| Gombo Syndrome |
|
Radial deviation of finger, Clinodactyly, Microcephaly, Brachydactyly, Microphthalmia |
OMIM:233270 |
| Syndactyly Type 2 |
|
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... |
ORPHA:93403 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... |
OMIM:174500 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... |
OMIM:609129 |
| Synpolydactyly 1 |
|
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... |
OMIM:186000 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Polymicrogyria, Hydrocephalus, Macrocephaly, Postaxial hand polydactyly, Thick corpus callosum, M... |
OMIM:615938 |
| Syndactyly, Type Iv |
|
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... |
OMIM:186200 |
| Syndactyly Type 1 |
|
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... |
ORPHA:93402 |
| Syndactyly, Type Iii |
|
Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4... |
OMIM:186100 |
| Triphalangeal Thumb With Polysyndactyly |
|
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... |
OMIM:190605 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... |
ORPHA:3246 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... |
OMIM:616515 |
| Spinal Muscular Atrophy With Impaired Intellectual Development |
|
Microcephaly, Syndactyly |
OMIM:271109 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly |
OMIM:234280 |
| Polydactyly, Postaxial, Type A1 |
|
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... |
OMIM:174200 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... |
ORPHA:3269 |
| Brachydactyly, Type C |
|
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... |
OMIM:113100 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin... |
ORPHA:1891 |
| Camptosynpolydactyly, Complex |
|
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly |
OMIM:607539 |
| Nevus Comedonicus Syndrome |
|
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Microcephaly, Spina bifida, Spina bifida... |
ORPHA:64754 |
| Polydactyly, Preaxial Iv |
|
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... |
OMIM:174700 |
| Microphthalmia/Coloboma 5 |
|
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microcephaly, Microphthalmia |
OMIM:616335 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Congenital Varicella Syndrome |
|
Cerebral cortical atrophy, Micromelia, Intrauterine growth retardation, Microcephaly, Microphthalmia |
ORPHA:291 |
| Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly |
OMIM:263450 |
| Brachydactyly, Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ... |
OMIM:112600 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Intrauterine growth retardation, Agenesis of corpus callosum, Cerebellar hypoplasia, Talipes equi... |
OMIM:616570 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly, Microphthalmia |
OMIM:613094 |
| Brachydactyly Type A7 |
|
Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas... |
ORPHA:93397 |
| Meckel Syndrome, Type 8 |
|
Occipital encephalocele, Anophthalmia, Encephalocele, Polydactyly, Talipes equinovarus, Microceph... |
OMIM:613885 |
| Jawad Syndrome |
|
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Primary microcephaly, Single interphala... |
OMIM:251255 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Microcephaly, 2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
| Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... |
ORPHA:957 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Mmep Syndrome |
|
Microcephaly, Triphalangeal thumb, Split foot, Microphthalmia |
ORPHA:3434 |
| Acropectoral Syndrome |
|
Finger syndactyly, Preaxial hand polydactyly |
ORPHA:85203 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
| Syndactyly Type 5 |
|
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... |
ORPHA:93406 |
| Syndactyly Type 3 |
|
Short toe, Finger syndactyly, Camptodactyly of finger |
ORPHA:93404 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Cutaneous finger syndactyly, Duplication of metatarsal bones, Aplasia/Hypoplasia of toe, Microcep... |
OMIM:600384 |
| Wahab Syndrome |
|
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... |
OMIM:615170 |
| Microphthalmia/Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Anophthalmia, Hypoplasia of the corpus callosum, Agenesis of corpus c... |
OMIM:164180 |
| Syndactyly Type 4 |
|
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... |
ORPHA:93405 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... |
OMIM:618167 |
| Acropectorovertebral Dysplasia |
|
Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Spina bi... |
OMIM:102510 |
| Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bifida, Postaxial hand polydactyly, Ho... |
ORPHA:945 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia |
ORPHA:71289 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Hypoplasia o... |
OMIM:615771 |
| Ulnar Hemimelia |
|
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... |
ORPHA:93320 |
| Frontal Encephalocele |
|
Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Encephalocele, Hydrocephalus, ... |
ORPHA:1931 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Joint contracture of the hand, Small hypothenar eminence, Talipes equinovarus, Small thenar emine... |
OMIM:211960 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... |
ORPHA:1892 |
| Santos Syndrome |
|
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... |
OMIM:613005 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym... |
OMIM:609432 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... |
ORPHA:157801 |
| Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... |
OMIM:605289 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Postaxial foot polydactyly, Postnatal growth retardation, Anophthalmia, Talipes e... |
OMIM:206920 |
| Aplasia Cutis Congenita |
|
Erythema, Toe syndactyly, Spinal dysraphism, Skin ulcer, Finger syndactyly |
ORPHA:1114 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Neural tube defect, Microphthalmia |
OMIM:600776 |
| Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
| Microphthalmia With Brain And Digit Anomalies |
|
Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyly, Finger syndactyly, Anophthalmi... |
ORPHA:139471 |
| Liebenberg Syndrome |
|
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... |
OMIM:186550 |
| 15Q11Q13 Microduplication Syndrome |
|
Short stature, Clinodactyly of the 5th finger, Finger syndactyly, Macrocephaly |
ORPHA:238446 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Radioulnar synostosis, Microcephaly, Short stature, Clinodactyly of the 5th fi... |
ORPHA:3268 |
| Crossed Polysyndactyly |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Postaxial hand polydactyly |
ORPHA:2935 |
| Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly |
OMIM:185900 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly, S... |
OMIM:610140 |
| Humero-Radial Synostosis |
|
Elbow dislocation, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Microcephaly, Elbow... |
ORPHA:3265 |
| Joubert Syndrome 22 |
|
Temporal cortical atrophy, Postaxial foot polydactyly, Intrauterine growth retardation, Hypoplasi... |
OMIM:615665 |
| Microcephaly-Cardiomyopathy |
|
Clinodactyly of the 5th finger, Microcephaly, Dilated cardiomyopathy, Sandal gap |
OMIM:251220 |
| Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... |
ORPHA:488232 |
| Fibular Hemimelia |
|
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Anophthalmia, Talip... |
ORPHA:93323 |
| Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... |
OMIM:615297 |
| Craniotelencephalic Dysplasia |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, Frontal encephal... |
ORPHA:1528 |
| Chromosome 2Q31.1 Duplication Syndrome |
|
Absent thumb, Short thumb, Talipes equinovarus, Triphalangeal thumb, Short stature, 3-4 finger cu... |
OMIM:613681 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... |
ORPHA:380 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly, Agenesis of cerebellar vermis, Occipital encephalocele |
OMIM:213010 |
| Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Delayed puberty, Hydrocephalus, Microphthalmia, Short stature |
ORPHA:141333 |
| Meckel Syndrome, Type 2 |
|
Intrauterine growth retardation, Encephalocele, Polydactyly, Bowing of the long bones, Postaxial ... |
OMIM:603194 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing... |
ORPHA:1113 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly |
ORPHA:294975 |
| Fanconi Anemia, Complementation Group G |
|
Microcephaly, Growth delay, Abnormal thumb morphology, Microphthalmia |
OMIM:614082 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615983 |
| Meckel Syndrome, Type 4 |
|
Intrauterine growth retardation, Encephalocele, Hypoplasia of the corpus callosum, Bowing of the ... |
OMIM:611134 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Clinodactyly, Brachydactyly, Microphthalmia, Short stature, Syndactyly |
OMIM:610023 |
| Split-Hand/Foot Malformation 6 |
|
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot |
OMIM:225300 |
| Seckel Syndrome 2 |
|
Basal ganglia calcification, Clinodactyly of the 5th finger, Cerebellar hypoplasia, Microcephaly,... |
OMIM:606744 |
| Syndactyly, Type V |
|
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... |
OMIM:186300 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... |
OMIM:610713 |
| Abcd Syndrome |
|
Abnormal auditory evoked potentials, Hearing impairment, Large for gestational age, Neonatal deat... |
OMIM:600501 |
| Feingold Syndrome 2 |
|
Short thumb, 3-4 toe syndactyly, Secondary microcephaly, Postnatal growth retardation, Short midd... |
OMIM:614326 |
| Split-Hand/Foot Malformation 1 |
|
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... |
OMIM:183600 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Hypoplasia of the pons, Cerebral atrophy, Intrauterine growth retardation, Cerebellar hypoplasia,... |
OMIM:616171 |
| Acute Peripheral Arterial Occlusion |
|
Abnormal capillary physiology, Supraventricular tachycardia, Pallor, Abnormality of venous physio... |
ORPHA:90064 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Deafness, Autosomal Dominant 20 |
|
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:604717 |
| Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Bilateral microphthalmos, Camptodactyl... |
ORPHA:2839 |
| Meckel Syndrome, Type 5 |
|
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Microphthalmia, Po... |
OMIM:611561 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephaloce... |
OMIM:218670 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Short distal phalanx of finger, Toe syndactyly, Short toe, Camptodactyly of finger, Intrauterine ... |
ORPHA:1327 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy |
OMIM:601382 |
| Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Clinodactyly, Cerebral atrophy, Macrocephaly, Genu valgum, Hypop... |
ORPHA:166024 |
| Anophthalmia Plus Syndrome |
|
Deviation of finger, Anophthalmia, Spina bifida |
ORPHA:1104 |
| Microphthalmia/Coloboma 6 |
|
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos |
OMIM:613703 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Failure to thrive, Decreased body weight |
ORPHA:99852 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Focal cortical dysplasia, Cardiomyopathy, Hypoplasia of the brainst... |
OMIM:613155 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Short thumb, Microcephaly, Brachydactyly, Short stature, Short middle phalanx of ... |
ORPHA:391646 |
| Lissencephaly 8 |
|
Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Hypo... |
OMIM:617255 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polymicrogyria, Polydactyly, Progressive macrocephaly, Hydrocephalus, Cavum septum pellucidum, Mi... |
OMIM:602501 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ... |
OMIM:300863 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum, Short stature |
OMIM:618123 |
| Brachydactyly Type B |
|
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... |
ORPHA:93383 |
| 2Q24 Microdeletion Syndrome |
|
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... |
ORPHA:1617 |
| Hartsfield Syndrome |
|
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth ... |
ORPHA:2117 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Intrauterine growth retardation, Short thumb, Microphthalmia |
OMIM:609054 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida |
ORPHA:2476 |
| Hydrolethalus |
|
Micromelia, Absent septum pellucidum, Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, P... |
ORPHA:2189 |
| Septooptic Dysplasia |
|
Optic disc hypoplasia, Short finger, Absent septum pellucidum, Polydactyly, Agenesis of corpus ca... |
OMIM:182230 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ... |
OMIM:603546 |
| Microphthalmia/Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Schisis Association |
|
Micromelia, Encephalocele, Microcephaly, Spina bifida, Anencephaly |
ORPHA:63862 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
| Brachydactyly Type B2 |
|
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... |
ORPHA:140908 |
| Bardet-Biedl Syndrome 22 |
|
Microcephaly, Postaxial foot polydactyly, Macrocephaly, Polydactyly |
OMIM:617119 |
| Microphthalmia, Syndromic 8 |
|
Microcephaly, Premature skin wrinkling, Split foot, Microphthalmia |
OMIM:601349 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot |
OMIM:313350 |
| Cofs Syndrome |
|
Cerebral cortical atrophy, Camptodactyly of finger, Cerebral calcification, Intrauterine growth r... |
ORPHA:1466 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Micromelia, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Intr... |
ORPHA:1908 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Short stature, Microcephaly, Growth delay, Microphthalmia |
ORPHA:2528 |
| Czeizel-Losonci Syndrome |
|
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Single transverse palmar... |
ORPHA:2437 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Type II lissencephaly, Hydrocephalus, Cerebellar hypoplasia, Microphthalmia |
OMIM:614830 |
| Acropectoral Syndrome |
|
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly |
OMIM:605967 |
| Synpolydactyly 2 |
|
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly |
OMIM:615984 |
| Curry-Jones Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Agenesis of corpus cal... |
ORPHA:1553 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microcephaly, Growth delay, Microphthalmia |
OMIM:278780 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin... |
ORPHA:93409 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:615113 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia, Microcephaly, Abnormal morphology of the radius |
ORPHA:3469 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Macrocephaly, Syndactyly, Tapered finger |
OMIM:618725 |
| Fountain Syndrome |
|
Short distal phalanx of finger, Erythema, Coarse metaphyseal trabecularization, Macrocephaly, Abn... |
ORPHA:3219 |
| Temtamy Syndrome |
|
Short toe, Aplasia/Hypoplasia of the corpus callosum, Brachydactyly, Macrocephaly, Microphthalmia... |
ORPHA:1777 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Microphthalmia, Growth delay |
OMIM:274270 |
| Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Joint contracture of the hand, Clinodactyly, Radial deviation of finger... |
OMIM:136760 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Type II lissencephaly, Macrocephaly at birth, Hydrocephalus, Microphthalmia |
ORPHA:324416 |
| Femur-Fibula-Ulna Complex |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... |
ORPHA:2019 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... |
ORPHA:370010 |
| Carpenter Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu... |
ORPHA:65759 |
| Aminopterin Syndrome Sine Aminopterin |
|
Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Intrauterine growth r... |
OMIM:600325 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Tricuspid regurgitation, ... |
ORPHA:1120 |
| Non-Syndromic Genetic Deafness |
|
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... |
ORPHA:87884 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Hypoplasia of the corpus ... |
OMIM:175700 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypoplastic iliac w... |
ORPHA:163966 |
| Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short thumb, Short 1st metacarpal, Intrauterine growth retardation, Pallor, Absent ... |
OMIM:609053 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Joint contracture of the hand, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, ... |
OMIM:225280 |
| Braddock-Carey Syndrome 2 |
|
Microcephaly, Clinodactyly, Microphthalmia |
OMIM:619981 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
| Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly |
OMIM:615397 |
| Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Microphthalmia, Absent septum pellucidum, Metatarsus ... |
ORPHA:899 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Sandal gap, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Pulmona... |
OMIM:300887 |
| Neu-Laxova Syndrome 2 |
|
Toe syndactyly, Finger syndactyly, Intrauterine growth retardation, Cerebellar hypoplasia, Microc... |
OMIM:616038 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Oligodactyly, Aniridia, Absent hand, Split hand |
ORPHA:2440 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
| Long Qt Syndrome 8 |
|
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... |
OMIM:618447 |
| 17Q12 Microduplication Syndrome |
|
Cortical dysplasia, Toe syndactyly, Finger syndactyly, Microphthalmia |
ORPHA:261272 |
| Pelvis-Shoulder Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Short... |
OMIM:169550 |
| Hypomelanosis Of Ito |
|
Radial deviation of finger, Clinodactyly, Cerebral atrophy, Microcephaly, Hand polydactyly, Macro... |
OMIM:300337 |
| Trisomy 1Q |
|
Toe syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Anophthalmia, Agenesis of cor... |
ORPHA:261344 |
| Adams-Oliver Syndrome 3 |
|
Short distal phalanx of finger, Short 5th toe, 2-3 toe syndactyly, Microcephaly, Short metatarsal... |
OMIM:614814 |
| Proximal Symphalangism |
|
Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact... |
ORPHA:3250 |
| Warburg Micro Syndrome 1 |
|
Cerebellar vermis hypoplasia, Cerebral atrophy, Overlapping toe, Hypoplasia of the corpus callosu... |
OMIM:600118 |
| Brachydactyly, Type B2 |
|
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... |
OMIM:611377 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Short stature, Growth delay, Pallor, Syndactyly |
OMIM:615631 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Microphthalmia/Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Microcephaly, Broad palm, Spina bifida, Macrocephaly |
OMIM:620439 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Facial Clefting, Oblique, 1 |
|
Deep palmar crease, Microphthalmia |
OMIM:600251 |
| Monosomy 5P |
|
Small hand, Finger syndactyly, Intrauterine growth retardation, Microcephaly, Short stature |
ORPHA:281 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot polydactyly, Elbow disloc... |
ORPHA:1106 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
| Laurin-Sandrow Syndrome |
|
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... |
ORPHA:2378 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cerebral atrophy, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Pachygyria, Short stature,... |
OMIM:251270 |
| Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ... |
OMIM:617927 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Clinodactyly, Hypoplasia of the corpus callosum, Microcephaly, Cerebral white matter hypoplasia, ... |
OMIM:619091 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Occipital cortical atrophy, Anophthalmia, Hypoplasia of the pons, Hypoplasia of the corpus callosum |
ORPHA:411986 |
| Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Microcephaly, Microphthalmia, Short stature, Holoprosencephaly |
OMIM:147250 |
| Trisomy 13 |
|
Abnormal pelvic girdle bone morphology, Ectrodactyly, Intrauterine growth retardation, Bilateral ... |
ORPHA:3378 |
| Microphthalmia, Syndromic 13 |
|
Short stature, Microcephaly, Microphthalmia |
OMIM:300915 |
| Fanconi Anemia, Complementation Group R |
|
Absent thumb, Radial dysplasia, Microcephaly, Hydrocephalus, Microphthalmia, Growth delay, Tether... |
OMIM:617244 |
| Microphthalmia/Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615982 |
| Cyclic Vomiting Syndrome |
|
Microcephaly, Pallor, Growth delay, Cardiomyopathy |
OMIM:500007 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Gordon Syndrome |
|
Short stature, Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger |
ORPHA:376 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Rhizomelia, Anophthalmia, 2-3 toe syndactyly, Macrocephaly, Microphthalmia, 3-4 finger syndactyly |
OMIM:615877 |
| Primary Lateral Sclerosis, Juvenile |
|
Cerebral cortical atrophy, Pallor, Abnormal upper motor neuron morphology |
OMIM:606353 |
| Curry-Jones Syndrome |
|
Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot polydactyly, Polymicrog... |
OMIM:601707 |
| Neuralgic Amyotrophy |
|
Redundant neck skin, Syndactyly, Scapular winging, Short stature, Upper limb amyotrophy |
ORPHA:2901 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
| Pierpont Syndrome |
|
Abnormal cortical gyration, Short toe, Prominent fingertip pads, Short finger, Excessive wrinklin... |
ORPHA:487825 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Joubert Syndrome 40 |
|
Postaxial polydactyly, Optic nerve hypoplasia |
OMIM:619582 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,... |
ORPHA:1350 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Slender long bone, Flared metaphysis, Camptodactyly of finger, Elbow flexion contracture, Polymic... |
OMIM:610758 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Fatco Syndrome |
|
Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology... |
ORPHA:2492 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Leukoencephalopathy, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Hypoplasia of... |
OMIM:615181 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Split hand, Split foot |
DECIPHER:46 |
| Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Hydrocephalus, Postaxial hand p... |
OMIM:607361 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... |
ORPHA:2141 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Syringomyelia, Hydrocephalus,... |
OMIM:207950 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Camptodactyly of finger, Intrauterine growth retardation, Microcephaly, Microphthalmia, Rocker bo... |
OMIM:610756 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Intrauterine growth retardation, Trident pelvis, Agenesis of corpus call... |
OMIM:614815 |
| Craniorachischisis |
|
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly |
ORPHA:63260 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Abnormally large globe, Polymicrogyria, Macrocephaly, Mitral regurgitation, Hypoplasia of the cor... |
OMIM:603387 |
| Cat-Eye Syndrome |
|
Short stature, Intrauterine growth retardation, Microphthalmia, Hip dysplasia |
ORPHA:195 |
| Periventricular Nodular Heterotopia 1 |
|
Clinodactyly, Short finger, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebral he... |
OMIM:300049 |
| Pierpont Syndrome |
|
Short toe, Prominent fingertip pads, Short finger, Microcephaly, Deep palmar crease, Broad palm, ... |
OMIM:602342 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Holoprosencephaly, Grow... |
ORPHA:77298 |
| Joubert Syndrome 16 |
|
Encephalocele, Dandy-Walker malformation, Polydactyly |
OMIM:614465 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Short toe, Syndactyly |
OMIM:612581 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Down-sloping shoulders, Cubitus valgus, Microcephaly, Microphthalmia, Camptodactyly, Thin corpus ... |
OMIM:619694 |
| Retinitis Pigmentosa 51 |
|
Pallor, Polydactyly |
OMIM:613464 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus ca... |
OMIM:613153 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cerebral cortical atrophy, Intrauterine growth retardation, Microphthalmia, Hyperintensity of cer... |
ORPHA:48431 |
| Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Myelomeningocele, Cerebral calcification, Intrauterine growth retardation, Micro... |
ORPHA:1393 |
| Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Brachydactyly, Mac... |
ORPHA:3210 |
| Moebius Syndrome |
|
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... |
OMIM:157900 |
| Nail-Patella Syndrome |
|
Triceps aplasia, Elongated radius, Patellar hypoplasia, Hypoplastic radial head, Biceps aplasia, ... |
OMIM:161200 |
| Familial Focal Epilepsy With Variable Foci |
|
Hemimegalencephaly, Focal cortical dysplasia, Pallor, Polymicrogyria |
ORPHA:98820 |
| Focal Dermal Hypoplasia |
|
Erythema, Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal epiph... |
ORPHA:2092 |
| Congenital Toxoplasmosis |
|
Cerebral calcification, Intrauterine growth retardation, Microcephaly, Hydrocephalus, Microphthalmia |
ORPHA:858 |
| Adams-Oliver Syndrome 2 |
|
Cerebral atrophy, Polymicrogyria, Absent distal phalanges, Single transverse palmar crease, Cereb... |
OMIM:614219 |
| Cerebrooculonasal Syndrome |
|
Anophthalmia, Postaxial hand polydactyly |
ORPHA:66625 |
| Laurin-Sandrow Syndrome |
|
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... |
OMIM:135750 |
| Bresek Syndrome |
|
Intrauterine growth retardation, Microcephaly, Hydrocephalus, Postaxial hand polydactyly, Microph... |
ORPHA:85284 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Congestive heart failure, Pallor, Paroxysmal atrial tachycardia, Short stature, Cardiac arrest |
ORPHA:49827 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Microcephaly, Intrauterine growth retardation, Hypoplastic ischia, Polydactyly |
OMIM:616910 |
| Mosaic Trisomy 9 |
|
Elbow dislocation, Finger clinodactyly, Camptodactyly of finger, Micromelia, Intrauterine growth ... |
ORPHA:99776 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Agenesis of corpus cal... |
ORPHA:93267 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Umbilical hernia, Joint contracture of the 5th finger, Joint contracture of the 4th f... |
OMIM:618914 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Broad hallux, Umbilical hernia, Elbow flexion contracture, Long hallux, Arachnodactyly, Diffuse c... |
OMIM:613776 |
| Nephronophthisis 15 |
|
Cerebellar vermis hypoplasia, Polydactyly |
OMIM:614845 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Postnatal growth retardation, Polydactyly, Short stature, Clinodactyly of the 5th finger, Relativ... |
ORPHA:231140 |
| Trisomy 18 |
|
Deviation of finger, Growth delay, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus call... |
ORPHA:3380 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... |
ORPHA:3329 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... |
OMIM:246570 |
| Camptobrachydactyly |
|
Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy... |
ORPHA:1319 |
| Microcephaly-Micromelia Syndrome |
|
Absent thumb, Short tibia, Micromelia, Aplasia/Hypoplasia of the corpus callosum, Oligodactyly, I... |
OMIM:251230 |
| Grange Syndrome |
|
Aortic regurgitation, Hypertension, Short palm, Syndactyly |
ORPHA:79094 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Aplastic clavicle, Abnormal cortical gyration, Elbow dislocation, Short thumb, Ectrodactyly, Olig... |
ORPHA:2538 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ... |
ORPHA:2633 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... |
OMIM:274000 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad thumb, Overlapping toe, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Bro... |
ORPHA:508498 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph... |
OMIM:617102 |
| Dermatitis, Atopic |
|
Dry skin, Facial erythema, Pallor |
OMIM:603165 |
| Cerebrooculonasal Syndrome |
|
Cerebellar vermis hypoplasia, Postnatal growth retardation, Encephalocele, Hypoplasia of the corp... |
OMIM:605627 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Preaxial polydactyly, Overlapping toe, Overlapping fingers, Intrauterine growth retardation, Hypo... |
OMIM:618142 |
| Spontaneous Periodic Hypothermia |
|
Arrhythmia, Pallor, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:29822 |
| Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Clinodactyly, Macrocephaly, Genu valgum, Hypoplasia of the corpus callosum,... |
OMIM:607131 |
| Vacterl With Hydrocephalus |
|
Intrauterine growth retardation, Anophthalmia, Hypoplasia of the radius, Spina bifida, Microphtha... |
ORPHA:3412 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus ca... |
OMIM:615249 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment |
OMIM:617519 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
| Joubert Syndrome 14 |
|
Cerebellar vermis hypoplasia, Growth delay, Hypoplasia of the brainstem, Agenesis of cerebellar v... |
OMIM:614424 |
| Meckel Syndrome |
|
Postaxial foot polydactyly, Aplasia/Hypoplasia of the corpus callosum, Preaxial hand polydactyly,... |
ORPHA:564 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Clinodactyly, Mitral regurgitation, Brachydactyly, Osteolysis involvi... |
ORPHA:88630 |
| Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Short distal phalanx of the thumb, Calcification of falx cerebri, Microphthalmia, Po... |
OMIM:109400 |
| Myopathic Ehlers-Danlos Syndrome |
|
Joint contracture of the hand, Shoulder flexion contracture, Elbow flexion contracture, Pallor, T... |
ORPHA:536516 |
| Orofaciodigital Syndrome Viii |
|
Short stature, Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Sclerosteosis |
|
Curved distal phalanges of the hand, Finger syndactyly, Diaphyseal undertubulation, 2-3 finger sy... |
ORPHA:3152 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hypertrophic cardiomyopathy, Growth delay, Pallor |
OMIM:613561 |
| 14Q22Q23 Microdeletion Syndrome |
|
Toe syndactyly, Finger syndactyly, Optic nerve aplasia, Short 5th metacarpal, Bilateral single tr... |
ORPHA:264200 |
| Bardet-Biedl Syndrome 9 |
|
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol... |
OMIM:615986 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Cousin Syndrome |
|
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Dis... |
OMIM:260660 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... |
OMIM:601455 |
| Caudal Duplication |
|
Myelomeningocele, Spinal cord lesion, Spina bifida |
ORPHA:1756 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Small cerebral cortex, Optic nerve hypoplasia, Intrauterine growth retardation, Hypoplasia of the... |
OMIM:617914 |
| Sandestig-Stefanova Syndrome |
|
Clinodactyly, Intrauterine growth retardation, Bilateral single transverse palmar creases, Hypopl... |
OMIM:618804 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Sh... |
OMIM:113000 |
| Adams-Oliver Syndrome |
|
Short distal phalanx of finger, Gastrointestinal hemorrhage, Finger syndactyly, Absent hand, Port... |
ORPHA:974 |
| Meckel Syndrome, Type 10 |
|
Postaxial foot polydactyly, Occipital encephalocele, Postaxial polydactyly, Cerebellar hypoplasia... |
OMIM:614175 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Microphtha... |
OMIM:614833 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Spina bifida |
ORPHA:2345 |
| Congenital Rubella Syndrome |
|
Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Microcephaly, Microphthalmia, Sh... |
ORPHA:290 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Cerebral atrophy, Postaxial polydactyly,... |
OMIM:258860 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Severe short stature, Palmoplantar keratoderma, Short thumb, Finger syndactyly, Camptodactyly of ... |
ORPHA:2251 |
| Terminal Osseous Dysplasia |
|
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Cam... |
OMIM:300244 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... |
ORPHA:93322 |
| Neu-Laxova Syndrome 1 |
|
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Agenesis of corpu... |
OMIM:256520 |
| Camptobrachydactyly |
|
Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly |
OMIM:114150 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Aplasia/Hypoplasia of... |
ORPHA:1926 |
| Bardet-Biedl Syndrome 16 |
|
Short stature, Polydactyly |
OMIM:615993 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Intrauterine growth retardation, Aplasia/Hypoplasia of the thumb, Microcephaly, Hypoplasia of the... |
ORPHA:1352 |
| Boomerang Dysplasia |
|
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... |
ORPHA:1263 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Complete duplication of proximal pha... |
ORPHA:363417 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Secondary microcephaly, Redundant neck skin, Microphthalmia, Abnormality... |
OMIM:618652 |
| Mohr-Tranebjaerg Syndrome |
|
Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, Abnorma... |
ORPHA:52368 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia |
ORPHA:276556 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Ulnar deviation of finger, Camptodactyly of finger, Tricuspid regurgitation, Umbilical hernia, An... |
ORPHA:1101 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Symphalangism affecting the phalanges of the hand, Camptodactyly of finger |
ORPHA:2547 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Toe syndactyly, Finger syndactyly, Polymicrogyria, Cerebral ischemia, Arrhythmia, Telangiectasia ... |
ORPHA:60040 |
| Iniencephaly |
|
Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Syringomyelia, Talipes equinovaru... |
ORPHA:63259 |
| Orofaciodigital Syndrome Xvii |
|
Clinodactyly, Partial duplication of thumb phalanx, Short middle phalanx of the 2nd finger, Polyd... |
OMIM:617926 |
| Hb Bart'S Hydrops Fetalis |
|
Pallor, Hydrocephalus, Pericarditis, Congestive heart failure |
ORPHA:163596 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
| Evans Syndrome |
|
Epistaxis, Syncope, Pallor, Petechiae |
ORPHA:1959 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Abnormality of the wrist, Abnormal thumb morphology, Delayed puberty, Short st... |
ORPHA:1825 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, Small hand, Absent distal phalanges, 2-5 finger cutaneous syndactyly |
OMIM:619339 |
| Ring Chromosome 21 Syndrome |
|
Small hand, Clinodactyly, Narrow palm, Microcephaly, Short stature, Holoprosencephaly, Syndactyly |
ORPHA:1445 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Short distal phalanx of finger, Finger syndactyly, Camptodactyly of finger, Arachnodactyly, Micro... |
ORPHA:2994 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... |
ORPHA:1215 |
| Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Micromelia, Polymicrogyria, Cerebral calcification, Intrauterine grow... |
ORPHA:2671 |
| Microphthalmia, Syndromic 5 |
|
Short stature, Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
| Temtamy Syndrome |
|
Aortic regurgitation, Microphthalmia, Agenesis of corpus callosum, Talipes equinovarus, Brachydac... |
OMIM:218340 |
| Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly, Spina bifida, Lissencephaly |
ORPHA:99742 |
| Garg-Mishra Progeroid Syndrome |
|
Slender long bone, Slender metacarpals, Secondary microcephaly, Postnatal growth retardation, Mic... |
OMIM:620601 |
| Charlie M Syndrome |
|
Finger syndactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Brachydactyly |
ORPHA:1406 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Short 5th finger, Ectrodactyly, Small placenta, Postnatal growth retardation, Intrauterine growth... |
ORPHA:397590 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia |
ORPHA:276575 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syringomyelia, Congenital bilateral hip dislocation, Cerebral cortical atrophy, Syndactyly |
ORPHA:404451 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Polydactyly, Microcephaly, Brachydactyly, Macrocephaly |
ORPHA:313781 |
| Filippi Syndrome |
|
2-4 toe syndactyly, Finger clinodactyly, Postnatal growth retardation, Intrauterine growth retard... |
OMIM:272440 |
| Hallermann-Streiff Syndrome |
|
Slender long bone, Dry skin, Proportionate short stature, Telangiectasia, Microcephaly, Abnormali... |
OMIM:234100 |
| Weaver Syndrome |
|
Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Redundant skin, Talipes equi... |
ORPHA:3447 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Cerebral atrophy, Abnormal globus pallidus morphology, Pallor, Hypoplasia of the corpus callosum,... |
ORPHA:439218 |
| 1Q21.1 Microdeletion Syndrome |
|
Broad thumb, Toe syndactyly, Intrauterine growth retardation, Clinodactyly of the 5th finger, Age... |
ORPHA:250989 |
| Acrofrontofacionasal Dysostosis 2 |
|
Broad thumb, Broad hallux, Redundant neck skin, Microcephaly, Hand polydactyly, Short stature, Sy... |
OMIM:239710 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia |
ORPHA:276580 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Joint contracture of the hand, Elbow flexion contracture, Basal ganglia calcification, Second met... |
OMIM:214150 |
| Bardet-Biedl Syndrome 19 |
|
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Hypoplasia of the corpus callosum, Postax... |
OMIM:615996 |
| Focal Dermal Hypoplasia |
|
Toe syndactyly, Anophthalmia, Agenesis of corpus callosum, Telangiectasia, Microphthalmia, Foot p... |
OMIM:305600 |
| Baraitser-Winter Syndrome 2 |
|
Pachygyria, Secondary microcephaly, Agenesis of corpus callosum, Microphthalmia, Short stature, L... |
OMIM:614583 |
| Martsolf Syndrome 1 |
|
Broad femoral neck, Short toe, Cardiomyopathy, Congestive heart failure, Slender ulna, Avascular ... |
OMIM:212720 |
| Monosomy 18P |
|
Microcephaly, Brachydactyly, Microphthalmia, Short stature, Holoprosencephaly, Hypertension |
ORPHA:1598 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Polydactyly |
OMIM:616490 |
| Warburg Micro Syndrome 2 |
|
Global brain atrophy, Polymicrogyria, Secondary microcephaly, Postnatal growth retardation, Overl... |
OMIM:614225 |
| Non-Functioning Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... |
ORPHA:94080 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Sandal gap, Tapered finger |
ORPHA:1438 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Holoprosencephaly |
|
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Branchial anomaly, Encephalocele, A... |
ORPHA:2162 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Deep palmar crease, Cutis laxa, Brachydactyly, Genu varum, Short stature, Clinodactyly of the 5th... |
OMIM:619451 |
| Mosaic Trisomy 1 |
|
Hand clenching, Toe syndactyly, Broad 2nd toe, Agenesis of corpus callosum, Arachnodactyly, 2-3 f... |
ORPHA:1692 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pallor |
ORPHA:276608 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Diffuse white matter abnormalities, Occipital encephalocele, Hypoplasia of the pons, Cardiomyopat... |
ORPHA:370959 |
| 3P25.3 Microdeletion Syndrome |
|
Broad thumb, Broad hallux, Overlapping toe, Postaxial polydactyly, Cerebral white matter atrophy,... |
ORPHA:435638 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Secondary microcephaly, Cerebellar hypoplasia, Microphthalmia |
OMIM:613730 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus, Redundant skin, Finger syndactyly, Clinodactyly |
ORPHA:251046 |
| 3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Aniridia, Camptodactyly of toe, Microcephaly, Macrocephaly, Microphth... |
ORPHA:251038 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Hip dislocation, Shallow acetabular fossae, Radial bowing, Petechiae, Ulnar bowing, Limited prona... |
OMIM:605432 |
| Ritscher-Schinzel Syndrome 3 |
|
Cerebellar vermis hypoplasia, Short 1st metacarpal, Relative macrocephaly, Short first metatarsal... |
OMIM:619135 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
| Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Pfeiffer Syndrome Type 1 |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hallux varus, Sh... |
ORPHA:93258 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Polydactyly, Hydrocephalus, Macrocephaly, Agenesis of cerebellar vermis, Short... |
ORPHA:59315 |
| Orofaciodigital Syndrome Type 10 |
|
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... |
ORPHA:2756 |
| Matthew-Wood Syndrome |
|
Intrauterine growth retardation, Anophthalmia, Microphthalmia |
ORPHA:2470 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short stature, Brachydactyly, Short long bone, Polydactyly |
OMIM:613819 |
| Oculo-Palato-Cerebral Syndrome |
|
Small hand, Global brain atrophy, Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth ... |
ORPHA:2714 |
| Gracile Bone Dysplasia |
|
Slender long bone, Flared metaphysis, Aniridia, Brachydactyly, Hydrocephalus, Microphthalmia, Sho... |
OMIM:602361 |
| Cockayne Syndrome Type 2 |
|
Intrauterine growth retardation, Anophthalmia, Subcortical white matter calcifications |
ORPHA:90322 |
| Fanconi Anemia |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Microphthalmia, Hip dislocation... |
ORPHA:84 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Broad thumb, Prominent fingertip pads, Genu valgum, Arachnodactyly, Postaxial polydactyly, Microc... |
OMIM:619721 |
| Joubert Syndrome 7 |
|
Abnormal corpus callosum morphology, Hypoplasia of the brainstem, Genu valgum, Encephalocele, Pos... |
OMIM:611560 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pallor, Microcephaly, Delayed puberty, Scapular winging, Growth delay |
OMIM:600462 |
| Craniofrontonasal Dysplasia |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Hypoplasia of the corpus callosum, Down-s... |
ORPHA:1520 |
| Houge-Janssens Syndrome 2 |
|
Broad hallux, Deviation of the 5th finger, Hypoplasia of the corpus callosum, Agenesis of corpus ... |
OMIM:616362 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Severe short stature, Abnormal epiphysis morpholog... |
ORPHA:85167 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Postnatal growth retardation, Intrauterine growth retardation, Microcephaly, Abnormal palmar derm... |
ORPHA:2728 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Hypoplasia of the brainstem, Single transverse palmar crease, Redundant neck ski... |
OMIM:236500 |
| Rubinstein-Taybi Syndrome 2 |
|
Broad thumb, Prominent fingertip pads, Short 5th toe, Broad hallux, Short first metatarsal, Micro... |
OMIM:613684 |
| Fanconi Anemia, Complementation Group S |
|
Clinodactyly, Microcephaly, Microphthalmia, Short stature, Proximal placement of thumb |
OMIM:617883 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Cerebellar hypoplasia, Dilated cardiomyopathy, Reduced systolic function, Microphthalmia |
OMIM:618805 |
| Sirenomelia |
|
Sirenomelia, Aplasia/Hypoplasia of the radius, Spina bifida |
ORPHA:3169 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,... |
ORPHA:2788 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microcephaly, Global brain atrophy, Growth delay, Microphthalmia |
OMIM:308350 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor |
ORPHA:324575 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Postnatal growth retardation, Overlapping toe, Intrauterine growth retardation, Postaxial polydac... |
OMIM:613792 |
| Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
| Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Bilateral microphthalmos |
ORPHA:77299 |
| Holt-Oram Syndrome |
|
Atrioventricular block, Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent ... |
ORPHA:392 |
| Orofaciodigital Syndrome Ii |
|
Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty... |
OMIM:252100 |
| Marden-Walker Syndrome |
|
Joint contracture of the hand, Inferior cerebellar vermis hypoplasia, Hypoplasia of the brainstem... |
OMIM:248700 |
| Limb Body Wall Complex |
|
Broad hallux, Myelomeningocele, Aplasia of the proximal phalanges of the hand, Cutaneous finger s... |
ORPHA:2369 |
| Joubert Syndrome 33 |
|
Macrocephaly, Syndactyly |
OMIM:617767 |
| Joubert Syndrome 20 |
|
Postaxial polydactyly, 4-5 toe syndactyly |
OMIM:614970 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Microphthalmia, Encephalocele... |
OMIM:614643 |
| Frontorhiny |
|
Cranium bifidum occultum, Finger clinodactyly, Aplasia/Hypoplasia of the corpus callosum, Camptod... |
ORPHA:391474 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Ectodermal Dysplasia With Impaired Intellectual Development And Syndactyly |
|
2-3 toe syndactyly, Dry skin, 3-4 finger syndactyly |
OMIM:600906 |
| Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Shor... |
OMIM:619217 |
| Meckel Syndrome 14 |
|
Postaxial foot polydactyly, Occipital encephalocele, Tricuspid regurgitation, Mitral regurgitatio... |
OMIM:619879 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Short thumb, Overlapping toe, Distally placed thumb, Encephalocele, Single transverse palmar crea... |
OMIM:619148 |
| Fanconi Anemia, Complementation Group E |
|
Absent thumb, Short thumb, Microphthalmia, Microcephaly, Anemic pallor, Absent radius, Short stat... |
OMIM:600901 |
| Campomelic Dysplasia |
|
Delayed epiphyseal ossification, Hypoplastic scapulae, Shortening of all phalanges of fingers, Hy... |
OMIM:114290 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Talipes equinovar... |
OMIM:609945 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Macrocephaly, Microphthalmia, Cavum septum pellucidum, Short stature, Clinodactyly of the 5th fin... |
OMIM:617306 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Cartilage-Hair Hypoplasia |
|
Small hand, Bowing of the long bones, Aplasia/Hypoplasia affecting the eye, Diaphyseal undertubul... |
ORPHA:175 |
| Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Hand clenching, 2-3 toe cutaneous syndactyly, Sandal gap, Broad hallux, Um... |
OMIM:300166 |
| Jacobsen Syndrome |
|
Aortic valve stenosis, Toe clinodactyly, Toe syndactyly, Growth delay, Finger syndactyly, Short t... |
ORPHA:2308 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Microcephaly, Premature skin wrinkling, Syndactyly |
ORPHA:1942 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Microcephaly, Syndactyly |
OMIM:615284 |
| Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
| Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... |
ORPHA:137675 |
| Craniodigital-Intellectual Disability Syndrome |
|
Short stature, Spina bifida occulta, Finger syndactyly |
ORPHA:1514 |
| 2Q31.1 Microdeletion Syndrome |
|
Cerebral cortical atrophy, Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger... |
ORPHA:251014 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Short stature, Microcephaly, Unilateral microphthalmos, Bilateral microphthalmos |
OMIM:619318 |
| Pelger-Huet Anomaly |
|
Short 3rd metacarpal, Upper limb undergrowth, Umbilical hernia, Short 5th metacarpal, Polydactyly... |
OMIM:169400 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Secondary microcephaly, Pallor, Cerebellar hypoplasia, Cerebral atrophy |
OMIM:613839 |
| X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
| Heart And Brain Malformation Syndrome |
|
Hand clenching, Cerebellar vermis hypoplasia, Global brain atrophy, Cerebral atrophy, Camptodacty... |
OMIM:616920 |
| Baraitser-Winter Syndrome 1 |
|
Aortic valve stenosis, Postnatal growth retardation, Agenesis of corpus callosum, Microcephaly, D... |
OMIM:243310 |
| Joubert Syndrome 37 |
|
Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Postaxial polydactyly, Microphth... |
OMIM:619185 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Arachnodactyly, Microcephaly, Clinodactyly, Syndactyly |
OMIM:619092 |
| Monosomy 13Q14 |
|
Finger syndactyly, Intrauterine growth retardation, Hypoplasia of the corpus callosum, Aplasia/Hy... |
ORPHA:1587 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Broad proximal phalanges of the hand, Bilateral microphthalmos, Ethmoidal encephalocele, Short fo... |
OMIM:607597 |
| Limb-Mammary Syndrome |
|
Joint contracture of the hand, Hallux valgus, Split hand, Camptodactyly, Split foot, Syndactyly |
OMIM:603543 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Laurence-Moon Syndrome |
|
Short stature, Abnormality of the hand, Polydactyly |
OMIM:245800 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Synostosis of carpal bones, Bilateral single transverse palmar creases, Arrhythmia, Microphthalmi... |
ORPHA:3191 |
| Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Broad thumb, Postnatal growth retardation, Advanced ossification of carpal ... |
OMIM:615777 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Microphthalmia, Holoprose... |
OMIM:146510 |
| Joubert Syndrome 15 |
|
Exencephaly, Preaxial polydactyly |
OMIM:614464 |
| Dravet Syndrome |
|
Global brain atrophy, Pallor, Tibial torsion |
ORPHA:33069 |
| Refsum Disease |
|
Abnormal epiphysis morphology, Cardiomyopathy, Dry skin, Short metacarpal, Microphthalmia, Hammer... |
ORPHA:773 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
| Microphthalmia, Syndromic 6 |
|
Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Toe syndactyly, Finger syndacty... |
OMIM:607932 |
| Fanconi Anemia, Complementation Group A |
|
Absent thumb, Short thumb, Microphthalmia, Microcephaly, Anemic pallor, Absent radius, Short stat... |
OMIM:227650 |
| Duane-Radial Ray Syndrome |
|
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi... |
OMIM:607323 |
| Pseudotrisomy 13 Syndrome |
|
Postaxial foot polydactyly, Polymicrogyria, Encephalocele, Agenesis of corpus callosum, 2-3 toe s... |
OMIM:264480 |
| Triploidy |
|
Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth retardation, Hy... |
ORPHA:3376 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Broad hallux, Hypoplasia of the corpus callosum, Single transverse palmar crease, Microcephaly, M... |
OMIM:614105 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik... |
OMIM:605282 |
| Roberts Syndrome |
|
Synostosis of carpal bones, Finger syndactyly, Postnatal growth retardation, Patellar aplasia, Bi... |
ORPHA:3103 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Clinodactyly of the 2nd finger, Diaphyseal undertubulation, Finger joint hypermobility, Dislocate... |
OMIM:620663 |
| Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Umbilical hernia, Abnormal... |
ORPHA:261318 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ... |
ORPHA:1788 |
| Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Postnatal growth retardation, Microphthalmia, Micro... |
OMIM:304050 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor, Congestive heart failure |
ORPHA:90037 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Small hand, Postnatal growth retardation, Hypoplasia of the corpus callosum, Microcephaly, Severe... |
OMIM:241410 |
| Kapur-Toriello Syndrome |
|
Joint contracture of the hand, Short thumb, Camptodactyly of finger, Polymicrogyria, Overlapping ... |
OMIM:244300 |
| Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial ... |
OMIM:277170 |
| Femoral-Facial Syndrome |
|
Toe syndactyly, Humeroradial synostosis, Encephalocele, Limited elbow movement, Agenesis of corpu... |
OMIM:134780 |
| Joubert Syndrome 17 |
|
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly |
OMIM:614615 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Slender finger, Hemiatrophy of upper limb, Abnormal femoral neck/head morphology, Flattened epiph... |
ORPHA:163649 |
| Stevenson-Carey Syndrome |
|
Joint contracture of the hand, Microphthalmia, Hypoplasia of the corpus callosum, Cerebellar hypo... |
OMIM:611961 |
| Otopalatodigital Syndrome, Type Ii |
|
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Postnatal growth retardation, Ove... |
OMIM:304120 |
| Acro-Renal-Ocular Syndrome |
|
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r... |
ORPHA:959 |
| Fanconi Anemia, Complementation Group C |
|
Absent thumb, Short thumb, Intrauterine growth retardation, Microphthalmia, Microcephaly, Anemic ... |
OMIM:227645 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Postnatal growth retardation, Anophthalmia, Hypoplasia of the corpus callosu... |
OMIM:206900 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Brachydactyly, Sho... |
OMIM:615503 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Aortic valve stenosis, Spinal dysraphism, Mitral stenosis, Microcephaly, Short stature, Tethered ... |
OMIM:617660 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Toe syndactyly, Finger syndactyly, Cerebral calcification, Intrauterine growth retardation, Arach... |
ORPHA:73246 |
| Chromosome 17Q12 Duplication Syndrome |
|
Broad thumb, Brachydactyly, Microphthalmia |
OMIM:614526 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hydrocephalus, Microphthalmia |
OMIM:601794 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
| Oculofaciocardiodental Syndrome |
|
Short thumb, Genu valgum, Flexion contracture of the 4th toe, 2-3 toe syndactyly, Radioulnar syno... |
ORPHA:2712 |
| Acrofacial Dysostosis, Catania Type |
|
Small hand, Finger syndactyly, Intrauterine growth retardation, Bilateral single transverse palma... |
ORPHA:1786 |
| Congenital Sialidosis Type 2 |
|
Umbilical hernia, Abnormal EKG, Petechiae, Polydactyly, Telangiectasia, Hypoplasia of the fovea, ... |
ORPHA:93400 |
| Bardet-Biedl Syndrome 17 |
|
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly, Postaxial han... |
OMIM:615994 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Cerebral calcification, Hypoplasia of the corpus ca... |
OMIM:616538 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials |
OMIM:617523 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Rhizomelia, Metaphyseal cupping, Flared metaphysis, Short finger, Postnatal growth retardation, F... |
OMIM:608940 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Deviation of the 2nd finger, Finger syndactyly, Clinodactyly, Cerebral atrophy, Overlapping toe, ... |
ORPHA:464738 |
| Oculopalatocerebral Syndrome |
|
Short stature, Microcephaly, Microphthalmia |
OMIM:257910 |
| Filippi Syndrome |
|
Severe short stature, Finger syndactyly, Intrauterine growth retardation, Bilateral single transv... |
ORPHA:3255 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Bilateral single transverse palmar creases, Hand polydactyly, Brachydactyly, S... |
ORPHA:2377 |
| Rheumatic Fever |
|
Epistaxis, Erythema, Pallor, Arrhythmia, Myocarditis, Hemiballismus, Pericarditis |
ORPHA:3099 |
| Congenital Fibrinogen Deficiency |
|
Microphthalmia, Tachycardia, Internal hemorrhage, Clubbing of fingers |
ORPHA:335 |
| Methylcobalamin Deficiency Type Cble |
|
Clinodactyly, Hypoplasia of the brainstem, Postnatal growth retardation, Intrauterine growth reta... |
ORPHA:2169 |
| Ivic Syndrome |
|
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... |
OMIM:147750 |
| Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Short thumb, Preaxial hand polydactyly, Microphthalmia, Partial duplication of thum... |
OMIM:227646 |
| Holoprosencephaly 9 |
|
Abnormal cortical gyration, Alobar holoprosencephaly, Holoprosencephaly, Microphthalmia, Anophtha... |
OMIM:610829 |
| Cohen Syndrome |
|
Finger syndactyly, Sandal gap, Abnormal hip bone morphology, Genu valgum, Intrauterine growth ret... |
ORPHA:193 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Short thumb, Preaxial polydactyly, Postnatal growth retardation, Intraut... |
OMIM:192350 |
| Galloway-Mowat Syndrome 3 |
|
Cerebral atrophy, Pachygyria, Intrauterine growth retardation, Hypoplasia of the corpus callosum,... |
OMIM:617729 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Micromelia, Postaxial polydactyly, Brachydactyly, Hypoplasia of the radius, Rel... |
OMIM:617895 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Umbilical hernia, Congestive heart failure, Microcephaly, Microphthalmia, Short stature, Upper li... |
ORPHA:2505 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Cerebellar vermis hypoplasia, Prominent fingertip pads, Cerebral atrophy, Polymicrogyria, Overlap... |
OMIM:618494 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Severe short stature, Synostosis of carpal bones, Finger syndactyly, Moderate postnatal growth re... |
ORPHA:1005 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal cortical gyration, Cerebral atrophy, Dry skin, Intrauterine growth retardation, Hypoplas... |
OMIM:614576 |
| Schizophrenia 1 |
|
Short stature, Short proximal phalanx of the 4th toe, Syndactyly |
OMIM:181510 |
| Warburg Micro Syndrome 3 |
|
Cerebral cortical atrophy, Polymicrogyria, Secondary microcephaly, Postnatal growth retardation, ... |
OMIM:614222 |
| Senior-Loken Syndrome 8 |
|
Pallor, Polydactyly |
OMIM:616307 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Postaxial polydactyly type A, Broad hallux, 2-3 toe syndactyly, 2-3 finger syndactyly, Postaxial ... |
OMIM:217085 |
| 9Q21.13 Microdeletion Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Postnatal growth retardation, Polydactyly, Syringomyel... |
ORPHA:531151 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sandal gap, Cerebellar hypoplasia, Talipes equinovarus, Microcephaly, Microphthalmia, Short statu... |
OMIM:612530 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long... |
OMIM:614091 |
| Cloacal Exstrophy |
|
Abnormal tibia morphology, Myelomeningocele, Talipes equinovarus, Spina bifida, Abnormal fibula m... |
ORPHA:93929 |
| Pfeiffer Syndrome |
|
Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneous syndactyly, Fin... |
OMIM:101600 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Micromelia, Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2... |
OMIM:617866 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Brachydactyly, Short long bone |
OMIM:615633 |
| Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Pallor, Skin ulcer |
ORPHA:848 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 5th finger, Broad thumb, Sandal gap, Broad hallux, 2-3 toe syndactyly, Microcephaly, Cutane... |
OMIM:600987 |
| Poland Syndrome |
|
Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Syndactyly |
OMIM:173800 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Foot oligodactyly, Portal hypertension, Brachydactyly, Syndactyly |
OMIM:616589 |
| Microphthalmia, Lenz Type |
|
Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Aplasia/Hypoplasia of t... |
ORPHA:568 |
| American Trypanosomiasis |
|
Cardiomyopathy, Congestive heart failure, Pallor, Arrhythmia, Myocarditis |
ORPHA:3386 |
| Multiple Synostoses Syndrome 1 |
|
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... |
OMIM:186500 |
| Incontinentia Pigmenti |
|
Cerebral cortical atrophy, Erythema, Deviation of finger, Finger syndactyly, Skin ulcer, Congesti... |
ORPHA:464 |
| Ritscher-Schinzel Syndrome 2 |
|
Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ... |
OMIM:300963 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Dry skin, Cutis laxa, Microphthalmia |
OMIM:612379 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Finger syndactyly, Branchial cyst, Single transverse palmar crease, Microcephaly, Severe postnata... |
ORPHA:435938 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, 2-4 toe syndactyly, Sandal gap, Dry skin, Postaxial polydactyly, 2-3 toe syndactyly, ... |
OMIM:614099 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Micromelia, Finger syndactyly, Intrauterine growth retardation, Brachydactyly, Split hand, Short ... |
ORPHA:2145 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Macrodactyly, Spinal dysraphism, Tethered cord, Sandal gap |
OMIM:612918 |
| Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Toe syndactyly, Polymicrogyria, Periventricular leukomalacia, Encephalocel... |
OMIM:100300 |
| Fanconi Anemia, Complementation Group F |
|
Absent thumb, Short thumb, Intrauterine growth retardation, Microcephaly, 2-3 finger syndactyly, ... |
OMIM:603467 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Intrauterine growth retardation, Encephalocele, Agenesis of corpus callosum, Microphthalmia, Agen... |
ORPHA:228390 |
| Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Caudal appendage, Single transverse palmar crease, Talipes equinovarus, Mi... |
OMIM:272950 |
| 19Q13.11 Microdeletion Syndrome |
|
Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Dry skin, Intrau... |
ORPHA:217346 |
| Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
| Microphthalmia, Syndromic 9 |
|
Severe short stature, Bilateral microphthalmos, Intrauterine growth retardation, Anophthalmia, Sh... |
OMIM:601186 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cerebral atrophy, Single transverse palmar crease, Agenesis of corpus callosum, 2-3 toe syndactyl... |
OMIM:616449 |
| Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol... |
ORPHA:1323 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Severe short stature, Erythema, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid re... |
ORPHA:2556 |
| Endocrine-Cerebroosteodysplasia |
|
Sandal gap, Micromelia, Preaxial polydactyly, Focal polymicrogyria, Fibular bowing, Absent septum... |
OMIM:612651 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Syndactyly |
OMIM:613576 |
| Diamond-Blackfan Anemia 1 |
|
Hypoplastic ilia, Absent thumb, Short thumb, Congestive heart failure, Intrauterine growth retard... |
OMIM:105650 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tapered distal ... |
OMIM:609638 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Short tibia, Preaxial polydactyly, Relative macrocephaly, Hypoplastic pelvis, Encepha... |
OMIM:616300 |
| Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly, Microcephaly |
ORPHA:544254 |
| ERI1-related disease |
|
Tricuspid regurgitation, Slender metacarpals, Oligodactyly, Clinodactyly of the 5th finger, Limit... |
OMIM:608739 |
| Silver-Russell Syndrome 3 |
|
Small hand, Postnatal growth retardation, Short stature, Clinodactyly of the 5th finger, Relative... |
OMIM:616489 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Dermal translucency, Tricuspid regurgitation, Arachnodactyly, Bowing of the long bones, Microceph... |
OMIM:614437 |
| Cranioectodermal Dysplasia |
|
Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Bra... |
ORPHA:1515 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... |
OMIM:610532 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive |
OMIM:616881 |
| Mend Syndrome |
|
Aortic valve stenosis, Broad hallux, Overlapping toe, Overlapping fingers, Redundant neck skin, P... |
OMIM:300960 |
| Phakomatosis Pigmentokeratotica |
|
Arrhythmia, Hemiatrophy, Raynaud phenomenon, Spina bifida |
ORPHA:2874 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Single transverse palmar crease, Microphthalmia |
OMIM:619053 |
| Charge Syndrome |
|
Bifid femur, Umbilical hernia, Abnormal tibia morphology, Postnatal growth retardation, Intrauter... |
ORPHA:138 |
| Nance-Horan Syndrome |
|
Short metacarpal, Microphthalmia |
ORPHA:627 |
| 22Q11.2 Deletion Syndrome |
|
Hypertensive crisis, Gastrointestinal hemorrhage, Umbilical hernia, Intrauterine growth retardati... |
ORPHA:567 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... |
OMIM:613091 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Postnatal growth re... |
ORPHA:96334 |
| Fraser Syndrome 1 |
|
Abnormal cortical gyration, Bilateral microphthalmos, Myelomeningocele, Cutaneous finger syndacty... |
OMIM:219000 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Prominent fingertip pads, Joint contracture of the 5th finger, Single transverse palmar crease, 2... |
OMIM:620098 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Aarskog-Scott Syndrome |
|
Small hand, Finger syndactyly, Congestive heart failure, Camptodactyly of finger, Umbilical herni... |
ORPHA:915 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanx of the hallux, Postnatal growth retardation, Agenesis of corpus cal... |
ORPHA:3472 |
| Hoxha-Aliu Syndrome |
|
Short fifth metatarsal, Short distal phalanx of finger, Abnormal epiphysis morphology, Short 4th ... |
OMIM:620662 |
| Fetal Alcohol Syndrome |
|
Intrauterine growth retardation, Microcephaly, Microphthalmia, Short stature, Biparietal narrowing |
ORPHA:1915 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly, Brachydactyly, Microphthalmia |
OMIM:618727 |
| Cenani-Lenz Syndactyly Syndrome |
|
Broad hallux, Radioulnar synostosis, Pulmonic stenosis, Hypoplasia of the radius, Hypoplasia of t... |
OMIM:212780 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Bilateral microphthalmos, Severe postnatal growth retardation, Microcephaly, Microphthalmia, Clin... |
ORPHA:2399 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Toe syndactyly, Syndactyly |
OMIM:601163 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Camptodactyly of finger, Umbilical hernia, Intrauterine growth retardation, Mi... |
ORPHA:2311 |
| Idiopathic Pulmonary Hemosiderosis |
|
Heart murmur, Diffuse alveolar hemorrhage, Pallor |
ORPHA:99931 |
| Rubinstein-Taybi Syndrome 1 |
|
Broad thumb, Hypoplastic iliac wing, Postnatal growth retardation, Agenesis of corpus callosum, T... |
OMIM:180849 |
| Cockayne Syndrome Type 1 |
|
Basal ganglia calcification, Hypertension, Anophthalmia, Postnatal growth retardation |
ORPHA:90321 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Lissencephaly, Dilated cardiomyopathy, Polymicrogyria, Type II lissencephaly, Hypoplasia of the b... |
OMIM:253800 |
| Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Preaxial polydactyly, Agenesis of corpus callosum, Cerebellar hypop... |
OMIM:243605 |
| Primary Myelofibrosis |
|
Portal hypertension, Petechiae, Pallor, Ecchymosis, Purpura |
ORPHA:824 |
| White Forelock With Malformations |
|
Spina bifida occulta, Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:2475 |
| Acrootoocular Syndrome |
|
Small hypothenar eminence, Short toe, Sandal gap, Short finger, Decreased palmar creases, Microce... |
ORPHA:2980 |
| Galloway-Mowat Syndrome 1 |
|
Hand clenching, Joint contracture of the hand, Slender finger, Cerebral atrophy, Pachygyria, Seco... |
OMIM:251300 |
| Mend Syndrome |
|
Aortic valve stenosis, Broad hallux, Overlapping toe, Overlapping fingers, Hypoplasia of the corp... |
ORPHA:401973 |
| Oliver Syndrome |
|
Postaxial foot polydactyly, Short toe, Prominent fingertip pads, Camptodactyly of finger, Elbow f... |
ORPHA:2920 |
| Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Subdural hemorrhage, Clinodactyly, Intrauterine growth retardation,... |
OMIM:311900 |
| Alkuraya-Kucinskas Syndrome |
|
Hand clenching, Clinodactyly, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of the brains... |
OMIM:617822 |
| Suleiman-El-Hattab Syndrome |
|
Clinodactyly, Single transverse palmar crease, Polydactyly, Microcephaly, Brachydactyly |
OMIM:618950 |
| Familial Exudative Vitreoretinopathy |
|
Microcephaly, Vitreous hemorrhage, Retinal neovascularization, Macular telangiectasia, Microphtha... |
ORPHA:891 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Congenital hip dislocation, Hypoplastic scapulae, Erythema, Finger syndactyly, Aplasia/Hypoplasia... |
OMIM:308050 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:619260 |
| 19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Toe clinodactyly, Finger syndactyly, Sandal gap, Intrauterine growth retard... |
ORPHA:254346 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Intrauterine growth retardation, Pulmonic stenosis, Hydrocephalus, Dandy-W... |
OMIM:220210 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Broad distal phalanx of finger, Postaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydac... |
ORPHA:404440 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Severe short stature, Skin ulcer, Dry skin, Anophthalmia, Microcephaly, Scaling skin, Microphthalmia |
ORPHA:2526 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Hypoplasia of the brainstem, Type II lissencephaly, Microphthalmia, Encephalocele, Agenesis of co... |
OMIM:613150 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Clinodactyly, Bilateral microphthalmos, Umbilical hernia, Abnormality of the hand, Camptodactyly,... |
ORPHA:369891 |
| Pagod Syndrome |
|
Encephalocele, Microcephaly, Arrhythmia, Spina bifida, Short stature, Meningocele, Sudden cardiac... |
ORPHA:991 |
| Incontinentia Pigmenti |
|
Erythema, Pallor, Hypoplasia of the fovea, Microcephaly, Microphthalmia, Retinal hemorrhage, Shor... |
OMIM:308300 |
| Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Skin ulcer, Genu valgum, Pallor, High-output congestive heart failure, Bo... |
ORPHA:231226 |
| Blepharocheilodontic Syndrome 1 |
|
Cutaneous syndactyly, Clinodactyly, Neural tube defect |
OMIM:119580 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia |
OMIM:167730 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor |
OMIM:611590 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Abnormal corpus callosum morphology, Cerebral cortical atrophy, Toe syndactyly, Finger syndactyly... |
ORPHA:3224 |
| Rere-Related Neurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Postnatal growth retardation, Intrauterine growth retardation, Hypo... |
ORPHA:494344 |
| Bohring-Opitz Syndrome |
|
Short toe, Hypoplasia of the brainstem, Overlapping toe, Intrauterine growth retardation, Mesomel... |
OMIM:605039 |
| Micro Syndrome |
|
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosu... |
ORPHA:2510 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Abnormal basal ganglia morphology, Cerebellar vermis hypoplasia, Cone-sh... |
ORPHA:397715 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Fifth finger distal phalanx clinodactyly, Small hand, 2-4 toe cutaneous syndactyly, Broad long bo... |
OMIM:257850 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Postaxial polydactyly, Broad distal phalanx of finger, Sandal gap |
OMIM:615761 |
| Neurofibromatosis, Type I |
|
Tibial pseudarthrosis, Genu valgum, Spina bifida, Hydrocephalus, Macrocephaly, Short stature, Aqu... |
OMIM:162200 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Foot polydactyly, Aplasia/Hypoplasia of the thumb, Microcephaly, Hypoplasia of the radius, Hypopl... |
ORPHA:3186 |
| Pfeiffer Syndrome |
|
Broad thumb, Synostosis of carpal bones, Finger syndactyly, Brachydactyly, Hip dysplasia, Short s... |
ORPHA:710 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Aniridia, Palpitati... |
ORPHA:29072 |
| Joubert Syndrome 2 |
|
Abnormal corpus callosum morphology, Postaxial foot polydactyly, Hypoplasia of the brainstem, Enc... |
OMIM:608091 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Sandal gap, Micromelia, Broad hallux, Postnatal growth retardation, Single transverse palmar crea... |
OMIM:614800 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Abnormal pelvic girdle bone morphology, Rhizomelia, Postnatal growth retardation, Hemiatrophy, St... |
OMIM:302960 |
| Joubert Syndrome 21 |
|
Occipital encephalocele, Hypoplasia of the brainstem, Encephalocele, Anophthalmia, Hypoplasia of ... |
OMIM:615636 |
| Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
| Warburg Micro Syndrome 4 |
|
Cerebral cortical atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Severe post... |
OMIM:615663 |
| Lethal Acantholytic Erosive Disorder |
|
Hypovolemic shock, Cardiomyopathy, Intrauterine growth retardation, Camptodactyly of toe, 2-3 fin... |
ORPHA:158687 |
| Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Growth delay, Finger clinodactyly, Preaxial polydactyly, Aplasia/Hy... |
ORPHA:2754 |
| 2Q37 Microdeletion Syndrome |
|
Small hand, Toe syndactyly, Finger syndactyly, Umbilical hernia, Bilateral single transverse palm... |
ORPHA:1001 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor |
ORPHA:90036 |
| Bardet-Biedl Syndrome 6 |
|
Postaxial polydactyly, Syndactyly |
OMIM:605231 |
| 3Q29 Microdeletion Syndrome |
|
Microcephaly, Pulmonary arterial hypertension, Macrocephaly, Microphthalmia, Clinodactyly of the ... |
ORPHA:65286 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... |
ORPHA:276621 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Pallor |
ORPHA:3226 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Cerebral cortical atrophy, Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the h... |
OMIM:151050 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Pallor, Congestive heart failure |
ORPHA:90033 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Aplasia/hypoplasia of the humeru... |
ORPHA:3320 |
| Fraser Syndrome |
|
Toe syndactyly, Finger syndactyly, Umbilical hernia, Myelomeningocele, Wide pubic symphysis, Ence... |
ORPHA:2052 |
| Leishmaniasis |
|
Pallor, Skin ulcer |
ORPHA:507 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Dural ectasia, Prominent fingertip pads, Cardiomyopathy, Postnatal growth retardation, Hand muscl... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Dural ectasia, Prominent fingertip pads, Cardiomyopathy, Postnatal growth retardation, Hand muscl... |
ORPHA:363958 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Pallor, Melena |
ORPHA:98870 |
| Rothmund-Thomson Syndrome, Type 3 |
|
Severe short stature, Short distal phalanx of finger, Hypoplasia of the corpus callosum, Talipes ... |
OMIM:615789 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Hypoplasia of the corpus callosum, Microcephaly, Pachygyria, Short stature |
ORPHA:66629 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-3 toe cutaneous syndactyly, Cutaneous finger syndactyly, 2-4 finger syndactyly, 4-5 toe syndact... |
OMIM:613573 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Pallor, Congestive heart failure |
ORPHA:75564 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Polymicrogyria, Unilateral microphthalmos, Microcephaly, Adducted thumb, Macrocephaly, Short stature |
OMIM:618874 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, 2-3 toe syndactyly, Radioulnar synostosis, Microcephaly, Brachyd... |
OMIM:614701 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Cerebellar hypoplasia, Microcephaly, Clinodactyly, Syndactyly |
OMIM:618087 |
| Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Hea... |
ORPHA:206436 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Tarsal sclerosis, Abnormal pelvis bone ossification, Abnormal... |
ORPHA:166119 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Hypoplasia of olfactory tract, Hypoplasia of the corpus callosum, Microphthalmia, ... |
ORPHA:1791 |
| Autosomal Dominant Keratitis |
|
Bilateral microphthalmos, Aniridia, Corneal neovascularization, Hypoplasia of the fovea, Macular ... |
ORPHA:2334 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Hypoplasia of the corpus callosum, Microcephaly, Long fingers, Microphthalmia, Dandy-Walker malfo... |
OMIM:156610 |
| Eem Syndrome |
|
Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
| Oculodentodigital Dysplasia |
|
Clinodactyly, 3-4 toe syndactyly, Basal ganglia calcification, Joint contracture of the 5th finge... |
OMIM:164200 |
| Nance-Horan Syndrome |
|
Short phalanx of finger, Broad finger, Microphthalmia |
OMIM:302350 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Epiphyseal stippling, Microphthalmia, Talipes equinovarus, Severe postnatal growth retardation, S... |
ORPHA:35173 |
| Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebella... |
OMIM:613001 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Abnormal me... |
ORPHA:3429 |
| Silver-Russell Syndrome 1 |
|
Intrauterine growth retardation, Clinodactyly of the 5th finger, Short distal phalanx of the 5th ... |
OMIM:180860 |
| Pfeiffer Syndrome Type 2 |
|
Deviation of the thumb, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus,... |
ORPHA:93259 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Clinodactyly, Cardiomyopathy, Redundant neck skin, Agenesis of corpus callosum, Cerebellar hypopl... |
OMIM:217980 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos, Macrocephaly |
OMIM:615085 |
| Acrocardiofacial Syndrome |
|
Cerebral cortical atrophy, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Intrauteri... |
ORPHA:2008 |
| Miller-Dieker Lissencephaly Syndrome |
|
Joint contracture of the hand, Midline brain calcifications, Pachygyria, Intrauterine growth reta... |
OMIM:247200 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, 2-5 finge... |
ORPHA:468631 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Preaxial polydacty... |
ORPHA:90652 |
| Crane-Heise Syndrome |
|
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... |
ORPHA:1512 |
| Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Skin ulcer, Genu valgum, Pallor, High-output congestive heart failure, Bo... |
ORPHA:231214 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of the olfactory bulb, Anophthalmia, Microphthalmia |
ORPHA:2250 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Small for gestational age, Failure to thrive, Hearing impair... |
OMIM:193700 |
| Bartsocas-Papas Syndrome |
|
Toe syndactyly, Absent thumb, Finger syndactyly, Microcephaly, Aplasia/Hypoplasia of the distal p... |
ORPHA:1234 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Finger syndactyly, Aplasia of the proximal phalanges of the hand, Hypoplasia of the ulna, Short l... |
ORPHA:2256 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris |
OMIM:604229 |
| Fanconi Anemia, Complementation Group N |
|
Absent thumb, Short thumb, Postnatal growth retardation, Microcephaly, Hypoplasia of the radius, ... |
OMIM:610832 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Camptodactyly, Growth delay, Syndactyly |
OMIM:616006 |
| Myhre Syndrome |
|
Aortic valve stenosis, Cone-shaped epiphysis, Clinodactyly, Short toe, Short finger, Radial devia... |
OMIM:139210 |
| Kbg Syndrome |
|
Finger clinodactyly, Single transverse palmar crease, Microcephaly, Cutaneous syndactyly, Short s... |
ORPHA:2332 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... |
ORPHA:206443 |
| Cenani-Lenz Syndrome |
|
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Short thumb, Ol... |
ORPHA:3258 |
| Conotruncal Heart Malformations |
|
Postaxial polydactyly, Broad hallux |
OMIM:217095 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Umbilical hernia, Encephalocele, Cerebellar hypoplasia... |
ORPHA:2166 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Broad thumb, Camptodactyly of finger, Bilateral single transverse palmar creases, Microcephaly, M... |
ORPHA:1236 |
| Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Aplasia/Hypoplasia... |
ORPHA:1647 |
| Irida Syndrome |
|
Pallor |
ORPHA:209981 |
| Klippel-Trenaunay-Weber Syndrome |
|
Macrodactyly, Hand polydactyly, Finger aplasia, Syndactyly |
OMIM:149000 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Hypoplasia of the corpus callosum, Syndactyly, Microphthalmia, Camptodactyly, Growth delay, Short... |
OMIM:614230 |
| Beta-Thalassemia Intermedia |
|
Skin ulcer, Pallor, High-output congestive heart failure, Pulmonary arterial hypertension, Spinal... |
ORPHA:231222 |
| Holt-Oram Syndrome |
|
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Atrioventricular dissociat... |
OMIM:142900 |
| Fumarase Deficiency |
|
Open operculum, Cerebral atrophy, Polymicrogyria, Hypoplasia of the brainstem, Pallor, Agenesis o... |
OMIM:606812 |
| Aarskog-Scott Syndrome |
|
Short 5th finger, Clinodactyly, Radial deviation of finger, Single transverse palmar crease, Synd... |
OMIM:305400 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Polysyndactyly With Cardiac Malformation |
|
Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly |
OMIM:263630 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Pallor |
OMIM:615234 |
| Waldenström Macroglobulinemia |
|
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Pallor, Retinal hem... |
ORPHA:33226 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Abnormal basal ganglia MRI signal intensity, Intrauterine growth retardation, Pallor, Cerebellar ... |
OMIM:301310 |
| Joubert Syndrome 39 |
|
Postaxial polydactyly, Cerebellar vermis hypoplasia, Occipital encephalocele, Joint contracture o... |
OMIM:619562 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Dry skin, Hip contractur... |
OMIM:210710 |
| 8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Camptodactyly of finger, Abnormal m... |
ORPHA:284160 |
| Spondylo-Ocular Syndrome |
|
Short stature, Disproportionate short-trunk short stature, Aplasia/Hypoplasia of the lens, Microp... |
ORPHA:85194 |
| 8Q22.1 Microdeletion Syndrome |
|
Sandal gap, Finger syndactyly, Camptodactyly of finger, Lack of skin elasticity, Microcephaly |
ORPHA:178303 |
| Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Clinodactyly, Radial deviation of finger, Cerebral atrophy, Myelomeni... |
OMIM:311200 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Microcephaly, Simplified gyral pattern |
OMIM:152950 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Cerebral cortical atrophy, Hypotension, Pallor, Microcephaly, Pulmonary arterial hypertension, Hy... |
OMIM:277400 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Cerebellar vermis hypoplasia, Micromelia, Preaxial polydactyly, Polymicrogyria... |
OMIM:616546 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Polymicrogyria, Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of t... |
OMIM:253280 |
| Rubinstein-Taybi Syndrome |
|
Clubbing of toes, Broad thumb, Finger syndactyly, Abnormal distal phalanx morphology of finger, M... |
ORPHA:783 |
| Meckel Syndrome, Type 1 |
|
Cerebral hypoplasia, Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Radial de... |
OMIM:249000 |
| Fg Syndrome Type 1 |
|
Clinodactyly of the 2nd finger, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Umb... |
ORPHA:93932 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Pallor |
OMIM:266200 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Hypo... |
OMIM:236670 |
| Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Hypoplastic iris stroma, Spina bifida |
OMIM:193500 |
| Charge Syndrome |
|
Bifid femur, Short thumb, Umbilical hernia, Postnatal growth retardation, Unilateral microphthalm... |
OMIM:214800 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Agenesis of corpus callosum, Ventricular tac... |
OMIM:300952 |
| Sacral Defect With Anterior Meningocele |
|
Dermal sinus tract, Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Bilateral talipes... |
OMIM:600145 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Cardiac arrest, Abnormal cerebral white matter morphology, Microcephaly, Pallor |
OMIM:246450 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Cerebral cortical atrophy, Microcephaly, Microphthalmia, Partial agenesis of the corpus callosum,... |
OMIM:234050 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Atelis Syndrome 2 |
|
Clinodactyly, Single transverse palmar crease, Microcephaly, Vitreous hemorrhage, Microphthalmia,... |
OMIM:620185 |
| Opitz-Kaveggia Syndrome |
|
Joint contracture of the hand, Broad thumb, Prominent fingertip pads, Clinodactyly, Radial deviat... |
OMIM:305450 |
| Degcags Syndrome |
|
Toe syndactyly, Short thumb, Preaxial hand polydactyly, Intrauterine growth retardation, Genu val... |
OMIM:619488 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly |
OMIM:226700 |
| Kenny-Caffey Syndrome, Type 2 |
|
Severe short stature, Basal ganglia calcification, Abnormality of the medullary cavity of the lon... |
OMIM:127000 |
| Acrofacial Dysostosis, Palagonia Type |
|
Small hand, Finger syndactyly, Short 4th metacarpal, Short stature, Spina bifida occulta |
ORPHA:1787 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Pallor |
ORPHA:263455 |
| Jacobsen Syndrome |
|
Intrauterine growth retardation, Microcephaly, Macular hypoplasia, Brachydactyly, Hydrocephalus, ... |
OMIM:147791 |
| Branchiooculofacial Syndrome |
|
Short thumb, Preaxial hand polydactyly, Elbow flexion contracture, Postnatal growth retardation, ... |
OMIM:113620 |
| Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal neovascularization, Microphthalmia |
OMIM:193220 |
| Khan-Khan-Katsanis Syndrome |
|
Cerebellar vermis hypoplasia, Clinodactyly, Tricuspid regurgitation, Intrauterine growth retardat... |
OMIM:618460 |
| Frontonasal Dysplasia 2 |
|
Cerebellar vermis hypoplasia, Intrauterine growth retardation, Encephalocele, Hypoplasia of the c... |
OMIM:613451 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Aplasia of the distal phalanx of the 5th toe, Intrauterine growth retardation, Microcephaly, Brac... |
ORPHA:364577 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the pelvis, Agenesis of corpus callosum, Hydrocephalus, Microphthalm... |
ORPHA:3301 |
| Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Genu valgum, Limb undergrowth |
OMIM:619142 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukoencephalopathy, Hypotension, Dilated cardiomyopathy, Pallor, Microcephaly, Cardiac arrest |
ORPHA:20 |
| Apert Syndrome |
|
Delayed epiphyseal ossification, Broad distal phalanx of the thumb, Broad thumb, Synostosis of ca... |
OMIM:101200 |
| Tukel Syndrome |
|
Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly |
OMIM:609428 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Short stature, Overlapping toe, Inferior cerebellar vermis hypoplasia, Microphthalmia |
OMIM:618571 |
| Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
| Timothy Syndrome |
|
Atrioventricular block, Pulmonary arterial hypertension, Ventricular tachycardia, Cutaneous synda... |
OMIM:601005 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal epiphysis morphology, Growth delay, Pallor, Bowing of the long bones, Pulmonary arterial... |
ORPHA:667 |
| Steinfeld Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia... |
OMIM:184705 |
| Kury-Isidor Syndrome |
|
Growth delay, Finger syndactyly, Talipes equinovarus, Brachydactyly, Hip dysplasia, Rocker bottom... |
OMIM:619762 |
| 3C Syndrome |
|
Aortic valve stenosis, Finger syndactyly, Postnatal growth retardation, Abnormal hip bone morphol... |
ORPHA:7 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Cerebral cortical atrophy, Toe syndactyly, Hypoplasi... |
ORPHA:464306 |
| Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Junctional ectopic tachycardia, Absent septum pellucidum, Single transverse palmar crease, Histio... |
OMIM:309801 |
| Congenital Primary Aphakia |
|
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... |
ORPHA:83461 |
| Ring Chromosome 12 Syndrome |
|
Symphalangism of the thumb, Clinodactyly, Abnormal 5th finger morphology, Microcephaly, Growth de... |
ORPHA:1439 |
| Hydrolethalus Syndrome 1 |
|
Abnormal cortical gyration, Preaxial hand polydactyly, Upper limb undergrowth, Intrauterine growt... |
OMIM:236680 |
| Myelofibrosis |
|
Purpura, Pallor |
OMIM:254450 |
| Cockayne Syndrome B |
|
Severe short stature, Square pelvis bone, Cerebral atrophy, Hypoplasia of the iris, Hypoplastic i... |
OMIM:133540 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth retardation,... |
ORPHA:1052 |
| Hereditary Spherocytosis |
|
Restrictive cardiomyopathy, Growth delay, Skin ulcer, Pallor |
ORPHA:822 |
| Mycophenolate Mofetil Embryopathy |
|
Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Foot polydactyly, Short palm |
ORPHA:268249 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Cerebral cortical atrophy, Abnormal cortical gyration, Cessation of head growth, Single transvers... |
OMIM:617527 |
| Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Syndactyly |
OMIM:619736 |
| Adams-Oliver Syndrome 5 |
|
Umbilical hernia, Pulmonary arterial hypertension, Brachydactyly, Pulmonic stenosis, Syndactyly |
OMIM:616028 |
| Bloom Syndrome |
|
Facial telangiectasia in butterfly midface distribution, Postnatal growth retardation, Intrauteri... |
OMIM:210900 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Growth delay, Bilateral microphthalmos, Postnatal macrocephaly, Basal ganglia calcification, Post... |
ORPHA:93325 |
| Monosomy 9Q22.3 |
|
Palmar pits, Umbilical hernia, Calcification of falx cerebri, Polydactyly, Hydrocephalus, Macroce... |
ORPHA:77301 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Finger clinodactyly, Camptodactyly of finger, Pectoral muscle hypoplasi... |
ORPHA:306542 |
| Rodrigues Blindness |
|
Short stature, Microphthalmia |
OMIM:268320 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Linear Nevus Sebaceus Syndrome |
|
Growth delay, Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Aplasia/Hypoplas... |
ORPHA:2612 |
| Cri-Du-Chat Syndrome |
|
Single transverse palmar crease, Microcephaly, Metatarsus adductus, Short metatarsal, Growth dela... |
OMIM:123450 |
| Adnp Syndrome |
|
Broad thumb, Sandal gap, Broad hallux, Cerebral atrophy, Umbilical hernia, Single transverse palm... |
ORPHA:404448 |
| Chromosome 13Q14 Deletion Syndrome |
|
Umbilical hernia, Overlapping toe, Absent septum pellucidum, Hypoplasia of the corpus callosum, S... |
OMIM:613884 |
| Sepsis In Premature Infants |
|
Hypotension, Pallor, Petechiae, Bradycardia, Tachycardia, Purpura |
ORPHA:90051 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Telangiectasia, Microcephaly, Corneal neovascularization, Microphthalmia |
OMIM:278730 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Ulnar deviation of finger, Clinodactyly, Sandal gap, Radial deviation of f... |
OMIM:618164 |
| Cerebrofacioarticular Syndrome |
|
Cerebellar vermis hypoplasia, Caudal appendage, Hypoplasia of the corpus callosum, Agenesis of co... |
ORPHA:314679 |
| Premature Aging Syndrome, Penttinen Type |
|
Short distal phalanx of finger, Slender long bone, Tibial bowing, Flexion contracture of finger, ... |
OMIM:601812 |
| Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Spina bifida, Partial agenesis of the corpus callosum, Thin corpus callosum, Tethered cord, Taper... |
OMIM:619480 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Short stature, Skin ulcer, Microphthalmia |
ORPHA:1806 |
| Bardet-Biedl Syndrome 1 |
|
Postaxial foot polydactyly, Radial deviation of finger, Macrocephaly, Postaxial polydactyly, Brac... |
OMIM:209900 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Cantú Syndrome |
|
Short distal phalanx of finger, Finger syndactyly, Umbilical hernia, Hypertrophic cardiomyopathy,... |
ORPHA:1517 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Hypoplasia of the pons, Cerebral atrophy, Intraventricular hemorrhage, Short stature, Syndactyly |
OMIM:616430 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Myopathy, Mitochondrial, And Ataxia |
|
Short stature, Growth delay, Pallor |
OMIM:617675 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Overlapping toe, Overlapping fingers, Long toe, Cutaneous syndactyly, Long fingers, Macrocephaly |
OMIM:618316 |
| Trichothiodystrophy 1, Photosensitive |
|
Dry skin, Telangiectasia, Microcephaly, Microphthalmia, Short stature |
OMIM:601675 |
| Pili Torti-Onychodysplasia Syndrome |
|
Dry skin, Cutaneous syndactyly, Palmoplantar keratoderma |
ORPHA:2890 |
| Bartsocas-Papas Syndrome 1 |
|
Hypoplastic scapulae, Absent thumb, Short thumb, Oligodactyly, Hypoplastic iliac wing, Intrauteri... |
OMIM:263650 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Short stature, Basal ganglia calcification, Microcephaly, Microphthalmia |
OMIM:610651 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
| Hereditary Folate Malabsorption |
|
Cerebral calcification, Pallor |
ORPHA:90045 |
| Fanconi Anemia, Complementation Group L |
|
Absent thumb, Intrauterine growth retardation, Microphthalmia, Cerebellar hypoplasia, Hydrocephal... |
OMIM:614083 |
| Blepharonasofacial Malformation Syndrome |
|
Redundant skin, Finger syndactyly |
ORPHA:1252 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Broad toe, Rig... |
OMIM:268310 |
| Pfeiffer Syndrome Type 3 |
|
Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus, Short hallux, Aqueducta... |
ORPHA:93260 |
| Proboscis Lateralis |
|
Abnormal corpus callosum morphology, Macrocephaly, Anophthalmia, Microphthalmia, Holoprosencephal... |
ORPHA:141099 |
| Oculodentodigital Dysplasia |
|
Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Clinodactyly, Preaxial hand polydact... |
ORPHA:2710 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Lissencephaly, Abnormal cortical gyration, Broad thumb, Finger syndactyly, Polymicrogyria, Preaxi... |
ORPHA:2211 |
| Idiopathic Hypereosinophilic Syndrome |
|
Dilated cardiomyopathy, Pulmonary embolism, Congestive heart failure, Swelling of proximal interp... |
ORPHA:3260 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal neovascularization, Microphthalmia |
OMIM:305390 |
| Trichothiodystrophy 3, Photosensitive |
|
Short stature, Intrauterine growth retardation, Microphthalmia |
OMIM:616395 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly, Intrauterine growth retardation |
OMIM:615824 |
| Bardet-Biedl Syndrome 12 |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly |
OMIM:615989 |
| Anterior Segment Dysgenesis 2 |
|
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia |
OMIM:610256 |
| Diamond-Blackfan Anemia |
|
Absent thumb, Short thumb, Abnormality of the thenar eminence, Pallor, Partial duplication of thu... |
ORPHA:124 |
| Beta-Ketothiolase Deficiency |
|
Hypotension, Hypertension, Pallor |
ORPHA:134 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
2-3 toe cutaneous syndactyly, Postnatal growth retardation, Talipes equinovarus, Pulmonary arteri... |
OMIM:620029 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Anemic pallor, Growth delay |
ORPHA:329971 |
| Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Microphthalmia, Pachygyria, Polymicrogyria |
ORPHA:2328 |
| Acromelic Frontonasal Dysostosis |
|
Optic nerve hypoplasia, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foo... |
OMIM:603671 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Optic nerve hypoplasia,... |
ORPHA:101085 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Microphthalmia, Syndromic 1 |
|
Joint contracture of the hand, Prominent fingertip pads, Clinodactyly, Radial deviation of finger... |
OMIM:309800 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Acrofrontofacionasal Dysostosis 1 |
|
Short distal phalanx of finger, Broad thumb, Acetabular dysplasia, Microphthalmia, Short stature,... |
OMIM:201180 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Postaxial polydacty... |
ORPHA:457284 |
| Poland Syndrome |
|
Small hand, Aplasia/Hypoplasia of the radius, Cone-shaped epiphysis, Finger syndactyly, Absent ha... |
ORPHA:2911 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... |
OMIM:609136 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cerebellar vermis hypoplasia, Hypoplastic anterior commissure, Hypoplasia of the pons, Macrocepha... |
OMIM:616975 |
| Dubowitz Syndrome |
|
Hypoplasia of the iris, Postnatal growth retardation, Intrauterine growth retardation, Single tra... |
OMIM:223370 |
| Adult Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, EEG abnormality |
ORPHA:206448 |
| Orofaciodigital Syndrome V |
|
Postaxial foot polydactyly, Sandal gap, Agenesis of corpus callosum, Postaxial polydactyly, Micro... |
OMIM:174300 |
| Refractory Anemia With Excess Blasts |
|
Retinal hemorrhage, Anemic pallor, Palpitations |
ORPHA:86839 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Pallor |
ORPHA:348 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Bilateral microphthalmos, Hypoplasia of th... |
OMIM:610828 |
| Momo Syndrome |
|
Bilateral microphthalmos, Femoral bowing, Short sternum, Large hands, Macrocephaly, Short stature... |
ORPHA:2563 |
| Pituitary Apoplexy |
|
Hypotension, Hypertension, Abnormal caudate nucleus morphology, Pallor |
ORPHA:95613 |
| Pseudoaminopterin Syndrome |
|
Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th... |
ORPHA:221120 |
| Hallermann-Streiff Syndrome |
|
Small hand, Congestive heart failure, Proportionate short stature, Cerebellar hypoplasia, Microce... |
ORPHA:2108 |
| Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
| Pierson Syndrome |
|
Hypoplasia of the iris, Rieger anomaly, Microcephaly, Hypoplasia of the ciliary body, Progressive... |
OMIM:609049 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Hypoplasia of the corpus callosum, 2-3 toe syndactyly, Microcephaly, Long fingers, Microphthalmia... |
OMIM:616734 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly |
ORPHA:1997 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Small hand, Abnormal cortical gyration, Hypoplasia of the corpus callosum, Postaxial polydactyly,... |
OMIM:300968 |
| Larsen Syndrome |
|
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m... |
ORPHA:503 |
| Ohdo Syndrome, X-Linked |
|
Short thumb, Clinodactyly, Overlapping toe, Long thumb, Ulnar deviation of the hand, Hip dysplasi... |
OMIM:300895 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Small hand, Intrauterine growth retardation, Portal hypertension, Microcephaly, Severe postnatal ... |
OMIM:620005 |
| Tarp Syndrome |
|
Abnormal corpus callosum morphology, Finger syndactyly, Clinodactyly, Hypoplasia of proximal radi... |
ORPHA:2886 |
| X Small Rings |
|
Toe syndactyly, Upper limb undergrowth, Mitral stenosis, Lower limb undergrowth, 2-3 toe syndacty... |
ORPHA:96201 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger |
ORPHA:246 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Intrauterine growth retardation, Rud... |
ORPHA:958 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... |
ORPHA:99027 |
| Kinsship Syndrome |
|
Single transverse palmar crease, Polydactyly, Fibular hypoplasia, Microcephaly, Coxa valga, Prima... |
OMIM:619297 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Cerebellar vermis hypoplasia, Cavum septum pellucidum, Secondary microcephaly, Umbilical hernia, ... |
OMIM:620654 |
| Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Aplasia of the distal phalanx of the 5th toe, Short finger, Intrauterine growth retardation, Micr... |
OMIM:608670 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Microphthalmia |
OMIM:301108 |
| Neurocardiofaciodigital Syndrome |
|
Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Polydactyly, Microcephaly, Cavum... |
OMIM:619869 |
| Grange Syndrome |
|
Renovascular hypertension, Brachydactyly, Finger clinodactyly, Syndactyly |
OMIM:602531 |
| Microphthalmia/Coloboma 12 |
|
Optic nerve aplasia, Growth delay, Microphthalmia |
OMIM:120200 |
| Trisomy 10P |
|
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnormality of the... |
ORPHA:171929 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Hypotension, Syncope, Pallor |
ORPHA:98849 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Pallor |
ORPHA:300298 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Polymicrogyria, Umbilical hernia, Syndactyly |
OMIM:614520 |
| Imerslund-Gräsbeck Syndrome |
|
Tachycardia, Pallor |
ORPHA:35858 |
| Sheehan Syndrome |
|
Dry skin, Palpitations, Pallor, Orthostatic hypotension, Bradycardia |
ORPHA:91355 |
| Legius Syndrome |
|
Polydactyly, Paroxysmal atrial tachycardia, Macrocephaly, Short stature, Clinodactyly of the 5th ... |
ORPHA:137605 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd... |
ORPHA:1112 |
| Fontaine Progeroid Syndrome |
|
Short distal phalanx of finger, Cerebellar vermis hypoplasia, Umbilical hernia, Tricuspid regurgi... |
OMIM:612289 |
| Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Mogs-Cdg |
|
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Sens... |
ORPHA:79330 |
| Vacterl/Vater Association |
|
Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Preaxial hand polyd... |
ORPHA:887 |
| Pallister-Hall Syndrome |
|
Broad thumb, Toe syndactyly, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe... |
ORPHA:672 |
| Apert Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Micromelia, Absent septum pellucidum, Agenesis of... |
ORPHA:87 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Clinodactyly, Postnatal growth retardation, Intrauterine growth retardation, Syndactyly, Brachyda... |
ORPHA:96182 |
| Hamamy Syndrome |
|
Prolonged QRS complex, Mitral regurgitation, Down-sloping shoulders, Long toe, Tapered finger, Lo... |
OMIM:611174 |
| Acrocallosal Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydactyly, Aplasia... |
OMIM:200990 |
| Alternating Hemiplegia Of Childhood |
|
Cardiomyopathy, Abnormal T-wave, Pallor, Cardiac conduction abnormality, Arrhythmia |
ORPHA:2131 |
| Fryns Syndrome |
|
Short distal phalanx of finger, Cerebral cortical atrophy, Agenesis of corpus callosum, Microphth... |
ORPHA:2059 |
| Kbg Syndrome |
|
Radial deviation of finger, Ulnar deviation of the 2nd finger, Single transverse palmar crease, M... |
OMIM:148050 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypotension, Growth delay, Absent septum pellucidum, Pituitary dwarfism, Agenesis of corpus callo... |
ORPHA:95494 |
| Adenohypophysitis |
|
Pallor, Orthostatic hypotension |
ORPHA:95512 |
| Aicardi Syndrome |
|
Small hand, Polymicrogyria, Microphthalmia, Microcephaly, Aplasia/Hypoplasia of the cerebellum, D... |
ORPHA:50 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Preaxial polydactyly, Fibular hypoplasia, Postaxial polydactyly, Narrow greater scia... |
OMIM:617925 |
| Smith-Lemli-Opitz Syndrome |
|
Postaxial foot polydactyly, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Abnorma... |
ORPHA:818 |
| Witteveen-Kolk Syndrome |
|
Small hand, Toe syndactyly, Clinodactyly, Overlapping toe, Hypoplasia of the corpus callosum, Ara... |
OMIM:613406 |
| Constricting Bands, Congenital |
|
Talipes equinovarus, Hand polydactyly, Encephalocele, Syndactyly |
OMIM:217100 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Severe short stature, Aplastic clavicle, Finger syndactyly, Redundant skin, Absent septum pelluci... |
ORPHA:2658 |
| Non-Functioning Pituitary Adenoma |
|
Hypotension, Pallor |
ORPHA:91349 |
| Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
| Orofaciodigital Syndrome Type 1 |
|
Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Short toe, Preaxial hand polydacty... |
ORPHA:2750 |
| Prolactinoma |
|
Hypotension, Delayed puberty, Pallor |
ORPHA:2965 |
| Okamoto Syndrome |
|
Aortic valve stenosis, Abnormally large globe, Hypoplasia of the corpus callosum, Polydactyly, Sy... |
ORPHA:2729 |
| Von Hippel-Lindau Disease |
|
Cardiomyopathy, Palpitations, Pallor, Arrhythmia, Myocarditis, Abnormal left ventricular function... |
ORPHA:892 |
| 8Q24.3 Microdeletion Syndrome |
|
Infancy onset short-trunk short stature, Branchial cyst, Secondary microcephaly, Hypoplasia of th... |
ORPHA:508488 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Broad thumb, Clinodactyly, Tricuspid regurgitation, Brachydactyly, Macrocephaly, Camptodactyly, S... |
OMIM:616894 |
| Trichothiodystrophy |
|
Cerebral cortical atrophy, Cardiomyopathy, Umbilical hernia, Bilateral microphthalmos, Dry skin, ... |
ORPHA:33364 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Umbilical hernia, Intrauterine growth retardation, Mi... |
ORPHA:2990 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Small hand, Short thumb, Telangiectasia, Talipes equinovarus, Forearm... |
OMIM:268400 |
| Panhypophysitis |
|
Pallor, Orthostatic hypotension |
ORPHA:95513 |
| Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye, Phthisis bulbi, Macular hypoplasia, Microphthalmia, Buphthalmos |
ORPHA:91495 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Postaxial polydactyly, Hydrocephalus |
OMIM:219730 |
| Otodental Syndrome |
|
Lens coloboma, Microphthalmia |
ORPHA:2791 |
| Orofaciodigital Syndrome Type 2 |
|
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... |
ORPHA:2751 |
| Neuroblastoma |
|
Anemic pallor, Hypertension, Spinal cord compression |
ORPHA:635 |
| Postaxial Acrofacial Dysostosis |
|
Congenital hip dislocation, Short thumb, Postnatal growth retardation, Radioulnar synostosis, Hyp... |
OMIM:263750 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Severe short stature, Ulnar deviation of finger, Finger syndactyly, Camptodactyly of finger, Hemi... |
ORPHA:2215 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Phthisis bulbi, Buphthalmos, Hyphema, Microphthalmia |
OMIM:221900 |
| Hartsfield Syndrome |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Ectrodactyly, Agenesis of corpus callosum,... |
OMIM:615465 |
| Adult Syndrome |
|
Toe syndactyly, Skin ulcer, Finger syndactyly, Dry skin, Split foot |
ORPHA:978 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
| Cranioectodermal Dysplasia 2 |
|
Rhizomelia, Clinodactyly, Macrocephaly, Polydactyly, Cutis laxa, Brachydactyly, Postaxial hand po... |
OMIM:613610 |
| Rabson-Mendenhall Syndrome |
|
Cardiomyopathy, Dry skin, Intrauterine growth retardation, Polydactyly, Severe postnatal growth r... |
ORPHA:769 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Leukoencephalopathy, Cerebral atrophy, Hypertrophic cardiomyopathy, Short humerus, Polydactyly, M... |
ORPHA:17 |
| Yunis-Varon Syndrome |
|
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Bilateral single transverse palmar creases, H... |
OMIM:216340 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Adactyly, Upper... |
ORPHA:989 |
| Cat Eye Syndrome |
|
Umbilical hernia, Absent radius, Microphthalmia, Short stature, Pulmonic stenosis |
OMIM:115470 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Tibial bowing, Microcephaly, Phthisis bulbi, Metaphyseal widening, Microphthalmia, Short stature |
OMIM:259770 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
| Roberts-Sc Phocomelia Syndrome |
|
Clinodactyly, Postnatal growth retardation, Abnormal metacarpal morphology, Microphthalmia, Absen... |
OMIM:268300 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Congenital hip dislocation, Umbilical hernia, Cubitus valgus, Hydrocephalus, Syndactyly |
OMIM:104350 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent hand, Aplasia/Hypoplasia involving th... |
ORPHA:570 |
| Esophageal Atresia |
|
Growth delay, Clinodactyly, Pallor |
ORPHA:1199 |
| Carpenter Syndrome 2 |
|
Broad thumb, Preaxial polydactyly, Tricuspid regurgitation, Umbilical hernia, Cutaneous finger sy... |
OMIM:614976 |
| Bardet-Biedl Syndrome 20 |
|
2-3 toe syndactyly, Preaxial foot polydactyly, Postaxial polydactyly, Postaxial hand polydactyly |
OMIM:619471 |
| Prader-Willi Syndrome |
|
Small hand, Radial deviation of finger, Clinodactyly, Intrauterine growth retardation, Genu valgu... |
OMIM:176270 |
| Cockayne Syndrome A |
|
Optic atrophy, Abnormal auditory evoked potentials, Failure to thrive, Decreased nerve conduction... |
OMIM:216400 |
| Microphthalmia/Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic valve stenosis, Aortic regurgitation, Cerebral cortical atrophy, Short 5th toe, 2-4 toe cu... |
ORPHA:268261 |
| Monosomy 9P |
|
Abnormality of the tarsal bones, Bilateral single transverse palmar creases, Agenesis of corpus c... |
ORPHA:261112 |
| Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, 2-3 toe syndactyly, Talipes equinovarus, Pulmonary arterial hypertension, Macr... |
OMIM:620025 |
| Townes-Brocks Syndrome 1 |
|
Broad thumb, Tethered cord, Preaxial hand polydactyly, 3-4 toe syndactyly, Umbilical hernia, Pseu... |
OMIM:107480 |
| Cutis Marmorata Telangiectatica Congenita |
|
Toe syndactyly, Finger syndactyly, Intrauterine growth retardation, Telangiectasia of the skin, S... |
ORPHA:1556 |
| Tsh-Secreting Pituitary Adenoma |
|
Hypotension, Congestive heart failure, Palpitations, Pallor, Delayed puberty, Supraventricular ar... |
ORPHA:91347 |
| Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Ethmo... |
OMIM:236100 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Ulnar deviation of finger, Umbilical hernia, Patellar aplasia, Acetabular dysplasia, Down-sloping... |
OMIM:265000 |
| Helsmoortel-Van Der Aa Syndrome |
|
Small hand, Prominent fingertip pads, Sandal gap, Short 4th toe, Broad hallux, Intrauterine growt... |
OMIM:615873 |
| Autosomal Recessive Robinow Syndrome |
|
Short distal phalanx of finger, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, El... |
ORPHA:1507 |
| 3Mc Syndrome 3 |
|
Clinodactyly, Preaxial polydactyly, Radioulnar synostosis, Short stature, Growth delay |
OMIM:248340 |
| Fryns Syndrome |
|
Short distal phalanx of finger, Joint contracture of the hand, Short thumb, Prominent fingertip p... |
OMIM:229850 |
| Traboulsi Syndrome |
|
Broad hallux, Short finger, Arachnodactyly, Cubitus valgus, Microphthalmia |
OMIM:601552 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Short distal phalanx of finger, Broad thumb, Prominent fingertip pads, Broa... |
OMIM:612474 |
| Saethre-Chotzen Syndrome |
|
Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe... |
OMIM:101400 |
| Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
| Phace Association |
|
Cerebellar hypoplasia, Microphthalmia, Dandy-Walker malformation, Optic nerve hypoplasia |
OMIM:606519 |
| Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... |
ORPHA:909 |
| Saethre-Chotzen Syndrome |
|
Broad thumb, Finger syndactyly, Bilateral single transverse palmar creases, Triphalangeal thumb, ... |
ORPHA:794 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microcephaly, Microphthalmia |
OMIM:110100 |
| Mckusick-Kaufman Syndrome |
|
Postaxial foot polydactyly, Finger syndactyly, Abnormal metacarpal morphology, Brachydactyly, Pos... |
ORPHA:2473 |
| Au-Kline Syndrome |
|
Overlapping toe, Postaxial polydactyly, Syringomyelia, Deep palmar crease, Lipomyelomeningocele, ... |
OMIM:616580 |
| Mosaic Trisomy 16 |
|
Short forearm, Short thumb, Clinodactyly, Intrauterine growth retardation, Large placenta, Single... |
ORPHA:1708 |
| Sclerosteosis 1 |
|
Abnormal pelvic girdle bone morphology, Deviation of finger, 2-3 finger syndactyly, Cortically de... |
OMIM:269500 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Aortic valve stenosis, Broad thumb, Secondary microcephaly, Postnatal growth retardation, Syndact... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Aortic valve stenosis, Broad thumb, Secondary microcephaly, Postnatal growth retardation, Syndact... |
ORPHA:353277 |
| Norrie Disease |
|
Hypoplasia of the iris, Buphthalmos, Microphthalmia |
OMIM:310600 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
| Oculoauricular Syndrome |
|
Spina bifida occulta, Macular hypoplasia, Phthisis bulbi, Microphthalmia, Microphakia |
OMIM:612109 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Genu valgum, Branchial anomaly, Partial duplication of thumb phalanx, An... |
OMIM:164210 |
| Rapp-Hodgkin Syndrome |
|
2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Dry skin, Short stature, Syndactyly |
OMIM:129400 |
| Cockayne Syndrome |
|
Severe short stature, Abnormal epiphysis morphology, Growth delay, Cerebral atrophy, Premature sk... |
ORPHA:191 |
| Fraser Syndrome 2 |
|
Cutaneous syndactyly, Microphthalmia |
OMIM:617666 |
| Orofaciodigital Syndrome Xiv |
|
Cerebellar vermis hypoplasia, Occipital encephalocele, Broad hallux, Preaxial polydactyly, Polymi... |
OMIM:615948 |
| Neuroocular Syndrome 1 |
|
Prominent fingertip pads, Tibial torsion, Umbilical hernia, Periventricular leukomalacia, Hypopla... |
OMIM:619539 |
| Culler-Jones Syndrome |
|
Postaxial polydactyly, Short stature |
OMIM:615849 |
| Faciocardiomelic Syndrome |
|
Microcephaly, Hypoplastic pelvis, Slender long bone, Polydactyly |
OMIM:612731 |
| Stolerman Neurodevelopmental Syndrome |
|
Clinodactyly of the 5th finger, Broad palm, Syndactyly |
OMIM:618505 |
| Cockayne Syndrome Type 3 |
|
Subdural hemorrhage, Cardiomyopathy, Basal ganglia calcification, Mild postnatal growth retardati... |
ORPHA:90324 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly |
ORPHA:314655 |
| Orofaciodigital Syndrome Type 4 |
|
Aplasia/Hypoplasia of the tibia, Cerebral cortical atrophy, Severe short stature, Growth delay, F... |
ORPHA:2753 |
| Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
| Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Toe syndactyly, Broad thumb, Finger syndactyly, Cardiomyopathy, Short... |
ORPHA:373 |
| Hereditary Acrokeratotic Poikiloderma |
|
Erythema, Finger syndactyly, Skin ulcer, Camptodactyly of finger, Abnormal hip bone morphology, A... |
ORPHA:2907 |
| Townes-Brocks Syndrome |
|
Toe clinodactyly, Ulnar deviation of finger, Broad thumb, Toe syndactyly, Preaxial hand polydacty... |
ORPHA:857 |
| Phace Syndrome |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Lens coloboma, ... |
ORPHA:42775 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Periventricular leukomalacia, Preaxial polydactyly |
ORPHA:163681 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Broad femoral neck, Phthisis bulbi, Diaphyseal dysplasia, Broad ischia, Metaphyseal dysplasia, Ma... |
OMIM:619727 |
| Papillorenal Syndrome |
|
Short stature, Hypertension, Microphthalmia |
OMIM:120330 |
| Loeys-Dietz Syndrome 2 |
|
Joint contracture of the hand, Dural ectasia, Umbilical hernia, Striae distensae, Absent distal p... |
OMIM:610168 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Broad hallux, Branchial cyst, Clinodactyly, Intrauterine growth retardation, Single transverse pa... |
OMIM:620186 |
| Renpenning Syndrome 1 |
|
Joint contracture of the hand, Synostosis of the proximal phalanx of the thumb with the 1st metac... |
OMIM:309500 |
| Limb-Mammary Syndrome |
|
Toe syndactyly, Oligodactyly, Dry skin, Clinodactyly of the 5th finger, 3-4 finger cutaneous synd... |
ORPHA:69085 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Down-sloping shoulders, Proportionate short stature, Broad palm, Metatarsus adductus, Camptodacty... |
OMIM:227330 |
| Peters-Plus Syndrome |
|
Square pelvis bone, Postnatal growth retardation, Limited elbow movement, Agenesis of corpus call... |
OMIM:261540 |
| Eec Syndrome |
|
Toe syndactyly, Finger syndactyly, Ectrodactyly, Dry skin, Aplasia/Hypoplasia of the thumb, Split... |
ORPHA:1896 |
| Scalp-Ear-Nipple Syndrome |
|
Broad thumb, Finger syndactyly, Congestive heart failure, Dry skin, Supraventricular tachycardia,... |
OMIM:181270 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Hypertensive crisis, Hypertension, Pallor |
ORPHA:544482 |
| Multiple Endocrine Neoplasia Type 2 |
|
Hypertensive crisis, Palpitations, Pallor, Hypertension associated with pheochromocytoma |
ORPHA:653 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Branchial anomaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Postaxial poly... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Branchial anomaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Postaxial poly... |
ORPHA:352665 |
| Lowe Oculocerebrorenal Syndrome |
|
Joint contracture of the hand, Finger swelling, Wrist swelling, Camptodactyly of finger, Perivent... |
OMIM:309000 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
2-4 toe syndactyly, Dry skin, Cone-shaped epiphyses of the phalanges of the hand, Avascular necro... |
OMIM:150230 |
| Pearson Marrow-Pancreas Syndrome |
|
Erythema, Pallor |
OMIM:557000 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Leukoencephalopathy, Focal cortical dysplasia, Hypoplasia of the iris, Ischemic stroke, Microphth... |
OMIM:175780 |
| Monosomy 22 |
|
Finger syndactyly, Single transverse palmar crease, Microcephaly, Clinodactyly of the 5th finger,... |
ORPHA:96123 |
| Exstrophy-Epispadias Complex |
|
Hydrocephalus, Microcephaly, Spina bifida |
ORPHA:322 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Slender finger, Small hand, Congenital hip dislocation, Abnormal cortical gyration, Cerebellar ve... |
ORPHA:480880 |
| Autosomal Dominant Robinow Syndrome |
|
Severe short stature, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, Micromelia, ... |
ORPHA:3107 |
| Robinow Syndrome |
|
Mesomelia, Short distal phalanx of finger, Radioulnar dislocation, Umbilical hernia, Bifid distal... |
ORPHA:97360 |
| Lymphedema-Distichiasis Syndrome |
|
Arrhythmia, Microphthalmia |
OMIM:153400 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Toe syndactyly, Palmoplantar hyperkeratosis, Finger syndactyly, Bilateral single transverse palma... |
ORPHA:3253 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Broad thumb, Agenesis of corpus callosum, Talipes equinovarus, Arrhythmia, 2-3 finger syndactyly,... |
OMIM:312870 |
| Alstrom Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure, Polydactyly, Short stature, Hypertension |
OMIM:203800 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Dy... |
OMIM:618820 |
| Mullegama-Klein-Martinez Syndrome |
|
Short stature, Clinodactyly of the 5th finger, Microcephaly, Polydactyly |
OMIM:301022 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Toe syndactyly, Split hand, Finger syndactyly |
ORPHA:1300 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Mild postnatal growth retardation, Syndactyly |
OMIM:224120 |
| Mckusick-Kaufman Syndrome |
|
Congenital hip dislocation, Syndactyly, Mesoaxial hand polydactyly, Postaxial hand polydactyly |
OMIM:236700 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal epiphysis morphology, Skin ulcer, Umbilical hernia, Genu valgum, Delayed puberty, Microp... |
ORPHA:534 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Aortic valve stenosis, Secondary microcephaly, Long hallux, Genu valgum, Hypoplasia of the corpus... |
ORPHA:261537 |
| Fraser Syndrome 3 |
|
Hydrocephalus, Cutaneous syndactyly, Short toe |
OMIM:617667 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Brachydactyly, Short stature, Clinodactyly of the 5th ... |
ORPHA:1974 |
| Loeys-Dietz Syndrome 1 |
|
Dural ectasia, Striae distensae, Arachnodactyly, Talipes equinovarus, Postaxial polydactyly, Hydr... |
OMIM:609192 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Cone-shaped epiphysis, Postaxial polydactyly, Short clavicles, Brachydactyly, Short long bone, Po... |
OMIM:617088 |
| Tetraamelia Syndrome 1 |
|
Hypoplastic pelvis, Hydrocephalus, Microphthalmia |
OMIM:273395 |
| Lacrimoauriculodentodigital Syndrome |
|
Toe syndactyly, Absent thumb, Finger syndactyly, Clinodactyly, Short thumb, Corneal neovasculariz... |
ORPHA:2363 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Hypoplastic anterior commissure, Hyphema, Secondary microcephaly, Long hal... |
ORPHA:261552 |
| Holoprosencephaly 2 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Cerebellar hy... |
OMIM:157170 |
| Coffin-Siris Syndrome 12 |
|
Slender finger, Broad thumb, Short thumb, Hippocampal atrophy, Radioulnar synostosis, Microcephal... |
OMIM:619325 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aortic regurgitation, Bidirectional shunt, Broad thumb, Frontotemporal cerebral atrophy, Tricuspi... |
OMIM:619534 |
| Treacher-Collins Syndrome |
|
Branchial fistula, Encephalocele, Microphthalmia |
ORPHA:861 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Bilateral triphalangeal thumbs, Short thumb, Broad hallux, Preaxial polydactyly, Radial deviation... |
OMIM:149730 |
| Doors Syndrome |
|
Short 5th finger, Short distal phalanx of finger, Polymicrogyria, Sirenomelia, Aplasia/Hypoplasia... |
ORPHA:79500 |
| Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short stature, Finger syndactyly, Genu varum |
ORPHA:1969 |
| Mowat-Wilson Syndrome |
|
Aortic valve stenosis, Genu valgum, Hypoplasia of the corpus callosum, Agenesis of corpus callosu... |
ORPHA:2152 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Toe clinodactyly, Cerebellar vermis hypoplasia, Sandal gap, Umbilical hernia, Microcephaly, Cutan... |
OMIM:620330 |
| Specc1L-Related Hypertelorism Syndrome |
|
Short toe, Finger syndactyly, Umbilical hernia, Arrhythmia, Brachydactyly, Clinodactyly of the 5t... |
ORPHA:1519 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Aplasia/Hypoplasia involving the shoulder musculature, Unilateral brachydactyly, Syndactyly |
ORPHA:1521 |
| Bardet-Biedl Syndrome |
|
Fifth finger distal phalanx clinodactyly, Finger syndactyly, Cardiomyopathy, Postaxial polydactyl... |
ORPHA:110 |
| Proteus Syndrome |
|
Macrodactyly, Pulmonary embolism, Finger syndactyly, Abnormality of the wrist, Sirenomelia, Metat... |
ORPHA:744 |
| Mowat-Wilson Syndrome |
|
Abnormal corpus callosum morphology, Aplasia/Hypoplasia of the cerebral white matter, Hypoplasia ... |
OMIM:235730 |
| Kindler Epidermolysis Bullosa |
|
Erythema, Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Short 5th metacar... |
ORPHA:2908 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Cerebral cortical atrophy, Growth delay, Polymicrogyria, Transient ischemic attack, Duplication o... |
ORPHA:2995 |
| Norrie Disease |
|
Cerebral cortical atrophy, Hypoplasia of the iris, Microcephaly, Aplasia/Hypoplasia of the cerebe... |
ORPHA:649 |
| Goodpasture Syndrome |
|
Pulmonary hemorrhage, Pallor |
OMIM:233450 |
| Hennekam Syndrome |
|
Pachygyria, Mild postnatal growth retardation, Finger syndactyly, Camptodactyly of finger |
ORPHA:2136 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Right ventricular failure, Tricuspid regurgitation, Pallor, Mitral regurgitation, Pulmonary arter... |
ORPHA:99125 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Clinodactyly of the 5th finger, Palmoplantar keratoderma, Finger syndactyly |
ORPHA:1071 |
| Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
