Fibrochondrogenesis 1 |
|
Cleft palate, Depressed nasal bridge, Short neck, Platyspondyly, Rhizomelia, Short nose, Dumbbell... |
OMIM:228520 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Apnea, Hypoplasia of the radius, Cutis marmorata, Depressed nasal bridge, Short neck, Wafer-thin ... |
OMIM:602613 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Pectus excavatum, Prominent sternum, 11 pairs of ribs, Short nose, Sandal gap, Clino... |
OMIM:617877 |
Schneckenbecken Dysplasia |
|
Macrocephaly, Cleft palate, Short neck, Platyspondyly, Short nose, Ovoid vertebral bodies, Dumbbe... |
OMIM:269250 |
Femoral-Facial Syndrome |
|
Cleft palate, Long penis, Radioulnar synostosis, Abnormality of fibula morphology, Short nose, Sp... |
ORPHA:1988 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
Dysosteosclerosis |
|
High palate, Short sternum, Osteopenia, Platyspondyly, Delayed eruption of teeth, Optic atrophy, ... |
OMIM:224300 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Pectus excavatum, Cleft palate, Broad nasal tip, Hypoplasia of the capital femoral epiphysis, Rhi... |
OMIM:601560 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
High palate, Irregular vertebral endplates, Flexion contracture, Micrognathia, Osteopenia, Short ... |
OMIM:222765 |
Tarp Syndrome |
|
High palate, Pectus excavatum, Short sternum, Cleft palate, Hypoplasia of the radius, Cutaneous s... |
OMIM:311900 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Atrioventricular canal defect, Postaxial polydactyly, Short philtrum, Di... |
OMIM:619142 |
Cleidocranial Dysplasia |
|
Macrocephaly, Cleft palate, Abnormality of the dentition, Depressed nasal bridge, Down-sloping sh... |
ORPHA:1452 |
Frank-Ter Haar Syndrome |
|
High palate, Wide mouth, Pectus excavatum, Osteopenia, Broad nasal tip, Depressed nasal bridge, H... |
OMIM:249420 |
Short Rib-Polydactyly Syndrome |
|
Cleft palate, Depressed nasal bridge, Cone-shaped epiphysis, Micromelia, Bowing of the long bones... |
ORPHA:1505 |
Tarp Syndrome |
|
Apnea, Pectus excavatum, Short sternum, Cleft palate, Optic atrophy, Single transverse palmar cre... |
ORPHA:2886 |
Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Secundum atrial septal defect, Cleft palate, Micrognathia, Cyanosis, Microcephaly,... |
ORPHA:2257 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Cleft palate, Depressed nasal bridge, Short neck, 11 pairs of rib... |
OMIM:108720 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... |
OMIM:223800 |
Cornelia De Lange Syndrome 1 |
|
High palate, Malrotation of colon, Short sternum, Hiatus hernia, Cleft palate, Hypoplasia of the ... |
OMIM:122470 |
3M Syndrome |
|
Bulbous nose, Congenital hip dislocation, Micromelia, Delayed eruption of teeth, Short neck, Hypo... |
ORPHA:2616 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
High palate, Pectus excavatum, Abnormality of the dentition, Tapered finger, Short nose, Primary ... |
ORPHA:476126 |
Marshall-Smith Syndrome |
|
High palate, Apnea, Airway obstruction, Pectus excavatum, Short sternum, Slender finger, Prominen... |
OMIM:602535 |
Acrodysostosis |
|
Depressed nasal ridge, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped epiphysis, M... |
ORPHA:950 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short 1st metacarpal, Cone-shaped epiphysis, Microdontia, Proximal femoral epiphysiolysis, Intrau... |
OMIM:210720 |
Acro-Renal-Mandibular Syndrome |
|
High palate, Abnormal clavicle morphology, Aplasia/Hypoplasia of the tongue, Hypoplasia of the ra... |
ORPHA:958 |
Campomelic Dysplasia |
|
High palate, Poorly ossified cervical vertebrae, Respiratory distress, Apnea, Macrocephaly, Cleft... |
OMIM:114290 |
Multiple Synostoses Syndrome 1 |
|
Pectus excavatum, Short sternum, Hypoplastic nasal septum, Clinodactyly of the 4th toe, Short phi... |
OMIM:186500 |
Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Hypoplasia of the radius, Depressed nasal bridge, Barrel-shaped chest, Short ... |
OMIM:200600 |
Platyspondylic Dysplasia, Torrance Type |
|
Narrow chest, Short distal phalanx of finger, Disproportionate short-limb short stature, Metaphys... |
ORPHA:85166 |
Renal Dysplasia-Limb Defects Syndrome |
|
High palate, Respiratory distress, Short sternum, Hypoplasia of the radius, Depressed nasal bridg... |
OMIM:266910 |
Sandestig-Stefanova Syndrome |
|
High palate, Convex nasal ridge, Muscular ventricular septal defect, Retrognathia, Short neck, Bi... |
OMIM:618804 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Anomalous pulmonary venous return, Macrocephaly, Cleft palate, Depressed nasal bridge, Short neck... |
ORPHA:2311 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Cleft palate, Uterus didelphys, Decreased calvarial ossification, Short neck, Depressed nasal bri... |
OMIM:617925 |
Catel-Manzke Syndrome |
|
Joint stiffness, Pectus excavatum, Atrial septal defect, Clinodactyly of the 5th finger, Malar fl... |
ORPHA:1388 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Cleft upper lip, 2-3 toe syndactyly, Atrial septal defect, Secundum atrial septal defect, Cleft p... |
OMIM:600987 |
Hamamy Syndrome |
|
High palate, Wide mouth, Pectus excavatum, Craniosynostosis, Osteopenia, Down-sloping shoulders, ... |
OMIM:611174 |
Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Macrocephaly, Severe short stature, Cleft palate, Microcephaly, Sh... |
ORPHA:1797 |
Osteoglophonic Dysplasia |
|
High palate, Respiratory distress, Broad phalanx, Craniosynostosis, Depressed nasal bridge, Short... |
OMIM:166250 |
Ritscher-Schinzel Syndrome 3 |
|
Wide anterior fontanel, Relative macrocephaly, Shortening of all distal phalanges of the fingers,... |
OMIM:619135 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
High palate, Dislocated radial head, Narrow mouth, Talipes equinovarus, Malar flattening, Short s... |
OMIM:602471 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Delayed epiphyseal ossification, Dislocated radial head, Abnormal sternum morphology, Epiphyseal ... |
ORPHA:166016 |
Cousin Syndrome |
|
Ambiguous genitalia, female, Cleft palate, Rhizomelia, Absent proximal finger flexion creases, Cl... |
OMIM:260660 |
Monosomy 18Q |
|
High palate, Wide mouth, Bulbous nose, Pectus excavatum, Depressed nasal bridge, Short philtrum, ... |
ORPHA:1600 |
Meier-Gorlin Syndrome 7 |
|
High palate, Cleft palate, Craniosynostosis, Ventricular septal defect, Sagittal craniosynostosis... |
OMIM:617063 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, External genital hypoplasia, M... |
ORPHA:96334 |
Van Den Ende-Gupta Syndrome |
|
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Femoral bowing, Depressed nasal br... |
OMIM:600920 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Facial diplegia, Perisylvian polymicrogyria, 2-3 toe syndactyly, Secundum atrial septal defect, A... |
OMIM:619121 |
Short-Rib Thoracic Dysplasia 12 |
|
Macrocephaly, Short neck, Anencephaly, Lobulated tongue, Ventricular septal defect, Ambiguous gen... |
OMIM:269860 |
Autosomal Recessive Robinow Syndrome |
|
Wide mouth, Pectus excavatum, Macrocephaly, Abnormality of the dentition, Short philtrum, Short n... |
ORPHA:1507 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Narrow chest, Cleft palate, Short femur, Glossoptosis, Micrognathia, Femoral bowing, Metaphyseal ... |
ORPHA:440354 |
Lethal Faciocardiomelic Dysplasia |
|
Narrow mouth, Microretrognathia, Hypoplastic left heart, Hypoplasia of the radius, Radial club ha... |
ORPHA:1972 |
17Q21.31 Microduplication Syndrome |
|
High palate, Clinodactyly of the 5th finger, Malar flattening, Micrognathia, Abnormality of the d... |
ORPHA:217340 |
Holt-Oram Syndrome |
|
Pectus excavatum, Absent thumb, Hypoplasia of the radius, Finger clinodactyly, Ventricular septal... |
OMIM:142900 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Butterfly vertebrae, Talipes equinovarus, Micropenis, Short ribs, Hypospadias, Short philtrum, Hy... |
OMIM:607143 |
Cleidocranial Dysplasia 1 |
|
High palate, Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Cleft pala... |
OMIM:119600 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Wide mouth, Pectus excavatum, Macrocephaly, Triangular mouth, Hypoplastic sacrum, Hypoplasia of t... |
OMIM:268310 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Muscular ventricular septal defect, Abnormality of the dentition, Long nose, Carious teeth, Abnor... |
ORPHA:363444 |
Momo Syndrome |
|
High palate, Dental malocclusion, Thick upper lip vermilion, Taurodontia, Short sternum, Abnormal... |
ORPHA:2563 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Cleft palate, Aplasia/hypoplasia involving bones of the extremities, Hip ... |
ORPHA:1856 |
Smith-Mccort Dysplasia 1 |
|
Prominent sternum, Barrel-shaped chest, Platyspondyly, Disproportionate short-trunk short stature... |
OMIM:607326 |
Turnpenny-Fry Syndrome |
|
Tricuspid valve prolapse, High palate, Pectus excavatum, Short sternum, Abnormality of the dentit... |
OMIM:618371 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Macrocephaly, Cleft palate, Femoral bowing, Depressed nasal b... |
ORPHA:140 |
Omodysplasia 2 |
|
Dislocated radial head, Micropenis, Hypospadias, Short 1st metacarpal, Short humerus, Long philtr... |
OMIM:164745 |
Crane-Heise Syndrome |
|
Short distal phalanx of finger, Joint stiffness, Talipes equinovarus, Hypoplasia of penis, Cleft ... |
ORPHA:1512 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Abnormal cardiac septum morphology, Depressed nasal bridge, Congenital hip dislocation, Single tr... |
OMIM:308050 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Micromelia, ... |
OMIM:250215 |
Chromosome 9P Deletion Syndrome |
|
High palate, Clinodactyly of the 4th toe, Depressed nasal bridge, Short neck, Tapered finger, Ven... |
OMIM:158170 |
Autosomal Dominant Omodysplasia |
|
Hypoplasia of penis, Malar flattening, Bifid scrotum, Micrognathia, Short 1st metacarpal, Short h... |
ORPHA:93328 |
Robinow Syndrome |
|
Tricuspid atresia, Macrocephaly, External genital hypoplasia, Triangular mouth, Broad alveolar ri... |
ORPHA:97360 |
Diamond-Blackfan Anemia 7 |
|
Sprengel anomaly, Secundum atrial septal defect, Cleft palate, Osteopenia, Scoliosis, Osteoporosi... |
OMIM:612562 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of penis, Micrognathia, Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phal... |
ORPHA:2256 |
Atelosteogenesis, Type Ii |
|
Cleft palate, Horizontal sacrum, Depressed nasal bridge, Short neck, Micromelia, Platyspondyly, S... |
OMIM:256050 |
Fibrochondrogenesis |
|
Narrow chest, Narrow mouth, Wide anterior fontanel, Cleft palate, Short ribs, Short stature, Depr... |
ORPHA:2021 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Micrognathia, Respiratory insufficiency, Syndactyly, Neonatal death, Ventricular septal defect, H... |
OMIM:228940 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
High palate, Pectus excavatum, Craniosynostosis, Hypoplasia of the radius, Short neck, Clitoral h... |
OMIM:609945 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal mitral valve morphology, Tooth agenesis, Convex nasal ridge, Micrognathia, Brachydactyly... |
ORPHA:1277 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Short stature, Abnormality of the dentition, Microcephaly, Scolio... |
ORPHA:3268 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the radius, Short philtrum, Micromelia, Radioulnar synostosis, Hypoplasia of the ul... |
ORPHA:3258 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Femoral bowing, Short neck, 11 pairs of ribs, Micromelia, Platyspondyly, Single transverse palmar... |
OMIM:210710 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Gingival overgrowth, Depressed nasal ridge, Retrognathia, Micrognathia, Mic... |
ORPHA:1832 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 4 |
|
Kyphosis, 2-3 toe syndactyly, Secundum atrial septal defect, Micropenis, Everted upper lip vermil... |
OMIM:619951 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Temporomandibular joint ankylosis, Cleft palate, Aspiration pneumonia, Micr... |
ORPHA:141152 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Macrocephaly, Platyspon... |
OMIM:184260 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Cleft palate, Micrognathia, Hypoplastic distal segments of scapulae, Abnormal r... |
OMIM:602196 |
Sternum, Premature Obliteration Of Sutures Of |
|
Short sternum, Micrognathia, Premature sternal synostosis, Cryptorchidism, Abnormal heart morphology |
OMIM:184800 |
Cerebrocostomandibular Syndrome |
|
High palate, Rib gap, Abnormality of the dentition, Congenital hip dislocation, 11 pairs of ribs,... |
OMIM:117650 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Depressed nasal ridge, Short humerus, Brachydactyly, Abnormal ... |
ORPHA:2831 |
Femoral-Facial Syndrome |
|
Cleft palate, Short fourth metatarsal, Hemivertebrae, Radioulnar synostosis, Ventricular septal d... |
OMIM:134780 |
Ulbright-Hodes Syndrome |
|
High palate, Aplasia/Hypoplasia of the ulna, Respiratory distress, Short sternum, Abnormal extern... |
ORPHA:3404 |
Baller-Gerold Syndrome |
|
High palate, Cleft palate, Hypoplasia of the radius, Polymicrogyria, Hypoplasia of the ulna, Opti... |
OMIM:218600 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal cardiac septum morphology, Narrow mouth, Clinodactyly of the 5th finger, Short stature, ... |
ORPHA:2370 |
Distal Trisomy 5Q |
|
Narrow mouth, Absent thumb, Short stature, Thin vermilion border, Hypospadias, Micrognathia, Cran... |
ORPHA:96097 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Narrow mouth, Secundum atrial septal defect, Cleft palate, Tracheomalacia, ... |
OMIM:202650 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
High palate, Cleft palate, Short uvula, Micromelia, Microdontia, Bowing of the long bones, Short ... |
OMIM:614091 |
Codas Syndrome |
|
Atrioventricular canal defect, Depressed nasal bridge, Congenital hip dislocation, Delayed erupti... |
OMIM:600373 |
Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Cleft upper lip, Anal atresia, 2-3 toe syndactyly, Atrial septal defect, Bicor... |
OMIM:264480 |
Thanatophoric Dysplasia, Type Ii |
|
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... |
OMIM:187601 |
Mucolipidosis Ii Alpha/Beta |
|
Wide mouth, Pectus excavatum, Craniosynostosis, Osteopenia, Depressed nasal bridge, Bullet-shaped... |
OMIM:252500 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 1 |
|
Wide mouth, Clinodactyly of the 5th finger, Secundum atrial septal defect, Retrognathia, Cutis ma... |
OMIM:619758 |
Momo Syndrome |
|
High palate, Dental malocclusion, Taurodontia, Short sternum, Macrocephaly, Cutis marmorata, Shor... |
OMIM:157980 |
Ogden Syndrome |
|
Hydrocele testis, High palate, Apnea, Pectus excavatum, Abnormality of the dentition, Short philt... |
OMIM:300855 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cleft palate, Osteopenia, Short neck, Platyspondyly, Ventricular septal defect, Short nose, Intra... |
OMIM:616897 |
Kyphomelic Dysplasia |
|
Cleft palate, Femoral bowing, Depressed nasal bridge, Platyspondyly, Micromelia, Dumbbell-shaped ... |
OMIM:211350 |
Faciocardiomelic Dysplasia, Lethal |
|
Narrow mouth, Retrognathia, Micrognathia, Hypoplasia of the radius, Short 5th finger, Neonatal de... |
OMIM:227270 |
Odontochondrodysplasia |
|
Narrow chest, Respiratory distress, Dentinogenesis imperfecta, Short stature, Retrognathia, Depre... |
ORPHA:166272 |
Arthrogryposis, Distal, Type 1C |
|
High palate, Pursed lips, Cleft palate, Short neck, Rocker bottom foot, Clinodactyly of the 5th f... |
OMIM:619110 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
High palate, Tricuspid stenosis, Barrel-shaped chest, Short neck, Delayed eruption of teeth, Micr... |
OMIM:143095 |
Alagille Syndrome |
|
Short distal phalanx of finger, Telangiectasia of the skin, Vertebral segmentation defect, Clinod... |
ORPHA:52 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Malar flattening, Long clavicles, Sho... |
OMIM:171480 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Pulmonic stenosis, Microg... |
OMIM:619343 |
Orofaciodigital Syndrome Iii |
|
Kyphosis, Bulbous nose, Pectus excavatum, Short sternum, Supernumerary tooth, Bifid tongue, Bifid... |
OMIM:258850 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cleft palate, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Absent thu... |
OMIM:274000 |
Non-Distal Trisomy 10Q |
|
High palate, Pectus excavatum, Convex nasal ridge, Short stature, Everted lower lip vermilion, Mi... |
ORPHA:1695 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Micrognathia, Short philtrum, Short neck, Platyspondy... |
ORPHA:93267 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad phalanx, Pectus excavatum, Atrioventricular canal defect, Short neck, Hypoplasia of the cor... |
ORPHA:508498 |
Thanatophoric Dysplasia, Type I |
|
Macrocephaly, Femoral bowing, Short neck, Platyspondyly, Hypoplastic pelvis, Severe platyspondyly... |
OMIM:187600 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal irregularity, Coxa vara, Thoracic scoliosis, Talipes equinovarus, Metaphyseal cupping... |
OMIM:616716 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Hemivertebrae, Depressed nasal bridge, Tapered finger, Ventricular septal defect, Short nose, Sha... |
OMIM:301040 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Malar flattening, Everted lower lip vermilion, Micrognathia, Long philtrum, Downturned corners of... |
OMIM:615162 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Malar flattening, Everted lower lip vermilion, Micrognathia, Long philtrum, Hypoplasia of the uln... |
ORPHA:357175 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Narrow mouth, Absent thumb, Micropenis, Short stature, Thin vermilion border, Short femur, Short ... |
OMIM:612447 |
Scarf Syndrome |
|
Short sternum, Cutis laxa, Bifid scrotum, Micropenis, Craniosynostosis, Short neck, Long philtrum... |
ORPHA:3134 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
High palate, Pectus excavatum, Macrocephaly, Cerebral atrophy, Restrictive cardiomyopathy, Abnorm... |
OMIM:615398 |
Pallister-Hall-Like Syndrome |
|
Macrocephaly, Cleft palate, Short ribs, Micropenis, Micrognathia, Depressed nasal bridge, Microme... |
OMIM:241800 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Short sternum, Triangular mouth, Cleft palate, Depressed nasal bridge, Short neck, Ambiguous geni... |
OMIM:257300 |
Melnick-Needles Syndrome |
|
Tricuspid valve prolapse, Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, C... |
OMIM:309350 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Macrocephaly, Cleft palate, Cerebral calcification, Depressed nasal... |
ORPHA:628 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Short sternum, Short 1st metacarpal, Depressed nasal bridge, Short neck, Hypoplasia of the corpus... |
OMIM:269150 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Cleft palate, Short stature, Micrognathia, Short neck, Short nose, Anteverted nares, Abnormal ver... |
ORPHA:2015 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Narrow mouth, Bulbous nose, Frontal cortical atrophy, Thin vermilion border, Micrognathia, Death ... |
OMIM:618766 |
Cog1-Cdg |
|
High palate, Osteopenia, Short neck, Rhizomelia, Short long bone, Posterior rib gap, Rib fusion, ... |
ORPHA:263508 |
Spondyloperipheral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Barrel-shaped chest, Platyspondyly, Pectus ca... |
OMIM:271700 |
Acromesomelic Dysplasia 2A |
|
Disproportionate short-limb short stature, Stillbirth, Flexion contracture, Short femur, Hypoplas... |
OMIM:200700 |
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 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
High palate, Pectus excavatum, Macrocephaly, Cleft palate, Craniosynostosis, Hemivertebrae, Short... |
OMIM:213980 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Short stature, Hemivertebrae, Spina bifida occulta, Si... |
OMIM:613686 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Wide mouth, Pectus excavatum, Cleft palate, Craniosynostosis, Broad nasal t... |
OMIM:616268 |
Pallister-Hall Syndrome |
|
Cleft palate, Hemivertebrae, Depressed nasal bridge, Ventricular septal defect, Y-shaped metacarp... |
OMIM:146510 |
Donnai-Barrow Syndrome |
|
Wide anterior fontanel, Macrocephaly, Short sternum, Bicornuate uterus, Malar flattening, Intesti... |
OMIM:222448 |
Leri-Weill Dyschondrosteosis |
|
High palate, Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hy... |
OMIM:127300 |
14Q11.2 Microdeletion Syndrome |
|
High palate, Narrow mouth, Toe clinodactyly, Everted lower lip vermilion, Micrognathia, Depressed... |
ORPHA:261120 |
Bartsocas-Papas Syndrome 1 |
|
Short metacarpal, Cleft palate, Absent thumb, Short neck, Ambiguous genitalia, Short nose, Hypopl... |
OMIM:263650 |
3C Syndrome |
|
Abnormal mitral valve morphology, Macrocephaly, Cleft palate, Atrioventricular canal defect, Hemi... |
ORPHA:7 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
High palate, Abnormality of the tongue, Pectus excavatum, Cleft palate, Symphalangism affecting t... |
ORPHA:2990 |
Wolf-Hirschhorn Syndrome |
|
Abnormal cardiac septum morphology, Cleft palate, Short philtrum, Aplasia/Hypoplasia of the cereb... |
ORPHA:280 |
Scarf Syndrome |
|
Short sternum, Cutis laxa, Bifid scrotum, Micropenis, Coronal craniosynostosis, Barrel-shaped che... |
OMIM:312830 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Joint stiffness, Apnea, Secundum atrial septal defect, Conve... |
OMIM:609069 |
Ring Chromosome 12 Syndrome |
|
Pectus excavatum, Secundum atrial septal defect, Cryptorchidism, High, narrow palate, Lumbar hype... |
ORPHA:1439 |
Distal Monosomy 17Q |
|
Abnormal cardiac septum morphology, Narrow mouth, Short stature, Small hand, Abnormal hip bone mo... |
ORPHA:1597 |
Temple Syndrome |
|
High palate, Relative macrocephaly, Cleft palate, Short stature, Flexion contracture, Micrognathi... |
OMIM:616222 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Atrial septal defect, Talipes equinovarus, Malar flattening, Shor... |
ORPHA:52056 |
Van Bogaert-Hozay Syndrome |
|
Tooth malposition, Micrognathia, Depressed nasal bridge, Osteolytic defects of the phalanges of t... |
OMIM:277150 |
Zttk Syndrome |
|
High palate, Macrocephaly, Craniosynostosis, Abnormality of the dentition, Short philtrum, Hemive... |
OMIM:617140 |
Saethre-Chotzen Syndrome |
|
Cleft palate, Long nose, Radioulnar synostosis, Partial duplication of the distal phalanx of the ... |
OMIM:101400 |
Coffin-Siris Syndrome 1 |
|
High palate, Wide mouth, Short sternum, Cleft palate, Prominent fingertip pads, Cutis marmorata, ... |
OMIM:135900 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Short 1st metacarpal, Depressed nasal bridge, Monkey wrench f... |
OMIM:251450 |
Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis, Secundum atrial septal defect, Microretrognathia, Respiratory insufficiency, Hypoplasia... |
OMIM:619909 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Bulbous nose, Atrial septal defect, Secundum atrial septal defect, Low hanging columella, Thin ve... |
OMIM:618109 |
Down Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Single transverse palmar crease, Sandal... |
OMIM:190685 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Short clavicles, Short ribs, Short stature, Short humerus, Short neck, Short femoral neck, Scolio... |
OMIM:610319 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
High palate, Wide mouth, Macrocephaly, Cleft palate, Congenital hip dislocation, Short neck, Tape... |
OMIM:300209 |
Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... |
OMIM:173800 |
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Anal atresia, Clinodactyly of the 5th finger, Atrial septal defect, Atrioventricular canal defect... |
OMIM:600123 |
Congenital Disorder Of Glycosylation, Type Iig |
|
High palate, Cleft palate, Osteopenia, Short neck, Rhizomelia, Intrauterine growth retardation, V... |
OMIM:611209 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Platyspondyly, Disproportionate short-trunk short stature, Irregular acetabular roof, Genu valgum... |
ORPHA:93316 |
Schneckenbecken Dysplasia |
|
Narrow chest, Disproportionate short-limb short stature, Hypoplastic vertebral bodies, Macrocepha... |
ORPHA:3144 |
Postaxial Acrofacial Dysostosis |
|
Cleft upper lip, Growth delay, Pectus excavatum, Malar flattening, Micropenis, Cleft palate, Micr... |
OMIM:263750 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Hypoplasia of the ulna, Ambiguous genitalia,... |
OMIM:613091 |
Acrorenal-Mandibular Syndrome |
|
High palate, Hypoplasia of the radius, Uterus didelphys, Hemivertebrae, Rudimentary fibula, Hypop... |
OMIM:200980 |
Filippi Syndrome |
|
Hypodontia, Low hanging columella, Thin vermilion border, Short philtrum, Cutaneous syndactyly, F... |
OMIM:272440 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
High palate, Bulbous nose, Atrioventricular canal defect, Broad nasal tip, Depressed nasal bridge... |
OMIM:613792 |
Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Macrocephaly, Short femur, Short stature, Hypoplastic ilia, Congenital ... |
ORPHA:93333 |
Congenital Disorder Of Glycosylation, Type Iu |
|
High palate, Respiratory distress, Micrognathia, Scoliosis, Cerebellar hypoplasia, Optic atrophy,... |
OMIM:615042 |
Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Ventricular septal defect, Hypoplasia of the ulna, Sandal... |
OMIM:607323 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Narrow chest, Respiratory distress, Relative macrocephaly, Short ribs, Hypoplasia of the radius, ... |
OMIM:617895 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped ep... |
ORPHA:240 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Multiple joint contractures, Macrocephaly, Broad carpal bones, Short neck, ... |
ORPHA:99646 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Wide mouth, Secundum atrial septal defect, Cerebral atrophy, Short stature, Pulmonic stenosis, Ab... |
OMIM:615802 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Cleft palate, Clinodactyly of... |
ORPHA:3320 |
Orofaciodigital Syndrome Type 3 |
|
Bulbous nose, Pectus excavatum, Short sternum, Abnormality of the dentition, Bifid uvula, Lobulat... |
ORPHA:2752 |
Pelvis-Shoulder Dysplasia |
|
Cleft palate, Ambiguous genitalia, Absent proximal finger flexion creases, Talipes equinovarus, N... |
ORPHA:2839 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Bulbous nose, Elbow ankylosis, Abnormal external genitalia, Craniosynostosis, Femoral bowing, Dep... |
ORPHA:95699 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Kyphosis, Macroglossia, Short stature, Femoral retroversion, Micromelia, Scoliosis, Oral cleft, D... |
ORPHA:79107 |
Growth Delay Due To Insulin-Like Growth Factor I Resistance |
|
Pectus excavatum, Everted lower lip vermilion, Short stature, Thin vermilion border, Broad nasal ... |
ORPHA:73273 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Abnormal mitral valve morphology, Kyphosis, Atrial septal defect, Mesomelic/rhizome... |
ORPHA:1354 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Pectus excavatum, Macrocephaly, Finger joint hypermobility, Depressed nasal bridge, Monkey wrench... |
OMIM:618870 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Rib fusion, Macrocephaly, Atrial septal defect, Cleft palate, Craniosynostosis, Micrognathia, Abn... |
ORPHA:261197 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Cleft palate, Cutis marmorata, Hemivertebrae, Pectus carinatum, Radioulnar synostosis, Single tra... |
OMIM:614701 |
Omodysplasia 1 |
|
Depressed nasal bridge, Short neck, Ventricular septal defect, Rhizomelia, Short nose, Anterolate... |
OMIM:258315 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Slender finger, Sagittal craniosynostosis, Plantar flexion contractures, Intrauterine growth reta... |
ORPHA:2872 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Macrocephaly, Depressed nasal bridge, Short neck, Delayed er... |
OMIM:264090 |
Endosteal Hyperostosis, Worth Type |
|
Torus palatinus, Facial palsy, Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnor... |
ORPHA:2790 |
Rubinstein-Taybi Syndrome 1 |
|
High palate, Respiratory distress, Pectus excavatum, Cleft palate, Prominent fingertip pads, Prem... |
OMIM:180849 |
Tetrasomy 9P |
|
High palate, Abnormal mitral valve morphology, Abnormal cardiac septum morphology, Bulbous nose, ... |
ORPHA:3310 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
High palate, Narrow mouth, Secundum atrial septal defect, Microretrognathia, Flexion contracture,... |
OMIM:616866 |
Arthrogryposis, Distal, Type 3 |
|
High palate, Pectus excavatum, Cleft palate, Down-sloping shoulders, Congenital hip dislocation, ... |
OMIM:114300 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Pectus excavatum, Tapered finger, Foot joint contracture, Talipes eq... |
ORPHA:536516 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Narrow mouth, Short stature, Micrognathia, Camptodactyly of finger, Microcephaly, Hypoplasia of t... |
ORPHA:1495 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Depressed nasal ridge, Broad nasal tip, C1-C2 subluxation, Ventricular septal defect, Short nose,... |
ORPHA:79345 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Abnormal cardiac septum morphology, Cleft palate, Depressed nasal bridge, S... |
OMIM:217980 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Rib fusion, Vertebral segmen... |
OMIM:609813 |
Acromicric Dysplasia |
|
Joint stiffness, Narrow mouth, Abnormality of femur morphology, Severe short stature, Fifth metac... |
ORPHA:969 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect, Broad nasal tip, Microcephaly, Long philtrum, Overhanging nasal ti... |
OMIM:618665 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Wide mouth, Pectus excavatum, Short sternum, Macrocephaly, Cleft palate, Depressed nasal bridge, ... |
OMIM:312870 |
Lethal Recessive Chondrodysplasia |
|
Narrow chest, Respiratory distress, Macroglossia, Micrognathia, Micromelia, Limb undergrowth, Gen... |
ORPHA:1423 |
Brachydactyly Type A1 |
|
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Short stature, Distal sym... |
ORPHA:93388 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Miscarriage, Cleft palate, Short neck, Micromelia, Anisospondyly, Short long bone, Abnormal heart... |
ORPHA:1865 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
Juberg-Hayward Syndrome |
|
Abnormality of finger, Severe short stature, Dandy-Walker malformation, Hypoplasia of the radius,... |
ORPHA:2319 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of penis, Short stature, Uterus didelphys, Microcephal... |
ORPHA:2491 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Macrocephaly, Cleft palate, Cerebral calcification, Delayed eruption of teeth, Abnormal metaphysi... |
ORPHA:2780 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Abnormality of the d... |
ORPHA:457395 |
Acrofacial Dysostosis 1, Nager Type |
|
Wide mouth, Urticaria, Cleft palate, Absent thumb, Hypoplasia of the radius, Polymicrogyria, Radi... |
OMIM:154400 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Narrow chest, Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand,... |
OMIM:617102 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Severe short stature, Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral n... |
OMIM:619598 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Pectus excavatum, Depressed nasal bridge, Pectus carinatum, Short nose, Mandibular p... |
ORPHA:1327 |
Pallister W Syndrome |
|
Agenesis of central incisor, Radial bowing, Joint contracture of the hand, Broad nasal tip, Depre... |
OMIM:311450 |
Hydrolethalus Syndrome 1 |
|
Cleft palate, Bifid uterus, Anencephaly, Upper limb undergrowth, Ventricular septal defect, Intra... |
OMIM:236680 |
C Syndrome |
|
High palate, Wide mouth, Micromelia, Ulnar deviation of finger, Ventricular septal defect, Short ... |
OMIM:211750 |
Chromosome 16P13.3 Duplication Syndrome |
|
Short toe, Pectus excavatum, Atrial septal defect, Bulbous nose, Malar flattening, Short phalanx ... |
OMIM:613458 |
Wolf-Hirschhorn Syndrome |
|
Cleft palate, Craniofacial asymmetry, Short philtrum, Malrotation of small bowel, Radioulnar syno... |
OMIM:194190 |
Multiple Pterygium Syndrome, Escobar Variant |
|
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Down-sloping shoulders,... |
OMIM:265000 |
Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Tooth agenesis, Cleft palate, Open bite, Vertebral clefting, Depr... |
ORPHA:1248 |
Pierpont Syndrome |
|
Prominent fingertip pads, Broad nasal tip, Short neck, Short nose, Prominent median palatal raphe... |
OMIM:602342 |
Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Hypoplastic sacrum, Barrel... |
OMIM:304950 |
Microcephaly-Micromelia Syndrome |
|
Cleft palate, Craniosynostosis, Short neck, Micromelia, Simplified gyral pattern, Intrauterine gr... |
OMIM:251230 |
Moebius Syndrome |
|
High palate, Facial diplegia, Respiratory distress, Abnormality of the dentition, Depressed nasal... |
OMIM:157900 |
Mmep Syndrome |
|
Split foot, Microcephaly, Oral cleft, Ventricular septal defect, Triphalangeal thumb, Median clef... |
ORPHA:3434 |
Angioosteohypotrophic Syndrome |
|
Telangiectasia of the skin, Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upp... |
ORPHA:75508 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
High palate, Secundum atrial septal defect, Cleft palate, Pulmonic stenosis, Respiratory insuffic... |
OMIM:612541 |
Cranioectodermal Dysplasia 1 |
|
High palate, Pectus excavatum, Microdontia, Single transverse palmar crease, Rhizomelia, Sagittal... |
OMIM:218330 |
Seckel Syndrome 1 |
|
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Large basal gangli... |
OMIM:210600 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
High palate, Cleft palate, Platyspondyly, Pectus carinatum, Ulnar deviation of finger, Abnormal e... |
ORPHA:93359 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Talipes equinovarus, Short neck, Long philtrum, Neonatal death, Camptodactyly, Protein-losing ent... |
OMIM:608104 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Abnormal cardiac septum morphology, Anal atresia, Clinodactyly of the 5th finger, Aplasia/Hypopla... |
ORPHA:1352 |
Occipital Horn Syndrome |
|
High palate, Pectus excavatum, Hiatus hernia, Orthostatic hypotension, Platyspondyly, Pectus cari... |
OMIM:304150 |
Achondrogenesis Type 1B |
|
Narrow chest, Macrocephaly, Severe short stature, Talipes equinovarus, Micrognathia, Short neck, ... |
ORPHA:93298 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Slender finger, Cleft palate, Depressed nasal bridge, Short neck, Platyspondyly, Ani... |
ORPHA:163649 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Pectus excavatum, Short stature, Camptodactyly of finger, Bra... |
ORPHA:1937 |
Metatropic Dysplasia |
|
Halberd-shaped pelvis, Depressed nasal bridge, Cone-shaped epiphysis, Platyspondyly, Disproportio... |
OMIM:156530 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Forearm undergrowth, Convex nasal ridge, Craniosynostosis, Microcephaly, Dry skin, Oral cleft, Lo... |
OMIM:218650 |
Femur-Fibula-Ulna Complex |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Short stature, Short humerus, Micro... |
ORPHA:2019 |
Branchiooculofacial Syndrome |
|
Malrotation of colon, Cleft palate, Abnormality of the dentition, Broad nasal tip, Short neck, De... |
OMIM:113620 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
High palate, Respiratory distress, Pectus excavatum, Talipes equinovarus, Cleft palate, Camptodac... |
OMIM:614399 |
Yunis-Varon Syndrome |
|
High palate, Absent thumb, Short philtrum, Down-sloping shoulders, Birth length less than 3rd per... |
OMIM:216340 |
Achondrogenesis Type 1A |
|
Narrow chest, Recurrent fractures, Macrocephaly, Severe short stature, Multiple rib fractures, Mi... |
ORPHA:93299 |
W Syndrome |
|
Radial bowing, Broad nasal tip, Depressed nasal bridge, Camptodactyly, Hypoplasia of the ulna, Br... |
ORPHA:2804 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve, Gingival overgrowth, Relative macrocephaly, Triangular mouth, Short statur... |
OMIM:618529 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Pectus excavatum, Atrial septal defect, Abnormal rib cage morphology, Short stature, Hemivertebra... |
OMIM:608406 |
Cornelia De Lange Syndrome 5 |
|
High palate, Cleft palate, Cutis marmorata, Broad nasal tip, Short neck, Depressed nasal bridge, ... |
OMIM:300882 |
Metatropic Dysplasia |
|
Narrow chest, Joint stiffness, Kyphosis, Clinodactyly of the 5th finger, Severe short stature, Co... |
ORPHA:2635 |
Mental Retardation, X-Linked 91 |
|
High palate, Small hand, Short 5th finger, Macrodontia, Short nose, Cubitus valgus, Short foot, C... |
OMIM:300577 |
Diamond-Blackfan Anemia 11 |
|
Bicuspid aortic valve, Cleft palate, Short stature, Hypoplasia of the radius, Absent thumb, Radio... |
OMIM:614900 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Wide mouth, Hypospadias, Micrognathia, Microcephaly, Scoliosis, Hypoplasia ... |
OMIM:300934 |
Aicardi Syndrome |
|
Hiatus hernia, Cleft palate, Short philtrum, Aplasia/Hypoplasia of the cerebellum, Optic disc col... |
ORPHA:50 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vertebral segmentation defect, Joint stiffness, Tooth agenesis, Cerebral cortical atrophy, Cleft ... |
ORPHA:1166 |
Microcephaly-Capillary Malformation Syndrome |
|
Short distal phalanx of finger, Atrial septal defect, Cerebral atrophy, Cleft palate, Short statu... |
OMIM:614261 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Vertebral segmentation defect, Cleft palate, Abnormal hip bone morphology, Retrognathia, Thin ver... |
ORPHA:2631 |
Halperin-Birk Syndrome |
|
High palate, Talipes equinovarus, Flexion contracture, Micrognathia, Death in childhood, Agenesis... |
OMIM:618651 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Pectus excavatum, Atrioventricular canal defect, Broad nasal tip, Congenita... |
ORPHA:508488 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Alveolar ridge overgrowth, Drumstick terminal phalanges, Cleft palate, Retrognathia, Thin vermili... |
OMIM:612938 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Short long bone, Thoracic... |
OMIM:618363 |
Neuralgic Amyotrophy |
|
Sprengel anomaly, Narrow mouth, Cleft palate, Short stature, Respiratory insufficiency, Scapular ... |
ORPHA:2901 |
Recombinant Chromosome 8 Syndrome |
|
Pectus excavatum, Abnormality of the dentition, Depressed nasal bridge, Ventricular septal defect... |
OMIM:179613 |
Perching Syndrome |
|
High palate, Respiratory distress, Flexion contracture, Depressed nasal bridge, Camptodactyly |
OMIM:617055 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Cleft palate, Long nose, 11 pairs of ribs, Intrauterine growth retardation, Short long bone, Join... |
OMIM:619184 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Micrognathia, Broad ulna, Short ti... |
OMIM:249700 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Premature loss of teeth, Metaphyseal dysplasia, Convex nasal ridge, Short stature, Thin vermilion... |
OMIM:156510 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Osteopenia, Depressed nasal bridge, Platyspondyly, Delayed eruption of teeth, Tapere... |
OMIM:612350 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
High palate, Macrocephaly, External genital hypoplasia, Cleft palate, Slender finger, Abnormality... |
ORPHA:251028 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Depressed nasal bridge, Short neck, Micromelia, Severe platyspondyly, Short nose, Short long bone... |
OMIM:613320 |
Becker Nevus Syndrome |
|
Rib fusion, Kyphosis, Pectus excavatum, Micromelia, Scoliosis, Pectus carinatum, Abnormality of t... |
ORPHA:64755 |
Ivic Syndrome |
|
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... |
OMIM:147750 |
Cerebrofaciothoracic Dysplasia |
|
Sprengel anomaly, Rib fusion, Bifid ribs, Narrow chest, Wide mouth, Cleft upper lip, Cleft palate... |
ORPHA:1394 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Short stature, Hypoplasia of th... |
OMIM:112910 |
Craniosynostosis, Herrmann-Opitz Type |
|
Convex nasal ridge, Malar flattening, Short stature, Cleft palate, Micrognathia, Craniosynostosis... |
ORPHA:2145 |
Mental Retardation Syndrome, Mietens-Weber Type |
|
Forearm undergrowth, Dislocated radial head, Severe postnatal growth retardation, Narrow nose, El... |
OMIM:249600 |
Fetal Trimethadione Syndrome |
|
High palate, Atrial septal defect, Hypospadias, Micrognathia, Depressed nasal bridge, Scoliosis, ... |
ORPHA:1913 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Atrial septal defect, Malar flattening, Bilateral talipes equinovarus, Short stature, Brachydacty... |
OMIM:608571 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Pectus excavatum, Short stature, Pulmonic stenosis, Thin vermilion border, Brachydactyly, Carious... |
ORPHA:2701 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, High palate, 2-3 toe syndactyly, Atrial septal defect, Pulmonic st... |
ORPHA:3304 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Clinodactyly of the 5th finger, Pectus excavatum, Secundum atrial septal defect, Toe clinodactyly... |
OMIM:619910 |
Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Secundum atrial septal defect, Bicornuate uterus, Absent thumb, Hand o... |
OMIM:156810 |
Oculofaciocardiodental Syndrome |
|
Abnormal cardiac septum morphology, Cleft palate, Abnormality of the dentition, Delayed eruption ... |
ORPHA:2712 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
High palate, Growth delay, Clinodactyly of the 5th finger, Cleft palate, Micrognathia, Abnormalit... |
ORPHA:576283 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Kyphoscoliosis, Secundum atrial septal defect, Abnormality of fibular epiphyses, Rhizomelic arm s... |
ORPHA:96190 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Thin ribs, Short... |
OMIM:618395 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Disproportionate short-... |
ORPHA:174 |
Myhre Syndrome |
|
Abnormal cardiac septum morphology, External genital hypoplasia, Cleft palate, Abnormality of the... |
ORPHA:2588 |
Aicardi Syndrome |
|
Hiatus hernia, Cleft palate, Hemivertebrae, Optic disc coloboma, Polymicrogyria, Optic atrophy, B... |
OMIM:304050 |
Lujan-Fryns Syndrome |
|
High palate, Pectus excavatum, Atrial septal defect, Macrocephaly, Arachnodactyly, Micrognathia, ... |
ORPHA:776 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Bulbous nose, Depressed nasal bridge, Short philtrum, Short neck, Birth length less than 3rd perc... |
OMIM:618622 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
High palate, Down-sloping shoulders, Short neck, Tapered finger, Hypoplasia of the corpus callosu... |
OMIM:617452 |
Fanconi Anemia |
|
High palate, Abnormal cardiac septum morphology, Abnormality of femur morphology, Absent testis, ... |
ORPHA:84 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
High palate, Respiratory distress, Pectus carinatum, Hypoplasia of the corpus callosum, Optic atr... |
OMIM:619383 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Ectrodactyly, Upper limb phocomelia, Radial club hand, Abnormality of the nares, Short humerus, L... |
ORPHA:2878 |
Mental Retardation, Buenos Aires Type |
|
High palate, Dental malocclusion, Wide mouth, Pectus excavatum, Atrial septal defect, Clinodactyl... |
OMIM:249630 |
Cardioacrofacial Dysplasia 2 |
|
Narrow chest, Accessory oral frenulum, Clinodactyly of the 5th finger, Prominent nasal tip, Hypod... |
OMIM:619143 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Severe short stature, Back pain, Short... |
OMIM:277300 |
Rhizomelic Syndrome, Urbach Type |
|
High palate, Abnormality of the tongue, Cleft palate, Depressed nasal bridge, Short neck, Abnorma... |
ORPHA:3098 |
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome |
|
Joint stiffness, Narrow mouth, Short stature, Thin vermilion border, Micrognathia, Adducted thumb... |
ORPHA:1150 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Anal atresia, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Short h... |
OMIM:314390 |
Bullous Dystrophy, Hereditary Macular Type |
|
Severe short stature, Death in childhood, Microcephaly, Tapered finger, Acrocyanosis, Short finger |
OMIM:302000 |
8P23.1 Microdeletion Syndrome |
|
High palate, Abnormal cardiac septum morphology, Atrioventricular canal defect, Short neck, Taper... |
ORPHA:251071 |
Postaxial Acrofacial Dysostosis |
|
Cleft palate, Malar flattening, Hypoplasia of the radius, Micrognathia, Camptodactyly of finger, ... |
ORPHA:246 |
Mcdonough Syndrome |
|
Dental malocclusion, Kyphoscoliosis, Pectus excavatum, Atrial septal defect, Aortic valve stenosi... |
OMIM:248950 |
Kyphomelic Dysplasia |
|
Narrow chest, Joint stiffness, Undulate ribs, Micrognathia, Anterior rib cupping, Micromelia, Abn... |
ORPHA:1801 |
Mosaic Trisomy 14 |
|
Narrow chest, High palate, Wide mouth, Ectopic anus, Hypoplasia of penis, Cleft palate, Hypospadi... |
ORPHA:1703 |
Warburg Micro Syndrome 1 |
|
Perisylvian polymicrogyria, Overlapping toe, Narrow mouth, Kyphoscoliosis, External genital hypop... |
OMIM:600118 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Petechiae, Secundum atrial septal defect, Thin ribs, Cerebra... |
OMIM:617397 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Cleft palate, Pyloric stenosis, Single transverse palmar crease, Intrauteri... |
ORPHA:83617 |
Pierpont Syndrome |
|
Prominent fingertip pads, Short neck, Primary microcephaly, Abnormal subcutaneous fat tissue dist... |
ORPHA:487825 |
Distal Monosomy 1Q |
|
Short stature, Thin vermilion border, Micrognathia, Depressed nasal bridge, Microcephaly, Smooth ... |
ORPHA:36367 |
Desbuquois Dysplasia 2 |
|
Pectus excavatum, Cleft palate, Depressed nasal bridge, Cutaneous syndactyly, Monkey wrench femor... |
OMIM:615777 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
High palate, Bulbous nose, Pectus excavatum, Depressed nasal bridge, Short philtrum, Tapered fing... |
OMIM:617061 |
Diaphanospondylodysostosis |
|
Respiratory distress, Unossified sacrum, Cleft palate, Depressed nasal ridge, Depressed nasal bri... |
OMIM:608022 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Wide mouth, Thin ribs, Short stature, Depressed nasal ridge, Micrognathia, Short philtrum, Platys... |
ORPHA:163966 |
Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Pectus excavatum, Abnormal clavicle morphology, Absent thumb, ... |
ORPHA:392 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Disproportionate short-limb short stature, Short femur, Short humerus, Rhizomelia, Epiphyseal sti... |
OMIM:600121 |
Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Long philtrum, Short nose, Microretrognathia |
OMIM:218010 |
Heart-Hand Syndrome Type 2 |
|
Joint stiffness, Abnormal clavicle morphology, Asymmetry of the thorax, Abnormal morphology of ul... |
ORPHA:1350 |
Kniest Dysplasia |
|
Respiratory distress, Pectus excavatum, Cleft palate, Depressed nasal bridge, Short neck, Platysp... |
OMIM:156550 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
High palate, Facial diplegia, Kyphosis, Talipes equinovarus, Cerebral atrophy, Retrognathia, Micr... |
OMIM:611890 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Wide mouth, Macrocephaly, Triangular mouth, Cleft palate, Abnormality of the dentition, Depressed... |
OMIM:616331 |
Yunis-Varon Syndrome |
|
Slender long bones with narrow diaphyses, Absent thumb, Short philtrum, Tapered finger, Ventricul... |
ORPHA:3472 |
Stickler Syndrome, Type I |
|
Pectus excavatum, Cleft palate, Depressed nasal bridge, Platyspondyly, Joint stiffness, Spondylol... |
OMIM:108300 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
High palate, Dental crowding, Pectus excavatum, Cutis marmorata, Long nose, Finger clinodactyly, ... |
OMIM:617602 |
Meier-Gorlin Syndrome 1 |
|
High palate, Respiratory distress, Cleft palate, Absent glenoid fossa, Hemivertebrae, Birth lengt... |
OMIM:224690 |
Kbg Syndrome |
|
Cutaneous syndactyly, Short neck, Macrodontia, Single transverse palmar crease, Tented upper lip ... |
OMIM:148050 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Atrial septal defect, Short stature, Microcephaly, Long philtrum, Tetralogy of Fallot, Hypoplasia... |
OMIM:300887 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Cleft upper lip, High palate, Aplasia/Hypoplasia of the ulna, Cleft palate, Hand oligodactyly, Hy... |
OMIM:602418 |
Insulin-Like Growth Factor I, Resistance To |
|
High palate, Reduced subcutaneous adipose tissue, Pectus excavatum, Hypoplasia of the corpus call... |
OMIM:270450 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
High palate, Hip contracture, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Shortening of a... |
OMIM:616809 |
Ulnar-Mammary Syndrome |
|
Aplasia of the 5th metacarpal, Hypoplasia of the radius, Ventricular septal defect, Hypoplasia of... |
OMIM:181450 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Macrocephaly, Short stature, Depressed nasal bridge, Wide nasal bridge... |
ORPHA:1513 |
Verheij Syndrome |
|
Abnormal cardiac septum morphology, Cerebral atrophy, Short stature, Vertebral fusion, Hemiverteb... |
OMIM:615583 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Atrial septal defect, Microretrognathia, Adducted thumb, Cerebral calcifica... |
ORPHA:89844 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Platyspondyly, Rhizomelia, Short... |
OMIM:601438 |
Achondrogenesis |
|
Narrow chest, Macrocephaly, Severe short stature, Micrognathia, Short neck, Long philtrum, Microm... |
ORPHA:932 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Pectus excavatum, Slender finger, Short philtrum, Down-sloping shoulders, Short neck, Hypoplasia ... |
ORPHA:391408 |
Ruvalcaba Syndrome |
|
Dental crowding, Cone-shaped epiphysis, Micromelia, Pectus carinatum, Short nose, Intrauterine gr... |
ORPHA:3121 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Narrow mouth, Decreased palmar creases, Atrial septal defect, Joint contracture of the ... |
ORPHA:352490 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
Charge Syndrome |
|
Labial hypoplasia, External genital hypoplasia, Cleft palate, Tracheoesophageal fistula, Hemivert... |
OMIM:214800 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Narrow mouth, Short toe, Cleft palate, Short stature, Coronal craniosynostosis, Micrognathia, Bra... |
OMIM:614078 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Wide mouth, Slender nose, Micrognathia, Decreased motor nerve conduction velocity, Microcephaly, ... |
OMIM:615419 |
Distal Trisomy 18Q |
|
High palate, Pectus excavatum, Clinodactyly of the 5th finger, Hypoplasia of penis, Arachnodactyl... |
ORPHA:1716 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Cerebral atrophy, Malar flattening, Micropenis, Thin vermilion border, Hypospadias, Micrognathia,... |
ORPHA:171839 |
Steinfeld Syndrome |
|
Hypoplasia of the radius, Aplasia of the nose, Abnormality of the vertebral column, Bifid uvula, ... |
OMIM:184705 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Stillbirth, Death in adolescence, Neonatal death, Scoliosis, Camptodactyly,... |
OMIM:619751 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Joint stiffness, Severe short stature, Hypoplasia of the radius, Broad hallux phalanx, Micromelia... |
ORPHA:2249 |
Tetrasomy 5P |
|
High palate, Respiratory distress, Pectus excavatum, Macrocephaly, Short neck, Short nose, Clinod... |
ORPHA:3309 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Bilateral triphalangeal thumbs, Short distal phalanx of finger, Narrow mouth, Precocious puberty,... |
OMIM:619356 |
Short Stature-Micrognathia Syndrome |
|
High palate, 2-3 toe syndactyly, Coxa valga, Cleft palate, Short stature, Micropenis, Hypospadias... |
OMIM:617164 |
Burn-Mckeown Syndrome |
|
Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Atrial septal defect, Cleft palate, Short stat... |
OMIM:608572 |
Ruvalcaba Syndrome |
|
Narrow chest, Kyphosis, Short metacarpal, Short stature, Small hand, Microcephaly, Micromelia, Sh... |
OMIM:180870 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
High palate, Narrow mouth, Micrognathia, Depressed nasal bridge, Microcephaly, Long philtrum, Hyp... |
OMIM:613457 |
Codas Syndrome |
|
Coronal cleft vertebrae, Short metacarpal, Short stature, Depressed nasal bridge, Congenital hip ... |
ORPHA:1458 |
2Q32Q33 Microdeletion Syndrome |
|
High palate, Cleft palate, Clinodactyly of the 5th finger, Talipes equinovarus, Toe clinodactyly,... |
ORPHA:251019 |
Atelosteogenesis Type Ii |
|
Broad phalanx, Cleft palate, Short neck, Micromelia, Rhizomelic arm shortening, Upper limb underg... |
ORPHA:56304 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Narrow chest, Beaking of vertebral bodies, Increased intervertebral space, Short ribs, Metaphysea... |
OMIM:618961 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Anal atresia, Aortic valve stenosis, Atrial septal defect, Hypopla... |
OMIM:220210 |
Otospondylomegaepiphyseal Dysplasia |
|
Cleft palate, Abnormally ossified vertebrae, Depressed nasal bridge, Short neck, Platyspondyly, F... |
ORPHA:1427 |
Mesomelic Limb Shortening And Bowing |
|
Bowing of the legs, Mesomelic leg shortening, Cleft palate, Retrognathia, Micrognathia, Camptodac... |
OMIM:249710 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Facial diplegia, Cortical sclerosis, Macrocephaly, Diaphyseal sclerosis, Short st... |
OMIM:122860 |
Mietens Syndrome |
|
Joint stiffness, Coxa vara, Clinodactyly of the 5th finger, Severe short stature, Elbow ankylosis... |
ORPHA:2557 |
Diamond-Blackfan Anemia 1 |
|
High palate, Cleft palate, Absent thumb, Tricuspid stenosis, Hypoplasia of the radius, Hypoplasti... |
OMIM:105650 |
Cornelia De Lange Syndrome 2 |
|
High palate, Short stature, Small hand, Micrognathia, Cutis marmorata, Short neck, Brachydactyly,... |
OMIM:300590 |
Dystonia, Juvenile-Onset |
|
Cleft upper lip, Hypoplastic scapulae, Kyphoscoliosis, Cleft palate |
OMIM:607371 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Cerebral atrophy, Flexion contracture, Thin vermilion border, Micrognathia, Microcephaly, Death i... |
OMIM:608540 |
Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Respiratory distress, Atrioventricular canal defect, Congenital hip disl... |
OMIM:306955 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Atrial septal defect, Intestinal malrotation, Long philtrum, Brachydactyl... |
ORPHA:401935 |
Catel-Manzke Syndrome |
|
High palate, Pectus excavatum, Cleft palate, Short neck, Pectus carinatum, Ventricular septal def... |
OMIM:616145 |
20P12.3 Microdeletion Syndrome |
|
Narrow mouth, Macrocephaly, Atrial septal defect, Malar flattening, Short stature, Depressed nasa... |
ORPHA:261295 |
Autosomal Recessive Omodysplasia |
|
Abnormality of femur morphology, Short stature, Craniosynostosis, Micrognathia, Hypoplastic dista... |
ORPHA:93329 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Narrow chest, Trident pelvis, Disproportionate short-limb short stature, Flexion contracture, Mic... |
OMIM:619479 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Wide mouth, Macrocephaly, External genital hypoplasia, Cleft palate, Elbow ankylosis, Symphalangi... |
ORPHA:2658 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Atrial septal defect, Slender finger, Malar flattening, Short stature, Clef... |
OMIM:610536 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Cleft palate, Barrel-shaped chest, Short neck, Platyspondyly, Pectus carina... |
OMIM:183900 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Cerebral hypoplasia, Gingival overgrowth, Short stature, Recurrent upper respiratory tract infect... |
ORPHA:508542 |
Emanuel Syndrome |
|
High palate, Multiple joint contractures, Cleft palate, Congenital hip dislocation, Delayed erupt... |
ORPHA:96170 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
High palate, Abnormal external genitalia, Depressed nasal ridge, Depressed nasal bridge, 11 pairs... |
OMIM:607872 |
Pde4D Haploinsufficiency Syndrome |
|
Broad phalanx, Depressed nasal bridge, Short philtrum, Cone-shaped epiphysis, Upper limb undergro... |
ORPHA:439822 |
3P25.3 Microdeletion Syndrome |
|
Cleft palate, Depressed nasal bridge, Short philtrum, 2-3 finger syndactyly, Tapered finger, Vent... |
ORPHA:435638 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Telangiectasia, Respiratory distress, High, narrow palate, Small hand, Micrognathia, Depressed na... |
OMIM:608799 |
Roifman Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Intrauterine growth retardation, Clin... |
OMIM:616651 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Short distal phalanx of finger, Joint stiffness, High, narrow palate, Cleft palate, Micrognathia,... |
ORPHA:2516 |
Bone Dysplasia, Lethal Holmgren Type |
|
Abnormality of femur morphology, Depressed nasal ridge, Short neck, Micromelia, Rhizomelia, Abnor... |
ORPHA:1842 |
Pallister-Hall Syndrome |
|
Macrocephaly, Cleft palate, Atrioventricular canal defect, Depressed nasal ridge, Hemivertebrae, ... |
ORPHA:672 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Sprengel anomaly, Joint stiffness, Kyphosis, Beaking of vertebral bodies, Depressed nasal bridge,... |
ORPHA:40 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
High palate, Narrow mouth, Precocious puberty, Cleft palate, Short stature, Small hand, Micrognat... |
ORPHA:96184 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Narrow mouth, Bulbous nose, Atrial septal defect, Malar flattening, Short stature, Cleft palate, ... |
ORPHA:93946 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Overlapping toe, Atrial septal defect, Micropenis, Retrognathia, Micrognathia, Bilat... |
OMIM:618142 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
High palate, Multiple joint contractures, Respiratory distress, Pectus excavatum, Slender long bo... |
ORPHA:536467 |
Filippi Syndrome |
|
Short philtrum, Ventricular septal defect, Optic atrophy, Intrauterine growth retardation, Clinod... |
ORPHA:3255 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High palate, Pectus excavatum, Short sternum, Abnormality of the dentition, Osteopenia, Short nec... |
ORPHA:99413 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the tongue, Arachnoda... |
ORPHA:2759 |
Mosaic Monosomy X |
|
High palate, Pectus excavatum, Short sternum, Abnormality of the dentition, Osteopenia, Short nec... |
ORPHA:99228 |
Monosomy X |
|
High palate, Pectus excavatum, Short sternum, Abnormality of the dentition, Osteopenia, Short nec... |
ORPHA:99226 |
Turner Syndrome |
|
High palate, Pectus excavatum, Short sternum, Abnormality of the dentition, Osteopenia, Short nec... |
ORPHA:881 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Platyspondyly, Micromelia, Short neck, Metaphyseal irregularity, Narrow greater sciatic notch, Sh... |
OMIM:602557 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Short distal phalanx of finger, Short toe, Aplasia/Hypoplasia of the distal phalanges of the toes... |
ORPHA:3201 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
Fetal Alcohol Syndrome |
|
Vertebral segmentation defect, Joint stiffness, Atrial septal defect, Cleft palate, Short stature... |
ORPHA:1915 |
Craniofaciofrontodigital Syndrome |
|
Dental malocclusion, Pectus excavatum, Hypoplastic vertebral bodies, Macrocephaly, Short stature,... |
OMIM:114620 |
Neurofibromatosis-Noonan Syndrome |
|
Pectus excavatum, Secundum atrial septal defect, Macrocephaly, Malar flattening, Short stature, P... |
OMIM:601321 |
Mucopolysaccharidosis Type 4 |
|
Wide mouth, Macrocephaly, Abnormality of the dentition, Short neck, Platyspondyly, Pectus carinat... |
ORPHA:582 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Premature loss of teeth, Recurrent fractures, Kyphosis, Macrocephaly, Increased bone mineral dens... |
OMIM:239000 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Abnormal cardiac septum morphology, Short philtrum, Carious ... |
OMIM:613026 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Cleft palate, Absent thumb, Hemivertebrae, Short philtrum, Depressed nasal bridge, Hypoplasia of ... |
ORPHA:500150 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Respiratory insufficiency due to muscle weakness, Flexion ... |
ORPHA:1143 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, High palate, Bulbous nose, Macrocephaly, Malar flattening, Hemivertebrae, Depre... |
ORPHA:2180 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
High palate, Short neck, Tapered finger, Ventricular septal defect, Limb joint contracture, Intra... |
ORPHA:505237 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck, Disprop... |
OMIM:608681 |
8Q22.1 Microdeletion Syndrome |
|
Depressed nasal ridge, Craniosynostosis, Abnormality of the dentition, Camptodactyly of finger, L... |
ORPHA:178303 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Slender long bones with narrow diaphyses, Cleft palate, Abnormality ... |
ORPHA:536471 |
Nicolaides-Baraitser Syndrome |
|
Wide mouth, Excessive wrinkled skin, Abnormal epiphysis morphology, Sandal gap, Thick nasal alae,... |
ORPHA:3051 |
Zechi-Ceide Syndrome |
|
Short distal phalanx of finger, Atrial septal defect, Cleft palate, Thin vermilion border, Short ... |
ORPHA:217017 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Pectus excavatum, Cleft palate, Short neck, Single transverse palmar crease, ... |
OMIM:305400 |
Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Thin vermilion border, Abnormal nasal morphology, Brachydactyly, ... |
ORPHA:3303 |
Stickler Syndrome Type 1 |
|
Cleft palate, Osteoarthritis, Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis mo... |
ORPHA:90653 |
Acrocallosal Syndrome |
|
High palate, Abnormal cardiac septum morphology, Wide mouth, Macrocephaly, Triangular mouth, Clef... |
OMIM:200990 |
Feingold Syndrome 2 |
|
3-4 toe syndactyly, 2-3 toe syndactyly, Intestinal atresia, Short stature, Short middle phalanx o... |
OMIM:614326 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
2-3 finger syndactyly, Hamartoma of tongue, Postaxial hand polydactyly, Broad hallux, Subvalvular... |
OMIM:217085 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Finger joint hypermobility, Osteopenia, Depressed nasal bridge, Pectus cari... |
ORPHA:363705 |
Chung-Jansen Syndrome |
|
High palate, Thin vermilion border, Micrognathia, Short philtrum, Long philtrum, Tapered finger, ... |
OMIM:617991 |
Pelvis-Shoulder Dysplasia |
|
Short clavicles, Clinodactyly of the 5th finger, Lumbar hyperlordosis, Back pain, Short stature, ... |
OMIM:169550 |
Coffin-Siris Syndrome 5 |
|
Short distal phalanx of finger, Wide mouth, Atrial septal defect, Short stature, Arachnodactyly, ... |
OMIM:616938 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Pectus carinatum, Genu valgum, Short long bone, Cleft upper lip, Aceta... |
OMIM:225500 |
Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Everted lower lip vermilion, Pie... |
OMIM:619980 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Micrognathia, Short philtrum, Scoliosis, Ventricular septal defect, Widely-... |
OMIM:608227 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Cleft palate, Depressed nasal bridge, Ventricular septal defect, Abnormal heart morphology, Posta... |
ORPHA:404440 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Craniosynostosis, Short stature, Micrognathia, Abnormality of the dentition, Depressed nasal brid... |
OMIM:616901 |
Otopalatodigital Syndrome, Type I |
|
Pectus excavatum, Cleft palate, Short 3rd metacarpal, Broad hallux, Short nose, Sandal gap, Broad... |
OMIM:311300 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
High palate, Dental malocclusion, Respiratory distress, External genital hypoplasia, Micrognathia... |
ORPHA:329178 |
Achondroplasia |
|
Macrocephaly, Depressed nasal bridge, Rhizomelia, Short nasal bridge, Short long bone, Thoracic h... |
ORPHA:15 |
Zimmermann-Laband Syndrome 3 |
|
High palate, Short distal phalanx of finger, Gingival overgrowth, Long hallux, Absent distal phal... |
OMIM:618658 |
Isolated Klippel-Feil Syndrome |
|
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Anal atresia, Ectopic anus, Cleft palate, Abno... |
ORPHA:2345 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... |
ORPHA:363417 |
19P13.3 Microduplication Syndrome |
|
Cleft palate, Short philtrum, Ventricular septal defect, Hip subluxation, Intrauterine growth ret... |
ORPHA:447980 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Abnormal cardiac septum morphology, Wide mouth, Bulbous nose, Cleft palate, Depressed nasal bridg... |
OMIM:618454 |
Stuve-Wiedemann Syndrome 1 |
|
Apnea, Pursed lips, Femoral bowing, Short neck, Carious teeth, Ulnar deviation of finger, Single ... |
OMIM:601559 |
Melnick-Needles Syndrome |
|
Abnormal cardiac septum morphology, Cone-shaped epiphyses of the phalanges of the hand, Abnormali... |
ORPHA:2484 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Disproportionate short-limb short stature, Hypoplastic left heart, Hypoplasi... |
ORPHA:2772 |
Renpenning Syndrome |
|
Pectus excavatum, Cleft palate, Short philtrum, Macrodontia, Mandibular prognathia, Sprengel anom... |
ORPHA:3242 |
Mucopolysaccharidosis, Type Iva |
|
Wide mouth, Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beakin... |
OMIM:253000 |
Coffin-Siris Syndrome 6 |
|
Kyphoscoliosis, Pectus excavatum, Atrial septal defect, High, narrow palate, Cleft palate, Short ... |
OMIM:617808 |
Axial Spondylometaphyseal Dysplasia |
|
Mild postnatal growth retardation, Osteopenia, Platyspondyly, Upper limb undergrowth, Disproporti... |
ORPHA:168549 |
Desmosterolosis |
|
Anomalous pulmonary venous return, Macrocephaly, Cleft palate, Depressed nasal bridge, Micromelia... |
ORPHA:35107 |
Radio-Renal Syndrome |
|
Respiratory distress, Severe short stature, High, narrow palate, Chylothorax, Convex nasal ridge,... |
ORPHA:3015 |
Arthrogryposis, Distal, Type 2A |
|
High palate, Flexion contracture of finger, Pursed lips, Short neck, Short nose, Rocker bottom fo... |
OMIM:193700 |
Lowry-Maclean Syndrome |
|
Cleft palate, Atrioventricular canal defect, Craniosynostosis, Osteopenia, Pyloric stenosis, Sing... |
ORPHA:2409 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
High palate, Prominent sternum, Broad nasal tip, Depressed nasal bridge, Short neck, Platyspondyl... |
OMIM:300232 |
Loeys-Dietz Syndrome 5 |
|
High palate, Reduced subcutaneous adipose tissue, Pectus excavatum, Hiatus hernia, Cleft palate, ... |
OMIM:615582 |
Diaphanospondylodysostosis |
|
Respiratory distress, Enlarged thorax, Cleft palate, Abnormal vertebral segmentation and fusion, ... |
ORPHA:66637 |
Coffin-Siris Syndrome 10 |
|
Wide mouth, Persistence of primary teeth, Microcephaly, Ventricular septal defect, Clinodactyly, ... |
OMIM:618506 |
Carpenter Syndrome 1 |
|