Sirenomelia |
|
Absence of the sacrum, Spina bifida, Renal hypoplasia/aplasia, Tracheoesophageal fistula, Sirenom... |
ORPHA:3169 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida, Short neck, Renal hypoplasia/aplasia, Abnormal sacrum mo... |
ORPHA:2345 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Anal atresia |
ORPHA:63260 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Short neck, Abnormal form of the vertebral bodies, Verte... |
ORPHA:2311 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Trident pelvis, Bowing of the long bones, Ventricular septal defect, Kyp... |
OMIM:614815 |
Oeis Complex |
|
Congenital hip dislocation, Epispadias, Ambiguous genitalia, female, Hemivertebrae, Anteriorly pl... |
OMIM:258040 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Bicuspid aortic valve, Short neck, Abnormal optic disc morphology, Thoracic k... |
ORPHA:508498 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Neurogenic bladder, Anal stenosis, Abnormal odontoid process morphology, Block ... |
OMIM:613686 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Short femur, Renal hypoplasia/aplasia, Cryptorchidism, Abnormal sacrum morpholog... |
ORPHA:1988 |
Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Omphalocele, Spina bifida, Renal hypoplasia/apla... |
ORPHA:1756 |
Vacterl/Vater Association |
|
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morphol... |
ORPHA:887 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Becker Nevus Syndrome |
|
Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Hypoplas... |
ORPHA:64755 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve, 3-5 toe syndactyly, Atrial septal defect, Vesicoureteral reflux, Clinodact... |
OMIM:300707 |
Renal Agenesis, Bilateral |
|
Renal agenesis, Abnormal sacrum morphology, Tracheoesophageal fistula, Cleft palate, Sirenomelia,... |
ORPHA:1848 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Renal agenesis, Ectopic kidney, Short neck, Abnormal rib morphology, Azoospermia, Vertebral segme... |
ORPHA:2578 |
Doors Syndrome |
|
Hemivertebrae, Abnormal finger morphology, Nephrocalcinosis, High palate, Triphalangeal thumb, Cl... |
ORPHA:79500 |
Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Intestinal malrotation, Spina bifida, Ectopic kidney, Renal hyp... |
ORPHA:93929 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx... |
ORPHA:2839 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Fanconi Anemia, Complementation Group R |
|
Tethered cord, Absent thumb, Hydrocephalus, Scoliosis, Anal atresia, Pelvic kidney, Radial dysplasia |
OMIM:617244 |
Spina Bifida-Hypospadias Syndrome |
|
Hypospadias, Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Renal cyst, Micropenis, Pelvic kidney, Abnormality of the cervical spine, Hypospadias, Tapered fi... |
ORPHA:464311 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Structural foot deformity, Renal cyst, Clinodactyly of the 5th finger, Micropenis, Pelvic kidney,... |
ORPHA:464306 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the rad... |
ORPHA:2476 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Inguinal hernia, Spina bifida, Mitral valve prolapse, Talipes equinovarus, Camptodactyly |
OMIM:211960 |
Marcus-Gunn Syndrome |
|
Nephrolithiasis, Abnormal fifth cranial nerve morphology, Cleft palate, Abnormal heart morphology |
ORPHA:91412 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micromelia, Short neck, Hemivertebrae, Finger clinodactyly, High palate, Abn... |
ORPHA:99776 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Micromelia, Short neck, Bilateral... |
ORPHA:508488 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Dextrocardia, Rib fusion, Hemivertebrae, Unilateral brachyda... |
OMIM:173800 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Shor... |
ORPHA:1120 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Inguinal hernia, Renal malrotation, Ventricular septal defect, Cryptorchidi... |
OMIM:601186 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Small scrotum, Symphalangism affecting the phalanges of the hand, Abnormal s... |
ORPHA:2990 |
Fanconi Anemia, Complementation Group D2 |
|
Ectopic kidney, Aplasia of the 1st metacarpal, Micropenis, Pelvic kidney, Renal duplication, Shor... |
OMIM:227646 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Abnormal rib morphology, Cleft palate,... |
OMIM:601076 |
Acalvaria |
|
Omphalocele, Talipes, Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Holo... |
ORPHA:945 |
Tetrasomy 15Q26 |
|
Arachnodactyly, Kyphoscoliosis, Hydrocephalus, Horseshoe kidney, High palate, Camptodactyly, Atri... |
OMIM:614846 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Bowed forearm bones, Renal agenesis, Ectopic kidney, Absent radius, Absent ... |
OMIM:602200 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Neonatal death, Cys... |
OMIM:613730 |
Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Cryptorchidism, Abnorm... |
ORPHA:1926 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Scapular winging, Sacral dimple, Toe syndactyly, Brachydactyly, Spina bifida, Camp... |
ORPHA:1327 |
Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Thoracolumbar scoliosis, Spina bifida, Dextrocardia, Myelomeningocele, Hydrocep... |
ORPHA:2437 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Hemivertebrae, Renal cyst, Anteriorly placed anus, Holoprosencephaly, Neonatal de... |
OMIM:146510 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Abnormal foot morphology, Preaxial polydactyly, ... |
ORPHA:64754 |
Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Atrial se... |
OMIM:607323 |
Trisomy 20P |
|
Short neck, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Finger syndacty... |
ORPHA:261318 |
Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Sacral dimple, Inguinal hernia, Cryptorchidism, Abnormality of the abdominal wall, C... |
OMIM:247200 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Short neck, Glossoptosis, Vertebral segmentation defect, High palate, Rhizome... |
OMIM:611209 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Renal agenesis, Ectopic kidney, Pectus excavatu... |
OMIM:212780 |
Fanconi Anemia, Complementation Group F |
|
Atrial septal defect, Sacral dimple, Absent thumb, Short thumb, Cryptorchidism, Hypoplasia of the... |
OMIM:603467 |
Split Cord Malformation |
|
Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Renal dupl... |
ORPHA:573278 |
Joubert Syndrome 15 |
|
Micropenis, Preaxial polydactyly, Exencephaly, Nephronophthisis |
OMIM:614464 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, 2-5 finger syndactyly, Hypospadias, Optic nerve hypoplasia, Camptodactyly of f... |
ORPHA:468631 |
Thrombocytopenia-Absent Radius Syndrome |
|
Clinodactyly of the 5th finger, Axial malrotation of the kidney, Genu varum, Finger syndactyly, A... |
ORPHA:3320 |
Fetal Encasement Syndrome |
|
Upper limb undergrowth, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level, Low... |
OMIM:613630 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, H... |
ORPHA:2319 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect |
OMIM:608681 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Overlapping toe, Tapered finger, Cryptorchidism, 2-3 toe syndactyly, Anteriorly ... |
OMIM:618653 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Pagod Syndrome |
|
Encephalocele, Abnormal clavicle morphology, Multicystic kidney dysplasia, Omphalocele, Spina bif... |
ORPHA:991 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Rectal prolapse, Cutaneous finger syndactyly, Protein-losing enteropathy, Short p... |
OMIM:235510 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Ambiguous genitalia, Renal agenesis, Missing ribs, Ect... |
ORPHA:3027 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Subvalvular aortic stenosis, Atrial sep... |
OMIM:613001 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Crossed fused renal ectopia, Overlapping toe, Hypoplastic right heart, Post... |
OMIM:618142 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Limb Body Wall Complex |
|
Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the hand, Atrial septal defect,... |
ORPHA:2369 |
Distal Triplication 15Q |
|
Arachnodactyly, Abnormality of the kidney, Kyphosis, Hydrocephalus, Dilatation of the renal pelvi... |
ORPHA:314588 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ectopic kidney, Preaxial polydactyly, Abnormal sternum morphology, Paten... |
OMIM:192350 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Pyloric stenosis, Rib fusion, Cleft palate, Abnormal ... |
ORPHA:261197 |
Mulchandani-Bhoj-Conlin Syndrome |
|
Hyperlordosis, 2-3 toe syndactyly, Horseshoe kidney, Scoliosis, Clinodactyly |
OMIM:617352 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Hemivertebrae, Nephrocalcinosis, Clitoral hypoplasia, Short palm, Thoracic hemiverteb... |
OMIM:268310 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Ectopic kidney, Cryptorchidism, Short thumb, A... |
ORPHA:401935 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Short neck, Pectus carinatum, Vertebral segmentation defect, Abnormal tricus... |
ORPHA:1507 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great a... |
OMIM:306955 |
Ophthalmoplegia, External, And Myopia |
|
Absent patellar reflexes, Spina bifida, Absent Achilles reflex |
OMIM:311000 |
Burning Mouth Syndrome |
|
Abnormal fifth cranial nerve morphology, Strawberry tongue, Xerostomia, Smooth tongue, Abnormalit... |
ORPHA:353253 |
Nail-Patella Syndrome |
|
Back pain, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the lateral border of the... |
OMIM:161200 |
Schisis Association |
|
Encephalocele, Omphalocele, Renal agenesis, Spina bifida, Micromelia, Anencephaly, Tracheoesophag... |
ORPHA:63862 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Hypospadias, Pyloric stenosis, Hydrocephalus, Horseshoe kidney |
OMIM:218350 |
Basal Cell Nevus Syndrome 1 |
|
Plantar pits, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, Vertebral fusion, Spin... |
OMIM:109400 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Sacral dimple, Bicuspid aortic valve, Hemivertebrae, Horseshoe kidney, Anal atresia |
OMIM:619318 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Rectal prolapse, Abnormal form of the v... |
ORPHA:904 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Renal cyst, Hors... |
OMIM:612284 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Short neck, Talipes calcaneovalgus, Knee flexion contracture, High palate, Camptodactyly of toe, ... |
OMIM:265000 |
Juberg-Hayward Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal toe morphology, Abnormal carpal morphology, Horseshoe k... |
OMIM:216100 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Ectopic kidney, 2-3 toe syndactyly, Cleft palate, Abnormal heart morphology, Abnormality of the v... |
OMIM:239800 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Edema of the dorsum of feet, Lateral clavicle hook, Femoral bowing, Abnorma... |
OMIM:274000 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Absent external gen... |
OMIM:271520 |
Roifman-Chitayat Syndrome |
|
Short metacarpal, Short neck, Ectopic kidney, Optic atrophy, Short metatarsal, Umbilical hernia |
OMIM:613328 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Pectus excavatum, Hi... |
ORPHA:957 |
Robinow Syndrome |
|
Small scrotum, External genital hypoplasia, Hemivertebrae, Clitoral hypoplasia, Atrial septal def... |
ORPHA:97360 |
1Q44 Microdeletion Syndrome |
|
Intestinal malrotation, Hydrocephalus, Horseshoe kidney, Abnormal cardiac septum morphology, High... |
ORPHA:238769 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Macroorchidism, Macrodactyly, Testicular neoplasm, Metatarsus v... |
ORPHA:744 |
Cornelia De Lange Syndrome 1 |
|
Micromelia, Short neck, Proximal placement of thumb, Ectopic kidney, High, narrow palate, Renal c... |
OMIM:122470 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Spina bifida, Pectus ... |
ORPHA:3219 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Multicystic kidney dysplasia, Spina bifida, Patent ductus arteriosus, Split ha... |
ORPHA:2092 |
Neural Tube Defects, Susceptibility To |
|
Absence of the sacrum, Sacral dimple, Urinary incontinence, Asymmetry of spinal facet joints, Hyd... |
OMIM:182940 |
Distal Deletion 10Q |
|
2-3 toe cutaneous syndactyly, Functional abnormality of the bladder, Short metatarsal, High palat... |
ORPHA:96148 |
Aicardi Syndrome |
|
Block vertebrae, Spina bifida, Missing ribs, Proximal placement of thumb, Precocious puberty, Hia... |
OMIM:304050 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res... |
OMIM:608022 |
Cat Eye Syndrome |
|
Vesicoureteral reflux, Atrial septal defect, Total anomalous pulmonary venous return, Pulmonic st... |
OMIM:115470 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Facial palsy, Spinal dysraphism |
ORPHA:1114 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Kyphosis, Myelomeningocele... |
ORPHA:1393 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Vertebral fusion, Hypospadias, Optic nerve hypoplasia, Hypogonadotropic hypo... |
OMIM:206900 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Short neck, Hemivertebrae, High palate, Narrow chest, At... |
OMIM:213980 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Patellar hypoplasia, Pectus carina... |
OMIM:114290 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Vertebral segmentation defect, Abnormality of the uterus, Atrial sept... |
ORPHA:2970 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormal rib morphology, Pectus carinatum, Radioulnar synostosis, Scoliosis, C... |
ORPHA:3268 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Hemivertebrae, Micropenis, Dysplastic sacrum, Cryptorchidism, Absent ver... |
OMIM:134780 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Short neck, Absent thumb, Short thumb, Short 1st metacarpal, Abnormal ... |
OMIM:609053 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Kyphosis, ... |
ORPHA:1354 |
Wolf-Hirschhorn Syndrome |
|
Abnormal form of the vertebral bodies, Atrial septal defect, Abnormal vertebral morphology, Tethe... |
ORPHA:280 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... |
ORPHA:322 |
Seckel Syndrome 8 |
|
Spinal cord compression, Kyphoscoliosis, Ectopic kidney |
OMIM:615807 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93260 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pect... |
ORPHA:175 |
Tarp Syndrome |
|
Atrial septal defect, Meckel diverticulum, Rocker bottom foot, Postaxial polydactyly, Hypoplasia ... |
OMIM:311900 |
Mosaic Variegated Aneuploidy Syndrome 3 |
|
Cleft palate, Nephroblastoma, Horseshoe kidney |
OMIM:617598 |
Fanconi Anemia, Complementation Group P |
|
Absent thumb, Short thumb, Cryptorchidism, Hypoplasia of the radius, Horseshoe kidney, Pelvic kidney |
OMIM:613951 |
Isolated Hemihyperplasia |
|
Inguinal hernia, Cryptorchidism, Myelomeningocele, Asymmetry of the thorax, Scoliosis, Nephroblas... |
ORPHA:2128 |
Waardenburg Syndrome Type 1 |
|
Aganglionic megacolon, Spina bifida, Meningocele, Cleft palate, Scoliosis, Sprengel anomaly |
ORPHA:894 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... |
ORPHA:363444 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Rectal prolapse, Nephrocalcinosis, Atrial septal defect, Vesicoureteral re... |
OMIM:194050 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Pes planus, Broad hallux, Short neck, 2-3 toe syndactyly, Horseshoe kidney, Short foot, Micropenis |
OMIM:300860 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Renal hypoplasia/aplasia, ... |
ORPHA:3258 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Inguinal hernia, Femoral hernia, Renal agenesis, Spina bifida, Renal hypop... |
ORPHA:3412 |
Fanconi Anemia |
|
Abnormal femur morphology, High palate, Abnormality of the uterus, Triphalangeal thumb, Clinodact... |
ORPHA:84 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Atrial septal defect, Tethered cord, Talipes, Submucous cleft hard palate,... |
OMIM:617660 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Abnormal calcification of the carpal bones, Aplasia of the 4th finger, ... |
ORPHA:93320 |
Hemihyperplasia, Isolated |
|
Myelomeningocele, Nephroblastoma, Scoliosis |
OMIM:235000 |
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome |
|
2-3 toe syndactyly, Horseshoe kidney, High palate, Scoliosis, Clinodactyly of the 5th finger |
ORPHA:502434 |
Diaphanospondylodysostosis |
|
Short neck, Myelomeningocele, Cleft palate, Multiple renal cysts, Absent or minimally ossified ve... |
ORPHA:66637 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Pes planus, Dilatation of renal calices, Branchial anomaly, Pes valgus, Short palm, Prominent fin... |
ORPHA:466950 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Renal hypoplasia, Abnormal he... |
OMIM:276950 |
Trisomy 18 |
|
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Spina bifida, Abnormality of the... |
ORPHA:3380 |
Acro-Renal-Ocular Syndrome |
|
Vertebral segmentation defect, Triphalangeal thumb, Vesicoureteral reflux, Vertebral fusion, Hypo... |
ORPHA:959 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Urinary incontinence, High palate, Clinodactyly of the 5th finger, Atrial sep... |
OMIM:619522 |
Iniencephaly |
|
Encephalocele, Omphalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hyperlordosis, Renal ag... |
ORPHA:63259 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Long hallux, Abnormality of the anus, Broad ha... |
ORPHA:2308 |
Feingold Syndrome Type 1 |
|
Short middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Vesicoureteral reflux, Ne... |
ORPHA:391641 |
Microphthalmia With Limb Anomalies |
|
Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pala... |
ORPHA:1106 |
15Q Overgrowth Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnodactyly, Ureterovesic... |
ORPHA:314585 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Ectopic kidney, Renal cyst, Anteriorly placed anus, Glossoptosis, Hig... |
OMIM:117650 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Knee flexion contracture, ... |
OMIM:619503 |
Lumbar Syndrome |
|
Bifid scrotum, Ambiguous genitalia, Hypospadias, Renal agenesis, Spina bifida, Bifid uterus, Cryp... |
ORPHA:83628 |
Anophthalmia Plus Syndrome |
|
Spina bifida, Cleft palate, Bilateral cleft lip and palate, Deviation of finger, Vertebral segmen... |
ORPHA:1104 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Death in infancy, Kyphoscoliosis, Horseshoe kidney |
OMIM:617664 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short neck, Short metatarsal, Femoral bowing, Tibial bowing, Narrow c... |
OMIM:304120 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Hydroceph... |
ORPHA:2635 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Cervical kyphosis, Kyphoscoliosis, Tapered finger, Slender finge... |
ORPHA:2953 |
Aicardi Syndrome |
|
Intestinal polyposis, Block vertebrae, Missing ribs, Precocious puberty, Hiatus hernia, Malabsorp... |
ORPHA:50 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Abnormal ... |
ORPHA:3109 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida, Precocious puberty, Cryptorchidism, Renal transitional cell carcinoma, Unilateral r... |
ORPHA:2874 |
Schizophrenia 1 |
|
Partially duplicated kidney, Syndactyly, Renal agenesis, Ectopic kidney, Short proximal phalanx o... |
OMIM:181510 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Tal... |
ORPHA:1908 |
Congenital Vertical Talus |
|
Pes planus, Rocker bottom foot, Equinus calcaneus, Abnormality of the foot musculature, Myelomeni... |
ORPHA:178382 |
Acces Syndrome |
|
Hip dislocation, Tracheoesophageal fistula, Horseshoe kidney, Split foot, Ectrodactyly, Clinodact... |
OMIM:619959 |
Kabuki Syndrome |
|
Hypoplasia of penis, Hemivertebrae, Abnormal form of the vertebral bodies, High palate, Hypospadi... |
ORPHA:2322 |
Ssr4-Cdg |
|
Scoliosis, Horseshoe kidney |
ORPHA:370927 |
Lathosterolosis |
|
Abnormal thoracic spine morphology, Hypoplasia of penis, Toe syndactyly, Talipes, Postaxial hand ... |
ORPHA:46059 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Pes cavus, Inguinal hernia, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Dilated ca... |
OMIM:616541 |
Short Stature, Brussels Type |
|
Horseshoe kidney |
ORPHA:2867 |
Bardet-Biedl Syndrome 21 |
|
Postaxial hand polydactyly, Horseshoe kidney |
OMIM:617406 |
Baller-Gerold Syndrome |
|
Patellar hypoplasia, Anteriorly placed anus, High palate, Spina bifida occulta, Abnormal vertebra... |
OMIM:218600 |
Meacham Syndrome |
|
Atrial septal defect, Death in infancy, Bicuspid aortic valve, Ventricular septal defect, Dextroc... |
OMIM:608978 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Crossed fused renal ectopia, Horseshoe kidney, Median cleft lip and palate |
ORPHA:2213 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hallux valgus, Sacral dimple, Arachnodactyly, Broad hallux, Spina bifida, Short neck, Proximal pl... |
OMIM:613776 |
Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Secundum atrial septal defect, Short thumb, Horseshoe kidney, Cleft pa... |
OMIM:612562 |
Pallister-Hall Syndrome |
|
Small scrotum, Ectopic kidney, Hemivertebrae, Holoprosencephaly, Atrial septal defect, Micropenis... |
ORPHA:672 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Increased intervertebral space, Thoracolumbar kyphosis, Short phalanx of finger, Abnormality of t... |
ORPHA:508533 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Facial palsy, Abnormal rib morphology, Abnormal form of the vertebral b... |
ORPHA:2790 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Abnormality of the knee, Short neck, Missing ribs, Renal hypoplasia/aplasia, Hydroce... |
ORPHA:1834 |
Orofaciodigital Syndrome V |
|
Ventricular septal defect, Aganglionic megacolon, Hamartoma of tongue, Sandal gap, Postaxial poly... |
OMIM:174300 |
Mosaic Trisomy 16 |
|
Syndactyly, Ventricular septal defect, Hypospadias, Large placenta, Short thumb, Horseshoe kidney... |
ORPHA:1708 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Fetal pyelectasis, Calcaneovalgus deformity, Positional foot deformity, Pe... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Fetal pyelectasis, Calcaneovalgus deformity, Positional foot deformity, Pe... |
ORPHA:363958 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Ventricular sept... |
ORPHA:93267 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Ventricular septal defect, Hydrocephalus, Meningocele, A... |
OMIM:611134 |
Bartsocas-Papas Syndrome 1 |
|
Short neck, Ectopic kidney, Bilateral cryptorchidism, Micropenis, Patent foramen ovale, Short pha... |
OMIM:263650 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Dextrocardia, Camptodactyly of finger, Meningocele, Duodenal stenosis, Ab... |
ORPHA:1759 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Renal cyst, Clinodactyly of the 5th finger, Abnormality of the anus, Hypospa... |
ORPHA:1606 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal finger morphology, Atrial septal defect, Microgastria, Multicystic kidney dysplasia, Hia... |
ORPHA:2538 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Metaphyseal widening, Pectus carinatum, Anterior beaking of lumbar vertebrae, Flaring... |
OMIM:253000 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Long coccyx, Narrow chest, Flaring of rib cage, Anisospon... |
OMIM:156530 |
Amish Lethal Microcephaly |
|
Organic aciduria, Optic atrophy, Cleft soft palate, Spina bifida |
ORPHA:99742 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Calcaneovalgus def... |
ORPHA:261537 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Abnormality of the ut... |
ORPHA:857 |
Cerebrofaciothoracic Dysplasia |
|
Short neck, Rib fusion, Hemivertebrae, Cleft palate, Vertebral segmentation defect, Narrow chest,... |
ORPHA:1394 |
12Q14 Microdeletion Syndrome |
|
Intestinal malrotation, Ectopic kidney, Renal hypoplasia, Horseshoe kidney, Syringomyelia, Scolio... |
ORPHA:94063 |
Seckel Syndrome 2 |
|
Clinodactyly of the 5th finger, Microglossia, Hypospadias, Ectopic kidney |
OMIM:606744 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Posterior rib fusion, Atrial septal defect, Neonat... |
OMIM:265380 |
Diphallia |
|
Ureteral duplication, Renal malrotation, Duplicated colon, Hypospadias, Rectoperineal fistula, Di... |
ORPHA:227 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal insufficiency, Toe syndactyly, Renal agenesis, Mitral atresia, Ectopic kidney, Hypoplasia o... |
ORPHA:140952 |
22Q11.2 Deletion Syndrome |
|
Short neck, Abnormality of the uterus, Vesicoureteral reflux, Atrial septal defect, Arachnodactyl... |
ORPHA:567 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Ectopic kidney, High palate, Clinodactyly of the 5th finger, Atrial septal... |
OMIM:607872 |
Gastroschisis |
|
Abdominal wall defect, Gastroschisis |
OMIM:230750 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Calcaneovalgus def... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Calcaneovalgus def... |
ORPHA:261552 |
Zttk Syndrome |
|
Ventricular septal defect, Polyuria, Unilateral renal agenesis, Kyphosis, Patent ductus arteriosu... |
OMIM:617140 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Hip dislocation, Kyphoscoliosis, Horseshoe kidney |
ORPHA:101003 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Abnormality of the kidney, Kyphosis, Dysplastic tric... |
ORPHA:1724 |
Mosaic Trisomy 14 |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short neck, Lower limb asymmetry, Cryp... |
ORPHA:1703 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Velopha... |
OMIM:613680 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ureteral stenosis, Ventricular septal defect, Rocker bottom foot, Ulnar deviation of ... |
OMIM:272950 |
Hallermann-Streiff Syndrome |
|
Spina bifida, Hyperlordosis, Pectus excavatum, Cryptorchidism, Metaphyseal widening, Optic disc c... |
OMIM:234100 |
Intellectual Developmental Disorder, X-Linked 99 |
|
Broad hallux, Broad thumb, Hypospadias, Ectopic kidney |
OMIM:300919 |
Pontine Tegmental Cap Dysplasia |
|
Facial palsy, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis |
OMIM:614688 |
Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Omphalocele, Cleft palate, Abnormal rib cage morphology, Hand polydact... |
OMIM:217100 |
Coffin-Siris Syndrome 1 |
|
Ectopic kidney, Prominent interphalangeal joints, High palate, Clinodactyly of the 5th finger, Pr... |
OMIM:135900 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Wolf-Hirschhorn Syndrome |
|
Abnormal form of the vertebral bodies, Atrial septal defect, Vertebral fusion, Tethered cord, Pse... |
OMIM:194190 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Pes planus, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodyspla... |
ORPHA:166035 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypoplasia, Hand monodactyly,... |
OMIM:609945 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia |
OMIM:207950 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Absent radius, Preaxial hand polydactyly, Ectopic ki... |
ORPHA:233 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty, Abnormal rib morphology, Anteriorly placed anus, Abnormal vertebral morpholog... |
ORPHA:280195 |
Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Short neck, Epispadias, Cryptorchidism, Rib fusion, Vertebral arch ... |
OMIM:148050 |
Orofaciodigital Syndrome Type 5 |
|
Aganglionic megacolon, Cleft soft palate, Ectopic accessory finger-like appendage, High, narrow p... |
ORPHA:2919 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Pes planus, Pelvic kidney, Pes valgus, Short palm, Dilatation of renal calices, Brachydactyly |
ORPHA:466943 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... |
OMIM:102510 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Scoliosis, Vesicoureteral reflux, Crossed fused ... |
OMIM:617466 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Submucous cleft hard ... |
OMIM:619103 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Inguinal hernia, Tapered toe, Tapered finger, Bilateral cryptorchidism, Celiac dis... |
ORPHA:544488 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Finger syndactyly, Atrial septal defect, Ventricular septal defect, Female pseudoher... |
ORPHA:1519 |
Lathosterolosis |
|
Toe syndactyly, Lumbosacral meningocele, Myelomeningocele, Postaxial hand polydactyly, Horseshoe ... |
OMIM:607330 |
Pelvic Lipomatosis With Crossed Renal Ectopia |
|
Ectopic kidney |
OMIM:169545 |
Gm1 Gangliosidosis |
|
Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Hyperlordosis, Kyphosis, Pat... |
ORPHA:354 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... |
OMIM:603194 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Esophagea... |
OMIM:314390 |
Neurotrophic Keratopathy |
|
Abnormal fifth cranial nerve morphology |
ORPHA:137596 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Hypergonadotropic hypogonadism, Ventricular septal defect, Renal ag... |
OMIM:227645 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Abnormality of the vertebral column, Bilateral cleft lip and palate |
OMIM:600776 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Ectopic kidney, Hydrocephalus, Tracheoesophageal fistula, Bifid thorac... |
ORPHA:268249 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... |
ORPHA:168549 |
Distal Deletion 12Q |
|
Short neck, Ectopic kidney, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of the ... |
ORPHA:96149 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Hypergonadotropic hypogonadism, Renal agenesis, Ectopic kidney, Abs... |
OMIM:227650 |
Triploidy |
|
Omphalocele, Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Short n... |
ORPHA:3376 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Hypospadias, Arachnodactyly, Coxa valga, Metaphyseal widening, Hip dislocation, Horseshoe kidney,... |
OMIM:620083 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Abnormal sternum mo... |
ORPHA:2911 |
Trisomy 13 |
|
Ventricular septal defect, Kyphosis, Postaxial hand polydactyly, Cryptorchidism, Abnormal rib mor... |
ORPHA:3378 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Hypoplasia of first ribs, Foot oligodactyly... |
OMIM:154400 |
Gastroschisis |
|
Gastroschisis, Intestinal atresia |
ORPHA:2368 |
Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Glossoptosis, Narrow chest, Short palm, Abnormal vertebral segmentation and... |
ORPHA:90652 |
Pseudoaminopterin Syndrome |
|
Pes planus, Brachydactyly, Overlapping toe, Postaxial polydactyly, Short thumb, Hydrocephalus, Sl... |
ORPHA:221120 |
Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Hypergonadotropic hypogonadism, Renal agenesis, Ectopic kidney, Abs... |
OMIM:600901 |
Trisomy 1Q |
|
Omphalocele, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of finge... |
ORPHA:261344 |
3Q29 Microdeletion Syndrome |
|
Hypospadias, Tapered finger, Horseshoe kidney, Six lumbar vertebrae, High palate, Subvalvular aor... |
ORPHA:65286 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Short neck, Abnormal form of the vertebral bodi... |
ORPHA:818 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Ambiguous genitalia, Renal agenesis, Unilateral renal agenesis, Ectopic kidn... |
OMIM:617641 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Optic atrophy, Diaphyseal thickening |
ORPHA:1513 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Cleft palate, Hi... |
OMIM:616038 |
Tarp Syndrome |
|
Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Horseshoe kidney, Cleft palate, Ton... |
ORPHA:2886 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand pol... |
ORPHA:474 |
Kinsship Syndrome |
|
Death in infancy, Sacral dimple, Pes planus, Short neck, Coxa valga, Hip dislocation, Renal hypop... |
OMIM:619297 |
Kabuki Syndrome 2 |
|
Prominent fingertip pads, Hip dislocation, Horseshoe kidney, Cleft palate, High palate, Short 5th... |
OMIM:300867 |
Holoprosencephaly |
|
Hypoplasia of penis, Short neck, Abnormal form of the vertebral bodies, Holoprosencephaly, Enceph... |
ORPHA:2162 |
Sacral Defect With Anterior Meningocele |
|
Back pain, Myeloschisis, Absence of the sacrum, Hemisacrum, Neurogenic bladder, Myelomeningocele,... |
OMIM:600145 |
Currarino Syndrome |
|
Absence of the sacrum, Neurogenic bladder, Hemisacrum, Recurrent urinary tract infections, Urinar... |
OMIM:176450 |
Short-Rib Thoracic Dysplasia 12 |
|
Short neck, Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narrow chest, Holoprosencep... |
OMIM:269860 |
Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele, Aplasia of the vagina, Supernumerary ribs, Supernumerary vertebra... |
OMIM:193500 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Hypospadias, Lower limb asymmetry, High, narrow palate, Horseshoe kidney, Abnormal he... |
ORPHA:96182 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Meningocele, Short neck |
ORPHA:3456 |
White Forelock With Malformations |
|
Finger syndactyly, Atrial septal defect, Abnormal rib morphology, Clinodactyly of the 5th finger,... |
ORPHA:2475 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Sacral dimple, Broad hallux phalanx, Abnormal penis morphology,... |
ORPHA:2211 |
Neurofibromatosis, Type I |
|
Spina bifida, Pectus excavatum, Aqueductal stenosis, Hydrocephalus, Neurofibroma, Tibial pseudart... |
OMIM:162200 |
Meacham Syndrome |
|
Atrial septal defect, Hypoplasia of penis, Ventricular septal defect, Situs inversus totalis, Cry... |
ORPHA:3097 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
External genital hypoplasia, Short neck, Hemivertebrae, Tibial bowing, Narrow chest, Atrial septa... |
ORPHA:96334 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Ectopic kidney, Patent ductus arteriosus, Hypoplasia of the radius, ... |
OMIM:617247 |
Chops Syndrome |
|
Ventricular septal defect, High, narrow palate, Anomalous pulmonary venous return, Horseshoe kidn... |
OMIM:616368 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hyperphosphaturia, Kyphoscoliosis, Abnormal toe morphology, Abnormal finger morphology, Horseshoe... |
OMIM:163200 |
15q26 overgrowth syndrome |
|
Long toe, Renal agenesis, Abnormality of the kidney, Arachnodactyly, Short neck, Tapered finger, ... |
DECIPHER:81 |
Diamond-Blackfan Anemia 10 |
|
Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Cleft palate, Supernumerary ... |
OMIM:613309 |
Achondrogenesis Type 1B |
|
Femoral hernia, Micromelia, Short neck, Short thorax, Abnormal rib morphology, Short foot, Narrow... |
ORPHA:93298 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Septo-optic dysplasia, Short fourth metatarsal, Fetal pyelectasis, M... |
OMIM:619841 |
Tetrasomy 9P |
|
Short neck, High palate, Clinodactyly of the 5th finger, Micropenis, Patent foramen ovale, Bifid ... |
ORPHA:3310 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Ventricular septal defect, Metaphyseal ch... |
OMIM:250410 |
Mucopolysaccharidosis, Type Ivb |
|
Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Coxa valga, Hypoplasia of the odontoid pr... |
OMIM:253010 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Triphalangeal thumb, Atrial septal defect, Atrioventricular canal d... |
ORPHA:392 |
Neu-Laxova Syndrome |
|
External genital hypoplasia, Spina bifida, Micromelia, Submucous cleft hard palate, Cleft palate,... |
ORPHA:2671 |
Igg4-Related Ophthalmic Disease |
|
Abnormal fifth cranial nerve morphology, Abnormality of the kidney, Abnormality of infra-orbital ... |
ORPHA:449563 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Arachnodactyly, Hypospadias, Kyphoscoliosis, Ectopic kidney, Pectus excavatum, Kyphosis... |
ORPHA:3063 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis,... |
ORPHA:2522 |
Rubinstein-Taybi Syndrome 1 |
|
Plantar crease between first and second toes, Premature thelarche, Bilateral cryptorchidism, High... |
OMIM:180849 |
3Mc Syndrome 2 |
|
Hypospadias, Hip dislocation, Horseshoe kidney, Cleft palate, Radioulnar synostosis, Abnormality ... |
OMIM:265050 |
Cardiospondylocarpofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect, Tarsal synostosis, Muscular ventricular septal d... |
OMIM:157800 |
Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Myelomenin... |
ORPHA:2876 |
3Mc Syndrome 3 |
|
Sacral dimple, Clinodactyly, Preaxial polydactyly, Cleft palate, Horseshoe kidney, Radioulnar syn... |
OMIM:248340 |
Melnick-Needles Syndrome |
|
Omphalocele, Bowing of the long bones, Coxa valga, Short thorax, Abnormal rib morphology, Hip dis... |
ORPHA:2484 |
Pentalogy Of Cantrell |
|
Encephalocele, Omphalocele, Hypospadias, Talipes, Abnormal pericardium morphology, Ventricular se... |
ORPHA:1335 |
Mend Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Kyphosis, Long fingers, Hydrocephalus, Cryptorchidi... |
OMIM:300960 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology, Ambiguous genitalia, Tetralog... |
ORPHA:276422 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anterior... |
OMIM:305600 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Short neck, Calcaneovalgus deformity, Neonatal death, Patent foramen ovale, Finger sy... |
OMIM:256520 |
Vitamin K Antagonist Embryofetopathy |
|
Brachydactyly, Short neck, Myelomeningocele, Hydrocephalus, Punctate vertebral calcifications, Ma... |
ORPHA:1914 |
Cog1-Cdg |
|
Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Coxa valga, Rib fusion,... |
ORPHA:263508 |
Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Bla... |
OMIM:600057 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Micromelia, Cryptorchidism, Abnormal rib morpholo... |
ORPHA:2772 |
Radial-Renal Syndrome |
|
Absent radius, Ectopic kidney, Unilateral renal agenesis, Absent thumb |
OMIM:179280 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Tethered cord, Sandal gap, Macrodactyly, Lower limb asymmetry, Renal hypoplasia, Spinal dysraphis... |
OMIM:612918 |
Charge Syndrome |
|
Talipes, Aqueductal stenosis, Abnormal soft palate morphology, Abnormal tibia morphology, Hemiver... |
ORPHA:138 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Hydrocephalus, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral... |
ORPHA:2180 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosi... |
ORPHA:3082 |
Netherton Syndrome |
|
Aminoaciduria, Malabsorption, Hydronephrosis, Ectopic kidney |
ORPHA:634 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Ab... |
ORPHA:1488 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Short neck, Ectopic kidney, High, narrow palate, Enlarged thorax, Inflamma... |
ORPHA:99413 |
Turner Syndrome |
|
Bicuspid aortic valve, Short neck, Ectopic kidney, High, narrow palate, Enlarged thorax, Inflamma... |
ORPHA:881 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Short neck, Ectopic kidney, High, narrow palate, Enlarged thorax, Inflamma... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Short neck, Ectopic kidney, High, narrow palate, Enlarged thorax, Inflamma... |
ORPHA:99226 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Atrial septal defect, Ventricular septal defect, Renal hypoplasia/aplasia... |
ORPHA:52 |
Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney |
OMIM:266810 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Short femur, Fractured radius, Hypospadias, Ventricular septal defect, Sh... |
OMIM:616897 |
Faciocardiorenal Syndrome |
|
Cleft palate, Horseshoe kidney, Tricuspid valve prolapse, Endocardial fibroelastosis |
ORPHA:1973 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Neurogenic bladder, Tethered cord, Bicuspid aortic valve, Ventricular septal de... |
OMIM:130720 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finger, Micromelia, Prox... |
ORPHA:628 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormal rib morphology, Tracheoesophageal fistula, Abnor... |
ORPHA:93941 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Tethered cord, Spina bifida, Tapered finger, Patent ductus arteriosus, Unilateral facial palsy, S... |
OMIM:619480 |
Charge Syndrome |
|
Secundum atrial septal defect, Hemivertebrae, Hand monodactyly, Holoprosencephaly, Atrial septal ... |
OMIM:214800 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Arachnodactyly, Optic nerve hypoplasia, Kyphoscoliosis, Absent thumb, Unila... |
ORPHA:500150 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Intestinal m... |
ORPHA:3035 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Septo-optic dysplasia, Multicystic kidney dysplasia, Missing ribs,... |
ORPHA:3301 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Mucopolysaccharidosis, Type Iiia |
|
Inguinal hernia, Thickened ribs, Heparan sulfate excretion in urine, Ovoid thoracolumbar vertebra... |
OMIM:252900 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Myelomeningocele, Pulmonic stenosis, Scoliosis, Contracture of the proximal interphalangeal joint... |
OMIM:620141 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypoplasia of penis, Small scrotum, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal ... |
ORPHA:2234 |
Hennekam Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Ectopic kidney, Pericardial effusion, Abnormal foot m... |
ORPHA:2136 |
Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal localization of kidney, Hydronephrosi... |
ORPHA:195 |
Roberts-Sc Phocomelia Syndrome |
|
Short neck, Knee flexion contracture, High palate, Atrial septal defect, Syndactyly, Hypoplasia o... |
OMIM:268300 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ... |
ORPHA:1772 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Hypospadias, Patent foramen ovale, Small hand, Horseshoe kidney, Abnor... |
ORPHA:444077 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Ovoid vertebral bodies,... |
ORPHA:1517 |
Dextrocardia |
|
Congenital hip dislocation, Dextrocardia, Intestinal malrotation, Abnormal reproductive system mo... |
ORPHA:1666 |
Humero-Radial Synostosis |
|
Aplasia/Hypoplasia of the thumb, Meningocele, Tarsal synostosis |
ORPHA:3265 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Cervical cord compression, Atrial septal defect, Hypoplastic cervical vertebra... |
ORPHA:79345 |
Kabuki Syndrome 1 |
|
Congenital hip dislocation, Premature thelarche, High palate, Atrial septal defect, Prominent fin... |
OMIM:147920 |
Isolated Posterior Meningocele |
|
Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Absent Achilles reflex,... |
ORPHA:268810 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormality of the kidney, Unilateral renal agenesis, Short neck, Abnormal rib morphology, Cleft ... |
OMIM:118100 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Ventricular septal defect, Cryptorchidism, Hy... |
ORPHA:77298 |
Matthew-Wood Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis |
ORPHA:2470 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow chest, Short tibia, Encephalocele, Rhi... |
OMIM:616300 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Facial palsy, Hyperlordosis, Abnormal rib mor... |
ORPHA:3068 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Block vertebrae, Ventricular septal defect... |
OMIM:164210 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Thickened aortic valve cusp, Spatulate ribs, Hyperlordosis, Broad clav... |
OMIM:619698 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, P... |
ORPHA:93111 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Short metacarpal, Micromelia, Abnormal rib morphology, Abnormal carpal morphology, Sh... |
ORPHA:93351 |
Fibrochondrogenesis 1 |
|
Short neck, Short palm, Clinodactyly of the 5th finger, Patent foramen ovale, Posterior vertebral... |
OMIM:228520 |
Coffin-Siris Syndrome |
|
Ventricular septal defect, Hypospadias, Horseshoe kidney, Abnormal heart morphology, Short 5th fi... |
ORPHA:1465 |
C Syndrome |
|
Death in infancy, Sacral dimple, Multicystic kidney dysplasia, Toe syndactyly, Talipes, Micromeli... |
ORPHA:1308 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy... |
OMIM:613091 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, C... |
ORPHA:582 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Abnormal heart valve morphology, Camptodactyly of finger, Short nec... |
ORPHA:93473 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Pectus carinatum, Broad ribs, Anterior wedging of L1, Lumbar hyperlordosis,... |
OMIM:253200 |
Diamond-Blackfan Anemia |
|
Ventricular septal defect, Hypospadias, Renal agenesis, Short neck, Cleft soft palate, Short thum... |
ORPHA:124 |
Coffin-Siris Syndrome 12 |
|
Hypospadias, Celiac disease, Short thumb, Velopharyngeal insufficiency, Submucous cleft hard pala... |
OMIM:619325 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect, Clinodactyly, Anal atresia, Cutaneous syndactyly |
OMIM:119580 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor... |
ORPHA:1836 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Short neck, Hemivertebrae, Pectus carinatum, High palate, Hypoplasi... |
ORPHA:958 |
Osteopathia Striata With Cranial Sclerosis |
|
Osteopathia striata, High palate, Atrial septal defect, Clinodactyly of the 5th finger, Broad rib... |
OMIM:300373 |
Renpenning Syndrome |
|
Hypospadias, Pectus excavatum, Abnormal thumb morphology, High, narrow palate, Abnormal rib morph... |
ORPHA:3242 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Meningocele, Rena... |
OMIM:614424 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Inguinal hernia, Short femur, Metaphyseal spurs, Unilateral renal ag... |
OMIM:618188 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Short neck, High, narrow p... |
ORPHA:373 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Ventricular septal defect, Diastasis recti, Large placenta, Abnormal heart morpholog... |
ORPHA:254534 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Hyperlordosis, Short neck, Kyphosis, High, narrow palate, Meningocele,... |
ORPHA:2789 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Talipes, Micromelia, Short neck, Ap... |
ORPHA:2879 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Meningocele, Renal cyst, Glossoptosis, Clinodactyly of the 5th finger |
ORPHA:2031 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Genu recurvatum, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, High palate, Disl... |
OMIM:182212 |
Neurocutaneous Melanocytosis |
|
Death in infancy, Meningocele, Renal hypoplasia/aplasia |
ORPHA:2481 |
Alg3-Cdg |
|
Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Macroglossia, Neural tube defect, Ca... |
ORPHA:79321 |
Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib ... |
ORPHA:2021 |
Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Thoracic scoliosis, Short femur, Rhizomelia, Bowing of the long bones, Mi... |
OMIM:613848 |
Frontometaphyseal Dysplasia 1 |
|
Knee flexion contracture, Increased density of long bone diaphyses, High palate, Dislocated radia... |
OMIM:305620 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Abnormality of the upper urinary tract, Abnormality of the urethra... |
ORPHA:2145 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, High, narrow palate, Femoral bowing, Anteriorly placed anus, Abnormal ovarian... |
ORPHA:95699 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Narrow chest, Atrial septal defect, ... |
OMIM:263520 |
Duplication Of Urethra |
|
Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... |
ORPHA:237 |
Bent Bone Dysplasia Syndrome 2 |
|
Atrial septal defect, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Thin ... |
OMIM:620076 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Hypoplastic vertebral bodies, Hypoplasia of the calcaneus, Narrow chest,... |
OMIM:215140 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Short neck, Bowing of the legs, ... |
OMIM:200600 |
Dysosteosclerosis |
|
Sclerotic scapulae, Increased intervertebral space, Optic atrophy, Abnormal metaphyseal trabecula... |
OMIM:224300 |
Myhre Syndrome |
|
Abnormal penis morphology, Inguinal hernia, Hypospadias, External genital hypoplasia, Femoral her... |
ORPHA:2588 |
Orofaciodigital Syndrome Vi |
|
Tibial bowing, Lobulated tongue, High palate, Hamartoma of tongue, Central Y-shaped metacarpal, O... |
OMIM:277170 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hamartoma of tongue, Short neck, Micromelia, Postaxial polydactyly, Hydrocephalus, Anencephaly, P... |
OMIM:616546 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb morphology, High, na... |
ORPHA:1452 |
Schwartz-Jampel Syndrome |
|
Micromelia, Short neck, Coxa vara, Pectus carinatum, High palate, Abnormally ossified vertebrae, ... |
ORPHA:800 |
Acrorenal-Mandibular Syndrome |
|
Hemivertebrae, Aplasia of the bladder, High palate, Narrow chest, Hypoplasia of the ulna, Split h... |
OMIM:200980 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Aplasia/Hypoplasia of the tongue, Missing ribs, Abnormal rib morphology, Hemivert... |
ORPHA:2759 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... |
ORPHA:989 |
46,Xy Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Inguinal her... |
ORPHA:325345 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Omphalocele, Inguinal hernia, Overlapping toe, Diastasis recti, Pectus excavatum, Large... |
ORPHA:254528 |
Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Bowing of the long bones, Multicystic kidney dysplasia, Micromelia... |
ORPHA:1318 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Cryptorchidism, Postaxial hand polydactyly, Patent ductus arteriosus, ... |
ORPHA:2519 |
Mosaic Trisomy 8 |
|
Decreased testicular size, Camptodactyly of finger, Short neck, Cryptorchidism, Patellar aplasia,... |
ORPHA:96061 |
White-Kernohan Syndrome |
|
Hydroureter, Horseshoe kidney, Anteriorly placed anus, Rectovaginal fistula, Hydronephrosis |
OMIM:619426 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Proximal placement of thumb, Short neck, Renal cyst, Atrial ... |
OMIM:229850 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Short neck, Renal cyst, Tibial bowing, Anteriorly placed anus, High... |
ORPHA:798 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Inguinal hernia, Cardiomegaly, Avascular necrosis of the capital fe... |
ORPHA:581 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Small cervical vertebral bodies, Renal insufficiency, Hypospadias, Abnor... |
ORPHA:397715 |
Monosomy 9Q22.3 |
|
Ovarian fibroma, Short neck, Pectus excavatum, Kyphosis, Hydrocephalus, Plantar pits, Abnormal ri... |
ORPHA:77301 |
Osteogenesis Imperfecta |
|
Cervical kyphosis, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal for... |
ORPHA:666 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele, Hip dislocation, Lower limb asymmetry, Bilateral cleft lip and palate |
ORPHA:2003 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Malabsorption, Enter... |
ORPHA:95427 |
Trisomy 8Q |
|
Hypoplasia of penis, Camptodactyly of finger, Short neck, Myelomeningocele, Cleft palate, High pa... |
ORPHA:1752 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Inguinal hernia, Small scrotum, Arachnodactyly, Camptodactyly of finger, Taper... |
ORPHA:2215 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Postaxial hand polydactyly, Patent ductus arteriosus, Hydrometrocolpos, Ap... |
OMIM:617088 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Anteriorly displaced ... |
OMIM:276820 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hypospadias, Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Vesicovaginal fistula, Ulnar ... |
OMIM:201750 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele, Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyly, ... |
ORPHA:1827 |
Grant Syndrome |
|
Bowing of the long bones, Abnormal rib morphology, Narrow chest, Sprengel anomaly, Abnormality of... |
ORPHA:2097 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Bowing of the long bones, Kyphosis, Abnormal rib morphology, Abnorma... |
ORPHA:2050 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Micromelia, Short neck, Renal hypoplasia/aplasia, H... |
ORPHA:3015 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:1647 |
Curry-Jones Syndrome |
|
Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Duplication of thumb phalan... |
OMIM:601707 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Anal atresia, Postaxial polydactyly, Short neck, Lateral clavicle hook, Septate vagina, Complete ... |
OMIM:617925 |
Occipital Horn Syndrome |
|
Short humerus, Orthostatic hypotension, Pes planus, Broad clavicles, Pectus excavatum, Kyphosis, ... |
OMIM:304150 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Hypospadias, Ventricular septal defect, Ovotestis, Hydrocephalus, Cleft palate,... |
OMIM:309801 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue, Ren... |
ORPHA:2167 |
Dyskeratosis Congenita, X-Linked |
|
Hypospadias, Phimosis, Esophageal stricture, Urethral stenosis, Horseshoe kidney, Oral leukoplaki... |
OMIM:305000 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Short neck, Abnormal rib morphology, Small hand, Short foot, Micropenis, Spina bifida occulta, Br... |
ORPHA:488434 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Brachydactyly |
ORPHA:2643 |
Arima Syndrome |
|
Proteinuria, Polyuria, Postaxial hand polydactyly, Esophageal varix, Stage 5 chronic kidney disea... |
OMIM:243910 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck |
ORPHA:1486 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Bifid scrotum, Finger syndactyly, Toe syndactyly, Small scrotum, Cryptorchidism, Split hand, Abno... |
ORPHA:1300 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Renal agenesis, Absent external genitalia, Hydrocephalus, Cleft... |
OMIM:273395 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Cleft palate |
OMIM:602196 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Bo... |
OMIM:211350 |
Hypophosphatasia |
|
Bowing of the long bones, Abnormal rib morphology, Narrow chest, Abnormal metaphysis morphology |
ORPHA:436 |
Necrotizing Enterocolitis |
|
Gastroschisis, Abnormal heart morphology |
ORPHA:391673 |
Ulbright-Hodes Syndrome |
|
Short neck, Ovoid thoracolumbar vertebrae, High palate, Abnormal penis morphology, Short metacarp... |
ORPHA:3404 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Talipes, Abnormal renal morphology, Abnormal rib morphol... |
ORPHA:83 |
Oculocerebrorenal Syndrome Of Lowe |
|
Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomerulopathy, Cryptorchidism, Abnormal rib... |
ORPHA:534 |
Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Unilateral renal agenesis, Vertebral clefting, Neonatal death, Abnormal ve... |
OMIM:615709 |
Tetragametic Chimerism |
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Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
46,Xx Sex Reversal 4 |
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Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
Aspergillosis |
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Abnormality of the vertebral column, Abnormal rib morphology, Abnormality of the kidney, Abnormal... |
ORPHA:1163 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Short metacarpal, Abnormal scapula morphology, Metaphyseal chondrodysplasia, Myocarditis, Abnorma... |
ORPHA:93317 |
Colonic Atresia |
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Omphalocele, Peptic ulcer, Duodenal stenosis, Gastroschisis, Colonic atresia |
ORPHA:1198 |
Fibrous Dysplasia Of Bone |
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Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Precoc... |
ORPHA:249 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
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Hypoplasia of the bladder, Ventricular septal defect, Hypospadias, Renal agenesis, Ovotestis, Cle... |
OMIM:611812 |
Alagille Syndrome 1 |
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Duplicated collecting system, Hypoplasia of the ulna, Atrial septal defect, Ventricular septal de... |
OMIM:118450 |
Monosomy 9P |
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Hypospadias, Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Cryptorchi... |
ORPHA:261112 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
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Abnormal rib morphology |
ORPHA:1506 |
Autosomal Recessive Malignant Osteopetrosis |
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Bowing of the long bones, Abnormal pulmonary valve morphology, Hydrocephalus, Abnormal rib morpho... |
ORPHA:667 |
Familial Osteodysplasia, Anderson Type |
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Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... |
ORPHA:2769 |
Ear-Patella-Short Stature Syndrome |
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Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Aplastic clavicle, Epispadias, Cryptor... |
ORPHA:2554 |
Marfan Syndrome |
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Pes planus, Mitral valve calcification, Arachnodactyly, Protrusio acetabuli, Kyphosis, High, narr... |
ORPHA:558 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Hypospadias, External genital hypoplasia, Ovotestis, Palmoplantar keratoderma, Palmoplantar hyper... |
OMIM:610644 |
Knobloch Syndrome 1 |
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Duplicated collecting system, Occipital encephalocele, Pyloric stenosis, Bifid ureter, Occipital ... |
OMIM:267750 |
Holoprosencephaly 7 |
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Bilateral cleft palate, Median cleft lip and palate, Alobar holoprosencephaly, Hydrocephalus, Cle... |
OMIM:610828 |
Hereditary Acrokeratotic Poikiloderma |
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Finger syndactyly, Camptodactyly of finger, Abnormal preputium morphology, Abnormality of the ure... |
ORPHA:2907 |
46,Xx Sex Reversal 2 |
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Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
46,Xx Sex Reversal 1 |
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True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito... |
OMIM:400045 |
Kindler Epidermolysis Bullosa |
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Urethral stricture, Finger syndactyly, Camptodactyly of finger, Phimosis, Esophageal stricture, A... |
ORPHA:2908 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
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Flexion contracture of finger, Meningocele, Palmoplantar keratoderma |
ORPHA:1010 |
Thoracic Outlet Syndrome |
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Abnormal rib morphology |
ORPHA:97330 |
Semilobar Holoprosencephaly |
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Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Neural tube defect, High... |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Neural tube defect, High... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Neural tube defect, High... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Neural tube defect, High... |
ORPHA:93924 |