| Gombo Syndrome |
|
Clinodactyly, Radial deviation of finger, Microphthalmia, Microcephaly, Brachydactyly |
OMIM:233270 |
| Familial Benign Chronic Pemphigus |
|
Skin vesicle, Skin erosion, Erythema, Acantholysis, Hyperkeratosis |
ORPHA:2841 |
| Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
| Polydactyly, Preaxial Ii |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... |
OMIM:174500 |
| Synpolydactyly 1 |
|
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... |
OMIM:186000 |
| Syndactyly, Type Iv |
|
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... |
OMIM:186200 |
| Darier Disease |
|
Skin vesicle, Plantar pits, Acrokeratosis, Macule, Hypermelanotic macule, Palmoplantar keratoderm... |
ORPHA:218 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Thick corpus callosum, Macrocephaly, Hydrocephalus, Syndactyly, Megalencephaly, Postaxial hand po... |
OMIM:615938 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Recurrent cutaneous fungal infections, Hyperkeratosis, Palmoplantar keratoderma |
OMIM:244850 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... |
ORPHA:3246 |
| Syndactyly Type 1 |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly |
ORPHA:93402 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly, Microcephaly |
OMIM:271109 |
| Congenital Panfollicular Nevus |
|
Hamartoma, Pruritus, Hyperkeratosis |
ORPHA:139414 |
| Syndactyly, Type Iii |
|
4-5 finger syndactyly, Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger |
OMIM:186100 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis |
OMIM:146750 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Milia, Hyperkeratosis |
OMIM:131800 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus |
OMIM:234280 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
| Dowling-Degos Disease |
|
Palmar pits, Skin vesicle, Hyperkeratotic papule, Hyperpigmented papule, Digital pitting scar, Ep... |
ORPHA:79145 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Facial erythema, Palmoplantar erythema, Striae distensae, Skin vesicle, Urticarial plaque, Parake... |
ORPHA:64745 |
| Ichthyosis Hystrix, Lambert Type |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis |
OMIM:146600 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Palmoplantar keratoderma, Follicular hyperkeratosis, Perioral hyperkeratosis |
OMIM:613000 |
| Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
| Brachydactyly, Type C |
|
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... |
OMIM:113100 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Abnormality of the upper limb, Finger syndactyly, Clinodactyly of the 5th finger, Bilateral singl... |
ORPHA:1891 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Spina bifida, Toe syndactyly, Spina bifida occulta, Preaxial polydactyly, Micr... |
ORPHA:64754 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Holoprosencephaly, Anophthalmia |
OMIM:611638 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... |
OMIM:174700 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Microcephaly |
OMIM:616335 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly |
OMIM:174200 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
| Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly |
OMIM:263450 |
| Erythema Elevatum Diutinum |
|
Skin vesicle, Skin nodule |
ORPHA:90000 |
| Pemphigoid Gestationis |
|
Skin vesicle |
ORPHA:63275 |
| Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis, Neoplasm, Neoplasm of the skin |
ORPHA:315 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Meckel Syndrome, Type 8 |
|
Polydactyly, Encephalocele, Anophthalmia, Microphthalmia, Microcephaly, Occipital encephalocele, ... |
OMIM:613885 |
| Lichen Planus Pemphigoides |
|
Skin vesicle, Hyperkeratosis |
ORPHA:254478 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
| Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Spina bifida, Synostosis of carp... |
ORPHA:957 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly, Microcephaly |
OMIM:241000 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Perifolliculitis, Chronic furunculosis, Acne inversa, Squamous cell carcinoma, Recurrent cutaneou... |
OMIM:613736 |
| Mmep Syndrome |
|
Triphalangeal thumb, Split foot, Microphthalmia, Microcephaly |
ORPHA:3434 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Milia, Localized skin lesion, Hyperkeratotic papule, Skin vesicle, Keloids, Atrophic scars, Skin ... |
ORPHA:79410 |
| Jawad Syndrome |
|
Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... |
OMIM:251255 |
| Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... |
ORPHA:93406 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis |
ORPHA:735 |
| Pemphigus Foliaceus |
|
Skin vesicle, Annular cutaneous lesion, Acantholysis, Scaling skin, Skin erosion, Erythema, Eryth... |
ORPHA:79481 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
| Wahab Syndrome |
|
Short foot, Short metacarpal, Clinodactyly, Camptodactyly, Adducted thumb, Syndactyly, Short thum... |
OMIM:615170 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Cerebellar hypoplasia, Agenesis of corpus callosum, Microcephaly, Microphthalmia, Rocker bottom f... |
OMIM:616570 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Cutaneous finger syndactyly, Duplication of metatarsal bones, Aplasia/Hypoplasia of toe, Syndacty... |
OMIM:600384 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Skin vesicle, Erythema migrans, Palmoplantar hyperkeratosis |
ORPHA:158681 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Orbital encephalocele, Agenesis of corpus callosum, Congenital hip dislocation, Mic... |
OMIM:164180 |
| Syndactyly Type 3 |
|
Camptodactyly of finger, Short toe, Finger syndactyly |
ORPHA:93404 |
| Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
| Santos Syndrome |
|
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
| Porokeratosis |
|
Pruritus, Squamous cell carcinoma of the skin, Hyperkeratosis |
ORPHA:79358 |
| Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Hydrocephalus, Holoprosencephaly, Postaxial h... |
ORPHA:945 |
| Acropectorovertebral Dysplasia |
|
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... |
OMIM:102510 |
| Dermatoleukodystrophy |
|
Hyperkeratosis |
ORPHA:1659 |
| Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
| Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Hip dysplasia, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
| Frontal Encephalocele |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Spina bifida, Macrocephaly, Hydrocephal... |
ORPHA:1931 |
| Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... |
ORPHA:1892 |
| Ulnar Hemimelia |
|
Spinal dysraphism, Sclerotic forearm bones, Humeroradial synostosis, Aplasia of metacarpal bones,... |
ORPHA:93320 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Joint contracture of the hand, Spina bifida, Dermatoglyphic ridges abnormal, Camptodactyly, Small... |
OMIM:211960 |
| Split-Hand/Foot Malformation 4 |
|
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the... |
OMIM:605289 |
| Brachydactyly, Type A2 |
|
2-3 toe syndactyly, Triangular shaped middle phalanx of the 2nd finger, Hallux valgus, Short midd... |
OMIM:112600 |
| Brachydactyly Type A7 |
|
Broad distal phalanx of the thumb, 2-3 toe syndactyly, Short middle phalanx of the 5th toe, Hallu... |
ORPHA:93397 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Focal polymicrogyria, Hypoplasia of the brainstem, Primary microcephaly, Thin corpus callosum, Dy... |
OMIM:615771 |
| Liebenberg Syndrome |
|
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... |
OMIM:186550 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyl... |
ORPHA:139471 |
| Crossed Polysyndactyly |
|
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly |
ORPHA:2935 |
| Humero-Radial Synostosis |
|
Meningocele, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia affecting the eye, Elbow ankylos... |
ORPHA:3265 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
| Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands, Cutaneous syndactyly |
OMIM:185900 |
| Microphthalmia With Limb Anomalies |
|
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Anophthalmia, Hip ... |
OMIM:206920 |
| Heart-Hand Syndrome, Slovenian Type |
|
Clinodactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Brac... |
OMIM:610140 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... |
ORPHA:157801 |
| Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy, Clinodactyly of the 5th finger, Sandal gap, Microcephaly |
OMIM:251220 |
| Brachydactyly-Syndactyly Syndrome |
|
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... |
OMIM:610713 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
| Iga Pemphigus |
|
Skin vesicle, Annular cutaneous lesion, Skin plaque, Skin erosion, Acantholysis |
ORPHA:555905 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Finger syndactyly, Clinodactyly of the 5th finger, Radioulnar synostosi... |
ORPHA:3268 |
| Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ... |
OMIM:615297 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly |
OMIM:213010 |
| Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Agenesis... |
ORPHA:380 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Toe syndactyly, Abnor... |
ORPHA:1113 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology, Syndactyly |
ORPHA:294975 |
| Fibular Hemimelia |
|
Short tibia, Hip subluxation, Hypoplastic acetabulae, Toe syndactyly, Short femur, Ectrodactyly, ... |
ORPHA:93323 |
| Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Mesoaxial foot polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Aplasia/Hypoplasia of the pha... |
ORPHA:488232 |
| Aplasia Cutis Congenita |
|
Toe syndactyly, Spinal dysraphism, Finger syndactyly |
ORPHA:1114 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Dermatitis Herpetiformis |
|
Skin vesicle, Macule, Erythema |
ORPHA:1656 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd... |
OMIM:618167 |
| Syndactyly, Type V |
|
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... |
OMIM:186300 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Microphthalmia, Brachydactyly |
OMIM:610023 |
| Fanconi Anemia, Complementation Group G |
|
Microcephaly, Microphthalmia, Abnormal thumb morphology |
OMIM:614082 |
| Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Cerebellar hypoplasia, Arrhinencephaly, Hydrocephalus, Lissencephaly, Micr... |
ORPHA:1528 |
| Pyoderma Gangrenosum |
|
Skin vesicle, Atrophic scars, Skin ulcer, Papule |
ORPHA:48104 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Foot oligodactyly, Toe syndactyly, Hand oligodactyly, Split foot, Split hand |
OMIM:225300 |
| Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
| Wells Syndrome |
|
Skin vesicle |
ORPHA:901 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Follicular hyperkeratosis |
OMIM:613102 |
| Meckel Syndrome, Type 2 |
|
Meningocele, Polydactyly, Encephalocele, Anencephaly, Microphthalmia, Postaxial hand polydactyly,... |
OMIM:603194 |
| Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... |
OMIM:183600 |
| 15Q11Q13 Microduplication Syndrome |
|
Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Dermal atrophy, Skin vesicle, Aplasia/Hypoplasia of the skin, Papule |
ORPHA:257 |
| Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Agenesis of cerebellar vermis, Anencephaly, Hydrocephalus, Microphtha... |
OMIM:611134 |
| Craniotelencephalic Dysplasia |
|
Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, Microphthalmia, Ab... |
OMIM:218670 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Joubert Syndrome 22 |
|
2-3 toe syndactyly, Postaxial foot polydactyly, Microphthalmia, Hypoplasia of the corpus callosum... |
OMIM:615665 |
| Meckel Syndrome, Type 5 |
|
Anencephaly, Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, Occipital en... |
OMIM:611561 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus, Microphthalmia, Preaxial polydactyly |
ORPHA:141333 |
| Congenital Varicella Syndrome |
|
Cerebral cortical atrophy, Microphthalmia, Microcephaly |
ORPHA:291 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius |
ORPHA:2476 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus |
OMIM:618531 |
| Anophthalmia Plus Syndrome |
|
Spina bifida, Deviation of finger, Anophthalmia |
ORPHA:1104 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Long proximal phalanx of finger, Genu valgum, Spinal dysraphism, Metaphyseal irregularity, Delaye... |
OMIM:603546 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Cavum septum pellucidum, Hydrocephalus, Syndactyly, Megalencephaly, Microphthalmia, ... |
OMIM:602501 |
| Acquired Ichthyosis |
|
Lymphoma, Pruritus, Sarcoma, Multiple myeloma, Neoplasm, Hyperkeratosis, Recurrent skin infection... |
ORPHA:454 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Prox... |
OMIM:609432 |
| Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the fibula, Hypoplastic pubic bone, Spina bifida, ... |
ORPHA:2839 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Dyskeratosis Congenita |
|
Anorectal anomaly, Skin vesicle, Abnormal testis morphology, Malabsorption, Skin ulcer, Esophagea... |
ORPHA:1775 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Genu valgum, Clinodactyly, Macrocephaly, Spindle-shaped finger, Cerebral atrophy, Hypoplasia of t... |
ORPHA:166024 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
| Brachydactyly Type B |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... |
ORPHA:93383 |
| Seckel Syndrome 2 |
|
Cerebellar hypoplasia, Heart murmur, Clinodactyly of the 5th finger, Microcephaly, Microphthalmia |
OMIM:606744 |
| Hydrolethalus |
|
Anophthalmia, Anencephaly, Arrhinencephaly, Hydrocephalus, Microphthalmia, Postaxial hand polydac... |
ORPHA:2189 |
| 2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndacty... |
ORPHA:1617 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Septooptic Dysplasia |
|
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia, Absent septum pellucidu... |
OMIM:182230 |
| Brachydactyly Type B2 |
|
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... |
ORPHA:140908 |
| Split-Hand/Foot Malformation 2 |
|
Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand |
OMIM:313350 |
| Lissencephaly 8 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Agyria, Type II lissencephaly, Microphthalmia... |
OMIM:617255 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans, Pruritus, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:409 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Recurrent skin infections |
ORPHA:79503 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrocephalus, Cerebellar vermis hypoplasia, ... |
OMIM:613155 |
| Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Palmoplantar keratoderma, Squamous cell carcinoma of the skin |
ORPHA:85112 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Short toe, Hallux valgus, Spina bifida, Toe syndactyly, Short distal pha... |
ORPHA:1327 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Split foot, Split hand, 4-5 toe syndactyly, Mesoaxial hand polydactyly |
OMIM:616890 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Type II lissencephaly, Hydrocephalus, Microphthalmia, Cerebellar hypoplasia |
OMIM:614830 |
| Synpolydactyly 2 |
|
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
| Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
| Czeizel-Losonci Syndrome |
|
Myelomeningocele, 2-3 finger syndactyly, Spina bifida, Hydrocephalus, Clubbing of toes, Spina bif... |
ORPHA:2437 |
| Acropectoral Syndrome |
|
Triphalangeal thumb, Preaxial polydactyly, Partial duplication of thumb phalanx |
OMIM:605967 |
| Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Polydactyly, Clinodactyly, Postaxial polydactyly |
OMIM:615984 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar hypoplasia, Simplified gyral pattern, Hypoplasia of the pons, Partial agenesis of the ... |
OMIM:616171 |
| Bardet-Biedl Syndrome 22 |
|
Polydactyly, Macrocephaly, Microcephaly, Postaxial foot polydactyly |
OMIM:617119 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Orthokeratotic hyperkeratosis, Pruritus, Hyperkeratosis |
OMIM:617571 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Joint contracture of the hand, 2-3 finger syndactyly, 2-4 finger syndactyly, Camptodactyly, 1-4 f... |
OMIM:225280 |
| Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Microphthalmia, Microcephaly |
ORPHA:3469 |
| Curry-Jones Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Foot polydactyly, Broad thumb, Micr... |
ORPHA:1553 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:615113 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna |
OMIM:314360 |
| Hartsfield Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Lobar holoprosencephaly, Aplasia/Hypopl... |
ORPHA:2117 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Hallux valgus, Short mid... |
ORPHA:93409 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Type II lissencephaly, Microphthalmia, Occipital encephalocele, Macrocephaly at birth |
ORPHA:324416 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
| Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Cranium bifidum occultum, Joint contracture of the hand, Pectoral m... |
OMIM:136760 |
| Temtamy Syndrome |
|
Short toe, Genu varum, Aplasia/Hypoplasia of the corpus callosum, Macrocephaly, Clinodactyly of t... |
ORPHA:1777 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Triphalangeal thumb, Preaxial hand polydactyly, Spina bifida, Abnormal thumb morphology, Proximal... |
ORPHA:1120 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Microcephaly |
OMIM:278780 |
| Carpenter Syndrome |
|
Umbilical hernia, Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot poly... |
ORPHA:65759 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Hyperkeratosis, Erythroderma |
OMIM:615024 |
| Microphthalmia, Syndromic 8 |
|
Split foot, Microphthalmia, Microcephaly |
OMIM:601349 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Agenesis of corpus callosum, Microphthalmia, Cerebral atrophy, Microcephaly |
OMIM:274270 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
| Braddock-Carey Syndrome 2 |
|
Clinodactyly, Microphthalmia, Microcephaly |
OMIM:619981 |
| Walker-Warburg Syndrome |
|
Metatarsus valgus, Anophthalmia, Abnormal cortical gyration, Cerebellar hypoplasia, Macrogyria, H... |
ORPHA:899 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Microcephaly |
ORPHA:2528 |
| Meckel Syndrome, Type 11 |
|
Polydactyly, Occipital encephalocele |
OMIM:615397 |
| Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Hip dislocation, Elbow dislocation, Postaxial hand polydactyly, Tali... |
ORPHA:1106 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap... |
ORPHA:370010 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Cofs Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Cerebra... |
ORPHA:1466 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Oligodactyly, Split hand, Absent hand, Aniridia |
ORPHA:2440 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Facial Clefting, Oblique, 1 |
|
Deep palmar crease, Microphthalmia |
OMIM:600251 |
| Schisis Association |
|
Spina bifida, Anencephaly, Encephalocele, Microcephaly |
ORPHA:63862 |
| Proximal Symphalangism |
|
Camptodactyly of finger, Metacarpophalangeal synostosis, Finger syndactyly, Elbow ankylosis, Syno... |
ORPHA:3250 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Neonatal death, Aplasia cutis congenita of scalp, Esophageal stenosis... |
OMIM:619817 |
| Trisomy 1Q |
|
Camptodactyly of finger, Preaxial hand polydactyly, Anophthalmia, Cerebellar hypoplasia, Toe synd... |
ORPHA:261344 |
| Adams-Oliver Syndrome 3 |
|
Short 5th toe, 2-3 toe syndactyly, Short metatarsal, Microcephaly, Absent toe, Short distal phala... |
OMIM:614814 |
| Brachydactyly, Type B2 |
|
Absent phalangeal crease, Proximal symphalangism of hands, Aplasia/Hypoplasia of the middle phala... |
OMIM:611377 |
| Hypomelanosis Of Ito |
|
Clinodactyly, Hand polydactyly, Macrocephaly, Syndactyly, Radial deviation of finger, Microcephal... |
OMIM:300337 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the thumb, Spinal dysrap... |
ORPHA:1908 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Syndactyly, Aborted sudden cardiac death... |
OMIM:618447 |
| Femur-Fibula-Ulna Complex |
|
Abnormality of the elbow, Finger syndactyly, Humeroradial synostosis, Abnormal morphology of ulna... |
ORPHA:2019 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Pelvis-Shoulder Dysplasia |
|
Hypoplastic acetabulae, Hypoplastic ilia, Clinodactyly of the 5th finger, Spina bifida occulta, C... |
OMIM:169550 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617526 |
| Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Orthokeratosis |
OMIM:604117 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Syndactyly, Macrocephaly, Tapered finger, Clinodactyly of the 5th finger |
OMIM:618725 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Milia, Spotty hypopigmentation, Papule, Plantar hyperkeratosis, Palmar hyperkeratosis, Hypermelan... |
ORPHA:79399 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hypoplastic iliac wing, Metaphyseal cupping, Hydrocephalus, Macrocephaly, Metaphyseal cupping of ... |
OMIM:300863 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Milia, Localized skin lesion, Esophageal stricture, Corneal erosion, Vaginal stricture, Atrophic ... |
ORPHA:79409 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:617525 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the corpus callosum, Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia |
ORPHA:411986 |
| Fountain Syndrome |
|
Large hands, Spina bifida, Abnormal metacarpal morphology, Coarse metaphyseal trabecularization, ... |
ORPHA:3219 |
| Porphyria Variegata |
|
Milia, Localized skin lesion, Skin vesicle, Hepatocellular carcinoma, Skin erosion, Ileus |
ORPHA:79473 |
| Warburg Micro Syndrome 1 |
|
Perisylvian polymicrogyria, Cerebellar hypoplasia, Overlapping toe, Microphthalmia, Microcephaly,... |
OMIM:600118 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Clinodactyly, Syndactyly, Microcephaly, Pachygyria, Hypoplasia of the corpus callosum, Cerebral w... |
OMIM:619091 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Microcephaly |
OMIM:147250 |
| Curry-Jones Syndrome |
|
Hemimegalencephaly, Preaxial hand polydactyly, 2-3 finger syndactyly, Preaxial foot polydactyly, ... |
OMIM:601707 |
| Fanconi Anemia, Complementation Group J |
|
Short thumb, Microphthalmia |
OMIM:609054 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Aminopterin Syndrome Sine Aminopterin |
|
Joint contracture of the hand, Clinodactyly, Macrocephaly, Brachydactyly, Syndactyly, Megalenceph... |
OMIM:600325 |
| 17Q12 Microduplication Syndrome |
|
Toe syndactyly, Microphthalmia, Finger syndactyly, Cortical dysplasia |
ORPHA:261272 |
| Orofaciodigital Syndrome Xviii |
|
Genu valgum, Single transverse palmar crease, Preaxial polydactyly, Sandal gap, Brachydactyly, Sh... |
OMIM:617927 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cerebellar hypoplasia, Simplified gyral pattern, Microphthalmia, Pachygyria, Microcephaly, Cerebr... |
OMIM:251270 |
| Joubert Syndrome 40 |
|
Postaxial polydactyly, Optic nerve hypoplasia |
OMIM:619582 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Dermal atrophy, Thin skin, Milia, Esophageal stricture, Palmoplantar hyperkeratosis, Erythema, Er... |
ORPHA:158673 |
| Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Cutaneous finger syndactyly, Toe syndactyly, Split foot, Split hand |
DECIPHER:46 |
| Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Cerebellar hypoplasia, Spina bifida, Toe syndactyly, Lissencephaly, Microcepha... |
OMIM:616038 |
| Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
| Meckel Syndrome, Type 3 |
|
Polydactyly, Hydrocephalus, Postaxial foot polydactyly, Postaxial hand polydactyly, Occipital enc... |
OMIM:607361 |
| Chiari Malformation Type Ii |
|
Myelomeningocele, Spina bifida, Hydrocephalus, Syringomyelia, Cervical myelopathy, Agenesis of co... |
OMIM:207950 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormality of the upper limb, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Clinodactyly ... |
ORPHA:2141 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Conjunctivitis, Milia, Esophageal stricture, Corneal scarring, Atrophic scars, Cataract, Abnormal... |
OMIM:226600 |
| Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida, Bifid sternum |
ORPHA:63260 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Patchy palmoplantar hyperkeratosis, Generalized hyperkeratosis, Erythroderma |
OMIM:133200 |
| Epidermolysis Bullosa Simplex 1A, Generalized Severe |
|
Milia, Atrophic scars, Palmoplantar hyperkeratosis |
OMIM:131760 |
| Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Joint contracture of the hand, Preaxial foot polydactyly, Agenesis of ... |
OMIM:175700 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Leukoencephalopathy, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrocephalus, Optic ner... |
OMIM:615181 |
| Infantile Digital Fibromatosis |
|
Parakeratosis, Hyperkeratosis |
ORPHA:199267 |
| Trisomy 13 |
|
Anophthalmia, Aplasia/Hypoplasia of the iris, Abnormal pelvic girdle bone morphology, Microphthal... |
ORPHA:3378 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia, Microcephaly |
OMIM:300915 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Abnormally large globe, Thick corpus callosum, Hydrocephalus, Macrocephaly, Mitral regurgitation,... |
OMIM:603387 |
| Periventricular Nodular Heterotopia 1 |
|
Cerebral hemorrhage, Cerebellar hypoplasia, Thin corpus callosum, Short finger, Clinodactyly, Syn... |
OMIM:300049 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Skin vesicle, Skin ulcer, Papule |
ORPHA:2314 |
| Joubert Syndrome 16 |
|
Polydactyly, Encephalocele, Dandy-Walker malformation |
OMIM:614465 |
| Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormality of tibia morphology, Split hand, Abnormality of... |
ORPHA:2492 |
| Pierpont Syndrome |
|
Short toe, Abnormal cortical gyration, Primary microcephaly, Short finger, Excessive wrinkling of... |
ORPHA:487825 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
2-3 toe syndactyly, Anophthalmia, Macrocephaly, Microphthalmia, 3-4 finger syndactyly |
OMIM:615877 |
| Hennekam-Beemer Syndrome |
|
Skin vesicle, High palate, Papule, Macule, Subcutaneous nodule, Erythema |
ORPHA:2135 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral pattern, Agyria, Hydrocephal... |
OMIM:613153 |
| Tylosis With Esophageal Cancer |
|
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Follicular hyperkeratosis, Esophageal carcinoma |
OMIM:148500 |
| Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Anophthalmia |
ORPHA:66625 |
| Summitt Syndrome |
|
Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Finger syndactyly, Macrocephaly, Clin... |
ORPHA:3210 |
| Moebius Syndrome |
|
Short phalanx of finger, Hand clenching, Hypoplasia of the brainstem, Aplasia/Hypoplasia involvin... |
OMIM:157900 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Thin corpus callosum, Camptodactyly, Down-sloping shoulders, Microphthalmia, Microcephaly, Cubitu... |
OMIM:619694 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Cerebellar hypoplasia, Hydrocep... |
ORPHA:163966 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Absent radius,... |
OMIM:135750 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenesis of corpus callosum |
ORPHA:77298 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Aplastic clavicle, Anophthalmia, Abnormal finger morphology, Abnormal cortical gyration, Abnormal... |
ORPHA:2538 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Milia, Atrophic scars, Palmoplantar hyperkeratosis, Skin erosion, Hyperkeratosis, Aplasia cutis c... |
ORPHA:89838 |
| Gordon Syndrome |
|
Camptodactyly of finger, Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:376 |
| Nail-Patella Syndrome |
|
Biceps aplasia, Patellar hypoplasia, Patellar aplasia, Hypoplastic radial head, Spina bifida, Ili... |
OMIM:161200 |
| Epidermolysis Bullosa Simplex 1B, Generalized Intermediate |
|
Milia, Palmoplantar hyperkeratosis |
OMIM:131900 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
2-3 toe syndactyly, Lens coloboma, Sandal gap, Joint contracture of the 5th finger, Brachydactyly... |
OMIM:618914 |
| Psoriasis 2 |
|
Parakeratosis, Psoriasiform dermatitis, Hyperkeratosis |
OMIM:602723 |
| Nephronophthisis 15 |
|
Polydactyly, Cerebellar vermis hypoplasia |
OMIM:614845 |
| Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... |
OMIM:619350 |
| Chronic Graft Versus Host Disease |
|
Gastroesophageal reflux, Skin vesicle, Esophageal stricture, Intermittent generalized erythematou... |
ORPHA:99921 |
| Pierpont Syndrome |
|
Short toe, Short foot, Short finger, Microphthalmia, Microcephaly, Deep palmar crease, Short palm... |
OMIM:602342 |
| Sweet Syndrome |
|
Skin vesicle, Pyoderma gangrenosum, Skin nodule, Inflammation of the large intestine, Erythematou... |
ORPHA:3243 |
| Adams-Oliver Syndrome 2 |
|
Cerebellar hypoplasia, Hydrocephalus, Macrocephaly, Single transverse palmar crease, Absent dista... |
OMIM:614219 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
| Meckel Syndrome, Type 10 |
|
Cerebellar hypoplasia, Anencephaly, Camptodactyly, Dandy-Walker malformation, Postaxial foot poly... |
OMIM:614175 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Cobblestone-like hyperkeratosis, Squamous cell carcinoma, Palmoplantar hyperkeratosis, Palmoplant... |
OMIM:602540 |
| Joubert Syndrome 18 |
|
Agenesis of cerebellar vermis, Arrhinencephaly, Agenesis of corpus callosum, Camptodactyly, Occip... |
OMIM:614815 |
| Camptobrachydactyly |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ulna... |
ORPHA:1319 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Abnormality of the hand, Fibular a... |
OMIM:246570 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Camptodactyly of finger, Wrist flexion contracture, Flexion contracture of toe, Cerebellar hypopl... |
OMIM:610758 |
| Grange Syndrome |
|
Aortic regurgitation, Syndactyly, Short palm, Hypertension |
ORPHA:79094 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Absent thumb, Coxa valga, Hip dislocation, Syringomyelia, Phocomelia, Ta... |
OMIM:274000 |
| Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Squamous cell carcinoma of the skin |
OMIM:181600 |
| Joubert Syndrome 10 |
|
Macrocephaly, Postaxial polydactyly, Cerebellar vermis hypoplasia |
OMIM:300804 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Esophageal food impaction, Gastroesophageal reflux, Eosinophilic infiltration of the esophagus, E... |
ORPHA:411696 |
| Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Abnormal palmar dermatoglyphics, Finger syndactyly, Spina bifida, Toe sy... |
ORPHA:2092 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Proximal placement of thumb, Abnormal metaphysis morphology, Abnormal epiphysis m... |
ORPHA:93267 |
| Al-Gazali-Bakalinova Syndrome |
|
Polydactyly, Genu valgum, Tapered finger, Clinodactyly, Macrocephaly, Epiphyseal dysplasia, Flatt... |
OMIM:607131 |
| Olmsted Syndrome, X-Linked |
|
Palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Subungual hyperkeratosis, Palmoplanta... |
OMIM:300918 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Hypoplasia of the brainstem, Cerebellar hypoplasia, Agyria, Hydrocephalus... |
OMIM:615249 |
| Pilomatrixoma |
|
Pilomatrixoma, Pruritus, Neoplasm of head and neck |
ORPHA:91414 |
| Meckel Syndrome |
|
Preaxial hand polydactyly, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the corpus callosum... |
ORPHA:564 |
| Bazex Syndrome |
|
Pruritus, Lung adenocarcinoma, Parakeratosis, Neoplasm, Hyperkeratosis, Liposarcoma, Palmoplantar... |
ORPHA:166113 |
| Monosomy 5P |
|
Finger syndactyly, Small hand, Microcephaly |
ORPHA:281 |
| Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Anophthalmia, Spina bifida, Hypoplasia of the radius, Arrhinencephaly, Hydro... |
ORPHA:3412 |
| Sclerosteosis |
|
2-3 finger syndactyly, Curved distal phalanges of the hand, Diaphyseal thickening, Finger syndactyly |
ORPHA:3152 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
2-3 toe syndactyly, Preaxial hand polydactyly, Short 5th finger, Spina bifida, Broad phalanx, Per... |
ORPHA:508498 |
| Caudal Duplication |
|
Spina bifida, Spinal cord lesion, Myelomeningocele |
ORPHA:1756 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastroesophageal reflux, Abnormal large intestine morphology, Esophageal neoplasm, Abnormal esoph... |
ORPHA:2198 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Anophthalmia, Hydrocephalus, Macrocephaly, Dandy-Walker malformation, Optic nerve ... |
OMIM:605627 |
| Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Orthokeratosis |
OMIM:618084 |
| Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
| Adams-Oliver Syndrome |
|
Pulmonary arterial hypertension, Abnormality of the upper limb, Encephalocele, Finger syndactyly,... |
ORPHA:974 |
| Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Polydactyly, Short 4th metacarpal, Spina bifida, Hydrocephalus, Macrocephaly, Down-s... |
OMIM:109400 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Short long bone, Cutaneous finger syndactyly, Camptodactyly, Synda... |
OMIM:113000 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Spina bifida, Biparietal narrowing, Hip dislocation, Dandy-Walker malfor... |
ORPHA:99776 |
| Joubert Syndrome 14 |
|
Meningocele, Hypoplasia of the brainstem, Encephalocele, Hydrocephalus, Intracranial hemorrhage, ... |
OMIM:614424 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Hereditary Mucoepithelial Dysplasia |
|
Anorectal anomaly, Corneal dystrophy, Tracheoesophageal fistula, Cataract, Furrowed tongue, Hyper... |
ORPHA:1839 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia affecting the eye, Spinal dysraphism, Ap... |
ORPHA:1926 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Microcephaly, Hypoplastic ischia |
OMIM:616910 |
| Isolated Klippel-Feil Syndrome |
|
Spina bifida, Abnormal shoulder morphology |
ORPHA:2345 |
| Camptobrachydactyly |
|
Short toe, Congenital finger flexion contractures, Hand polydactyly, Syndactyly, Brachydactyly |
OMIM:114150 |
| Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial foot polydactyly, Syndactyly, Brachydactyly, Postaxial hand polydactyly, P... |
OMIM:615986 |
| 14Q22Q23 Microdeletion Syndrome |
|
Short 4th metacarpal, Short foot, Short 5th metacarpal, Finger syndactyly, Toe syndactyly, Anopht... |
ORPHA:264200 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
| Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Uterine leiomyosarcoma, Esophageal neoplasm, Vaginal neoplasm, Cataract, Uterine leiomyoma, Barre... |
ORPHA:523 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, Absent distal phalanges, Small hand, 2-5 finger cutaneous syndactyly |
OMIM:619339 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Achalasia, Hypo... |
ORPHA:1018 |
| Kindler Syndrome |
|
Dermal atrophy, Corneal erosion, Phimosis, Spotty hypopigmentation, Esophageal stenosis, Symbleph... |
OMIM:173650 |
| Cerebrocostomandibular Syndrome |
|
Meningocele, Myelomeningocele, Spina bifida, Porencephalic cyst, Clinodactyly of the 5th finger, ... |
ORPHA:1393 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Small cerebral cortex, Cerebellar hypoplasia, Simplified gyral pattern, Arrhinencephaly, Optic ne... |
OMIM:617914 |
| Trisomy 18 |
|
Camptodactyly of finger, Abnormality of the upper limb, Aplasia/Hypoplasia of the corpus callosum... |
ORPHA:3380 |
| Congenital Toxoplasmosis |
|
Cerebral calcification, Hydrocephalus, Microphthalmia, Microcephaly |
ORPHA:858 |
| Orofaciodigital Syndrome Iv |
|
Short tibia, Toe syndactyly, Foot polydactyly, Porencephalic cyst, Short finger, Hand polydactyly... |
OMIM:258860 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Clinodactyly, Camptodactyly, Osteolysis involving bones of the upper ... |
ORPHA:88630 |
| Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Microphthalmia |
ORPHA:2547 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Finger syndactyly, Cerebral ischemia, Toe syndactyly, Foot ... |
ORPHA:60040 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Camptodactyly of finger, Microphthalmia, Rocker bottom foot, Microcephaly |
OMIM:610756 |
| Bresek Syndrome |
|
Hydrocephalus, Optic nerve hypoplasia, Microphthalmia, Microcephaly, Postaxial hand polydactyly |
ORPHA:85284 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, Anophthalmia, Ulnar deviation of finger, Aniridia, Mitral regurgitation,... |
ORPHA:1101 |
| Olmsted Syndrome 2 |
|
Pruritus, Palmoplantar hyperkeratosis, Parakeratosis, Palmoplantar keratoderma, Perioral hyperker... |
OMIM:619208 |
| Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, Syndactyly |
OMIM:300484 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Microphthalmia, Agenesis of corpus callosum |
OMIM:614402 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short phalanx of finger, Short metacarpal, Angel-shaped phalanx, Flat acetabular roof, Cone-shape... |
OMIM:617102 |
| Cousin Syndrome |
|
Wrist flexion contracture, 2-3 toe syndactyly, Humeroradial synostosis, Camptodactyly, Dislocated... |
OMIM:260660 |
| Charlie M Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Abnormal metacarpal morphology, Split hand, Brachydactyly |
ORPHA:1406 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Abnormality of the wrist, Ra... |
ORPHA:2633 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Lissencephaly, Optic nerve hypoplasia, Microcephaly, Microphthalmia, Dysplastic corpus callosum, ... |
OMIM:614833 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Polydactyly, Relative macrocephaly, Clinodactyly of the 5th finger, Upper limb asymmetry |
ORPHA:231140 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Gastroesophageal reflux, Milia, Esophageal stricture, Corneal erosion, Ankyloglossia, Esophageal ... |
ORPHA:89842 |
