| Gombo Syndrome |
|
Microcephaly, Radial deviation of finger, Microphthalmia, Clinodactyly, Brachydactyly |
OMIM:233270 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
| Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Megalencephaly, Postaxial hand polydactyly, Hydrocephalus, Thick corpus callosum, Mac... |
OMIM:615938 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly, Microcephaly |
OMIM:241000 |
| Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
| Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
| Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly, Microcephaly |
OMIM:271109 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Microcephaly, Preaxial polydactyly, Spina bifida... |
ORPHA:64754 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Microcephaly |
OMIM:616335 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Congenital Varicella Syndrome |
|
Micromelia, Microcephaly, Microphthalmia, Cerebral cortical atrophy, Intrauterine growth retardation |
ORPHA:291 |
| Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Microcephaly, Talipes equinovarus, Cerebellar hypoplasia, Microphthalmia, Age... |
OMIM:616570 |
| Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Microcephaly, Polydactyly, Talipes equinova... |
OMIM:613885 |
| Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... |
ORPHA:957 |
| Mmep Syndrome |
|
Microphthalmia, Split foot, Triphalangeal thumb, Microcephaly |
ORPHA:3434 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Short stature, Microcephaly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bon... |
OMIM:600384 |
| Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Congenital hip dislocation, Orbital encephalocele, Hypoplasia of the corpus callosu... |
OMIM:164180 |
| Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Skin ulcer, Spinal dysraphism |
ORPHA:1114 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Acalvaria |
|
Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of... |
ORPHA:945 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of the corpus callosum, Cort... |
OMIM:615771 |
| Frontal Encephalocele |
|
Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor... |
ORPHA:1931 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Small thenar eminence, T... |
OMIM:211960 |
| Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... |
ORPHA:93320 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
| Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
| Microphthalmia With Limb Anomalies |
|
Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Campt... |
OMIM:206920 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Microcephaly, Postaxial foot polyda... |
ORPHA:139471 |
| Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
| Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Short stature, Macrocephaly |
ORPHA:238446 |
| Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly |
ORPHA:2935 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Short stature, Microcephaly, Abnormality of the elbow, Radioulnar synostosis, ... |
ORPHA:3268 |
| Humero-Radial Synostosis |
|
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Microcephaly, Elbow dislocation, Meningocele,... |
ORPHA:3265 |
| Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac... |
OMIM:610140 |
| Microcephaly-Cardiomyopathy |
|
Clinodactyly of the 5th finger, Dilated cardiomyopathy, Sandal gap, Microcephaly |
OMIM:251220 |
| Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
| Joubert Syndrome 22 |
|
Agenesis of cerebellar vermis, Postaxial hand polydactyly, 2-3 toe syndactyly, Temporal cortical ... |
OMIM:615665 |
| Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... |
ORPHA:93323 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um... |
OMIM:615297 |
| Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel... |
ORPHA:1528 |
| Biemond Syndrome Type 2 |
|
Short stature, Hydrocephalus, Preaxial polydactyly, Delayed puberty, Microphthalmia |
ORPHA:141333 |
| Chromosome 2Q31.1 Duplication Syndrome |
|
Short stature, Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, T... |
OMIM:613681 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... |
OMIM:603194 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Short stature, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:1113 |
| Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... |
ORPHA:380 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly |
OMIM:213010 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia |
ORPHA:294975 |
| Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microphthalmia, Growth delay, Microcephaly |
OMIM:614082 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Microcephaly, Postaxial h... |
OMIM:611134 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Short stature, Microphthalmia, Clinodactyly, Brachydactyly |
OMIM:610023 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
| Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
| Feingold Syndrome 2 |
|
Short stature, Short middle phalanx of the 2nd finger, Short thumb, Postnatal growth retardation,... |
OMIM:614326 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
| Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Pallor, Supraventricula... |
ORPHA:90064 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Short stature, Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Sim... |
OMIM:616171 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Deafness, Autosomal Dominant 20 |
|
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:604717 |
| Lissencephaly 8 |
|
Occipital encephalocele, Microcephaly, Hypoplasia of the brainstem, Talipes equinovarus, Hypoplas... |
OMIM:617255 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... |
OMIM:611561 |
| Pelvis-Shoulder Dysplasia |
|
Syndactyly, Short stature, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mes... |
ORPHA:2839 |
| Seckel Syndrome 2 |
|
Short stature, Microcephaly, Heart murmur, Growth delay, Cerebellar hypoplasia, Clinodactyly of t... |
OMIM:606744 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Optic nerve hypoplasia, Frontal encephalocele, Lissencephaly, Cerebella... |
OMIM:218670 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Spina bi... |
ORPHA:1327 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di... |
OMIM:603546 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Short stature, Delayed epiphyseal ossification, Cerebral atrophy, Genu valgum, Cutaneous syndacty... |
ORPHA:166024 |
| Anophthalmia Plus Syndrome |
|
Deviation of finger, Anophthalmia, Spina bifida |
ORPHA:1104 |
| Ravine Syndrome |
|
Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight |
ORPHA:99852 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Short stature, Microcephaly, Short thumb, Short middle phalanx of finger, Brachyd... |
ORPHA:391646 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Megalencephaly, Hydrocephalus, Progressive macrocephaly, Polydactyly, Microphthalmia,... |
OMIM:602501 |
| Polydactyly, Postaxial, Type A8 |
|
Short stature, Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Short stature, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Macrocephaly... |
OMIM:300863 |
| Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
| 2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... |
ORPHA:1617 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Hartsfield Syndrome |
|
Encephalocele, Split hand, Aplasia/Hypoplasia of the corpus callosum, Lobar holoprosencephaly, Ap... |
ORPHA:2117 |
| Hydrolethalus |
|
Anophthalmia, Absent septum pellucidum, Micromelia, Postaxial hand polydactyly, Hydrocephalus, An... |
ORPHA:2189 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb, Postnatal growth retardation, Intrauterine growth retardation |
OMIM:609054 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida |
ORPHA:2476 |
| Septooptic Dysplasia |
|
Optic disc hypoplasia, Absent septum pellucidum, Optic nerve hypoplasia, Short stature, Polydacty... |
OMIM:182230 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Microcephaly, Hydrocephalus, Abnormal left ventricular function, Ca... |
OMIM:613155 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Schisis Association |
|
Encephalocele, Spina bifida, Micromelia, Microcephaly, Anencephaly |
ORPHA:63862 |
| Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
| Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Macrocephaly, Polydactyly, Microcephaly |
OMIM:617119 |
| Microphthalmia, Syndromic 8 |
|
Microphthalmia, Premature skin wrinkling, Split foot, Microcephaly |
OMIM:601349 |
| Cofs Syndrome |
|
Cerebral calcification, Short stature, Camptodactyly of finger, Microcephaly, Aplasia/Hypoplasia ... |
ORPHA:1466 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Growth delay, Microphthalmia, Short stature, Microcephaly |
ORPHA:2528 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Micromelia, Mic... |
ORPHA:1908 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
| Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myelomeningocele, Hydrocephalus,... |
ORPHA:2437 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus, Cerebellar hypoplasia, Type II lissencephaly |
OMIM:614830 |
| Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
| Bardet-Biedl Syndrome 7 |
|
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:615984 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay, Microphthalmia, Microcephaly |
OMIM:278780 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... |
ORPHA:1553 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... |
OMIM:225280 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microcephaly, Cerebral atrophy, Growth delay, Microphthalmia, Agenesis of corpus callosum |
OMIM:274270 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal morphology of the radius, Microcephaly |
ORPHA:3469 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Macrocephaly, Tapered finger |
OMIM:618725 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Macrocephaly at birth, Occipital encephalocele, Hydrocephalus, Microphthalmia, Type II lissencephaly |
ORPHA:324416 |
| Fountain Syndrome |
|
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Short stature, Spina bifida, Erythem... |
ORPHA:3219 |
| Frontonasal Dysplasia 1 |
|
Pericallosal lipoma, Postaxial hand polydactyly, Anterior basal encephalocele, Pectoral muscle hy... |
OMIM:136760 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Humeror... |
ORPHA:2019 |
| Temtamy Syndrome |
|
Short toe, Genu varum, Aplasia/Hypoplasia of the corpus callosum, Macrocephaly, Clinodactyly of t... |
ORPHA:1777 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Short stature, Single transverse palmar crease, Bifid distal phalanx of the thumb,... |
ORPHA:370010 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Sh... |
ORPHA:1120 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical... |
ORPHA:65759 |
| Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short stature, Megalencep... |
OMIM:600325 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Rhizomelia, Short stature, Metaphyseal chondrodysplasia, Abnormality of the calcaneus... |
ORPHA:163966 |
| Fanconi Anemia, Complementation Group I |
|
Short stature, Optic nerve hypoplasia, Absent septum pellucidum, Absent thumb, Microcephaly, Shor... |
OMIM:609053 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia, Clinodactyly, Microcephaly |
OMIM:619981 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
| Walker-Warburg Syndrome |
|
Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Hydrocephalus, ... |
ORPHA:899 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly |
OMIM:615397 |
| Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Microcephaly, Lissencephaly,... |
OMIM:616038 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly |
ORPHA:2440 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Sandal gap, Short stature, Microcephaly, Pulmonary arterial hypertension, Hypoplasia of the corpu... |
OMIM:300887 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
| 17Q12 Microduplication Syndrome |
|
Microphthalmia, Finger syndactyly, Cortical dysplasia, Toe syndactyly |
ORPHA:261272 |
| Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
| Hypomelanosis Of Ito |
|
Syndactyly, Microcephaly, Cerebral atrophy, Hand polydactyly, Radial deviation of finger, Macroce... |
OMIM:300337 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia, Deep palmar crease |
OMIM:600251 |
| Trisomy 1Q |
|
Anophthalmia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly,... |
ORPHA:261344 |
| Adams-Oliver Syndrome 3 |
|
Microcephaly, Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx ... |
OMIM:614814 |
| Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
| Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Short stature, Hypoplastic ilia, Hypoplastic ac... |
OMIM:169550 |
| Long Qt Syndrome 8 |
|
Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... |
OMIM:618447 |
| Warburg Micro Syndrome 1 |
|
Cerebellar vermis hypoplasia, Overlapping toe, Short stature, Microcephaly, Perisylvian polymicro... |
OMIM:600118 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Syndactyly, Short stature, Pallor |
OMIM:615631 |
| Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
| Monosomy 5P |
|
Finger syndactyly, Short stature, Microcephaly, Small hand, Intrauterine growth retardation |
ORPHA:281 |
| Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Short stature, Preaxial polyd... |
OMIM:617927 |
| Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Short stature, Microcephaly, Holoprosencephaly, Microphthalmia |
OMIM:147250 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Short stature, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Cerebellar hypoplasia, M... |
OMIM:251270 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Microcephaly, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Cl... |
OMIM:619091 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia, Hypoplasia of the corpus callosum |
ORPHA:411986 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Trisomy 13 |
|
Anophthalmia, Postaxial hand polydactyly, Aplasia/Hypoplasia of the iris, Abnormal pelvic girdle ... |
ORPHA:3378 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia, Short stature, Microcephaly |
OMIM:300915 |
| Fanconi Anemia, Complementation Group R |
|
Tethered cord, Microcephaly, Absent thumb, Hydrocephalus, Growth delay, Microphthalmia, Radial dy... |
OMIM:617244 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Cyclic Vomiting Syndrome |
|
Growth delay, Cardiomyopathy, Pallor, Microcephaly |
OMIM:500007 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Macrocephaly, Microphthalmia, 3-4 finger syndactyly |
OMIM:615877 |
| Curry-Jones Syndrome |
|
Occipital meningocele, Duplication of thumb phalanx, Megalencephaly, Preaxial hand polydactyly, L... |
OMIM:601707 |
| Gordon Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Short stature, Camptodactyly of finger |
ORPHA:376 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Pallor, Cerebral cortical atrophy |
OMIM:606353 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Joubert Syndrome 40 |
|
Optic nerve hypoplasia, Postaxial polydactyly |
OMIM:619582 |
| Pierpont Syndrome |
|
Abnormal cortical gyration, Short toe, Deep palmar crease, Short finger, Primary microcephaly, Pr... |
ORPHA:487825 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Short stature, Rocker bottom foot, Camptodactyly of finger, Microcephaly, Adducted thumb, Flared ... |
OMIM:610758 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Fatco Syndrome |
|
Finger syndactyly, Short stature, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absen... |
ORPHA:2492 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot |
DECIPHER:46 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P... |
OMIM:607361 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... |
ORPHA:2141 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Camptodactyly of finger, Rocker bottom foot, Microcephaly, Growth delay, Microphthalmia, Intraute... |
OMIM:610756 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... |
OMIM:175700 |
| Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
| Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Agenesis of co... |
OMIM:207950 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Intrauterine growth retardation, Polydactyly, Hypoplastic ischia, Microcephaly |
OMIM:616910 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencephalopathy, Hypoplasia of... |
OMIM:615181 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum |
ORPHA:63260 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Postaxial polydactyly, Megalencephaly, Abnormally large globe, Hydrocephalus, Thick corpus callos... |
OMIM:603387 |
| Cat-Eye Syndrome |
|
Microphthalmia, Hip dysplasia, Short stature, Intrauterine growth retardation |
ORPHA:195 |
| Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Cerebral hemorrhage, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Short ... |
OMIM:300049 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Hydrocephalus, Growth delay, Holoprosencephaly, Microphthalmia, Agenesis of corpus ... |
ORPHA:77298 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Agenesis of cerebellar vermis,... |
OMIM:614815 |
| Joubert Syndrome 10 |
|
Growth delay, Cerebellar vermis hypoplasia, Postaxial polydactyly, Macrocephaly |
OMIM:300804 |
| Joubert Syndrome 16 |
|
Encephalocele, Polydactyly, Dandy-Walker malformation |
OMIM:614465 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
| Pierpont Syndrome |
|
Short stature, Microcephaly, Short toe, Broad palm, Short foot, Deep palmar crease, Short finger,... |
OMIM:602342 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Microphthalmia, Split hand, Abnormal pelvic girdle bone morphology, Hy... |
OMIM:157900 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Down-sloping shoulders, Microcephaly, Cubitus valgus, Camptodactyly, Microphthalmia, Thin corpus ... |
OMIM:619694 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
| Cerebrocostomandibular Syndrome |
|
Cerebral calcification, Hydranencephaly, Short stature, Spina bifida, Microcephaly, Myelomeningoc... |
ORPHA:1393 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Simp... |
OMIM:613153 |
| Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Genu valgum, Macrocephaly, Short palm, Clinodactyly o... |
ORPHA:3210 |
| Nail-Patella Syndrome |
|
Biceps aplasia, Glenoid fossa hypoplasia, Short stature, Spina bifida, Triceps aplasia, Patellar ... |
OMIM:161200 |
| Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Anophthalmia |
ORPHA:66625 |
| Congenital Toxoplasmosis |
|
Cerebral calcification, Microcephaly, Hydrocephalus, Microphthalmia, Intrauterine growth retardation |
ORPHA:858 |
| Retinitis Pigmentosa 51 |
|
Polydactyly, Pallor |
OMIM:613464 |
| Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Abnormal palmar dermatoglyphics, C... |
ORPHA:2092 |
| Bresek Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Postaxial hand polydactyly, Hydrocephalus, Growth delay, Mi... |
ORPHA:85284 |
| Adams-Oliver Syndrome 2 |
|
Single transverse palmar crease, Microcephaly, Hydrocephalus, Cerebral atrophy, Absent distal pha... |
OMIM:614219 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
| Mosaic Trisomy 9 |
|
Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Microcephaly, Spina b... |
ORPHA:99776 |
| Familial Focal Epilepsy With Variable Foci |
|
Focal cortical dysplasia, Polymicrogyria, Pallor, Hemimegalencephaly |
ORPHA:98820 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure, Pallor |
ORPHA:49827 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Hallux valgus, Diffuse cerebral atrophy, Arachnodactyly, Broad hallux, Proximal placement of thum... |
OMIM:613776 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Abnormal epiphysis morphology,... |
ORPHA:93267 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Umbilical hernia, Joint con... |
OMIM:618914 |
| Nephronophthisis 15 |
|
Cerebellar vermis hypoplasia, Polydactyly |
OMIM:614845 |
| Trisomy 18 |
|
Short stature, Camptodactyly of finger, Spina bifida, Microcephaly, Postaxial hand polydactyly, A... |
ORPHA:3380 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Relative macrocephaly, Short stature, Postnatal growth retardation, Upper limb asymmetry, Polydac... |
ORPHA:231140 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
| Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5... |
OMIM:274000 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Short stature, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, M... |
OMIM:614833 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Microcephaly, Aqueductal stenosis, Humeroradial synostos... |
OMIM:251230 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Camptodactyly of finger, Microphthalmia, Cerebral cortical atrophy, Intrauterine g... |
ORPHA:48431 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Anophthalmia, Optic nerve hypoplasia, Postaxial poly... |
OMIM:605627 |
| Grange Syndrome |
|
Aortic regurgitation, Syndactyly, Hypertension, Short palm |
ORPHA:79094 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Short palm, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Broad hallux, Short stat... |
ORPHA:508498 |
| Spontaneous Periodic Hypothermia |
|
Arrhythmia, Pallor, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:29822 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Progressive mic... |
OMIM:615249 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypoplasia of the radius, Hip dis... |
ORPHA:3412 |
| Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Hypoplasia o... |
OMIM:607131 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Anophthalmia, Absent septum pellucidum, Aplastic clavicle, Abn... |
ORPHA:2538 |
| Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Microcephaly, Preaxial polydactyly, Bilateral talipes equ... |
OMIM:618142 |
| Joubert Syndrome 14 |
|
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Postaxial polydactyly... |
OMIM:614424 |
| Meckel Syndrome |
|
Encephalocele, Bowing of the long bones, Anophthalmia, Microcephaly, Preaxial hand polydactyly, P... |
ORPHA:564 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly, Short stature |
OMIM:300484 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
| Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand |
ORPHA:3152 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Short metatars... |
OMIM:617102 |
| Basal Cell Nevus Syndrome 1 |
|
Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Irregular ossification of hand ... |
OMIM:109400 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Hypertrophic cardiomyopathy, Pallor |
OMIM:613561 |
| Myopathic Ehlers-Danlos Syndrome |
|
Shoulder flexion contracture, Tapered finger, Elbow flexion contracture, Congenital bilateral hip... |
ORPHA:536516 |
| 14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Short stature, Short foot, ... |
ORPHA:264200 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Short stature, Osteolysis involving bones of the upper limbs, Osteolysis involving bo... |
ORPHA:88630 |
| Bardet-Biedl Syndrome 16 |
|
Polydactyly, Short stature |
OMIM:615993 |
| Caudal Duplication |
|
Myelomeningocele, Spinal cord lesion, Spina bifida |
ORPHA:1756 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia... |
OMIM:113000 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Short stature, Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly... |
OMIM:617914 |
| Cousin Syndrome |
|
Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio... |
OMIM:260660 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Encephalocele, Portal hypertension... |
ORPHA:974 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Primary microcephaly, Intrauterine growth retardation, Hypoplasia of the corp... |
OMIM:618804 |
| Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd... |
OMIM:614175 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short stature, Postaxial polydactyly, Porencephalic cyst, Cerebral atrophy, Hand ... |
OMIM:258860 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Spina bifida |
ORPHA:2345 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
| Congenital Rubella Syndrome |
|
Short stature, Microcephaly, Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal metaphysis ... |
ORPHA:290 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Severe short stature, Camptodactyly of finger, Short thumb, Palmoplantar kerat... |
ORPHA:2251 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... |
OMIM:300244 |
| Neu-Laxova Syndrome 1 |
|
Micromelia, Calcaneovalgus deformity, Agenesis of corpus callosum, Dandy-Walker malformation, Fin... |
OMIM:256520 |
| Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
| Diabetic Embryopathy |
|
Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Spinal dysraphism, Aplasi... |
ORPHA:1926 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Small hand |
OMIM:619339 |
| Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... |
ORPHA:1263 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormally large globe, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous ... |
ORPHA:363417 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Microcephaly, Absent radius, Aplasia of ... |
ORPHA:1352 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276556 |
| Iniencephaly |
|
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Hydrocephalus, Ane... |
ORPHA:63259 |
| Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin, Tricuspid regurgitation, Secondary microcephaly, Microphthalmia, Abnormality... |
OMIM:618652 |
| Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Pericarditis, Hydrocephalus, Pallor |
ORPHA:163596 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand |
ORPHA:2547 |
| Ring Chromosome 21 Syndrome |
|
Syndactyly, Short stature, Microcephaly, Small hand, Narrow palm, Holoprosencephaly, Clinodactyly |
ORPHA:1445 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Hydrocephalus, Hand polydactyly, C... |
ORPHA:60040 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Orofaciodigital Syndrome Xvii |
|
Short stature, Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Cent... |
OMIM:617926 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Short stature, Proximal placement of thumb, Abnormal thumb morphology, Delayed... |
ORPHA:1825 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
| Neu-Laxova Syndrome |
|
Cerebral calcification, Absent septum pellucidum, Micromelia, Abnormal cortical gyration, Microce... |
ORPHA:2671 |
| Filippi Syndrome |
|
Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Postnatal growth retardation, ... |
OMIM:272440 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Tricuspid regurgitation, Camptodactyly of finger, Ulnar deviation of finger, Mitral... |
ORPHA:1101 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia |
OMIM:610125 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Short stature, Microcephaly, Triphala... |
ORPHA:2994 |
| Charlie M Syndrome |
|
Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly |
ORPHA:1406 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276575 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Syringomyelia, Cerebral cortical atrophy, Congenital bilateral hip dislocation |
ORPHA:404451 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Microcephaly, Polydactyly, Macrocephaly, Clinodactyly, Brachydactyly |
ORPHA:313781 |
| Weaver Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Redundant skin, Large hands, Talipes equi... |
ORPHA:3447 |
| Temtamy Syndrome |
|
Aortic regurgitation, Hip dislocation, Thick corpus callosum, Short 2nd toe, Talipes equinovarus,... |
OMIM:218340 |
| Evans Syndrome |
|
Pallor, Syncope, Epistaxis, Petechiae |
ORPHA:1959 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
| Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Redundant neck skin, Broad hallux, Short stature, Microcephaly, Hand polydactyly, Bro... |
OMIM:239710 |
| Hallermann-Streiff Syndrome |
|
Abnormality of the hand, Microcephaly, Spina bifida, Proportionate short stature, Metaphyseal wid... |
OMIM:234100 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Diffuse cerebral atrophy, Rocker bottom foot, Coxa valga, Microcephaly, Basal ganglia calcificati... |
OMIM:214150 |
| Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Foot oligodactyl... |
OMIM:305600 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276580 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Relative macrocephaly, Syndactyly, Postnatal growth retardation, Short 5th finger, Polydactyly, E... |
ORPHA:397590 |
| 1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short stature, Microcephaly, Hydrocephalus, Short foot, Han... |
ORPHA:250989 |
| Bardet-Biedl Syndrome 19 |
|
Mesoaxial hand polydactyly, Postaxial polydactyly, Postaxial foot polydactyly, Hypoplasia of the ... |
OMIM:615996 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Abnormal globus pallidus morphology, Cerebral atrophy, Facial erythema, Abnormal cerebral white m... |
ORPHA:439218 |
| Monosomy 18P |
|
Short stature, Microcephaly, Hypertension, Holoprosencephaly, Microphthalmia, Brachydactyly |
ORPHA:1598 |
| Warburg Micro Syndrome 2 |
|
Overlapping toe, Microcephaly, Postnatal growth retardation, Secondary microcephaly, Hypoplasia o... |
OMIM:614225 |
| Baraitser-Winter Syndrome 2 |
|
Short stature, Secondary microcephaly, Lissencephaly, Microphthalmia, Pachygyria, Agenesis of cor... |
OMIM:614583 |
| Holoprosencephaly |
|
Encephalocele, Anophthalmia, Microcephaly, Hydrocephalus, Spinal cord tumor, Aplasia/Hypoplasia o... |
ORPHA:2162 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Polydactyly |
OMIM:616490 |
| Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:94080 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Sandal gap, Tapered finger |
ORPHA:1438 |
| Martsolf Syndrome 1 |
|
Short metacarpal, Short stature, Cardiac arrest, Microcephaly, Metatarsus adductus, Slender ulna,... |
OMIM:212720 |
| Mosaic Trisomy 1 |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Finger clinodactyly, Absent distal... |
ORPHA:1692 |
| Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callosum |
ORPHA:99742 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Short stature, Genu varum, Hip dislocation, Cutis laxa, Deep palmar crease, Clinodact... |
OMIM:619451 |
| 3P25.3 Microdeletion Syndrome |
|
Cerebral white matter atrophy, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapere... |
ORPHA:435638 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Hydrocephalus, Redundant skin |
ORPHA:251046 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pallor |
ORPHA:276608 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Secondary microcephaly, Cerebellar hypoplasia |
OMIM:613730 |
| Ritscher-Schinzel Syndrome 3 |
|
Relative macrocephaly, Hypoplasia of the ulna, Cerebellar vermis hypoplasia, Postnatal growth ret... |
OMIM:619135 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Purpura, Radial bowing, Ulnar bowing, Hip dislocatio... |
OMIM:605432 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of t... |
ORPHA:370959 |
| 3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Microcephaly, Aniridia, Biparietal narrowing, Macrocephaly, Camptodac... |
ORPHA:251038 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Hydrocephalus, Polydacty... |
ORPHA:59315 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... |
ORPHA:2756 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Abnormal palmar dermatoglyphics, Microcephaly, Postnatal growth retardation, Heart murmur, Microp... |
ORPHA:2728 |
| Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Intrauterine growth retardation |
ORPHA:2470 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Redundant neck skin, Single transverse palmar crease, 2-3 toe syndactyly, Cutane... |
OMIM:236500 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Short stature, Brachydactyly |
OMIM:613819 |
| Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... |
ORPHA:1520 |
| Fanconi Anemia, Complementation Group S |
|
Short stature, Proximal placement of thumb, Microcephaly, Microphthalmia, Clinodactyly |
OMIM:617883 |
| Gracile Bone Dysplasia |
|
Short stature, Hydrocephalus, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Bra... |
OMIM:602361 |
| Cockayne Syndrome Type 2 |
|
Intrauterine growth retardation, Anophthalmia, Subcortical white matter calcifications |
ORPHA:90322 |
| Fanconi Anemia |
|
Abnormal femur morphology, Triphalangeal thumb, Clinodactyly of the 5th finger, Finger syndactyly... |
ORPHA:84 |
| Holoprosencephaly 9 |
|
Anophthalmia, Short stature, Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Po... |
OMIM:610829 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Dilated cardiomyopathy, Reduced systolic function, Cerebellar hypoplasia |
OMIM:618805 |
| Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Short stature, Microcephaly, Short first metatarsal, Short 5th toe, Pro... |
OMIM:613684 |
| Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Sirenomelia |
|
Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia |
ORPHA:3169 |
| Developmental And Epileptic Encephalopathy 1 |
|
Growth delay, Microphthalmia, Global brain atrophy, Microcephaly |
OMIM:308350 |
| Hogue-Janssen Syndrome 2 |
|
Broad hallux, Postaxial polydactyly, Microcephaly, Hydrocephalus, Hip dysplasia, Hypoplasia of th... |
OMIM:616362 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor |
ORPHA:324575 |
| Marden-Walker Syndrome |
|
Arachnodactyly, Microcephaly, Postnatal growth retardation, Radioulnar synostosis, Hypoplasia of ... |
OMIM:248700 |
| Mohr Syndrome |
|
Syndactyly, Short stature, Preaxial hand polydactyly, Postaxial hand polydactyly, Porencephalic c... |
OMIM:252100 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Crumpled long bones, Short stature, Metaphyseal widening, Abnormal femoral neck/head morphology, ... |
ORPHA:2788 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Corpus callosum atrophy, Diffuse cerebral atrophy, Bilateral microphthalmos, Microcephaly |
ORPHA:77299 |
| Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Microcephaly, Growth delay, Pallor, Delayed puberty |
OMIM:600462 |
| Limb Body Wall Complex |
|
Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the... |
ORPHA:2369 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Sever... |
ORPHA:85167 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Overlapping toe, Short stature, Postaxial polydactyly, Microcephaly, Tapered finger, Postnatal gr... |
OMIM:613792 |
| Holt-Oram Syndrome |
|
Finger syndactyly, Paroxysmal atrial fibrillation, Down-sloping shoulders, First degree atriovent... |
ORPHA:392 |
| Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
| Joubert Syndrome 33 |
|
Syndactyly, Macrocephaly |
OMIM:617767 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Arachnodactyly, Short stature, Postaxial polydactyly, Tapered finger, Microcephaly, Genu valgum, ... |
OMIM:619721 |
| Oculo-Palato-Cerebral Syndrome |
|
Short stature, Microcephaly, Small hand, Aplasia/Hypoplasia of the corpus callosum, Short foot, M... |
ORPHA:2714 |
| Frontorhiny |
|
Encephalocele, Pericallosal lipoma, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus cal... |
ORPHA:391474 |
| Joubert Syndrome 7 |
|
Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgum, Hypoplasia of the ... |
OMIM:611560 |
| Joubert Syndrome 20 |
|
4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Partial agenesis of the cor... |
OMIM:614643 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Overlapping toe, Single transverse palmar crease, Short stature, Tapered finger, M... |
OMIM:619148 |
| Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Dry skin, 3-4 finger syndactyly, 2-3 toe syndactyly |
OMIM:600906 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Fanconi Anemia, Complementation Group E |
|
Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Microcephaly, Microphthal... |
OMIM:600901 |
| Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Occipital encephalocele, Postaxial... |
OMIM:619879 |
| Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... |
ORPHA:93258 |
| Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Short stature, Spina bifida, Short toe, ... |
ORPHA:2308 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly, Microcephaly |
OMIM:615284 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
| Campomelic Dysplasia |
|
Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib... |
OMIM:114290 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Relative macrocephaly, Short stature, Macrocephaly, Clinodactyly of the 5th finger, Microphthalmi... |
OMIM:617306 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Short stature, Unilateral microphthalmos, Microcephaly |
OMIM:619318 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... |
OMIM:609945 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Spina bifida occulta, Short stature |
ORPHA:1514 |
| Microphthalmia, Syndromic 2 |
|
Anophthalmia, Broad hallux, Sandal gap, Short stature, Microcephaly, 2-3 toe cutaneous syndactyly... |
OMIM:300166 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Broad hallux, Single transverse palmar crease, Microcephaly, Hypoplasia of the corpus callosum, M... |
OMIM:614105 |
| Heart And Brain Malformation Syndrome |
|
Cerebellar vermis hypoplasia, Camptodactyly of finger, Microcephaly, Cerebral atrophy, Growth del... |
OMIM:616920 |
| X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Syndactyly, Premature skin wrinkling, Microcephaly |
ORPHA:1942 |
| 2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Microcephaly, Postaxial hand polydactyly, Hydrocephalus, 2-3 toe syndactyly, Posta... |
OMIM:264480 |
| Joubert Syndrome 37 |
|
Cerebellar vermis hypoplasia, Short stature, Postaxial polydactyly, Hypoplasia of the corpus call... |
OMIM:619185 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Microcephaly, Holoprosencephal... |
ORPHA:1587 |
| Pelger-Huet Anomaly |
|
Upper limb undergrowth, Macrocephaly, Polydactyly, Short 3rd metacarpal, Umbilical hernia, Mild s... |
OMIM:169400 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Broad proximal phalanges of the hand, Bilateral microphthalmos, Short foo... |
OMIM:607597 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor, Secondary microcephaly, Cerebellar hypoplasia, Cerebral atrophy |
OMIM:613839 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Heart block, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Rhizomelia, Car... |
ORPHA:175 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Arachnodactyly, Microcephaly |
OMIM:619092 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand |
OMIM:603543 |
| Laurence-Moon Syndrome |
|
Short stature, Polydactyly, Abnormality of the hand |
OMIM:245800 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Short stature, Microphthalmia, Arrhythmia, Synostosis of carpal bones, Bilateral single transvers... |
ORPHA:3191 |
| Baraitser-Winter Syndrome 1 |
|
Short stature, Microcephaly, Postnatal growth retardation, Duplication of phalanx of hallux, Liss... |
OMIM:243310 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Metaphyseal widening, Short phalanx of finger, Genu varum, Short... |
OMIM:615777 |
| Joubert Syndrome 15 |
|
Preaxial polydactyly, Exencephaly |
OMIM:614464 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Opti... |
OMIM:607323 |
| Refsum Disease |
|
Short metacarpal, Heart block, Cardiomyopathy, Hammertoe, Abnormal epiphysis morphology, Micropht... |
ORPHA:773 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... |
OMIM:605282 |
| Fanconi Anemia, Complementation Group A |
|
Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Microcephaly, Microphthal... |
OMIM:227650 |
| Triploidy |
|
Finger syndactyly, Hydrocephalus, Meningocele, Aplasia/Hypoplasia of the corpus callosum, Holopro... |
ORPHA:3376 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Clinodactyly of the 5th finger, Pho... |
ORPHA:3103 |
| Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Proximal placement of thumb, Microcephaly, Spina bifida, Postnatal ... |
OMIM:304050 |
| Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea... |
OMIM:607932 |
| Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Spina bifida, Preaxial hand polydactyly, Abnormal hip... |
ORPHA:261318 |
| Kapur-Toriello Syndrome |
|
Single transverse palmar crease, Camptodactyly of finger, Pachygyria, Short thumb, Microphthalmia... |
OMIM:244300 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia, Radioulnar synosto... |
ORPHA:1788 |
| Orofaciodigital Syndrome Vi |
|
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Ce... |
OMIM:277170 |
| Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Coxa valga, Abnormality of the elbow, Flattened epiphysis, Flat acetabular roof, Hemiatrophy of u... |
ORPHA:163649 |
| Dravet Syndrome |
|
Pallor, Global brain atrophy, Tibial torsion |
ORPHA:33069 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microcephaly, Postnatal growth retardation, Small hand, Short foot, Severe intrauterine growth re... |
OMIM:241410 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia, Pallor |
ORPHA:90037 |
| Stevenson-Carey Syndrome |
|
Hip dysplasia, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Camptodactyly, Microphth... |
OMIM:611961 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Microcephaly, Postnatal... |
OMIM:206900 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Cerebral calcification, Toe syndactyly, Arachnodactyly, Microcephaly, Short pa... |
ORPHA:73246 |
| Fanconi Anemia, Complementation Group C |
|
Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Microcephaly, Microphthal... |
OMIM:227645 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Short stature, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short lon... |
OMIM:615503 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short metatarsal, Tibial bowing, Femoral bowing, Short metacarpal, Ra... |
OMIM:304120 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po... |
OMIM:217085 |
| Oculofaciocardiodental Syndrome |
|
Short thumb, Broad palm, 2-3 toe syndactyly, Genu valgum, Hammertoe, Flexion contracture of the 2... |
ORPHA:2712 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus |
OMIM:601794 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Tethered cord, Short stature, Microcephaly, Spinal dysraphism, Aortic valve stenosis, Mitral sten... |
OMIM:617660 |
| Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Hydrocephalus, Telangiectasia, Polydactyly, Macrocephaly, ... |
ORPHA:93400 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
| Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Brachydactyly, Short stature, Microcephaly, Small hand, Short palm, Clinodacty... |
ORPHA:1786 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Cerebral calcification, Hydrocephalus, Buphthalmos, Hypoplasia of t... |
OMIM:616538 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia, Short stature, Microcephaly |
OMIM:257910 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Short stature, Bilateral single transverse palmar creases, Hand polydactyly, B... |
ORPHA:2377 |
| Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Severe short stature, Short stature, Microcephaly, Growth ... |
ORPHA:3255 |
| Rheumatic Fever |
|
Pericarditis, Epistaxis, Myocarditis, Erythema, Hemiballismus, Pallor, Arrhythmia |
ORPHA:3099 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Microcephaly, Deviation of t... |
ORPHA:464738 |
| Congenital Fibrinogen Deficiency |
|
Microphthalmia, Clubbing of fingers, Tachycardia, Internal hemorrhage |
ORPHA:335 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
| Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Microcephaly, Postnatal growth retardation, Hydrocephalus, Abnormal cerebral white ma... |
ORPHA:2169 |
| Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Broad thumb, Brachydactyly |
OMIM:614526 |
| Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Short stature, Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb... |
OMIM:227646 |
| Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Short stature, Tapered finger, Microcephaly, Narro... |
ORPHA:193 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Severe short stature, Microcephaly, Abnormality of the elbow, Hip dislocation,... |
ORPHA:1005 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Short stature, Microcephaly, Congestive heart failure, Upper limb asymmetry, Umbilical hernia, Mi... |
ORPHA:2505 |
| Warburg Micro Syndrome 3 |
|
Microcephaly, Postnatal growth retardation, Secondary microcephaly, Hypoplasia of the corpus call... |
OMIM:614222 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal cortical gyration, Postaxial polydactyly, Microcephaly, Hydrocephalus, Cerebral atrophy,... |
OMIM:614576 |
| Schizophrenia 1 |
|
Syndactyly, Short stature, Short proximal phalanx of the 4th toe |
OMIM:181510 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Cerebellar vermis hypoplasia, Overlapping toe, Cerebral atrophy, Hip dysplasia, Hypoplasia of the... |
OMIM:618494 |
| Senior-Loken Syndrome 8 |
|
Polydactyly, Pallor |
OMIM:616307 |
| Galloway-Mowat Syndrome 3 |
|
Arachnodactyly, Short stature, Microcephaly, Hip dislocation, Simplified gyral pattern, Cerebral ... |
OMIM:617729 |
| 9Q21.13 Microdeletion Syndrome |
|
Postnatal growth retardation, Aplasia/Hypoplasia of the corpus callosum, Hip dysplasia, Syringomy... |
ORPHA:531151 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sandal gap, Short stature, Microcephaly, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Ce... |
OMIM:612530 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Relative macrocephaly, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasi... |
OMIM:617895 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Encephalocele, Optic nerve hypoplasia, Preaxial po... |
OMIM:603671 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short stature, Microme... |
OMIM:614091 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... |
OMIM:617866 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle |
OMIM:173800 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Vater/Vacterl Association |
|
Syndactyly, Occipital encephalocele, Tethered cord, Spina bifida, Absent radius, Short thumb, Pos... |
OMIM:192350 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Short stature, Micromelia, Split hand, Intrauterine growth retardation, Brachy... |
ORPHA:2145 |
| Ritscher-Schinzel Syndrome 2 |
|
Relative macrocephaly, Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Postna... |
OMIM:300963 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Cerebellar vermis hypoplasia, Dry skin, Cutis laxa, Microphthalmia, Polymicrogyria |
OMIM:612379 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Tricuspid regurgitation, Portal hypertension, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, Short stature, 2-4 toe syndactyly, 2-3 toe syndact... |
OMIM:614099 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Agenesis of cerebellar vermis, Microphthalmia, Agenesis of corpus callosum, Intrau... |
ORPHA:228390 |
| Cloacal Exstrophy |
|
Spina bifida, Abnormal tibia morphology, Myelomeningocele, Absent foot, Hip dislocation, Abnormal... |
ORPHA:93929 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Microcephaly, Cortical dysplasia, Hypertension, Pulmonary arterial... |
OMIM:100300 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Tethered cord, Sandal gap, Macrodactyly, Spinal dysraphism |
OMIM:612918 |
| Microphthalmia, Lenz Type |
|
Finger syndactyly, Short stature, Camptodactyly of finger, Microcephaly, Aplasia/Hypoplasia of th... |
ORPHA:568 |
| Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Short stature, Single transverse palmar crease, Rocker b... |
OMIM:272950 |
| Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Pallor, Skin ulcer |
ORPHA:848 |
| 19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Microcephaly, Growth delay, Toe cl... |
ORPHA:217346 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Arachnodactyly, Short stature, Spina bifida, Microcephaly, Hydroceph... |
ORPHA:567 |
| Diamond-Blackfan Anemia 1 |
|
Short stature, Tricuspid stenosis, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplicati... |
OMIM:105650 |
| Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
| Incontinentia Pigmenti |
|
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Short stature, Abnormal h... |
ORPHA:464 |
| Fanconi Anemia, Complementation Group F |
|
Short stature, Absent thumb, Microcephaly, Short thumb, Hypoplasia of the radius, 2-3 finger synd... |
OMIM:603467 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Finger syndactyly, Single transverse palmar crease, Microcephaly, Tapered finger,... |
ORPHA:435938 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Sandal gap, Broad hallux, Short stature, Microcephaly, 2-3 toe syndactyly, Cuta... |
OMIM:600987 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, Cerebral atrophy, Pulmonary ar... |
OMIM:616449 |
| American Trypanosomiasis |
|
Myocarditis, Congestive heart failure, Cardiomyopathy, Pallor, Arrhythmia |
ORPHA:3386 |
| Microphthalmia, Syndromic 9 |
|
Severe short stature, Anophthalmia, Short stature, Bilateral microphthalmos, Pulmonic stenosis, I... |
OMIM:601186 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Palmoplantar keratoderma |
OMIM:613576 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Abnormal cerebral white matter morphology, Pallor, Microcephaly |
OMIM:246450 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Short stature, Camptodactyly of finger, Biparietal narrowing, Abnormal hip bon... |
ORPHA:1323 |
| Fraser Syndrome 1 |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Abnormal cortical gyration, Microce... |
OMIM:219000 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Relative macrocephaly, Encephalocele, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Pre... |
OMIM:616300 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tap... |
OMIM:609638 |
| Nance-Horan Syndrome |
|
Microphthalmia, Short metacarpal |
ORPHA:627 |
| Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly, Microcephaly |
ORPHA:544254 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal diaphysis morphology, Clinodactyly of the ... |
ORPHA:1515 |
| Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
| Silver-Russell Syndrome 3 |
|
Relative macrocephaly, Syndactyly, Short stature, Postnatal growth retardation, Small hand, Clino... |
OMIM:616489 |
| Phakomatosis Pigmentokeratotica |
|
Raynaud phenomenon, Arrhythmia, Spina bifida, Hemiatrophy |
ORPHA:2874 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease... |
ORPHA:3472 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hypertrophic cardiomyopathy, Single transverse palmar crease |
OMIM:619053 |
| Aarskog-Scott Syndrome |
|
Finger syndactyly, Short stature, Single transverse palmar crease, Camptodactyly of finger, Conge... |
ORPHA:915 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Redundant neck skin, Single transverse palmar crease, Tibial bowing, Hypoplastic iliac wing, Shor... |
ORPHA:96334 |
| Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Radioulnar synostosis... |
OMIM:212780 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Mend Syndrome |
|
Redundant neck skin, Overlapping toe, Broad hallux, Short stature, Long fingers, Hydrocephalus, 2... |
OMIM:300960 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microcephaly, Bilateral microphthalmos, Severe postnatal growth retardation, Clinodactyly of the ... |
ORPHA:2399 |
| Galloway-Mowat Syndrome 1 |
|
Short stature, Microcephaly, Pachygyria, Cerebral atrophy, Hypoplasia of the iris, Hypoplasia of ... |
OMIM:251300 |
| Fetal Alcohol Syndrome |
|
Short stature, Microcephaly, Biparietal narrowing, Microphthalmia, Intrauterine growth retardation |
ORPHA:1915 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Failure to thrive, Optic atrophy |
OMIM:616881 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wide... |
OMIM:613091 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly |
OMIM:601163 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Tricuspid regurgitation, Absent septum pellucidum, Severe short stature, Microcepha... |
ORPHA:2556 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Short stature, Camptodactyly of finger, Microcephaly, Meningocele, Macrocephal... |
ORPHA:2311 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| White Forelock With Malformations |
|
Clinodactyly of the 5th finger, Finger syndactyly, Spina bifida occulta |
ORPHA:2475 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, Joint contracture of the 5th f... |
OMIM:620098 |
| Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Hypoplastic iliac wing, Prominent fingertip pads, Clinodactyly o... |
OMIM:180849 |
| Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Preaxial polyd... |
OMIM:243605 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly |
OMIM:618727 |
| Acrootoocular Syndrome |
|
Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge... |
ORPHA:2980 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... |
OMIM:101600 |
| Oliver Syndrome |
|
Camptodactyly of finger, Microcephaly, Short toe, Postaxial hand polydactyly, Elbow flexion contr... |
ORPHA:2920 |
| Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Rocker bottom foot, Postaxial poly... |
OMIM:311900 |
| Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Hydrocephalus, Cutaneous syndactyly, Macrocephaly, Aplasia/Hypoplasia of the cor... |
OMIM:617822 |
| Cockayne Syndrome Type 1 |
|
Postnatal growth retardation, Basal ganglia calcification, Anophthalmia, Hypertension |
ORPHA:90321 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Dilated cardiomyopathy, ... |
OMIM:253800 |
| Charge Syndrome |
|
Anophthalmia, Short stature, Aplasia/Hypoplasia of the cerebellum, Microcephaly, Aqueductal steno... |
ORPHA:138 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Hydrocephalus, Pulmonic stenosis, Intrauterine growth retardation, Aortic valve steno... |
OMIM:220210 |
| Familial Exudative Vitreoretinopathy |
|
Macular telangiectasia, Microcephaly, Vitreous hemorrhage, Retinal neovascularization, Microphtha... |
ORPHA:891 |
| Neurofibromatosis, Type I |
|
Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valg... |
OMIM:162200 |
| Idiopathic Pulmonary Hemosiderosis |
|
Pallor, Heart murmur, Diffuse alveolar hemorrhage |
ORPHA:99931 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Severe short stature, Microcephaly, Skin ulcer, Scaling skin, Microphthalmia, Dry skin |
ORPHA:2526 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Microcephaly, Partial absence of cerebellar vermis, Hydrocephalus, Buphthalmos, Hy... |
OMIM:613150 |
| Pagod Syndrome |
|
Encephalocele, Short stature, Spina bifida, Sudden cardiac death, Microcephaly, Meningocele, Arrh... |
ORPHA:991 |
| Suleiman-El-Hattab Syndrome |
|
Single transverse palmar crease, Microcephaly, Polydactyly, Clinodactyly, Brachydactyly |
OMIM:618950 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Short stature, Microcephaly, Erythema, Retinal hemorrhage, Pallor, Micro... |
OMIM:308300 |
| Mend Syndrome |
|
Overlapping toe, Broad hallux, Short stature, Long fingers, Hydrocephalus, 2-3 toe syndactyly, Ha... |
ORPHA:401973 |
| 19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Aortic regurgitation, Sandal gap, Aplasia/Hypoplasia of the cerebe... |
ORPHA:254346 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad distal phalanx of fi... |
ORPHA:404440 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect, Clinodactyly, Cutaneous syndactyly |
OMIM:119580 |
| Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Short stature... |
OMIM:146510 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
| Rere-Related Neurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Postnatal growth retardation, Hip dysplasia, Hypoplasia of the corp... |
ORPHA:494344 |
| Dominant Beta-Thalassemia |
|
Bowing of the long bones, High-output congestive heart failure, Dilated cardiomyopathy, Skin ulce... |
ORPHA:231226 |
| Warburg Micro Syndrome 4 |
|
Short stature, Perisylvian polymicrogyria, Severe postnatal growth retardation, Secondary microce... |
OMIM:615663 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Bohring-Opitz Syndrome |
|
Syndactyly, Overlapping toe, Ulnar deviation of the wrist, Short stature, Tapered finger, Mesomel... |
OMIM:605039 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Short hallux, Cerebellar hypoplasia, Abnormal metacarpal morph... |
ORPHA:3224 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor |
OMIM:611590 |
| Micro Syndrome |
|
Cerebellar vermis hypoplasia, Short stature, Microcephaly, Aplasia/Hypoplasia of the corpus callo... |
ORPHA:2510 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia |
OMIM:167730 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Microcephaly, Abnormality of the humerus... |
ORPHA:3186 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Short stature, Abnormality of the hand, Bilateral microphthalmos, Camptodactyly, Umbi... |
ORPHA:369891 |
| Primary Myelofibrosis |
|
Portal hypertension, Pallor, Ecchymosis, Petechiae, Purpura |
ORPHA:824 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Short stature, Microcephaly, Unilateral microphthalmos, Macrocephaly, Polymicrogyria, Adducted thumb |
OMIM:618874 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Broad long bones, Short stature, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly,... |
OMIM:257850 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Postnatal growth retardation, Epiphyseal stippling, Abnormal p... |
OMIM:302960 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Hypoplasia of the brainstem, Hypoplasia of ... |
OMIM:615636 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Short stature, Symphalangism affecting the phalanges of the han... |
ORPHA:710 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short stature,... |
OMIM:614800 |
| Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly |
OMIM:615761 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Clinodactyly, Cerebellar hypoplasia, Microcephaly |
OMIM:618087 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Short stature, Central Y-shaped ... |
ORPHA:2754 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:29072 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Redundant neck skin, Proximal femoral meta... |
ORPHA:397715 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
| 3Q29 Microdeletion Syndrome |
|
Microcephaly, Tapered finger, Pulmonary arterial hypertension, Macrocephaly, Clinodactyly of the ... |
ORPHA:65286 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:276621 |
| Lethal Acantholytic Erosive Disorder |
|
4-5 finger syndactyly, 2-3 finger syndactyly, Impaired myocardial contractility, Hypovolemic shoc... |
ORPHA:158687 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia, Pallor |
ORPHA:90033 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Relative macrocephaly, Hyperextensibility of the finger joints, Syndactyly, Short stature, Aplasi... |
OMIM:151050 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Pallor |
ORPHA:3226 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor |
ORPHA:90036 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Short stature, Microcephaly, Hypoplasia of the corpus callosum, Pachygyria |
ORPHA:66629 |
| Fraser Syndrome |
|
Encephalocele, Finger syndactyly, Anophthalmia, Toe syndactyly, Microcephaly, Myelomeningocele, U... |
ORPHA:2052 |
| Joubert Syndrome 2 |
|
Encephalocele, Agenesis of cerebellar vermis, Postaxial hand polydactyly, Hydrocephalus, Postaxia... |
OMIM:608091 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Short stature, Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, Cox... |
OMIM:614701 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Microcephaly,... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Microcephaly,... |
ORPHA:363958 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Syndactyly, Short digit, Severe short stature, Proximal placement of thumb, Microcephaly, Talipes... |
OMIM:615789 |
| Eem Syndrome |
|
Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| 2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Short stature, Microcephaly, ... |
ORPHA:1001 |
| Leishmaniasis |
|
Pallor, Skin ulcer |
ORPHA:507 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Congestive heart failure, Pallor |
ORPHA:75564 |
| Nance-Horan Syndrome |
|
Microphthalmia, Short phalanx of finger, Broad finger |
OMIM:302350 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microcephaly, Long fingers, Hypoplasia of the corpus callosum, Microphthalmia, Dandy-Walker malfo... |
OMIM:156610 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos, Macrocephaly |
OMIM:615085 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal pelvic girdle bone morp... |
ORPHA:3429 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Melena, Short stature, Pallor |
ORPHA:98870 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Short stature, Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal s... |
ORPHA:35173 |
| Isolated Osteopoikilosis |
|
Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo... |
ORPHA:166119 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Short stature, Hypoplasia of olfactory tract, Hypoplasia of the corpus callosum, M... |
ORPHA:1791 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Redundant neck skin, Proximal placement of thumb, Microcephaly, Cardiomyopathy, Cereb... |
OMIM:217980 |
| Encephalocraniocutaneous Lipomatosis |
|
Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Hypoplasia of the iris, Cerebellar hypopla... |
OMIM:613001 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Pallor |
OMIM:615234 |
| Oculodentodigital Dysplasia |
|
Microcephaly, Basal ganglia calcification, 4-5 finger syndactyly, Hip dislocation, Abnormal cereb... |
OMIM:164200 |
| Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... |
ORPHA:93259 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Growth delay, Syndactyly, Camptodactyly |
OMIM:616006 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Aplasia/Hypoplasia of... |
ORPHA:1512 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger... |
ORPHA:90652 |
| Silver-Russell Syndrome 1 |
|
Syndactyly, Short distal phalanx of the 5th finger, Clinodactyly of the 5th finger, Intrauterine ... |
OMIM:180860 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Abno... |
ORPHA:468631 |
| Miller-Dieker Lissencephaly Syndrome |
|
Single transverse palmar crease, Microcephaly, Pachygyria, Deep palmar crease, Polydactyly, Lisse... |
OMIM:247200 |
| Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Split hand, Split foot... |
ORPHA:2008 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia, Hypoplasia of the olfactory bulb |
ORPHA:2250 |
| Beta-Thalassemia Major |
|
Bowing of the long bones, High-output congestive heart failure, Dilated cardiomyopathy, Skin ulce... |
ORPHA:231214 |
| Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Short long bone, Apl... |
ORPHA:2256 |
| Arthrogryposis, Distal, Type 2A |
|
Failure to thrive, Small for gestational age, Abnormal auditory evoked potentials, Hearing impair... |
OMIM:193700 |
| Beta-Thalassemia Intermedia |
|
Spinal cord compression, High-output congestive heart failure, Skin ulcer, Pallor, Pulmonary arte... |
ORPHA:231222 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
| Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Microcephaly, Absent thumb, Aplasia/Hypoplasia of the distal p... |
ORPHA:1234 |
| Irida Syndrome |
|
Pallor |
ORPHA:209981 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Microcephaly, Postaxial hand polydactyly, Hydrocephalus, Aplasia/Hypoplasia of the... |
ORPHA:2166 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Tapered finger, Microcephaly, Microphthalmia, Broad thumb, Bilateral sin... |
ORPHA:1236 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Growth delay, Hypoplasia of the corpus callosum, Camptodactyly, Mic... |
OMIM:614230 |
| Kbg Syndrome |
|
Short stature, Single transverse palmar crease, Microcephaly, Cutaneous syndactyly, Finger clinod... |
ORPHA:2332 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Tethered cord, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Bi... |
OMIM:600145 |
| Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
| Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Buphthalmos, Hypoplasia o... |
OMIM:253280 |
| Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux |
OMIM:263630 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Short stature, Single transverse palmar crea... |
OMIM:305400 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... |
ORPHA:206436 |
| Myhre Syndrome |
|
Overlapping toe, Short stature, Microcephaly, Short toe, 2-3 toe syndactyly, Macrocephaly, Cone-s... |
OMIM:139210 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Simplified gyral pattern, Microcephaly |
OMIM:152950 |
| Meckel Syndrome, Type 1 |
|
Syndactyly, Bowing of the long bones, Occipital encephalocele, Camptodactyly of finger, Postaxial... |
OMIM:249000 |
| Joubert Syndrome 39 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Joint contracture of the 5th finger, Posta... |
OMIM:619562 |
| 8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Abnormal m... |
ORPHA:284160 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Delayed epiphyseal oss... |
OMIM:210710 |
| 8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Microcephaly, Lack of skin elasticity |
ORPHA:178303 |
| Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage,... |
ORPHA:33226 |
| Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Short stat... |
ORPHA:783 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Postaxial polydactyly, Aplastic clavicle, Micromelia, Hydrocephalus... |
OMIM:616546 |
| Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short... |
ORPHA:85194 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Fumarase Deficiency |
|
Relative macrocephaly, Microcephaly, Cerebral atrophy, Hypoplasia of the brainstem, Lissencephaly... |
OMIM:606812 |
| Fg Syndrome Type 1 |
|
Finger syndactyly, Limited elbow extension and supination, Broad toe, Short stature, Single trans... |
ORPHA:93932 |
| Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Hypoplastic iris stroma, Spina bifida |
OMIM:193500 |
| Kenny-Caffey Syndrome, Type 2 |
|
Severe short stature, Short stature, Basal ganglia calcification, Macrocephaly, Microphthalmia, T... |
OMIM:127000 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Microcephaly, Men... |
OMIM:236670 |
| Charge Syndrome |
|
Hypoplasia of the ulna, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Mi... |
OMIM:214800 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Pallor |
OMIM:266200 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Mic... |
OMIM:300952 |
| Orofaciodigital Syndrome I |
|
Syndactyly, Short stature, Abnormal cortical gyration, Microcephaly, Myelomeningocele, Porencepha... |
OMIM:311200 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microcephaly, Partial agenesis of the corpus callosum, Growth delay, Microphthalmia, Cerebral cor... |
OMIM:234050 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Holoprosenceph... |
OMIM:184705 |
| Atelis Syndrome 2 |
|
Single transverse palmar crease, Microcephaly, Supravalvar pulmonary stenosis, Vitreous hemorrhag... |
OMIM:620185 |
| Split Cord Malformation |
|
Tethered cord, Cervical spina bifida, Talipes cavus equinovarus, Myelomeningocele, Penetrating fo... |
ORPHA:573278 |
| Opitz-Kaveggia Syndrome |
|
Relative macrocephaly, Syndactyly, Broad hallux, Single transverse palmar crease, Facial wrinklin... |
OMIM:305450 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly |
OMIM:226700 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Pallor |
ORPHA:263455 |
| Jacobsen Syndrome |
|
Microcephaly, Hydrocephalus, Macular hypoplasia, Holoprosencephaly, Macrocephaly, Clinodactyly of... |
OMIM:147791 |
| Branchiooculofacial Syndrome |
|
Anophthalmia, Agenesis of cerebellar vermis, Single transverse palmar crease, Proximal placement ... |
OMIM:113620 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Hydrocephalus, Aplasia/Hypoplasia involving the pelvis, Microphthalmia, Ag... |
ORPHA:3301 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Hydrocephalus, Growth delay, Abnormal epiphysis morphology, Pallor, Mac... |
ORPHA:667 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microcephaly, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the ... |
ORPHA:364577 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Khan-Khan-Katsanis Syndrome |
|
Cerebellar vermis hypoplasia, Tricuspid regurgitation, Tethered cord, Postaxial polydactyly, Micr... |
OMIM:618460 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
| Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Short stature, Small hand, Spina bifida occulta, Short 4th metacarpal |
ORPHA:1787 |
| Vitreoretinochoroidopathy |
|
Microphthalmia, Vitreous hemorrhage, Retinal neovascularization |
OMIM:193220 |
| Degcags Syndrome |
|
Syndactyly, Tachycardia, Toe syndactyly, Microcephaly, Short thumb, Preaxial hand polydactyly, Ge... |
OMIM:619488 |
| Apert Syndrome |
|
Syndactyly, Finger syndactyly, Absent septum pellucidum, Limited elbow movement, Megalencephaly, ... |
OMIM:101200 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microcephaly, Hypopla... |
OMIM:613451 |
| 3C Syndrome |
|
Finger syndactyly, Short stature, Postnatal growth retardation, Hydrocephalus, Hand polydactyly, ... |
ORPHA:7 |
| Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Inferior cerebellar vermis hypoplasia, Overlapping toe, Short stature |
OMIM:618571 |
| Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Short stature, Absent septum pellucidum, Single transverse palmar crease, Microcephaly, Junctiona... |
OMIM:309801 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Cardiac arrest, Microcephaly, Dilated cardiomyopathy, Leukoencephalopathy, Pallor, Hypotension |
ORPHA:20 |
| Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Growth delay, Hip dysplasia, ... |
OMIM:619762 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Aortic regurgitation, Toe syndactyly, Arachnodactyly, Short stature, Microcephaly,... |
ORPHA:464306 |
| Ring Chromosome 12 Syndrome |
|
Syndactyly, Microcephaly, Abnormal 5th finger morphology, Growth delay, Symphalangism of the thum... |
ORPHA:1439 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Foot polydactyly, Short palm, Microphthalmia, Agenesis of corpus callosum |
ORPHA:268249 |
| Hydrolethalus Syndrome 1 |
|
Absent septum pellucidum, Abnormal cortical gyration, Preaxial hand polydactyly, Postaxial hand p... |
OMIM:236680 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Cutaneous syndactyly, Bra... |
OMIM:601005 |
| Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
| Hereditary Spherocytosis |
|
Growth delay, Restrictive cardiomyopathy, Pallor, Skin ulcer |
ORPHA:822 |
| Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Syndactyly |
OMIM:619736 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Short stature, Aplasia/Hypoplasia of the cerebellum, Microcephaly, Aplasia/... |
ORPHA:1052 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pericallosal lipoma, Camptodactyly of finger, Finger clinodactyly, Pectoral muscle hypoplasia/apl... |
ORPHA:306542 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Short stature, Postnatal growth retardation, ... |
ORPHA:93325 |
| Rodrigues Blindness |
|
Microphthalmia, Short stature |
OMIM:268320 |
| Bloom Syndrome |
|
Syndactyly, Microcephaly, Postnatal growth retardation, Facial erythema, Growth delay, Hand polyd... |
OMIM:210900 |
| Linear Nevus Sebaceus Syndrome |
|
Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus callosum, Growth del... |
ORPHA:2612 |
| Monosomy 9Q22.3 |
|
Palmar pits, Hydrocephalus, Umbilical hernia, Polydactyly, Calcification of falx cerebri, Macroce... |
ORPHA:77301 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Abnormal cortical gyr... |
OMIM:617527 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Tethered cord, Spina bifida, Tapered finger, Partial agenesis of the corpus callosum, Thin corpus... |
OMIM:619480 |
| Cockayne Syndrome B |
|
Severe short stature, Microcephaly, Postnatal growth retardation, Basal ganglia calcification, Iv... |
OMIM:133540 |
| Chromosome 13Q14 Deletion Syndrome |
|
Overlapping toe, Single transverse palmar crease, Absent septum pellucidum, Hip dislocation, Grow... |
OMIM:613884 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia, Telangiectasia, Corneal neovascularization, Microcephaly |
OMIM:278730 |
| Cerebrofacioarticular Syndrome |
|
Syndactyly, Cerebellar vermis hypoplasia, Short stature, Microcephaly, Dysplastic corpus callosum... |
ORPHA:314679 |
| Sepsis In Premature Infants |
|
Tachycardia, Pallor, Bradycardia, Hypotension, Petechiae, Purpura |
ORPHA:90051 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Cri-Du-Chat Syndrome |
|
Syndactyly, Short metacarpal, Single transverse palmar crease, Microcephaly, Metatarsus adductus,... |
OMIM:123450 |
| Adnp Syndrome |
|
Broad hallux, Single transverse palmar crease, Sandal gap, Microcephaly, Abnormal toe morphology,... |
ORPHA:404448 |
| Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Short stature, Skin ulcer |
ORPHA:1806 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Hypertrophic cardiomyopathy, M... |
ORPHA:1517 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Pulmonary arterial hypertension, Pulmonic stenosis, Umbilical hernia, Brachydactyly |
OMIM:616028 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Short stature, Hypoplasia of the pons, Intraventricular hemorrhage, Cerebral atrophy |
OMIM:616430 |
| Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Palmoplantar hyperkeratosis, Tibial bowing, Short foot, Slender long bone, Macroce... |
OMIM:601812 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Dry skin, Cutaneous syndactyly |
ORPHA:2890 |
| Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Pallor |
OMIM:617675 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad hallux phalanx, Abnormal cortical gyration, Preaxial hand... |
ORPHA:2211 |
| Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... |
OMIM:263650 |
| Bardet-Biedl Syndrome 1 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... |
OMIM:209900 |
| Hereditary Folate Malabsorption |
|
Cerebral calcification, Pallor |
ORPHA:90045 |
| Fanconi Anemia, Complementation Group L |
|
Absent thumb, Absent radius, Hydrocephalus, Growth delay, Bilateral talipes equinovarus, Cerebell... |
OMIM:614083 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Overlapping toe, Long fingers, Cutaneous syndactyly, Macrocephaly, Overlapping fingers |
OMIM:618316 |
| Trichothiodystrophy 1, Photosensitive |
|
Short stature, Microcephaly, Telangiectasia, Microphthalmia, Dry skin |
OMIM:601675 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Basal ganglia calcification, Short stature, Microcephaly |
OMIM:610651 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
| Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Holoprosencephaly, Macrocephaly, Microphthalmia, Abnormal c... |
ORPHA:141099 |
| Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Cerebral calcification, Camptodactyly of finger, Short hallux,... |
ORPHA:2710 |
| Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Short stature, Intrauterine growth retardation |
OMIM:616395 |
| Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Redundant skin |
ORPHA:1252 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Growth delay, Anemic pallor |
ORPHA:329971 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Intrauterine growth retardation, Postaxial polydactyly |
OMIM:615824 |
| Diamond-Blackfan Anemia |
|
Short stature, Absent thumb, Microcephaly, Short thumb, Partial duplication of thumb phalanx, Gro... |
ORPHA:124 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Retinal neovascularization |
OMIM:305390 |
| Kapur-Toriello Syndrome |
|
Microphthalmia, Pachygyria, Dysplastic corpus callosum, Polymicrogyria |
ORPHA:2328 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Optic nerve hypoplasia, Postnatal growth retardation, 2-3 toe cutaneous sy... |
OMIM:620029 |
| Idiopathic Hypereosinophilic Syndrome |
|
Swelling of proximal interphalangeal joints, Transient ischemic attack, Supraventricular arrhythm... |
ORPHA:3260 |
| Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... |
ORPHA:93260 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... |
ORPHA:101085 |
| Microphthalmia, Syndromic 1 |
|
Syndactyly, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Microcephaly, ... |
OMIM:309800 |
| Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Olivopontocerebellar hypoplasia, Hyd... |
ORPHA:457284 |
| Poland Syndrome |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, A... |
ORPHA:2911 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Cerebellar vermis hypoplasia, Short stature, Microcephaly, Hypoplasia of the pons, Hy... |
OMIM:616975 |
| Beta-Ketothiolase Deficiency |
|
Hypertension, Pallor, Hypotension |
ORPHA:134 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Pituitary Apoplexy |
|
Hypertension, Abnormal caudate nucleus morphology, Pallor, Hypotension |
ORPHA:95613 |
| Orofaciodigital Syndrome V |
|
Sandal gap, Postaxial polydactyly, Microcephaly, Postaxial hand polydactyly, Postaxial foot polyd... |
OMIM:174300 |
| Dubowitz Syndrome |
|
Syndactyly, Short stature, Single transverse palmar crease, Microcephaly, Postnatal growth retard... |
OMIM:223370 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Pallor |
ORPHA:348 |
| Acrofrontofacionasal Dysostosis 1 |
|
Short metacarpal, Short stature, Microphthalmia, Acetabular dysplasia, Broad thumb, Short distal ... |
OMIM:201180 |
| Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... |
ORPHA:221120 |
| Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
| Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Microcephaly, Retinal hemorrhage, Hypoplasia of t... |
OMIM:609049 |
| Refractory Anemia With Excess Blasts |
|
Palpitations, Anemic pallor, Retinal hemorrhage |
ORPHA:86839 |
| Larsen Syndrome |
|
Finger syndactyly, Short stature, Accessory carpal bones, Abnormal epiphysis morphology, Broad di... |
ORPHA:503 |
| Momo Syndrome |
|
Short stature, Bilateral microphthalmos, Femoral bowing, Large hands, Short sternum, Macrocephaly... |
ORPHA:2563 |
| Bardet-Biedl Syndrome |
|
Finger syndactyly, Postaxial hand polydactyly, Hypertension, Short stature |
ORPHA:110 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Short stature, Abnormal cortical gyration, Postaxial polydactyly, Tapered finger, Small hand, Hip... |
OMIM:300968 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
| Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
| Grange Syndrome |
|
Finger clinodactyly, Syndactyly, Renovascular hypertension, Brachydactyly |
OMIM:602531 |
| Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hy... |
ORPHA:2886 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly |
ORPHA:1997 |
| Ohdo Syndrome, X-Linked |
|
Ulnar deviation of the hand, Overlapping toe, Short thumb, Hip dysplasia, Microphthalmia, Long th... |
OMIM:300895 |
| Holoprosencephaly 7 |
|
Occipital meningocele, Microcephaly, Alobar holoprosencephaly, Partial agenesis of the corpus cal... |
OMIM:610828 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Short stature, Tapered finger, Microcephaly, Long fingers, 2-3 toe syndactyly, Hypoplasia of the ... |
OMIM:616734 |
| Hallermann-Streiff Syndrome |
|
Proportionate short stature, Microcephaly, Congestive heart failure, Small hand, Short foot, Cere... |
ORPHA:2108 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Hypoplasia of the radius |
ORPHA:246 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Split hand, Hypoplasia of the ra... |
ORPHA:958 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
| X Small Rings |
|
Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous syndactyly,... |
ORPHA:96201 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Portal hypertension, Microcephaly, Tapered finger, Small hand, Pulmonary arterial hypertension, H... |
OMIM:620005 |
| Kinsship Syndrome |
|
Short stature, Single transverse palmar crease, Coxa valga, Microcephaly, Hip dislocation, Fibula... |
OMIM:619297 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Pallor |
ORPHA:300298 |
| Trisomy 10P |
|
Posteriorly rotated ears, Small for gestational age, Abnormal auditory evoked potentials, EEG wit... |
ORPHA:171929 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microcephaly, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the ... |
OMIM:608670 |
| Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia, Growth delay |
OMIM:120200 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Syncope, Pallor, Hypotension |
ORPHA:98849 |
| Sheehan Syndrome |
|
Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin |
ORPHA:91355 |
| Imerslund-Gräsbeck Syndrome |
|
Tachycardia, Pallor |
ORPHA:35858 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Polymicrogyria, Umbilical hernia |
OMIM:614520 |
| Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
| Fontaine Progeroid Syndrome |
|
Syndactyly, Dermal translucency, Cerebellar vermis hypoplasia, Tricuspid regurgitation, Redundant... |
OMIM:612289 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Vacterl/Vater Association |
|
Finger syndactyly, Occipital encephalocele, Preaxial hand polydactyly, Anencephaly, Aplasia/Hypop... |
ORPHA:887 |
| Pallister-Hall Syndrome |
|
Holoprosencephaly, Mesoaxial polydactyly, Radial bowing, Short stature, Umbilical hernia, Polydac... |
ORPHA:672 |
| Hamamy Syndrome |
|
Long toe, Syndactyly, Prolonged QRS complex, Down-sloping shoulders, Tapered finger, Long fingers... |
OMIM:611174 |
| Acrocallosal Syndrome |
|
Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finger, Bifid distal pha... |
OMIM:200990 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Absent septum pellucidum, Mic... |
ORPHA:87 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Relative macrocephaly, Syndactyly, Narrow joint spaces of the elbow, Postnatal growth retardation... |
ORPHA:96182 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
| Kbg Syndrome |
|
Syndactyly, Short stature, Single transverse palmar crease, Microcephaly, Cutaneous syndactyly, R... |
OMIM:148050 |
| Prolactinoma |
|
Pallor, Hypotension, Delayed puberty |
ORPHA:2965 |
| Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
| Non-Functioning Pituitary Adenoma |
|
Pallor, Hypotension |
ORPHA:91349 |
| Fryns Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Agenesis of corpus callosum, Cerebral cortical at... |
ORPHA:2059 |
| Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia |
ORPHA:2131 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypoplasia, Short lo... |
OMIM:617925 |
| Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Hand polydactyly, Talipes equinovarus |
OMIM:217100 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Severe short stature, Absent septum pellucidum, Aplastic clavicle, Redundant s... |
ORPHA:2658 |
| Aicardi Syndrome |
|
Microcephaly, Partial agenesis of the corpus callosum, Small hand, Hip dysplasia, Delayed puberty... |
ORPHA:50 |
| Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Tarsal synostosis, Preaxial hand polydactyly, Short toe, Postaxial hand polyda... |
ORPHA:2750 |
| Neurocardiofaciodigital Syndrome |
|
Syndactyly, Cerebellar vermis hypoplasia, Short stature, Microcephaly, Polydactyly, Hypoplasia of... |
OMIM:619869 |
| Adenohypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95512 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Biparietal narrowing, Holoprosencephaly, Aplasia/Hypoplasia of the c... |
ORPHA:818 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Finger c... |
ORPHA:508488 |
| Von Hippel-Lindau Disease |
|
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... |
ORPHA:892 |
| Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, Cortical dysplasia, Intracranial hemorrhage, Short palm, Clinodactyl... |
OMIM:613406 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Short stature, Short thumb, Small hand, Telangiectasia, Short foot, T... |
OMIM:268400 |
| Okamoto Syndrome |
|
Redundant neck skin, Tethered cord, Microcephaly, Abnormally large globe, Severe postnatal growth... |
ORPHA:2729 |
| Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
| Trichothiodystrophy |
|
Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Bilateral microph... |
ORPHA:33364 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Postaxial polydactyly |
OMIM:219730 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Tricuspid regurgitation, Short stature, Macrocephaly, Mesomelia, Camptodactyly, Clino... |
OMIM:616894 |
| Panhypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95513 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Postnatal growth retardation, Sho... |
OMIM:263750 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Short stature, Camptodactyly of finger, Microcephaly, Symphalangism affecting ... |
ORPHA:2990 |
| Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Skin ulcer, Split foot, Dry skin |
ORPHA:978 |
| Hartsfield Syndrome |
|
Syndactyly, Alobar holoprosencephaly, Microcephaly, Lobar holoprosencephaly, Growth delay, Ectrod... |
OMIM:615465 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Severe short stature, Arachnodactyly, Long palm, Camptodactyly of finger, Tape... |
ORPHA:2215 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
| Persistent Hyperplastic Primary Vitreous |
|
Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye |
ORPHA:91495 |
| Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Short stature, Short tibia, Adactyly, Broad first metatarsal, Po... |
ORPHA:2751 |
| Prader-Willi Syndrome |
|
Syndactyly, Short stature, Acromicria, Small hand, Narrow palm, Genu valgum, Short foot, Hip dysp... |
OMIM:176270 |
| Rabson-Mendenhall Syndrome |
|
Short stature, Severe postnatal growth retardation, Cardiomyopathy, Polydactyly, Intrauterine gro... |
ORPHA:769 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema |
OMIM:221900 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Pituitary dwarfism, Optic nerve hypoplasia, Absent septum pellucidum, Abno... |
ORPHA:95494 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal basal ganglia MRI signal intensity, Short humerus, Short femur, Microcephaly, Cerebral a... |
ORPHA:17 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... |
ORPHA:570 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Cerebellar vermis hypoplasia, Single transverse palmar crease, Redund... |
OMIM:216340 |
| Roberts-Sc Phocomelia Syndrome |
|
Tetraphocomelia, Phocomelia, Wrist flexion contracture, Syndactyly, Hypoplasia of the ulna, Aplas... |
OMIM:268300 |
| Cranioectodermal Dysplasia 2 |
|
Syndactyly, Rhizomelia, Short stature, Postaxial hand polydactyly, Macrocephaly, Cutis laxa, Hype... |
OMIM:613610 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Adactyly, Split hand, Aplasia/Hypoplasia of fingers, Upper limb... |
ORPHA:989 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Short stature, Microcephaly, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Microphthalmia |
OMIM:259770 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Hydrocephalus, Umbilical hernia, Cubitus valgus |
OMIM:104350 |
| Cat Eye Syndrome |
|
Short stature, Absent radius, Umbilical hernia, Pulmonic stenosis, Microphthalmia |
OMIM:115470 |
| Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, P... |
ORPHA:91347 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Monosomy 9P |
|
Proximal placement of thumb, Microcephaly, Abnormality of the tarsal bones, Postaxial hand polyda... |
ORPHA:261112 |
| Holoprosencephaly 1 |
|
Short stature, Alobar holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Microphthalmia, Eth... |
OMIM:236100 |
| Esophageal Atresia |
|
Growth delay, Clinodactyly, Pallor |
ORPHA:1199 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, Optic nerve hypoplasia, 2-3 toe syndactyly, Talipes equinovarus, Macrocephaly,... |
OMIM:620025 |
| Carpenter Syndrome 2 |
|
Short digit, Tricuspid regurgitation, Single transverse palmar crease, Postaxial polydactyly, Pre... |
OMIM:614976 |
| Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Abnormality of the upper limb, Int... |
ORPHA:1556 |
| 3Mc Syndrome 3 |
|
Short stature, Preaxial polydactyly, Growth delay, Radioulnar synostosis, Clinodactyly |
OMIM:248340 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Syndactyly, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders, Short stature, Patellar a... |
OMIM:265000 |
| Townes-Brocks Syndrome 1 |
|
2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, Tethered cord, 1-2 toe syndactyly, M... |
OMIM:107480 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Aortic regurgitation, Short stature, Tapered finger, Abnormal toe morphology, Micr... |
ORPHA:268261 |
| Bardet-Biedl Syndrome 20 |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:619471 |
| Fryns Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Rocker bottom foot, Short thumb, Hy... |
OMIM:229850 |
| Autosomal Recessive Robinow Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas... |
ORPHA:1507 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
| Helsmoortel-Van Der Aa Syndrome |
|
Broad hallux, Sandal gap, Short stature, Tapered finger, Small hand, Heart murmur, Genu valgum, M... |
OMIM:615873 |
| Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, S... |
OMIM:612474 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Short stature, ... |
ORPHA:794 |
| Phace Association |
|
Cerebellar hypoplasia, Microphthalmia, Optic nerve hypoplasia, Dandy-Walker malformation |
OMIM:606519 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Broad hallux, Arachnodactyly, Cubitus valgus, Short finger, Microphthalmia |
OMIM:601552 |
| Au-Kline Syndrome |
|
Overlapping toe, Postaxial polydactyly, Coxa valga, Lipomyelomeningocele, Hypertension, Deep palm... |
OMIM:616580 |
| Mosaic Trisomy 16 |
|
Syndactyly, Single transverse palmar crease, Short thumb, Large placenta, Short femoral neck, Int... |
ORPHA:1708 |
| Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
| Sclerosteosis 1 |
|
Syndactyly, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic girdle bone morphology, C... |
OMIM:269500 |
| Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Cervical cord compression, Syndactyly, Broad hallux, Short stature, Widened distal phalanges, Pul... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Cervical cord compression, Syndactyly, Broad hallux, Short stature, Widened distal phalanges, Pul... |
ORPHA:353277 |
| Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Short stature, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot p... |
ORPHA:2473 |
| Rapp-Hodgkin Syndrome |
|
Syndactyly, Short stature, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Dry skin |
OMIM:129400 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Partial duplication of thumb phalanx, Hydrocephalus, Genu ... |
OMIM:164210 |
| Legius Syndrome |
|
Short stature, Paroxysmal atrial tachycardia, Diaphyseal dysplasia, Polydactyly, Pulmonic stenosi... |
ORPHA:137605 |
| Cockayne Syndrome A |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:216400 |
| Fraser Syndrome 2 |
|
Microphthalmia, Cutaneous syndactyly |
OMIM:617666 |
| Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Clinodactyly of the 5th finger, Syndactyly, Broad palm |
OMIM:618505 |
| Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Broad hallux, Microcephaly, Postaxial hand... |
OMIM:615948 |
| Faciocardiomelic Syndrome |
|
Slender long bone, Polydactyly, Hypoplastic pelvis, Microcephaly |
OMIM:612731 |
| Cockayne Syndrome |
|
Cerebral calcification, Severe short stature, Cerebral dysmyelination, Postnatal growth retardati... |
ORPHA:191 |
| Neuroocular Syndrome |
|
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Short stature... |
OMIM:619539 |
| Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Finger syndactyly, Bundle branch block, Congenital hip dislocation, Toe sy... |
ORPHA:373 |
| Townes-Brocks Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short stature, Preaxial hand polydactyly, Partial duplicati... |
ORPHA:857 |
| Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly |
ORPHA:314655 |
| Cockayne Syndrome Type 3 |
|
Cerebral white matter atrophy, Mild postnatal growth retardation, Basal ganglia calcification, Su... |
ORPHA:90324 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Lens coloboma, Cerebellar hypoplasia, Microphthalmia, Agene... |
ORPHA:42775 |
| Culler-Jones Syndrome |
|
Short stature, Postaxial polydactyly |
OMIM:615849 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Periventricular leukomalacia, Preaxial polydactyly |
ORPHA:163681 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
| Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Short stature, Erythema, ... |
ORPHA:2907 |
| Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Severe short stature, Camptodactyly of finger, Micromelia, Microcephaly, Preax... |
ORPHA:2753 |
| Loeys-Dietz Syndrome 2 |
|
Syndactyly, Dermal translucency, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Hydr... |
OMIM:610168 |
| Papillorenal Syndrome |
|
Microphthalmia, Hypertension, Short stature |
OMIM:120330 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Broad hallux, Single transverse palmar crease, Short stature, Pulmonary arterial ... |
OMIM:620186 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Down-sloping shoulders, Proportionate short stature, Metatarsus adductus, Broad palm,... |
OMIM:227330 |
| Peters-Plus Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Short metat... |
OMIM:261540 |
| Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short stature, Proximal place... |
ORPHA:1896 |
| Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Dry ... |
ORPHA:69085 |
| Renpenning Syndrome 1 |
|
Short stature, Microcephaly, Cerebral atrophy, Camptodactyly, Clinodactyly of the 5th finger, Mic... |
OMIM:309500 |
| Multiple Endocrine Neoplasia Type 2 |
|
Pallor, Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma |
ORPHA:653 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Optic nerve hypoplasia, Postaxial polydactyly, Microcephaly, Growth delay, Hip dysplasia, Branchi... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Optic nerve hypoplasia, Postaxial polydactyly, Microcephaly, Growth delay, Hip dysplasia, Branchi... |
ORPHA:352665 |
| Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, Short stature, Congestive heart failure, 3-4 finger cutaneous syndactyly, 2-3 ... |
OMIM:181270 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Syndactyly, Short metacarpal, Scapular winging, Mild postnatal growth retardation, Single transve... |
OMIM:150230 |
| Lowe Oculocerebrorenal Syndrome |
|
Short stature, Camptodactyly of finger, Wrist swelling, Postnatal growth retardation, Hip disloca... |
OMIM:309000 |
| Monosomy 22 |
|
Finger syndactyly, Single transverse palmar crease, Microcephaly, Clubbing, Clinodactyly of the 5... |
ORPHA:96123 |
| Pearson Marrow-Pancreas Syndrome |
|
Erythema, Pallor |
OMIM:557000 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Schizencephaly, Cerebral hemorrhage, Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Retin... |
OMIM:175780 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Hypertension, Pallor, Hypertensive crisis |
ORPHA:544482 |
| Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida, Microcephaly |
ORPHA:322 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hallux valgus, Congenital hip dislocation, Overlapping toe, Cerebellar vermis hypoplasia, Postaxi... |
ORPHA:480880 |
| Robinow Syndrome |
|
Syndactyly, Brachydactyly, Short stature, Bifid distal phalanx of the thumb, Mesomelic arm shorte... |
ORPHA:97360 |
| Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Severe short stature, Short stature, Camptodactyly of finger, Micromelia, Coxa... |
ORPHA:3107 |
| Lymphedema-Distichiasis Syndrome |
|
Microphthalmia, Arrhythmia |
OMIM:153400 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Cerebellar vermis hypoplasia, Narrow greater sciatic notch, Short palm, Agenesis of corpus callos... |
OMIM:312870 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Palmoplantar hyperkeratosis, Bilateral single transverse palma... |
ORPHA:3253 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Absent septum pellucidum, Dysplastic corpus callosum, Secondary microcephaly, Holopro... |
OMIM:618820 |
| Mullegama-Klein-Martinez Syndrome |
|
Clinodactyly of the 5th finger, Polydactyly, Short stature, Microcephaly |
OMIM:301022 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Split hand |
ORPHA:1300 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly, Mild postnatal growth retardation |
OMIM:224120 |
| Mckusick-Kaufman Syndrome |
|
Syndactyly, Postaxial hand polydactyly, Congenital hip dislocation, Mesoaxial hand polydactyly |
OMIM:236700 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Short stature, Hip dislocation, Skin ulcer, Genu valgum, Buphthalmos, Umbilical hernia, Abnormal ... |
ORPHA:534 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cerebellar vermis hypoplasia, Calcaneovalgus deformity, Large basal ganglia, Agenesis of corpus c... |
ORPHA:261537 |
| Tetraamelia Syndrome 1 |
|
Microphthalmia, Hydrocephalus, Hypoplastic pelvis |
OMIM:273395 |
| Fraser Syndrome 3 |
|
Short toe, Hydrocephalus, Cutaneous syndactyly |
OMIM:617667 |
| Holoprosencephaly 2 |
|
Alobar holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Holoprosencephaly, Microphthalmia,... |
OMIM:157170 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Short stature, Down-sloping shoulders, Short foot, Clinodactyly of the 5th fin... |
ORPHA:1974 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Short stature, Postaxial polydactyly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short lo... |
OMIM:617088 |
| Lacrimoauriculodentodigital Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... |
ORPHA:2363 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cerebellar vermis hypoplasia, Calcaneovalgus deformity, Large basal ganglia, Agenesis of corpus c... |
ORPHA:261552 |
| Coffin-Siris Syndrome 12 |
|
Short stature, Microcephaly, Short thumb, Slender finger, Noncommunicating hydrocephalus, Heart m... |
OMIM:619325 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aortic regurgitation, Syndactyly, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, P... |
OMIM:619534 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Treacher-Collins Syndrome |
|
Encephalocele, Microphthalmia, Branchial fistula |
ORPHA:861 |
| Doors Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Microcephaly, Abnormal toe morphology, Abnorm... |
ORPHA:79500 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... |
OMIM:149730 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Short stature, Genu varum |
ORPHA:1969 |
| Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
| Mowat-Wilson Syndrome |
|
Cerebellar vermis hypoplasia, Calcaneovalgus deformity, Large basal ganglia, Agenesis of corpus c... |
ORPHA:2152 |
| Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Macrodactyly, Sudden cardiac death, Metatarsus valgus, Pulmonar... |
ORPHA:744 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Short toe, Clinodactyly of the 5th finger, Umbilical hernia, Arrhythmia, Brach... |
ORPHA:1519 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Cerebellar vermis hypoplasia, Sandal gap, Optic nerve hypoplasia, Microcephaly, Long fingers, Cut... |
OMIM:620330 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature |
ORPHA:1521 |
| Mowat-Wilson Syndrome |
|
Short stature, Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal ganglia... |
OMIM:235730 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Transient ischemic attack, Duplication of thumb phalanx, Microcephaly, Pachygyria, Macrogyria, Gr... |
ORPHA:2995 |
| Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Erythema, Palmoplantar keratoderma, Short 4th metacar... |
ORPHA:2908 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Microcephaly, Hypoplasia of the iris, Delayed puberty, Aplasia/Hy... |
ORPHA:649 |
| Goodpasture Syndrome |
|
Pallor, Pulmonary hemorrhage |
OMIM:233450 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail... |
ORPHA:99125 |
| Hennekam Syndrome |
|
Finger syndactyly, Pachygyria, Mild postnatal growth retardation, Camptodactyly of finger |
ORPHA:2136 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Palmoplantar keratoderma |
ORPHA:1071 |
| Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
