Basal Cell Nevus Syndrome |
|
Macrocephaly, Hemivertebrae, Down-sloping shoulders, Cataract, Microphthalmia, Ovarian carcinoma,... |
OMIM:109400 |
Cohen Syndrome |
|
Tapered finger, Narrow palm, Optic atrophy, Downslanted palpebral fissures, Genu valgum, Long eye... |
ORPHA:193 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Metaphyseal dysplasia, Decreased body weight, Atrial septal defect... |
ORPHA:1667 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Delayed skeletal ma... |
OMIM:210720 |
Xeroderma Pigmentosum, Complementation Group F |
|
Decreased body weight, Flexion contracture, Short stature, Microcephaly, Scoliosis, Astigmatism, ... |
OMIM:278760 |
Koolen-De Vries Syndrome |
|
Overfriendliness, Vertebral segmentation defect, Kyphosis, Abnormal cardiac septum morphology, Bi... |
ORPHA:96169 |
Multiple Pterygium Syndrome, Lethal Type |
|
Amyoplasia, Multiple pterygia, Joint dislocation, Hypoplastic heart, Flexion contracture, Thin ri... |
OMIM:253290 |
Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Abnormality of the v... |
ORPHA:2345 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Microcytic anemia, Cataract, Hypoalbuminemia, Microphthalmia, Failure to ... |
OMIM:618805 |
Alg1-Cdg |
|
Kyphosis, Scoliosis, Cardiomyopathy, Hypoalbuminemia, Progressive microcephaly, Limitation of joi... |
ORPHA:79327 |
Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Abnormality of finger, Severe short stature, Hypoplasia of the radiu... |
ORPHA:2319 |
Mesomelic Limb Shortening And Bowing |
|
Bowing of the legs, Mesomelic leg shortening, Camptodactyly of finger, Bowing of the arm, Mesomel... |
OMIM:249710 |
Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, Macrocephaly, Short stature, Abnormal anterior chamber morphology, Osteopenia, Microcep... |
ORPHA:2479 |
Hypomelanosis Of Ito |
|
Kyphosis, Macrocephaly, Microcephaly, Scoliosis, Syndactyly, Epicanthus, Iris coloboma, Cataract,... |
OMIM:300337 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Tricuspid valve prolapse, Hypoplasia of the musculature, Talipes equinovarus, Camptodactyly of fi... |
ORPHA:1101 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Short neck, Hammertoe, Ventral hernia, Umbilical hernia, Cervical C2/C3 vertebral fus... |
OMIM:618000 |
Bardet-Biedl Syndrome 5 |
|
External genital hypoplasia, Rod-cone dystrophy, Micropenis, Brachydactyly, Syndactyly, Polydacty... |
OMIM:615983 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of penis, Uterus didelphys, Short humerus, Micromelia,... |
ORPHA:2491 |
Cornelia De Lange Syndrome 2 |
|
Thick eyebrow, Short stature, Small hand, Microcephaly, Short neck, Brachydactyly, Highly arched ... |
OMIM:300590 |
Fanconi Anemia, Complementation Group F |
|
Failure to thrive, Atrial septal defect, Cryptorchidism, Absent thumb, Short stature, Hypoplasia ... |
OMIM:603467 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Short stature, Radi... |
ORPHA:2725 |
Fanconi Anemia, Complementation Group O |
|
Chromosome breakage, Absent thumb, Short stature, Hypoplasia of the radius, Small thenar eminence... |
OMIM:613390 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal guttata, Corneal dystrophy, Corneal degeneration |
OMIM:610158 |
Sponastrime Dysplasia |
|
Platyspondyly, Biconcave vertebral bodies, Genu valgum, Knee pain, Cataract, Hip subluxation, Rhi... |
ORPHA:93357 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Hypoplasia of the radius, Hemivertebrae, Anophthalmia, Abnormal form of the verte... |
ORPHA:3412 |
Diaphanospondylodysostosis |
|
Abnormal vertebral segmentation and fusion, Narrow pelvis bone, Short neck, Absent or minimally o... |
ORPHA:66637 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Rocker bottom foot, Intrauterine growth retardation, Failure to thrive in infancy, Abnormal heart... |
OMIM:610758 |
Focal Dermal Hypoplasia |
|
Labial hypoplasia, Congenital hip dislocation, Clitoral hypoplasia, Optic atrophy, Umbilical hern... |
OMIM:305600 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Short 1st metacarpal, Platyspondyly, Short neck, Monkey wrenc... |
OMIM:251450 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Short neck, Rhizomelia, Clubbing, Multinucleated giant chondrocyt... |
OMIM:108720 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Fibrodysplasia Ossificans Progressiva |
|
Failure to thrive, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hal... |
ORPHA:337 |
Otopalatodigital Syndrome, Type Ii |
|
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Platyspondyly, Ru... |
OMIM:304120 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoglycemia, Failure to thrive, Intrauterine growth retardation, Hypoalbuminemia |
OMIM:617156 |
Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Hypergonadotropic hypogonadism, Complete duplication of thumb phalanx, Pancytopenia... |
OMIM:227646 |
20P13 Microdeletion Syndrome |
|
Wide anterior fontanel, Decreased body weight, Macrocephaly, Retinopathy, Microcephaly, Brachydac... |
ORPHA:313781 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Microcephaly, Pancytopenia, Postnatal growth retardation, Intrauterine growth retardation, Abnorm... |
OMIM:600546 |
Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... |
OMIM:217700 |
Spondyloperipheral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Shortening of all proximal pha... |
OMIM:271700 |
Ataxia-Telangiectasia |
|
Failure to thrive, Type II diabetes mellitus, Lymphopenia, Short stature, Delayed puberty, Diabet... |
ORPHA:100 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Craniofacial hyperostosis, Splenomegaly, Abnormal form of the ve... |
ORPHA:1802 |
Abetalipoproteinemia |
|
Corneal ulceration, Osteopenia, Reticulocytosis, Cardiomegaly, Hypopigmentation of the fundus, Ab... |
ORPHA:14 |
Pelvis-Shoulder Dysplasia |
|
Microcornea, Ambiguous genitalia, Absent proximal finger flexion creases, Talipes equinovarus, Sh... |
ORPHA:2839 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Platyspondyly, Brachydactyly, Short humerus, Rhizomelia, Short... |
OMIM:601438 |
Sifrim-Hitz-Weiss Syndrome |
|
Macrocephaly, Tapered finger, Ventricular septal defect, Ambiguous genitalia, Short palpebral fis... |
OMIM:617159 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration |
OMIM:619874 |
Galloway-Mowat Syndrome 3 |
|
Failure to thrive, Short stature, Arachnodactyly, Microcephaly, Camptodactyly, Downslanted palpeb... |
OMIM:617729 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Down-sloping shoulders, Ulnar deviation of finger, Umbil... |
OMIM:265000 |
Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Diastasis recti, Decreased body weight, Clinodactyly of the 5th finger, Relative macrocephaly, Ab... |
ORPHA:231140 |
Oculoauricular Syndrome |
|
Morning glory anomaly, Microcornea, Cataract, Iris cyst, Microphthalmia, Microphakia, Retinal det... |
OMIM:612109 |
Cerebrooculonasal Syndrome |
|
Macrocephaly, Sparse eyebrow, Postaxial polydactyly, Craniosynostosis, Optic nerve hypoplasia, Sp... |
OMIM:605627 |
Phacoanaphylactic Uveitis |
|
Keratitis, Pseudophakia, Panuveitis, Corneal stromal edema, Posterior uveitis, Tractional retinal... |
ORPHA:209959 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid valve prolapse, Abnormal cardiac septum morphology, Retinal dystrophy, Ambiguous genita... |
ORPHA:2556 |
Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, Kyphosis, Wide anterior fontanel, Short stature, Pulmonic stenosi... |
ORPHA:3098 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Butterfly vertebrae, Lumbar hyperlordosis, 2-3 toe syndactyly, Scoliosis, Thoracic kyphoscoliosis... |
ORPHA:313892 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Hemivertebrae, Spina bifida occulta, Block vertebrae, Abnormality ... |
OMIM:613686 |
Cockayne Syndrome Type 1 |
|
Failure to thrive, Increased blood urea nitrogen, Postnatal growth retardation, Cryptorchidism, S... |
ORPHA:90321 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Abnormal corneal endothelium morphology, Ocular anterior segment dysgenesis, Anterior encephalocele |
OMIM:614195 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Hypoplasia... |
OMIM:274000 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Overlapping toe, Growth delay, Cryptorchidism, Small for gestational age, Postaxial polydactyly, ... |
OMIM:613792 |
Fanconi Anemia, Complementation Group E |
|
Neutropenia, Microphthalmia, Cryptorchidism, Absent thumb, Small for gestational age, Short statu... |
OMIM:600901 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Coxa vara, Severe short stature, Short long bone, Platyspondyly, Scoliosis, Genu varum, Enlarged ... |
OMIM:618728 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizomelia, Intrauterine growth retarda... |
OMIM:601560 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Congenital hypothyroidism, Hypoalbuminemia, Obesity, Cardiomegaly |
ORPHA:88643 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal guttata, Corneal dystrophy |
OMIM:613268 |
Duane Retraction Syndrome |
|
Hypoplasia of the radius, Short neck, Microcornea, Skeletal muscle atrophy, Hypoplastic iris stro... |
ORPHA:233 |
X-Linked Endothelial Corneal Dystrophy |
|
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
Multiple Synostoses Syndrome 1 |
|
Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalanges of the hand, Si... |
OMIM:186500 |
Otopalatodigital Syndrome Type 2 |
|
Failure to thrive, Carpal synostosis, Increased bone mineral density, Flared iliac wing, Abnormal... |
ORPHA:90652 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Femoral bowing, Thin bony cortex, Difficulty walking, Metaphyseal irregularity, Subperiosteal bon... |
OMIM:264700 |
Femoral-Facial Syndrome |
|
Vertebral segmentation defect, Coxa vara, Rib fusion, Talipes equinovarus, Aplasia/Hypoplasia of ... |
ORPHA:1988 |
Xfe Progeroid Syndrome |
|
Corneal scarring, Failure to thrive, Severe short stature, Cachexia, Microcephaly, Attenuation of... |
OMIM:610965 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... |
OMIM:300106 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Short neck, Optic atrophy, Long eyelashes, Abnormal heart morphology, Joint stiffness, Flexion co... |
ORPHA:505248 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Lymphopenia, Micropenis, Microcephaly, Hypoglycemia, Hypertriglyceridemia,... |
OMIM:617575 |
Fanconi Anemia, Complementation Group A |
|
Neutropenia, Microphthalmia, Cryptorchidism, Absent thumb, Small for gestational age, Short statu... |
OMIM:227650 |
Familial Thyroid Dyshormonogenesis |
|
Delayed proximal femoral epiphyseal ossification, Delayed cranial suture closure, Abnormal circul... |
ORPHA:95716 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Macrocephaly, Craniosynostosis, Downslanted palpebral fissures, Ventricular septal defect, Rocker... |
OMIM:301056 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad phalanx, Atrioventricular canal defect, Short neck, Hypermobility of interphalangeal joints... |
ORPHA:508498 |
Three M Syndrome 1 |
|
Short neck, Hypoplastic pelvis, Delayed skeletal maturation, Intrauterine growth retardation, Cli... |
OMIM:273750 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... |
OMIM:617315 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Abnormal morphology of ulna, Split foot, Abnormality of the ankles, Aplasia/Hypoplasia of the rad... |
ORPHA:1307 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Failure to thrive, Decreased body weight, Short stature, Short 5th finger, Short 4th toe, Short 3... |
OMIM:619060 |
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance |
|
Short toe, Decreased body weight, Cryptorchidism, External genital hypoplasia, Short stature, Mic... |
OMIM:612947 |
Terminal Osseous Dysplasia |
|
Multiple joint contractures, Short toe, Mesomelic leg shortening, Toe clinodactyly, Camptodactyly... |
OMIM:300244 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Thick eyebrow, Poor eye contact, Anophthalmia, Telecanthus, Long eyelashes, Synophrys |
ORPHA:411986 |
Chromosome 16Q22 Deletion Syndrome |
|
Failure to thrive, Wide anterior fontanel, Growth delay, Short palpebral fissure, Cryptorchidism,... |
OMIM:614541 |
Alagille Syndrome |
|
Vertebral segmentation defect, Failure to thrive, Short distal phalanx of finger, Clinodactyly of... |
ORPHA:52 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin, Back pain |
ORPHA:2924 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Corneal guttata, Corneal dystrophy |
OMIM:609141 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Tho... |
OMIM:309620 |
Isolated Osteopoikilosis |
|
Abnormality of femur morphology, Abnormally ossified vertebrae, Sclerotic scapulae, Abnormal hear... |
ORPHA:166119 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... |
OMIM:616050 |
Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity, Exudative vitreoretinopathy, Abnormal femoral neck/head morphology, Microphthalm... |
ORPHA:2788 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Distal Monosomy 17Q |
|
Abnormal cardiac septum morphology, Abnormal hip bone morphology, Small hand, Short stature, Prom... |
ORPHA:1597 |
Acromesomelic Dysplasia 2A |
|
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... |
OMIM:200700 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Dyggve-Melchior-Clausen Disease |
|
Broad carpal bones, Platyspondyly, Short neck, Abnormality of the ankles, Hypoplasia of the capit... |
ORPHA:239 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Bone pain, Recurrent fractures, Hypophosphatemia, Hypocalcemia, Joint dislocation, Abnormal adipo... |
ORPHA:93160 |
Lamb-Shaffer Syndrome |
|
Mild postnatal growth retardation, Abnormal social behavior, Microcephaly, Scoliosis, Optic atrop... |
ORPHA:530983 |
Temple Syndrome |
|
Type II diabetes mellitus, Clinodactyly of the 5th finger, Relative macrocephaly, Postnatal growt... |
ORPHA:254516 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Failure to thrive, Hyperbilirubinemia |
OMIM:614300 |
Baraitser-Winter Syndrome 1 |
|
Failure to thrive, Ptosis, Bicuspid aortic valve, Aortic valve stenosis, Short stature, Micropeni... |
OMIM:243310 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Failure to thrive, Hypophosphatemic rickets, Hypophosphatemia, Metaphyseal irregularity, Tibial b... |
OMIM:241530 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Abnormality of the vertebral endplates, Platyspondyly, Irregular epiphyse... |
ORPHA:1856 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Postaxial polydactyly, Upslanted palpebral fissure, Hypospadias, Broad distal phalanx o... |
OMIM:615761 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Macrocephaly, Craniosynostosis, Hemivertebrae, Short neck, Large for gestational age, Long eyelas... |
OMIM:213980 |
Desbuquois Dysplasia 2 |
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Cutaneous syndactyly, Platyspondyly, Short neck, Monkey wrench femoral neck, Single transverse pa... |
OMIM:615777 |
Frontometaphyseal Dysplasia 1 |
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Craniosynostosis, Increased density of long bone diaphyses, Scapular winging, Genu valgum, Partia... |
OMIM:305620 |
Insulin-Resistance Syndrome Type B |
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Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... |
ORPHA:2298 |
3C Syndrome |
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Abnormal mitral valve morphology, Macrocephaly, Atrioventricular canal defect, Hemivertebrae, Sho... |
ORPHA:7 |
Hyperbilirubinemia, Rotor Type |
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Conjugated hyperbilirubinemia |
OMIM:237450 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Pear-shap... |
ORPHA:93356 |
Jaundice, Familial Obstructive, Of Infancy |
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Neonatal hyperbilirubinemia |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
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Conjugated hyperbilirubinemia |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
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Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Crigler-Najjar Syndrome, Type Ii |
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Unconjugated hyperbilirubinemia |
OMIM:606785 |
Congenital Disorder Of Glycosylation, Type Ia |
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Kyphosis, Failure to thrive, Flexion contracture, Rod-cone dystrophy, Hypergonadotropic hypogonad... |
OMIM:212065 |
Frontometaphyseal Dysplasia |
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Limitation of movement at ankles, Craniosynostosis, Limitation of knee mobility, Single transvers... |
ORPHA:1826 |
Fanconi Anemia, Complementation Group D1 |
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Failure to thrive, T-cell acute lymphoblastic leukemias, Short stature, Microcephaly, Chromosomal... |
OMIM:605724 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
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Failure to thrive, Short femur, Short humerus, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
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Failure to thrive, Precocious puberty, Hyponatremia, Cryptorchidism, Hyperkalemia |
OMIM:614736 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
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Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... |
OMIM:618395 |
Shox-Related Short Stature |
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Forearm undergrowth, Tibial bowing, Short neck, Scoliosis, Genu valgum, Cubitus valgus, Short foo... |
ORPHA:314795 |
Meckel Syndrome |
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Anencephaly, Microcornea, Optic atrophy, Ambiguous genitalia, Cataract, Bowing of the long bones,... |
ORPHA:564 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
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Increased total bilirubin, Back pain |
OMIM:174050 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
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Short clavicles, Rod-cone dystrophy, Short ribs, Short stature, Short neck, Scoliosis, Biconcave ... |
OMIM:610319 |
Bardet-Biedl Syndrome 11 |
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Retinopathy, Obesity, Polydactyly, Hypogonadism |
OMIM:615988 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... |
OMIM:605814 |
Dubin-Johnson Syndrome |
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Conjugated hyperbilirubinemia |
OMIM:237500 |
Prader-Willi Syndrome |
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Hyperinsulinemia, External genital hypoplasia, Osteopenia, Clitoral hypoplasia, Narrow palm, Genu... |
OMIM:176270 |
Saul-Wilson Syndrome |
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Short distal phalanx of finger, Intrauterine growth retardation, Cone-shaped epiphyses of the pha... |
OMIM:618150 |
Crigler-Najjar Syndrome, Type I |
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Unconjugated hyperbilirubinemia |
OMIM:218800 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Decreased body weight, Hyperbilirubinemia, Elevated circulating long chain fatty acid concentrati... |
OMIM:614886 |
Codas Syndrome |
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Short metacarpal, Short stature, Congenital hip dislocation, Scoliosis, Abnormal form of the vert... |
ORPHA:1458 |
Atelosteogenesis, Type Iii |
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Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Horizontal sacrum, Tombstone... |
OMIM:108721 |
Warburg Micro Syndrome 3 |
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Kyphoscoliosis, Clinodactyly of the 5th finger, Shallow anterior chamber, Flexion contracture, Mi... |
OMIM:614222 |
Duane-Radial Ray Syndrome |
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Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Ventricular septal defect, Catara... |
OMIM:607323 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
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Anophthalmia, Ankyloblepharon, Microphthalmia |
ORPHA:85275 |
Multiple Osteochondromas |
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Abnormality of femur morphology, Abnormal hand morphology, Abnormality of fibula morphology, Limi... |
ORPHA:321 |
Kniest Dysplasia |
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Enlarged joints, Platyspondyly, Short neck, Hypoplastic pelvis, Rhizomelia, Umbilical hernia, Dum... |
OMIM:156550 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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Delayed proximal femoral epiphyseal ossification, Platyspondyly, Short neck, 11 pairs of ribs, Ve... |
OMIM:271640 |
Chondrodysplasia-Disorder Of Sex Development Syndrome |
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Increased skull ossification, Severe short stature, Male pseudohermaphroditism, Microcephaly, Mic... |
ORPHA:1422 |
Bardet-Biedl Syndrome 12 |
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Obesity, Polydactyly, Rod-cone dystrophy, Hypogonadism |
OMIM:615989 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
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Femoral bowing, Platyspondyly, Severe platyspondyly, Rhizomelia, Ovoid vertebral bodies, Joint st... |
OMIM:608940 |
Cutis Laxa, Autosomal Recessive, Type Iie |
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Lumbar hyperlordosis, Clinodactyly of the 5th finger, Craniosynostosis, Short stature, Deep palma... |
OMIM:619451 |
Congenital Disorder Of Glycosylation, Type Ig |
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Failure to thrive, Hypocalcemia, Butterfly vertebrae, Talipes equinovarus, Micropenis, Small for ... |
OMIM:607143 |
Desbuquois Syndrome |
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Coxa vara, Abnormal femoral neck/head morphology, Clinodactyly of the 5th finger, Genu recurvatum... |
ORPHA:1425 |
2Q31.1 Microdeletion Syndrome |
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Short neck, Tapered finger, Abnormality of fibula morphology, Sandal gap, Delayed skeletal matura... |
ORPHA:251014 |
Otospondylomegaepiphyseal Dysplasia |
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Enlarged joints, Abnormally ossified vertebrae, Platyspondyly, Short neck, Flared femoral metaphy... |
ORPHA:1427 |
Bartsocas-Papas Syndrome 1 |
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Corneal ulceration, Ablepharon, Ankyloblepharon, Absent thumb, Short neck, Cicatricial lagophthal... |
OMIM:263650 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Kyphosis, Abnormal reticulocyte morphology, Abnormal hip bone morphology, Short stature, Hypospad... |
ORPHA:2522 |
Kbg Syndrome |
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Cutaneous syndactyly, Short neck, Single transverse palmar crease, Downslanted palpebral fissures... |
OMIM:148050 |
Au-Kline Syndrome |
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Overlapping toe, Postaxial polydactyly, Craniosynostosis, Deep palmar crease, Long palpebral fiss... |
OMIM:616580 |
Vitamin D-Dependent Rickets, Type 2A |
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Femoral bowing, Thin bony cortex, Difficulty walking, Metaphyseal irregularity, Subperiosteal bon... |
OMIM:277440 |
Rhizomelic Dysplasia, Ain-Naz Type |
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Short femur, Platyspondyly, Hypoplasia of the femoral head, Short humerus, Wide distal femoral me... |
OMIM:619598 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Spinal canal stenosis, Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Abno... |
OMIM:307800 |
Rere-Related Neurodevelopmental Syndrome |
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Abnormal heart morphology, Intrauterine growth retardation, Cryptorchidism, Hypospadias, Broad ey... |
ORPHA:494344 |
Multiple Epiphyseal Dysplasia Type 5 |
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Delayed proximal femoral epiphyseal ossification, Arthralgia of the hip, Difficulty walking, Genu... |
ORPHA:93311 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Reduced muscle fiber alpha dystroglycan, Lumbar hyperlordosis, Hypoglycosylation of alpha-dystrog... |
ORPHA:370959 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... |
OMIM:600785 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Obesity, Hyperbilirubinemia |
OMIM:609734 |
Osebold-Remondini Syndrome |
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Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Microphthalmia, Syndromic 12 |
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Bicornuate uterus, Congenital diaphragmatic hernia, Anophthalmia, Hypoplastic left atrium, Ventri... |
OMIM:615524 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Short neck, Hypoplasia of the capital femoral epiphysis, Hypoplasia of the ulna, Genu valgum, Rhi... |
OMIM:143095 |
Dyggve-Melchior-Clausen Disease |
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Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Platyspondyly, Short neck, Rh... |
OMIM:223800 |
Mucopolysaccharidosis, Type Vii |
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Macrocephaly, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Genu valgum, Umbil... |
OMIM:253220 |
Hepatic Veno-Occlusive Disease |
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Increased body weight, Increased total bilirubin |
ORPHA:890 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
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Osteopenia, Premature thelarche, Abnormal hand morphology, Ventricular septal defect, Osteolysis,... |
ORPHA:371428 |
Marshall Syndrome |
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Clinodactyly of the 5th finger, Radial bowing, Lens luxation, Short stature, Hypoplastic ilia, Pl... |
OMIM:154780 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
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Failure to thrive, Short stature, Keratoconus, Hypoalbuminemia, Decreased circulating copper conc... |
OMIM:242150 |
19P13.3 Microduplication Syndrome |
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Intrauterine growth retardation, Kyphoscoliosis, Growth delay, Precocious puberty, Upslanted palp... |
ORPHA:447980 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Cone-shaped epiphyses of the phalanges of the hand, Blue irides, Accelerated skeletal maturation,... |
OMIM:101800 |
Codas Syndrome |
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Atrioventricular canal defect, Congenital hip dislocation, Ventricular septal defect, Broad skull... |
OMIM:600373 |
Aicardi Syndrome |
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Hemivertebrae, Optic disc coloboma, Optic atrophy, Cataract, Microphthalmia, Block vertebrae, Spa... |
OMIM:304050 |
Seckel Syndrome 1 |
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Cone-shaped epiphyses of the phalanges of the hand, 11 pairs of ribs, Single transverse palmar cr... |
OMIM:210600 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
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Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Osteopenia, Cone-sha... |
ORPHA:457395 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Weill-Marchesani Syndrome 2 |
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Shallow orbits, Thin bony cortex, Ventricular septal defect, Broad skull, Iridodonesis, Cataract,... |
OMIM:608328 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
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Failure to thrive, Small for gestational age, Microcephaly, Elevated circulating creatine kinase ... |
OMIM:619055 |
Analbuminemia |
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Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... |
OMIM:616000 |
Poland Syndrome |
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Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Vertebral segmentat... |
ORPHA:2911 |
Slc35A2-Cdg |
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Craniosynostosis, Osteopenia, Hip subluxation, Limb joint contracture, Intrauterine growth retard... |
ORPHA:356961 |
Bardet-Biedl Syndrome 10 |
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Rod-cone dystrophy, Polydactyly, Retinal dystrophy, Hypogonadism, Obesity |
OMIM:615987 |
49,Xyyyy Syndrome |
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Abnormality of the testis size, Large carpal bones, Eunuchoid habitus, External genital hypoplasi... |
ORPHA:99330 |
Bardet-Biedl Syndrome 13 |
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Rod-cone dystrophy, Attenuation of retinal blood vessels, Polydactyly, Bone spicule pigmentation ... |
OMIM:615990 |
Branchiooculofacial Syndrome |
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Short neck, Single transverse palmar crease, Cataract, Microphthalmia, Intrauterine growth retard... |
OMIM:113620 |
Silver-Russell Syndrome |
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Sandal gap, Delayed skeletal maturation, Intrauterine growth retardation, Failure to thrive in in... |
ORPHA:813 |
Spondylocostal Dysostosis 5 |
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Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Low back pain, Vertebral fusion |
OMIM:122600 |
14Q22Q23 Microdeletion Syndrome |
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Downslanted palpebral fissures, Delayed skeletal maturation, Small scrotum, Clinodactyly of the 5... |
ORPHA:264200 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Failure to thrive, Ambiguous genitalia, female, Ambiguous genitalia, male, Male pseudohermaphrodi... |
ORPHA:90791 |
Marden-Walker Syndrome |
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Short neck, Radioulnar synostosis, Microphthalmia, Intrauterine growth retardation, Talipes equin... |
OMIM:248700 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Abnormality of the Leydig cells, Increased circulating renin level, Clitoral hypertrophy, Delayed... |
ORPHA:168558 |
Caudal Regression Syndrome |
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Joint stiffness, Hypoplastic vertebral bodies, Talipes equinovarus, Abnormal iliac wing morpholog... |
ORPHA:3027 |
Kaposiform Lymphangiomatosis |
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Abnormality of femur morphology, Splenomegaly, Anemia, Fractures of the long bones, Abnormal sple... |
ORPHA:464329 |
Smith-Magenis Syndrome |
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Joint stiffness, Clinodactyly of the 5th finger, Precocious puberty, Short stature, Upslanted pal... |
ORPHA:819 |
Autosomal Dominant Omodysplasia |
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Hypoplasia of penis, Bifid scrotum, Short 1st metacarpal, Short humerus, Ambiguous genitalia, Rhi... |
ORPHA:93328 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
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Failure to thrive, Decreased body weight, Flexion contracture, Abnormal circulating selenium conc... |
ORPHA:89842 |
Short Rib-Polydactyly Syndrome |
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Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Intrauterine growth retardation, Sho... |
ORPHA:1505 |
19P13.12 Microdeletion Syndrome |
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Craniosynostosis, Short neck, Ventricular septal defect, Sandal gap, Intrauterine growth retardat... |
ORPHA:254346 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
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Sparse eyebrow, Hemivertebrae, Short neck, Downslanted palpebral fissures, Rhizomelia, Cataract, ... |
OMIM:302960 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Abnormality of the Leydig cells, Increased circulating renin level, Clitoral hypertrophy, Delayed... |
ORPHA:289548 |
Nevus Comedonicus Syndrome |
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Preaxial polydactyly, Microcephaly, Scoliosis, Spina bifida occulta, Cataract, Abnormal vertebral... |
ORPHA:64754 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
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Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact... |
ORPHA:52056 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
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Precocious puberty, Postnatal growth retardation, Small for gestational age, Maturity-onset diabe... |
ORPHA:96184 |
Megalocornea-Mental Retardation Syndrome |
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Macrocephaly, Genu recurvatum, Short stature, Arachnodactyly, Osteopenia, Microcephaly, Megalocor... |
OMIM:249310 |
Bloom Syndrome |
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Clinodactyly of the 5th finger, Type II diabetes mellitus, Chromosome breakage, Postnatal growth ... |
OMIM:210900 |
Juvenile Polyposis Of Infancy |
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Macrocephaly, Atrial septal defect, Short stature, Cachexia, Freckled genitalia, Downslanted palp... |
ORPHA:79076 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
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Failure to thrive, Hepatocellular necrosis, Hyperbilirubinemia, Splenomegaly, Microcephaly, Hypog... |
OMIM:251880 |
Cerebrooculonasal Syndrome |
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Hypoplasia of penis, Sparse eyebrow, Sparse eyelashes, Upslanted palpebral fissure, Anophthalmia,... |
ORPHA:66625 |
Oculodentodigital Dysplasia |
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Microcornea, Optic atrophy, Ventricular septal defect, Cataract, Umbilical hernia, Abnormal metap... |