| Microcephaly 28, Primary, Autosomal Recessive |
|
Microcephaly |
OMIM:619453 |
| Cri du Chat Syndrome (5p deletion) |
|
Microcephaly |
DECIPHER:2 |
| Intellectual Developmental Disorder, Autosomal Recessive 51 |
|
Microcephaly |
OMIM:616739 |
| 1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders) |
|
Microcephaly |
DECIPHER:62 |
| Intellectual Developmental Disorder, Autosomal Recessive 28 |
|
Microcephaly |
OMIM:614347 |
| Intellectual Developmental Disorder, Autosomal Recessive 7 |
|
Microcephaly |
OMIM:611093 |
| Microcephaly 18, Primary, Autosomal Dominant |
|
Microcephaly |
OMIM:617520 |
| Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus) |
|
Microcephaly |
DECIPHER:92 |
| Teratocarcinoma-Derived growth factor 1 |
|
Microcephaly, Absent septum pellucidum, Hypoplasia of the corpus callosum |
OMIM:187395 |
| Intellectual Developmental Disorder, Autosomal Recessive 24 |
|
Microcephaly |
OMIM:614345 |
| Arachnoid Cysts, Intracranial |
|
Microcephaly, Macrocephaly |
OMIM:207790 |
| Microcephaly 7, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Microcephaly |
OMIM:612703 |
| Microcephaly 12, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Microcephaly |
OMIM:616080 |
| Microcephaly 23, Primary, Autosomal Recessive |
|
Microcephaly |
OMIM:617985 |
| Triglyceride Storage Disease, Type I |
|
Microcephaly |
OMIM:190420 |
| Encephalomalacia, Multilocular |
|
Encephalomalacia, Microcephaly |
OMIM:225700 |
| Seckel Syndrome 6 |
|
Microcephaly |
OMIM:614728 |
| Microcephaly 11, Primary, Autosomal Recessive |
|
Microcephaly |
OMIM:615414 |
| Microcephaly 21, Primary, Autosomal Recessive |
|
Microcephaly |
OMIM:617983 |
| Pontocerebellar Hypoplasia, Type 5 |
|
Microcephaly, Olivopontocerebellar hypoplasia |
OMIM:610204 |
| Microcephaly 24, Primary, Autosomal Recessive |
|
Cerebellar vermis hypoplasia, Microcephaly |
OMIM:618179 |
| Spinal Muscular Atrophy With Microcephaly And Mental Subnormality |
|
Microcephaly |
OMIM:271110 |
| Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Microcephaly |
OMIM:616460 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Dihydropteridine Reductase Deficiency |
|
Microcephaly |
ORPHA:226 |
| Microcephaly 8, Primary, Autosomal Recessive |
|
Microcephaly |
OMIM:614673 |
| Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
| Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... |
OMIM:186000 |
| Polydactyly, Preaxial Ii |
|
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... |
OMIM:174500 |
| Meckel Syndrome, Type 8 |
|
Talipes equinovarus, Microcephaly, Short neck, Anophthalmia, Polydactyly, Postaxial hand polydact... |
OMIM:613885 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormality of the neck, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly, Polydac... |
ORPHA:294975 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Abnormal palm... |
ORPHA:3246 |
| Jawad Syndrome |
|
Postaxial polydactyly, Retrognathia, Single interphalangeal crease of fifth finger, Absent fourth... |
OMIM:251255 |
| Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... |
ORPHA:1891 |
| Microphthalmia With Limb Anomalies |
|
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Retrognathia, Camptodactyly of 2nd-5th fin... |
OMIM:206920 |
| Syndactyly, Type Iii |
|
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
| Syndactyly Type 1 |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly |
ORPHA:93402 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Microcephaly, Syndactyly |
OMIM:271109 |
| Syndactyly, Type Iv |
|
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... |
OMIM:186200 |
| Acrocephalopolysyndactyly Type Iv |
|
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... |
OMIM:201020 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly |
OMIM:234280 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
| Hydrolethalus |
|
Absent septum pellucidum, Retrognathia, Micrognathia, Abnormality of the sense of smell, Anenceph... |
ORPHA:2189 |
| Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
| Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microcephaly, Anophthalmia, Inferior cerebellar vermis hypoplasia, Iris coloboma, Postaxial foot ... |
ORPHA:139471 |
| Crossed Polysyndactyly |
|
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly |
ORPHA:2935 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Macrocephaly, Spindle-shaped finger, Cerebral atrophy, Cutaneous... |
ORPHA:166024 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Microcephaly, Radioulnar synostosis, Abnormality of the elbow, Fi... |
ORPHA:3268 |
| 15Q11Q13 Microduplication Syndrome |
|
Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Microcephaly, Tapered finger, Camptodactyly, Single transverse palmar crease, Branchial cyst, Man... |
ORPHA:435938 |
| Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Congenital hip dislocation, Anophthalmia, Hypoplasia of the corpus callosu... |
OMIM:164180 |
| Lambert Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Malar flattening, Branchial anomaly |
ORPHA:1296 |
| Orofaciodigital Syndrome Vi |
|
Mesoaxial hand polydactyly, Postaxial polydactyly, Hypothalamic hamartoma, Micrognathia, Brachyda... |
OMIM:277170 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615983 |
| Fibular Hemimelia |
|
Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Disproport... |
ORPHA:93323 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
| Frontonasal Dysplasia 1 |
|
Joint contracture of the hand, Brachydactyly, Coloboma, Postaxial hand polydactyly, Camptodactyly... |
OMIM:136760 |
| Trisomy 1Q |
|
Macrocephaly, Microretrognathia, Arachnodactyly, Camptodactyly of finger, Anophthalmia, Agenesis ... |
ORPHA:261344 |
| Microphthalmia, Syndromic 12 |
|
Retrognathia, Micrognathia, Anophthalmia, Microphthalmia |
OMIM:615524 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Trisomy 13 |
|
Ectrodactyly, Malar flattening, Bilateral single transverse palmar creases, Anophthalmia, Postaxi... |
ORPHA:3378 |
| Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hypoplasia of the brainstem, Clinodactyly of the 5th finger, Microretrognathia, Talipes equinovar... |
OMIM:236500 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Iris coloboma, Microphthalmia, Anophthalmia, Chorioretinal coloboma |
OMIM:616428 |
| Brachydactyly, Type B1 |
|
Wide anterior fontanel, Joint contracture of the hand, Cutaneous finger syndactyly, Syndactyly, A... |
OMIM:113000 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorioretinal coloboma |
OMIM:611638 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Micrognathia, Anophthalmia, Microphthalmia |
OMIM:221950 |
| Rubinstein-Taybi Syndrome 2 |
|
Dental malocclusion, Retrognathia, Micrognathia, Microcephaly, Syndactyly, Carious teeth, Broad h... |
OMIM:613684 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Syndactyly Type 3 |
|
Short toe, Finger syndactyly, Camptodactyly of finger |
ORPHA:93404 |
| Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Malar flattening, Postaxial polydactyly, Polydactyly, Clinodactyly |
OMIM:615984 |
| Bardet-Biedl Syndrome 12 |
|
Polydactyly |
OMIM:615989 |
| Microphthalmia With Limb Anomalies |
|
True anophthalmia, Abnormality of the upper limb, Hypoplasia of the maxilla, Sandal gap, Bowing o... |
ORPHA:1106 |
| Wahab Syndrome |
|
Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal... |
OMIM:615170 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Microcephaly, Syndactyly, 2-4 toe syndactyly |
OMIM:241000 |
| Syndactyly Type 5 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... |
ORPHA:93406 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Microcephaly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous f... |
OMIM:600384 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short distal phalanx of finger, Trismus |
OMIM:609166 |
| Aminopterin Syndrome Sine Aminopterin |
|
Macrocephaly, Joint contracture of the hand, Arachnodactyly, Micrognathia, Microcephaly, Brachyda... |
OMIM:600325 |
| Monosomy 5P |
|
Microretrognathia, Small hand, Microcephaly, Short neck, Finger syndactyly |
ORPHA:281 |
| Greig Cephalopolysyndactyly Syndrome |
|
Macrocephaly, Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand polydactyly, Broad ... |
ORPHA:380 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly, Coloboma |
OMIM:613094 |
| Santos Syndrome |
|
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... |
OMIM:613005 |
| Walker-Warburg Syndrome |
|
Macrocephaly, Absent septum pellucidum, Macrogyria, Microcephaly, Anophthalmia, Cerebellar hypopl... |
ORPHA:899 |
| Anophthalmia Plus Syndrome |
|
Iris coloboma, Spina bifida, Anophthalmia, Deviation of finger |
ORPHA:1104 |
| Holoprosencephaly |
|
Macrocephaly, Short neck, Aplasia/Hypoplasia of the cerebellum, Microphthalmia, Encephalocele, Hy... |
ORPHA:2162 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Brachydactyly, Coloboma, Iris coloboma, Clinodactyly, Microphthalmia |
OMIM:610023 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
| Polydactyly, Postaxial, Type A1 |
|
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb |
OMIM:174200 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Joubert Syndrome 16 |
|
Polydactyly, Coloboma, Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Clinodactyly of the 5th finger, Finger syndactyly, Malar flattening, Microgn... |
ORPHA:264200 |
| Terminal Osseous Dysplasia |
|
Mesomelic leg shortening, Short toe, Toe clinodactyly, Malar flattening, Camptodactyly of toe, Ca... |
OMIM:300244 |
| Moebius Syndrome |
|
Talipes equinovarus, Micrognathia, Short neck, Brachydactyly, Short phalanx of finger, Syndactyly... |
OMIM:157900 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Occipital cortical atrophy, Hypoplasia of the pons, Anophthalmia, Hypoplasia of the corpus callosum |
ORPHA:411986 |
| Joubert Syndrome 10 |
|
Cerebellar vermis hypoplasia, Macrocephaly, Molar tooth sign on MRI, Postaxial polydactyly |
OMIM:300804 |
| Hypomelanosis Of Ito |
|
Macrocephaly, Cerebral atrophy, Microcephaly, Syndactyly, Iris coloboma, Radial deviation of fing... |
OMIM:300337 |
| Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Short metatarsal, Split foot, Broad hallux phalanx, Symphalangism affecting t... |
ORPHA:1540 |
| Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... |
OMIM:174700 |
| Osteolysis Syndrome, Recessive |
|
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... |
OMIM:259610 |
| Hydrolethalus Syndrome 2 |
|
Micrognathia, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly, Preaxial foot ... |
OMIM:614120 |
| Split-Hand/Foot Malformation 4 |
|
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... |
OMIM:605289 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Bilateral talipes equinovarus, Retrognathia, Micrognathia, Postaxial polydactyly... |
OMIM:618142 |
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
Micrognathia, Microcephaly, Short neck, Neonatal death, Cerebellar hypoplasia, Agyria, Lissenceph... |
OMIM:616342 |
| Joubert Syndrome 22 |
|
Temporal cortical atrophy, 2-3 toe syndactyly, Hypoplasia of the corpus callosum, Coloboma, Posta... |
OMIM:615665 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Hypoplasia of the maxilla, Part... |
ORPHA:363417 |
| Solitary Median Maxillary Central Incisor |
|
Decreased response to growth hormone stimulation test, Microcephaly, Anophthalmia, Anterior hypop... |
OMIM:147250 |
| Silver-Russell Syndrome 3 |
|
Retrognathia, Syndactyly, Finger clinodactyly, Relative macrocephaly |
OMIM:616489 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Cavum septum pellucidum, Syndactyly, Polydactyly, Polymicrogyria, Microphthalmia, Megalencephaly,... |
OMIM:602501 |
| Orofaciodigital Syndrome Xvii |
|
Retrognathia, Partial duplication of thumb phalanx, Short neck, Short middle phalanx of the 2nd f... |
OMIM:617926 |
| Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
| X-Linked Mandibulofacial Dysostosis |
|
Micrognathia, Microcephaly, Hypoplasia of the zygomatic bone, Branchial anomaly, Webbed neck |
ORPHA:1131 |
| Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, Cutaneous syndactyly, 2-3 toe syndactyly |
OMIM:185900 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Macrocephaly, Talipes equinovarus, Camptodactyly of finger, Microcephaly, Tapered finger, Hypopla... |
ORPHA:85279 |
| Holoprosencephaly 9 |
|
Dental malocclusion, Hypoplasia of the premaxilla, Decreased response to growth hormone stimulati... |
OMIM:610829 |
| Split-Hand/Foot Malformation 1 |
|
Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... |
OMIM:183600 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach... |
OMIM:618167 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Postaxial pol... |
OMIM:617102 |
| Mend Syndrome |
|
Overlapping toe, 2-3 toe syndactyly, Microretrognathia, Overlapping fingers, Polydactyly, Long fi... |
OMIM:300960 |
| Cockayne Syndrome Type 2 |
|
Hypoplasia of the primary teeth, Anophthalmia, Subcortical white matter calcifications, Enamel hy... |
ORPHA:90322 |
| Carpenter Syndrome |
|
Talipes equinovarus, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand polydactyly, Genu val... |
ORPHA:65759 |
| Weaver Syndrome |
|
Macrocephaly, Talipes equinovarus, Retrognathia, Micrognathia, Camptodactyly of finger, Large han... |
ORPHA:3447 |
| Septooptic Dysplasia |
|
Decreased response to growth hormone stimulation test, Absent septum pellucidum, Optic nerve hypo... |
OMIM:182230 |
| Orofaciodigital Syndrome Xv |
|
Broad hallux, Molar tooth sign on MRI, Agenesis of corpus callosum, Postaxial polydactyly |
OMIM:617127 |
| Bardet-Biedl Syndrome 22 |
|
Microcephaly, Macrocephaly, Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Neural tube defect, Microphthalmia |
OMIM:600776 |
| Liebenberg Syndrome |
|
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... |
OMIM:186550 |
| Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Delayed eruption of teeth, Umbilical hernia, Microphthalmia, Anophtha... |
OMIM:305600 |
| Ectrodactyly-Polydactyly Syndrome |
|
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... |
ORPHA:1892 |
| Curry-Jones Syndrome |
|
Syndactyly, Duplication of thumb phalanx, Cutaneous syndactyly of toes, Coloboma, Polymicrogyria,... |
OMIM:601707 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Macrocephaly, Cone-shape... |
ORPHA:397973 |
| Acrootoocular Syndrome |
|
Dental malocclusion, Short toe, Decreased palmar creases, Supernumerary tooth, Decreased response... |
ORPHA:2980 |
| Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
| Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Microcephaly, Spina bifida occulta, Spina bifida, Finger syndactyly, Toe sy... |
ORPHA:64754 |
| Charlie M Syndrome |
|
Micrognathia, Brachydactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Fin... |
ORPHA:1406 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Short distal phalanx of finger, Microretrognathia, Arachnodactyly, Camptodactyly of finger, Short... |
ORPHA:2994 |
| Gordon Syndrome |
|
Camptodactyly of finger, Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:376 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... |
ORPHA:157801 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of t... |
ORPHA:3152 |
| Acromelic Frontonasal Dysostosis |
|
Talipes equinovarus, Preaxial polydactyly, Syndactyly, Polydactyly, Hypopituitarism, Hypoplasia o... |
OMIM:603671 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Short distal phalanx of the thumb, Short toe, 3-4 finger cutaneou... |
ORPHA:370010 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Talipes equinovarus, Camptodactyly of finger, Anophthalmia, Ulnar deviation of finger, Hypoplasia... |
ORPHA:1101 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... |
OMIM:102510 |
| Cerebrooculonasal Syndrome |
|
Macrocephaly, Malar flattening, Postaxial polydactyly, Optic nerve hypoplasia, Anophthalmia, Hypo... |
OMIM:605627 |
| 20P13 Microdeletion Syndrome |
|
Wide anterior fontanel, Macrocephaly, Microcephaly, Brachydactyly, Polydactyly, Clinodactyly, Fin... |
ORPHA:313781 |
| Teebi Hypertelorism Syndrome 2 |
|
Wide anterior fontanel, Clinodactyly of the 5th finger, Syndactyly, Delayed eruption of teeth |
OMIM:619736 |
| Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly |
OMIM:610140 |
| Atelosteogenesis, Type Iii |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Malar flattening, Micrognathia, Tombstone-shap... |
OMIM:108721 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Clinodactyly of the 5th finger, Widely spaced toes, Tapered distal phalanges of finger, Syndactyl... |
OMIM:609638 |
| Microphthalmia, Syndromic 2 |
|
Contracture of the proximal interphalangeal joint of the 3rd toe, Delayed eruption of teeth, Hypo... |
OMIM:300166 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615982 |
| Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Microphthalmia, Coloboma |
ORPHA:141333 |
| Carpenter Syndrome 1 |
|
Aplasia/Hypoplasia of the middle phalanges of the toes, Short neck, Genu valgum, Hypoplasia of th... |
OMIM:201000 |
| Greig Cephalopolysyndactyly Syndrome |
|
Macrocephaly, Joint contracture of the hand, Camptodactyly of toe, Broad hallux phalanx, 1-3 toe ... |
OMIM:175700 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Absent hand, Ectrodactyly, Abnormality of finger, Microphthalmia, Absent septum pellucidum, Abnor... |
ORPHA:2538 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly |
OMIM:213010 |
| Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Polydactyly, Coloboma |
OMIM:616490 |
| Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Postaxial polydactyly, Anencephaly, Cerebellar hypoplasia, Camptodac... |
OMIM:614175 |
| Al-Gazali-Bakalinova Syndrome |
|
Macrocephaly, Malar flattening, Short neck, Genu valgum, Clinodactyly, Molar tooth sign on MRI, A... |
OMIM:607131 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Microcephaly, Syndactyly, Hypoplasia of the corpus callosum, Clinodactyly, Pachygyria, Cerebral w... |
OMIM:619091 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Retrognathia, Arachnodactyly, Microcephaly, Syndactyly, Clinodactyly |
OMIM:619092 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Flared metaphysis, Short middle phalanx of the 2nd finger, Hypoplasia of t... |
OMIM:156510 |
| Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Retrognathia, Micrognathia, P... |
ORPHA:2756 |
| Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Brachydactyly, Singl... |
OMIM:617927 |
| Bardet-Biedl Syndrome 19 |
|
Polydactyly, Hyposmia |
OMIM:615996 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Micrognathia, Syndactyly, Neonatal death, Hypoplasia of the ulna, Mesomelia |
OMIM:228940 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Metatarsal osteolysis, Micrognathia, Bilateral elbow dislocations, U... |
OMIM:166300 |
| Pelvis-Shoulder Dysplasia |
|
Dislocated radial head, Talipes equinovarus, Retinal coloboma, Micrognathia, Aplasia/Hypoplasia o... |
ORPHA:2839 |
| 3P25.3 Microdeletion Syndrome |
|
Overlapping toe, Postaxial polydactyly, Micrognathia, 2-3 finger syndactyly, Tapered finger, Broa... |
ORPHA:435638 |
| Microgastria-Limb Reduction Defects Association |
|
Absent thumb, Hand oligodactyly, Hypoplasia of the radius, Fusion of the left and right thalami, ... |
OMIM:156810 |
| Brachydactyly-Syndactyly Syndrome |
|
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... |
OMIM:610713 |
| Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Anophthalmia |
ORPHA:66625 |
| Keipert Syndrome |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Macrocephaly, Broad hallux phalan... |
ORPHA:2662 |
| Split-Hand/Foot Malformation 6 |
|
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly |
OMIM:225300 |
| Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Retrognathia, Micrognathia, Hypoplasia of the radius, Anophthalmia, Arrhinen... |
ORPHA:3412 |
| Joubert Syndrome 7 |
|
Postaxial polydactyly, Postaxial hand polydactyly, Genu valgum, Abnormal corpus callosum morpholo... |
OMIM:611560 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
2-3 toe syndactyly, Macrocephaly, Anophthalmia, Coloboma, 3-4 finger syndactyly, Rhizomelia, Micr... |
OMIM:615877 |
| Aarskog-Scott Syndrome |
|
Clinodactyly of the 5th finger, Small hand, Camptodactyly of finger, Short neck, Delayed eruption... |
ORPHA:915 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Malar flattening, Arachnodactyly,... |
ORPHA:261330 |
| Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the hand or of fingers of the hand, Ulnar deviation of the hand, Hypoplasia of... |
OMIM:122880 |
| Microphthalmia, Syndromic 6 |
|
Flexion contracture of thumb, Single transverse palmar crease, Microphthalmia, Clinodactyly of th... |
OMIM:607932 |
| Joubert Syndrome 14 |
|
Malar flattening, Postaxial polydactyly, Coloboma, Microphthalmia, Encephalocele, Dandy-Walker ma... |
OMIM:614424 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Macrocephaly, Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Small finger, Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Prominent frontal sinuse... |
OMIM:170390 |
| Mohr Syndrome |
|
Metaphyseal irregularity, Bilateral postaxial polydactyly, Agenesis of central incisor, Clinodact... |
OMIM:252100 |
| Endocrine-Cerebroosteodysplasia |
|
Ulnar deviation of the hand, Malar flattening, Postaxial polydactyly, Preaxial polydactyly, Micro... |
OMIM:612651 |
| Acropectoral Syndrome |
|
Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb |
OMIM:605967 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Clinodactyly of the 5th finger, Macrocephaly, Prominent fingertip pads, Postaxial polydactyly, Ar... |
OMIM:619721 |
| Boomerang Dysplasia |
|
Abnormality of femur morphology, Decreased response to growth hormone stimulation test, Abnormal ... |
ORPHA:1263 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Macrocephaly, Micrognathia, Branchial fistula, Camptodactyly of toe, Camptodactyly of finger, Mic... |
ORPHA:261337 |
| Curry-Jones Syndrome |
|
Abnormality of thumb phalanx, Preaxial hand polydactyly, Optic disc coloboma, Iris coloboma, Broa... |
ORPHA:1553 |
| Acrofrontofacionasal Dysostosis 2 |
|
Wide anterior fontanel, Thickened nuchal skin fold, Microcephaly, Syndactyly, Broad hallux, Broad... |
OMIM:239710 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Upper limb asymmetry, Polydactyly, Relative macrocephaly |
ORPHA:231140 |
| Joubert Syndrome 18 |
|
Molar tooth sign on MRI, Polydactyly, Camptodactyly |
OMIM:614815 |
| Branchiootic Syndrome 1 |
|
Retrognathia, Branchial fistula |
OMIM:602588 |
| Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Brachydactyly, Delayed eruption of teeth, Slender long bone, Osteolytic defects of ... |
OMIM:601812 |
| Filippi Syndrome |
|
Cutaneous syndactyly, Microcephaly, Finger clinodactyly, Single transverse palmar crease, Serrate... |
OMIM:272440 |
| Acrodysostosis |
|
Short toe, Abnormal morphology of ulna, Hypoplasia of the radius, Cone-shaped epiphysis, Micromel... |
ORPHA:950 |
| Meckel Syndrome |
|
Dandy-Walker malformation, Micrognathia, Microcephaly, Anencephaly, Anophthalmia, Postaxial hand ... |
ORPHA:564 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypoplastic ischia, Microcephaly, Polydactyly |
OMIM:616910 |
| Brachydactyly Type B |
|
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... |
ORPHA:93383 |
| Craniofrontonasal Dysplasia |
|
Clinodactyly of the 5th finger, Finger syndactyly, Thickened nuchal skin fold, Broad hallux phala... |
ORPHA:1520 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Ectrodactyly, Clinodactyly of the 5th finger, Relative macrocephaly, Micrognathia, Syndactyly, Po... |
ORPHA:397590 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
| Rhombencephalosynapsis |
|
Macrocephaly, Microretrognathia, Fusion of the left and right thalami, Polydactyly, Short phalanx... |
ORPHA:59315 |
| Orofaciodigital Syndrome Iv |
|
Cerebral atrophy, Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, ... |
OMIM:258860 |
| Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
| Joubert Syndrome 40 |
|
Optic nerve hypoplasia, Molar tooth sign on MRI, Postaxial polydactyly |
OMIM:619582 |
| Faciocardiomelic Dysplasia, Lethal |
|
Retrognathia, Micrognathia, Hypoplasia of the radius, Short 5th finger, Neonatal death, Single tr... |
OMIM:227270 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Overlapping toe, Postaxial polydactyly, Retrognathia, Micrognathia, Microcephaly, Tapered finger,... |
OMIM:613792 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Enamel hypoplasia, Syndactyly, Death in infancy, Carious teeth |
OMIM:226700 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Split hand, Syndactyly, Joint contracture of the hand, Camptodactyly |
OMIM:225280 |
| Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
Dental malocclusion, Supernumerary tooth, Decreased response to growth hormone stimulation test, ... |
OMIM:264475 |
| Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Osteolytic defects of the distal phalanges of the hand, Short ... |
ORPHA:50815 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Microphthalmia, Relative macrocephaly, Postaxial polydactyly, Preaxial polydac... |
OMIM:616300 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal 5th metacarpal morphology, Cone-shaped epiphysis, Rhizomelic arm shortening, Abnormal ba... |
ORPHA:397715 |
| Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
| Malan Syndrome |
|
Macrocephaly, Retrognathia, Advanced eruption of teeth, Long fingers, Hypoplasia of the corpus ca... |
OMIM:614753 |
| Summitt Syndrome |
|
Clinodactyly of the 5th finger, Macrocephaly, Camptodactyly of finger, Brachydactyly, Genu valgum... |
ORPHA:3210 |
| Slc35A2-Cdg |
|
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Hip subluxation, Ta... |
ORPHA:356961 |
| Cranioectodermal Dysplasia |
|
Short distal phalanx of finger, Taurodontia, Clinodactyly of the 5th finger, Finger syndactyly, B... |
ORPHA:1515 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Dental malocclusion, Talipes equinovarus, Postaxial polydactyly, Optic nerve hypoplasia, Microcep... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Dental malocclusion, Talipes equinovarus, Postaxial polydactyly, Optic nerve hypoplasia, Microcep... |
ORPHA:352665 |
| Frontorhiny |
|
Basal encephalocele, Camptodactyly of finger, Finger clinodactyly, Brachydactyly, Hypopituitarism... |
ORPHA:391474 |
| Mullegama-Klein-Martinez Syndrome |
|
Micrognathia, Microcephaly, Clinodactyly of the 5th finger, Polydactyly |
OMIM:301022 |
| Split-Hand/Foot Malformation 2 |
|
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly |
OMIM:313350 |
| Cohen Syndrome |
|
Thick corpus callosum, Macrodontia of permanent maxillary central incisor, Decreased response to ... |
OMIM:216550 |
| Brachydactyly Type B2 |
|
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... |
ORPHA:140908 |
| Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
| Ritscher-Schinzel Syndrome 2 |
|
Short distal phalanx of finger, Overlapping toe, Macrocephaly, Dandy-Walker malformation, Syndact... |
OMIM:300963 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental malocclusion, Fifth finger distal phalanx clinodactyly, Broad long bones, Macrodontia of p... |
OMIM:257850 |
| Septopreoptic Holoprosencephaly |
|
Perisylvian polymicrogyria, Microcephaly, Hypoplasia of the pons, Anterior hypopituitarism, Abnor... |
ORPHA:280195 |
| Meckel Syndrome, Type 2 |
|
Microphthalmia, Anencephaly, Polydactyly, Postaxial hand polydactyly, Cystic hygroma, Bowing of t... |
OMIM:603194 |
| Charge Syndrome |
|
Clinodactyly of the 5th finger, Aqueductal stenosis, Microcephaly, Brachydactyly, Anterior hypopi... |
ORPHA:138 |
| Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Microcephaly, Brachydactyly, Polydactyly, Single transverse palmar crease, Cli... |
OMIM:618950 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Malar flattening, Micrognathia, Micromelia, Brachydactyly, Split hand, Webbed neck, Finger syndac... |
ORPHA:2145 |
| Craniofacial-Deafness-Hand Syndrome |
|
Camptodactyly of finger, Ulnar deviation of the wrist, Ulnar deviation of finger, Abnormality of ... |
ORPHA:1529 |
| Split-Hand/Foot Malformation 3 |
|
Split hand, Microretrognathia, Hypoplasia of the maxilla, Camptodactyly |
OMIM:246560 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Micrognathia, Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly |
OMIM:615761 |
| Femur-Fibula-Ulna Complex |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short humerus, Micromel... |
ORPHA:2019 |
| 2Q31.1 Microdeletion Syndrome |
|
Short neck, Optic disc coloboma, Tapered finger, Abnormality of fibula morphology, Sandal gap, Mi... |
ORPHA:251014 |
| Branchiooculofacial Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Cleft of chin, Malar flattening, Retinal coloboma... |
OMIM:113620 |
| 20P12.3 Microdeletion Syndrome |
|
Macrocephaly, Malar flattening, Broad hallux phalanx, Broad thumb, Hypoplasia of the maxilla |
ORPHA:261295 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Aquedu... |
ORPHA:1788 |
| Joubert Syndrome 20 |
|
Molar tooth sign on MRI, Syndactyly, Postaxial polydactyly |
OMIM:614970 |
| Nephronophthisis 15 |
|
Cerebellar vermis hypoplasia, Polydactyly |
OMIM:614845 |
| Polydactyly, Postaxial, Type A7 |
|
Postaxial polydactyly |
OMIM:617642 |
| Au-Kline Syndrome |
|
Overlapping toe, Postaxial polydactyly, Thickened nuchal skin fold, Deep palmar crease, Hip dyspl... |
OMIM:616580 |
| Lujan-Fryns Syndrome |
|
Macrocephaly, Arachnodactyly, Micrognathia, Camptodactyly of finger, Brachydactyly, Hypoplasia of... |
ORPHA:776 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Palmoplantar keratoderma, Syndactyly |
OMIM:613576 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Mosaic Trisomy 1 |
|
Macrocephaly, 2-3 finger syndactyly, Finger clinodactyly, Polymicrogyria, Single transverse palma... |
ORPHA:1692 |
| Joubert Syndrome 32 |
|
Macrocephaly, Molar tooth sign on MRI, Polymicrogyria, Postaxial polydactyly |
OMIM:617757 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Slender long bones with narrow diaphyses, Metaphyseal striations, Short femoral neck, Genu valgum... |
OMIM:608154 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Microcephaly, Syndactyly |
OMIM:615284 |
| Microphthalmia, Lenz Type |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the corpus callosum, Camptodactyly of finge... |
ORPHA:568 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Wide anterior fontanel, Micrognathia, Microcephaly, Short neck, Brachydactyly, Syndactyly, Cerebe... |
OMIM:217980 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Microcephaly, Syndactyly, Cerebellar hypoplasia, Clinodactyly, Mandibular prognathia |
OMIM:618087 |
| Bardet-Biedl Syndrome 9 |
|
Postaxial polydactyly, Syndactyly, Brachydactyly, Polydactyly, Postaxial hand polydactyly, Postax... |
OMIM:615986 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... |
ORPHA:2633 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Brachydactyly, Syndactyly, Radioulnar synostosis, Clinodactyly, Tarsal synosto... |
OMIM:605282 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Triphalangeal thumb, Palmoplantar keratoderma, Short ... |
ORPHA:2251 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Microcephaly, Broad thumb, Syndactyly |
OMIM:617364 |
| Proximal Symphalangism |
|
Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Brachydactyly, Synostos... |
ORPHA:3250 |
| Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Aplasia/Hypopl... |
ORPHA:2378 |
| Ritscher-Schinzel Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Dandy-Walker malformation, Micrognathia, S... |
OMIM:220210 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Overlapping toe, Talipes equinovarus, Dandy-Walker malformation, Distally placed thumb, Micrognat... |
OMIM:619148 |
| Synpolydactyly 2 |
|
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... |
OMIM:608180 |
| Eem Syndrome |
|
Ectrodactyly, Finger syndactyly, Carious teeth |
ORPHA:1897 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot |
OMIM:314360 |
| Joubert Syndrome 37 |
|
Postaxial polydactyly, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Broad nec... |
OMIM:619185 |
| Pde4D Haploinsufficiency Syndrome |
|
Broad metacarpals, Broad phalanx, Short toe, Short metatarsal, Malar flattening, Micrognathia, Co... |
ORPHA:439822 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
2-3 toe syndactyly, Long fingers, Tapered finger, Hypoplasia of the maxilla, Agenesis of corpus c... |
OMIM:218000 |
| Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Polydactyly |
OMIM:614464 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Abnormality of the wrist, Abnormal thumb morphology, Proximal placement of thumb, Finger syndactyly |
ORPHA:1825 |
| Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the radius, Micrognathia, Syndactyly, Hypoplasia of the ulna |
OMIM:212780 |
| Cockayne Syndrome Type 1 |
|
Hypoplasia of the primary teeth, Basal ganglia calcification, Anophthalmia, Enamel hypoplasia, Ma... |
ORPHA:90321 |
| Orofaciodigital Syndrome Type 6 |
|
Biparietal narrowing, Hypothalamic hamartoma, Preaxial polydactyly, Micrognathia, Finger clinodac... |
ORPHA:2754 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of the olfactory bulb, Hyposmia, Failure of eruption of permanent teeth, Anophthalmia,... |
ORPHA:2250 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Micrognathia, Microcephaly, Anencephaly, Micromelia, Aplasia/Hypoplasia of the cerebellum, Mesome... |
ORPHA:1908 |
| Aplasia Cutis Congenita |
|
Spinal dysraphism, Finger syndactyly, Toe syndactyly |
ORPHA:1114 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Macrocephaly, Malar flattening, Rieger anomaly, Hypoplasia of the maxilla, Hip dislocation, Coxa ... |
OMIM:109120 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Macrocephaly, Microretrognathia, Abnormal morphology of ulna, Split foot, Aplasia/Hypoplasia of t... |
ORPHA:1307 |
| Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly |
OMIM:615397 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial hand polydactyly, Short fourth metatarsal, Hyposmia, Brachydactyly, Polydactyly, Postax... |
OMIM:615994 |
| Martsolf Syndrome 1 |
|
Short toe, Talipes equinovarus, Slender ulna, Finger joint hypermobility, Micrognathia, Microceph... |
OMIM:212720 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Microcephaly, Hypoplasia of the corpus callosum, Coloboma, Cystic hygroma, Branchial anomaly, Hip... |
ORPHA:453499 |
| Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Macrocephaly, Talipes equinovarus, Adducted thumb, Aplasia/Hypoplasia of the cor... |
OMIM:617822 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Micrognathia, Mic... |
OMIM:617866 |
| Craniodigital-Intellectual Disability Syndrome |
|
Micrognathia, Finger syndactyly, Spina bifida occulta |
ORPHA:1514 |
| Microphthalmia, Isolated 8 |
|
Retinal coloboma, Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia |
OMIM:615113 |
| Microcephaly-Capillary Malformation Syndrome |
|
Short distal phalanx of finger, Cerebral atrophy, Brachydactyly, Hypoplasia of the corpus callosu... |
OMIM:614261 |
| Acrofacial Dysostosis, Catania Type |
|
Clinodactyly of the 5th finger, Microretrognathia, Small hand, Microcephaly, Brachydactyly, Bilat... |
ORPHA:1786 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Overlapping toe, 2-3 toe syndactyly, Cerebral atrophy, Adducted thumb, Retrognathia, Deviation of... |
ORPHA:464738 |
| Miller-Dieker Lissencephaly Syndrome |
|
Clinodactyly of the 5th finger, Joint contracture of the hand, Cavum septum pellucidum, Micrognat... |
OMIM:247200 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
2-3 toe syndactyly, Postaxial polydactyly, Micrognathia, Broad distal phalanx of finger, Abnormal... |
ORPHA:404440 |
| Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Camptodactyly of finger, Synostosis of carpal bones, Triphalangea... |
ORPHA:957 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Elevated circulating luteinizing hormone level, Short ne... |
OMIM:305400 |
| Coffin-Lowry Syndrome |
|
Short distal phalanx of finger, Cerebral cortical atrophy, Microcephaly, Broad finger, Delayed er... |
ORPHA:192 |
| Pfeiffer Syndrome |
|
Clinodactyly of the 5th finger, Short neck, Synostosis of carpal bones, Symphalangism affecting t... |
ORPHA:710 |
| Laurence-Moon Syndrome |
|
Bilateral single transverse palmar creases, Brachydactyly, Iris coloboma, Hand polydactyly, Finge... |
ORPHA:2377 |
| Pycnodysostosis |
|
Obtuse angle of mandible, Dental malocclusion, Cerebral dysmyelination, Persistence of primary te... |
ORPHA:763 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Iris coloboma, Anophthalmia, Agenesis of corpus callosum, Microphthalmia |
ORPHA:77298 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Micrognathia, Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phalanges of the hand, Hy... |
ORPHA:2256 |
| Microphthalmia, Syndromic 3 |
|
Hypothalamic hamartoma, Optic nerve hypoplasia, Microcephaly, Anophthalmia, Hypoplasia of the cor... |
OMIM:206900 |
| Pelger-Huet Anomaly |
|
Macrocephaly, Polydactyly, Upper limb undergrowth, Short 3rd metacarpal, Umbilical hernia, Short ... |
OMIM:169400 |
| Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Clinodactyly, Thin corpus c... |
OMIM:300049 |
| Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Deviation of the 5th finger, Postaxial polydactyly, Microcephaly, Hypoplasia of the corpus callos... |
OMIM:616362 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Thin metacarpal cortices, Hypoplasia of the maxilla, Osteolysis involv... |
OMIM:259600 |
| Joubert Syndrome 17 |
|
Cerebellar vermis hypoplasia, Syndactyly, Polydactyly, Molar tooth sign on MRI |
OMIM:614615 |
| Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Mandibular prognathia, Hypoplasia of the maxilla, Aplasia/Hypopla... |
ORPHA:1248 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Short distal phalanx of finger, Hypoplasia of the maxilla |
ORPHA:2776 |
| Meckel Syndrome 14 |
|
Microretrognathia, Postaxial polydactyly, Retrognathia, Micrognathia, Short neck, Syndactyly, Pos... |
OMIM:619879 |
| Charge Syndrome |
|
Down-sloping shoulders, Hypoplasia of the ulna, Umbilical hernia, Microphthalmia, Bilateral talip... |
OMIM:214800 |
| Stromme Syndrome |
|
Preaxial polydactyly, Micrognathia, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, ... |
OMIM:243605 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Malar flattening, Brachydactyly, Aplasia/Hypoplasia of the cerebellum, Abnormal metacarpal morpho... |
ORPHA:93262 |
| Meckel Syndrome, Type 4 |
|
Microphthalmia, Microcephaly, Anencephaly, Hypoplasia of the corpus callosum, Agenesis of cerebel... |
OMIM:611134 |
| Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Cerebral calcification, Microcephaly, Short neck, Microme... |
ORPHA:1798 |
| Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
Microcephaly, Hypoplasia of the maxilla, Basal ganglia calcification |
OMIM:608432 |
| Tarp Syndrome |
|
Short sternum, Talipes equinovarus, Postaxial polydactyly, Hypoplasia of the radius, Micrognathia... |
OMIM:311900 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Coloboma |
OMIM:167730 |
| Ring Chromosome 21 Syndrome |
|
Small hand, Microcephaly, Syndactyly, Narrow palm, Clinodactyly |
ORPHA:1445 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Cerebral atrophy, Postaxial polydactyly, Retrognathia, Microcephaly, Hypoplasia of the corpus cal... |
OMIM:614576 |
| Bohring-Opitz Syndrome |
|
Overlapping toe, Short toe, Dislocated radial head, Retrognathia, Micrognathia, Deep palmar creas... |
OMIM:605039 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Short distal phalanx of finger, Microretrognathia, Talipes equinovarus, Microcephaly, Syndactyly,... |
OMIM:615789 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Short neck, Micromelia, Brachydactyly, Syndactyly, Single transverse palmar crease, Sandal gap |
OMIM:614800 |
| Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Genu valgum, Hypoplasia of the maxilla, Postaxial polydactyly |
OMIM:619142 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Abnormality of the hand, Short neck, Syndactyly, Camptodactyly, Clinodactyly, Umbilical hernia, B... |
ORPHA:369891 |
| Acrocallosal Syndrome |
|
Macrocephaly, Tapered finger, Bifid distal phalanx of the thumb, Umbilical hernia, Mandibular pro... |
OMIM:200990 |
| Witteveen-Kolk Syndrome |
|
Branchial fistula, Hypoplasia of the corpus callosum, Microphthalmia, Dysplastic corpus callosum,... |
OMIM:613406 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Wide anterior fontanel, Narrow greater sciatic notch, Postaxial polydactyly, Preaxial polydactyly... |
OMIM:617925 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Retrognathia, Arachnodactyly, Cerebral calcification, Microcephaly, Short palm, Finger syndactyly... |
ORPHA:73246 |
| Pallister-Hall Syndrome |
|
Distal shortening of limbs, Mesoaxial hand polydactyly, Decreased response to growth hormone stim... |
OMIM:146510 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Microcephaly, Postaxial polydactyly |
ORPHA:544254 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short distal phalanx of finger, Postaxial polydactyly, Micromelia, Polydactyly, Brachydactyly, Sy... |
OMIM:614091 |
| Pfeiffer Syndrome |
|
Elbow ankylosis, Humeroradial synostosis, Short middle phalanx of toe, Syndactyly, Broad hallux, ... |
OMIM:101600 |
| 8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Short neck, Microcephaly, Sandal gap, Hypoplasia of the maxilla, Finger ... |
ORPHA:178303 |
| Triploidy |
|
Aplasia/Hypoplasia affecting the eye, Macrocephaly, Micrognathia, Short neck, Iris coloboma, Meni... |
ORPHA:3376 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Dental malocclusion, Cone-shaped epiphyses of the phalanges of the hand, Long hallux, Decreased g... |
OMIM:101800 |
| Meckel Syndrome, Type 1 |
|
Short neck, Anencephaly, Bowing of the long bones, Microphthalmia, Cerebral hypoplasia, Postaxial... |
OMIM:249000 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Clinodactyly of the 5th finger, Deep palmar crease, Syndactyly, Brachydactyly, Genu varum, Hip di... |
OMIM:619451 |
| Cohen Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Micrognathia, Micro... |
ORPHA:193 |
| Branchiootorenal Syndrome 1 |
|
Branchial cyst, Abnormal cerebral morphology, Branchial fistula, Congenital hip dislocation |
OMIM:113650 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Bor Syndrome |
|
Branchial cyst, Retrognathia |
ORPHA:107 |
| Apert Syndrome |
|
Cutaneous syndactyly, Delayed eruption of teeth, Rhizomelic arm shortening, Mandibular prognathia... |
OMIM:101200 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Arachnodactyly, Hypoplasia of the corpus callosum, Broad hallux, Broad thumb, Hypoplasia of the m... |
ORPHA:481152 |
| Branchiootic Syndrome |
|
Micrognathia, Branchial fistula |
ORPHA:52429 |
| Microphthalmia, Syndromic 5 |
|
Optic nerve hypoplasia, Anophthalmia, Coloboma, Ectopic posterior pituitary, Microphthalmia |
OMIM:610125 |
| Treacher-Collins Syndrome |
|
Malar flattening, Retrognathia, Micrognathia, Branchial fistula, Hypoplasia of the zygomatic bone... |
ORPHA:861 |
| Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Sandal gap, Microphthalmia, Pecto... |
OMIM:607323 |
| Spastic Paraplegia 16, X-Linked |
|
Short distal phalanx of finger, Hypoplasia of the maxilla |
OMIM:300266 |
| Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... |
ORPHA:1505 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Abnormality of femur morphology, Micrognathia, Limb undergrowth, Abnormal metacarpal morphology, ... |
ORPHA:3429 |
| Cenani-Lenz Syndrome |
|
Finger syndactyly, Malar flattening, Hypoplasia of the radius, Micromelia, Synostosis of carpal b... |
ORPHA:3258 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
| Cri-Du-Chat Syndrome |
|
Microretrognathia, Short metacarpal, Microcephaly, Short neck, Anterior open-bite malocclusion, S... |
OMIM:123450 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thick corpus callosum, Macrocephaly, Postaxial polydactyly, Abnormally large globe, Hypoplasia of... |
OMIM:603387 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Prominent fingertip pads, Brachydactyly, Single transverse palmar crease, Branchial anomaly, Shor... |
ORPHA:466950 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Biparietal narrowing, Abnormal hip bone morphology, Micrognathia, Camptodactyly of finger, Synost... |
ORPHA:1323 |
| Fatco Syndrome |
|
Absent hand, Abnormality of tibia morphology, Abnormality of fibula morphology, Tarsal synostosis... |
ORPHA:2492 |
| Van Maldergem Syndrome 1 |
|
Dental malocclusion, Wide anterior fontanel, Short clavicles, Talipes equinovarus, Malar flatteni... |
OMIM:601390 |
| Acrofacial Dysostosis, Palagonia Type |
|
Supernumerary tooth, Malar flattening, Small hand, Micrognathia, Short neck, Spina bifida occulta... |
ORPHA:1787 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Malar flattening, Congenital hip dislocation, Deviation of finger, Prominence of the premaxilla |
ORPHA:2412 |
| Silver-Russell Syndrome 1 |
|
Clinodactyly of the 5th finger, Decreased response to growth hormone stimulation test, Micrognath... |
OMIM:180860 |
| 3C Syndrome |
|
Macrocephaly, Dandy-Walker malformation, Abnormal hip bone morphology, Micrognathia, Short neck, ... |
ORPHA:7 |
| Orofaciodigital Syndrome I |
|
Myelomeningocele, Supernumerary tooth, Microretrognathia, Cerebral atrophy, Hypothalamic hamartom... |
OMIM:311200 |
| Adnp Syndrome |
|
Abnormality of finger, 2-3 toe syndactyly, Abnormality of toe, Focal white matter lesions, Cerebr... |
ORPHA:404448 |
| Czeizel-Losonci Syndrome |
|
Myelomeningocele, Ectrodactyly, Split foot, Thickened nuchal skin fold, Micrognathia, 2-3 finger ... |
ORPHA:2437 |
| Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Short clavicles, Toe clinodactyly, S... |
OMIM:615777 |
| Greenberg Dysplasia |
|
Macrocephaly, Micromelia, Rhizomelia, Hypoplasia of the maxilla, Tetraphocomelia, Fractured rib, ... |
OMIM:215140 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Relative macrocephaly, Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Brachyd... |
OMIM:617895 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-3 toe cutaneous syndactyly, Palmar hyperkeratosis, Enamel hypoplasia, 4-5 toe syndactyly, Cutan... |
OMIM:613573 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microcephaly, Coloboma, Hypoplasia of the maxilla, Bilateral micr... |
ORPHA:2399 |
| Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
| Basal Cell Nevus Syndrome |
|
Short distal phalanx of the thumb, Macrocephaly, Microphthalmia, Irregular ossification of hand b... |
OMIM:109400 |
| Meckel Syndrome, Type 3 |
|
Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Occipital encephalocele, Dan... |
OMIM:607361 |
| 6P22 Microdeletion Syndrome |
|
Short neck, Clinodactyly, Finger syndactyly |
ORPHA:251046 |
| Fraser Syndrome 1 |
|
Myelomeningocele, Dental malocclusion, Microcephaly, Anophthalmia, Abnormal cortical gyration, Wi... |
OMIM:219000 |
| Fraser Syndrome |
|
Myelomeningocele, Dental malocclusion, Microcephaly, Anophthalmia, Wide pubic symphysis, Death in... |
ORPHA:2052 |
| Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Subcortical band heterotopia, Progr... |
OMIM:618737 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb... |
ORPHA:3320 |
| Subaortic Stenosis--Short Stature Syndrome |
|
Short toe, Malar flattening, Small hand, Short neck, Broad finger, Short phalanx of finger, Hypop... |
OMIM:271960 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Short toe, Syndactyly |
OMIM:612581 |
| Acro-Renal-Ocular Syndrome |
|
Radial club hand, Optic disc coloboma, Hypoplasia of the ulna, Sandal gap, Microphthalmia, Short ... |
ORPHA:959 |
| Roberts Syndrome |
|
Hypoplasia of the radius, Short neck, Abnormality of the upper limb, Radioulnar synostosis, Sanda... |
ORPHA:3103 |
| Van Maldergem Syndrome 2 |
|
Dental malocclusion, Wide anterior fontanel, Short clavicles, Talipes equinovarus, Malar flatteni... |
OMIM:615546 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Retinal coloboma, Iris coloboma, Preaxial polydactyly, Chorioretinal coloboma |
ORPHA:2921 |
| Proboscis Lateralis |
|
Macrocephaly, Abnormal facial skeleton morphology, Optic nerve hypoplasia, Abnormal ethmoid bone ... |
ORPHA:141099 |
| Microphthalmia, Isolated 3 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Microcephaly, Periventricular leukomalacia, Hypoplasia of the maxilla |
OMIM:618302 |
| Otopalatodigital Syndrome Type 2 |
|
Myelomeningocele, Carpal synostosis, Flared iliac wing, Malar flattening, Preaxial polydactyly, M... |
ORPHA:90652 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Short clavicles, Finger syndactyly, Absent middle phalanx of 3rd finger, Micrognathia, Absent mid... |
OMIM:308050 |
| Opitz-Kaveggia Syndrome |
|
Wide anterior fontanel, Joint contracture of the hand, Prominent fingertip pads, Split hand, Micr... |
OMIM:305450 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Microcephaly, Synostosis of carpal bones, Brac... |
ORPHA:1005 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Microcephaly, Hypoplasia of the maxilla |
ORPHA:93950 |
| Neu-Laxova Syndrome 2 |
|
Micrognathia, Microcephaly, Short neck, Cerebellar hypoplasia, Lissencephaly, Rocker bottom foot,... |
OMIM:616038 |
| Kbg Syndrome |
|
Cutaneous syndactyly, Short neck, Finger clinodactyly, Microcephaly, Single transverse palmar cre... |
ORPHA:2332 |
| Goldberg-Shprintzen Syndrome |
|
Small hand, Microcephaly, Short neck, Tapered finger, Hypoplasia of the corpus callosum, Polymicr... |
OMIM:609460 |
| Rubinstein-Taybi Syndrome |
|
Clinodactyly of the 5th finger, Micrognathia, Broad hallux phalanx, Microcephaly, Brachydactyly, ... |
ORPHA:783 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Malar flattening, Micrognathia, Hypoplasia of the maxilla, Secondary microcephaly, Preaxial hand ... |
ORPHA:79113 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Brachydactyly, Short long bone, Postaxial polydactyly |
OMIM:615633 |
| 17Q12 Microduplication Syndrome |
|
Cortical dysplasia, Microphthalmia, Finger syndactyly, Toe syndactyly |
ORPHA:261272 |
| Bartsocas-Papas Syndrome |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Absent thumb, Micrognathia, Microcephaly,... |
ORPHA:1234 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Talipes equinovarus, Arachnodactyly, Prominence of the zygomatic bone, Camptodactyly of finger, A... |
ORPHA:2215 |
| Nablus Mask-Like Facial Syndrome |
|
Joint contracture of the hand, Retrognathia, Short neck, Tapered finger, Camptodactyly, Hypoplasi... |
OMIM:608156 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Short distal phalanx of finger, Macrocephaly, Talipes equinovarus, Micrognathia, Microcephaly, Br... |
OMIM:300534 |
| Oligomeganephronia |
|
Branchial cyst, Micrognathia, Optic disc coloboma |
ORPHA:2260 |
| Ivic Syndrome |
|
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... |
OMIM:147750 |
| Cerebrofacioarticular Syndrome |
|
Dysplastic corpus callosum, Talipes equinovarus, Micrognathia, Microcephaly, Syndactyly, Hypoplas... |
ORPHA:314679 |
| Kinsship Syndrome |
|
Dislocated radial head, Micrognathia, Microcephaly, Short neck, Polydactyly, Single transverse pa... |
OMIM:619297 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Coxa vara, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Microcephaly, Brachydactyly, Short... |
OMIM:614701 |
| Joubert Syndrome 21 |
|
Elongated superior cerebellar peduncle, Anophthalmia, Hypoplasia of the corpus callosum, Occipita... |
OMIM:615636 |
| Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ulnar radial head dislocation, Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
| Poland Syndrome |
|
Syndactyly, Unilateral brachydactyly, Unilateral oligodactyly, Hypoplasia of deltoid muscle |
OMIM:173800 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Macrocephaly, Hypoplasia of the maxilla, Long palm |
OMIM:300676 |
| Apert Syndrome |
|
Absent septum pellucidum, Micromelia, Delayed eruption of teeth, Broad thumb, Hypoplasia of the m... |
ORPHA:87 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Short forearm, Ca... |
OMIM:274000 |
| Sweeney-Cox Syndrome |
|
Wide anterior fontanel, Short clavicles, Micrognathia, Cutaneous syndactyly, Cerebellar hypoplasi... |
OMIM:617746 |
| Isolated Osteopoikilosis |
|
Abnormality of femur morphology, Abnormality of limb bone, Syndactyly, Abnormal pelvis bone ossif... |
ORPHA:166119 |
| Laurin-Sandrow Syndrome |
|
Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, Hand polydactyly, F... |
OMIM:135750 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly, Carious teeth |
ORPHA:1997 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Stippled calcification in carpal bones, Malar flattening, Bilateral talipes equinovarus, Postaxia... |
OMIM:302960 |
| Neu-Laxova Syndrome 1 |
|
Short neck, Micromelia, Small placenta, Microphthalmia, Rocker bottom foot, Calcaneovalgus deform... |
OMIM:256520 |
| Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
| Postaxial Acrofacial Dysostosis |
|
Malar flattening, Hypoplasia of the radius, Micrognathia, Camptodactyly of finger, Hypoplasia of ... |
ORPHA:246 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Overlapping toe, Macrocephaly, Cutaneous syndactyly, Overlapping fingers, Long fingers, Long toe |
OMIM:618316 |
| Pfeiffer Syndrome Type 1 |
|
Aqueductal stenosis, Broad hallux phalanx, Short hallux, Broad thumb, Hallux varus, Short foot, S... |
ORPHA:93258 |
| Monosomy 9Q22.3 |
|
Macrocephaly, Calcification of falx cerebri, Short neck, Polydactyly, Delayed eruption of teeth, ... |
ORPHA:77301 |
| 19Q13.11 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Toe clinodactyly, Retrognathia, Microcephaly, Congenital hip disl... |
ORPHA:217346 |
| Cerebellar-Facial-Dental Syndrome |
|
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor, Micrognathi... |
ORPHA:444072 |
| Joubert Syndrome 2 |
|
Elongated superior cerebellar peduncle, Hypoplasia of the brainstem, Macrocephaly, Optic disc col... |
OMIM:608091 |
| Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Supernumerary tooth, Postaxial polydactyly, Retinal coloboma, Micrognathia, Pr... |
OMIM:615948 |
| 2Q37 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Macrocephaly, Small hand, Microcephaly, Short neck, Brachydactyly... |
ORPHA:1001 |
| Rubinstein-Taybi Syndrome 1 |
|
Prominent fingertip pads, Single transverse palmar crease, Broad hallux, Hypoplasia of the maxill... |
OMIM:180849 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Retinal coloboma, Preaxial polydactyly, Short neck, Anencephaly, Micromeli... |
OMIM:616546 |
| Holt-Oram Syndrome |
|
Aplasia of the ulna, Short clavicles, Absent thumb, Hypoplasia of the radius, Partial duplication... |
OMIM:142900 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Finger clinodactyly, Brachydactyly, Cranium bifidum occultum, Hypoplasia... |
ORPHA:306542 |
| Myoclonic-Astatic Epilepsy |
|
Microcephaly, Syndactyly, Microphthalmia |
ORPHA:1942 |
| 8Q24.3 Microdeletion Syndrome |
|
Short neck, Congenital hip dislocation, Micromelia, Finger clinodactyly, Hypoplasia of the corpus... |
ORPHA:508488 |
| Meier-Gorlin Syndrome 5 |
|
Micrognathia, Microcephaly, Hypoplasia of the capital femoral epiphysis, Irregular femoral epiphy... |
OMIM:613805 |
| Oculodentodigital Dysplasia |
|
Cerebral calcification, Aplasia/Hypoplasia of the cerebellum, Carious teeth, Umbilical hernia, Ab... |
ORPHA:2710 |
| 8Q21.11 Microdeletion Syndrome |
|
Abnormality of the sense of smell, Micrognathia, Camptodactyly of finger, Short neck, Abnormal me... |
ORPHA:284160 |
| Fg Syndrome Type 1 |
|
Macrocephaly, Small pituitary gland, Malar flattening, Micrognathia, Optic nerve hypoplasia, Limi... |
ORPHA:93932 |
| Microphthalmia, Syndromic 1 |
|
Webbed neck, Short clavicles, Abnormal palmar dermatoglyphics, Joint contracture of the hand, Pro... |
OMIM:309800 |
| Monosomy 13Q14 |
|
Clinodactyly of the 5th finger, Micrognathia, Microcephaly, Short neck, Brachydactyly, Hypoplasia... |
ORPHA:1587 |
| Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
| Isolated Split Hand-Split Foot Malformation |
|
Absent hand, Oligodactyly, Split hand, Aniridia, Finger syndactyly |
ORPHA:2440 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Micrognathia, Short neck, Syndactyly, Hypoplasia of the corpus callosum, Camptodactyly, Absent pa... |
OMIM:614230 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short long bone, Postaxia... |
OMIM:613091 |
| Van Den Ende-Gupta Syndrome |
|
Femoral bowing, Tapered finger, Glenoid fossa hypoplasia, Long metacarpals, Hypoplasia of the max... |
OMIM:600920 |
| Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Malar flattening, Microcephaly, Cerebellar hypoplasia, I... |
OMIM:157170 |
| Duplication Of The Pituitary Gland |
|
Abnormality of the pituitary gland, Supernumerary tooth, Abnormal hypothalamus morphology, Retrog... |
ORPHA:314621 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Clinodactyly of the 5th finger, Microretrognathia, Hypoplasia of the maxilla, Biparietal narrowing |
ORPHA:228396 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Microcephaly, Hypoplasia of the corpus callosum, Iris coloboma, Pachygyria, Finger syndactyly |
ORPHA:66629 |
| Focal Dermal Hypoplasia |
|
Short clavicles, Abnormal palmar dermatoglyphics, Finger syndactyly, Split foot, Hand polydactyly... |
ORPHA:2092 |
| Acro-Renal-Mandibular Syndrome |
|
Split foot, Hypoplasia of the radius, Micrognathia, Abnormality of the sense of smell, Short neck... |
ORPHA:958 |
| Craniofacial Microsomia |
|
Microphthalmia, Malar flattening, Micrognathia, Maxillozygomatic hypoplasia, Partial duplication ... |
OMIM:164210 |
| Nager Syndrome |
|
Hypoplasia of the radius, Micrognathia, Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of t... |
ORPHA:245 |
| Microphthalmia, Syndromic 9 |
|
Micrognathia, Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
| Hemifacial Hyperplasia |
|
Dental malocclusion, Hypoplasia of the maxilla |
OMIM:133900 |
| Holt-Oram Syndrome |
|
Absent thumb, Down-sloping shoulders, Abnormality of the humerus, Radioulnar synostosis, Aplasia/... |
ORPHA:392 |
| Blepharocheilodontic Syndrome 1 |
|
Cutaneous syndactyly, Clinodactyly, Neural tube defect |
OMIM:119580 |
| Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly |
OMIM:601163 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the maxilla, Sho... |
OMIM:300106 |
| Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Malar flattening, Small hand, Broad hallux phalanx, Short hallux, Deviation ... |
ORPHA:93259 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Absent septum pellucidum, Retrognathia, Micrognathia, Microcephaly, Anophthalmia, Mandibular apla... |
ORPHA:2556 |
| Polysyndactyly With Cardiac Malformation |
|
Duplication of phalanx of hallux, Stillbirth, Syndactyly, Preaxial hand polydactyly |
OMIM:263630 |
| Orofaciodigital Syndrome Type 2 |
|
Cone-shaped epiphyses of the phalanges of the hand, Complete duplication of hallux phalanx, Finge... |
ORPHA:2751 |
| Adams-Oliver Syndrome |
|
Short distal phalanx of finger, Absent hand, Brachydactyly, Abnormality of the upper limb, Abnorm... |
ORPHA:974 |
| Khan-Khan-Katsanis Syndrome |
|
Postaxial polydactyly, Buphthalmos, Micrognathia, Microcephaly, Cerebellar vermis hypoplasia, Cli... |
OMIM:618460 |
| Limb-Mammary Syndrome |
|
Joint contracture of the hand, Split foot, Syndactyly, Camptodactyly, Hallux valgus, Split hand |
OMIM:603543 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Palmoplantar hyperhidrosis, Cerebral cortical atrophy, Postaxial polydactyly, Cessation of head g... |
OMIM:617527 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Dental malocclusion, Wide anterior fontanel, Dislocated radial head, Talipes equinovarus, Joint c... |
OMIM:182212 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Abnormality of the hand, Short tibia, Syndactyly, Foot oligodac... |
OMIM:246570 |
| Bardet-Biedl Syndrome 3 |
|
Brachydactyly, Postaxial polydactyly |
OMIM:600151 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Macrocephaly, Aplasia/Hypoplasia of the cerebellum, Polymicrogyria, Hand polydactyly, Foot polyda... |
ORPHA:60040 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Cerebral cortical atrophy, Short hallux, Cerebellar hypoplasia, Abnormal metacarpal morphology, A... |
ORPHA:3224 |
| Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
| Schizophrenia 1 |
|
Short proximal phalanx of the 4th toe, Syndactyly |
OMIM:181510 |
| Grange Syndrome |
|
Short palm, Syndactyly |
ORPHA:79094 |
| Lowry-Maclean Syndrome |
|
Retrognathia, Micrognathia, Microcephaly, Single transverse palmar crease, Hypoplasia of the maxi... |
ORPHA:2409 |
| Aicardi Syndrome |
|
Prominence of the premaxilla, Cavum septum pellucidum, Dilated third ventricle, Microcephaly, Opt... |
OMIM:304050 |
| Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Dandy-Walker malformation, Aplasia/Hypoplasia of the corpus callo... |
ORPHA:1647 |
| Moebius Syndrome |
|
Absent hand, Clinodactyly of the 5th finger, Talipes equinovarus, Abnormal morphology of ulna, Ap... |
ORPHA:570 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypoplasia of the corpus callosum, Polymicrogyria, Simplified gyral pattern, Pachygyria, 2-5 fing... |
ORPHA:468631 |
| Yunis-Varon Syndrome |
|
Slender long bones with narrow diaphyses, Absent thumb, Tapered finger, Short proximal phalanx of... |
ORPHA:3472 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Relative macrocephaly, Proximal symphalangism of hands, Hyperextensibility of the finger joints, ... |
OMIM:151050 |
| Stickler Syndrome Type 1 |
|
Abnormal epiphysis morphology, Hypoplasia of the maxilla, Abnormality of vertebral epiphysis morp... |
ORPHA:90653 |
| Cranioectodermal Dysplasia 3 |
|
Macrocephaly, Postaxial polydactyly, Micrognathia, Brachydactyly, Syndactyly, Sandal gap, Hypopla... |
OMIM:614099 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Camptodactyly |
OMIM:616006 |
| Pallister-Hall Syndrome |
|
Macrocephaly, Hypothalamic hamartoma, Umbilical hernia, Microphthalmia, Polydactyly affecting the... |
ORPHA:672 |
| Camptobrachydactyly |
|
Camptodactyly of finger, Brachydactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thum... |
ORPHA:1319 |
| Methylcobalamin Deficiency Type Cble |
|
Microcephaly, Syndactyly, Abnormal cerebral white matter morphology, Clinodactyly, Hypoplasia of ... |
ORPHA:2169 |
| Dubowitz Syndrome |
|
Clinodactyly of the 5th finger, Micrognathia, Microcephaly, Syndactyly, Delayed eruption of teeth... |
OMIM:223370 |
| Sclerosteosis 1 |
|
Cortically dense long tubular bones, Dental malocclusion, Malar flattening, 2-3 finger syndactyly... |
OMIM:269500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macrocephaly, Arachnodactyly, Micrognathia, Hyperextensibility of the finger joints, Broad thumb,... |
OMIM:309520 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Acetabular spurs, Macrocephaly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Brac... |
OMIM:615503 |
| Meier-Gorlin Syndrome 1 |
|
