Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive |
OMIM:600121 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death |
OMIM:620203 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Bicuspid aortic valve |
OMIM:614475 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl... |
ORPHA:2141 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Elbow dislocation, Absent radius,... |
OMIM:171480 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Coxa vara, Contract... |
OMIM:616716 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... |
ORPHA:3268 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Flat occiput, Flexion contracture, Brachycephaly, Protruding ear, Atrial septal defect, Short sta... |
OMIM:617452 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Aplasia of the ulna, Absen... |
OMIM:142900 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Decreased palmar creases, Micrognathia, Congenital contracture, Joint contracture of the 5th fing... |
ORPHA:352490 |
Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Cornelia De Lange Syndrome 2 |
|
Ptosis, Short stature, Proximal placement of thumb, Micrognathia, Microcephaly, Postnatal growth ... |
OMIM:300590 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Flat occiput, Micrognathia, Synophrys, Brachycephaly, Atrioventricular canal defect, Short statur... |
OMIM:613792 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Greig Cephalopolysyndactyly Syndrome |
|
Abnormal calvaria morphology, Camptodactyly of toe, Agenesis of corpus callosum, Broad hallux pha... |
OMIM:175700 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Cerebellar atrophy, Cerebral calcification, Rocker bottom foot, 4-layered liss... |
ORPHA:89844 |
Catel-Manzke Syndrome |
|
Low-set, posteriorly rotated ears, Atrial septal defect, Ventricular septal defect, Camptodactyly... |
ORPHA:1388 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta... |
OMIM:609052 |
Gombo Syndrome |
|
Microcephaly, Abnormal heart morphology, Radial deviation of finger, Delayed puberty, Clinodactyl... |
OMIM:233270 |
Al Kaissi Syndrome |
|
Synophrys, Brachycephaly, Atrial septal defect, Short stature, Decreased head circumference, Wide... |
OMIM:617694 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Flat occiput, Brachycephaly, Atrial septal defect, Arach... |
ORPHA:505237 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Decreased palmar creases, Micrognathia, Brachycephaly, Clinodactyly of the 5th finger, Hyperactiv... |
OMIM:615834 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Single transverse palmar crease, Cerebellar gliosis, Partial agenesis of the corpus callosum, Fle... |
ORPHA:79243 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Deviation of finger, Deforme... |
ORPHA:2831 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Brachycephaly, Patent foramen ovale, Syndactyly, Hyperactivity, Short stat... |
ORPHA:369891 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Micrognathia, Ventricular septal... |
OMIM:618142 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Hyperactivity, Epicanthus, Ventricular septal... |
ORPHA:3306 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Joint stiffness, Microg... |
ORPHA:1801 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Cerebellar vermis hypoplasia, Micrognathia, Brachycephaly, Tubulointerstitial nephritis, Atrial s... |
ORPHA:459061 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... |
ORPHA:2491 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
Microcephaly 16, Primary, Autosomal Recessive |
|
Ptosis, Telecanthus, Short stature, Micrognathia, Simplified gyral pattern, Knee flexion contract... |
OMIM:616681 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Frontal bossing, Bowing of the long bones, Cloverleaf skull, Ventricular septal defe... |
ORPHA:93267 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Mandibular prognathia, Bicuspid aortic valve, Brachycephaly, Atrial septal defect, Clinodactyly o... |
OMIM:619721 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Microcephaly, Micrognathia, Arthrogryposis multiplex congenita, Cerebellar hy... |
OMIM:616570 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Short stature, Arthritis, Abnormal cardiac se... |
ORPHA:1937 |
Aminopterin Syndrome Sine Aminopterin |
|
Micrognathia, Brachycephaly, Decreased body weight, Syndactyly, Rudimentary postaxial polydactyly... |
OMIM:600325 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Micrognathia, Brachycephaly, Short palm, Clinodactyly of the 5th fi... |
OMIM:620073 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Small for gestational age, Short stature, Microcephaly, Micrognathia, Wide nasal bridge, Abnormal... |
OMIM:612626 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Delayed os... |
OMIM:602471 |
Corpus Callosum, Agenesis Of |
|
Frontal bossing, Microcephaly, Growth delay, Macrocephaly, Joint contracture of the hand, Agenesi... |
OMIM:217990 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Flat occiput, Short stature, Highly arched eyebrow, Microcephaly, Cortical dysplasia, Simplified ... |
OMIM:608716 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Brach... |
OMIM:201000 |
Fetal Trimethadione Syndrome |
|
Ptosis, Epicanthus, Ventricular septal defect, Micrognathia, Microcephaly, Synophrys, Overfolded ... |
ORPHA:1913 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Synophrys, Hypoplasia of the brainstem, Abno... |
OMIM:617751 |
Pierpont Syndrome |
|
Brachycephaly, Large fleshy ears, Short palm, Prominent fingertip pads, Short stature, Short toe,... |
OMIM:602342 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Frontal bossing, Short stature, Delayed epiphyseal ossification, Wide nasal bridge, Cerebral atro... |
ORPHA:166024 |
Chromosome 2Q37 Deletion Syndrome |
|
Short fourth metatarsal, Brachycephaly, Abnormal repetitive mannerisms, Short phalanx of finger, ... |
OMIM:600430 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Narrow chest, Vertebral hypoplasia, Short metacarp... |
OMIM:108720 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnorma... |
ORPHA:93351 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Severe short stature, Highly arched eyebrow, Dysplastic corpus callosum, Sy... |
OMIM:616854 |
Recombinant Chromosome 8 Syndrome |
|
Atrial septal defect, Ventricular septal defect, Posteriorly rotated ears, Micrognathia, Postnata... |
OMIM:179613 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... |
OMIM:156530 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Hyperactivity, Midface retrusion, Short stature, Hearing impairment, Synop... |
OMIM:182290 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Reduced bone mineral density, Abnormal pelvic g... |
ORPHA:2370 |
8Q12 Microduplication Syndrome |
|
Epicanthus, Telecanthus, Ventricular septal defect, Highly arched eyebrow, Sensorineural hearing ... |
ORPHA:228399 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co... |
OMIM:610031 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Micrognathia, Cardiomegaly, Multiple prenatal fractures, Flexion contracture, Brachyc... |
OMIM:616897 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Abnormal size of the palpebral fissures, Hypoplasia of the brainstem, Abno... |
ORPHA:500159 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b... |
ORPHA:2878 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Optic disc pallor, Sandal gap, Short stature, Congenital diaphragmatic h... |
OMIM:300887 |
Roifman Syndrome |
|
Single transverse palmar crease, Clinodactyly of the 5th finger, Short metacarpal, Short stature,... |
OMIM:616651 |
Warburg Micro Syndrome 1 |
|
Cerebellar vermis hypoplasia, Overlapping toe, Short stature, Micrognathia, Microcephaly, Macroti... |
OMIM:600118 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Joint laxity, Frontal bossing, Inguinal hernia, Telecanthus, Arachnodactyly, Facial hypotonia, Br... |
OMIM:615539 |
Pierpont Syndrome |
|
Joint laxity, Excessive wrinkling of palmar skin, Telecanthus, Small for gestational age, Abnorma... |
ORPHA:487825 |
Intellectual Disability-Strabismus Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Synophrys, Atrial septal defect, Agenesis of corpu... |
ORPHA:363528 |
Radio-Tartaglia Syndrome |
|
Micrognathia, Tremor, Synophrys, Conductive hearing impairment, Abnormal repetitive mannerisms, A... |
OMIM:619312 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro... |
ORPHA:1350 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
6Q25 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Short stature, Camptodactyly of finger, Rocker bot... |
ORPHA:251056 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Attached earlobe, Synophrys, Brachycephaly, Low-set, posteriorly rotated e... |
ORPHA:1327 |
Roifman Syndrome |
|
Delayed proximal femoral epiphyseal ossification, Hippocampal atrophy, Clinodactyly of the 5th fi... |
ORPHA:353298 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Hypoplasia of the maxilla, Tr... |
OMIM:218000 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Pica, Atrial septal defect, Agenesis of corpus callosum, Short stature, Highly arched eyebrow, Wi... |
OMIM:617360 |
Distal Deletion 10Q |
|
Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Br... |
ORPHA:96148 |
Metaphyseal Anadysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Aplasia/Hypoplasia of the... |
ORPHA:1040 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal rib morphology, Clavicular sclero... |
ORPHA:2790 |
Feingold Syndrome Type 2 |
|
Toe syndactyly, Ventricular septal defect, Short stature, Microcephaly, Short thumb, Short middle... |
ORPHA:391646 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Aggressive behavior, Microcephaly, Porencephalic cyst, Chiari malformation, Attention deficit hyp... |
ORPHA:254351 |
Wiedemann-Steiner Syndrome |
|
Micrognathia, Synophrys, Atrial septal defect, Clinodactyly of the 5th finger, Short phalanx of f... |
OMIM:605130 |
19P13.12 Microdeletion Syndrome |
|
Synophrys, Brachycephaly, Short palm, Atrial septal defect, Conductive hearing impairment, Clinod... |
ORPHA:254346 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Epicanthus, Ulnar deviation of the hand, Posteriorly rotated ears, Telecanthus, Cong... |
OMIM:263210 |
Frontonasal Dysplasia 1 |
|
Pericallosal lipoma, Frontal cutaneous lipoma, Ptosis, Epicanthus, Hypoplasia of the maxilla, Pos... |
OMIM:136760 |
Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Frontal bossing, Sandal gap, Camptodactyly of finger, Do... |
ORPHA:1520 |
Muenke Syndrome |
|
Clinodactyly, Brachycephaly, Short middle phalanx of toe, Thimble-shaped middle phalanges of hand... |
OMIM:602849 |
Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Pachygyria, Agenesis of corpus callosum, Short stature, Highly arched eyeb... |
OMIM:243310 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion... |
ORPHA:272 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Rhizomelia, Micrognathia, Flexion contracture, Epiphyseal stippling, A... |
OMIM:222765 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Single transverse pal... |
OMIM:619720 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Frontal bossing, Telecanthus, Congenital... |
ORPHA:380 |
Ventriculomegaly And Arthrogryposis |
|
Ulnar deviation of the wrist, Micrognathia, Cerebellar hypoplasia, Talipes equinovarus, Hand clen... |
OMIM:619501 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Low-set, posteriorly rotated ears, Inguinal hernia, Epicanthus, Small for gestational age, Ventri... |
ORPHA:3369 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Epicanthus, Abnormal pinna morphology, Tapered finger, Microcephaly, Synophrys, Obesity, Wide nas... |
ORPHA:352530 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Atrial septal defect, Agenesis of corpus callosum, Hype... |
ORPHA:261323 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Barrel-shape... |
OMIM:239000 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Osteopenia, Epicanthus, Ventricular septal defect, Posteriorly rotated ears, Impulsivity, Single ... |
OMIM:619717 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Abnormal finger flexion crease, Abnormal palmar dermatoglyphics, Abnormality of the distal phalan... |
ORPHA:3246 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Hypoplasia of the pons, Cortical dysplasia, Calcaneovalgus deformity, Brachycephaly, Pachygyria, ... |
OMIM:612513 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Single transverse palmar crease, Micrognathia, Tremor, Synophrys, Compulsive behaviors, Atrial se... |
OMIM:617061 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Skeletal muscle atrophy, Cerebral white matter atrophy, Proximal placement... |
ORPHA:435638 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect |
ORPHA:96190 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Proximal placement of thumb, Long nose, Partial agenesis of the corpus callosum, Synophrys, Clino... |
OMIM:620113 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Microcephaly, Abnormal repetitive mannerisms, Cortical dysplasia, Small hand, Short foot, Self-in... |
OMIM:615282 |
Coffin-Siris Syndrome 6 |
|
Frontal bossing, Epicanthus, Short stature, Posteriorly rotated ears, Micrognathia, Conductive he... |
OMIM:617808 |
Non-Distal Duplication 10Q |
|
Low-set, posteriorly rotated ears, Frontal bossing, Short stature, Microcephaly, Micrognathia, Br... |
ORPHA:1695 |
Insulin-Like Growth Factor I, Resistance To |
|
Micrognathia, Synophrys, Atrial septal defect, Patent foramen ovale, Short stature, Highly arched... |
OMIM:270450 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Osteopenia, Proximal placement of thumb, Brachycephaly, Abnormal repetitiv... |
OMIM:212066 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Microcephaly, Hip subluxation, Brachycephaly, Reduced bone mineral density, Cerebral cortical atr... |
OMIM:620200 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Agenesis of corpus callosum, Short stature, Postaxial foot polydactyly, Deep palmar crease, Pulmo... |
OMIM:301056 |
Den Hoed-De Boer-Voisin Syndrome |
|
EEG with focal spike waves, Tremor, Brachycephaly, Decreased body weight, Abnormal repetitive man... |
OMIM:619229 |
Lissencephaly 4 |
|
Short stature, Simplified gyral pattern, Wide nasal bridge, Growth delay, Colpocephaly, Lissencep... |
OMIM:614019 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Short stature, Aggressive behavior, Limb tremor, Brachycephaly, Macrocephaly, Self-injurious beha... |
OMIM:300699 |
Trisomy 10P |
|
Decreased muscle mass, Micrognathia, Simplified gyral pattern, EEG with focal spikes, Abnormal hi... |
ORPHA:171929 |
Microcephaly-Capillary Malformation Syndrome |
|
Ptosis, Ventricular septal defect, Small for gestational age, Short stature, Hearing impairment, ... |
OMIM:614261 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... |
OMIM:617405 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Osteopenia, Hip contracture, Frontal bossing, Epicanthus, Failure to thrive in infancy, Facial hy... |
OMIM:616801 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, ... |
ORPHA:776 |
Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Knee flexion contracture, Hypoplasia of the brainstem, Hernia, Wrist flexi... |
OMIM:193700 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Probst bundles, Impulsivity, Aggressive behavior, Sparse eyebrow, Downslanted palpebral fissures,... |
OMIM:618286 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Short palm, Short 1st metacarpal |
ORPHA:93328 |
German Syndrome |
|
Abnormal eyebrow morphology, Short stature, Camptodactyly of finger, Micrognathia, Dolichocephaly... |
ORPHA:2077 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Micrognathia, Hypoplasia of the brainstem, Congenital contracture, Agenesi... |
OMIM:248700 |
Cornelia De Lange Syndrome 5 |
|
Ptosis, Telecanthus, Toe syndactyly, Short stature, Proximal placement of thumb, Micrognathia, Mi... |
OMIM:300882 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Inguinal hernia, Short stature, Uplifted earlobe, Tapered finger, Microcephaly, Larg... |
ORPHA:261652 |
Suleiman-El-Hattab Syndrome |
|
Single transverse palmar crease, Synophrys, Protruding ear, Atrial septal defect, Patent foramen ... |
OMIM:618950 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Diffuse cerebral atrophy, Micrognathia, Basal ganglia calcification, Flexion contracture, Knee fl... |
OMIM:214150 |
Pontocerebellar Hypoplasia, Type 3 |
|
Cerebellar atrophy, Optic disc pallor, Short stature, Reduced cerebral white matter volume, Hypop... |
OMIM:608027 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Ptosis, Hyperactivity, Inguinal hernia, Sandal gap, Short stature, Hea... |
OMIM:614607 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Microcephaly, Hypoplasia of the pons, Choreoathetosis, Dystonia, Atria... |
OMIM:614249 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Brachycephaly, Atrial septal defect, Clinodactyly of the 5th finger, Agenesis of corpus callosum,... |
OMIM:612582 |
Omodysplasia 2 |
|
Short humerus, Micrognathia, Fibular hypoplasia, Limited elbow flexion/extension, Hypoplastic dis... |
OMIM:164745 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Short stature, Short middle phalanx of the 2nd finger, Short thumb, Po... |
OMIM:614326 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect |
OMIM:611926 |
Filippi Syndrome |
|
Cerebellar atrophy, Dystonia, Ventricular septal defect, Single transverse palmar crease, Microce... |
OMIM:272440 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Hypoplasia of the pons, Partial ... |
OMIM:619512 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Micrognathia, Synophrys, Brachycephaly, Conductive hearing impairment, Cli... |
ORPHA:819 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Microcephaly, Micrognathia, P... |
OMIM:615419 |
Toriello-Carey Syndrome |
|
Micrognathia, Partial agenesis of the corpus callosum, Clinodactyly, Anotia, Aplasia/Hypoplasia o... |
ORPHA:3338 |
Braddock-Carey Syndrome 1 |
|
Telecanthus, Aortic valve prolapse, Ventricular septal defect, Posteriorly rotated ears, Microcep... |
OMIM:619980 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthrit... |
OMIM:271650 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Joint stiffness, Abnormal enchondral ossification, Abnormal ... |
ORPHA:2635 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Obesity, Bell-shaped thorax, Short long bone, Thora... |
OMIM:615633 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Brachycephaly, ... |
ORPHA:439822 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Short stature, Absent septum pellucidum, Microcephaly, Aggressive behavior, Simplified gyral patt... |
OMIM:618492 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Rocker bottom foot, Microcephaly, Micrognathia, Optic atrophy, Hand clenching, Low-set ears, Pari... |
OMIM:618766 |
Bohring-Opitz Syndrome |
|
Micrognathia, Flexion contracture, Hypoplasia of the brainstem, Atrial septal defect, Agenesis of... |
OMIM:605039 |
Chromosome 5P13 Duplication Syndrome |
|
Single transverse palmar crease, Brachycephaly, Compulsive behaviors, Abnormal repetitive manneri... |
OMIM:613174 |
16P12.1P12.3 Triplication Syndrome |
|
Unilateral ptosis, Abnormal tricuspid valve morphology, Atrial septal defect, Prominent fingertip... |
ORPHA:485405 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Epicanthus, Sandal gap, Microcephaly, Aggressive behavior, Obesity, Brachycephaly,... |
OMIM:617752 |
Phenobarbital Embryopathy |
|
Mandibular prognathia, Epicanthus, Microcephaly, Aplasia/Hypoplasia of fingers, Low-set ears, Abn... |
ORPHA:1919 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Ptosis, Telecanthus, Abnormal pinna morphology, Short palpebral fissure, Proximal pla... |
OMIM:217980 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Frontal bossing, Inguinal hernia, Abnormal mitral valve morphology, Short s... |
ORPHA:1292 |
Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Dextrotransp... |
OMIM:618619 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Micrognathia, Broad hallux, Tapered finger, Short toe, 2-3 toe syndactyly, Wide nasal bridge, Con... |
OMIM:618659 |
Emanuel Syndrome |
|
Congenital hip dislocation, Multiple joint contractures, Hooded eyelid, Congenital diaphragmatic ... |
ORPHA:96170 |
Joubert Syndrome 18 |
|
Joint laxity, Bowing of the long bones, Trident pelvis, Ventricular septal defect, Agenesis of ce... |
OMIM:614815 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Optic disc pallor, Short stature, Micrognathia, Hypoplasia of the pons, Micro... |
OMIM:616171 |
White-Sutton Syndrome |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Micrognathia, Brachycephaly, Tics, Atrial... |
OMIM:616364 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Single transverse palmar crease, Triangular shaped distal phalanx of the thumb, Upper limb muscle... |
ORPHA:370010 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Facial hypotonia, Lacrimal duct stenosis, Cardiomegaly, Microcephaly, ... |
OMIM:618798 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... |
ORPHA:1263 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
3Q13 Microdeletion Syndrome |
|
Epicanthus, Abnormality of the hand, Joint stiffness, Wide nasal bridge, Macrocephaly, Agenesis o... |
ORPHA:1621 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Turricephaly, Craniosynostosis, Micrognathia, Obesity, ... |
ORPHA:171839 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Single transverse palmar crease, Micrognathia, Brachycephaly, Advanced eruption of teeth, Distall... |
OMIM:619148 |
Masa Syndrome |
|
Short stature, Camptodactyly of finger, Hand clenching, Clinodactyly of the 5th finger, Agenesis ... |
ORPHA:2466 |
Coffin-Siris Syndrome 7 |
|
Bicuspid aortic valve, Severe temper tantrums, Chiari type I malformation, Compulsive behaviors, ... |
OMIM:618027 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Micrognathia, Double outlet right ventricle, Brachycephaly... |
OMIM:220210 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Decreased head circumferen... |
ORPHA:500166 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Cerebellar vermis hypoplasia, Flat occiput, Micrognathia, Partial agenesis of the corpus callosum... |
ORPHA:300570 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Hyperactivity, Small for gestational age, Short stature, Trigonocephaly, M... |
OMIM:610883 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Small for gestational age, Hypoplasia of the ... |
OMIM:607143 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Abnormal shoulder morphology, Mesomelia, Abnormal mitral valve morphology, Hernia o... |
ORPHA:1277 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Ptosis, Brachydactyly, Severe short stature, Flat occiput, Bilateral singl... |
ORPHA:2511 |
Rhizomelic Syndrome, Urbach Type |
|
Acne, Short stature, Rhizomelia, Micrognathia, Abnormality of the humerus, Preaxial hand polydact... |
ORPHA:3098 |
Pentasomy X |
|
Low-set, posteriorly rotated ears, Short stature, Camptodactyly of finger, Micrognathia, Microcep... |
ORPHA:11 |
Mosaic Trisomy 1 |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Congenital diaphragmatic hernia, F... |
ORPHA:1692 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypop... |
OMIM:604213 |
4Q21 Microdeletion Syndrome |
|
Frontal bossing, Ptosis, Toe syndactyly, Micromelia, Tremor, Abnormal repetitive mannerisms, Syno... |
ORPHA:238750 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Microcephaly, Aggressive behavior, Wide nasal bridge, Brachycephaly, Hypoplasia of... |
OMIM:300958 |
Adenylosuccinate Lyase Deficiency |
|
Flat occiput, Hypointensity of cerebral white matter on MRI, Microcephaly, Brachycephaly, Low-set... |
ORPHA:46 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Cerebellar atrophy, Epicanthus, Ventricular septal defect, Rocker bottom foot, Posteriorly rotate... |
OMIM:618506 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Single transverse palmar crease, Micromelia, Finger joint hypermobility, Atrial septal defect, Pa... |
OMIM:618870 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Micrognathia... |
OMIM:610759 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Generalized dystonia, Short stature, Microcephaly, Partial agenesis of the corpus callosum, Hip d... |
OMIM:619025 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Failure to thrive, Recurrent skin infections, Single transverse palmar cre... |
ORPHA:391372 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Ch... |
OMIM:101200 |
Kleefstra Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Synophrys, Brachycephaly, Hernia, Thickened helices... |
ORPHA:261494 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Generalized dystonia, EEG with abnormally slow frequencies, Multifocal epileptiform discharges, B... |
ORPHA:70472 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect, Abnormality of the hand, Almond-shaped palpebral fissure, Wide nasal bridge... |
ORPHA:521308 |
Chromosome 20Q11-Q12 Deletion Syndrome |
|
Frontal bossing, Brachydactyly, Hearing impairment, Tarsal osteovalgus, Finger clinodactyly, Camp... |
OMIM:614257 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Hyperextensibility of the finger joints, Hyperactivity, Frontal bossing, Arachnodac... |
OMIM:309520 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Micrognathia, Unilambdoid synostosis, Wide nasal bridge, Brachyceph... |
OMIM:618577 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... |
OMIM:614039 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Single transverse palmar crease, Synophrys, Protruding ear, Atrial septal ... |
ORPHA:329224 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Short stature, Macrotia, Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainste... |
OMIM:617090 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Medial flaring of the eyebrow, Frontal bossing, Microcephaly, 2-3 toe cutaneous syndactyly, Brach... |
OMIM:617364 |
15Q24 Microdeletion Syndrome |
|
Joint laxity, Epicanthus, Small for gestational age, Short stature, Proximal placement of thumb, ... |
ORPHA:94065 |
Foxg1 Syndrome |
|
Dystonia, Short stature, Abnormal repetitive mannerisms, Bruxism, Stereotypical hand wringing, Ch... |
ORPHA:561854 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
Coffin-Siris Syndrome 5 |
|
Ptosis, Thick eyebrow, Sandal gap, Arachnodactyly, Short stature, Microcephaly, Long eyelashes, C... |
OMIM:616938 |
Gómez-López-Hernández Syndrome |
|
Turricephaly, Cerebellar vermis hypoplasia, Short stature, Telecanthus, Abnormal cerebellum morph... |
ORPHA:1532 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Joint laxity, Epicanthus, Posteriorly rotated ears, Aggressive behavior, Low-set ears, Conjunctiv... |
OMIM:619548 |
Chromosome 10Q26 Deletion Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous synd... |
OMIM:609625 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the maxilla, Conductive hea... |
ORPHA:314679 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Congenital hip dislocation, Limited elbow movement, Cardiomegaly, Synophrys, Camptodactyly of toe... |
OMIM:300280 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Cerebellar atrophy, Optic atrophy, Joint contracture, Periventricular leukomalacia, Agenesis of c... |
OMIM:618324 |
Sub-Cortical Nodular Heterotopia |
|
Abnormal basal ganglia morphology, EEG with focal slow activity, EEG with focal spikes, Hypoplasi... |
ORPHA:101029 |
Congenital Disorder Of Glycosylation, Type Il |
|
Cerebellar atrophy, Frontal bossing, Microcephaly, Pericardial effusion, Hip dislocation, Brachyc... |
OMIM:608776 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Turricephaly, Epicanthus, Single transverse palmar crease, Telec... |
OMIM:601224 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Failure to thrive, Small for gestational age, Genu valgum, Slender long bones with na... |
OMIM:608154 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Large for gesta... |
OMIM:213980 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Large placenta, Umbilical hernia, Polyhydramnios |
ORPHA:254534 |
De Barsy Syndrome |
|
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Cerebellar vermis hypoplasia, Gene... |
ORPHA:2962 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Limitation of joint mobility, Coxa vara, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Inguinal hernia, Epicanthus, Ventricular septal defect, Short stature, Small for gestational age,... |
OMIM:314320 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
20Q11.2 Microdeletion Syndrome |
|
Frontal bossing, Brachydactyly, Hearing impairment, Finger clinodactyly, Camptodactyly, Intrauter... |
ORPHA:444051 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Absent septum pellucidum, Optic nerve hypoplasia, Absent thumb, Microc... |
OMIM:609053 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Patellar hypoplasia, Protruding ear, Congenital contracture, Atrial septal defect, Clinodactyly o... |
ORPHA:261279 |
Kabuki Syndrome 2 |
|
Micrognathia, Protruding ear, Atrial septal defect, Prominent fingertip pads, Atrioventricular ca... |
OMIM:300867 |
3C Syndrome |
|
Micrognathia, Abnormal tricuspid valve morphology, Aplasia/Hypoplasia of the cerebellum, Atrial s... |
ORPHA:7 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Increased bone mineral density, Facial palsy, Craniosynostosis, Optic atrophy, Brachyc... |
ORPHA:178377 |
2Q32Q33 Microdeletion Syndrome |
|
Broad hallux phalanx, Arachnodactyly, Short stature, Micrognathia, Microcephaly, Aggressive behav... |
ORPHA:251019 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Atrial septal defect, Perimembranous ventricular septal defect, Ve... |
OMIM:600987 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Frontal bossing, Ptosis, Ventricular septal defect, Rocker bottom foot, Proxim... |
OMIM:619762 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contracture, 1-4 toe s... |
OMIM:617201 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... |
ORPHA:1209 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Micrognathi... |
OMIM:618821 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Flat occiput, Micrognathia, Secundum atrial septal defect, Brachycephaly, Protruding ... |
OMIM:249420 |
Brachydactyly, Type A1 |
|
Short proximal phalanx of thumb, Radial deviation of the 3rd finger, Radial deviation of the 4th ... |
OMIM:112500 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Cerebral calcification, Flat occiput, Micrognathia, Brachycephaly, Conductive hearing impairment,... |
ORPHA:2780 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Aplasia/Hypoplasia of the cerebellar vermis, Hand tremor, Agenesis of corpus callosum, Cerebral c... |
ORPHA:401830 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Ptosis, Epicanthus, Posteriorly rotated ears, Bilateral single transverse palmar creases, Microgn... |
ORPHA:444002 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hooded eyelid, Right ventricular dilatation, Atrial septal defect, Prominent fingertip pads, Agen... |
OMIM:612863 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Flat occiput, Synophrys, Brachycephaly, Conotruncal defect, Subcortical cerebral atrophy, Agenesi... |
ORPHA:96147 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Frontal bossing, Epicanthus, Short stature, Posteriorly rotated ears, Hearing impairment, Microgn... |
OMIM:613604 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Transposition of the great arteries |
OMIM:619910 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Failure to thrive, Epicanthus, Ventricular septal defect, Short stature,... |
OMIM:612946 |
Tonne-Kalscheuer Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Microcephaly, Micrognathia, Tremor, Aggressive be... |
OMIM:300978 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Epicanthus, Short stature, Microcephaly, Brachycephaly, Growth delay, Upslanted palpebral fissure... |
ORPHA:2528 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Aplasia/Hypoplasia of the cerebellar vermis, Limb tremor, Generalized amyotrophy, Agenesis of cor... |
ORPHA:401820 |
Cebalid Syndrome |
|
Turricephaly, Posteriorly rotated ears, Abnormal pinna morphology, Congenital diaphragmatic herni... |
OMIM:618774 |
Thanatophoric Dysplasia |
|
Atrial septal defect, Frontal bossing, Cloverleaf skull, Hearing impairment, Joint stiffness, Mic... |
ORPHA:2655 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Increased bone mineral density, Bowing of the long bones, Camptodac... |
ORPHA:628 |
Grant Syndrome |
|
Bowing of the long bones, Micrognathia, Abnormal rib morphology, Decreased skull ossification, Jo... |
ORPHA:2097 |
Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Short stature, Ventricular septal defect, Abnormal location of ears, Brachycepha... |
OMIM:218350 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Joint laxity, Limited elbow extension and supination, Ventricular septal defect, Short thumb, Syn... |
ORPHA:401935 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Micrognathia, Hypodysplasia of the corpus callosum, Brachycephaly, Atrial septal defect, Agenesis... |
OMIM:257300 |
Snijders Blok-Campeau Syndrome |
|
Joint laxity, Frontal bossing, Midface retrusion, Inguinal hernia, Epicanthus, Wide nasal bridge,... |
OMIM:618205 |
Holt-Oram Syndrome |
|
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Joint stiffness, Abnorma... |
ORPHA:392 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Bicuspid aortic valve, Micrognathia, Brachycephaly, Knee flexion contracture, Atrial ... |
OMIM:121050 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Caudate atrophy, Optic atrophy, Choreoathetosis, Aplasia of the left hemidiaphragm, Dystonia, Int... |
OMIM:618238 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, Synophrys, Brachycephaly, Coxa vara, Clinodactyly of the 5th fin... |
OMIM:614701 |
Sandestig-Stefanova Syndrome |
|
Sparse medial eyebrow, Bilateral single transverse palmar creases, Laterally extended eyebrow, Hi... |
OMIM:618804 |
Craniosynostosis 3 |
|
Hallux valgus, Ptosis, Single transverse palmar crease, Sagittal craniosynostosis, Partial agenes... |
OMIM:615314 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Cone-shaped epiphyses of the phalanges of the hand, Short 4t... |
ORPHA:420794 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Skeletal muscle atrophy, Microcephaly, Hypoplasia of the pons, Dysplastic cor... |
OMIM:618276 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Congenital hip dislocation, Ventricular septal defect, Rocker bottom fo... |
ORPHA:3078 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Multiple joint contractures, Abnormal occipital bone morphology, Hypoplasi... |
ORPHA:468631 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, Brachycephaly, Protruding ear,... |
OMIM:156200 |
Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Agyria, Microcephaly, Hypoplasia of the brainstem, Lissencephaly, H... |
OMIM:611603 |
Coffin-Siris Syndrome |
|
Clinodactyly, Simplified gyral pattern, Aspiration pneumonia, Hernia, Atrial septal defect, Intra... |
ORPHA:1465 |
Lessel-Kreienkamp Syndrome |
|
Atrial septal defect, Frontal bossing, Epicanthus, Bicuspid aortic valve, Aggressive behavior, Sc... |
OMIM:619149 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Bilateral ptosis, Brachycephaly, Chiari type I malformation, Inappropriate laughter, Hypoplasia o... |
OMIM:618859 |
Christianson Syndrome |
|
Mandibular prognathia, Cerebellar atrophy, Decreased muscle mass, Cachexia, Microcephaly, Dysphag... |
ORPHA:85278 |
Gomez-Lopez-Hernandez Syndrome |
|
Fusion of the cerebellar hemispheres, Hyperactivity, Agenesis of cerebellar vermis, Cerebellar ve... |
OMIM:601853 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Hypoplasia of the pons, Synophrys, Flexion contracture, Clinodactyly of the 5th finger, Abnormal ... |
OMIM:619293 |
Tetrasomy X |
|
Epicanthus, Upslanted palpebral fissure, Joint hyperflexibility, Radioulnar synostosis, Hip dyspl... |
ORPHA:9 |
Pontocerebellar Hypoplasia, Type 11 |
|
Skeletal muscle atrophy, Short stature, Microcephaly, Hypoplasia of the pons, Abnormal repetitive... |
OMIM:617695 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Postaxial polydactyly, Micrognathia, Highly arched eyebrow, Bilateral ... |
ORPHA:404440 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Mandibular prognathia, Tapered finger, Dolichocephaly, Conductive hearing impairment, Sensorineur... |
OMIM:618672 |
Ritscher-Schinzel Syndrome 4 |
|
Brachycephaly, Abnormal repetitive mannerisms, Agenesis of corpus callosum, Dandy-Walker malforma... |
OMIM:619435 |
Noonan Syndrome 13 |
|
Micrognathia, Atrial septal defect, Cavum septum pellucidum, Joint laxity, Highly arched eyebrow,... |
OMIM:619087 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect, Eczema, Short hallux, Long fingers, Tongue thrusting, Wide nasal bridg... |
OMIM:620393 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Cupped... |
OMIM:250420 |
1Q21.1 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Agenesis of corpus callosum, Broad hallux phalanx, Short stature,... |
ORPHA:250989 |
Tetralogy Of Fallot |
|
Dolichocephaly, Clinodactyly of the 5th finger, Intrauterine growth retardation, Tetralogy of Fal... |
ORPHA:3303 |
Sotos Syndrome |
|
Mandibular prognathia, Partial agenesis of the corpus callosum, Increased body weight, Otitis med... |
OMIM:117550 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Proximal placement of thumb, Tremor, Conductive hearing impairment, Atrial... |
OMIM:601808 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, Cardiomegaly, B... |
OMIM:245600 |
Immunodeficiency 110 With Lymphoproliferation |
|
Secundum atrial septal defect, Patent foramen ovale |
OMIM:614868 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Microretrogna... |
OMIM:200990 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Small for gestational age, Reduced cerebral white matter volume, Micrognathia... |
OMIM:615095 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Short foot, Growth delay, Aplasia... |
ORPHA:52056 |
Pseudoachondroplasia |
|
Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Osteoarthritis, Metaphyse... |
OMIM:177170 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... |
ORPHA:457395 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Ventricular septal defect |
OMIM:619909 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Joint laxity, Atrial septal defect, Epicanthus, Arachnodactyly, Short stature, Micrognathia, Aggr... |
OMIM:300986 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Low-set, posteriorly rotated ears, Frontal bossing, Sandal gap, Arachnodactyly, Short stature, Mi... |
ORPHA:1035 |
2P15P16.1 Microdeletion Syndrome |
|
Brachycephaly, Protruding ear, Bilateral single transverse palmar creases, Facial palsy, Tapered ... |
ORPHA:261349 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Type B brachydactyly, Short stature, Camptodactyly of finger, Broad thumb, Short distal phalanx o... |
ORPHA:1471 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Congenital hip dislocation, Bicuspid aortic valve, Atrial septal... |
ORPHA:457279 |
Marshall-Smith Syndrome |
|
Large sternal ossification centers, Synophrys, Distal widening of metacarpals, Coxa vara, Aspirat... |
OMIM:602535 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Epicanthus, Dystonia, Thick eyebrow, Microcephaly, Micrognathia, Postnatal growth retardation, Tr... |
ORPHA:480907 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Abnormal pinna morphology, Single transverse palmar crease, H... |
OMIM:610253 |
Melnick-Needles Syndrome |
|
Short humerus, Hypoplastic scapulae, Micrognathia, Coxa valga, Pectus excavatum, Flared metaphysi... |
OMIM:309350 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... |
OMIM:607323 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Skeletal muscle atrophy, Cerebellar vermis hypoplasia, Short stature, Highly arched eyebrow, Micr... |
OMIM:615802 |
Martsolf Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Brachycephaly, Finger joint hypermo... |
OMIM:212720 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Short stature, Long nose, Wide nasal bridge, Brachycephaly, Dextrotran... |
OMIM:619995 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap... |
OMIM:608728 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Ventricular septal defect, Camptodactyly of f... |
ORPHA:1488 |
Brachydactyly, Type A1, C |
|
Brachydactyly, Short stature, Short middle phalanx of the 2nd finger, Short middle phalanx of the... |
OMIM:615072 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Singl... |
OMIM:300998 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect |
OMIM:618665 |
Brachydactyly, Type A2, With Microcephaly |
|
Microcephaly, Clinodactyly of the 2nd toe, Absent middle phalanx of 2nd finger, Thumbs hypoplasti... |
OMIM:211369 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Sandal gap, Conductive hearing impairment, S... |
ORPHA:217017 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Turricephaly, Facial hypotonia, Posteriorly rotated ears, Single transverse palmar crease, Microg... |
OMIM:619320 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Frontal bossing, Increased bone mineral density, Epicanthus, Coxa valga, Micrognathia, Wide anter... |
ORPHA:163649 |
Cog7-Cdg |
|
Cerebellar atrophy, Failure to thrive, Small for gestational age, Micrognathia, Postnatal growth ... |
ORPHA:79333 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Skeletal muscle atrophy, Hypoplasia of the maxilla, Flexion contracture, Hyperextensibility at wr... |
ORPHA:481152 |
Desmosterolosis |
|
Micromelia, Micrognathia, Pachygyria, Agenesis of corpus callosum, Low-set, posteriorly rotated e... |
ORPHA:35107 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mandibular prognathia, Tremor, Cortical dysplasia, Simplified gyral pattern, Distal lower limb am... |
OMIM:300354 |
14Q11.2 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Toe syndactyly, Ventricular septal defect, Highly ... |
ORPHA:261120 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Epicanthus, Telecanthus, Optic nerve hypoplasia, Thickened helices, Highly arched eyebrow, Synoph... |
OMIM:618828 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Epicanthus, Short stature, Telecanthus, Microcephaly, Aggressive behavior, Upslant... |
OMIM:615286 |
Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... |
ORPHA:85169 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Simplified gyral pa... |
OMIM:613153 |
Developmental And Epileptic Encephalopathy 88 |
|
Hypoplasia of the pons, Partial agenesis of the corpus callosum, Hypsarrhythmia, Growth delay, In... |
OMIM:618959 |
Mend Syndrome |
|
Micrognathia, Dandy-Walker malformation, Hyperactivity, Broad hallux, Short stature, Wide anterio... |
ORPHA:401973 |
White Forelock With Malformations |
|
Atrial septal defect |
OMIM:277740 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Brachydactyly, Brachycephaly, Metacarpal synostosis, Midface retrusion, Hearing impairment |
ORPHA:35099 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Single transverse palmar crease, Atrial septal defect, Cavum septum pelluc... |
ORPHA:464738 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the... |
OMIM:609616 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Cerebellar atrophy, Increased skull ossification, Optic atrophy, Wide nasal bridge, Cerebral atro... |
OMIM:619690 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Single transverse palmar crease, Micrognathia, Subvalvular aortic stenosis, Atrial septal defect,... |
OMIM:614114 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Inguinal hernia, Sandal gap, Impulsivity, Micrognathia, Aggressive behavio... |
OMIM:618914 |
Hamamy Syndrome |
|
Osteopenia, Micrognathia, Brachycephaly, Atrial septal defect, Clinodactyly of the 5th finger, Lo... |
OMIM:611174 |
Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Posteriorly rotated ears, Congenital diaphragmatic hernia... |
OMIM:222448 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Brachycephaly, Prominent interphalangeal joi... |
OMIM:618371 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia, Partial agenesis of the corpus callosum, Increased skull ossification, Cerebral atroph... |
ORPHA:85179 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Short stature, Hand tremor, Hypoplasia of the corpus callosum, Dysphagia, Rec... |
OMIM:617862 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Epicanthus, Ventricular septal defect, Dextrocardia, Eczema, Micrognathia... |
ORPHA:96097 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Microcephaly, Optic atrophy, Cerebral atrophy, Growth delay, Failure to thrive, Ag... |
OMIM:274270 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Fetal Akinesia Syndrome, X-Linked |
|
Telecanthus, Narrow palpebral fissure, Stillbirth, Blepharophimosis, Agenesis of corpus callosum |
OMIM:300073 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Stevenson-Carey Syndrome |
|
Posteriorly rotated ears, Brachycephaly, Hip dysplasia, Cerebellar hypoplasia, Hypoplasia of the ... |
OMIM:611961 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis, Short metatarsal, ... |
OMIM:251450 |
Lissencephaly, X-Linked, 1 |
|
Postnatal growth retardation, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria |
OMIM:300067 |
Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Severe short stature, Ventricular septal defect, Short sta... |
ORPHA:3255 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Microcephaly, Micrognathia, Flexion contracture, Brachycephaly, Hypsarrhythmia, Cerebral cortical... |
OMIM:620240 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Cardiomyopathy, Patent foramen ovale |
OMIM:616866 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Epicanthus, Cerebellar vermis hypoplasia, Overlapping toe, Flat occiput, Telecanthus, Thick eyebr... |
OMIM:619383 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... |
ORPHA:1275 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal metaphysis morphology, Abnormal rib morphology, Narrow chest, Mesomelic/rhizomelic limb ... |
ORPHA:1354 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dys... |
ORPHA:300573 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Micrognathia, Delayed ... |
OMIM:210710 |
Imagawa-Matsumoto Syndrome |
|
Mandibular prognathia, Macrocephaly, Large hands, Downslanted palpebral fissures, Camptodactyly, ... |
OMIM:618786 |
Atelosteogenesis Type Iii |
|
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Micrognathia, ... |
ORPHA:56305 |
Craniosynostosis 6 |
|
Cerebellar atrophy, Bicoronal synostosis, Turricephaly, Craniosynostosis, Microcephaly, Parietal ... |
OMIM:616602 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Joint laxity, Polyhydramnios, Large placenta, Flexion contracture, Camptodactyly, Umbilical herni... |
ORPHA:254528 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bow... |
OMIM:602111 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Micrognathia, Pachygyria, Agenesis of corpus callosum, Patent foramen ovale, Wide nasal bridge, L... |
OMIM:613457 |
Greenberg Dysplasia |
|
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Multiple prenatal fractures, La... |
OMIM:215140 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Short stature, Dextrocardia, Camptodactyly of finger, Micrognathia, Wi... |
ORPHA:2863 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Atrial septal defect |
OMIM:618109 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Atrial septal defect, Epicanthus, Cerebellar vermis hypoplasia, Overlapping toe, Ventricular sept... |
OMIM:618494 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Epicanthus, Short stature, Osteolysis involving bones of the upper limbs, Flexion con... |
ORPHA:88630 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Epicanthus, Telecanthus, Ventricular septal defect, Overlapping toe, Upslan... |
OMIM:618974 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Coxa vara, Hypoplastic iliac wing, Atrial septal defect, Clinodactyly of the 5th fing... |
ORPHA:2637 |
Chopra-Amiel-Gordon Syndrome |
|
Short stature, Microcephaly, Postnatal growth retardation, Almond-shaped palpebral fissure, Brach... |
OMIM:619504 |
Thiemann Disease, Familial Form |
|
Abnormal metaphysis morphology, Limitation of joint mobility, Abnormal epiphysis morphology, Brac... |
ORPHA:3314 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Situs inversus totalis |
OMIM:202650 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sandal gap, Postaxial polydactyly, Micrognathia, Synophrys, Wide nasal bridge, Brachycephaly, Ups... |
OMIM:615761 |
Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hy... |
OMIM:180849 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... |
OMIM:300863 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Conductive hearing impairment, Atrial sep... |
ORPHA:79113 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Frontal bossing, Optic atrophy, Wide nasal bridge, Dysphagia, Brachycephaly, Bilateral sensorineu... |
OMIM:264470 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Frontal bossing, Midface retrusion, Single transverse palmar crease, EEG abnormality, Self-injuri... |
OMIM:617820 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Calf muscle hypertrophy, Agenesis of corpus callosum, Ptosis |
OMIM:618197 |
7Q11.23 Microduplication Syndrome |
|
Single transverse palmar crease, Congenital diaphragmatic hernia, Micrognathia, Simplified gyral ... |
ORPHA:96121 |
Alg9-Cdg |
|
Micrognathia, Brachycephaly, Right ventricular dilatation, Large fleshy ears, Narrow greater scia... |
ORPHA:79328 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Bicuspid aortic valve, Abnormal hand morphology, Osteolysis involving bones of the up... |
ORPHA:371428 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Enlargement of the costochondral junc... |
OMIM:600081 |
Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Brachycephaly, Atrial ... |
OMIM:244450 |
Codas Syndrome |
|
Delayed eruption of teeth, Ptosis, Short metacarpal, Congenital hip dislocation, Ventricular sept... |
ORPHA:1458 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Relative macrocephaly, Frontal bossing, Telecanthus, Palpebral edema, Aplasia/Hypoplasia of the c... |
ORPHA:397709 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Micrognathia, Microcephaly, EEG with burst suppression, Hand clenching, Lissencephaly, Cerebellar... |
OMIM:616342 |
Stxbp1-Related Encephalopathy |
|
Cerebral white matter atrophy, Hyperactivity, EEG with abnormally slow frequencies, Tremor, Dyspl... |
ORPHA:599373 |
Emanuel Syndrome |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Micrognathia, Atrial septal defect, ... |
OMIM:609029 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Hernia, Aplasia/Hypoplasi... |
ORPHA:280 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Microretrognathia, Angulated humerus, Bowing of the long bones, Rhizomelia, Recurrent... |
OMIM:616229 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly |
ORPHA:171703 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Cerebellar atrophy, Ventricular septal defect, Microcephaly, Focal polymic... |
OMIM:619103 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Acne, Camptodactyly of finger,... |
ORPHA:137834 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Proximal placement of thumb, Micrognathia, Conductive hearing impairment, Atrial septal defect, S... |
OMIM:610536 |
Sweeney-Cox Syndrome |
|
Flat occiput, Uplifted earlobe, Micrognathia, Brachycephaly, 2-5 toe syndactyly, Patent foramen o... |
OMIM:617746 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Frontal bossing, Microcephaly, Optic atrophy, Osteoporosis, Joint hyperflexibility, Short distal ... |
ORPHA:2787 |
Acromicric Dysplasia |
|
Abnormal eyebrow morphology, Short metacarpal, Severe short stature, Joint stiffness, Decreased n... |
ORPHA:969 |
Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Osteoarthritis, Brachycephaly, Atrial septal defect, Bilateral coxa valga,... |
OMIM:615582 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Synophrys, Epicanthus inversus, Atrial septal defect, Conductive hea... |
OMIM:257920 |
Trichohepatoneurodevelopmental Syndrome |
|
Synophrys, Brachycephaly, Bilateral coxa valga, Clinodactyly of the 5th finger, Simple ear, Joint... |
OMIM:618268 |
Hypophosphatasia |
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Bowing of the long bones, Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, Ab... |
ORPHA:436 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Short stature, Microcep... |
ORPHA:261236 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Unilateral ptosis, Overriding aorta, Single transverse palmar crease, Micrognathia, Microcephaly,... |
ORPHA:3304 |
Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Brachycephaly, Chiari type I malformation, Shallow orbits, Clino... |
ORPHA:1272 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
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Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Downslanted ... |
OMIM:613670 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Turricephaly, Ptosis, Hypoplasia of the maxilla, Conductive hearing impairment, ... |
ORPHA:93262 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Frontal bossing, Short metacarpal, Inguinal hernia, Ventricular septal defect, Sho... |
ORPHA:166035 |
Craniosynostosis, Herrmann-Opitz Type |
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Finger syndactyly, Turricephaly, Short stature, Craniosynostosis, Micrognathia, Micromelia, Split... |
ORPHA:2145 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Brachycephaly, Protruding ear, Posterior pla... |
OMIM:620330 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly, Partial atrioventri... |
OMIM:615996 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
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Mandibular prognathia, Frontal bossing, Ptosis, Epicanthus, Short stature, Microcephaly, Sparse e... |
OMIM:619989 |
Keipert Syndrome |
|
Joint laxity, Unilateral ptosis, Midface retrusion, Broad hallux, Sensorineural hearing impairmen... |
OMIM:301026 |
Microcephaly-Cardiomyopathy Syndrome |
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Ventricular septal defect, Sandal gap, Short stature, Microcephaly, Dilated cardiomyopathy, Clino... |
ORPHA:2515 |
Cleidorhizomelic Syndrome |
|
Rhizomelia, Bilateral single transverse palmar creases, Short middle phalanx of the 5th finger, C... |
ORPHA:1453 |
Chromosome 15Q13.3 Deletion Syndrome |
|
Abnormal pinna morphology, Synophrys, Abnormality of the palpebral fissures, Clinodactyly of the ... |
OMIM:612001 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Pelvic bone exostoses, Coxa valga, Broad clavicles, Capitate-hamate ... |
OMIM:304150 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Epicanthus, Facial hypotonia, Microcephaly, Repetitive compulsive behavior, 2-3 toe cutaneous syn... |
OMIM:300260 |
Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect |
OMIM:608688 |
Chromosome 3Q13.31 Deletion Syndrome |
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Epicanthus, Proximal placement of thumb, Dolichocephaly, Brachycephaly, Plagiocephaly, Downslante... |
OMIM:615433 |
Juberg-Hayward Syndrome |
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Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of... |
ORPHA:2319 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Inguinal hernia, Small for gestational age, Short stature, Posteriorly rotated ears, Reduced bone... |
OMIM:618392 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Cerebellar atrophy, Short stature, Microcephaly, Brachycephaly, Cerebral atrophy, Hypoplasia of t... |
ORPHA:320385 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Cerebellar vermis hypoplasia, Septo-optic dysplas... |
OMIM:619841 |
Rubinstein-Taybi Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Broad hallux phalanx, Short stat... |
ORPHA:783 |
Acrodysostosis |
|
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Brachycephaly, Hy... |
ORPHA:950 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Mandibular prognathia, Relative macrocephaly, EEG with polyspike wave complexes, Hyperactivity, D... |
OMIM:617169 |
Fibrochondrogenesis 2 |
|
Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplast... |
OMIM:614524 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Abnormal pinna morphology, Pericardial effusion, Perianal abscess, Small hand, Wide nasal bridge,... |
OMIM:614684 |
Alopecia-Intellectual Disability Syndrome |
|
Short stature, Hearing impairment, Microcephaly, Split hand, Flexion contracture, Growth delay, E... |
ORPHA:2850 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Microcephaly, EEG with burst suppression, Split hand, Wide nasal bridge, Neur... |
ORPHA:168486 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
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Frontal bossing, Hyperactivity, Epicanthus, Sandal gap, Posteriorly rotated ears, Tapered finger,... |
OMIM:618430 |
Smith-Magenis syndrome |
|
Hyperactivity, Short stature, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly |
DECIPHER:8 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Cerebellar vermis hypoplasia, Single transverse palmar crease, Micrognathia, Conducti... |
OMIM:611209 |
Osebold-Remondini Syndrome |
|
Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,... |
OMIM:112910 |
20P12.3 Microdeletion Syndrome |
|
Broad hallux phalanx, Epicanthus, Short stature, Thickened helices, Hypoplasia of the maxilla, Wi... |
ORPHA:261295 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Telecanthus, Short stature, Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the ma... |
OMIM:109120 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Recurrent skin infections, Short stature, Tremor, Leukoencephalopathy, Gro... |
OMIM:617744 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Sandal gap, Short stature, Highly arched eyebrow, Microcephaly, Synophrys, Polypha... |
ORPHA:228402 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Small for gestational age, Short stature, Microcephaly, Partial agenesis of the corpus callosum, ... |
OMIM:618346 |
Nicolaides-Baraitser Syndrome |
|
Short palm, Severe short stature, Sandal gap, Eczema, Highly arched eyebrow, Microcephaly, Curly ... |
ORPHA:3051 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Syndactyly, Inguinal hernia, Short stature, Hearing impairment, Craniosynostosis, H... |
OMIM:619451 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Joint stiffness, Cupped ribs, Metaphyseal widening, Coxa vara, Femo... |
OMIM:608940 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle... |
OMIM:615297 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Low-set, posteriorly rotated ears, Ptosis, Epicanthus, Ventricular septal defe... |
ORPHA:457193 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Cerebellar vermis hypoplasia, Congenital hip dislocation, Intrauterine growth retardation, Pachyg... |
ORPHA:357058 |
Rere-Related Neurodevelopmental Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Ptosis, Cerebellar vermis hypoplasia, Ventric... |
ORPHA:494344 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Frontal bossing, Small for gestational age, Microcephaly, Tremor, Wide nasal bridge, Cerebral atr... |
OMIM:312170 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... |
OMIM:609945 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Skeletal muscle atrophy, Dysplastic corpus callosum, Flexion contracture, Optic atrophy, Talipes ... |
OMIM:613162 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Cerebellar atrophy, Dystonia, Facial hypotonia, Short stature, Microcephaly, Overweight, Generali... |
ORPHA:280763 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormal ri... |
ORPHA:3035 |
Warburg Micro Syndrome 3 |
|
Decreased muscle mass, Micrognathia, Microcephaly, Postnatal growth retardation, Macrotia, Flexio... |
OMIM:614222 |
White-Sutton Syndrome |
|
Congenital diaphragmatic hernia, Hypoplasia of the pons, Brachycephaly, Subcortical cerebral atro... |
ORPHA:468678 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Microcephaly, Tremor, Aggressive behavior, Optic atrophy, Elbow flexion contractur... |
OMIM:619470 |
Microhydranencephaly |
|
Skeletal muscle atrophy, Multiple joint contractures, Short stature, Microcephaly, Macrotia, Grow... |
OMIM:605013 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Intrauterine ... |
ORPHA:1506 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Micrognathia, Intrauterine growth retardation, Agenesis of corpus callos... |
ORPHA:2461 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of the maxilla, Protruding ear, Abnormal tricuspid valve morp... |
ORPHA:192 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Skeletal muscle atrophy, Inguinal hernia, Microcephaly, Abnormal globus pallidus morphology, Brac... |
OMIM:618603 |
Schaaf-Yang Syndrome |
|
Mandibular prognathia, Flexion contracture, Short stature, Tapered finger, Obesity, Low-set ears,... |
OMIM:615547 |
Brachydactyly, Type A3 |
|
Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... |
OMIM:112700 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Bicoronal synostosis, Microcephaly, Long nose, Postnatal growth retardation, Tracheobronchomalaci... |
OMIM:619184 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Telecanthus, Failure to thrive in infancy, Posteriorly rotated ears, Abnormal ... |
ORPHA:313781 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Cerebellar vermis hypoplasia, Epicanthus, Aggressive behavior, Secundum atrial sep... |
OMIM:620242 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Beaded rib... |
OMIM:166210 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:614300 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... |
OMIM:601382 |
Williams-Beuren Region Duplication Syndrome |
|
Cerebellar vermis hypoplasia, Small for gestational age, Short stature, Micrognathia, Brachycepha... |
OMIM:609757 |
Terminal Osseous Dysplasia |
|
Syndactyly, Ptosis, Multiple joint contractures, Epicanthus, Camptodactyly of finger, Telecanthus... |
OMIM:300244 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Unilateral ptosis, Bicuspid aortic valve, Micrognathia, Generalized joint ... |
ORPHA:508498 |
Megabladder, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Bicoronal synostosis, Flat occiput, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons,... |
OMIM:618736 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Epicanthus, Arachnodactyly, Short stature, Micrognathia, Microcephaly, Calcaneovalgus deformity, ... |
ORPHA:562528 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Epicanthus, Ventricular septal defect, Single transverse palmar crease, Uplifted... |
OMIM:616449 |
Abruzzo-Erickson Syndrome |
|
Epicanthus, Toe syndactyly, Short stature, Conductive hearing impairment, Short toe, Sensorineura... |
ORPHA:921 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Frontal bossing, Micrognathia, Tapered finger, Aggressive behavior, Partial agenesis of the corpu... |
OMIM:620250 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Epicanthus, Short femur, Ventricular septal defect, Microcephaly, Thick corpus callosum, Brachyce... |
OMIM:617798 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Masa Syndrome |
|
Short stature, Microcephaly, Talipes equinovarus, Macrocephaly, Agenesis of corpus callosum, Addu... |
OMIM:303350 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Small for gestational age, Short stature, Microcephaly, Hypoplasia of the ... |
ORPHA:93950 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dystonia, Dextrocardia, Congenital diaphragmatic hernia, Micrognathia, Craniosynostosis, Conducti... |
ORPHA:261197 |
Short Stature-Micrognathia Syndrome |
|
Cerebellar atrophy, Joint laxity, Failure to thrive, Ventricular septal defect, Short stature, Rh... |
OMIM:617164 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, Brachycephaly, Coxa vara, Hypoplastic inferior il... |
ORPHA:1452 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Toe syndactyly... |
ORPHA:959 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Congenital hip dislocation, Mild postnatal growth reta... |
ORPHA:456312 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Failure to thrive, Ventricular septal defect, Sensorineural hearing impairment, Drumstick termina... |
OMIM:612938 |
2Q37 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Compulsive behaviors, Short palm, Conductive hearing impairment,... |
ORPHA:1001 |
Gaba-Transaminase Deficiency |
|
EEG with burst suppression, Agenesis of corpus callosum, Cerebellar hypoplasia, Retrognathia, Dow... |
OMIM:613163 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Baraitser-Winter Syndrome 2 |
|
Ptosis, Telecanthus, Short stature, Abnormal pinna morphology, Highly arched eyebrow, Retrognathi... |
OMIM:614583 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Microcephaly, Abnormal cerebellum morphology, Periventricular cysts, Cerebral atrophy, Abnormal b... |
ORPHA:255182 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Epicanthus, Cerebellar vermis hypoplasia, Short stature, Rocker bottom foot, Sparse eyelashes, Mi... |
OMIM:620070 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Joint laxity, Syndactyly, Epicanthus, Ventricular septal defect, Megalencephaly, Progressive macr... |
OMIM:602501 |
Noonan Syndrome 11 |
|
Relative macrocephaly, Short stature, Posteriorly rotated ears, Palmoplantar cutis laxa, Bilatera... |
OMIM:618499 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Small for gestational age, Short stature, Micrognathia, Metaphyseal sclerosis, Microcephaly, Part... |
OMIM:616051 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoplasia of the pons, Diffuse white matter abnormalities, Hypoplasia of the brainstem, Agenesis... |
ORPHA:370959 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Single transverse palmar crease, Micrognathia, Atrial septal defect, Pachygyria, Agenesis of corp... |
OMIM:614866 |
Epilepsy, Progressive Myoclonic, 9 |
|
Short thumb, Generalized amyotrophy, Agenesis of corpus callosum, Simplified gyral pattern |
OMIM:616540 |
Distal Deletion 12Q |
|
Single transverse palmar crease, Micrognathia, Brachycephaly, Aplasia/Hypoplasia of the middle ph... |
ORPHA:96149 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Arachnodactyly, Craniosynostosis, Aggressive behavior, Joint hyperflex... |
ORPHA:261243 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Short stature, Microcephaly, Brachycephaly, Hypsarrhythmia, Choreoathetosis, Athetosis, Failure t... |
OMIM:309541 |
Houge-Janssens Syndrome 3 |
|
Frontal bossing, Inguinal hernia, Epicanthus, Single transverse palmar crease, Microcephaly, Musc... |
OMIM:618354 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Chiari type I malforma... |
OMIM:182212 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Secundum atrial septal defect |
OMIM:620194 |
Ravine Syndrome |
|
Anorexia, Abnormal auditory evoked potentials, Abnormal basal ganglia morphology, Decreased body ... |
ORPHA:99852 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar creas... |
OMIM:218330 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Tremor, Brachycephaly, Clinodactyly of the 5th finger, Chronic otitis medi... |
ORPHA:96264 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Recurrent fractures, Micromelia, Mi... |
ORPHA:2772 |
Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Dextrocardia |
ORPHA:2257 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Failure to thrive, Short stature, Microcephaly, Dysplastic corpus callosum, Recurrent pneumonia, ... |
OMIM:619179 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Ventricular septal defect, Aplasia/Hypoplasia... |
OMIM:113000 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Joint laxity, Cerebellar vermis hypoplasia, Facial hypotonia, Short statur... |
ORPHA:364028 |
19P13.3 Microduplication Syndrome |
|
Micrognathia, Hyperactivity, Osteoporosis, Microtia, Low-set ears, Long fingers, Cerebral atrophy... |
ORPHA:447980 |
C Syndrome |
|
Micromelia, Micrognathia, Dislocated radial head, Short metacarpal, Short stature, Wide nasal bri... |
OMIM:211750 |
Warburg Micro Syndrome 4 |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Decreased muscle mass, Short statu... |
OMIM:615663 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Cerebellar atrophy, Failure to thrive, Epicanthus, Ventricular septal defect, Abnormal cortical g... |
OMIM:614576 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Frontal bossing, Rhizomelia, Micromelia, Abnormality of the hand, Abnormal... |
ORPHA:1842 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi... |
OMIM:184253 |
7Q31 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of the maxilla, Hypoplasia of the semicircular canal, Atrial ... |
ORPHA:251061 |
Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
|
Femoral hernia, EEG with burst suppression, Dysgenesis of the basal ganglia, Wide nasal bridge, H... |
OMIM:620316 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Cortical dysplasia, Hip dislocation, Bilateral sensorineural hearing i... |
OMIM:619083 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Dolichocephaly... |
OMIM:617102 |
Trisomy 1Q |
|
Microretrognathia, Frontal bossing, Omphalocele, Toe syndactyly, Arachnodactyly, Camptodactyly of... |
ORPHA:261344 |
8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, Dextrocardia, Impulsivity, Micrognathia, Long fingers, Macrotia, Synop... |
ORPHA:96092 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Synophrys, Brachycephaly, Atrial septal defect, Clinodactyly of the 5th fi... |
OMIM:607872 |
Sugarman Brachydactyly |
|
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... |
OMIM:272150 |
Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Frontal bossing, Epicanthus, Ventricular septal defect, Posteriorly rotated ears, Micro... |
OMIM:615668 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Pectus excavatum, Pectus carinatum... |
OMIM:259440 |
Distal Deletion 3P |
|
Low-set, posteriorly rotated ears, Ptosis, Inguinal hernia, Epicanthus, Short stature, Telecanthu... |
ORPHA:1620 |
Waardenburg Syndrome Type 3 |
|
Telecanthus, Camptodactyly of finger, Hearing impairment, Microcephaly, Tracheomalacia, Joint sti... |
ORPHA:896 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Abnormal tibia morphology, Synophrys, Short palm, Atrial septal defect, Clinodactyl... |
ORPHA:251014 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Micrognathia, Cardi... |
ORPHA:3472 |
Desanto-Shinawi Syndrome |
|
Abnormal pinna morphology, Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing i... |
OMIM:616708 |
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Inguinal hernia, Short stature, Microcephaly, Protruding ear, Abnormal hip bone morphology, Agene... |
ORPHA:2508 |
Chromosome 16Q22 Deletion Syndrome |
|
Frontal bossing, Epicanthus, Broad hallux, Small for gestational age, Posteriorly rotated ears, M... |
OMIM:614541 |
Frontoocular Syndrome |
|
Epicanthus, Posteriorly rotated ears, Trigonocephaly, Micrognathia, Blepharophimosis, Upslanted p... |
OMIM:605321 |
Pontocerebellar Hypoplasia, Type 14 |
|
Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypopla... |
OMIM:619301 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Frontal bossing, Inguinal hernia, Tapered finger, Wide nasal bridge, Flatte... |
OMIM:607131 |
Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Simplified gyral pattern, Hypoplasia of the brainstem, C... |
OMIM:619302 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... |
OMIM:200600 |
20Q11.2 Microduplication Syndrome |
|
Brachycephaly, Short palm, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Wid... |
ORPHA:363659 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Micrognathia, Hypopla... |
OMIM:612289 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Frontal bossing, Ventricular septal defect, Short stature, Plagiocephaly, Lateral ventricle dilat... |
OMIM:618330 |
Li-Campeau Syndrome |
|
Telecanthus, Ventricular septal defect, Short stature, Single transverse palmar crease, Patellar ... |
OMIM:619189 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Joint laxity, Short stature, Abnormal cortical gyration, Postaxial polydactyly, Tapered finger, P... |
OMIM:300968 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Cerebellar vermis hypoplasia, Skin rash, Abnormal auditory evoked potentials, ... |
OMIM:617523 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Posteriorly rotated ears, Microcephaly, Tapered finger,... |
OMIM:609425 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:619121 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Short stature, Macrocephaly, Dolichocephaly, Abnormal repetitive mannerisms |
OMIM:300271 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Congenital diaphragma... |
OMIM:122470 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Truncus arteriosus, Ventricular septal defect, Optic nerve hypopl... |
OMIM:615583 |
Developmental And Epileptic Encephalopathy 95 |
|
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Cardiomega... |
OMIM:618143 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Single transverse palmar crease, Micrognathia, Periventricular cysts, Atri... |
OMIM:194190 |
Schizencephaly |
|
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Ventricular septal defect, Short stature, Hand polydactyly, Pulmonic stenosis, Atria... |
OMIM:249670 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Micrognathia, Brachycephaly, Femoral bowing, Abnormal shoulder morp... |
OMIM:274000 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Epicanthus, Short stature, Microcephaly, Wide anterior fontanel, Sc... |
OMIM:614886 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Short stature, Hearing impairment, Micrognathia, Capitate-hamate fusion, Short ... |
OMIM:614078 |
Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Ptosis, Hypoplasia of the maxilla, Optic atrophy, Brachycephaly, M... |
ORPHA:207 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Radial deviation of the hand, Short stature, Rocker bottom fo... |
OMIM:301041 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Cerebellar atrophy, Hypoplasia of the ulna, Osteopenia, Large for gestational age, Osteoporosis, ... |
OMIM:615398 |
Digital Arthropathy-Brachydactyly, Familial |
|
Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... |
OMIM:606835 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... |
OMIM:122860 |
Jacobsen Syndrome |
|
Eyelid coloboma, Pachygyria, Agenesis of corpus callosum, Long hallux, Low-set, posteriorly rotat... |
ORPHA:2308 |
Al-Raqad Syndrome |
|
Joint laxity, Sandal gap, Microcephaly, Low-set ears, Atrial septal defect, Short nose, Brachydac... |
OMIM:616459 |
Multiple Synostoses Syndrome |
|
Bilateral single transverse palmar creases, Joint stiffness, Symphalangism affecting the phalange... |
ORPHA:3237 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... |
ORPHA:93314 |
Ritscher-Schinzel Syndrome 2 |
|
Relative macrocephaly, Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodac... |
OMIM:300963 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... |
ORPHA:93324 |
Cornelia De Lange Syndrome |
|
Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Micromelia, Synophrys... |
ORPHA:199 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Single transverse palmar crease, Micrognathia, Partial agenesis of t... |
OMIM:305450 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Epicanthus, Short stature, Highly arched eyebrow, Persistence of primary teeth, Mi... |
OMIM:618342 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve, Micrognathia, Prominent fingertip pads, Broad hallux, Short stature, Wide ... |
OMIM:618529 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect |
OMIM:620183 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Brachycephaly, Metatar... |
OMIM:259600 |
Alazami Syndrome |
|
Short palpebral fissure, Abnormal eating behavior, Postnatal growth retardation, Sparse eyebrow, ... |
ORPHA:319671 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Synophrys, Chiari type I malformation, Atrial septal defect, Patent foram... |
OMIM:618316 |
Laurence-Moon Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Epicanthus, Short stature, Bilateral single... |
ORPHA:2377 |
Metaphyseal Acroscyphodysplasia |
|
Frontal bossing, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Sever... |
ORPHA:1240 |
Summitt Syndrome |
|
Finger syndactyly, Epicanthus, Camptodactyly of finger, Craniosynostosis, Obesity, Genu valgum, M... |
ORPHA:3210 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Micrognathia, Cutaneous finger syndactyly, Clinodactyly of the 5th finger, Short stature, Sparse ... |
OMIM:613026 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Frontal bossing, Failure to thrive in ... |
ORPHA:1225 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Epicanthus, Short stature, Hearing impairment, Carious teeth, ... |
ORPHA:2701 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Pectus... |
OMIM:223800 |
Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Atrial septal defect, Agenesis of corpus callosum,... |
ORPHA:2745 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness... |
OMIM:253300 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Microcephaly, Cortical dysplasia, Attention deficit hyperactivity disorder, Macrocephaly, Abnorma... |
OMIM:618709 |
Halperin-Birk Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Hip dislocat... |
OMIM:618651 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Cerebellar vermis hypoplasia, Ventricular septal defect, Dextrocardia, Syno... |
OMIM:618067 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Epicanthus, Telecanthus, Short stature, Abnormal pinna morphology, Proportionate short stature, M... |
OMIM:612337 |
N-Acetylaspartate Deficiency |
|
Inguinal hernia, Short stature, Microcephaly, Secondary microcephaly, Decreased body weight, Abno... |
OMIM:614063 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Equinus calcaneus, Self-biting, Choreoathetosis, Atrial septal defect, Abnormal repetitive manner... |
ORPHA:522077 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... |
OMIM:602196 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Radioulnar ... |
ORPHA:2741 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal distal phalanx morphology of finger, Short stature, A... |
ORPHA:1387 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Short stature, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callos... |
OMIM:614833 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Frontal bossing, Brachycephaly, Plagiocephaly, Macroglossia, Upslanted palpebral fissure, Transpo... |
OMIM:616789 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cerebral white matter atrophy, Flexion contracture, Brachycephaly, Short stature, Overweight, Agg... |
ORPHA:500055 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Ventricular septal defect, Sparse eyelashes, Microcephaly, Partial agenesis of the co... |
OMIM:234050 |
Desbuquois Syndrome |
|
Low-set, posteriorly rotated ears, Severe short stature, Ventricular septal defect, Camptodactyly... |
ORPHA:1425 |
Cerebrocostomandibular Syndrome |
|
11 pairs of ribs, 10 pairs of ribs, Short humerus, Congenital hip dislocation, Calcaneal epiphyse... |
OMIM:117650 |
Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Telecanthus, Short stature, Congenital diaphragmat... |
ORPHA:1915 |
Trichothiodystrophy |
|
Osteopenia, Congenital exfoliative erythroderma, Multiple joint contractures, Partial agenesis of... |
ORPHA:33364 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Epicanthus, Microcephaly, Osteoporosis, Intrauterine growth retardation, H... |
OMIM:234250 |
Achondrogenesis Type 1B |
|
Micromelia, Micrognathia, Abnormal enchondral ossification, Short thorax, Abnormal rib morphology... |
ORPHA:93298 |
Placental Insufficiency |
|
Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology, Small placenta, In... |
ORPHA:439167 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Choreoathetosis, Encephalomalacia, Focal T2... |
ORPHA:506 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p... |
OMIM:609813 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Joint laxity, Decreased muscle mass, Facial hypotonia, Cerebral white matter hypoplasia, Megalenc... |
ORPHA:500533 |
Okur-Chung Neurodevelopmental Syndrome |
|
Single transverse palmar crease, Micrognathia, Synophrys, Simplified gyral pattern, Clinodactyly ... |
OMIM:617062 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Micrognathia, Unilateral radial aplasia, Tremor, Synophrys, Aplasia of the 1st metacarpal, Erupti... |
ORPHA:476126 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Hypoplasia of the ulna, Radial deviati... |
OMIM:218600 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Atrial septal defect, Frontal bossing, Ventricular septal defect, Microgn... |
ORPHA:52 |
Temtamy Syndrome |
|
Telecanthus, Micrognathia, Dolichocephaly, Short toe, Genu varum, Aplasia/Hypoplasia of the corpu... |
ORPHA:1777 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Epicanthus, Cerebellar vermis hypoplasia, Ventricular septal defect, Short stature, ... |
OMIM:616901 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han... |
OMIM:164900 |
Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Short stature, Posteriorly rotated ears, Pariet... |
OMIM:617450 |
Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect |
OMIM:617397 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Protruding ear, Chiari type... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Protruding ear, Chiari type... |
ORPHA:363958 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Brachycephaly, Tibial bowing, Short palm, Abnormal bone... |
ORPHA:175 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Microcephaly, Head-banging, Delayed eruption of permanent teeth, Short distal phala... |
OMIM:619356 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Epicanthus, Ventricular septal defect, Hypoplastic left heart, Cerebellar hypoplasia, Dysphagia, ... |
OMIM:616276 |
Mmep Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Microcephaly, Split foot, Triphalangeal thumb |
ORPHA:3434 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Fg Syndrome Type 1 |
|
Single transverse palmar crease, Micrognathia, Generalized joint laxity, Compulsive behaviors, At... |
ORPHA:93932 |
Desmosterolosis |
|
Relative macrocephaly, Frontal bossing, Epicanthus, Rhizomelia, Posteriorly rotated ears, Microgn... |
OMIM:602398 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Frontal bossing, Rhizomelia, Abnormal dental enamel morphology,... |
ORPHA:1515 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Craniosynostosis, Micrognathia, Micromelia, Elbow ... |
ORPHA:93329 |
Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micrognathia, Atrial septal defect... |
OMIM:311900 |
22Q11.2 Duplication Syndrome |
|
Ptosis, Epicanthus, Ventricular septal defect, Micrognathia, Microcephaly, Anterior creases of ea... |
ORPHA:1727 |
Craniotelencephalic Dysplasia |
|
Low-set, posteriorly rotated ears, Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Micr... |
ORPHA:1528 |
1Q44 Microdeletion Syndrome |
|
Frontal bossing, Epicanthus, Telecanthus, Short stature, Microcephaly, Micrognathia, Synophrys, G... |
ORPHA:238769 |
Fetal Minoxidil Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Micrognathia, Clinodactyly of the 5... |
ORPHA:1918 |
Catel-Manzke Syndrome |
|
Joint laxity, Short humerus, Short metacarpal, Short femur, Single transverse palmar crease, Micr... |
OMIM:616145 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Brachycephaly, Chiari type I malformation, Short stature, Tapered finger, ... |
OMIM:601088 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Narrow chest,... |
OMIM:619479 |
Larsen-Like Syndrome |
|
Joint laxity, Frontal bossing, Short stature, Wide anterior fontanel, Conductive hearing impairme... |
OMIM:608545 |
Lissencephaly 6 With Microcephaly |
|
Cerebellar atrophy, Single transverse palmar crease, Tapered finger, Microcephaly, Almond-shaped ... |
OMIM:616212 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Facial palsy, Microcephaly, Flexion contracture, Cardiomyopathy, Hy... |
OMIM:613155 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Ptosis, Epicanthus, Ventricular septal defect, Hearing impairment, Microcep... |
OMIM:220500 |
Diamond-Blackfan Anemia 7 |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:612562 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Frontal bossing, Bowing of the long bones, Congenital hip dislocation, Decreased musc... |
OMIM:612940 |
Thanatophoric Dysplasia Type 1 |
|
Frontal bossing, Bowing of the long bones, Short femur, Cloverleaf skull, Hearing impairment, Joi... |
ORPHA:1860 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Camptodactyly of finger, Facial palsy, Superior rectus atrophy, Levator palpebrae superioris atro... |
OMIM:600638 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac... |
OMIM:600373 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Micrognathia, Abnormal rib morphology, Narrow chest, Failure to thrive, ... |
ORPHA:1703 |
Pseudodiastrophic Dysplasia |
|
Frontal bossing, Severe short stature, Rhizomelia, Phalangeal dislocation, Micrognathia, Elbow di... |
OMIM:264180 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Abnormal eyelid morphology, Abnormal globus pallidus morphology, Abnormal tibia morph... |
ORPHA:909 |
Chromosome 17P13.1 Deletion Syndrome |
|
Diffuse cerebral atrophy, Proximal placement of thumb, Synophrys, Brachycephaly, Knee flexion con... |
OMIM:613776 |
Monosomy 18P |
|
Ptosis, Epicanthus, Generalized dystonia, Short stature, Microcephaly, Carious teeth, Micrognathi... |
ORPHA:1598 |
Brachydactyly, Type A4 |
|
Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Type A brachydact... |
OMIM:112800 |
Anauxetic Dysplasia 2 |
|
Relative macrocephaly, Metaphyseal dysplasia, Hypoplasia of the femoral head, Short stature, Coxa... |
OMIM:617396 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Cerebellar vermis hypoplasia, Flat occiput, Single transverse palmar ... |
OMIM:216340 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Frontal bossing, Ventricular septal defect, Postaxial polydactyly, Megal... |
OMIM:603387 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Natal tooth, Frontal bossing, Ventricular septal defect, Short stature, Sagittal cra... |
OMIM:145420 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Reduced cerebral white matter volume, Dysplastic corpus callosum, Synophrys, Leukoencephalopathy,... |
OMIM:620317 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... |
ORPHA:93307 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Tremor, Brachycephaly, Clinodactyly of the 5th finger, Chronic otitis medi... |
ORPHA:96263 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Thoracic hypoplasia, Micromelia, Dumbbell-shaped long bone, Hypoplasti... |
OMIM:151210 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Skeletal muscle atrophy, Micrognathia, Epicanthus inversus, Flexion contracture, Brachycephaly, P... |
OMIM:309590 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Reduced cerebral white matter volume, Large for gestational age, Uplifted earlobe, Brachycephaly,... |
OMIM:280000 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Micrognathia, Tremor, Preaxial polydactyly, Finger clinodactyly, Bi... |
ORPHA:2754 |
Phelan-Mcdermid Syndrome |
|
Micrognathia, Protruding ear, Clinodactyly of the 5th finger, Abnormal periventricular white matt... |
OMIM:606232 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Micrognathia, Hypoplasia of the maxilla, Long nose, Brachycephaly, Hypoplasia of the primary teet... |
OMIM:257850 |
Osteopathia Striata With Cranial Sclerosis |
|
Micrognathia, Partial agenesis of the corpus callosum, Osteopathia striata, Craniofacial osteoscl... |
OMIM:300373 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb shortening, Hypop... |
OMIM:611717 |
Autosomal Recessive Robinow Syndrome |
|
Micrognathia, Abnormal tricuspid valve morphology, Atrial septal defect, Chronic otitis media, Cl... |
ORPHA:1507 |
Microcephaly, Amish Type |
|
Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corpus callosum, Flexion cont... |
OMIM:607196 |
Megalencephaly |
|
Frontal bossing, Dolichocephaly, Wide nasal bridge, Genu valgum, Prominent occiput, Truncal obesi... |
ORPHA:2477 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Atrial septal defect, V... |
OMIM:139210 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Relative macrocephaly, Low-set, posteriorly rotated ears, Micrognathia, Postnatal growth retardat... |
ORPHA:254525 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Micrognathia, Porencephalic cyst, Tibial bowing, Conductive hearing... |
OMIM:277170 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Short stature, Microcephaly, Brachycephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, ... |
OMIM:615031 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Arachnodactyly, Rocker bottom foot, Abnormal pinna morphology, Wide anterior fon... |
OMIM:207410 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis, Hypoplasia of the radius,... |
ORPHA:3404 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Cerebral calcification, Micrognathia, Aplasia/Hypoplasia of the cerebellum... |
ORPHA:2710 |
Opitz Gbbb Syndrome |
|
Frontal bossing, Inguinal hernia, Cerebellar vermis hypoplasia, Ventricular septal defect, Poster... |
OMIM:300000 |
Monosomy 13Q34 |
|
Epicanthus, Posteriorly rotated ears, Micrognathia, Microcephaly, Postaxial hand polydactyly, Obe... |
ORPHA:96168 |
Diastrophic Dysplasia |
|
Hip contracture, Small for gestational age, Costal cartilage calcification, Flattened epiphysis, ... |
OMIM:222600 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Atrial septal defect, Hyperactivity, Epicanthus, Single transverse palmar crease, Reduced cerebra... |
OMIM:620075 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Micrognathia, Microcep... |
ORPHA:1166 |
Heart And Brain Malformation Syndrome |
|
Attached earlobe, Cerebellar vermis hypoplasia, Ventricular septal defect, Camptodactyly of finge... |
OMIM:616920 |
Macrocephaly-Developmental Delay Syndrome |
|
Microretrognathia, Mandibular prognathia, Frontal bossing, Palpebral edema, Craniosynostosis, Rec... |
ORPHA:397612 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Tapered finger, Hip dislocation, Obesity, Thin ribs, Delaye... |
OMIM:618395 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi... |
OMIM:101800 |
Tatton-Brown-Rahman Syndrome |
|
Epicanthus, Ventricular septal defect, Optic nerve hypoplasia, Sagittal craniosynostosis, Blephar... |
OMIM:615879 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Agenesis of corpus callosum |
OMIM:166990 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Micrognathia, Synophrys, Congenital contracture, Agenesis of corpus callosum, Dandy... |
ORPHA:97297 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Bowing of the long bones, Micrognathia, Coxa valga, Short thorax, Hip ... |
ORPHA:2484 |
Orofaciodigital Syndrome Xv |
|
Cerebellar vermis hypoplasia, Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of... |
OMIM:617127 |
15Q Overgrowth Syndrome |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Abnor... |
ORPHA:314585 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Posteriorly rotated ea... |
ORPHA:284169 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Flat occiput, Micrognathia, Generalized joint laxity, Tibial bowing, Clinodactyly of ... |
ORPHA:251028 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Recurrent fractures, Micromelia, Micrognathia, Abnormal enchondral ossifi... |
ORPHA:93299 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Cerebellar vermis hypoplasia, Femoral retroversion, Microgn... |
OMIM:616531 |
Fg Syndrome 3 |
|
Relative macrocephaly, Hyperactivity, Broad hallux, Sensorineural hearing impairment, Chiari type... |
OMIM:300406 |
Lissencephaly Due To Tuba1A Mutation |
|
Microretrognathia, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agyria, Optic nerve hy... |
ORPHA:171680 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... |
OMIM:258315 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Secundum atrial septal defect, Flexion contracture, Brachycephaly, Generalized amyo... |
OMIM:264090 |
9P13 Microdeletion Syndrome |
|
Microretrognathia, Epicanthus, Thick eyebrow, Short stature, Highly arched eyebrow, Joint stiffne... |
ORPHA:324313 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hyp... |
OMIM:228520 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Type A brachydactyly, Joint stiffness, Abnormal thumb morphology, Obesity, Abnormal metacarpal mo... |
ORPHA:1078 |
Nemaline Myopathy 9 |
|
Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect, Micrognathia |
OMIM:615731 |
Autism, Susceptibility To, X-Linked 3 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:300425 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Short stature, Single transverse palmar crease, Microcephaly, Muscular ventricular septal defect,... |
OMIM:620062 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Secundum atrial septal defect |
OMIM:619758 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Absent radius, Short humerus, Hand polydactyly, Proximal placement of thumb |
OMIM:314390 |
Jacobsen Syndrome |
|
Flat occiput, Micrognathia, Flexion contracture, Eyelid coloboma, Atrial septal defect, Clinodact... |
OMIM:147791 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Hypoplasia of the pyramidal tract, Flexion contracture, Hypoplasia of th... |
OMIM:253800 |
Noonan Syndrome 8 |
|
Relative macrocephaly, Failure to thrive, Epicanthus, Ventricular septal defect, Eczema, Short st... |
OMIM:615355 |
Trisomy 20P |
|
Micrognathia, Brachycephaly, Protruding ear, Reduced bone mineral density, Hernia, Low-set, poste... |
ORPHA:261318 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Short stature, Micrognathia, Hypoplastic ilia, Microc... |
ORPHA:85201 |
Raine Syndrome |
|
Mandibular prognathia, Cerebral calcification, Micromelia, Micrognathia, Brachycephaly, Protrudin... |
OMIM:259775 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Synophrys, Periodontitis, Hernia, Decreased skull ossification, Partial... |
ORPHA:955 |
Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
Warburg Micro Syndrome 2 |
|
Overlapping toe, Clinodactyly of the 5th toe, Microcephaly, Postnatal growth retardation, Asymmet... |
OMIM:614225 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Aggressive behavior, Dysplastic corpus callosum, Growth delay, Primary microcephaly, Clinodactyly... |
OMIM:618010 |
Developmental And Epileptic Encephalopathy 58 |
|
Abnormal repetitive mannerisms, Optic atrophy, Secondary microcephaly, Hypsarrhythmia |
OMIM:617830 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ... |
OMIM:614262 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Enlargement of the costochondral junc... |
OMIM:241530 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Frontal bossing, Cerebral calcification, Arachnodactyly,... |
ORPHA:377 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Absent eyebrow, Epicanthus, Flat occiput, Arachnodactyly, Telecanthus, Microcephaly, Micrognathia... |
ORPHA:2707 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... |
OMIM:617604 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hypoplasia of the odontoid proce... |
OMIM:184250 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, Ectropion of lower eyelids, Preaxial polydactyly, Brachycephaly,... |
OMIM:614976 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Osteoarthritis, Coxa vara, Abnormal hip joint morphology, Arthralgia of the hip, Abnormal acetabu... |
ORPHA:166011 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t... |
ORPHA:2496 |
Maternal Phenylketonuria |
|
Hyperactivity, Epicanthus, Ventricular septal defect, Micrognathia, Bifid distal phalanx of the t... |
ORPHA:2209 |
Temtamy Syndrome |
|
Frontal bossing, Highly arched eyebrow, Micrognathia, Self-mutilation, Hip dislocation, Thick cor... |
OMIM:218340 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Atrial septal defect, Clinodac... |
OMIM:115150 |
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Skeletal muscle atrophy, Short stature, Microcephaly, Temporal cortical atrophy, Brachycephaly, P... |
OMIM:618862 |
Cerebellar-Facial-Dental Syndrome |
|
Single transverse palmar crease, Micrognathia, Hypoplasia of the pons, Hypoplasia of the brainste... |
ORPHA:444072 |
Noonan Syndrome 7 |
|
Epicanthus, Short stature, Thickened helices, Large for gestational age, Dolichocephaly, Cubitus ... |
OMIM:613706 |
Zaki Syndrome |
|
Dilated fourth ventricle, Toe syndactyly, Cerebellar vermis hypoplasia, Short stature, Congenital... |
OMIM:619648 |
Acrofrontofacionasal Dysostosis |
|
Ptosis, Short stature, Camptodactyly of finger, Micromelia, Brachycephaly, Eyelid coloboma, Cereb... |
ORPHA:1784 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Flat occiput, Single transverse palmar crease, Micrognathia, Ulnar deviation of the hand or of fi... |
OMIM:214100 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, Trem... |
OMIM:612474 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Mandibular prognathia, Joint laxity, Frontal bossing, Epicanthus, Aggressive behavior, 2-3 toe cu... |
OMIM:615828 |
Adnp Syndrome |
|
Single transverse palmar crease, Oral-pharyngeal dysphagia, Abnormal finger morphology, Brachycep... |
ORPHA:404448 |
Autism |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:607373 |
Brachydactyly, Type D |
|
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly |
OMIM:113200 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Low-set, posteriorly r... |
ORPHA:1908 |
Hogue-Janssen Syndrome 2 |
|
Broad hallux, Facial hypotonia, Postaxial polydactyly, Microcephaly, Plagiocephaly, Hip dysplasia... |
OMIM:616362 |
Orofaciodigital Syndrome I |
|
Porencephalic cyst, Agenesis of corpus callosum, Microretrognathia, Syndactyly, Short stature, Su... |
OMIM:311200 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Secundum atrial septal defect, Anteverted ears, Conjunctivitis, Atrial sep... |
OMIM:616268 |
Trisomy 18 |
|
Congenital diaphragmatic hernia, Pointed helix, Hernia, Atrial septal defect, Bilateral single tr... |
ORPHA:3380 |
Shashi-Pena Syndrome |
|
Ptosis, Short metacarpal, Epicanthus, Posteriorly rotated ears, Reduced cerebral white matter vol... |
OMIM:617190 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Frontal bossing, Telecanthus, Posteriorly rotated ears, Dextrocardia, Impulsivity, Synophrys, Sel... |
OMIM:618929 |
Acrocephalopolydactyly |
|
Epicanthus, Oxycephaly, Short long bone, Microtia, Limb undergrowth, Short nose, Brachydactyly |
ORPHA:221054 |
Waardenburg Syndrome, Type 3 |
|
Mandibular prognathia, Scapular winging, Telecanthus, Aganglionic megacolon, Camptodactyly of fin... |
OMIM:148820 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Posteriorly rotated ears, Camptodactyly of finger, Bilateral single transverse palmar creases, Mi... |
ORPHA:2083 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Micrognathia, Patent foramen ovale, Short phalanx of finger, Syndactyly,... |
OMIM:616894 |
Meckel Syndrome 12 |
|
Agenesis of cerebellar vermis, Rocker bottom foot, Micrognathia, Microcephaly, Wide nasal bridge,... |
OMIM:616258 |
Sonoda Syndrome |
|
High axial triradius, Ventricular septal defect, Short stature |
OMIM:270460 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Posteriorly rotated ears, Aganglionic megacolon, Tapered finger, Flexi... |
OMIM:613870 |
Potocki-Shaffer Syndrome |
|
Epicanthus, Micrognathia, Parietal foramina, Brachycephaly, Delayed puberty, Decreased skull ossi... |
ORPHA:52022 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Cerebellar atrophy, Relative macrocephaly, Epicanthus, Hearing impairm... |
OMIM:616354 |
Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Broad hallux, Short stature, Posteriorly rotated ears, Microcephaly, Wide anterior fo... |
OMIM:239710 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Swan neck-like deformities of the fingers, Arachnodactyly, Elbow contracture, Short stature, Micr... |
OMIM:615656 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Epicanthus, Overlapping toe, Carious teeth, Dysplastic corpus callosum, Muscular ventricular sept... |
ORPHA:363444 |
Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Abnormal rib morphology, Rib fusion, Coxa vara, Abnormal fibula morpho... |
ORPHA:1988 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Inguinal hernia, Ventricular septal defect, Short stature, Hearing impairm... |
OMIM:608572 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Cerebellar atrophy, Natal tooth, Ankle flexion contracture, Micrognathia, Microcephaly, Cerebral ... |
OMIM:617802 |
Arthrogryposis, Distal, Type 2B2 |
|
Broad hallux, Sandal gap, Ulnar deviation of the wrist, Tapered finger, Metatarsus adductus, Shor... |
OMIM:618435 |
Thanatophoric Dysplasia Type 2 |
|
Frontal bossing, Cloverleaf skull, Short stature, Hearing impairment, Micromelia, Limitation of j... |
ORPHA:93274 |
Diamond-Blackfan Anemia 21 |
|
Unilateral ptosis, Micrognathia, Secundum atrial septal defect, Synophrys, Protruding ear, Short ... |
OMIM:620072 |
Temple-Baraitser Syndrome |
|
Epicanthus, Broad hallux, Proximal placement of thumb, Adducted thumb, Broad thumb, Pulmonic sten... |
OMIM:611816 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Epicanthus, Head titubation, Tetralogy of Fallot, Dystonia, Failure to thrive, Agenesis of corpus... |
OMIM:250620 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of... |
OMIM:615771 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Small for gestational age, Low-set ears, Neonatal death, Agenesis of corpus callosum, Brachydactyly |
OMIM:610498 |
Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Ventricular septal defect, Short stature, Microcephaly, Abnormal eating behavior, ... |
ORPHA:209905 |
Myopathy With Extrapyramidal Signs |
|
Joint laxity, Ptosis, Hyperactivity, Epicanthus, Ventricular septal defect, Microcephaly, Hypopla... |
OMIM:615673 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Short ribs, Sprengel a... |
OMIM:173800 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Agenesis of corpus callosum |
OMIM:605899 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Tarsa... |
ORPHA:2633 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Small for gestational age, Cardiomegaly, Dysplastic corpus callosum, Perimembranous ventricular s... |
OMIM:620135 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular, rachitic-like metaphyses, Hypoplasia of the odontoid process, Elbow flexion contractur... |
OMIM:184252 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Skin rash, Short stature, Microcephaly, Sensorineural hearing impairme... |
ORPHA:290 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent skin infections, Short stature, Ventricular septal defect, Joint stiffness, Postnatal g... |
OMIM:620210 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o... |
OMIM:616007 |
Urban-Rogers-Meyer Syndrome |
|
Epicanthus, Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures, Microgna... |
ORPHA:3409 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Microretrognathia, Optic disc pallor, Epicanthus, Tremor, Retrobulbar optic neuritis, Dysplastic ... |
OMIM:619737 |
Frontonasal Dysplasia 2 |
|
Telecanthus, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Sparse eyelashes, Crani... |
OMIM:613451 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Anteverted ears, Atrial septal defect, Prominent fingertip pads, Vertebral... |
OMIM:610443 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Broad hallux, Aganglionic megacolon, Microcephaly, Wide nasal bridge, Shortening of all distal ph... |
OMIM:614749 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Dilated cardiomyopathy, Myopathy, Aplasia of the middle phalanx of the hand, Clinodac... |
OMIM:610140 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Subcutaneous lipoma, Limbal dermoid, Cortical dysplasia, Porencephalic... |
OMIM:613001 |
19P13.13 Microdeletion Syndrome |
|
Epicanthus, Sandal gap, Optic nerve hypoplasia, Dolichocephaly, Corpus callosum atrophy, Long fin... |
ORPHA:357001 |
Zellweger Syndrome |
|
Failure to thrive, Flat occiput, Ventricular septal defect, Short stature, Epicanthus, Microcepha... |
ORPHA:912 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Conical incisor, Cutaneous finger syndactyly, Hypoplastic ilia... |
OMIM:235510 |
Coffin-Siris Syndrome 4 |
|
Ptosis, Thick eyebrow, Ventricular septal defect, Mitral atresia, Short stature, Microcephaly, Wi... |
OMIM:614609 |
Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Short palm, Facial hypotonia, Short stature, Highly arched eyebrow, Protruding ear, Short foot, L... |
OMIM:618522 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Microcephaly, Dysp... |
OMIM:620001 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Unilateral ptosis, Congenital diaphragmatic hernia, Clinodactyly, Synophrys, Atrial septal defect... |
OMIM:301044 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Posteriorly rotated ears, Reduced cerebral white matter volume, Joint ... |
OMIM:614961 |
Neurooculocardiogenitourinary Syndrome |
|
Epicanthus, Ventricular septal defect, Cardiomegaly, Abnormal cerebellum morphology, Sensorineura... |
OMIM:618652 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Frontal bossing, Ventricular septal defect, Aplasia/Hy... |
ORPHA:2256 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Secondary microcephaly, Brachycephaly, Aggressive behavior |
OMIM:309530 |
Chromosome 16P13.3 Duplication Syndrome |
|
Proximal placement of thumb, Micrognathia, Tracheobronchomalacia, Epicanthus inversus, Synophrys,... |
OMIM:613458 |
Gabriele-De Vries Syndrome |
|
Micrognathia, Tremor, Oral-pharyngeal dysphagia, Finger joint hypermobility, Agenesis of corpus c... |
ORPHA:506358 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Secundum atrial septal defect |
OMIM:619951 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Microcephaly, Absent thumb, EEG with burst suppression, Hypsarrhythmia, Pulmonic s... |
OMIM:619239 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Schizencephaly, Reduced cerebral white matter volume, Micrognathia, Synophrys, Cerebral atrophy, ... |
OMIM:620156 |
Brachydactyly, Type A1, B |
|
Short stature, Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short mi... |
OMIM:607004 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Cerebellar atrophy, Osteopenia, Joint hypermobility, Craniosynostosis, Micrognathia, Upper limb u... |
ORPHA:369837 |
Autosomal Recessive Primary Microcephaly |
|
Short stature, Microcephaly, Growth delay, Upslanted palpebral fissure, Hypoplasia of the frontal... |
ORPHA:2512 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Arachnodactyly, Short stature, Microcephaly, Micrognathia, Cupped ear, Wide nasal bridge, Atrial ... |
ORPHA:93946 |
Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Epicanthus, Highly arched eyebrow, Microcephaly, Micrognathia, Dolichocephal... |
OMIM:618004 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Frontal bossing, Inguinal hernia, Congenital hip dislocation, Short stature, Macrotia, Hip disloc... |
OMIM:219150 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Long nose, Opisthotonus, Narrow greater sciatic notch, Shor... |
ORPHA:508533 |
Cri-Du-Chat Syndrome |
|
Single transverse palmar crease, Short metatarsal, High axial triradius, Abnormal repetitive mann... |
OMIM:123450 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... |
OMIM:249700 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Cerebellar vermis hypoplasia, Overlapping toe, Facial hypotonia, Reduced cerebral white matter vo... |
OMIM:617807 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bone, Short palm,... |
OMIM:244460 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Microcephaly, Atrial septal defect, Keloids, Periventricular leukomalacia |
ORPHA:357225 |
Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Posteriorly rotated ears, Congenital diaphragmatic hernia... |
ORPHA:2143 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... |
ORPHA:93323 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Single transvers... |
OMIM:227270 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Singl... |
ORPHA:264450 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Epicanthus, Palpebral edema, Microcephaly, Abnormal repetitive mannerisms,... |
ORPHA:261144 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Micrognathia, Limitation of joint mobility, Abnormality of the elbow, Abnorm... |
ORPHA:1486 |
48,Xxyy Syndrome |
|
Flat occiput, Tremor, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Chronic otiti... |
ORPHA:10 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Barrel-shaped chest, Recurrent fractur... |
OMIM:610915 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Tremor, Encephalomalacia, Aspiration pneumonia, Infectious encephalitis, S... |
ORPHA:354 |
Odontochondrodysplasia 1 |
|
Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Short st... |
OMIM:184260 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Frontal bossing, Bowing of the long bones, Joint stiffness, Disproportionate short stature, Joint... |
ORPHA:40 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Bilateral single transverse palmar creases, Microcephaly, Micrognathia... |
ORPHA:2516 |
Xq28 (MECP2) duplication |
|
Failure to thrive, Microcephaly, Brachycephaly, Hypoplasia of the corpus callosum, Dysphagia, Mac... |
DECIPHER:45 |
Chromosome 9P Deletion Syndrome |
|
Micrognathia, Atrial septal defect, Long toe, Highly arched eyebrow, Tapered finger, Wide nasal b... |
OMIM:158170 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal eyelid morphology, Clinodactyly of the 5th fing... |
ORPHA:193 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Epicanthus, Tapered finger, Short 3rd toe, Short thumb, Muscular ventricular septal defect, Split... |
OMIM:618569 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Epicanthus, Posteriorly rotated ears, Hemidystonia, Microcephaly, Tapered finger, Tr... |
OMIM:619680 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serration, Rhizome... |
ORPHA:239 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Mandibular prognathia, Frontal bossing, Broad hallux, Short stature, Short thumb, Premature osteo... |
OMIM:165800 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... |
OMIM:616648 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Frontal bossing, Telecanthus, Agenesis of cerebellar vermis, Brachycephaly, Upslanted palpebral f... |
ORPHA:228390 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cer... |
ORPHA:86822 |
Orofaciodigital Syndrome V |
|
Unilateral ptosis, Overfriendliness, Frontal bossing, Sandal gap, Ventricular septal defect, Post... |
OMIM:174300 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Joint laxity, Pachygyria, Abnormal repetitive mannerisms |
OMIM:606053 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Limb dystonia, Broad eyebrow, Highly arched eyebrow, Microcephaly, Long nose, Sensorineural heari... |
ORPHA:457351 |
Pseudotrisomy 13 Syndrome |
|
Omphalocele, Ventricular septal defect, Dextrocardia, Posteriorly rotated ears, Microcephaly, Com... |
OMIM:264480 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Bicuspid aortic valve, Shallow orbits, Atrial septal defect, Atrioventricular canal d... |
ORPHA:453499 |
Prader-Willi Syndrome Due To Translocation |
|
Flat occiput, Micrognathia, Compulsive behaviors, Clinodactyly of the 5th finger, Patent foramen ... |
ORPHA:177907 |
Ruvalcaba Syndrome |
|
Ptosis, Short metacarpal, Brachydactyly, Inguinal hernia, Proximal placement of thumb, Microcepha... |
ORPHA:3121 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Single transverse palmar crease, Micrognathia, Prelingual sensorineural hearing impairment, Conge... |
ORPHA:73272 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Agenesis of corpus callosum |
ORPHA:85334 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Proportionate short stature, Abnormal repetitive mannerisms, Uveitis, ... |
OMIM:617044 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Mandibular prognathia, Frontal bossing, Dolichocephaly, Recurrent pneumonia, Scaphocephaly, Self-... |
OMIM:615637 |
Alg12-Cdg |
|
Proximal placement of thumb, Micrognathia, Posterior plagiocephaly, Abnormal bone ossification, C... |
ORPHA:79324 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Mandibular prognathia, Postnatal growth retardation, Brachycephaly |
OMIM:309545 |
Sifrim-Hitz-Weiss Syndrome |
|
Ptosis, Epicanthus, Ventricular septal defect, Short stature, Trigonocephaly, Tapered finger, Cup... |
OMIM:617159 |
Cockayne Syndrome B |
|
Mandibular prognathia, Tremor, Basal ganglia calcification, Ivory epiphyses of the phalanges of t... |
OMIM:133540 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Epicanthus, Short stature, Posteriorly rotated ears, Single transverse palmar crease, Microcephal... |
OMIM:615502 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing... |
OMIM:620076 |
Schuurs-Hoeijmakers Syndrome |
|
Bicuspid aortic valve, Highly arched eyebrow, Aggressive behavior, Synophrys, Large hands, Abnorm... |
OMIM:615009 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Epicanthus, Microcephaly, Partial agenesis of the corpus callosum, Optic atrophy, Dystonia, Trigo... |
OMIM:245349 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Epicanthus, Abnormal pinna morphology, Micrognathia, Split hand, Dysph... |
OMIM:157900 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Short stature, Pneumonia, Microcephaly, Short foot, Periodontitis, Compulsive behaviors, Cellulit... |
OMIM:266265 |
Birk-Landau-Perez Syndrome |
|
Ptosis, Failure to thrive in infancy, Facial hypotonia, Microcephaly, Optic atrophy, Growth delay... |
OMIM:617595 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Atrial septal defect, Frontal bossing, Arachnodactyly, Sandal gap,... |
OMIM:617602 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Cerebral calcification, Short stature, Abnormal dental enamel morpholog... |
ORPHA:1798 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Cerebral atrophy, Secondary microcephaly, Joint contracture, Failure to thrive, Abnormal repetiti... |
OMIM:617393 |
Maternal Uniparental Disomy Of Chromosome X |
|
Short stature, Camptodactyly of finger, Rocker bottom foot, Microcephaly, Flexion contracture, Cu... |
ORPHA:261519 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Micrognathia, Atrial septal defect, Parietal bossing, Patent foramen ovale... |
OMIM:619343 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Abnormal rib m... |
ORPHA:2021 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Hyperactivity, Short metatarsal, Advanced ossification o... |
OMIM:614613 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Short stature, Ventricular septal defect, Bilatera... |
ORPHA:1770 |
Monosomy 18Q |
|
Absence of the pulmonary valve, Secundum atrial septal defect, Pulmonary valve defects, Aortic va... |
ORPHA:1600 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Frontal bossing, Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Syn... |
ORPHA:1278 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Obesity, Brachydactyly |
OMIM:615983 |
Gabriele-De Vries Syndrome |
|
Micrognathia, Tremor, Cortical dysplasia, Finger joint hypermobility, Patent foramen ovale, Simpl... |
OMIM:617557 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Protruding e... |
OMIM:300534 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Turricephaly, Severe short stature, Abnorma... |
ORPHA:1005 |
Pycnodysostosis |
|
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hy... |
ORPHA:763 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, E... |
ORPHA:2249 |
Cleidocranial Dysplasia, Recessive Form |
|
Severe short stature, Brachycephaly |
OMIM:216330 |
King-Denborough Syndrome |
|
Ventricular septal defect, Short stature, Centrally nucleated skeletal muscle fibers, Bilateral p... |
OMIM:619542 |
Baker-Gordon Syndrome |
|
Joint laxity, Epicanthus, Choreoathetosis, EEG abnormality, Self-injurious behavior, Dystonia, Sh... |
OMIM:618218 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Thenar muscle atrophy, Degeneration of the l... |
OMIM:604360 |
Noonan Syndrome 5 |
|
Mandibular prognathia, Epicanthus, Short stature, Thickened helices, Large for gestational age, D... |
OMIM:611553 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Telecanthus, Ventricular septal defect, Megalencephaly, Postaxial hand polydactyly, Abnormal card... |
ORPHA:83473 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... |
ORPHA:363417 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Bicuspid aortic valve, Protruding ear, Shallow orbits, Conductive hearing impairment,... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Bicuspid aortic valve, Protruding ear, Shallow orbits, Conductive hearing impairment,... |
ORPHA:352665 |
20Q13.33 Microdeletion Syndrome |
|
Hallux valgus, Low-set, posteriorly rotated ears, Epicanthus, Small for gestational age, Failure ... |
ORPHA:261311 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Congenital diaphragmatic hernia, Partial agenesis of the corpus ... |
OMIM:135900 |
Peters-Plus Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Hypoplasia of the max... |
OMIM:261540 |
Alkuraya-Kucinskas Syndrome |
|
Micrognathia, Clinodactyly, Hypoplasia of the brainstem, Dandy-Walker malformation, Cerebellar dy... |
OMIM:617822 |
Smith-Lemli-Opitz Syndrome |
|
Diffuse cerebral atrophy, Proximal placement of thumb, Micrognathia, Micromelia, 2-3 toe cutaneou... |
OMIM:270400 |
Joubert Syndrome 3 |
|
Frontal polymicrogyria, Epicanthus, Cerebellar vermis hypoplasia, Highly arched eyebrow, Wide nas... |
OMIM:608629 |
Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Frontal bossing, Iliac crest serration, Small for gestational age, Short stature, Cardiomegaly, W... |
OMIM:613320 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Short stature, Abnormal pinna morphology, Sensorineural hearing impair... |
ORPHA:52055 |
Meier-Gorlin Syndrome 7 |
|
Bowing of the legs, Chiari type I malformation, Copper beaten skull, Atrial septal defect, Disloc... |
OMIM:617063 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect, Micrognathia |
OMIM:608227 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Ventricular septal defect, Small for gestational age, Hearing impairment, M... |
OMIM:208085 |
Hypomandibular Faciocranial Dysostosis |
|
Craniosynostosis, Trigonocephaly, Optic disc coloboma, Brachycephaly, Upslanted palpebral fissure... |
ORPHA:1790 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Optic disc pallor, Short stature, Abnormal auditory evoked potentials, Sensor... |
OMIM:619260 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Mixed hearing impairment, Ventricular septal defect, Short stature, Lop ear, Sensorineural hearin... |
OMIM:300472 |
Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Skeletal muscle atrophy, Hyperactivity, Microcephaly, Aggressive behavior, Br... |
OMIM:103050 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Cerebellar atrophy, Joint laxity, Short stature, Coxa valga, Elbow dislocation, Advanced ossifica... |
OMIM:620269 |
Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms, Progressive microcephaly, Microcephaly |
OMIM:620033 |
Achondroplasia |
|
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Relative macrocephaly, Syndactyly, Omphalocele, Ventricular septal defect, Postaxial polydactyly,... |
OMIM:617895 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Long nose, Brachycephaly, Partial duplication of the distal phalanx of... |
OMIM:101400 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Epicanthus, Cerebellar vermis hypoplasia, Ventricular septal defect, Short stature, Microcephaly,... |
OMIM:618325 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tremor, Synophrys, Large fleshy ears, Atrial septal defect, Prominent superior crus of antihelix,... |
ORPHA:280633 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Microcephaly, Aggressive behavior, Bruxism, EEG abnormality, Inappropriate laughter, Dystonia, Ab... |
OMIM:619150 |
Mismatch Repair Cancer Syndrome 4 |
|
Agenesis of corpus callosum |
OMIM:619101 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Short stature, Rhizomelia, Micrognathia, Delayed epiphyseal ... |
ORPHA:166016 |
1P36 Deletion Syndrome |
|
Brachycephaly, Conductive hearing impairment, Clinodactyly of the 5th finger, Agenesis of corpus ... |
ORPHA:1606 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Intrauterine growth retardation, Abnormal rib morphology, Abnormal epiphysis morphology, Brachyda... |
ORPHA:2643 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Micrognathia, Chiari type I malformation, Otitis media, Compulsive behavio... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Micrognathia, Chiari type I malformation, Otitis media, Compulsive behavio... |
ORPHA:353277 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Ventricular septal defect |
OMIM:614876 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Ventricular septal defect, Short stature, Proportionate short stature, Joint st... |
OMIM:277600 |
Joubert Syndrome With Ocular Defect |
|
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Aganglionic megacolon, Dextrocar... |
ORPHA:220493 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b... |
OMIM:224300 |
Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Microcephaly, Micrognathia, Postaxial hand polydactyly, Wide nas... |
ORPHA:2075 |
Vici Syndrome |
|
Short stature, Joint stiffness, Hypoplasia of the pons, Sensorineural hearing impairment, Optic a... |
ORPHA:1493 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Pericallosal lipoma, Ptosis, Epicanthus, Sparse eyelashes, Cam... |
ORPHA:306542 |
Hallermann-Streiff Syndrome |
|
Micrognathia, Metaphyseal widening, Brachycephaly, Choreoathetosis, Parietal bossing, Hyperactivi... |
OMIM:234100 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Ptosis, Epicanthus, Down-sloping shoulders, Carious teeth, Syn... |
ORPHA:1390 |
Menkes Disease |
|
Joint laxity, Short stature, Metaphyseal spurs, Microcephaly, Metaphyseal widening, Osteoporosis,... |
OMIM:309400 |
Erythrokeratodermia Variabilis |
|
Skin rash, Short stature, Hearing impairment, Microcephaly, Tapered finger, Patchy palmoplantar h... |
ORPHA:317 |
Weill-Marchesani Syndrome |
|
Ventricular septal defect, Short stature, Short thumb, Limitation of joint mobility, Pulmonic ste... |
ORPHA:3449 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Increased inflammatory response, Severe short stature, Protrusio acetabuli, Abnormal ... |
ORPHA:2619 |
Bainbridge-Ropers Syndrome |
|
Micrognathia, Synophrys, Contracture of the proximal interphalangeal joint of the 4th finger, Abn... |
OMIM:615485 |
Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Broad skull, Short metatarsal, Brachycephaly, Shallow orbits, Thickene... |
OMIM:608328 |
Helsmoortel-Van Der Aa Syndrome |
|
Ectropion of lower eyelids, Posterior plagiocephaly, Eyelid coloboma, Short 4th toe, Compulsive b... |
OMIM:615873 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Short stature, Flat capit... |
OMIM:226900 |
Mgat2-Cdg |
|
Low-set, posteriorly rotated ears, Osteopenia, Ventricular septal defect, Posteriorly rotated ear... |
ORPHA:79329 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hallux valgus, Hyperactivity, Short stature, Microcephaly, Anteverted ears, Aggressive behavior, ... |
OMIM:615541 |
Craniofrontonasal Syndrome |
|
Congenital diaphragmatic hernia, Brachycephaly, Clinodactyly of the 5th finger, Agenesis of corpu... |
OMIM:304110 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Thin ribs, Slender long bone, Decreased calvarial ossification, D... |
OMIM:618265 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Optic atrophy, Increased variability in muscle fiber diamete... |
OMIM:125250 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hallux valgus, Hyperactivity, Small for gestational age, Failure to thrive in infancy, Short stat... |
OMIM:614104 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Eczema, Carious teeth, Bronchiectasis, Microtia, Attention deficit hyp... |
OMIM:620184 |
Cranioacrofacial Syndrome |
|
Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ... |
OMIM:618019 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneou... |
OMIM:236500 |
Pelger-Huet Anomaly |
|
Frontal bossing, Foot dorsiflexor weakness, Ventricular septal defect, Eczema, Upper limb undergr... |
OMIM:169400 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Cerebral ca... |
ORPHA:1782 |
Cranioectodermal Dysplasia 2 |
|
Unilateral ptosis, Cholangitis, Micrognathia, Atrial septal defect, Patent foramen ovale, Simple ... |
OMIM:613610 |
Xeroderma Pigmentosum, Complementation Group F |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Flexion contracture, Defective DNA rep... |
OMIM:278760 |
Galloway-Mowat Syndrome 6 |
|
Cerebellar atrophy, Epicanthus, Short stature, Microcephaly, Growth delay, Decreased body weight,... |
OMIM:618347 |
Trisomy 13 |
|
Ventricular septal defect, Abnormal eyelash morphology, Postaxial hand polydactyly, Sensorineural... |
ORPHA:3378 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Chiari type I malformation, Plagiocephaly, Agenesis of corpus callosum, Macrocephaly |
ORPHA:459074 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Limb joint contracture, Hearing impairment, Tre... |
OMIM:620327 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Inguinal hernia, Overlapping toe, Arachnodactyly, Cerebral white matter hypoplasia, Micrognathia,... |
ORPHA:436003 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Osteopenia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... |
OMIM:166250 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Short metacarpal, Abnormal thorax morphology, Rhizomelic arm shortening, Broad cla... |
ORPHA:508542 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Atrial septal defect, Frontal polymicrogyria, Cerebellar vermis hypoplasia, Ventricular septal de... |
OMIM:620024 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Frontal bossing, Ventricular septal defect, Short statur... |
OMIM:250410 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Enlarg... |
OMIM:264700 |
Degcags Syndrome |
|
Osteopenia, Micrognathia, Oral-pharyngeal dysphagia, Synophrys, Atrial septal defect, Diaphragmat... |
OMIM:619488 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Micrognathia, Secundum atrial septal defect, Short stature, Perimembrano... |
OMIM:608779 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Cerebellar vermis hypoplasia, Abnormality of the distal phalanx of the thumb, Synophrys, Mild mic... |
ORPHA:453521 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Abnormal morphology of the radius, Ventricular septal defect, Microcephaly |
ORPHA:3469 |
Distal Triplication 15Q |
|
Telecanthus, Arachnodactyly, Craniosynostosis, Micrognathia, Large for gestational age, Sensorine... |
ORPHA:314588 |
Wiedemann-Steiner Syndrome |
|
Synophrys, Clinodactyly of the 5th finger, Abnormal repetitive mannerisms, Hyperactivity, Short s... |
ORPHA:319182 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra... |
OMIM:151050 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Interictal EEG abnormality, Optic disc pallor, Cerebral atrophy, Abnormal hea... |
ORPHA:79264 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Left ventricular hypertrophy, Cardiomegaly, Sensorineural he... |
ORPHA:79330 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Frontal bossing, Rhizomelia, Eczema, Allergic rhinitis, Elbow contracture, ... |
OMIM:618162 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Epicanthus, Short stature, Craniosynostosis, Microcephaly, Coxa valga, Brachycephaly, Plagiocepha... |
ORPHA:2163 |
Oculoauriculofrontonasal Syndrome |
|
Pericallosal lipoma, Ventricular septal defect, Microcephaly, Micrognathia, Limbal dermoid, Upper... |
ORPHA:398156 |
Chime Syndrome |
|
Ptosis, Epicanthus, Ventricular septal defect, Aplastic clavicle, Supernumerary tooth, Aplasia/Hy... |
ORPHA:3474 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Frontal bossing, Epicanthus, Telecanthus, Short stature, Posteriorly rotated ears, Microcephaly, ... |
OMIM:617260 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Optic disc pallor, Short stature, Metaphyseal widening, Flexion contract... |
OMIM:300232 |
Van Esch-O'Driscoll Syndrome |
|
Protruding ear, Shallow orbits, Atrial septal defect, Clinodactyly of the 5th finger, Abnormal re... |
OMIM:301030 |
Marinesco-Sjögren Syndrome |
|
Short palm, Skeletal muscle atrophy, Severe short stature, Coxa valga, Avascular necrosis of the ... |
ORPHA:559 |
Ring Chromosome 22 Syndrome |
|
Epicanthus, Absent septum pellucidum, Microcephaly, 2-3 toe syndactyly, Growth delay, Large hands... |
ORPHA:1446 |
Cockayne Syndrome A |
|
Mandibular prognathia, Tremor, Basal ganglia calcification, Ivory epiphyses of the phalanges of t... |
OMIM:216400 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Mandibular prognathia, Micrognathia, Brachycephaly, Increased head circumference, Thickened helic... |
ORPHA:247262 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Mandibular prognathia, Ptosis, Short stature, Microcephaly, Brachycephaly, Eyelid coloboma, Downs... |
OMIM:268850 |
Aredyld Syndrome |
|
Mandibular prognathia, Low-set, posteriorly rotated ears, Craniofacial hyperostosis, Short statur... |
ORPHA:1133 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormality of th... |
ORPHA:429 |
Acromelic Frontonasal Dysostosis |
|
Preaxial polydactyly, Brachycephaly, Patellar hypoplasia, Short tibia, Cavum septum pellucidum, A... |
OMIM:603671 |
Kagami-Ogata Syndrome |
|
Large placenta, Limitation of joint mobility, Premature birth, Polyhydramnios |
ORPHA:254519 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Epicanthus, Cerebral calcification, Metaphyseal widening, Craniofacial osteosclerosis, Optic atro... |
OMIM:618476 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Brachycephaly, Obesity, Postaxial polydactyly |
OMIM:615985 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Micrognathia, Metatarsus valgus, Aplasia/Hypoplasia of toe,... |
ORPHA:3082 |
Ritscher-Schinzel Syndrome 3 |
|
Relative macrocephaly, Hypoplasia of the ulna, Cerebellar vermis hypoplasia, Highly arched eyebro... |
OMIM:619135 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Micrognathia, Calcaneovalgus deformity, Neonatal death, Pterygium, Agenesis of corpus... |
OMIM:256520 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Amelogenesis imperfecta, Microretrognathia, Short stature, O... |
OMIM:618363 |
Seckel Syndrome 9 |
|
Ventricular septal defect, Small for gestational age, Congenital diaphragmatic hernia, Microcepha... |
OMIM:616777 |
Down Syndrome |
|
Single transverse palmar crease, Brachycephaly, Hypoplastic iliac wing, Atrial septal defect, Con... |
OMIM:190685 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Frontal bossing, Inguinal hernia, Epicanthus, Sandal gap, Abnormal dental enamel morphology, Abno... |
ORPHA:1812 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Short stature, Postaxial hand polydactyl... |
OMIM:615630 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Overlapping toe, Microcephaly, Reduced bone mineral density, Macrocephaly, Atrial septal defect |
ORPHA:466926 |
Hunter-Macdonald Syndrome |
|
Bicuspid aortic valve, Brachycephaly, Pseudoepiphyses, Conductive hearing impairment, Clinodactyl... |
OMIM:611962 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Hypoplasia of the maxil... |
OMIM:305400 |
Tatton-Brown-Rahman Syndrome |
|
Mandibular prognathia, Thick eyebrow, Proportionate short stature, Aggressive behavior, Short toe... |
ORPHA:404443 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Caudate atrophy, Generalized dystonia, Tremor, Sensorineural... |
ORPHA:52368 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Tics, Compulsive behaviors, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Ara... |
ORPHA:261330 |
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome |
|
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Palpebral edema, Highly arched e... |
ORPHA:466688 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ... |
OMIM:259420 |
Trichohepatoenteric Syndrome 1 |
|
Polyhydramnios, Large placenta, Abnormalities of placenta or umbilical cord, Decreased circulatin... |
OMIM:222470 |
Rauch-Steindl Syndrome |
|
Attached earlobe, Hyperactivity, Epicanthus, Short stature, Telecanthus, Highly arched eyebrow, M... |
OMIM:619695 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Short stature, Single transverse palmar crease, Tapered finger, Hypopl... |
OMIM:616202 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Calvarial skull defect, Abno... |
ORPHA:1426 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Joint laxity, Small for gestational age, Ventricular septal defect, Microcephaly, Cerebral atroph... |
OMIM:617635 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... |
ORPHA:89936 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Abnormal heart morphology |
OMIM:614954 |
Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Short stature, Micrognathia, Brachycephaly, Long eyelashes, Short nose, Thick ... |
ORPHA:1514 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Inguinal hernia, Short stature, Impulsivity, Microcephaly, Aggressive behavior, Fr... |
OMIM:620141 |
Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Abnormal finger morphology, Atrial septal defect, Phocomelia, Ag... |
ORPHA:2538 |
Chops Syndrome |
|
Ventricular septal defect, Short stature, Hearing impairment, Microcephaly, Tracheomalacia, Synop... |
OMIM:616368 |
Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Co... |
ORPHA:87 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Turricephaly, Arachnodactyly, Camptodactyly o... |
ORPHA:83 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Short stature, Postaxial polydactyly, Single transverse palmar crease, Preaxial polyd... |
OMIM:617927 |
Acromesomelic Dysplasia 1 |
|
Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Limited elbow extensi... |
OMIM:602875 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Ost... |
ORPHA:666 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Diffuse cerebral atrophy, Flat occiput, Microcephaly, Brachycephaly, Plagiocephaly |
ORPHA:2898 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Ventricular septal defect, Highly arched eyebrow, Aplasia/Hypoplasia of th... |
ORPHA:94066 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Abnormal repetitive mannerisms, Tapered finger, Perimembranous ventricular... |
OMIM:301040 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Dystonia, Hypertrophic cardiomyopathy, Thin corpus callosum, Hearing i... |
OMIM:616277 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Brachycephaly, Triphalangeal thumb, Conductive hearing impairment, Cli... |
ORPHA:794 |
Kagami-Ogata Syndrome |
|
Omphalocele, Frontal bossing, Inguinal hernia, Ventricular septal defect, Diastasis recti, Microg... |
OMIM:608149 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Cerebellar vermis hypoplasia, Micrognathia, Proximal femoral metaphyseal irregularity, Early ossi... |
ORPHA:397715 |
Ring Chromosome 12 Syndrome |
|
Secundum atrial septal defect |
ORPHA:1439 |
Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Epicanthus, Short stature, Underfolded helix, Large f... |
ORPHA:2563 |
3M Syndrome |
|
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme... |
ORPHA:2616 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Micrognathia, Conductive hearing impairment, Calvarial osteosclerosis, Short stature, Mesomelia, ... |
OMIM:616331 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
EEG abnormality, Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
Lambert Syndrome |
|
Inguinal hernia, Ventricular septal defect, Failure to thrive in infancy, Aplasia/Hypoplasia of t... |
ORPHA:1296 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later... |
OMIM:269250 |
Cardiofaciocutaneous Syndrome |
|
Biparietal narrowing, Thickened helices, Atrial septal defect, Low-set, posteriorly rotated ears,... |
ORPHA:1340 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Frontal bossing, Posteriorly rotated ears, Microcephaly, Sensorineural hearing impairment, Optic ... |
OMIM:615219 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
Liebenberg Syndrome |
|
Metaphyseal widening, Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contractur... |
OMIM:186550 |
Warsaw Breakage Syndrome |
|
Epicanthus, Ventricular septal defect, Single transverse palmar crease, Microcephaly, Postnatal g... |
OMIM:613398 |
Frontofacionasal Dysplasia |
|
Telecanthus, Short stature, Blepharophimosis, Brachycephaly, Upper eyelid coloboma, Hypoplasia of... |
ORPHA:1791 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular cysts, Hypoplasia of the brainstem, Abnormal calvaria morphology, Cerebellar hypo... |
ORPHA:255138 |
Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Tibial bowing, Short palm, ... |
OMIM:601812 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Disproportion... |
OMIM:618618 |
Zttk Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Protruding ear, Atrial septal defect, Short statu... |
OMIM:617140 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Flat occiput, Single transverse palmar crease, Reduced cerebral white matter volume, Synophrys, K... |
OMIM:618076 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Hypoplastic left atrium... |
OMIM:615524 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Brachycephaly, Thickened helices, Prominent fingertip pads, Self-mutilatio... |
OMIM:619950 |
Chromosome 13Q14 Deletion Syndrome |
|
Frontal bossing, Inguinal hernia, Epicanthus, Overlapping toe, Ventricular septal defect, Absent ... |
OMIM:613884 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... |
ORPHA:2167 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Tremor, Small hand, Bruxism, Cerebral atrophy, Dysphagia, Sh... |
OMIM:617435 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Toe syndactyly, Mitral stenosis, Camptodactyly of finger, Ventr... |
ORPHA:2008 |
Monosomy 9P |
|
Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Synophrys, Brachyceph... |
ORPHA:261112 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Dystonia, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Hypoplasia of the opti... |
ORPHA:500144 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
Anauxetic Dysplasia 3 |
|
Broad eyebrow, Short metacarpal, Severe short stature, Joint hypermobility, Hip subluxation, Wide... |
OMIM:618853 |
Cardiofacioneurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Micrognathia, Microcephaly, Protruding e... |
OMIM:619123 |
Cerebrooculonasal Syndrome |
|
Frontal bossing, Epicanthus, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Optic nerve ... |
OMIM:605627 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Single trans... |
ORPHA:536471 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Single transverse palmar crease, 2-3 toe syndactyly, Upslanted palpebra... |
OMIM:613443 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Protruding ear, Clin... |
ORPHA:235 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Ptosis, Abnormal palmar dermatoglyphics, Microcephaly, Postnatal growth retardation, Blepharophim... |
ORPHA:2728 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Failure to thrive, Ventricular septal defect, Tracheomalacia, Micrognath... |
OMIM:612561 |
Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n... |
OMIM:206920 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, ... |
OMIM:613848 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Metaphyseal widening, Abnormal thorax morphology, Triangular shaped distal phalange... |
ORPHA:73230 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Agenesis of corpus callosum, Tremor |
OMIM:610245 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Joint laxity, Overriding aorta, Bicuspid aortic valve, Sandal gap, Ventricular septal defect, Fai... |
ORPHA:477817 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Brachycephaly, Knee f... |
ORPHA:3103 |
Aortic Valve Disease 3 |
|
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:618496 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Failure to thrive, Toe syndactyly, Congenital hip dislocation, Ventricular sep... |
ORPHA:217346 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin... |
OMIM:619503 |
Phaver Syndrome |
|
Broad hallux phalanx, Epicanthus, Ventricular septal defect, Camptodactyly of finger, Posteriorly... |
ORPHA:2876 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Unilateral ptosis, Single transverse palmar crease, Brachycephaly, Clinoda... |
ORPHA:1449 |
Lambotte Syndrome |
|
Telecanthus, Ventricular septal defect, Microcephaly, Macrotia, Atresia of the external auditory ... |
OMIM:245552 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Epicanthus, Short stature, Abnormal dental enamel morphology, Microcep... |
ORPHA:2107 |
Oculodentodigital Dysplasia |
|
Basal ganglia calcification, Uveitis, Joint contracture of the 5th finger, Atrial septal defect, ... |
OMIM:164200 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Ptosis, Epicanthus, Telecanthus, Short stature, Posteriorly rotated ears, Craniosynostosis, Micro... |
OMIM:618050 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Broad long bones, Short stature, Abnormal metatarsal morphology, Curly eyelashes, Multiple rows o... |
ORPHA:163654 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Biparietal narrowing,... |
ORPHA:818 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Eczema, Microcephaly, Dacryocystitis, Sensorineural hearing impairment, ... |
ORPHA:464288 |
Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Patchy reduction of bone m... |
ORPHA:221120 |
Bardet-Biedl Syndrome 18 |
|
Obesity, Brachydactyly |
OMIM:615995 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:608636 |
Cat-Eye Syndrome |
|
Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology |
ORPHA:195 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Globus pallidus calcification, Epicanthus, Telecanthus, Aggressive behavior, Almon... |
OMIM:620292 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Brachycephaly, Femoral bowing, Conductive hearing impairment, Abnormality of... |
ORPHA:95699 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow chest, Short p... |
OMIM:250220 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Thickened calvaria, Cardiomegaly, Tremor, Increased head circumference, Atrial septal defect, Pat... |
OMIM:300967 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Cerebellar atrophy, Midface retrusion, Ulnar deviation of the 3rd finger, Short stature, Proximal... |
OMIM:616263 |
Pontocerebellar Hypoplasia Type 2 |
|
Paroxysmal dystonia, Cerebellar vermis hypoplasia, Bilateral single transverse palmar creases, Ab... |
ORPHA:2524 |
Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Ankyloblepharon,... |
OMIM:612651 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Short stature, Camptodactyly of finger, Micromelia, Decreased nerve conduction velocity, Ulnar de... |
ORPHA:2928 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Short stature, Recurrent frac... |
OMIM:613849 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Tremor, Reduced bone mineral density, Clinodactyly of the 5th finger, Chronic otiti... |
ORPHA:2750 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Knee flexion contracture, Cutaneous finger syndactyly, Vert... |
OMIM:178110 |
Trichorhinophalangeal Syndrome Type 2 |
|
Low-set, posteriorly rotated ears, Short stature, Bilateral single transverse palmar creases, Mic... |
ORPHA:502 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Congenital hip dislocation, Cerebellar vermis hypoplasia, Brachycephaly, Hypoplasia o... |
ORPHA:480880 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hypoplasia of the musculature, Micrognathia, Microcephaly, Hypoplasia of the brainstem, Cerebella... |
OMIM:225790 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Joint laxity, Ventricular septal defect, Arachnodactyly, Aggressive behavior, Protruding ear, Abd... |
OMIM:301039 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Myelofibrosis, Large for gestational age, Atrial septal defect, Joint laxity, Hyperactivity, Shor... |
OMIM:607721 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Short stature, Microcephaly, Hip dislocation, Retrognathia, Wide nasal bridge, Limb u... |
OMIM:618005 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, ... |
ORPHA:96334 |
8P23.1 Duplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Highly arched eyebrow, Pulmonic stenosis, Tetralogy of... |
ORPHA:251076 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... |
OMIM:619636 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Low-set, posteriorly rotated ears, Scapular winging, Short statu... |
ORPHA:500 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Limb joint contracture, Overlapping toe, Short stature, Microcephaly, Tapered finger, Synophrys, ... |
OMIM:300004 |
Leri Pleonosteosis |
|
Severe short stature, Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormal finge... |
ORPHA:2900 |
Fumarase Deficiency |
|
Relative macrocephaly, Frontal bossing, Necrotizing enterocolitis, Failure to thrive, Reduced sub... |
OMIM:606812 |
Arms, Malformation Of |
|
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius |
OMIM:107900 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Mandibular prognathia, Single transverse palmar crease, Long nose, Self-biting, Clinodactyly of t... |
OMIM:300912 |
Vici Syndrome |
|
Schizencephaly, Cerebellar vermis hypoplasia, Failure to thrive, Epicanthus, Micrognathia, Microc... |
OMIM:242840 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Micrognathia, Brachycephaly, Protruding ear, Atrial septal defect, Clinoda... |
OMIM:309500 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Thickened calvaria, Tremor, Congenital malformation of the left heart, Synophrys, Chi... |
ORPHA:3455 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Diffuse cerebral atrophy, Single transverse palmar crease, Micrognathia, Arachnodactyly, Wide nas... |
ORPHA:83617 |
15Q14 Microdeletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Acne, Short stature, Microcephaly, Biparietal narrowi... |
ORPHA:261190 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short palm, Large iliac win... |
ORPHA:198 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
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Facial hypotonia, Optic nerve hypoplasia, Micrognathia, Synophrys, Hip dysplasia, Intention tremo... |
OMIM:618381 |
Anauxetic Dysplasia 1 |
|
Mandibular prognathia, Hip contracture, Joint laxity, Severe short stature, Rhizomelia, Hypoplast... |
OMIM:607095 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
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Ventricular septal defect, Short stature, Abnormal pinna morphology, Aplasia/Hypoplasia of the ce... |
ORPHA:75389 |
Restrictive Dermopathy 1 |
|
Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Limb joint cont... |
OMIM:275210 |
Char Syndrome |
|
Ptosis, Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Ventricular septa... |
ORPHA:46627 |
Fryns Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Large for gestational age, Atrial s... |
OMIM:229850 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Cerebellar atrophy, Skeletal muscle atrophy, Limb joint contracture, S... |
OMIM:301072 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Congenital hip dislocation, Congenital diaphragmatic hernia, Atrial septal... |
ORPHA:373 |
Mosaic Trisomy 9 |
|
Micromelia, Micrognathia, Finger clinodactyly, Biparietal narrowing, Endocardial fibroelastosis, ... |
ORPHA:99776 |
5Q14.3 Microdeletion Syndrome |
|
Thick eyebrow, Agenesis of cerebellar vermis, Toe syndactyly, Optic nerve hypoplasia, Upslanted p... |
ORPHA:228384 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Posteriorly rotated ears, Rocker bottom foot, Hearing impairment, Tapered finger, Brachycephaly, ... |
OMIM:601353 |
Alpha-Mannosidosis, Infantile Form |
|
Mandibular prognathia, Osteopenia, Brachycephaly, Cortical thickening of long bone diaphyses, Sub... |
ORPHA:309282 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Joint laxity, Facial hypotonia, Megalencephaly, Wide nasal bridge, Macrocephaly, Atrial septal de... |
OMIM:611087 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th... |
ORPHA:163966 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Proximal placement of thumb, Synophrys, Flexion contracture, Abnormal periventricular white matte... |
ORPHA:487796 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Microcephaly, Tremor, Overfolded helix, Large fleshy ears, Upslanted ... |
OMIM:619092 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Cloverleaf skull, Turricephaly, Craniosynostosis, ... |
ORPHA:65759 |
Marshall Syndrome |
|
Frontal bossing, Cerebral calcification, Short stature, Sparse eyelashes, Micrognathia, Hypoplasi... |
ORPHA:560 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Severe short stature, Posteriorly rotated ears, Micromelia, Bowing of the legs,... |
ORPHA:1865 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Short stature, Posteriorly rotated ears, Hypoplasia of the corpus call... |
OMIM:615102 |
Pelviscapular Dysplasia |
|
Frontal bossing, Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, He... |
ORPHA:93333 |
Muenke Syndrome |
|
Tarsal synostosis, Sensorineural hearing impairment, Brachycephaly, Macrocephaly, Cone-shaped epi... |
ORPHA:53271 |
Distal Xq28 Microduplication Syndrome |
|
Short stature, Impulsivity, Microcephaly, Metatarsus adductus, Hypoplasia of the maxilla, Aggress... |
ORPHA:293939 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Single transverse palmar crease, Microcephaly, Overweight, Tremor, Cranial hyperos... |
ORPHA:457240 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Absent septum pellucidum, Craniosynostosis, Lissencephaly, Cerebellar hyp... |
OMIM:218670 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum... |
OMIM:300106 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Ventricular septal defect, Short stature, Posteriorly rotated ears, Microgn... |
OMIM:300712 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Cerebellar atrophy, Prominent antitragus, Sparse lateral eyebrow, Brachydactyly |
OMIM:618879 |
Mucopolysaccharidosis-Plus Syndrome |
|
Epicanthus, Cerebral calcification, Telecanthus, Microcephaly, Metaphyseal widening, Recurrent pn... |
OMIM:617303 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Femoral hernia, A... |
ORPHA:2588 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Epicanthus, Telecanthus, Short stature, Aganglionic megacolon, Microcephaly, Joint stiffness, Sen... |
ORPHA:847 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Brachydactyly |
ORPHA:168796 |
Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Micrognathia, Bi... |
OMIM:609465 |
Seckel Syndrome 1 |
|
Cerebellar vermis hypoplasia, Abnormal finger flexion crease, Single transverse palmar crease, Mi... |
OMIM:210600 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad long bones, Coxa valga, Wide anterior fontanel, Flared metaphysis, Genu valgum,... |
OMIM:269300 |
Symphalangism, Distal |
|
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis... |
OMIM:185700 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Frontal bossing, Hyperactivity, Microcephaly, Tremor, EEG abnormality, Self-injurious behavior, L... |
OMIM:618718 |
Woods Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Optic atrophy, 3-4 finger cutaneous s... |
OMIM:615236 |
White Forelock With Malformations |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Atrial septal defect, Epicanthus, Joint hyp... |
ORPHA:2475 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Cerebellar atrophy, Ulnar deviation of the hand, Short stature, Abnormal cerebellum morphology, F... |
OMIM:275900 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Sandal gap, Craniosynostosis, Microcephaly, Obesity, W... |
ORPHA:251038 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Limb-girdle muscle weakness, Sensorineural hearing impairmen... |
ORPHA:1215 |
Toriello-Lacassie-Droste Syndrome |
|
Short palm, Epicanthus, Telecanthus, Aganglionic megacolon, Absent septum pellucidum, Hearing imp... |
ORPHA:3339 |
Lissencephaly, X-Linked, 2 |
|
Micrognathia, Wide anterior fontanel, Wide nasal bridge, Lissencephaly, Low-set ears, Pachygyria,... |
OMIM:300215 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Aganglionic megacolon, Microcephaly, Partial agenesis of the corpus callosum, Cerebellar hypoplas... |
OMIM:304100 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... |
ORPHA:98807 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Ventricular septal defect, Aganglionic megacolon, Microcephaly, Micrognathia, Pachygyria, Agenesi... |
ORPHA:452 |
Tarp Syndrome |
|
Single transverse palmar crease, Micrognathia, Atrial septal defect, Small earlobe, Low-set, post... |
ORPHA:2886 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Micrognathia, Recurrent pneumonia... |
OMIM:618282 |
Restrictive Dermopathy |
|
Osteopenia, Decreased fetal movement, Multiple joint contractures, Premature birth, Premature del... |
ORPHA:1662 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Short stature, Interphalangeal ... |
OMIM:151200 |
Developmental And Epileptic Encephalopathy 31B |
|
Reduced cerebral white matter volume, Almond-shaped palpebral fissure, Optic atrophy, Hypsarrhyth... |
OMIM:620352 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Abnormal finger morphology, Symphalangism affecting the phalanges of the h... |
ORPHA:2658 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Short sta... |
ORPHA:3219 |
Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Midface... |
ORPHA:93258 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contra... |
OMIM:601559 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tran... |
OMIM:614779 |
Developmental And Epileptic Encephalopathy 18 |
|
Highly arched eyebrow, Thick corpus callosum, EEG abnormality, Atrial septal defect, Downslanted ... |
OMIM:615476 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Short palm, Neonatal death, Patent foramen ovale, Short toe, Low-set ears, Bo... |
OMIM:269860 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Absent brainstem auditory responses, Foot joint contracture, Scarring, Del... |
ORPHA:90321 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Finger syndactyly, Atrial septal defect, Ptosis, Ventricular septal defect, Highly a... |
ORPHA:1519 |
Noonan Syndrome 4 |
|
Epicanthus, Ventricular septal defect, Short stature, Thickened helices, Large for gestational ag... |
OMIM:610733 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Joint laxity, EEG with parietal epileptiform discharges, Glomerulonephritis, Single transverse pa... |
OMIM:619428 |
Macs Syndrome |
|
Joint laxity, Epicanthus, Short stature, Single transverse palmar crease, Palpebral edema, Microg... |
OMIM:613075 |
Short Stature With Microcephaly And Distinctive Facies |
|
Microretrognathia, Syndactyly, Osteopenia, Severe short stature, Small for gestational age, Front... |
OMIM:615789 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Abnormal ... |
ORPHA:363705 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Epicanthus, Mild postnatal growth retardation, Microcephaly, Micrognathia, Decreas... |
ORPHA:530983 |
Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, Skeletal muscle atrophy, Synophrys, Abnormal periventricular white matter ... |
ORPHA:488632 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Femo... |
OMIM:617952 |
Oculomaxillofacial Dysostosis |
|
Brachydactyly, Short stature, Camptodactyly of finger, Micrognathia, Abnormality of the humerus, ... |
ORPHA:1794 |
Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Epicanthus, Underfolded helix, Dental malocclusion, O... |
OMIM:157980 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Join... |
OMIM:268310 |
Tetrasomy 5P |
|
Pericallosal lipoma, Epicanthus, Overlapping toe, Posteriorly rotated ears, Short hallux, Microgn... |
ORPHA:3309 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short stature, Short metatarsal, Atrial septal defect, Short 4th metacarpal, Type E brachydactyly |
OMIM:113301 |
Band Heterotopia |
|
Subcortical band heterotopia, Plagiocephaly, Lateral ventricle dilatation, Macrocephaly, Polymicr... |
OMIM:600348 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Large for gestational age, Periventricular cysts, Clinodactyly of the 5th finger, Absent eyebrow,... |
ORPHA:544488 |
Khan-Khan-Katsanis Syndrome |
|
Frontal bossing, Cerebellar vermis hypoplasia, Short stature, Postaxial polydactyly, Micrognathia... |
OMIM:618460 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Congenital hip dislocation, Dystonia, Micrognathia, ... |
ORPHA:496641 |
Renpenning Syndrome |
|
Cachexia, Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, ... |
ORPHA:3242 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ptosis, Microcephaly, Ragged-red muscle fibers, Opti... |
OMIM:616239 |
Hypochondroplasia |
|
Frontal bossing, Brachydactyly, Flared metaphysis, Short long bone, Short femoral neck, Dispropor... |
OMIM:146000 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Telecanthus, Hypoplasia of the pons, Prominent ear helix, Synophrys, Multifocal epileptiform disc... |
ORPHA:411986 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous sy... |
OMIM:618454 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Brachycephaly, Tetraphocomelia, Knee flexion contracture, Eyelid coloboma, Shallow ... |
OMIM:268300 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Frontal bossing, Epicanthus, Short stature, Tapered finger, Microcephaly, Micrognathi... |
ORPHA:2479 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Ogden Syndrome |
|
Microretrognathia, Frontal bossing, Torticollis, Inguinal hernia, Ventricular septal defect, Broa... |
ORPHA:276432 |
Down Syndrome |
|
Joint laxity, Epicanthus, Sandal gap, Aganglionic megacolon, Bilateral single transverse palmar c... |
ORPHA:870 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Epicanthus, Short stature, Dysplastic corpus callosum, Sensorineural heari... |
ORPHA:557003 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th... |
OMIM:250460 |
Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Midface retrusion, Cerebellar vermis hypoplasia, Short stature... |
ORPHA:1394 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal cerebellar peduncle morphology, Orthostatic hypotension, Abnormal auditory evoked potent... |
ORPHA:99027 |
Meckel Syndrome, Type 4 |
|
Bowing of the long bones, Agenesis of cerebellar vermis, Ventricular septal defect, Microcephaly,... |
OMIM:611134 |
Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone m... |
ORPHA:1427 |
Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Short stature, Short metatarsal, S... |
ORPHA:93384 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hallux valgus, Inguinal hernia, Thick eyebrow, Sandal gap, Recurrent shoulder dislocation, Abnorm... |
ORPHA:230851 |
X-Linked Intellectual Disability, Armfield Type |
|
Mandibular prognathia, Midface retrusion, Inguinal hernia, Short stature, Epicanthus, Micrognathi... |
ORPHA:85276 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Epicanthus, Sandal gap, Broad hallux, Short stature, Single transverse palmar crease,... |
OMIM:614800 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Congenital diaphragmatic hernia, Microgn... |
OMIM:154400 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacar... |
OMIM:604381 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microcephaly, Sensorineural hearing impairment, Flexion contracture, Hypoplasia of the brainstem,... |
OMIM:615249 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Micrognathia, Flexion contracture, Brachycephaly, Palmoplantar hyperkeratosis, Shallo... |
OMIM:619127 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Frontal bossing, Ventricular septal defect, Sandal gap, Congenital diaphragmatic hernia, Microcep... |
OMIM:612530 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Micrognathia, Synophrys, Aspiration pneumonia, Conductive hearing impairment, Patent foramen oval... |
ORPHA:444077 |
Tetrasomy 15Q26 |
|
Microretrognathia, Arachnodactyly, Cupped ear, Low-set ears, Camptodactyly, Atrial septal defect,... |
OMIM:614846 |
Transketolase Deficiency |
|
Ventricular septal defect, Proportionate short stature, Seborrheic dermatitis, Abnormal repetitiv... |
ORPHA:488618 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Lissencephaly, Hypoplasia of the corpus callosum, Chronic otitis media, Agenesis ... |
OMIM:619466 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Epicanthus, Posteriorly rotated ears, Micrognathia, Microcephaly, Long fingers, Brachycephaly, Up... |
OMIM:156610 |
Lig4 Syndrome |
|
Epicanthus, Psoriasiform dermatitis, Small for gestational age, Microcephaly, Wide nasal bridge, ... |
OMIM:606593 |
Adams-Oliver Syndrome |
|
Finger syndactyly, Brachydactyly, Failure to thrive, Abnormal pulmonary valve morphology, Absent ... |
ORPHA:974 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Frontal bossing, Abnormal pinna morphology, Postaxial polydactyly, Micrognathia, Com... |
OMIM:617925 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Cerebellar atrophy, Atrial septal defect, Frontal bossing, Epicanthus, Posteriorly rotated ears, ... |
OMIM:614080 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Relative macrocephaly, Syndactyly, Decreased muscle mass, Frontal bossing, Small for gestational ... |
ORPHA:96182 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Congenital diaphragmatic hernia, Macrotia, U... |
ORPHA:1780 |
Angelman Syndrome |
|
Mandibular prognathia, Hyperactivity, Flat occiput, Hypoplasia of the maxilla, Paroxysmal bursts ... |
OMIM:105830 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Inguinal hernia, Short s... |
ORPHA:1786 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Skeletal muscle atrophy, Absent brainstem auditory responses, Restless legs,... |
ORPHA:101085 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Short stature, Reduced bone mineral density, Pulmonic stenosis, Atrial... |
OMIM:615279 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Broad metacarpals, Ulna... |
ORPHA:56304 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microretrognathia, Epicanthus, Ventricular septal defect, Failure to thrive in infancy, Microceph... |
OMIM:619418 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Inguinal hernia, Overfolded helix, Chiari type I malformation, Upslanted palpebral fissure, Hypop... |
OMIM:613735 |
Mosaic Trisomy 16 |
|
Large placenta, Single umbilical artery, Premature birth, Intrauterine growth retardation |
ORPHA:1708 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Cerebellar atrophy, Dystonia, Small for gestational age, Failure to thrive in infancy, Short stat... |
OMIM:618891 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Thickened calvaria, Chiari type I malformation, Atrial septal defect, Clinodactyly of the 5th fin... |
ORPHA:466791 |
3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Diaphragmatic eventration, Postnatal growth retardation, Dilated ca... |
OMIM:610198 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Intracerebral periventricular calcifications, Tapered toe, Posteriorly rotated ears, Ca... |
OMIM:608836 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Single transverse palmar crease, Bilateral si... |
OMIM:244300 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Short... |
OMIM:170390 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Otitis media, Compulsive behaviors, Atrial septal defect, Conductive heari... |
ORPHA:353281 |
Ramos-Arroyo Syndrome |
|
Frontal bossing, Severe short stature, Aganglionic megacolon, Carious teeth, Keratitis, Dacryocys... |
ORPHA:1051 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Myopathy, Lateral ventricle dilatation, Hypoplasia of the corpus callo... |
OMIM:616816 |
Teebi-Shaltout Syndrome |
|
Single transverse palmar crease, Small earlobe, Caudal appendage, Syndactyly, Short stature, High... |
OMIM:272950 |
Glutathionuria |
|
Tremor, Agenesis of corpus callosum, Eczema, Action tremor |
OMIM:231950 |
Holoprosencephaly |
|
Flat occiput, Congenital diaphragmatic hernia, Synophrys, Aplasia/Hypoplasia of the cerebellum, D... |
ORPHA:2162 |
Specific Granule Deficiency 2 |
|
Osteopenia, Brachydactyly, Sandal gap, Abnormal pinna morphology, Posteriorly rotated ears, Simpl... |
OMIM:617475 |
Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Congenital diaphragmatic hernia, Pseudoepiphyses, Atrial septal defect, Conduc... |
OMIM:157800 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal ... |
OMIM:271640 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Ptosis, Cerebral calcification, Short stature, Facial palsy, Epicanthus,... |
ORPHA:1358 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... |
OMIM:601455 |
Alg8-Cdg |
|
Small for gestational age, Abnormality of subcutaneous fat tissue, Optic atrophy, Leukoencephalop... |
ORPHA:79325 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Mandibular prognathia, Single transverse palmar crease, Anteverted ears, Protruding ear, Atrial s... |
ORPHA:459070 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Brachycephaly, Lateral ventricle dilatation, Talipes equinovarus, Short corpus callosum, Ptosis |
OMIM:619972 |
Robinow Syndrome |
|
Micrognathia, Atrial septal defect, Fused thoracic vertebrae, Syndactyly, Short stature, Persiste... |
ORPHA:97360 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Barrel-shaped chest, Broad long bones, S... |
OMIM:200610 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa... |
OMIM:271700 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Enlargement of ... |
ORPHA:289157 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Cardiomegaly, Metaphyseal widening, Sparse eyebrow, Split hand, Flat ac... |
OMIM:252500 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Micrognathia, Metaph... |
OMIM:156400 |
Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Orbital cyst, Eyelid coloboma, Hypoplasia of the corpus callosum, Age... |
OMIM:164180 |
Neurooculorenal Syndrome |
|
Mixed hearing impairment, Cerebellar vermis hypoplasia, Dextrocardia, Short hallux, Micrognathia,... |
OMIM:620305 |
Distal Deletion 15Q |
|
Flat occiput, Bicuspid aortic valve, Single transverse palmar crease, Congenital diaphragmatic he... |
ORPHA:1596 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, Short phalanx of... |
OMIM:143095 |
Lig4 Syndrome |
|
Epicanthus, Telecanthus, Microcephaly, Micrognathia, Wide nasal bridge, Brachycephaly, Growth del... |
ORPHA:99812 |
Costello Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Thickened Achilles tendon, Ventricular septal defe... |
ORPHA:3071 |
Monosomy 22Q13.3 |
|
Clinodactyly of the 5th finger, Agenesis of corpus callosum, Hyperactivity, Hair-pulling, Obesity... |
ORPHA:48652 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Cerebral atrophy |
OMIM:613759 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Cerebellar vermis hypoplasia, Flat occiput, Oral-pharyngeal dysphagia, Tremor, Synoph... |
OMIM:300966 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cerebellar vermis hypoplasia, Eczema, Optic atrophy, Brachycephaly, Low-set ears, Dysphagia, Fail... |
OMIM:612379 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Broad toe, Epicanthus, Cerebellar vermis hypoplasia, Highly arched eyebrow, Dysplastic corpus cal... |
OMIM:616900 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Telecanthus, Abnormal pinna morphology, Single transverse palmar crease, Highly arched eyebrow, M... |
ORPHA:495818 |
Charlie M Syndrome |
|
Finger syndactyly, Micrognathia, Split hand, Wide nasal bridge, Triphalangeal thumb, Abnormal met... |
ORPHA:1406 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Microcephaly, Corpus callosum atrophy, Aggressive behavior, Simplified gyr... |
OMIM:619244 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Short stature, Aganglionic megacolon, Microcephaly, Sensorineural hearing impairment, Wide nasal ... |
OMIM:614207 |
Vitamin K Antagonist Embryofetopathy |
|
Hearing impairment, Optic atrophy, Macroglossia, Epiphyseal stippling, Microtia, Intrauterine gro... |
ORPHA:1914 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis, Double outlet right ventricle,... |
OMIM:601127 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Hearing impairment, Disproportionate short stature, Short m... |
ORPHA:1856 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Abnormal cortical gyration, Spinal muscular atrophy, Multiple prenatal f... |
OMIM:616867 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Micrognathia, Cardiomegaly, Secundum atrial se... |
OMIM:300855 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Short metacarpal, Short stature, Avascular necrosis of the capital femoral epiphysis,... |
OMIM:190351 |
Developmental And Epileptic Encephalopathy 90 |
|
EEG with burst suppression, Cerebral atrophy, Hypsarrhythmia, Atrial septal defect, Limb hypertonia |
OMIM:301058 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Missing ribs, Short thorax, Abnormal rib morphology, Posterior rib fusion, Intrauterine growth re... |
ORPHA:1797 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Frontal bossing, Short stature, Cerebral white matter hypoplasia, Tapered finger, Highly arched e... |
OMIM:616728 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypoplasia, Lateral cl... |
OMIM:613091 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Short stature, Anorexia, Sensorineural hearing impairment, Optic atrop... |
ORPHA:49827 |
Oligomeganephronia |
|
Secundum atrial septal defect |
ORPHA:2260 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Flexion contracture, Polydactyly, Failure to thrive |
ORPHA:17 |
Gm1 Gangliosidosis Type 1 |
|
Diffuse cerebral atrophy, Diffuse white matter abnormalities, Abnormal odontoid tissue morphology... |
ORPHA:79255 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Seco... |
OMIM:616881 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Microcephaly, Hypoplasia of the pons, Optic atrophy, Simplified gyral pattern, Dysphagia, Hypsarr... |
OMIM:617669 |
Peters Plus Syndrome |
|
Micromelia, Micrognathia, Bicuspid pulmonary valve, Brachycephaly, Conductive hearing impairment,... |
ORPHA:709 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Cerebellar vermis hypoplasia, Hearing impairment, Micrognathia, Partial agenesis of the corpus ca... |
OMIM:619074 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Eczema, Dysphagia, Short long bone, Stillbirth, Camptodactyly, Neonatal... |
OMIM:619751 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Micrognathia, Bowing of the legs, Knee flexion contracture, Abnormal calcification of... |
OMIM:271665 |
Fryns Syndrome |
|
Low-set, posteriorly rotated ears, Omphalocele, Aganglionic megacolon, Congenital diaphragmatic h... |
ORPHA:2059 |
Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Highly arched eyebrow, Low-set ears, Atrial ... |
OMIM:616898 |
Noonan Syndrome 3 |
|
Chiari type I malformation, Thickened helices, Left unilambdoid synostosis, Atrial septal defect,... |
OMIM:609942 |
Grubben-De Cock-Borghgraef Syndrome |
|
Deviation of finger, Partial agenesis of the corpus callosum, Small hand, Eczema |
ORPHA:2101 |
Goldberg-Shprintzen Syndrome |
|
Hypoplasia of the maxilla, Synophrys, Hypoplasia of the brainstem, Clinodactyly of the 5th finger... |
OMIM:609460 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Short metacarpal, Short stature, Basal ganglia calcification, Short to... |
OMIM:103580 |
Congenital Disorder Of Deglycosylation 2 |
|
Cerebellar vermis hypoplasia, Sandal gap, Ulnar deviation of the hand, Highly arched eyebrow, Mic... |
OMIM:619775 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Partial agenesis of the corpus callosum, ... |
OMIM:616819 |
Xylt1-Cdg |
|
Joint laxity, Coxa valga, Flared metaphysis, Truncal obesity, Short long bone, Short femoral neck... |
ORPHA:370930 |
Brachydactyly Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... |
ORPHA:93396 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Micrognathia, Long nose, Atrial septal defect, Clinodactyly of the 5th finger, Atrioventricular c... |
ORPHA:3047 |
16Q24.3 Microdeletion Syndrome |
|
Frontal bossing, Ventricular septal defect, Optic nerve hypoplasia, Proximal placement of thumb, ... |
ORPHA:261250 |
Hypoplastic Left Heart Syndrome |
|
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia |
ORPHA:2248 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
Noonan Syndrome 2 |
|
Relative macrocephaly, Epicanthus, Mitral stenosis, Ventricular septal defect, Short stature, Mic... |
OMIM:605275 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Micrognathia, Hypoplasia of the corpus callosum, Recurrent otitis medi... |
OMIM:617616 |
Three M Syndrome 2 |
|
Scapular winging, Small for gestational age, Short thorax, Pectus carinatum, Thin ribs, Slender l... |
OMIM:612921 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Syndactyly, Failure to thrive, Cerebellar vermis hypoplasia, Small for ... |
OMIM:619869 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Posteriorly rotated ears, Absent septum pellucidum, Abnormal cortical gy... |
ORPHA:899 |
Isolated Klippel-Feil Syndrome |
|
Abnormal rib morphology, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Sprengel ... |
ORPHA:2345 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Uplifted earlobe, Cal... |
ORPHA:261537 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str... |
ORPHA:93357 |
Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Posteriorly rotated ears, Highly arched eyebrow, Microcephaly, Multiple pr... |
OMIM:618644 |
Right Atrial Isomerism |
|
Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Situs inversus ... |
OMIM:208530 |
Short Syndrome |
|
Inguinal hernia, Severe short stature, Lipodystrophy, Abnormal dental enamel morphology, Telecant... |
ORPHA:3163 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Cerebellar atrophy, Short stature, Posteriorly rotated ears, Hearing impairment, Basal ganglia ca... |
OMIM:617763 |
Lowry-Wood Syndrome |
|
Small for gestational age, Short stature, Microcephaly, Squared iliac bones, Hip dislocation, Elb... |
OMIM:226960 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Sandal gap, Short stature, Posteriorly rotated ears, Microcephaly, Small hand, Brachycephaly, Sho... |
OMIM:618885 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Proximal placement of thumb, Atopic dermatitis, Chiari malformation, T... |
OMIM:618624 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Cortical dysplasia, Synophrys, Self-injurious behavior, Atrial... |
ORPHA:261272 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Uplifted earlobe, Cal... |
ORPHA:261552 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect, Pachygyria, Dystonia |
OMIM:620094 |
Nicolaides-Baraitser Syndrome |
|
Single transverse palmar crease, Short metatarsal, Prominent interphalangeal joints, Sparse media... |
OMIM:601358 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Mixed hearing impairment, Calcaneal epiphyseal stippling, Ventricular septal defect, Optic nerve ... |
ORPHA:79345 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Stiff neck, Micrognathia, ... |
OMIM:617022 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Mucopolysaccharidosis Type 2 |
|
Abnormal tricuspid valve morphology, Conductive hearing impairment, Abnormal repetitive mannerism... |
ORPHA:580 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Brachydactyly, Short stature, Dental malocclusion, EEG abnormality, Hip dy... |
ORPHA:1858 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Patent foramen ovale, Attention deficit hyperactivity disorder, Microcephaly |
OMIM:617182 |
Brachydactyly Type E |
|
Frontal bossing, Short metacarpal, Short stature, Aplasia/Hypoplasia of the distal phalanx of the... |
ORPHA:93387 |
Becker Nevus Syndrome |
|
Micromelia, Pectus excavatum, Abnormal tibia morphology, Rib fusion, Upper limb asymmetry, Pectus... |
ORPHA:64755 |
Congenital Myopathy 13 |
|
Skeletal muscle atrophy, Telecanthus, Short stature, Microcephaly, Fatty replacement of skeletal ... |
OMIM:255995 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Camptodactyly of finger, Large placenta, Breech presentation, Cryptorchi... |
OMIM:249000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Decreased muscle mass, Short stat... |
OMIM:309583 |
Orofaciodigital Syndrome Type 5 |
|
Frontal bossing, Aganglionic megacolon, Microcephaly, Ectopic accessory finger-like appendage, Po... |
ORPHA:2919 |
Fanconi Anemia, Complementation Group D2 |
|
Small for gestational age, Short stature, Absent thumb, Absent radius, Preaxial hand polydactyly,... |
OMIM:227646 |
Kbg Syndrome |
|
Single transverse palmar crease, Synophrys, Brachycephaly, Protruding ear, Short palm, Clinodacty... |
OMIM:148050 |
15Q11.2 Microdeletion Syndrome |
|
Dilated fourth ventricle, Thick cerebral cortex, Ventricular septal defect, Abnormal pinna morpho... |
ORPHA:261183 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Micrognathia, Epicanthus inversus, Protruding ear, Agenesis of corpus callosum, Syndactyly, Absen... |
OMIM:618820 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the cerebellum, Situs inversus totalis, ... |
ORPHA:990 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Toe syndactyly, Sensorineural hearing impairment, Absent middle phalanx of 5th finger, Bilateral ... |
OMIM:124480 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Arachnodactyly, Ventricular septal defect, Eczema, Micrognathia, Minimal change gl... |
OMIM:618348 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Eyelid coloboma, Anotia... |
ORPHA:268249 |
Trisomy 9P |
|
Bilateral single transverse palmar creases, Microcephaly, Brachycephaly, Protruding ear, Impacted... |
ORPHA:236 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Bilateral single transverse palmar creases, Proximal placement of thumb, C... |
ORPHA:1120 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Uveitis, Subcortical cerebral atrophy, Conjunctivitis, Agenesis of co... |
ORPHA:2273 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Cerebral calcification, Lipodystrophy, Absent septum pellucidum, Abnor... |
ORPHA:2396 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Single transverse palmar crease, Tibial bowing, Opisthotonus, Sh... |
OMIM:269150 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Pectus excavatum, Abnormal rib morphology, Fused cerv... |
ORPHA:2522 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Synophrys, Protruding ear, Hippocampal atrophy, Patent foramen ovale, Abnormal repe... |
OMIM:619325 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li... |
OMIM:147750 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Narrow grea... |
OMIM:312870 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Preaxial hand polydactyly, Postaxial han... |
OMIM:263520 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Synophr... |
OMIM:605282 |
Joubert Syndrome 14 |
|
Epicanthus, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ventricular septal defec... |
OMIM:614424 |
Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Metaphyseal widening, Synophrys, Short phalanx of finger, Genu v... |
OMIM:615777 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Flat occiput, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic he... |
OMIM:614294 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle... |
ORPHA:3240 |
Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Frontal bossing, Ventricular septal defect, Micrognathia, Micr... |
ORPHA:1926 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Generalized joint laxity, Brachycephaly, Protruding ear, Atrial septal defect, Microretrognathia,... |
OMIM:601776 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Joint laxity, Epicanthus, Sparse eyebrow, Dental malocclusion, Brachydactyly |
OMIM:619692 |
Opsismodysplasia |
|
Frontal bossing, Abnormally ossified vertebrae, Severe short stature, Flat occiput, Tapered finge... |
ORPHA:2746 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo... |
ORPHA:249 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Abnormal clavicle morphology, Mi... |
ORPHA:958 |
9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Postnatal growth retardation, Aplasia/Hypoplasia of the corpus callosum, Abnorm... |
ORPHA:531151 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Epicanthus, Short stature, Cupped ear, Overfolded helix, Brachycephaly, Contracture of the proxim... |
OMIM:618223 |
Arthrogryposis And Ectodermal Dysplasia |
|
Skeletal muscle atrophy, Absent eyebrow, Entropion, Short stature, Abnormal dental enamel morphol... |
OMIM:601701 |
Fanconi Anemia |
|
Micrognathia, Abnormal eyelid morphology, Abnormal femur morphology, Reduced bone mineral density... |
ORPHA:84 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Micrognathia, Large for gestational age, Flexion contracture, Knee flexion contracture, Increased... |
OMIM:300868 |
Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Short stature, Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repe... |
OMIM:617270 |
Coloboma Of Macula With Type B Brachydactyly |
|
Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph... |
OMIM:120400 |
Cardiomyopathy, Dilated, 1Oo |
|
Atrial septal defect, Dilated cardiomyopathy |
OMIM:620247 |
Duplication Of The Pituitary Gland |
|
Midface retrusion, Short stature, Abnormality of joint mobility, Microcephaly, Supernumerary toot... |
ORPHA:314621 |
Doors Syndrome |
|
Abnormal finger morphology, Brachycephaly, Triphalangeal thumb, Aspiration pneumonia, Clinodactyl... |
ORPHA:79500 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Coxa valga, Short thorax, Abnormal rib morphology, Reduced bone mineral... |
ORPHA:582 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, Clinodactyly of the 5th finge... |
OMIM:616975 |
Peripheral Dysostosis |
|
Short stature, Joint stiffness, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the han... |
ORPHA:1795 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... |
OMIM:602418 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Ventricular septal defect, Microcephaly, Hip dysplasia, Lissencephaly, Low-... |
OMIM:613404 |
Cinca Syndrome |
|
Frontal bossing, Hearing impairment, Retrobulbar optic neuritis, Sensorineural hearing impairment... |
ORPHA:1451 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Micrognathia, Abnormal rib mo... |
ORPHA:2050 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Abnormal eyelid morphology, Atrial septal defect, Chronic otitis media, Conductive ... |
ORPHA:567 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Hyperactivity, Short stature, Microcephaly, Micrognathia, Postnatal growth retardatio... |
OMIM:608747 |
Mosaic Trisomy 8 |
|
Frontal bossing, Short stature, Camptodactyly of finger, Abnormal pinna morphology, Micrognathia,... |
ORPHA:96061 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Short stature, Short toe, Sensorineural hearing impairment, Obesity, Keloids,... |
ORPHA:3085 |
Weill-Marchesani Syndrome 3 |
|
Short stature, Joint stiffness, Pulmonic stenosis, Aortic valve stenosis, Brachydactyly |
OMIM:614819 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Cor triatriatum, Pulmonic stenosis |
OMIM:612541 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bicuspid aortic valve, Single transverse palmar crease, Synophrys, Protruding ear, Tics, Otitis m... |
OMIM:619475 |
Acromelic Frontonasal Dysplasia |
|
Telecanthus, Midline central nervous system lipomas, Aplasia/Hypoplasia of the tibia, Brachycepha... |
ORPHA:1827 |
Primrose Syndrome |
|
Skeletal muscle atrophy, Cerebral calcification, Hypoplasia of the maxilla, Synophrys, Flexion co... |
OMIM:259050 |
Meier-Gorlin Syndrome 1 |
|
Micrognathia, Lateral clavicle hook, Flexion contracture, Flat glenoid fossa, Pectus carinatum, C... |
OMIM:224690 |
Crouzon Syndrome |
|
Mandibular prognathia, Frontal bossing, Sagittal craniosynostosis, Hypoplasia of the maxilla, Ker... |
OMIM:123500 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Turricephaly, Iliac crest serration, Metaphyseal chondrodysplasia, Myocarditis,... |
ORPHA:93317 |
Mucolipidosis Type Ii |
|
Knee flexion contracture, Abnormal long bone morphology, Otitis media, Shallow orbits, Conductive... |
ORPHA:576 |
Gorlin-Chaudhry-Moss Syndrome |
|
Short stature, Abnormal eyelid morphology, Hypoplasia of the maxilla, Brachycephaly, Upper eyelid... |
ORPHA:2095 |
Lateral Meningocele Syndrome |
|
Decreased muscle mass, Bicuspid aortic valve, Micrognathia, Chiari type I malformation, Conductiv... |
OMIM:130720 |
Early Infantile Epileptic Encephalopathy |
|
Diffuse cerebral atrophy, Tremor, Diffuse white matter abnormalities, Choreoathetosis, Pachygyria... |
ORPHA:1934 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Short stature, Craniosynostosis, Brachycephaly, Low-set ears, Macrotia, Downslan... |
ORPHA:314575 |
Pseudohypoparathyroidism Type 1A |
|
Thickened calvaria, Cerebral calcification, Basal ganglia calcification, Short metatarsal, Reduce... |
ORPHA:79443 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Knee... |
OMIM:600920 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Single transverse palmar crease, Cutaneous finger syndactyly, Short palm, Agenesis of corpus call... |
OMIM:618419 |
Genitopatellar Syndrome |
|
Congenital hip dislocation, Micrognathia, Knee flexion contracture, Atrial septal defect, Pachygy... |
OMIM:606170 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Hypoplastic ilia... |
OMIM:187600 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Ventricular septal defect, Secondary microcephaly, Cerebellar hypoplasia, Neon... |
OMIM:613730 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Restlessness, Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation... |
OMIM:619517 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem... |
OMIM:304120 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Bowing of the long bones, Failure to thrive, Camptodactyly of fin... |
ORPHA:90652 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Reduced bone mineral den... |
ORPHA:2911 |
Microphthalmia, Syndromic 2 |
|
Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Laterally curved eyebrow, Atr... |
OMIM:300166 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Shor... |
OMIM:180700 |
Transaldolase Deficiency |
|
Ventricular septal defect, Small for gestational age, Wide anterior fontanel, Synophrys, Low-set ... |
OMIM:606003 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Attention deficit hyperactivity disorder, Macrocephaly, Abnormal repetitive mannerism... |
OMIM:620065 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Flat occiput, Hypoplasia of the maxilla, Clinodactyly, Brachycephaly, Cond... |
OMIM:614188 |
Congenital Myopathy 11 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:619967 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Brachydactyly, Turricephaly, Short stature, Ptosis, Wid... |
ORPHA:710 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Protruding ear, Hypoplasia of the brainstem, Clinodactyly of the 5th... |
ORPHA:464306 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Abnormal eyelid morphology, Agenesis of corpus cal... |
ORPHA:2556 |
Yuan-Harel-Lupski Syndrome |
|
Joint laxity, Epicanthus, Bicuspid aortic valve, Sandal gap, Ventricular septal defect, Decreased... |
OMIM:616652 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Hyperactivity, Small for gestational age, Asymmetry of the ears, Microcephaly, ... |
OMIM:617796 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Frontal bossing, Telecanthus, Sparse eyelashes, Recurrent fractures, Proportionate s... |
ORPHA:2108 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Vertebral fusion, Inguinal hernia, Posteriorly rotated ears, Down-sloping shoulders, ... |
OMIM:227330 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Slender build, Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle m... |
OMIM:615156 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ventricular septal defect, Flexion contra... |
OMIM:619306 |
Achondroplasia |
|
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... |
OMIM:100800 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Abnormal rib morphology, Abnormality of the humeroulnar joint, Obesity |
ORPHA:2234 |
Mosaic Variegated Aneuploidy Syndrome |
|
Low-set, posteriorly rotated ears, Atrial septal defect, Frontal bossing, Epicanthus, Short statu... |
ORPHA:1052 |
Alexander Disease |
|
Osteopenia, Frontal bossing, Cerebral calcification, Facial palsy, Megalencephaly, Tremor, Dyspha... |
ORPHA:58 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Inguinal hernia, Hypoplastic right heart,... |
OMIM:617403 |
Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, Congenital diaphragmatic hernia, Uplifted earlobe, Cortical dysplasi... |
OMIM:613406 |
8Q24.3 Microdeletion Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micromelia, Finger clinodactyly, Tic... |
ORPHA:508488 |
Buratti-Harel Syndrome |
|
Atrial septal defect, Epicanthus, Broad hallux, Posteriorly rotated ears, Recurrent pneumonia, Mi... |
OMIM:619314 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal... |
ORPHA:3250 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Chiari type I malformation, Thickened helices, Atrial septal defect, Patent foramen ovale, Dandy-... |
OMIM:617506 |
Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Microcephaly, Micrognathia, Limitation of joint mobility, Optic atr... |
ORPHA:99742 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Osteopenia, Short stature, Sensorineural hearing impairment, Ectrodactyly, Delayed puberty, Clino... |
OMIM:147950 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Unilateral ptosis, Decreased muscle mass, Synophrys, Brachycephaly, Thicke... |
ORPHA:3063 |
Emery-Nelson Syndrome |
|
Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Meta... |
ORPHA:1927 |
Hyperprolinemia, Type I |
|
EEG abnormality, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Ptosis, Microcephaly, Dysplastic corpus callosum, Cupped ear, Large earlobe, Colpocephaly, Agenes... |
OMIM:619955 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Short stature, Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly... |
OMIM:617914 |
Weyers Acrofacial Dysostosis |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Prominent antihelix, Short palm, Clinodac... |
OMIM:193530 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Optic atro... |
OMIM:252650 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Cerebral atrophy, Stereotypical hand wringing, Self-injurious behavior, Talip... |
OMIM:618917 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Cicatricial lagophthalmos, Flexion contracture, Ankylobl... |
OMIM:263650 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Reduced cerebral white matter volume, Synophrys, Brachycephaly, Long fibula, Simple ear, Joint la... |
OMIM:610442 |
Shwachman-Diamond Syndrome 1 |
|
Small for gestational age, Anterior rib cupping, Metaphyseal sclerosis, Metaphyseal chondrodyspla... |
OMIM:260400 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Uplifted earlobe, Cal... |
ORPHA:2152 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Long palm, Arachnodactyly, Missing ribs, Abnormal rib morphology, Joint hyperflexibility, Clinoda... |
ORPHA:2759 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia, Dysplastic corpus callosum, Hypoplasia of the brainstem, Colpocephaly, Po... |
ORPHA:250972 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal rib morphology, Obesity, Sprengel anomaly, Brachydactyly |
ORPHA:2180 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Short stature, Pulmonic ... |
OMIM:602782 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Short stature, Coxa valga, Genu valgum, Conductive hearing impairment, Shor... |
OMIM:132450 |
Pallister-Hall Syndrome |
|
Large for gestational age, Atrial septal defect, Atrioventricular canal defect, Paroxysmal bursts... |
ORPHA:672 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Obesity, Osteoporos... |
OMIM:612463 |
Fucosidosis |
|
Decreased muscle mass, Lipoatrophy, Cardiomegaly, Brachycephaly, Failure to thrive, Hearing impai... |
ORPHA:349 |
Non-Distal Deletion 10Q |
|
Ptosis, Epicanthus, Bilateral single transverse palmar creases, Synophrys, Wide nasal bridge, Ups... |
ORPHA:1581 |
Nizon-Isidor Syndrome |
|
Unilateral ptosis, Aggressive behavior, Sparse eyebrow, Long fingers, Upper eyelid edema, Downsla... |
OMIM:618872 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Ventricular septal defect, Foot oligodactyly, Truncus arteriosus, Calvarial skull def... |
OMIM:616589 |
Joubert Syndrome With Renal Defect |
|
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Aganglionic megacolon, Highly ar... |
ORPHA:220497 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Single transverse palmar crease, Long nose, Atrial septal defect, Clinodactyly of the 5th finger,... |
OMIM:619522 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cerebral white matter hypoplasia, Tapered finger, Sparse eyebrow, Short thumb, Enlarged cerebellu... |
ORPHA:477993 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly, Oligodactyly |
OMIM:614416 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Lateral clavicle hook, Horizontal ribs, Early ossification of capital fem... |
OMIM:208500 |
Aase-Smith Syndrome I |
|
Abnormal pinna morphology, Ventricular septal defect, Flexion contracture, Talipes equinovarus, S... |
OMIM:147800 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect, Small for gestational age, Microcephaly |
OMIM:615160 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Short stature, Situs inversus totalis, Sensorineural hearing impairmen... |
OMIM:249270 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Frontal bossing, Absent eyebrow, Abnormal dental enamel morphology, Eczema, Tarsal synostosis, Ap... |
ORPHA:85199 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Short stature, Posteriorly rotated ears, ... |
ORPHA:264200 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Craniosynostosis, Preaxial hand ... |
ORPHA:1553 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Micrognathia, Long nose, Abnormal finger morphology, Short palm, Large il... |
ORPHA:2636 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Frontal bossing, Abnormal fingertip morphology, Postnatal growth retardation, Almond-shaped palpe... |
ORPHA:529965 |
2q37 monosomy |
|
Brachydactyly |
DECIPHER:44 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Diaphragmatic eventration, Severe short stature, Ventricular septal defect,... |
OMIM:601186 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Knee flexion contracture, Clinodactyly of the 5th finger, Bilateral single transverse palmar crea... |
ORPHA:488642 |
Pseudopseudohypoparathyroidism |
|
Short stature, Short distal phalanx of the 3rd finger, Ectopic ossification, Short metatarsal, Ob... |
ORPHA:79445 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Pectus excavatum, Hypoplasia of t... |
OMIM:212780 |
Pilarowski-Bjornsson Syndrome |
|
Frontal bossing, Postnatal growth retardation, Almond-shaped palpebral fissure, Long eyelashes, D... |
OMIM:617682 |
Alg6-Cdg |
|
Shortening of all distal phalanges of the fingers, Macroglossia, Cerebellar hypoplasia, Low-set e... |
ORPHA:79320 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Ventricular septal defect, Rocker bottom foot,... |
ORPHA:163979 |
Autosomal Dominant Robinow Syndrome |
|
Micromelia, Micrognathia, Coxa vara, Short palm, Clinodactyly of the 5th finger, Finger syndactyl... |
ORPHA:3107 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Mandibular prognathia, Osteopenia, Short metatarsal, Short metacarpal, Rhizomelia, Cone-shaped ep... |
OMIM:614813 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Situs i... |
OMIM:615994 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
3-Methylglutaconic Aciduria, Type Iv |
|
Inguinal hernia, Single transverse palmar crease, Biventricular hypertrophy, Subvalvular aortic s... |
OMIM:250951 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Frontal bossing, Highly arched eyebrow, Aggressive behavior, Tapered f... |
OMIM:618825 |
Keutel Syndrome |
|
Short stature, Ventricular septal defect, Hearing impairment, Optic atrophy, Recurrent sinusitis,... |
ORPHA:85202 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Incr... |
OMIM:305620 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplas... |
OMIM:276820 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Proportionate short stature, Microcephaly, Cupped ear, Microtia, Low-s... |
OMIM:609654 |
Melas |
|
Short stature, Aplasia/Hypoplasia of the cerebral white matter, Basal ganglia calcification, Sens... |
ORPHA:550 |
Bilateral Generalized Polymicrogyria |
|
Short stature, Oculogyric crisis, Microcephaly, Oral-pharyngeal dysphagia, Diffuse white matter a... |
ORPHA:208447 |
Orofaciodigital Syndrome Xiv |
|
Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corpus callosum, Preaxial pol... |
OMIM:615948 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Simplified gyral pattern, Protruding ear, Cerebellar hemisphere hypopl... |
ORPHA:500150 |
Osteoglosphonic Dysplasia |
|
Inguinal hernia, Severe short stature, Failure to thrive in infancy, Rhizomelia, Craniosynostosis... |
ORPHA:2645 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Flat occiput, Overlapping toe, Posteriorly rotated ears, Craniosynostosis, Cloverlea... |
OMIM:123790 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Joint stiffness, Elbow dislocation, Metatarsus adductus, Coxa valga, Hypo... |
ORPHA:2557 |
Charge Syndrome |
|
Abnormal tibia morphology, Eyelid coloboma, Hypoplasia of the semicircular canal, Abnormality of ... |
ORPHA:138 |
Gracile Bone Dysplasia |
|
Failure to thrive, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification,... |
OMIM:602361 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Frontal bossing, Short metacarpal, Failure to thrive, Short stature, Eczema, Ptosis, Microcephaly... |
OMIM:617157 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Knee flexion contracture, Agenesis of corpus callosum, Prominent crus of helix,... |
OMIM:619194 |
Cardiospondylocarpofacial Syndrome |
|
Severe short stature, Mitral valve prolapse, Short palm, Conductive hearing impairment, Failure o... |
ORPHA:3238 |
Semilobar Holoprosencephaly |
|
Limb dystonia, Short stature, Proboscis, Microcephaly, Sensorineural hearing impairment, Flexion ... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Limb dystonia, Short stature, Proboscis, Microcephaly, Sensorineural hearing impairment, Flexion ... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Limb dystonia, Short stature, Proboscis, Microcephaly, Sensorineural hearing impairment, Flexion ... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Limb dystonia, Short stature, Proboscis, Microcephaly, Sensorineural hearing impairment, Flexion ... |
ORPHA:93924 |
Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
Laron Syndrome |
|
Delayed eruption of teeth, Severe short stature, Micrognathia, Short toe, Osteoarthritis, Abnorma... |
ORPHA:633 |
Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Failure to thrive, Cerebral calcification, Microcephaly, Lissencephaly, Cerebe... |
OMIM:251290 |
Viss Syndrome |
|
Chronic gastritis, Micrognathia, Generalized joint laxity, Brachycephaly, Right ventricular dilat... |
OMIM:619472 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Plagiocephaly, EEG abnormality, Abnormal repetitive mannerisms, Inflexible ... |
OMIM:300495 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Single transverse palmar crease, Synophrys, Joint contracture of the 5th finger, Atri... |
ORPHA:363611 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, Short stature, Overweight, Sensorineural hearing impairment, Head-bang... |
OMIM:619575 |
Holoprosencephaly 14 |
|
Cerebellar atrophy, Frontal bossing, Ventricular septal defect, Absent septum pellucidum, Probosc... |
OMIM:619895 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Sparse eyelashes, Hypoplasia of the maxilla, Absent eyelashes, Lacrima... |
OMIM:106260 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Hypointensity of cerebr... |
ORPHA:206436 |
Pancreatic And Cerebellar Agenesis |
|
Secundum atrial septal defect |
OMIM:609069 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Capitate-hamate fusion, Postaxial hand polydactyly, Commo... |
OMIM:225500 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Skeletal muscle atrophy, Micrognathia, Triphalangeal thumb, Abno... |
ORPHA:233 |
Cardioacrofacial Dysplasia 2 |
|
Mandibular prognathia, Common atrium, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxia... |
OMIM:619143 |
Immunodeficiency 49 |
|
Natal tooth, Psoriasiform dermatitis, Posteriorly rotated ears, Eosinophilia, Reduced cerebral wh... |
OMIM:617237 |
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Short thumb, Osteoarthritis, Midface retrusion, Brachydactyly |
ORPHA:435804 |
Congenital Disorder Of Deglycosylation 1 |
|
Restlessness, Ptosis, Facial hypotonia, Single transverse palmar crease, Microcephaly, Oral-phary... |
OMIM:615273 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Failure to thrive, Ventricular septal defect, Tracheomalacia, Micrognathia, Metatarsus adductus, ... |
ORPHA:513456 |
Kabuki Syndrome 1 |
|
Congenital hip dislocation, Micrognathia, Protruding ear, Atrial septal defect, Prominent fingert... |
OMIM:147920 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Attached earlobe, Short stature, Micrognathia, Dental malocclusion, Upslanted palpebral fissure, ... |
ORPHA:436245 |
Curry-Jones Syndrome |
|
Bicoronal synostosis, Duplication of thumb phalanx, Megalencephaly, Blepharophimosis, Preaxial ha... |
OMIM:601707 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal thorax morphology, ... |
ORPHA:1318 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Cupped r... |
ORPHA:1145 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal cerebral a... |
ORPHA:275864 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Micrognathia, Sparse eyebrow, Dysplastic corpus callosum, Wide nasal bridge, Cerebellar hypoplasi... |
OMIM:618810 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Vertebral fusion, Frontal bossing, Ventricular septal defect, Optic nerve hy... |
OMIM:206900 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal synostosis, Abnormal morp... |
ORPHA:2639 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Short stature, Brachydactyly |
ORPHA:1276 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Micrognathia, Cerebral atrophy, Growth delay, Atrial septal defect, Failure to t... |
OMIM:614857 |
White-Kernohan Syndrome |
|
Synophrys, Broad medial eyebrow, Epicanthus inversus, Simple ear, Joint laxity, Obesity, Low-set ... |
OMIM:619426 |
Larsen Syndrome |
|
Short metatarsal, Shallow orbits, Conductive hearing impairment, Atrial septal defect, Joint laxi... |
OMIM:150250 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Frontal bossing, Hyperactivity, Ptosis, Sandal gap, Broad hallux, Aggressive behavior, Synophrys,... |
OMIM:616078 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Short stature, Postaxial polydactyly, Preaxial polydactyly... |
OMIM:615503 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Cerebral white matter atrophy, Multiple joint contractures, Secundum atrial septal defect, Abnorm... |
ORPHA:99646 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Microcephaly, Carious teeth, Micrognathia, Long nose, Dental malocclus... |
OMIM:613680 |
Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Brac... |
OMIM:604757 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Frontal bossing, Partial agenesis of the corpus callosum, Optic nerve dysplasia, Obesity, Cerebra... |
OMIM:617296 |
Rhyns Syndrome |
|
Osteopenia, Ptosis, Radial bowing, Short stature, Sensorineural hearing impairment, Osteoporosis,... |
OMIM:602152 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Multiple joint contractures, Small for gestational age, Short stature, Lack of facial... |
ORPHA:2959 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Frontal bossing, Craniosynostosis, Micrognathia, Tapered finger, Microcephaly, Blepharophimosis, ... |
OMIM:620005 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Brachydactyly, Short stature, Clinodactyly, Hearing impairment |
OMIM:610023 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Cerebral atrophy |
ORPHA:306550 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Frontal bossing, Torticollis, Epicanthus, Posteriorly rotated ears, Tapered finger, Partial agene... |
OMIM:619480 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Inguinal hernia, Epicanthus, Ventricular septal defect, Posteriorly ro... |
ORPHA:2789 |
Hypertension And Brachydactyly Syndrome |
|
Short metacarpal, Short stature, Cone-shaped epiphysis, Short phalanx of finger, Type E brachydac... |
OMIM:112410 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Epicanthus, Abnormal distal phalanx morphology of finger, Hypoplasia of th... |
ORPHA:2673 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Frontal bossing, Inguinal hernia, Epicanthus, Overlapping toe, Highly arched eyebrow, Tapered fin... |
OMIM:618653 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Short stature, Acne, Bowing of the legs, Lower limb undergrowth, Brachydactyly |
OMIM:612847 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Congenital muscular torticollis, Vertebral fusion, Vaginal hernia, Short s... |
ORPHA:2916 |
Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly |
OMIM:190680 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Joint laxity, Atrial septal defect, Telecanthus, Toe syndactyly, Bicuspid aortic valve, Small for... |
OMIM:300707 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Failure to thrive, Rocker bottom foot, Micrognathia, Microcephaly, Dysplastic corpus callosum, Fl... |
OMIM:604273 |
Pseudohypoparathyroidism Type 1C |
|
Cerebral calcification, Basal ganglia calcification, Short metatarsal, Conjunctivitis, Broad dist... |
ORPHA:79444 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Epicanthus, Small for gestational age, Absent septum pellucidum, Microcephaly, Conductive hearing... |
OMIM:618500 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Mandibular prognathia, Short stature, Aganglionic megacolon, Microcephaly, Aggressive behavior, U... |
OMIM:300352 |
Microform Holoprosencephaly |
|
Short stature, Microcephaly, Intrauterine growth retardation, EMG: myopathic abnormalities, Tetra... |
ORPHA:280200 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Microcephaly, Simplified gyral pattern, Hypsarrhythmia, Upslanted palpebral fissure, Macrotia, Ab... |
OMIM:619877 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies |
OMIM:307500 |
Fanconi Anemia, Complementation Group F |
|
Short stature, Pneumonia, Absent thumb, Microcephaly, Short thumb, Conductive hearing impairment,... |
OMIM:603467 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Vertebral fusion, Frontal bossing, Down-sloping shoulders, Palmar pits, Ir... |
OMIM:109400 |
Xp21 Deletion Syndrome |
|
Joint laxity, Decreased muscle mass, Osteoporosis, Reduced bone mineral density, Finger clinodact... |
ORPHA:261476 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Limb undergrowth, Shor... |
OMIM:618961 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Osteopenia, Metaphyseal widening, Coxa vara, Genu varum, Rhizomelia, Mesom... |
OMIM:271510 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Mixed hearing impairment, Short stature, Microcephaly, Partial agenesis of the corpus callosum, S... |
OMIM:604804 |
Neuromuscular Oculoauditory Syndrome |
|
Epicanthus, Posteriorly rotated ears, Simple ear, Decreased nerve conduction velocity, Sensorineu... |
OMIM:618733 |
Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Ventricular septal defect, Micrognathia, Absent thumb, Short thumb, 2-3 toe syndac... |
OMIM:617516 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Limited elbow movement, Micrognathia, Chiari type I malf... |
OMIM:218040 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Short stature, Microcephaly, Aggressive behavior, Synophrys, 2-3 toe syndactyly, A... |
ORPHA:391307 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Cryptorchidism, Intrauterine growth retardation, Small placenta, Oligohydramnios |
ORPHA:397590 |
Cerebrooculonasal Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Sparse eyelashes, Sparse eyebrow, Postaxial hand p... |
ORPHA:66625 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Skin rash, Arachnodactyly, Abnormal repetitive mannerisms, Pulmonic stenosis, Atte... |
OMIM:617600 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Ptosis, Telecanthus, Short stature, Wide nasal bridge, Mitral valve prolapse, Increased carrying ... |
OMIM:247410 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Ulnar deviation of the wrist, Joint stiffness, Epiphyseal deformities of tubular bo... |
OMIM:253010 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubular bones, ... |
OMIM:253000 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Frontal bossing, Telecanthus, Short stature, Down-sloping shoulders, Posterior... |
ORPHA:1974 |
Pitt-Hopkins Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Short palm, Thickened helices, Prominen... |
OMIM:610954 |
Chromosome 17Q12 Duplication Syndrome |
|
Facial hypotonia, Micrognathia, Atrial septal defect, Downslanted palpebral fissures, Broad thumb... |
OMIM:614526 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Missing ribs, Pectus carinatum, Posterior rib fusion, Supernumerary ribs |
OMIM:122600 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hyperactivity, Inguinal hernia, Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Oliv... |
ORPHA:457284 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Absent septum pellucidum, Congenital diaphragmatic h... |
OMIM:309801 |
Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
Microphthalmia, Syndromic 6 |
|
Single transverse palmar crease, Uplifted earlobe, Micrognathia, Brachycephaly, Protruding ear, C... |
OMIM:607932 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Persistence of primary teeth, Overweight, Hiatus hernia, Recurrent pne... |
OMIM:619769 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Dilated fourth ventricle, Low-set, posteriorly rotated ears, Telecanthus, Broa... |
ORPHA:434179 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Recurrent fractures, Brachycephaly,... |
OMIM:610968 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Facial hypotonia, Ventricular septal defect, Short stature, Dispropo... |
ORPHA:85194 |
Santos Syndrome |
|
Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu... |
OMIM:613005 |
Cog1-Cdg |
|
Low-set, posteriorly rotated ears, Osteopenia, Failure to thrive, Cerebellar vermis hypoplasia, R... |
ORPHA:263508 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Microcephaly, Hydranencephaly, Truncus arteriosus, Short distal phalan... |
OMIM:601355 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Flat occiput, Brachycephaly, Cerebral atrophy, Horizontal eyebrow, Low-set ears, Hypoplasia of th... |
OMIM:618797 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Overlapping toe, Ventricular septal defect, Microcephaly, Partial agenesis of the corpus callosum... |
OMIM:617478 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Frontal bossing, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Pachygyria, Partial agene... |
OMIM:614643 |
Frontonasal Dysplasia 3 |
|
Absent eyebrow, Posteriorly rotated ears, Sparse eyelashes, Brachycephaly, Wide nasal bridge, Upp... |
OMIM:613456 |
X-Linked Intellectual Disability, Wilson Type |
|
Mandibular prognathia, Inguinal hernia, Microcephaly, Brachycephaly, Growth delay, Lateral ventri... |
ORPHA:85290 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ... |
ORPHA:93296 |
Neurofibromatosis-Noonan Syndrome |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:601321 |
Cdags Syndrome |
|
Frontal bossing, Ectropion, Sparse eyelashes, Sagittal craniosynostosis, Parietal foramina, Spars... |
OMIM:603116 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Epicanthus, Facial hypotonia, Diastasis recti, Microcephaly, Plagiocephaly, Upslanted palpebral f... |
OMIM:616579 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms, Hypsarrhythmia |
OMIM:616341 |
Subependymal Nodular Heterotopia |
|
Interictal EEG abnormality, Partial agenesis of the corpus callosum, EEG with focal sharp slow wa... |
ORPHA:101030 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Micrognathia, Microceph... |
OMIM:301043 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Mixed hearing impairment, Short stature, Large tarsal bones, Micrognathia, ... |
OMIM:215150 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Short metacarpal, Rhizomelia, Highly arched eyebrow, Sparse eyebrow, F... |
ORPHA:263463 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, Coxa vara, Hypoplastic iliac wing, Parietal... |
OMIM:119600 |
X-Linked Intellectual Disability, Nascimento Type |
|
Hypointensity of cerebral white matter on MRI, Hypoplasia of the pons, Synophrys, Compulsive beha... |
ORPHA:163956 |
Cartilage-Hair Hypoplasia |
|
Joint laxity, Metaphyseal dysplasia, Aganglionic megacolon, Absent pubertal growth spurt, Sparse ... |
OMIM:250250 |
Orofaciodigital Syndrome Iv |
|
Epicanthus, Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Porencephalic cys... |
OMIM:258860 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Epicanthus, Bilateral ptosis, Synophrys, 2-3 toe syndactyly, Short foot, Upslanted palpebral fiss... |
OMIM:616351 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholo... |
ORPHA:289 |
X Small Rings |
|
Joint laxity, Epicanthus, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Taper... |
ORPHA:96201 |
Hydrolethalus Syndrome 1 |
|
Omphalocele, Ventricular septal defect, Absent septum pellucidum, Abnormal cortical gyration, Mic... |
OMIM:236680 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Microcephaly, Hiatus hernia, Partial agenesis of t... |
ORPHA:50 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C... |
ORPHA:968 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Micrognathia, Flexion contracture, Increased susceptibility to fractures, Thin ... |
OMIM:312150 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Obesity, Brachydactyly |
OMIM:615982 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Aggressive behavior, Synophrys, Brachycephaly, Upslanted palpebral fissure, Overfolded helix, Ptosis |
OMIM:616083 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Growth delay, Agenesis of corpus callosum, Ventricular septal defect, Hearing impairment |
ORPHA:77298 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Telecanthus, Small earlobe, Hearing impairment, Microcephaly, Aplasia of the distal phalanx of th... |
ORPHA:364577 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Optic disc pallor, Dilated cardiomyopathy, Left ventricular noncompaction, Secondary microcephaly... |
OMIM:619167 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor... |
ORPHA:2756 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect, Growth delay, Short stature, Attention deficit hyperactivity disorder |
OMIM:620211 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Flat occiput, Posteriorly rotated ears, Abnormal cortica... |
ORPHA:2211 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Skeletal muscle atrophy, Abnor... |
ORPHA:570 |
Frontometaphyseal Dysplasia 2 |
|
Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Shor... |
OMIM:617137 |
Mohr Syndrome |
|
Syndactyly, Telecanthus, Short stature, Micrognathia, Hypoplasia of the maxilla, Preaxial hand po... |
OMIM:252100 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Mandibular prognathia, Relative macrocephaly, Joint laxity, Midface retrusion, Rhizomelia, Poster... |
OMIM:612813 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Synophrys, Conductive hearing impairment, Dislocated radial head, Joint... |
OMIM:102500 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ... |
OMIM:615779 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Eunuchoid habitus, Small hypothenar eminence, Arachnodactyly, Thenar muscle atrophy, ... |
ORPHA:2463 |
Progressive Osseous Heteroplasia |
|
Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue, Brachydactyly |
ORPHA:2762 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Limitation of joint mobility, Abnormal rib morphology, Pectus carinatu... |
ORPHA:3068 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Turricephaly, Craniosynostosis, Microcephaly, EEG abnormality, Agenesis of corpus callosum |
ORPHA:1496 |
Lowry-Wood Syndrome |
|
Epiphyseal dysplasia, Short stature, Microcephaly, Joint stiffness, Elbow dislocation, Coxa vara,... |
ORPHA:1824 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Brachycephaly, Craniosynostosis, Midface retrusion |
OMIM:612247 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Hearing impairment, Flexion c... |
ORPHA:90322 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Bicuspid aortic valve, Short long bone, Hypoplastic left heart, Talipes equinov... |
OMIM:618845 |
Muckle-Wells Syndrome |
|
Episcleritis, Skin rash, Camptodactyly of finger, Short stature, Optic atrophy, Uveitis, Arthriti... |
ORPHA:575 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Bicuspid aortic valve, Micrognathia, Gastrointestinal inflammation, Reduced bone mine... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Micrognathia, Gastrointestinal inflammation, Reduced bone mine... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Micrognathia, Gastrointestinal inflammation, Reduced bone mine... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Bicuspid aortic valve, Micrognathia, Gastrointestinal inflammation, Reduced bone mine... |
ORPHA:881 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Microcephaly, Situs inversus totalis |
OMIM:619881 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Coxa vara, Microretrognathia, Scapular winging, Short sta... |
OMIM:278250 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Frontal bossing, Inguinal hernia, Short femur, Metaphyseal spurs, Recurrent fractures... |
OMIM:618188 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Telecanthus, Posteriorly rotated ears, Optic nerve hypoplasia, Broad proximal ph... |
OMIM:607597 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Agyria, Optic nerve hypoplasia, Type II lissencephaly, Micrognathia, Microcephaly, Optic atrophy,... |
OMIM:236670 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Cerebellar vermis hypoplasia, Block vertebrae, Proximal placement o... |
OMIM:304050 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Frontal bossing, Telecanthus, Camptodactyly of finger, Microcephaly, Taper... |
ORPHA:1236 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Failure to thrive, Ventricular septal defect, Small for gestational age, Ankle... |
ORPHA:464311 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly |
OMIM:619248 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Diffuse cerebral atrophy, Ventricular septal defect, Growth delay, Attention deficit hyperactivit... |
OMIM:619908 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect |
OMIM:263630 |
Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Micrognathia, Microcephaly, Preaxial polyda... |
OMIM:243605 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Hearing impairment, Microcephaly, Aggressive behavior, Impulsivity, Paroxysma... |
OMIM:619580 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Frontal bossing, Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Microg... |
ORPHA:440354 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Joint stiffness, Genu valgum, Broad ribs, Abnormal metaphysis morphology, F... |
ORPHA:583 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Hydrolethalus Syndrome 2 |
|
Micrognathia, Postaxial hand polydactyly, Anencephaly, Postaxial foot polydactyly, Preaxial foot ... |
OMIM:614120 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Short stature, Impulsivity, Almond-shaped palpebral fissure, Flexion contracture, Sma... |
ORPHA:398069 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Inguinal hernia, Short stature, Glomerulonephritis, Rhizomelia, Short iliac bones, Metaphyseal wi... |
OMIM:614376 |
Septooptic Dysplasia |
|
Short stature, Absent septum pellucidum, Optic nerve hypoplasia, Polydactyly, Short finger, Agene... |
OMIM:182230 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Generalized dystonia, Partial agenesis of the corpus callosum, Opisthotonus, Choreoathetosis, Dis... |
OMIM:619653 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar dysplasia, Microcephaly, Partial absence of cerebellar vermis, Skeletal muscle hypertr... |
OMIM:613150 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Sprengel anomaly, Shoulder muscle hypoplasia |
OMIM:184400 |
Beckwith-Wiedemann Syndrome |
|
Premature birth, Polyhydramnios, Elevated circulating alpha-fetoprotein concentration, Large plac... |
ORPHA:116 |
Holoprosencephaly 11 |
|
Synophrys, Agenesis of corpus callosum, Thick eyebrow, Microcephaly |
OMIM:614226 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Abnormal medulla oblongata morphology, Abnormal p... |
ORPHA:206448 |
Craniotubular Dysplasia, Ikegawa Type |
|
Thickened calvaria, Metaphyseal dysplasia, Thin bony cortex, Epicanthus, Ventricular septal defec... |
OMIM:619727 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... |
ORPHA:860 |
Shukla-Vernon Syndrome |
|
Cerebellar atrophy, Impulsivity, Aggressive behavior, Tapered finger, Long fingers, Downslanted p... |
OMIM:301029 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... |
ORPHA:70 |
Townes-Brocks Syndrome |
|
Triphalangeal thumb, Atrial septal defect, Clinodactyly of the 5th finger, Limbal dermoid, Agenes... |
ORPHA:857 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal de... |
OMIM:235750 |
Osteogenesis Imperfecta, Type Xv |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Thin ribs |
OMIM:615220 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septa... |
OMIM:306955 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect, Attention deficit hyperactivity disorder, Macrocephaly, Macrotia, Abno... |
OMIM:618504 |
Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Cubitus valgus, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints... |
OMIM:186570 |
Sillence Syndrome |
|
Epicanthus, Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus... |
ORPHA:3168 |
Floating-Harbor Syndrome |
|
Short middle phalanx of the 2nd finger, Atrial septal defect, Conductive hearing impairment, Clin... |
OMIM:136140 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... |
ORPHA:1106 |
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Enlarged interphalangeal joints, Proximal placement of thumb, ... |
ORPHA:2988 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Ptosis, Short metacarpal, Mixed hearing impairment, Short stature, Long ey... |
OMIM:201180 |
Heart-Hand Syndrome, Spanish Type |
|
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly |
OMIM:140450 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Short metacarpal, Short stature, Basal ganglia calcification, Choroid ... |
OMIM:612462 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cerebral calcification, Cerebellar vermis hypoplasia, Rhabdomyolysis, Abnormal basal ganglia morp... |
ORPHA:157 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Tapered finger |
OMIM:618367 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Inguinal hernia, Ventricular septal defect, Short stature, Single transverse p... |
OMIM:614947 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Telecanthus, Ventricular septal defect, Posteriorly rotated ears, Micrognathia, Microcephaly, Apl... |
OMIM:608670 |
Mowat-Wilson Syndrome |
|
Uplifted earlobe, Large basal ganglia, Atrial septal defect, Agenesis of corpus callosum, Short s... |
OMIM:235730 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Protruding ear, Hypoplasia of the brainstem, Short stature, Tapered finger, Supernumerary tooth, ... |
ORPHA:268261 |
Noonan Syndrome 1 |
|
Ptosis, Epicanthus, Ventricular septal defect, Failure to thrive in infancy, Short stature, Micro... |
OMIM:163950 |
Atelosteogenesis Type I |
|
Telecanthus, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral h... |
ORPHA:1190 |
Abcd Syndrome |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Large... |
OMIM:600501 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Short femur, Ventricular septal defect, Absent septum pellucidum, Foot oligodactyly,... |
OMIM:601357 |
Noonan Syndrome 10 |
|
Relative macrocephaly, Epicanthus, Mitral stenosis, Ventricular septal defect, Short stature, Spa... |
OMIM:616564 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Limitation o... |
ORPHA:93260 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Tremor, EEG ... |
ORPHA:206443 |
Grange Syndrome |
|
Syndactyly, Ventricular septal defect, Increased susceptibility to fractures, Short palm |
ORPHA:79094 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Anterior rib cupping, Hypoplasia of the odontoid process, Squared i... |
OMIM:258480 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Micrognathia, Flexion contracture, Increased susceptibility to fractures, Thin ... |
OMIM:253290 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Epicanthus, Ventricular septal defect, Microcephaly, Postaxial hand polydactyly, Hypoplasia of th... |
ORPHA:2519 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Failure to thrive in infancy, Periostitis, Osteolysis, Fused cervical ... |
OMIM:612852 |
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Ptosis, Arachnodactyly, Micrognathia, Long nose, Cone-shaped epiphysis, Joint hyperflexibility, P... |
ORPHA:2824 |
Developmental And Epileptic Encephalopathy 49 |
|
Frontal bossing, Exaggerated startle response, Cerebral calcification, Cerebellar vermis hypoplas... |
OMIM:617281 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Secundum atrial... |
OMIM:619534 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Camptodactyly of finger, Short thorax, Rib fus... |
ORPHA:2311 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Intracerebral periventricular calcifications, Cerebellar vermis hypoplasia, Cerebral calcificatio... |
ORPHA:228308 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Dahlberg-Borer-Newcomer Syndrome |
|
Telecanthus, Short stature, Wide nasal bridge, Mitral valve prolapse, Short distal phalanx of fin... |
ORPHA:1563 |
Distal Deletion 9P |
|
Low-set, posteriorly rotated ears, Epicanthus, Aplasia/Hypoplasia of the earlobes, Wide nasal bri... |
ORPHA:1642 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Failure to thrive, Ventricular septal defect, Tarsal synostosis, Short stature... |
ORPHA:2473 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Klippel-Trénaunay Syndrome |
|
Microcephaly, Upper limb asymmetry, Abnormal tricuspid valve morphology, Macrocephaly, Atrial sep... |
ORPHA:90308 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder morphology, Ab... |
ORPHA:85438 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Frontal bossing, Aggressive behavior, Optic atrophy, 2-3 toe syndactyly, Self-i... |
ORPHA:313892 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Proximal placement of thumb, Microcephaly, Sensorineural hearing impairment, P... |
ORPHA:139471 |
Cat Eye Syndrome |
|
Epicanthus, Ventricular septal defect, Short stature, Micrognathia, Absent radius, Hypoplastic le... |
OMIM:115470 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Bicuspid aortic valve, Aspiration pneumonia, Atrial septal defect, Patent foramen ova... |
ORPHA:438213 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Ventricular septal defect, Tetralogy of Fallot, Aplasia of the abdomi... |
ORPHA:2970 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Eosinophilia, Single transverse palmar crease, Coxa ... |
OMIM:617425 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Craniosynostosis, Microcephaly, Attention deficit hyperactivity disorder, Abnormal repetitive man... |
OMIM:618906 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Single transverse palmar crease, Micrognathia, Conductive hearing impairment, Severe sensorineura... |
OMIM:620186 |
Spondylocarpotarsal Synostosis Syndrome |
|
Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Short metacarpal, Scapular winging, ... |
OMIM:272460 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Mitral atresia, Small for g... |
OMIM:220111 |
Feingold Syndrome 1 |
|
Epicanthus, Ventricular septal defect, Tricuspid stenosis, Posteriorly rotated ears, Micrognathia... |
OMIM:164280 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Severe short stature, Posteriorly rotated ears, Micromelia, Microcephal... |
OMIM:224410 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Crumpled long bones, Rhizomelia, Recurrent fractures, Microme... |
OMIM:610682 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly, Inguinal hernia, Pulmonic stenosis, Right ventricular hypertrophy, Umb... |
OMIM:616028 |
Treacher-Collins Syndrome |
|
Frontal bossing, Failure to thrive, Abnormal dental enamel morphology, Micrognathia, Hypoplasia o... |
ORPHA:861 |
Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Abnormal pinna morphology, Ventricular septal defect, Sensorineural hearing impairment, Fused cer... |
OMIM:214300 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Epicanthus, Short stature, Optic nerve hypoplasia, Tapered finger, Repetitive compulsive behavior... |
ORPHA:401777 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Corpus callosum atrophy, EEG with photopa... |
ORPHA:168491 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Cerebellar vermis hypoplasia, Severe short stature, Micromelia, Microcephaly, O... |
OMIM:600092 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Epicanthus, Bicuspid aortic valve, Small for gestational age, Short stature, Microcepha... |
OMIM:613355 |
Diamond-Blackfan Anemia 1 |
|
Failure to thrive, Epicanthus, Ventricular septal defect, Tricuspid stenosis, Short stature, Abse... |
OMIM:105650 |
Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Mandibular prognathia, Attached earlobe, Mixed hearing impairme... |
ORPHA:1299 |
Fanconi Anemia, Complementation Group C |
|
Epicanthus, Ventricular septal defect, Small for gestational age, Short stature, Absent thumb, Ab... |
OMIM:227645 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Omphalocele, Epicanthus, Overriding aorta, Ventricular septal defect, Telecanthus, Upslanted palp... |
OMIM:601927 |
Recombinant 8 Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Bilateral single transv... |
ORPHA:96167 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased fetal movement, Hip contracture, Premature birth, Nonimmune hydrops fetalis, Polyhydram... |
OMIM:208150 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Epicanthus, Cerebral calcification, Telecanthus, Joint stiffness, Flexion contracture, Optic atro... |
ORPHA:505248 |
Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Decreased calvarial ossificati... |
OMIM:614592 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Omphalocele, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Parachute mi... |
OMIM:265380 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... |
OMIM:200980 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Micrognathia, Protruding ear, Biparietal narrowing, Camptodactyly of toe, ... |
ORPHA:261337 |
Dilated Cardiomyopathy With Ataxia |
|
Bilateral basal ganglia lesions, Diaphragmatic eventration, Repetitive compulsive behavior, Muscu... |
ORPHA:66634 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae, Agenesis of corpus callosum, Abnormal corticospinal tract morphology |
ORPHA:238722 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Frontal bossing, Highly arched eyebrow, Micrognathia, Dolichocephaly, Increased femoral anteversi... |
OMIM:619005 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Mandibular prognathia, Joint laxity, Hyperactivity, Aggressive behavior, Mitral valve prolapse, S... |
ORPHA:449291 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Osteoporosis, Hip dislocation, Reduced bone min... |
OMIM:616507 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Uveitis, Reduce... |
ORPHA:828 |
Cooks Syndrome |
|
Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly |
ORPHA:1487 |
Kapur-Toriello Syndrome |
|
Failure to thrive, Ventricular septal defect, Posteriorly rotated ears, Dysplastic corpus callosu... |
ORPHA:2328 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Micrognathia, Abnormal tibia morphology, Protruding ear, Atrial septal defect, Abnorma... |
ORPHA:363700 |
Kinsship Syndrome |
|
Mandibular prognathia, Osteopenia, Single transverse palmar crease, Micrognathia, Synophrys, Abno... |
OMIM:619297 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Short stature, Epicanthus, Postaxial ... |
OMIM:614091 |
Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Abno... |
ORPHA:2092 |
Developmental And Epileptic Encephalopathy 100 |
|
Single transverse palmar crease, Micrognathia, Bilateral camptodactyly, Synophrys, Small hand, El... |
OMIM:619777 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyl... |
OMIM:615986 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Tapered finger, Microcephaly, Long fingers, Calcaneovalgus deformity, Wide... |
ORPHA:521445 |
Wrinkly Skin Syndrome |
|
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Cerebellar vermis hypoplasia, Gene... |
ORPHA:2834 |
Distal Deletion 19P |
|
Long toe, Low-set, posteriorly rotated ears, Vaginal hernia, Ventricular septal defect, Arachnoda... |
ORPHA:96129 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Epicanthus, Skin rash, Dextrocardia, Stomatitis, Small for gestational age, Short stature, Microt... |
OMIM:277380 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Absent septum pellucidum, Micromelia, Micrognathia, Postaxial ... |
ORPHA:2189 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Brachydactyly, Telecanthus, Joint stiffness, Synophrys, Genu valgum, Hypoplasia of the zygomatic ... |
ORPHA:1295 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Micrognathia, Transposition of the great arteries, Low-set ears, Doubl... |
OMIM:231060 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Failure to thrive in infancy, Aggressi... |
ORPHA:488627 |
Orofaciodigital Syndrome Xix |
|
Frontal bossing, Epicanthus, Toe syndactyly, Broad hallux, Underfolded helix, Type A brachydactyl... |
OMIM:620107 |
Ivic Syndrome |
|
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... |
ORPHA:2307 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Inguinal hernia, Short stature, Recurrent fractures, Reduced bone mineral density, Atrial septal ... |
OMIM:619115 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Ventricular septal defect, Short hallux, Proxi... |
ORPHA:2438 |
8P11.2 Deletion Syndrome |
|
Epicanthus, Short stature, Microcephaly, Micrognathia, External ear malformation, Blepharophimosi... |
ORPHA:251066 |
Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Short stature, Optic nerve hypoplasia, Absent septum pellucidum, Sensorine... |
ORPHA:3157 |
Adams-Oliver Syndrome 1 |
|
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Pachygyria, Calva... |
OMIM:100300 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Growth delay, Clinodactyly of the 5th finger, Abnormal ve... |
OMIM:244600 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Microretrognathia, Recurrent fractures, Pectus excavatum, Thin ribs, Lambdoidal crani... |
OMIM:616294 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Frontal bossing, Mixed hearing impairment, Ptosis, Epicanthus, Broad lateral eyebrow, Obesity, Lo... |
OMIM:608624 |
Williams-Beuren Syndrome |
|
Osteopenia, Bicuspid aortic valve, Flexion contracture, Chiari type I malformation, Atrial septal... |
OMIM:194050 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Ragged-red muscle fibers, Leukoencephalopathy, Hypoplasia of the corp... |
OMIM:614924 |
Alzahrani-Kuwahara Syndrome |
|
Optic disc pallor, Frontal bossing, Ventricular septal defect, Eczema, Coronary sinus enlargement... |
OMIM:619268 |
Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
Infantile Systemic Hyalinosis |
|
Short palm, Osteopenia, Severe short stature, Camptodactyly of finger, Osteomalacia, Recurrent fr... |
ORPHA:2176 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Missing ribs, Aplasia/Hypoplasia of the distal pha... |
ORPHA:1647 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Mandibular prognathia, Disorganization of the anterior cerebellar vermis, Hyperactivity, Cerebell... |
OMIM:300486 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth, Dilated cardiomyopathy, Lacrimal duct atresia, Lateral ventric... |
OMIM:300952 |
Distal Deletion 6P |
|
Atrial septal defect, Epicanthus, Micrognathia, Short foot, Self-injurious behavior, Abnormal epi... |
ORPHA:96125 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ptosis, Short stature, Thickened helices, Tri... |
ORPHA:1587 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Sensorineural hearing impairment, Polydactyly, Cerebellar dysplasia |
OMIM:616490 |
Faciocardiomelic Syndrome |
|
Osteopenia, Ptosis, Telecanthus, Micrognathia, Microcephaly, Large for gestational age, Dental ma... |
OMIM:612731 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Atrial septal defect, Reduced subcutaneous adipose tissue, Ventricular sep... |
ORPHA:769 |
Diamond-Blackfan Anemia |
|
Epicanthus, Ventricular septal defect, Small for gestational age, Short stature, Micrognathia, Ab... |
ORPHA:124 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa... |
OMIM:305600 |
Geleophysic Dysplasia 1 |
|
Short palm, Osteopenia, Mitral stenosis, Camptodactyly of finger, Tricuspid stenosis, Coxa valga,... |
OMIM:231050 |
Hypomandibular Faciocranial Dysostosis |
|
Micrognathia, Hypoplasia of the maxilla, Optic disc coloboma, Atrial septal defect, Coronal crani... |
OMIM:241310 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Epicanthus, Microcephaly, Wide nasal bridge, Cerebral atrophy, Hypsarrhyth... |
OMIM:300896 |
Floating-Harbor Syndrome |
|
Hypoplasia of the maxilla, Long nose, Humeral pseudarthrosis, Compulsive behaviors, Conductive he... |
ORPHA:2044 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Clinodactyly of the 5th finger, Optic atrophy, Short stature, Brachycephaly |
ORPHA:1173 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Sensorineural hearing impairment, Agenesis of corpus callosum, Hypopla... |
OMIM:618748 |
Fanconi Anemia, Complementation Group N |
|
Epicanthus, Ventricular septal defect, Microcephaly, Postnatal growth retardation, Short thumb |
OMIM:610832 |
Cranioectodermal Dysplasia 3 |
|
Joint laxity, Frontal bossing, Telecanthus, Sandal gap, Short stature, Postaxial polydactyly, Mic... |
OMIM:614099 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Large for gestational age, Tibial bowing, Protruding ear, Long hallux, Large hands, Abnormal femo... |
ORPHA:500095 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Synophrys, EEG with central focal spikes, Cholecystitis, Abnormal repetitive mannerisms, Broad me... |
OMIM:301066 |
Okamoto Syndrome |
|
Primum atrial septal defect, Abnormal left ventricle morphology, Wide nasal bridge, Low-set ears,... |
ORPHA:2729 |
Juvenile Polyposis Of Infancy |
|
Frontal bossing, Short stature, Cachexia, Abnormal heart morphology, Clubbing of fingers, Midclav... |
ORPHA:79076 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, White eyelashes, Aganglionic megacolon, White e... |
OMIM:609136 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Neutrophilic infiltration of the skin, Skin rash, Lipodystrophy, Clinodactyly, Failure to thrive,... |
OMIM:618048 |
Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Coxa vara, Pectus carinatum, Wrist flexion contracture, Increased bone ... |
ORPHA:800 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Micrognathia, Metap... |
OMIM:224400 |
Frontorhiny |
|
Low-set, posteriorly rotated ears, Pericallosal lipoma, Ptosis, Epicanthus, Camptodactyly of fing... |
ORPHA:391474 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Abnormal heart valve morphology, Skin rash, Pericardial effusion, Sensorineural hea... |
ORPHA:36412 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Osteopenia, Joint laxity, Inguinal hernia, Sandal gap, Singl... |
OMIM:613177 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Single transverse palmar crease, Dental malocclusion, Short f... |
OMIM:601957 |
Holoprosencephaly 7 |
|
Omphalocele, Frontal bossing, Flat occiput, Hypoplasia of the premaxilla, Microcephaly, Partial a... |
OMIM:610828 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Abnormal rib morphology,... |
ORPHA:2769 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Exercise-induced rhabdomyolysis, Inflammatory abnormality of the skin, Ventricular septal defect,... |
ORPHA:26793 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Synophrys, Clinodactyly of the 5th finger, Prominent fin... |
OMIM:619539 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Short stature, Brachycephaly, Neonatal death, Low-set ears, Talipes equinovarus, Clinodactyly of ... |
OMIM:619859 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the hand, Abnormality of the wrist, Keratitis, Osteoarthritis, ... |
ORPHA:1657 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Papilledema, Mitral valve calcification, Cachexia, Aortic valve calcification, Sen... |
ORPHA:2072 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Absent thumb, Bilateral radial aplasia, Growth delay, Cerebellar hypop... |
OMIM:300514 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Sensorineural hearing impairment, Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
Chiari Malformation Type Ii |
|
Opisthotonus, Chiari malformation, Dysphagia, Limb muscle weakness, Agenesis of corpus callosum |
OMIM:207950 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Aplasia/Hypoplasia of the radius, Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:619111 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Osteoporosis, Narrow chest, Br... |
ORPHA:1517 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Epicanthus, Short stature, Microcephaly, Cupped ear, Protruding ear, Growth delay, Macroglossia, ... |
ORPHA:93947 |
Spondyloocular Syndrome |
|
Long toe, Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Short stature, Posteriorly... |
OMIM:605822 |
Pyruvate Carboxylase Deficiency |
|
Cerebral white matter atrophy, Anorexia, Tremor, Cerebellar gliosis, Periventricular cysts, Recur... |
ORPHA:3008 |
Isotretinoin-Like Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Micrognathia, Microcephaly, Postnatal growth retardation,... |
ORPHA:2306 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventricular canal defect, Common ... |
ORPHA:1330 |
Developmental And Epileptic Encephalopathy 6B |
|
Multifocal epileptiform discharges, EEG with spike-wave complexes (>3.5 Hz), Choreoathetosis, Dys... |
OMIM:619317 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Mandibular prognathia, Relative macrocephaly, Low-set, posteriorly rotated ears, Joint laxity, Rh... |
ORPHA:171866 |
Rett Syndrome |
|
Skeletal muscle atrophy, Dystonia, Stereotypical hand wringing, EEG abnormality, Agitation, Chole... |
ORPHA:778 |
Keutel Syndrome |
|
Sinusitis, Ventricular septal defect, Cerebral calcification, Short hallux, Hearing impairment, C... |
OMIM:245150 |
Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Short stature, Micrognathia, Microcephaly, External ear malformati... |
ORPHA:1305 |
Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Ptosis, Short stature, Abnormal pulmonary valve morphology, Th... |
ORPHA:648 |
Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Cutaneous syndactyly, Tetralogy of Fallot, Pa... |
OMIM:601005 |
Nephrotic Syndrome, Type 11 |
|
Arachnodactyly, Ventricular septal defect, Micrognathia, Minimal change glomerulonephritis, Parti... |
OMIM:616730 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Pituitary dwarfism, Optic nerve hypoplasia, Overweight, Abnormal cerebellum morphology, Delayed p... |
ORPHA:226307 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Epicanthus, Radial bowing, Single transverse palmar crease, Postaxial polydactyly, Micrognathia, ... |
OMIM:617866 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Inguinal hernia, Flat occiput, Ventricular septal defect, Micrognathia, Postaxial hand polydactyl... |
OMIM:235255 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Dystonia, Abnormal repe... |
OMIM:600795 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum |
OMIM:614111 |
Cree Mental Retardation Syndrome |
|
Posteriorly rotated ears, Rocker bottom foot, Micrognathia, Brachycephaly, Cutaneous finger synda... |
OMIM:606851 |
Hydrocephalus, Congenital, X-Linked |
|
Thumb contracture, Absent septum pellucidum, Macrocephaly, Corticospinal tract hypoplasia, Agenes... |
OMIM:307000 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Brachydactyly |
OMIM:613382 |
Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ... |
ORPHA:485 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Horizontal ribs, Squared iliac bones, Preax... |
OMIM:616300 |
Williams Syndrome |
|
Osteopenia, Bicuspid aortic valve, Micrognathia, Cardiomegaly, Tremor, Protruding ear, Compulsive... |
ORPHA:904 |
Transaldolase Deficiency |
|
Atrial septal defect, Biventricular hypertrophy |
ORPHA:101028 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo... |
ORPHA:93346 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Camptodactyly of finger, Short stat... |
ORPHA:3138 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Frontal bossing, Brachydactyly, Inguinal hernia, Short stature, Nasolacrimal duct obstruction, Um... |
ORPHA:3218 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Toe syndactyly, Ventricular septal defect, Dextrocardia, Short stature, Posteriorly rotated ears,... |
OMIM:619657 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Cachexia |
ORPHA:93941 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Micrognathia, Dysplastic tri... |
ORPHA:1724 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Abnormal repetitive mannerisms, Cerebral cortical atrophy, Hypoplasia of the corpus c... |
ORPHA:85277 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormal rib morphology, Micrognathia |
OMIM:601076 |
Phace Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Abnormal heart morphology, Abnormality of the orbital regio... |
ORPHA:42775 |
Severe Congenital Nemaline Myopathy |
|
Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Arthrogr... |
ORPHA:171430 |
Radio-Renal Syndrome |
|
Micromelia, Micrognathia, Hypoplasia of the radius, Abnormality of the elbow, Abnormal rib morpho... |
ORPHA:3015 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Osteomyelitis, Short stature, Dysplastic corpus callosum, Arthritis, Secondary microcephaly, Gene... |
OMIM:619423 |
Wolcott-Rallison Syndrome |
|
Metaphyseal dysplasia, Short stature, Microcephaly, Growth delay, Decreased body weight, Atrial s... |
ORPHA:1667 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal metacarpophalangeal joint morphology, Abnormality of the temporomandibular joint, Mild p... |
ORPHA:85408 |
Pgm3-Cdg |
|
Mild neurosensory hearing impairment, Membranoproliferative glomerulonephritis, Osteomyelitis, Ec... |
ORPHA:443811 |
Lethal Congenital Contracture Syndrome 5 |
|
Congenital contracture, Flexion contracture, Small for gestational age, Thin ribs |
OMIM:615368 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Talipes equinovarus, Ventricular septal defect, Atresia of the external auditory canal |
OMIM:209770 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Epicanthus, Severe short stature, Abnormal nasolacrimal system morphology, Microcephaly, Abnormal... |
ORPHA:2526 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Long palm, Tapered finger, Metatarsus... |
ORPHA:2215 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Aganglionic megacolon, Postaxial polydactyly, Hearing impairment, Postaxial hand poly... |
OMIM:209900 |
Rett Syndrome, Congenital Variant |
|
Tongue thrusting, Simplified gyral pattern, Bruxism, Protruding ear, EEG abnormality, Athetosis, ... |
OMIM:613454 |
Trisomy 8Q |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Joint stiffness, Bone c... |
ORPHA:1752 |
Pallister-Hall Syndrome |
|
Neonatal death, Distal shortening of limbs, Syndactyly, Mesoaxial foot polydactyly, Short stature... |
OMIM:146510 |
Charge Syndrome |
|
Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Dysplastic tricuspid ... |
OMIM:214800 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Joint laxity, Reduced subcutaneous adipose tissue, Entropion, Overlapping ... |
OMIM:617402 |
Pentalogy Of Cantrell |
|
Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic... |
ORPHA:1335 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... |
OMIM:609441 |
Oculoectodermal Syndrome |
|
Giant cell granuloma of mandible, Hyperactivity, Epicanthus, Limbal dermoid, Wide nasal bridge, G... |
OMIM:600268 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Limited elbow movement, Joint stiffness, Micrognathia, Flexion contracture, Os... |
OMIM:614008 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Microcephaly, Situs inversus totalis, Atrioventricular canal defect, Left atrial is... |
OMIM:605376 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormality of the anterior commissure, Optic nerve hypoplasia, Hip dislocation, Dysphagia, Aplas... |
ORPHA:572013 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Brachycephaly, Cutaneous finger synd... |
OMIM:211380 |
Frontofacionasal Dysplasia |
|
Frontal cutaneous lipoma, Telecanthus, Brachycephaly, Ankyloblepharon, Eyelid coloboma, S-shaped ... |
OMIM:229400 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Inguinal hernia, Flat occiput, Ventricular septal defect, Micrognathia, Postnatal growth retardat... |
ORPHA:1655 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Abnormally ossified vertebrae, Micrognathia, Optic atrophy, Aplasia/Hypopl... |
ORPHA:3301 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Short stature, Microcephaly, Sensorineural hearing impairment, Hypoplastic left heart, Aortic val... |
OMIM:617660 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Sandal gap, Broad hallux, Persistence of primary teeth, Scarring alopecia of scalp... |
OMIM:618727 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral fusion, Rib fusion, Block vertebrae |
OMIM:277300 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology |
ORPHA:2578 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Small for gestational age, Ventricular septal defect, EEG abnormality, Intraute... |
OMIM:617021 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
OMIM:140000 |
Satoyoshi Syndrome |
|
Short metacarpal, Short stature, Short metatarsal, Osteolytic defects of the phalanges of the han... |
OMIM:600705 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Micrognathia, Aplasia of the ulna, Abnormal ... |
ORPHA:2879 |
Banki Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... |
ORPHA:1228 |
Congenital Tricuspid Valve Dysplasia |
|
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... |
ORPHA:555874 |
Osteopetrosis With Renal Tubular Acidosis |
|
Failure to thrive, Cerebral calcification, Short stature, Recurrent fractures, Persistence of pri... |
ORPHA:2785 |
Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Brachydactyly |
OMIM:248300 |
Fgfr2-Related Bent Bone Dysplasia |
|
Overfolding of the superior helices, Natal tooth, Osteopenia, Hypoplastic ischia, Bowing of the l... |
ORPHA:313855 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Rib fusion |
OMIM:608681 |
Bdv Syndrome |
|
Micrognathia, Obesity, Delayed puberty, Atrial septal defect, Macrotia |
OMIM:619326 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Congenital diaphragmatic hernia, Mic... |
OMIM:601803 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Joint stiffness, Agenesis of corpus callosum, Absent septum pellucidum, Adducted thumb |
ORPHA:2182 |
Xfe Progeroid Syndrome |
|
Hypoalbuminemia, Defective DNA repair after ultraviolet radiation damage |
OMIM:610965 |
Cinca Syndrome |
|
Papilledema, Frontal bossing, Skin rash, Eosinophilia, Uveitis, Growth delay, Arthritis, Progress... |
OMIM:607115 |
Congenital Heart Block |
|
Pericardial effusion, Intrauterine growth retardation, Patent foramen ovale, Endocardial fibroela... |
ORPHA:60041 |
Thauvin-Robinet-Faivre Syndrome |
|
Midface retrusion, Inguinal hernia, Ventricular septal defect, Epicanthus, Bowing of the legs, La... |
OMIM:617107 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect, Mitral stenosis, Tetralog... |
ORPHA:2847 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Postaxial polydactyly, Aplastic clavicle, Congenital diaphragmatic ... |
OMIM:616546 |
Tetrasomy 9P |
|
Myositis, Micrognathia, Inappropriate behavior, Clinodactyly of the 5th finger, Pachygyria, Paten... |
ORPHA:3310 |
Noonan Syndrome 9 |
|
Short stature, Ventricular septal defect, Sparse eyebrow, Pulmonic stenosis, Downslanted palpebra... |
OMIM:616559 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology |
ORPHA:280195 |
Cerebrocostomandibular Syndrome |
|
Cerebral calcification, Ventricular septal defect, Hydranencephaly, Short stature, Micrognathia, ... |
ORPHA:1393 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Epicanthus, Posteriorly rotated ears, Single transverse palmar crease, Hearing impairment, Aggres... |
ORPHA:466950 |
Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Short phalanx of hallux, Short distal phalanx of the thumb, Aganglionic megacolon, Brachydactyly |
ORPHA:2150 |
Hartsfield Syndrome |
|
Syndactyly, Epicanthus, Posteriorly rotated ears, Craniosynostosis, Microcephaly, Growth delay, E... |
OMIM:615465 |
Ring Chromosome 13 Syndrome |
|
Aplasia/Hypoplasia of the thumb, Frontal bossing, Epicanthus, Posteriorly rotated ears, Micrognat... |
ORPHA:96176 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Facial palsy secondary to... |
OMIM:269500 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... |
OMIM:118100 |
Pycnodysostosis |
|
Frontal bossing, Increased bone mineral density, Short stature, Aplastic clavicle, Micrognathia, ... |
OMIM:265800 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Disproportionat... |
ORPHA:94068 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Arthrog... |
OMIM:607598 |
Coffin-Siris Syndrome 11 |
|
Agenesis of corpus callosum, Frontal bossing, Small hand, Uplifted earlobe |
OMIM:618779 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Abnormality of the anterior commissure, Agenesis of corpus callosum |
OMIM:617542 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... |
OMIM:619702 |
Holoprosencephaly 1 |
|
Short stature, Proboscis, Microcephaly, Cerebellar hypoplasia, Aplasia of the nose, Agenesis of c... |
OMIM:236100 |
Velocardiofacial Syndrome |
|
Inguinal hernia, Ventricular septal defect, Short stature, Abnormality of the hand, Microcephaly,... |
OMIM:192430 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Unilateral ptosis, Congenital diaphragmatic hernia, Coronary-pulmonary artery fistula, Micrognath... |
OMIM:619699 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Müllerian Aplasia And Hyperandrogenism |
|
Acne, Short stature, Synophrys, Obesity, Protruding ear, Cubitus valgus, Thick eyebrow, Brachydac... |
ORPHA:247768 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Cardiomegaly, Optic atrophy, Cerebellar malformation, Failure to thriv... |
ORPHA:137675 |
Meester-Loeys Syndrome |
|
Relative macrocephaly, Frontal bossing, Arachnodactyly, Short stature, Dolichocephaly, Mitral val... |
OMIM:300989 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Short middle phalanx of finger, Short stature, Brachydactyly |
ORPHA:1436 |
15q26 overgrowth syndrome |
|
Long toe, Mandibular prognathia, Arachnodactyly, Camptodactyly of finger, Abnormal pinna morpholo... |
DECIPHER:81 |
Achard Syndrome |
|
Joint laxity, Arachnodactyly, Micrognathia, Broad skull, Brachycephaly |
OMIM:100700 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Micrognathia, Bicuspid pulmonary valve, Atrial septal defect, Joint laxity... |
OMIM:610168 |
Fanconi Anemia, Complementation Group E |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Chromosomal breakage i... |
OMIM:600901 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Joint stiffness, Micrognathia, Brachycephaly, Wide nasal bridge,... |
ORPHA:2062 |
Rin2 Syndrome |
|
Increased susceptibility to fractures, Upper eyelid edema, Umbilical hernia, Downslanted palpebra... |
ORPHA:217335 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Small hand, Abnormal rib morphology, Short foot, Thickened cortex of long bones, Broa... |
ORPHA:488434 |
Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... |
OMIM:212093 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Joint laxity, Ventricular septal defect, Cardiomegaly, Micrognathia, Postnatal growth retardation... |
ORPHA:96191 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Tubulointerstitial nephritis, Hypertrophic cardiomyopathy, Failure to thrive, Patent foramen ovale |
OMIM:614582 |
Double Outlet Right Ventricle |
|
Failure to thrive, Ventricular septal defect, Short stature, Abnormality of cartilage of external... |
ORPHA:3426 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Ebstein anomaly of the tricuspid valve, Abnormal cardiac septum ... |
ORPHA:1880 |
Mucopolysaccharidosis, Type X |
|
Spatulate ribs, Broad clavicles, Genu valgum, Hip dysplasia, Broad ribs, Irregular acetabular roof |
OMIM:619698 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Neonatal death, Atrial septal defect, Absent eyebrow, Short stature, Absent eyelashes, Erythroder... |
OMIM:308205 |
Sotos Syndrome |
|
Cerebellar vermis hypoplasia, Tremor, No permanent dentition, Flexion contracture, Increased head... |
ORPHA:821 |
Xeroderma Pigmentosum, Complementation Group E |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278740 |
Fanconi Anemia, Complementation Group A |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Chromosomal breakage i... |
OMIM:227650 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Micrognathia, Aplastic clavicle, Elbow dislocation, Pa... |
ORPHA:2554 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Mixed hearing impairment, Short femur, Short stature, Micrognathia, Co... |
OMIM:300990 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Absent lacrimal punctum, Ventricular septal defect,... |
ORPHA:1071 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Short stature, Posteriorly rotated ears, Microc... |
OMIM:617330 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the thumb, Small for gestational age, Abnormal pinna morph... |
ORPHA:556955 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Triphalangeal thumb, Atrial septal defect, 2-4 finger syndactyly, 2-3 toe synda... |
OMIM:107480 |
Larsen Syndrome |
|
Finger syndactyly, Short stature, Craniosynostosis, Accessory carpal bones, Joint hyperflexibilit... |
ORPHA:503 |
Relapsing Polychondritis |
|
Abnormal endocardium morphology, Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myoc... |
ORPHA:728 |
Humeroradial Synostosis |
|
Humeroradial synostosis, Brachycephaly, Wide nasal bridge, Microtia, Small earlobe |
OMIM:236400 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Inguinal hernia, Cong... |
OMIM:600001 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Missing ribs, Pectus excavatum, Short thorax, Rib fusion, Bell... |
OMIM:613686 |
Ciliary Dyskinesia, Primary, 30 |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent otitis... |
OMIM:616037 |
Syndromic Diarrhea |
|
Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Gastritis, Small for gestation... |
ORPHA:84064 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venou... |
OMIM:608978 |
Diets-Jongmans Syndrome |
|
Inguinal hernia, Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, Aggre... |
OMIM:618846 |
Alagille Syndrome 2 |
|
Atrial septal defect, Tetralogy of Fallot, Long nose, Pulmonic stenosis |
OMIM:610205 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Micrognathia, Flexion contracture, Knee flexion contracture, Camptod... |
OMIM:265000 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Micrognathia, Paroxysmal bursts of laughter, Hyperactivity, Short stature, Tapered finger, Obesit... |
OMIM:309580 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
Limb Body Wall Complex |
|
Ventral hernia, Atrial septal defect, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia... |
ORPHA:2369 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Long fibula, Short palm, Condu... |
ORPHA:2502 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Ventricular septal defect, Choreoathetosis, Dystonia, Atrial septal defect, Cholesteatoma |
OMIM:610978 |
Brachydactyly, Type E1 |
|
Short metacarpal, Moderately short stature, Short metatarsal, Short clavicles, Multiple impacted ... |
OMIM:113300 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Multiple joint contractures, Hair-pulling, Synophrys, Wide nasal bridge, Dysphagia... |
ORPHA:447997 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Shoulder flexion c... |
OMIM:620369 |
Xeroderma Pigmentosum, Complementation Group C |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278720 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Flat occiput, Micrognathia, Protruding ear, Periodontitis, Compulsive beha... |
ORPHA:534 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Joint stiffness, Split hand, Abnormal rib morpho... |
ORPHA:1300 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... |
OMIM:612098 |
Meckel Syndrome, Type 7 |
|
Inguinal hernia, Situs inversus totalis, Postaxial foot polydactyly, Atrial septal defect, Aortic... |
OMIM:267010 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Atrial septal defect, Patent foramen ovale, Part... |
ORPHA:1686 |
Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:113400 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Microcephaly, Attention deficit hyperactivity disorder, Dystonia, Abnormal perive... |
OMIM:619725 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Abnormal repetitive mannerisms, Agitation, Microcephaly |
ORPHA:927 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Epicanthus, Posteriorly rotated ears, Single transverse palmar crease, Aggressive behavior, Senso... |
ORPHA:466943 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Skin rash, Abnormal dental enamel morphology, Campt... |
ORPHA:464 |
Ebstein Anomaly |
|
Atrial septal defect, Ebstein anomaly of the tricuspid valve |
OMIM:224700 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Small abnormally for... |
ORPHA:140 |
Whipple Disease |
|
Pericarditis, Myositis, Cachexia, Anorexia, Myocarditis, Uveitis, Arthritis, Polydipsia, Infectio... |
ORPHA:3452 |
Aica-Ribosiduria |
|
Brachycephaly, Low-set ears |
ORPHA:250977 |
Bilateral Perisylvian Polymicrogyria |
|
EEG with polyspike wave complexes, EEG with parietal focal spikes, Cerebellar vermis hypoplasia, ... |
ORPHA:98889 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Skeletal muscle atrophy, Abnormal repetitive mannerisms, Disinhibition, Dysphagia |
OMIM:612069 |
Xeroderma Pigmentosum, Complementation Group A |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278700 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micrognathia, Pectus excavatum, Limitation of joint m... |
ORPHA:2990 |
Aspergillosis |
|
Abnormal long bone morphology, Osteomyelitis, Abnormal rib morphology |
ORPHA:1163 |
Lymphangiectasia, Intestinal |
|
Prominent floating ribs |
OMIM:152800 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Telecanthus, Micrognathia, Adactyly, Split hand, Aplasia/Hypopl... |
ORPHA:989 |
Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap... |
OMIM:617247 |
Loeys-Dietz Syndrome 1 |
|
Joint laxity, Arachnodactyly, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, ... |
OMIM:609192 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:610338 |
Scimitar Syndrome |
|
Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaphragm morphology, Parti... |
ORPHA:185 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronchiectasis, Uveitis, Th... |
OMIM:614700 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Telecanthus, Ectropion, Lipodystrophy, Sparse e... |
OMIM:209885 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Dense calvaria, Joint stiffness |
OMIM:252920 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Sensorineural hearing impairment, Cerebellar vermis hypoplasia, Midface ret... |
OMIM:602482 |
Bardet-Biedl Syndrome 3 |
|
Obesity, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormal pelvic girdle bone morphology, Missing ribs, Abnormal rib morphology, Micrognathia |
ORPHA:1834 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Myositis, Fasciitis, Skin rash, Orchitis, Abnormal sacroiliac joint morphology, Per... |
ORPHA:32960 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Ventricular septal defect, Small for gestational age, Pericardial effusion, Intraute... |
OMIM:618775 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Small for gestational... |
ORPHA:2255 |
Xeroderma Pigmentosum, Complementation Group D |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278730 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Epicanthus, Short stature, Postaxial polydactyly, Postaxial hand polydactyly, Supernumerary tooth... |
OMIM:617088 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Posteriorly rotated ears, Ebstein anomaly of the tricuspid valve, Brachycephaly, Low-set ears, Ov... |
OMIM:608980 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... |
OMIM:228900 |
Methimazole Embryofetopathy |
|
Intrauterine growth retardation, Ventricular septal defect, Calvarial skull defect |
ORPHA:1923 |
Localized Scleroderma |
|
Skeletal muscle atrophy, Fasciitis, Flexion contracture, Dental malocclusion, Uveitis, Upper limb... |
ORPHA:90289 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Brachycephaly, Femoral bowing, Conductive hearing impairment, Simple ear, Cloverleaf skull, Arach... |
OMIM:201750 |
Vater/Vacterl Association |
|
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ... |
OMIM:192350 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, Aortic valve stenosis,... |
ORPHA:210122 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Cystinosis |
|
Short stature, Rickets, Myopathy, Delayed puberty, Polydipsia, Failure to thrive, Abnormal repeti... |
ORPHA:213 |
Hirschsprung Disease With Type D Brachydactyly |
|
Short thumb, Aganglionic megacolon, Type D brachydactyly |
OMIM:306980 |
Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Joint stiffness, Hypoplasia of the odontoid process, Metaphyseal widening, ... |
OMIM:253200 |
Diamond-Blackfan Anemia 10 |
|
Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragmatic... |
OMIM:613309 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Dense calvaria, Joint stiffness |
OMIM:252900 |
Bloom Syndrome |
|
Skin rash, Pneumonia, Small for gestational age, Micrognathia, Sparse eyelashes, Adipose tissue l... |
ORPHA:125 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Frontal bossing, Epicanthus, Micromelia, Micrognathia, Preaxial hand polydactyly, Ab... |
ORPHA:93271 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Joint hypermobility, Thin ribs |
ORPHA:456328 |
Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Short stature, Cardiomegaly, Micrognathia, Dilated cardiomyopathy, Rha... |
OMIM:614921 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Psoriasiform dermatitis, Ventricular septal defect, Enterocolitis, Interface hepatit... |
OMIM:243150 |
Craniofacial Microsomia 1 |
|
Micrognathia, Hypoplasia of the maxilla, Anotia, Limbal dermoid, Conductive hearing impairment, D... |
OMIM:164210 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Microretrognathia, Optic neuropathy, Microcephaly, Sensorineural hearing impairment, Clinodactyly... |
OMIM:620237 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Micrognathia, 2-3 toe cutaneous syndactyly, Hand tremor, Protruding ear, Hippocampal a... |
OMIM:614756 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Short stature, Pneumonia, Limited elbow movement, Limited wrist movement, W... |
OMIM:617809 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Uveitis, Arthritis, Conjunctivitis, Hearing impairment |
OMIM:120100 |
Serkal Syndrome |
|
Growth delay, Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis |
ORPHA:139466 |
Bardet-Biedl Syndrome 20 |
|
Papilledema, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Obesity, Atri... |
OMIM:619471 |
Proboscis Lateralis |
|
Ptosis, Aplasia/Hypoplasia of the maxilla, Abnormal eyebrow morphology, Ventricular septal defect... |
ORPHA:141099 |
De Sanctis-Cacchione Syndrome |
|
Bilateral cryptorchidism, Defective DNA repair after ultraviolet radiation damage |
OMIM:278800 |
Nocardiosis |
|
Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Anorexia, Keratitis, Lym... |
ORPHA:31204 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
Esophageal Atresia |
|
Omphalocele, Small for gestational age, Ventricular septal defect, Failure to thrive in infancy, ... |
ORPHA:1199 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Severe short stature, Bowing of the legs, Delayed epiphyseal ossification, Metaphys... |
ORPHA:93352 |
Vacterl/Vater Association |
|
Finger syndactyly, Preaxial hand polydactyly, Abnormal rib morphology, Aplasia/Hypoplasia of the ... |
ORPHA:887 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Athetosis, Polydipsia, Tinnitus |
ORPHA:369929 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Overlapping toe, Microcephaly, Hiatus hernia, Reduced bone mineral den... |
OMIM:616682 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Ventricular septal defect, Limited hip extension, Flexion contracture, Corneal scarring, Growth d... |
OMIM:614653 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the hand, Supernumerary tooth, Short 5th metacarpal, Brachydactyly |
ORPHA:1264 |
Chitayat Syndrome |
|
Hallux valgus, Short stature, Tracheomalacia, Brachydactyly |
OMIM:617180 |
Grange Syndrome |
|
Syndactyly, Bicuspid aortic valve, Recurrent fractures, Increased susceptibility to fractures, Fi... |
OMIM:602531 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Camptodactyly of finger, Limitation of joint mobility, Abnormality ... |
ORPHA:93473 |
Perlman Syndrome |
|
Congenital diaphragmatic hernia, Large for gestational age, Micrognathia, Hypoplasia of the abdom... |
OMIM:267000 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Reduced... |
ORPHA:667 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Coxa vara, Tibial bowing, Protruding ear, Reduced bone mineral density, Hypoplastic iliac wing, A... |
ORPHA:93315 |
Woolly Hair Nevus |
|
Enlarged vestibular aqueduct, Brachydactyly |
ORPHA:79414 |
Acute Bilirubin Encephalopathy |
|
Conjunctival icterus, Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Conjunctival icterus, Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal... |
ORPHA:529808 |
Hijazi-Reis Syndrome |
|
Postnatal growth retardation, Abnormal repetitive mannerisms |
OMIM:301094 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Micrognathia, Atrial septal defect, Patent foramen ovale, Joint ... |
OMIM:619991 |
Lymphatic Malformation 6 |
|
Epicanthus, Short stature, Abnormal pinna morphology, Micrognathia, Cupped ear, Cellulitis, Atria... |
OMIM:616843 |
Heterotaxy, Visceral, 5, Autosomal |
|
Cerebellar atrophy, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Partial anom... |
OMIM:270100 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U... |
ORPHA:727 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Camptodactyly of finger, Eczema, Erythema nodosum, Uveiti... |
OMIM:186580 |
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Telecanthus, Short distal phalanx of finger, Brachytelomesophalangy |
ORPHA:1547 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Cortical dysplasia, EEG abnormality, Attention deficit hypera... |
OMIM:610042 |
Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Large for gestational age, Thin ribs |
ORPHA:169189 |
Cowden Syndrome |
|
Short stature, Hearing impairment, Abnormal cerebellum morphology, Bone cyst, Macroglossia, Palmo... |
ORPHA:201 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, Ventricular septal defect, Optic nerve hypoplasia, Micrognathia, 2-3 toe synda... |
OMIM:620025 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Failure to thrive, Frontal bossing, Ventricular septal defect, Long nose,... |
OMIM:118450 |
Congenital Tracheomalacia |
|
Failure to thrive, Ventricular septal defect, Pneumonia, Tracheomalacia, Cardiomegaly, Partial an... |
ORPHA:95430 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Intracerebral periventricular calcifications, Short stature, Microcephaly, Postnatal growth retar... |
ORPHA:168577 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Hardikar Syndrome |
|
Ventricular septal defect, Cholangitis, Short stature, Lacrimal duct stenosis, Partial anomalous ... |
OMIM:301068 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Cong... |
OMIM:618280 |
Lowe Oculocerebrorenal Syndrome |
|
Short stature, Camptodactyly of finger, Osteomalacia, Aggressive behavior, Postnatal growth retar... |
OMIM:309000 |
Lymphedema-Distichiasis Syndrome |
|
Ectropion, Ventricular septal defect, Micrognathia, Distichiasis, Conjunctivitis, Cellulitis, Tet... |
OMIM:153400 |
Holoprosencephaly 9 |
|
Short stature, Hypoplasia of the premaxilla, Optic nerve hypoplasia, Abnormal cortical gyration, ... |
OMIM:610829 |
Shigellosis |
|
Failure to thrive in infancy, Pneumonia, Anorexia, Myocarditis, Peritonitis, Rhabdomyolysis, Uvei... |
ORPHA:810 |
Developmental And Epileptic Encephalopathy 2 |
|
Tapered finger, Small hand, Hypsarrhythmia, Short foot, Abnormal repetitive mannerisms, Progressi... |
OMIM:300672 |
Isolated Exencephaly |
|
Abnormal calvaria morphology, Low-set ears, Aplasia/Hypoplasia of the cerebellum, Agenesis of cor... |
ORPHA:563612 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Dense calvaria, Joint stiffness |
OMIM:252930 |
Holoprosencephaly 2 |
|
Aplasia of the premaxilla, Proboscis, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus cal... |
OMIM:157170 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Knee osteoarthritis, Oligoarthritis, Uveitis, Severe postnatal growth retardation, Rheumatoid art... |
ORPHA:85410 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Short stature, Brachydactyly |
OMIM:613819 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Anterior uveitis, Abnormality of the temporomandibular joint, Psoriasiform der... |
ORPHA:85436 |
Johanson-Blizzard Syndrome |
|
Joint laxity, Atrial septal defect, Absent lacrimal punctum, Ventricular septal defect, Small for... |
OMIM:243800 |
Monosomy 9Q22.3 |
|
Large for gestational age, Palmar pits, Pectus excavatum, Abnormal rib morphology, Joint hyperfle... |
ORPHA:77301 |
Acrodysplasia Scoliosis |
|
Brachydactyly |
ORPHA:2956 |
Corneodermatoosseous Syndrome |
|
Severe short stature, Abnormal dental enamel morphology, Hearing impairment, Abnormality of the h... |
ORPHA:3194 |
Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Brachydactyly, Weakness of facial musculature, Joint hypermobility, Ptosis |
OMIM:223360 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Thyroiditis, Uveitis, Palmoplantar hyperkeratosis, Growth delay, Keratoconjunc... |
OMIM:617388 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Athetosis, Left ventricular hypertrophy, Pa... |
OMIM:615474 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Anomalous pulmonary venous return, Conotruncal... |
ORPHA:3097 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Optic neuropathy, Tremor, Rhabdomyolysis, Dilated cardiomyopathy, Concentric hypertrophic cardiom... |
OMIM:610505 |
Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Obesity, Brachydactyly |
OMIM:603233 |
Gm1-Gangliosidosis, Type I |
|
Hypoplastic vertebral bodies, Intrauterine growth retardation, Thickened ribs, Joint stiffness |
OMIM:230500 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis, Overlapping toe, Tarsal synostosis, Brachydactyly |
OMIM:617898 |
Sarcoidosis, Susceptibility To, 1 |
|
Optic neuropathy, Anorexia, Pericardial effusion, Iridocyclitis, Bone cyst, Clubbing, Bronchiecta... |
OMIM:181000 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Ventricular septal defect, Short stature, Recurrent fractures, Microcephaly, Metaphys... |
OMIM:259770 |
You-Hoover-Fong Syndrome |
|
Brachydactyly, Microcephaly, Clinodactyly, Paroxysmal bursts of laughter, Hearing impairment |
OMIM:616954 |
Loeys-Dietz Syndrome 3 |
|
Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Atrial septal defect, Joint laxity, A... |
OMIM:613795 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Agenesis of cerebellar vermis, Absent septum pellucidum, Type II lissencephaly, Cortical dysplasi... |
OMIM:615287 |
Myotubular Myopathy With Abnormal Genital Development |
|
Joint hypermobility, Thin ribs |
OMIM:300219 |
Sarcoidosis, Susceptibility To, 2 |
|
Facial palsy, Erythema nodosum, Clubbing, Bronchiectasis, Uveitis |
OMIM:612387 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Epicanthus, Microcephaly, Aggressive behavior, Hair-pulling, Cerebral atrophy, Self-injurious beh... |
OMIM:616393 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Joint stiffness, Achilles tendon contra... |
OMIM:252940 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Missing ribs, Rib fusion, Thin ribs, Short ribs |
OMIM:271520 |
Phace Association |
|
Ventricular septal defect, Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Cerebellar hyp... |
OMIM:606519 |
Diamond-Blackfan Anemia 5 |
|
Low-set ears, Ventricular septal defect, Short stature |
OMIM:612528 |
Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Inflammatory abnormality of the skin, Short stature, Eczema, Bronchiectasis, Hepatiti... |
ORPHA:391487 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Osteoporosis, Reduced bone mineral density, Delayed puberty, Failure to thrive, Agenesis of corpu... |
ORPHA:168558 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Palmoplantar hyperkeratosis,... |
ORPHA:2907 |
Orotic Aciduria |
|
Atrial septal defect, Failure to thrive, Ventricular septal defect |
OMIM:258900 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Osteoporosis, Reduced bone mineral density, Delayed puberty, Failure to thrive, Agenesis of corpu... |
ORPHA:289548 |
Autism, Susceptibility To, 3 |
|
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... |
OMIM:608049 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Abnormal clavicle morphology, Joint stiffness, Avascular necrosis of t... |
ORPHA:581 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect, Triphalangeal thumb |
OMIM:615550 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Distichiasis, Ventricular septal defect |
OMIM:126320 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Patent foramen ovale, Hypsarrhythmia |
ORPHA:542306 |
Absence Of The Pulmonary Artery |
|
Abnormal hemidiaphragm morphology, Cardiomegaly, Recurrent pneumonia, Bronchiectasis, Abnormal he... |
ORPHA:980 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Overlapping fingers, Overlapping toe, Failure to thrive in infancy,... |
ORPHA:798 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Small for gestational age, Dilated cardiomyopathy,... |
OMIM:619573 |
Aspartylglucosaminuria |
|
Joint laxity, Short stature, Acne, Microcephaly, Brachycephaly, Cerebral atrophy, Macroglossia, H... |
OMIM:208400 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Multiple rib fractures, Femur fracture, Osteopetrosis |
OMIM:612301 |
Digeorge Syndrome |
|
Inguinal hernia, Ventricular septal defect, Acne, Short stature, Micrognathia, Seborrheic dermati... |
OMIM:188400 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Increased theta frequency activity in EEG, EEG with focal spikes, Attention ... |
ORPHA:98784 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Brachydactyly, Cachexia, Sensorineural hearing impairment, Short palm, Ptosis |
ORPHA:3217 |
Common Variable Immunodeficiency |
|
Failure to thrive in infancy, Pneumonia, Bronchiectasis, Brachycephaly, Otitis media, Chronic oti... |
ORPHA:1572 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Ventricular septal defect, Low-set ears, Micrognathia |
OMIM:618021 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Low-set ears, Intrauterine growth retardation, Ventricular septal defect, Congenital diaphragmati... |
OMIM:611812 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Pontine Tegmental Cap Dysplasia |
|
Failure to thrive, Rib fusion |
OMIM:614688 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Absent eyebrow, Psoriasiform dermatitis, Ventricular septal defect, Hepatitis, Intra... |
ORPHA:436252 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Palmopl... |
ORPHA:2908 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Elongated su... |
OMIM:610688 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Osteop... |
OMIM:225400 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Diastasis recti, Unilateral hypoplasia of pectoralis major muscle, Craniosynostosis, ... |
ORPHA:1521 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Short stature, Aggressive behavior, Sensorineural hearing impairment, Polyphagia, Obesity, Self-i... |
ORPHA:293987 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Atrial septal defect, Situs inversus totalis, Neonatal death, Aortic valve stenosis, Dandy-Walker... |
OMIM:208540 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Maculopapular exanthema, Eosinophilia, Short stature, Microcephaly, Ke... |
OMIM:308300 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Septo-optic dysplasia, Pituitary dwarfism, Absent septum pellucidum, Optic nerve hypo... |
ORPHA:95494 |
Dextrocardia |
|
Congenital hip dislocation, Abnormal rib morphology |
ORPHA:1666 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Postaxial polydactyly |
OMIM:219730 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Failure to thrive, Membranoproliferative glomerulonephritis, Ventricular septal defect, Inguinal ... |
OMIM:619525 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Macrotia, Split hand, Clubbing, Growth delay, Low-set ears, Hypoplasti... |
OMIM:600460 |
Lymphatic Malformation 7 |
|
Pericardial effusion, Atrial septal defect |
OMIM:617300 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Atrial septal defect, Periventricular white matter hyperintensities |
OMIM:613834 |
Hydroxykynureninuria |
|
Stomatitis, Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms |
ORPHA:79155 |
Lyme Disease |
|
Arthritis, Infectious encephalitis, Uveitis |
ORPHA:91546 |
Lymphatic Malformation 13 |
|
Neonatal death, Atrial septal defect, Patent foramen ovale, Unilateral deafness |
OMIM:620244 |
Lymphoproliferative Syndrome 2 |
|
Recurrent pneumonia, EBV encephalitis, Uveitis |
OMIM:615122 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Failure to thrive, Ventricular septal defect, Aortopulmonary window, Hypoplastic left heart, Tran... |
ORPHA:99050 |
Generalized Pustular Psoriasis |
|
Pustule, Overweight, Cheilitis, Uveitis, Obesity, Arthritis, Palmoplantar pustulosis, Erythroderma |
ORPHA:247353 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Recurrent bacterial skin infections, Erythrodontia, Scarring, Scarring alopecia of sc... |
ORPHA:95159 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... |
OMIM:617205 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspi... |
ORPHA:3427 |
Aortic Valve Disease 2 |
|
Patent foramen ovale, Aortic valve stenosis, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:614823 |
Mismatch Repair Cancer Syndrome 1 |
|
Agenesis of corpus callosum, Rhabdomyosarcoma |
OMIM:276300 |
Weill-Marchesani Syndrome 4 |
|
Joint stiffness, Short stature, Brachydactyly |
OMIM:613195 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Recurrent... |
OMIM:615067 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
Coccidioidomycosis |
|
Osteomyelitis, Osteolysis, Abnormal long bone morphology, Arthritis, Abnormal metacarpal morpholo... |
ORPHA:228123 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Recurrent bacterial skin infections, Erythrodontia, Scarring, Increased connective ti... |
ORPHA:79277 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint m... |
ORPHA:217085 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Osteoporosis, Thyroiditis, Ulcerative colitis, Hepati... |
ORPHA:171 |
Eisenmenger Syndrome |
|
Ventricular septal defect, Clubbing, Aortopulmonary window, Abnormal heart morphology, Bacterial ... |
ORPHA:97214 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Aortic valve atresia, Double outlet right ventr... |
ORPHA:2299 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint m... |
ORPHA:217093 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Conjunctivitis, Chronic otitis media |
OMIM:608710 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Uveitis |
OMIM:193235 |
Marburg Hemorrhagic Fever |
|
Pericarditis, Skin rash, Maculopapular exanthema, Anorexia, Aggressive behavior, Orchitis, Uveiti... |
ORPHA:99826 |
Cutis Laxa, Autosomal Dominant 1 |
|
Uterine prolapse, Inguinal hernia, Ventricular septal defect, Bronchiectasis |
OMIM:123700 |
Niemann-Pick Disease, Type C2 |
|
Neurofibrillary tangles, Abnormal repetitive mannerisms, Dysphagia, Dystonia |
OMIM:607625 |
Norrie Disease |
|
Cachexia, Microcephaly, Macrotia, Sensorineural hearing impairment, Optic atrophy, Protruding ear... |
ORPHA:649 |
Diphallia |
|
Inguinal hernia, Absent thumb, Abnormal heart morphology, Atrial septal defect, Abnormal pubic bo... |
ORPHA:227 |
Penile Agenesis |
|
Ventricular septal defect, Posteriorly rotated ears, Bilateral talipes equinovarus, Atrial septal... |
ORPHA:49 |
Cogan Syndrome |
|
Episcleritis, Keratitis, Sensorineural hearing impairment, Uveitis, Scleritis, Conjunctivitis, In... |
ORPHA:1467 |
Sarcoidosis |
|
Maculopapular exanthema, Facial palsy, Eosinophilia, Scarring, Erythema nodosum, Dacryocystitis, ... |
ORPHA:797 |
Leprosy |
|
Skeletal muscle atrophy, Autoamputation of digits, Absent eyebrow, Abnormality of the seventh cra... |
ORPHA:548 |
Autoimmune Lymphoproliferative Syndrome |
|
Gastritis, Glomerulonephritis, Eosinophilia, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis,... |
ORPHA:3261 |
Renal Agenesis |
|
Ventricular septal defect, Talipes equinovarus |
ORPHA:411709 |
Leptospirosis |
|
Papilledema, Pericarditis, Skin rash, Anorexia, Rhabdomyolysis, Hepatitis, Uveitis, Optic neuriti... |
ORPHA:509 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Su... |
ORPHA:99125 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Nongranulomatous uveitis, Anterior uveitis, Papilledema, Skin rash, Anorexia, Intermediate uveiti... |
ORPHA:91500 |
Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Oculogyric crisis, Orthostatic tachycardia, Hypersexuality, EEG with tem... |
ORPHA:217253 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Growth delay, Patent foramen ovale |
OMIM:225250 |
Rift Valley Fever |
|
Skin rash, Anorexia, Hepatitis, Uveitis, Infectious encephalitis |
ORPHA:319251 |
Pagod Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:991 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Hypoplastic left heart, Abnormal earlobe morphology |
ORPHA:141127 |
Juvenile Xanthogranuloma |
|
Iritis, Blepharitis, Uveitis |
ORPHA:158000 |
Pauci-Immune Glomerulonephritis |
|
Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Arter... |
ORPHA:93126 |
Amoebic Keratitis |
|
Scleritis, Anterior uveitis |
ORPHA:67043 |
Antiphospholipid Syndrome, Familial |
|
Keratitis, Scleritis, Iritis |
OMIM:107320 |
Retinoblastoma |
|
Rhabdomyosarcoma, Cellulitis, Uveitis, Leiomyosarcoma |
ORPHA:790 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Uveitis |
OMIM:221900 |
Homozygous Familial Hypercholesterolemia |
|
Abnormal tendon morphology, Tendon xanthomatosis, Optic neuropathy, Myocardial steatosis |
ORPHA:391665 |