Craniorhiny |
|
Craniosynostosis, Wide nose, Anteverted nares, Turricephaly, Oxycephaly |
OMIM:123050 |
Craniosynostosis, Philadelphia Type |
|
Long palpebral fissure, Finger syndactyly, Craniosynostosis |
ORPHA:1527 |
Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, Distal symphalangism of hands, Cutaneous syndactyly, 3-4 finger syndactyly, S... |
OMIM:185900 |
Aurocephalosyndactyly |
|
Short columella, Craniosynostosis |
OMIM:109050 |
Oculotrichoanal Syndrome |
|
Cryptophthalmos, Upper eyelid coloboma, Anophthalmia, Anal stenosis, Nasolacrimal duct obstructio... |
ORPHA:2717 |
Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... |
OMIM:186000 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Cryptophthalmos, Ankyloblepharon, Microphthalmia |
OMIM:123570 |
Potocki-Shaffer syndrome |
|
Delayed cranial suture closure, Parietal foramina |
DECIPHER:34 |
Craniosynostosis With Anomalies Of The Cranial Base And Digits |
|
Absent thumb, Craniosynostosis, Absent middle phalanx of 2nd finger, Proximal placement of hallux... |
OMIM:218530 |
Craniosynostosis 7 |
|
Craniosynostosis |
OMIM:617439 |
Craniosynostosis 5, Susceptibility To |
|
Craniosynostosis |
OMIM:615529 |
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet |
|
Bulbous nose, Prominent metopic ridge, Bifid nose, Bifid nasal tip, Brachycephaly, Trigonocephaly |
OMIM:275595 |
Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
Trigonocephaly 2 |
|
Metopic synostosis, Trigonocephaly |
OMIM:614485 |
Polydactyly, Preaxial Ii |
|
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... |
OMIM:174500 |
Craniosynostosis, Adelaide Type |
|
Cone-shaped epiphyses of the toes, Carpal bone malsegmentation, Cone-shaped epiphyses of the phal... |
OMIM:600593 |
Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Frontal bossing, Short nose |
OMIM:218010 |
Summitt Syndrome |
|
Oxycephaly, Syndactyly, Craniosynostosis |
OMIM:272350 |
Acrocephalopolysyndactyly Type Iv |
|
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... |
OMIM:201020 |
Craniosynostosis 3 |
|
Brachydactyly, Single transverse palmar crease, Sagittal craniosynostosis, Hallux valgus, Left un... |
OMIM:615314 |
Bartsocas-Papas Syndrome |
|
Underdeveloped nasal alae, Corneal opacity, Renal hypoplasia/aplasia, Ankyloblepharon, Cleft pala... |
ORPHA:1234 |
Craniosynostosis 1 |
|
Oxycephaly, Craniosynostosis, Dolichocephaly, Prominent occiput, Frontal bossing, Sagittal cranio... |
OMIM:123100 |
Syndactyly Type 1 |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly |
ORPHA:93402 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Sparse eyebrow, Dolichocephaly, Depressed nasal bridge, Absent la... |
OMIM:167730 |
Syndactyly, Type Iii |
|
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
Adenylosuccinate Lyase Deficiency |
|
Prominent metopic ridge, Short nose, Flat occiput, Anteverted nares, Brachycephaly |
ORPHA:46 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cryptophthalmos, 2-3 toe syndactyly, Ectopia pupillae, Hypospadias, Microcornea, Coloboma, Epican... |
OMIM:615877 |
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly |
|
Partial duplication of eyebrows, 2-3 toe syndactyly, Periorbital wrinkles, Hypermobility of inter... |
OMIM:227210 |
Frontofacionasal Dysplasia |
|
Cleft palate, Depressed nasal ridge, Depressed nasal bridge, Microcornea, Short nose, Cataract, B... |
ORPHA:1791 |
Teebi Hypertelorism Syndrome 2 |
|
High palate, Wide anterior fontanel, Clinodactyly of the 5th finger, Thick eyebrow, Cleft palate,... |
OMIM:619736 |
Kleeblattschaedel |
|
Cloverleaf skull, Elbow ankylosis, Craniosynostosis |
OMIM:148800 |
Bartsocas-Papas Syndrome 1 |
|
Corneal ulceration, Ablepharon, Ankyloblepharon, Cleft palate, Absent thumb, Cicatricial lagophth... |
OMIM:263650 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Skin erosion, Localized skin lesion, Keloids, Skin vesicle, Milia, Erythematous papule, Atrophic ... |
ORPHA:79410 |
Symphalangism, Distal |
|
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal symphalangism of hands,... |
OMIM:185700 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... |
OMIM:185750 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Abnormal palm... |
ORPHA:3246 |
Hydrocephalus, Autosomal Dominant |
|
Sagittal craniosynostosis |
OMIM:123155 |
Acrofrontofacionasal Dysostosis |
|
High palate, Short distal phalanx of finger, Cleft palate, Everted lower lip vermilion, Aplasia/H... |
ORPHA:1784 |
Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly |
OMIM:234280 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Corneal opacity, Craniosynostosis, Unilateral renal agenesis, Micrognathia, Depressed nasal bridg... |
ORPHA:1064 |
Orbital Margin, Hypoplasia Of |
|
Congenital extraocular muscle anomaly, Lacrimal duct atresia, Lower eyelid coloboma |
OMIM:165600 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Ankyloblepharon, Microphthalmia |
ORPHA:85275 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Sparse eyebrow, Sparse eyelashes, Craniosynostosis, Micrognathia, Abnormality of the kidney, Depr... |
OMIM:616901 |
Ablepharon Macrostomia Syndrome |
|
Ablepharon, Cryptophthalmos, Corneal opacity, Absent eyebrow, Hypoplasia of penis, Excessive wrin... |
ORPHA:920 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Micropenis, Parietal foramina, Brachydactyly, Wormian bones, Dow... |
OMIM:601224 |
Burn-Mckeown Syndrome |
|
Cleft upper lip, 2-3 toe syndactyly, Short palpebral fissure, Cleft palate, Unilateral renal agen... |
OMIM:608572 |
Syndactyly, Type Iv |
|
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... |
OMIM:186200 |
Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis |
OMIM:263450 |
Darier Disease |
|
Macule, Acrokeratosis, Hypermelanotic macule, Subungual hyperkeratotic fragments, Palmoplantar ke... |
ORPHA:218 |
Crossed Polysyndactyly |
|
Hypoplasia of penis, Upslanted palpebral fissure, Postaxial hand polydactyly, Aplasia/Hypoplasia ... |
ORPHA:2935 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Brachycephaly, Choanal atresia, Midface retrusion, Craniosynostosis |
OMIM:612247 |
Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia, Median cleft palate, Respiratory infections in early life |
OMIM:248110 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Brachycephaly, Thickened calvaria, Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Syndactyly Type 5 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... |
ORPHA:93406 |
Wahab Syndrome |
|
Adducted thumb, Syndactyly, Ankylosis, Camptodactyly, Clinodactyly, Short foot, Short palm, Short... |
OMIM:615170 |
Lichen Planus Pemphigoides |
|
Skin vesicle, Blepharitis, Conjunctivitis, Hyperkeratosis |
ORPHA:254478 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... |
ORPHA:1891 |
Summitt Syndrome |
|
Plagiocephaly, Clinodactyly of the 5th finger, Craniosynostosis, Camptodactyly of finger, Promine... |
ORPHA:3210 |
Dowling-Degos Disease |
|
Hypermelanotic macule, Penile freckling, Abnormality of the hand, Epidermoid cyst, Hypopigmented ... |
ORPHA:79145 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
High palate, Clinodactyly of the 5th finger, Convex nasal ridge, Cutis laxa, Craniosynostosis, De... |
OMIM:619451 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Micropenis, Craniosynostosis, Micrognathia, Hypospadias, Thin vermilion border, Renal agenesis, D... |
ORPHA:171839 |
17Q21.31 Microduplication Syndrome |
|
High palate, Clinodactyly of the 5th finger, Thick eyebrow, Micrognathia, Epicanthus, Short nose,... |
ORPHA:217340 |
Greig Cephalopolysyndactyly Syndrome |
|
Craniosynostosis, Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand polydactyly, Fr... |
ORPHA:380 |
Greig Cephalopolysyndactyly Syndrome |
|
Craniosynostosis, 1-3 toe syndactyly, Downslanted palpebral fissures, Broad hallux, Scaphocephaly... |
OMIM:175700 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Nasolacrimal duct obstruction, Anal stenosis, Anteriorly placed anus, Microphthalmi... |
OMIM:248450 |
Frontonasal Dysplasia 1 |
|
Median cleft palate, Joint contracture of the hand, Broad nasal tip, Brachydactyly, Bifid nose, C... |
OMIM:136760 |
Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
Fraser Syndrome 1 |
|
Cleft palate, Depressed nasal bridge, Cleft ala nasi, Aplasia/Hypoplasia of the phalanges of the ... |
OMIM:219000 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal canal squamous cell carc... |
ORPHA:424019 |
Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Craniosynostosis, Broad hallux, Broad metatarsal, Hallux varus, Short metatar... |
OMIM:123150 |
Visceral Myopathy 2 |
|
Megacystis, Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Ne... |
OMIM:619350 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Pancreatic adenocarcinoma, St... |
ORPHA:2869 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
Syndactyly Type 3 |
|
Short toe, Finger syndactyly, Camptodactyly of finger |
ORPHA:93404 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Convex nasal ridge, Premature posterior fontanelle closure, Small anterior fontanelle, Sagittal c... |
OMIM:314320 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Cleft upper lip, Cleft palate, Palmoplantar cutis laxa, Downslanted palpebral fissures, Abnormal ... |
OMIM:268850 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Overlapping toe, Upslanted palpebral fissure, Retrognathia, Micrognathia, Unilateral... |
OMIM:618142 |
Acrofacial Dysostosis, Cincinnati Type |
|
Ablepharon, Flared lower limb metaphysis, Cleft palate, Retrognathia, Micrognathia, Femoral bowin... |
OMIM:616462 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Forearm undergrowth, Convex nasal ridge, Craniosynostosis, Dry skin, Renal dysplasia, Lower limb ... |
OMIM:218650 |
Brittle Cornea Syndrome 1 |
|
Abnormal cornea morphology, Dentinogenesis imperfecta, Palmoplantar cutis laxa, Congenital hip di... |
OMIM:229200 |
Delayed Membranous Cranial Ossification |
|
Depressed nasal ridge, Prominent occiput, Frontal bossing, Midface retrusion, Decreased skull oss... |
ORPHA:3034 |
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
Prominent nasal bridge, Craniosynostosis |
OMIM:608432 |
15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Downslanted palpebral fissures, Epicanthus, Joint hyperflexibilit... |
ORPHA:238446 |
Frontofacionasal Dysplasia |
|
Cleft upper lip, Ankyloblepharon, Absent inner eyelashes, S-shaped palpebral fissures, Bifid uvul... |
OMIM:229400 |
Cranioectodermal Dysplasia |
|
Short distal phalanx of finger, Taurodontia, Clinodactyly of the 5th finger, Finger syndactyly, E... |
ORPHA:1515 |
Fraser Syndrome 2 |
|
Cryptophthalmos, Cutaneous syndactyly, Renal hypoplasia |
OMIM:617666 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Dolichocephaly, Frontal bossing, Orbital craniosynostosis |
ORPHA:1538 |
Treacher Collins Syndrome 3 |
|
Cleft palate, Micrognathia, Coloboma, Downslanted palpebral fissures, Lower eyelid coloboma |
OMIM:248390 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Premature posterior fontanelle closure, Metopic suture patent to nasal root, Small anterior fonta... |
ORPHA:3369 |
Nager Syndrome |
|
Joint stiffness, Cleft palate, Aplasia/Hypoplasia of the eyebrow, Micrognathia, Unilateral renal ... |
ORPHA:245 |
2Q24 Microdeletion Syndrome |
|
Bullet-shaped distal phalanx of the hallux, Cleft palate, Camptodactyly of finger, Long fingers, ... |
ORPHA:1617 |
Fraser Syndrome 3 |
|
Short toe, Cryptophthalmos, Convex nasal ridge, Micrognathia, Cutaneous syndactyly, Hypoplasia of... |
OMIM:617667 |
Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Talipes equinovarus, Cutis laxa, Adducted thumb, Unilateral renal agenesis, Dela... |
OMIM:616603 |
Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia, Anophthalmia, Pulmonary hypoplasia, Microphthalmia, Cryptorchidism |
OMIM:615524 |
Matthew-Wood Syndrome |
|
Annular pancreas, Microphthalmia, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the panc... |
ORPHA:2470 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Short palpebral fissure, Retinal coloboma, Optic nerve hypoplasia, Retinal detach... |
OMIM:615113 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Palmoplantar erythema, Facial erythema, Erythematous plaque, Striae distensae, Erythematous papul... |
ORPHA:64745 |
Non-Distal Trisomy 10Q |
|
High palate, Convex nasal ridge, Everted lower lip vermilion, Micrognathia, Abnormality of the ur... |
ORPHA:1695 |
Dubowitz Syndrome |
|
High palate, Craniosynostosis, Depressed nasal bridge, Delayed eruption of teeth, Rectal prolapse... |
ORPHA:235 |
Abruzzo-Erickson Syndrome |
|
Short toe, Cleft palate, Hypospadias, Coronal hypospadias, Brachydactyly, Microcornea, Radioulnar... |
ORPHA:921 |
Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Orbital cyst, Microcornea, Coloboma |
OMIM:251505 |
Familial Benign Chronic Pemphigus |
|
Skin erosion, Erythema, Acantholysis, Hyperkeratosis, Skin vesicle |
ORPHA:2841 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Deviation of the 5th finger, Plagiocephaly, Postaxial polydactyly, Unilateral renal agenesis, Pro... |
OMIM:616362 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, Colorectal polyposis |
ORPHA:401911 |
Mental Retardation, X-Linked 91 |
|
High palate, Small hand, Short 5th finger, Epicanthus, Short nose, Cubitus valgus, Short foot, Cl... |
OMIM:300577 |
Sweeney-Cox Syndrome |
|
High palate, Anal atresia, Short clavicles, Wide anterior fontanel, Gastroesophageal reflux, Clef... |
OMIM:617746 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome |
|
Craniosynostosis |
ORPHA:2866 |
Ablepharon-Macrostomia Syndrome |
|
Ablepharon, Cryptophthalmos, Talipes equinovarus, Absent eyebrow, Clinodactyly of the 5th finger,... |
OMIM:200110 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Clinodactyly of the 5th finger, Craniosynostosis, Dolichocephaly, Micrognathia, Downslanted palpe... |
ORPHA:1516 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Depressed nasal bridge, Delayed eruption of teeth, Rectal prolapse, Horseshoe kidney, Talipes equ... |
OMIM:235510 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
Neu-Laxova Syndrome 2 |
|
High palate, Ablepharon, Cleft palate, Depressed nasal ridge, Micrognathia, Cataract, Rocker bott... |
OMIM:616038 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Thick eyebrow, Radioulnar synostosis, Epicanthus, Synophrys, Abno... |
ORPHA:3268 |
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss |
|
Dental malocclusion, Widely patent fontanelles and sutures, Everted lower lip vermilion, Hypospad... |
OMIM:603463 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Craniosynostosis, Arachnodactyly, Oligodactyly, Humeroradial synostosis, Brachycephaly |
OMIM:614416 |
Brachydactyly Type A7 |
|
Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... |
ORPHA:93397 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Cone-shaped epiphysis, Tapered finger, Downslanted palpebral fissures, Broad hallux, Midface retr... |
OMIM:618659 |
Ectrodactyly-Polydactyly Syndrome |
|
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... |
ORPHA:1892 |
Hunter-Mcalpine Craniosynostosis Syndrome |
|
Craniosynostosis |
OMIM:601379 |
Microtriplication 11Q24.1 |
|
Clinodactyly of the 5th finger, Thick eyebrow, Joint dislocation, Cleft palate, Upslanted palpebr... |
ORPHA:289522 |
Momo Syndrome |
|
High palate, Dental malocclusion, Taurodontia, Short sternum, Retinal coloboma, Delayed eruption ... |
OMIM:157980 |
Liebenberg Syndrome |
|
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... |
OMIM:186550 |
Craniofrontonasal Dysplasia |
|
High palate, Midline defect of the nose, Plagiocephaly, Clinodactyly of the 5th finger, Finger sy... |
ORPHA:1520 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Cleft palate, Micrognathia, Epicanthus, Short nose, Anteverted nares, Thin upper lip vermilion |
ORPHA:2015 |
Split-Hand/Foot Malformation 4 |
|
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... |
OMIM:605289 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
Gorlin-Chaudhry-Moss Syndrome |
|
Short distal phalanx of finger, Coronal craniosynostosis, Upper eyelid coloboma, Aplasia/Hypoplas... |
ORPHA:2095 |
Aplasia Cutis Congenita |
|
Calvarial skull defect, Congenital localized absence of skin, Abnormality of bone mineral density... |
ORPHA:1114 |
Au-Kline Syndrome |
|
High palate, Overlapping toe, Cleft palate, Craniosynostosis, Dolichocephaly, Deep palmar crease,... |
OMIM:616580 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis, Aniridia, Telecanthus |
OMIM:206750 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Micromelia, Midface retrusi... |
OMIM:250215 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 4 |
|
2-3 toe syndactyly, Joint hypermobility, Micropenis, Unilateral renal agenesis, Micrognathia, Cam... |
OMIM:619951 |
Muenke Syndrome |
|
High palate, Dental malocclusion, Plagiocephaly, Cone-shaped epiphyses of the phalanges of the ha... |
OMIM:602849 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Slender finger, Cleft palate, Depressed nasal bridge, Short nose, Cataract, Hemiatro... |
ORPHA:163649 |
Autosomal Recessive Omodysplasia |
|
Abnormality of femur morphology, Craniosynostosis, Hypoplastic distal humeri, Micrognathia, Depre... |
ORPHA:93329 |
Trigonocephaly 1 |
|
Craniosynostosis, Long penis, Preauricular skin tag, Synophrys, Trigonocephaly |
OMIM:190440 |
Hypophosphatasia, Childhood |
|
Bowing of the legs, Craniosynostosis, Dolichocephaly, Phosphoethanolaminuria, Frontal bossing, Sk... |
OMIM:241510 |
Polydactyly, Postaxial, Type A1 |
|
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb |
OMIM:174200 |
Brachydactyly-Syndactyly Syndrome |
|
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... |
OMIM:610713 |
Cryptorchidism, Unilateral Or Bilateral |
|
Renal agenesis, Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... |
ORPHA:157801 |
Brachydactyly, Type A2 |
|
Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap... |
OMIM:112600 |
Chromosome 5P13 Duplication Syndrome |
|
High palate, Bulbous nose, Short palpebral fissure, Upslanted palpebral fissure, Craniosynostosis... |
OMIM:613174 |
Craniosynostosis 2 |
|
Craniosynostosis, Brachyturricephaly, Frontal bossing, Bicoronal synostosis, Unicoronal synostosi... |
OMIM:604757 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Deviation of finger, Epicanthus, Short nose, Frontal bossing, Hydronep... |
ORPHA:1450 |
Rhiny |
|
Anteverted nares, Short nose |
OMIM:180360 |
Anophthalmia Plus Syndrome |
|
Cleft palate, Abnormal nasal morphology, Deviation of finger, Bilateral cleft lip and palate, Non... |
ORPHA:1104 |
Keratoconus Posticus Circumscriptus |
|
Cleft upper lip, Clinodactyly of the 5th finger, Cleft palate, Abnormal vertebral segmentation an... |
OMIM:244600 |
Carpenter Syndrome |
|
Talipes equinovarus, Craniosynostosis, Brachydactyly, Polydactyly, Syndactyly, Cloverleaf skull, ... |
ORPHA:65759 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis, Aganglionic megacolon |
OMIM:235740 |
Lowry-Maclean Syndrome |
|
Cleft palate, Craniosynostosis, Osteopenia, Megalocornea, Pyloric stenosis, Downslanted palpebral... |
ORPHA:2409 |
Fraser Syndrome |
|
High palate, Depressed nasal bridge, Cleft ala nasi, Ectopic anus, Anal atresia, Cleft upper lip,... |
ORPHA:2052 |
Arthrogryposis, Distal, Type 5 |
|
High palate, Decreased palmar creases, Bilateral talipes equinovarus, Arachnodactyly, Limited wri... |
OMIM:108145 |
Barber-Say Syndrome |
|
Ablepharon, Ectropion, Bulbous nose, Aplasia/Hypoplasia of the eyebrow, Redundant skin, Sparse or... |
ORPHA:1231 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Coronal craniosynostosis, Short nose, Genu valgum, Patellar dislocation, Wide nasal bridge |
OMIM:614078 |
Erythema Elevatum Diutinum |
|
Skin vesicle, Skin nodule |
ORPHA:90000 |
1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Polydactyly, Rod-c... |
OMIM:615990 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Temporomandibular joint ankylosis, High, narrow palate, Slender finger, Micropenis, Dolichocephal... |
ORPHA:2872 |
Lowry-Maclean Syndrome |
|
Convex nasal ridge, Craniosynostosis |
OMIM:600252 |
Acrocephalopolydactyly |
|
Genu recurvatum, Depressed nasal ridge, Brachydactyly, Abnormal renal morphology, Limb undergrowt... |
ORPHA:221054 |
Treacher Collins Syndrome 4 |
|
Cleft palate, Micrognathia, Downslanted palpebral fissures, Lower eyelid coloboma, Choanal stenosis |
OMIM:618939 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Unilambdoid synostosis, Ulnar deviation of the wrist, Short nose, Anteverted nares... |
OMIM:618577 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Cleft palate, Broad nasal tip, Tapered finger, Short nose, Tented upper lip vermilion, Anteriorly... |
OMIM:239300 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft upper lip, Cleft palate, Hematuria, Coloboma, Cataract, Ptosis |
OMIM:120433 |
Oculoauriculofrontonasal Syndrome |
|
Cleft palate, Micrognathia, Upper eyelid coloboma, Limbal dermoid, Bifid nasal tip, Wide nose, Un... |
ORPHA:398156 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Thick upper lip vermilion, Anal atresia, Dental malocclusion, Overlapping toe, Velopharyngeal ins... |
ORPHA:363444 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Talipes equinovarus, Short palpebral fissure, Hand oligodactyly, Camptodactyly of ... |
OMIM:206920 |
Syndactyly, Type V |
|
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... |
OMIM:186300 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Papule, Aplasia/Hypoplasia of the skin, Skin vesicle, Dermal atrophy, Ptosis |
ORPHA:257 |
Pfeiffer Syndrome |
|
High palate, Elbow ankylosis, Humeroradial synostosis, Coronal craniosynostosis, Depressed nasal ... |
OMIM:101600 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Follicular hyperkeratosis, Sparse eyebrow, Sparse eyelashes |
OMIM:613102 |
Crouzon Syndrome |
|
Narrow palate, Convex nasal ridge, Midface retrusion, Frontal bossing, Iris coloboma, Multiple su... |
ORPHA:207 |
Neurofaciodigitorenal Syndrome |
|
Hypoplasia of the premaxilla, Plagiocephaly, Unilateral renal agenesis, Downslanted palpebral fis... |
ORPHA:2673 |
14Q11.2 Microdeletion Syndrome |
|
High palate, Toe clinodactyly, Everted lower lip vermilion, Micrognathia, Depressed nasal bridge,... |
ORPHA:261120 |
Momo Syndrome |
|
High palate, Dental malocclusion, Thick upper lip vermilion, Taurodontia, Short sternum, Abnormal... |
ORPHA:2563 |
Chopra-Amiel-Gordon Syndrome |
|
Flared nostrils, Brachycephaly, Cleft palate, Upslanted palpebral fissure, Unilateral renal agene... |
OMIM:619504 |
Terminal Osseous Dysplasia |
|
Mesomelic leg shortening, Short toe, Multiple joint contractures, Toe clinodactyly, Camptodactyly... |
OMIM:300244 |
Inverted Duplicated Chromosome 15 Syndrome |
|
High palate, Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Unilateral ... |
ORPHA:3306 |
Helsmoortel-Van Der Aa Syndrome |
|
Everted lower lip vermilion, Small hand, Broad nasal tip, Advanced eruption of teeth, Downslanted... |
OMIM:615873 |
Craniosynostosis, Herrmann-Opitz Type |
|
Convex nasal ridge, Cleft palate, Craniosynostosis, Micrognathia, Abnormality of the upper urinar... |
ORPHA:2145 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sparse eyebrow, Sparse eyelashes, Craniosynostosis, Lack of skin elasticity, C... |
ORPHA:178303 |
Pemphigoid Gestationis |
|
Skin vesicle |
ORPHA:63275 |
Acrofacial Dysostosis 1, Nager Type |
|
Cleft palate, Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Downslanted palpebra... |
OMIM:154400 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Jacobsen Syndrome |
|
Clinodactyly of the 5th finger, Flexion contracture, Micrognathia, Hypospadias, Depressed nasal b... |
OMIM:147791 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
High palate, Talipes equinovarus, Cleft palate, Micropenis, Dolichocephaly, Recurrent upper respi... |
OMIM:300209 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Depressed nasal bridge, Microcornea, Short nose, Mandibular prognathia, Midface retr... |
ORPHA:1327 |
3Q29 Microduplication Syndrome |
|
High palate, Ectopic anus, Cleft palate, Craniosynostosis, Biparietal narrowing, Camptodactyly of... |
ORPHA:251038 |
Neurofaciodigitorenal Syndrome |
|
Unilateral renal agenesis, Bifid nose, Frontal bossing, Triphalangeal thumb, Midline defect of th... |
OMIM:256690 |
Carpenter Syndrome 1 |
|
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Depressed nasal bridge, Micr... |
OMIM:201000 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Cleft upper lip, High, narrow palate, Cleft palate, Broad proximal phalanges of the hand, Depress... |
OMIM:607597 |
Axial Mesodermal Dysplasia Spectrum |
|
Anal atresia, Renal hypoplasia/aplasia, Gastroesophageal reflux, Congenital diaphragmatic hernia,... |
ORPHA:1834 |
Gomez-Lopez-Hernandez Syndrome |
|
High palate, Wide anterior fontanel, Craniosynostosis, Thin vermilion border, Opacification of th... |
OMIM:601853 |
Antley-Bixler Syndrome |
|
Joint stiffness, Recurrent fractures, Elbow ankylosis, Cleft palate, Craniosynostosis, Arachnodac... |
ORPHA:83 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Frontal bossing, Osteoporosis, Wormian bones, Joint hyperflexibility |
ORPHA:2787 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cone-shaped epiphyses of the phalanges of the hand, Blue irides, Calvarial hyperostosis, Broad na... |
OMIM:101800 |
Mandibulofacial Dysostosis With Mental Retardation |
|
High palate, Micrognathia, Downslanted palpebral fissures, Lower eyelid coloboma |
OMIM:248400 |
Pierpont Syndrome |
|
Unilateral narrow palpebral fissure, Short toe, Prominent fingertip pads, Micropenis, Everted low... |
OMIM:602342 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly, Polydactyly, Atypical scarring o... |
ORPHA:294975 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Overlapping toe, Convex nasal ridge, Micropenis, Micrognathia, Hypoplasia of the tooth germ, Bifi... |
ORPHA:293967 |
Postaxial Acrofacial Dysostosis |
|
Cleft palate, Hypoplasia of the radius, Micrognathia, Camptodactyly of finger, Downslanted palpeb... |
ORPHA:246 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones |
ORPHA:2773 |
Branchio-Oculo-Facial Syndrome |
|
High palate, Upslanted palpebral fissure, Everted lower lip vermilion, Renal agenesis, Dolichocep... |
ORPHA:1297 |
Craniosynostosis 4 |
|
Pansynostosis, Coronal craniosynostosis, Depressed nasal bridge, Sagittal craniosynostosis, Metop... |
OMIM:600775 |
Beaulieu-Boycott-Innes Syndrome |
|
Dental malocclusion, Velopharyngeal insufficiency, Short palpebral fissure, Low hanging columella... |
OMIM:613680 |
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis |
|
Sagittal craniosynostosis |
OMIM:218450 |
Macrocephaly-Developmental Delay Syndrome |
|
High palate, Clinodactyly of the 5th finger, Microretrognathia, Craniosynostosis, Palpebral edema... |
ORPHA:397612 |
Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... |
OMIM:180550 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Split-Hand/Foot Malformation 6 |
|
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly |
OMIM:225300 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Recurrent fractures, Abnormal metaphysis morphology, Craniosynostosis, Cutaneous... |
ORPHA:1306 |
Toriello-Lacassie-Droste Syndrome |
|
Short palpebral fissure, Abnormal penis morphology, Hypospadias, Abnormality of the ureter, Limba... |
ORPHA:3339 |
Hartsfield Syndrome |
|
Cleft palate, Craniosynostosis, Depressed nasal bridge, Downslanted palpebral fissures, Telecanth... |
ORPHA:2117 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Congenital diaphragmatic hernia, Abnormality of the diaphragm, Intestinal mal... |
OMIM:601163 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Skin vesicle, Parakeratosis, Erythema migrans |
ORPHA:158681 |
Multiple Synostoses Syndrome 3 |
|
Limited interphalangeal movement, Dolichocephaly, Cutaneous syndactyly of toes, Metatarsal synost... |
OMIM:612961 |
Chromosome 16P13.3 Duplication Syndrome |
|
Short toe, Bulbous nose, Upslanted palpebral fissure, Short phalanx of finger, Tapered finger, Lo... |
OMIM:613458 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
Jacobsen Syndrome |
|
Microcornea, Pyloric stenosis, Downslanted palpebral fissures, Short nose, Cataract, Ectopic anus... |
ORPHA:2308 |
Oculocerebrocutaneous Syndrome |
|
Orbital cyst, Congenital hip dislocation, Anophthalmia, Microphthalmia, Focal dermal aplasia/hypo... |
OMIM:164180 |
Postaxial Acrofacial Dysostosis |
|
Cleft upper lip, Ectropion, Cleft palate, Micropenis, Hypoplasia of the radius, Micrognathia, Abn... |
OMIM:263750 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... |
OMIM:309300 |
Coloboma Of Macula With Type B Brachydactyly |
|
Renal agenesis, Type B brachydactyly, Coloboma, Bifid distal phalanx of the thumb, Broad distal p... |
OMIM:120400 |
Distal Monosomy 10Q |
|
High palate, Cleft palate, Craniosynostosis, Prominent fingertip pads, Tapered finger, Downslante... |
ORPHA:96148 |
Serkal Syndrome |
|
Sex reversal, Congenital diaphragmatic hernia, Abnormal penis morphology, Hypospadias, Malrotatio... |
ORPHA:139466 |
Curry-Jones Syndrome |
|
Craniosynostosis, Intestinal malrotation, Syndactyly, Duplication of thumb phalanx, Cutaneous syn... |
OMIM:601707 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Corneal opacity, Clinodactyly of the 5th finger, Sparse eyebrow, Dolichocephaly, Depressed nasal ... |
ORPHA:2399 |
Dermatitis, Atopic |
|
Pallor, Dry skin, Facial erythema, Allergic rhinitis, Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Proboscis Lateralis |
|
High palate, Abnormal morphology of bony orbit of skull, Abnormal location of the eyebrow, Microc... |
ORPHA:141099 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Congenital diaphragmatic hernia, Cleft palate, Multiple renal cysts, Ab... |
ORPHA:1166 |
Frontonasal Dysplasia 3 |
|
Absent eyebrow, Cleft palate, Sparse eyelashes, Upper eyelid coloboma, Microphthalmia |
OMIM:613456 |
Emanuel Syndrome |
|
High palate, Multiple joint contractures, Cleft palate, Congenital hip dislocation, Abnormality o... |
ORPHA:96170 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Thin calvarium, Delayed cranial suture closure, Frontal bossing, Short nose, Midface retrusion |
ORPHA:1129 |
Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Corneal opacity, Calvarial skull defect, Aplasia/Hypoplasia of th... |
ORPHA:1647 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Wide anterior fontanel, Ankyloblepharon, 2-5 finger cutaneous syndactyly, Small ... |
OMIM:619339 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
High palate, Brachycephaly, Craniosynostosis, Depressed nasal bridge, Downslanted palpebral fissu... |
ORPHA:314575 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Overlapping toe, Craniosynostosis, Femoral bowing, Depressed nasal bridge, Osteopenia, Short femo... |
OMIM:616723 |
Mandibulofacial Dysostosis With Alopecia |
|
Cleft palate, Sparse eyelashes, Glossoptosis, Micrognathia, Hydroureter, Everted lower lip vermil... |
OMIM:616367 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Chorioretinal coloboma, Microphthalmia |
OMIM:616428 |
Congenital Diaphragmatic Hernia |
|
Intestinal malrotation, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Congenital dia... |
ORPHA:2140 |
Dermatitis Herpetiformis |
|
Skin vesicle, Macule, Recurrent fractures, Erythema |
ORPHA:1656 |
Cranioectodermal Dysplasia 4 |
|
Short distal phalanx of finger, Taurodontia, Cutis laxa, Thin vermilion border, Cutaneous finger ... |
OMIM:614378 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Osteoarthritis, Short nose, Midface retrusion, Delayed epiphyseal ossification |
OMIM:618618 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Abnormality of finger, Large iliac wing, Delayed cranial suture closure, Cone-shaped epiphysis, A... |
ORPHA:2511 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Anal atresia, Midshaft hypospadias, Renal hypoplasia/aplasia, Micrognathia, Camptoda... |
ORPHA:2863 |
Nablus Mask-Like Facial Syndrome |
|
High palate, Short palpebral fissure, Sparse eyebrow, Sparse eyelashes, Retrognathia, Craniosynos... |
OMIM:608156 |
Fetal Encasement Syndrome |
|
Horseshoe kidney, Congenital diaphragmatic hernia, Omphalocele, Increased urinary 8-oxo-7,8-dihyd... |
OMIM:613630 |
Neu-Laxova Syndrome 1 |
|
Cleft upper lip, Ablepharon, Joint contracture of the hand, Cleft palate, Renal agenesis, Microgn... |
OMIM:256520 |
Williams-Beuren Region Duplication Syndrome |
|
High palate, Unilateral renal agenesis, Micrognathia, Broad nasal tip, Horizontal eyebrow, Long e... |
OMIM:609757 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Pemphigus Foliaceus |
|
Skin erosion, Erythema, Serpiginous cutaneous lesion, Annular cutaneous lesion, Acantholysis, Ery... |
ORPHA:79481 |
Pyoderma Gangrenosum |
|
Rheumatoid arthritis, Papule, Atrophic scars, Skin ulcer, Skin vesicle |
ORPHA:48104 |
Muenke Syndrome |
|
Carpal synostosis, Plagiocephaly, Hypermelanotic macule, Coronal craniosynostosis, Cone-shaped ep... |
ORPHA:53271 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
High palate, Retrognathia, Depressed nasal bridge, Epicanthus, Short nose, Anteverted nares |
OMIM:614069 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Epispadias, Finger syndactyly, Depressed nasal ridge, Abnormal penis morphology, Delayed cranial ... |
ORPHA:2211 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Chorioretinal coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Split-Hand/Foot Malformation 1 |
|
Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... |
OMIM:183600 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Santos Syndrome |
|
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... |
OMIM:613005 |
Coffin-Lowry Syndrome |
|
High palate, Drumstick terminal phalanges, Tapered finger, Downslanted palpebral fissures, Single... |
OMIM:303600 |
Bardet-Biedl Syndrome 5 |
|
Rod-cone dystrophy, Syndactyly, Brachydactyly, Polydactyly, Macular dystrophy |
OMIM:615983 |
Frontoocular Syndrome |
|
High palate, Trigonocephaly, Short palpebral fissure, Upslanted palpebral fissure, Coronal cranio... |
OMIM:605321 |
Curry-Jones Syndrome |
|
Abnormality of thumb phalanx, Craniosynostosis, Preaxial hand polydactyly, Aplasia/Hypoplasia of ... |
ORPHA:1553 |
Hao-Fountain Syndrome |
|
Delayed cranial suture closure, Trigonocephaly, Large fontanelles |
OMIM:616863 |
Apert Syndrome |
|
Cleft palate, Craniosynostosis, Depressed nasal bridge, Shallow orbits, Brachyturricephaly, Cutan... |
OMIM:101200 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Brachycephaly, Bulbous nose, Upslanted palpebral fissure, Postaxial polydactyly, Micrognathia, Hy... |
OMIM:615761 |
Mental Retardation, X-Linked, With Craniofacial Dysmorphism |
|
Frontal bossing, Plagiocephaly, Brachycephaly |
OMIM:300064 |
Takenouchi-Kosaki Syndrome |
|
Bulbous nose, Sparse eyebrow, Tapered finger, Downslanted palpebral fissures, Midface retrusion, ... |
OMIM:616737 |
Renal Hypoplasia |
|
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... |
ORPHA:93101 |
Craniofacial-Deafness-Hand Syndrome |
|
Lacrimal duct atresia, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Depressed na... |
ORPHA:1529 |
Verheij Syndrome |
|
Renal agenesis, Short 5th finger, Coloboma, Renal cyst, Thin upper lip vermilion, Renal hypoplasi... |
OMIM:615583 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
High palate, Bulbous nose, Broad nasal tip, Depressed nasal bridge, Tapered finger, Anal atresia,... |
OMIM:613792 |
Acro-Renal-Ocular Syndrome |
|
Radial club hand, Microcornea, Optic disc coloboma, Hypoplasia of the ulna, Cataract, Horseshoe k... |
ORPHA:959 |
Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia |
ORPHA:972 |
9q subtelomeric deletion syndrome |
|
Anteverted nares, Short nose, Midface retrusion |
DECIPHER:52 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Plagiocephaly, Gastroesophageal reflux, Microretrognathia, Cleft palate, Craniosynostosis, Intest... |
ORPHA:457193 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Craniosynostosis, Downslanted palpebral fissures, Rocker bottom foot, Midface retrusion, Talipes ... |
OMIM:301056 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Intestinal malrotation, Brachydactyly, Short thumb, Limited elbow extensi... |
ORPHA:401935 |
Adams-Oliver Syndrome 3 |
|
Short distal phalanx of finger, 2-3 toe syndactyly, Short metatarsal, Short palpebral fissure, Ap... |
OMIM:614814 |
Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Nail-Patella Syndrome |
|
Cleft palate, Microcornea, Hematuria, Glenoid fossa hypoplasia, Hypoplastic radial head, Biceps a... |
OMIM:161200 |
Cdags Syndrome |
|
Anal atresia, Brachycephaly, Ectropion, Short clavicles, Sparse eyebrow, Cleft palate, Sparse eye... |
OMIM:603116 |
Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... |
OMIM:174700 |
Brachydactyly Type B |
|
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... |
ORPHA:93383 |
Distal Trisomy 5Q |
|
Absent thumb, Craniosynostosis, Thin vermilion border, Micrognathia, Hypospadias, Hypoplasia of t... |
ORPHA:96097 |
Autosomal Recessive Primary Microcephaly |
|
Upslanted palpebral fissure, Unilateral renal agenesis, Abnormal cortical bone morphology, Thin u... |
ORPHA:2512 |
Chromosome 2Q31.1 Duplication Syndrome |
|
Talipes equinovarus, Absent thumb, 3-4 finger cutaneous syndactyly, Triphalangeal thumb, Short thumb |
OMIM:613681 |
Mesomelic Dysplasia, Nievergelt Type |
|
Micromelia, Radioulnar synostosis, Abnormality of fibula morphology, Genu valgum, Elbow dislocati... |
ORPHA:2633 |
Distal Trisomy 18Q |
|
High palate, Clinodactyly of the 5th finger, Hypoplasia of penis, Dolichocephaly, Micrognathia, C... |
ORPHA:1716 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Long nose, Abnormality of the upper urinary tract, Depressed nasal tip, Microcornea, Optic disc c... |
ORPHA:2995 |
8p23.1 deletion syndrome |
|
Cryptorchidism, Congenital diaphragmatic hernia |
DECIPHER:39 |
Schisis Association |
|
Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Renal agenesis, Tracheoesophageal fi... |
ORPHA:63862 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
High palate, Bulbous nose, Micrognathia, Brachydactyly, Camptodactyly, Downslanted palpebral fiss... |
OMIM:613604 |
Osteogenesis Imperfecta, Type Xii |
|
Depressed nasal bridge, Brachyturricephaly, Wormian bones, Osteoporosis, Generalized osteoporosis... |
OMIM:613849 |
Chromosome 16Q22 Deletion Syndrome |
|
High palate, Wide anterior fontanel, Short palpebral fissure, Upslanted palpebral fissure, Microg... |
OMIM:614541 |
2Q31.1 Microdeletion Syndrome |
|
Bulbous nose, Cleft palate, Optic disc coloboma, Tapered finger, Downslanted palpebral fissures, ... |
ORPHA:251014 |
Lethal Osteosclerotic Bone Dysplasia |
|
Depressed nasal ridge, Delayed cranial suture closure, Short nose, Large fontanelles, Anteverted ... |
ORPHA:1832 |
Warburg-Cinotti Syndrome |
|
High palate, Joint swelling, Flexion contracture of finger, Symblepharon, Corneal neovascularizat... |
OMIM:618175 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Acrocraniofacial Dysostosis |
|
Cleft palate, Craniosynostosis, Micrognathia, Short 1st metacarpal, Downslanted palpebral fissure... |
OMIM:201050 |
Van Den Ende-Gupta Syndrome |
|
High palate, Cleft palate, Craniosynostosis, Femoral bowing, Depressed nasal bridge, Tapered fing... |
OMIM:600920 |
Brachydactyly Type B2 |
|
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... |
ORPHA:140908 |
Rubinstein-Taybi Syndrome 2 |
|
High palate, Dental malocclusion, Narrow palate, Convex nasal ridge, Retrognathia, Intestinal mal... |
OMIM:613684 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
Diabetes Insipidus, Neurohypophyseal |
|
Osteopenia, Wide nose, Short nose |
OMIM:125700 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Keratitis, Absent eyebrow, Cleft palate, Unilateral renal agenesis, Multicystic kidney dysplasia,... |
OMIM:308205 |
Chromosome 10Q26 Deletion Syndrome |
|
Flared nostrils, Convex nasal ridge, Craniosynostosis, Upslanted palpebral fissure, Micrognathia,... |
OMIM:609625 |
Osteoglophonic Dysplasia |
|
High palate, Broad phalanx, Craniosynostosis, Depressed nasal bridge, Shallow orbits, Downslanted... |
OMIM:166250 |
Ritscher-Schinzel Syndrome 1 |
|
Anal atresia, Cleft palate, Micrognathia, Hypospadias, Depressed nasal bridge, Syndactyly, Promin... |
OMIM:220210 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Bicoronal synostosis, Delayed closure of the anterior fontanelle, Brachycephaly, La... |
OMIM:618736 |
Cat-Eye Syndrome |
|
Anal atresia, Renal hypoplasia/aplasia, Downslanted palpebral fissures, Abnormal localization of ... |
ORPHA:195 |
Branchioskeletogenital Syndrome |
|
Craniosynostosis, Broad nasal tip, Depressed nasal bridge, Bladder exstrophy, Carious teeth, Down... |
ORPHA:1299 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity, Clinodactyly of the 5th finger, Reduced bone mineral density, Thin vermilion bor... |
ORPHA:2370 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal atresia, Plagiocephaly, Cleft palate, Upslanted palpebral fissure, Anterior plagiocephaly, S... |
OMIM:614749 |
Hamamy Syndrome |
|
High palate, Sparse eyebrow, Craniosynostosis, Osteopenia, Down-sloping shoulders, Tapered finger... |
OMIM:611174 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the radius, Micromelia, Radioulnar synostosis, Downslanted palpebral fissures, Hypo... |
ORPHA:3258 |
Prognathism, Mandibular |
|
Craniosynostosis |
OMIM:176700 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Bladder diverticulum, Gastroesophageal reflux, Cutis laxa, Tracheomalacia, Retrognathia, Microgna... |
OMIM:613177 |
17P13.3 Microduplication Syndrome |
|
High palate, Clinodactyly of the 5th finger, Hypoplasia of penis, Congenital hip dislocation, Dow... |
ORPHA:217385 |
Chung-Jansen Syndrome |
|
High palate, Thick eyebrow, Upslanted palpebral fissure, Thin vermilion border, Micrognathia, Tap... |
OMIM:617991 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
2-3 toe syndactyly, Sparse eyebrow, Long palpebral fissure, Dry skin, 3-4 finger syndactyly, Apla... |
OMIM:600906 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Joint contracture of the hand, Sparse eyebrow, Sparse eyelashes, Syndactyly, Camptodactyly, Split... |
OMIM:225280 |
Gapo Syndrome |
|
Nephrolithiasis, Sparse eyebrow, Sparse eyelashes, Everted lower lip vermilion, Micrognathia, Abn... |
ORPHA:2067 |
Treacher-Collins Syndrome |
|
High palate, Cleft palate, Tracheoesophageal fistula, Downslanted palpebral fissures, Hypoplasia ... |
ORPHA:861 |
Bardet-Biedl Syndrome 11 |
|
Retinopathy, Polydactyly |
OMIM:615988 |
Wells Syndrome |
|
Skin vesicle |
ORPHA:901 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Short distal phalanx of finger, Coxa valga, Coronal craniosynostosis, Lambdoidal craniosynostosis |
OMIM:601370 |
Cree Mental Retardation Syndrome |
|
Micrognathia, Hypospadias, Coloboma, Downslanted palpebral fissures, Rocker bottom foot, Cutaneou... |
OMIM:606851 |
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig |
|
Multiple joint contractures, Decreased palmar creases, Slender finger, Cleft palate, Craniosynost... |
OMIM:218649 |
Denys-Drash Syndrome |
|
Ovarian gonadoblastoma, Ambiguous genitalia, female, Nephrotic syndrome, Ambiguous genitalia, mal... |
OMIM:194080 |
Baraitser-Winter Syndrome 1 |
|
Cleft upper lip, Trigonocephaly, Micropenis, Retrognathia, Long palpebral fissure, Midface retrus... |
OMIM:243310 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
High palate, Craniosynostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Short nose, Hors... |
OMIM:609945 |
Treacher Collins Syndrome 2 |
|
Cleft palate, Micrognathia, Coloboma, Downslanted palpebral fissures, Choanal atresia, Choanal st... |
OMIM:613717 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Depressed nasal bridge, Short nose, Craniosynostosis |
OMIM:614732 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormal morphology of female internal genitalia, Pulmonary hypoplasia, Congenital diaphragmatic ... |
ORPHA:2141 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia, Anteriorly placed anus |
OMIM:617661 |
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Craniosynostosis |
OMIM:225755 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
High palate, Upslanted palpebral fissure, Retrognathia, Microcornea, Epicanthus, Cataract, Brachy... |
ORPHA:2528 |
Non-Syndromic Posterior Hypospadias |
|
Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Micropenis, Urethral diverticulum, V... |
ORPHA:95706 |
Ganglioneuroma |
|
Multiple intestinal neurofibromatosis, Abnormal rectum morphology, Colorectal polyposis, Abnormal... |
ORPHA:251992 |
Oligomeganephronia |
|
Congenital diaphragmatic hernia, Decreased glomerular filtration rate, Pulmonary venous occlusion... |
ORPHA:2260 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Plagiocephaly, Trigonocephaly, Craniosynostosis, Brachydactyly, Hydronephrosis, Arthrogryposis mu... |
OMIM:618265 |
Split-Hand/Foot Malformation 2 |
|
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly |
OMIM:313350 |
Baraitser-Winter Syndrome 2 |
|
Trigonocephaly, Retrognathia, Long palpebral fissure, Coloboma, Telecanthus, Thin upper lip vermi... |
OMIM:614583 |
Acromicric Dysplasia |
|
Abnormal eyebrow morphology, Abnormality of femur morphology, Fifth metacarpal with ulnar notch, ... |
ORPHA:969 |
Meckel Syndrome, Type 8 |
|
Talipes equinovarus, Anophthalmia, Polydactyly, Postaxial hand polydactyly, Microphthalmia |
OMIM:613885 |
Acrocraniofacial Dysostosis |
|
Cleft palate, Craniosynostosis, Short 1st metacarpal, Advanced eruption of teeth, Tapered finger,... |
ORPHA:949 |
Edinburgh Malformation Syndrome |
|
Joint stiffness, Slender finger, Thin vermilion border, Micrognathia, Long fingers, Ulnar deviati... |
ORPHA:1895 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Depressed nasal bridge, Highly arched eyebrow, Short nose, Thin upper lip vermilion, Juvenile cat... |
ORPHA:438178 |
Alagille Syndrome |
|
Short distal phalanx of finger, Nephrotic syndrome, Abnormal pupil morphology, Renal hypoplasia/a... |
ORPHA:52 |
Trisomy 12P |
|
Anal atresia, Clinodactyly of the 5th finger, Thick eyebrow, Cleft palate, Everted lower lip verm... |
ORPHA:1699 |
Cranioectodermal Dysplasia 3 |
|
Cutis laxa, Nephronophthisis, Everted lower lip vermilion, Micrognathia, Dolichocephaly, Postaxia... |
OMIM:614099 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cleft palate, Sparse eyebrow, Sparse eyelashes, Camptodactyly of finger, Finger clinodactyly, Bra... |
ORPHA:306542 |
Craniosynostosis With Fibular Aplasia |
|
Craniosynostosis |
OMIM:218550 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
High palate, Cleft palate, Craniosynostosis, Short nose, Long eyelashes, Hypoplasia of the maxill... |
OMIM:213980 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Short distal phalanx of finger, Renal agenesis, Camptodactyly of finger, Type B brachydactyly, Br... |
ORPHA:1471 |
Craniodigital-Intellectual Disability Syndrome |
|
Thick eyebrow, Micrognathia, Narrow nasal bridge, Short nose, Long eyelashes, Brachycephaly, Fing... |
ORPHA:1514 |
Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
Bladder Exstrophy And Epispadias Complex |
|
Inguinal hernia, Unilateral renal agenesis, Hydroureter, Bladder exstrophy, Horseshoe kidney, Ant... |
OMIM:600057 |
Mental Retardation Syndrome, Belgian Type |
|
Mandibular prognathia, Cleft ala nasi, Wide nose, Coloboma |
OMIM:249599 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis |
ORPHA:88643 |
Microphthalmia, Isolated 3 |
|
Anophthalmia, Ankyloblepharon, Microphthalmia |
OMIM:611038 |
Gallbladder Disease 1 |
|
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Hepatic ... |
OMIM:600803 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Anterior polar cataract, Broad nasal tip, Hypoplasia of the capital femoral epiphysis, Genu valgu... |
OMIM:619194 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Macrodontia of permanent maxillary central incisor, Long nose, Delayed eruption of teeth, Microco... |
OMIM:257850 |
Burn-Mckeown Syndrome |
|
Short nose, Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia |
ORPHA:1200 |
Gapo Syndrome |
|
Eruption failure, Wide anterior fontanel, High, narrow palate, Sparse eyebrow, Sparse eyelashes, ... |
OMIM:230740 |
Monosomy 5P |
|
High palate, Recurrent fractures, Microretrognathia, Finger syndactyly, Small hand, Abnormality o... |
ORPHA:281 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Rectal prolapse, Stercoral ulcer, Hematochezia |
ORPHA:209964 |
Otopalatodigital Syndrome, Type I |
|
Cleft palate, Short 3rd metacarpal, Downslanted palpebral fissures, Broad hallux, Short nose, San... |
OMIM:311300 |
Cutis Laxa-Marfanoid Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Emphysema |
ORPHA:171719 |
Teebi Hypertelorism Syndrome 1 |
|
Upslanted palpebral fissure, Coronal craniosynostosis, Micrognathia, Small hand, Depressed nasal ... |
OMIM:145420 |
Craniosynostosis 6 |
|
Brachycephaly, Plagiocephaly, Craniosynostosis, Delayed cranial suture closure, Turricephaly |
OMIM:616602 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Brachycephaly, Cleft palate, Sparse eyebrow, Small hand, Micrognathia, Abnormality of the kidney,... |
ORPHA:459061 |
Bardet-Biedl Syndrome 16 |
|
External genital hypoplasia, Renal agenesis, Abnormality of the kidney, Renal dysplasia, Bronchio... |
OMIM:615993 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Postaxial polydactyly, Retrognathia, Unilateral renal agenesis, Hyperechogenic kidneys, Dry skin,... |
OMIM:614576 |
3Mc Syndrome 2 |
|
Cleft upper lip, Joint hypermobility, Cleft palate, Prominence of the premaxilla, Craniosynostosi... |
OMIM:265050 |
Frontometaphyseal Dysplasia |
|
Cleft palate, Craniosynostosis, Limitation of movement at ankles, Ureteral obstruction, Limitatio... |
ORPHA:1826 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Short nose, Depressed nasal ridge |
ORPHA:1355 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Brachydactyly, Syndactyly, Coloboma, Peters anomaly, Iris coloboma, Clinodactyly, Ocular anterior... |
OMIM:610023 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Depressed nasal ridge, Short fourth metatarsal, Retrognathia, Thin vermilion border, Brachydactyl... |
ORPHA:464288 |
Parenti-Mignot Neurodevelopmental Syndrome |
|
Prominent nasal tip, Craniosynostosis, Upslanted palpebral fissure, Micrognathia, Epicanthus, Fro... |
OMIM:619873 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Peutz-Jeghers Syndrome |
|
Bladder polyp, Neoplasm of the pancreas, Intestinal bleeding, Multiple gastric polyps, Intussusce... |
OMIM:175200 |
Neuronal Intestinal Pseudoobstruction |
|
Malabsorption, Congenital diaphragmatic hernia |
ORPHA:99811 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Short distal phalanx of finger, Metaphyseal dysplasia, Sparse eyebrow, Craniosynostosis, Sparse e... |
OMIM:250410 |
Clark-Baraitser Syndrome |
|
High palate, Brachycephaly, Low hanging columella, Upslanted palpebral fissure, Dolichocephaly, D... |
OMIM:617752 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Cholelithiasis, Giant cell hepatitis, Camptodactyly of finger, Bilateral ptosis, Jaundice |
OMIM:214980 |
Brachydactyly, Type B1 |
|
Wide anterior fontanel, Joint contracture of the hand, Micropenis, Delayed cranial suture closure... |
OMIM:113000 |
Fibular Hemimelia |
|
Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip sublu... |
ORPHA:93323 |
Developmental And Epileptic Encephalopathy 73 |
|
Short nose, Midface retrusion, Flexion contracture, Narrow nasal bridge |
OMIM:618379 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Anal atresia, Convex nasal ridge, Sparse eyebrow, Unilateral renal agenesis, Thin vermilion borde... |
OMIM:618419 |
Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Split foot, Lacrimal duct aplasia, Split hand, Cutaneous finger syndactyly, T... |
DECIPHER:46 |
Bardet-Biedl Syndrome 12 |
|
Polydactyly, Rod-cone dystrophy |
OMIM:615989 |
Facial Paresis, Hereditary Congenital, 3 |
|
Micrognathia, Depressed nasal bridge, Epicanthus, Short nose, Anteverted nares, Dysphagia, Midfac... |
OMIM:614744 |
Distal 22Q11.2 Microduplication Syndrome |
|
High palate, Bulbous nose, Depressed nasal ridge, Optic disc coloboma, Tapered finger, Downslante... |
ORPHA:261337 |
Pde4D Haploinsufficiency Syndrome |
|
Broad phalanx, Depressed nasal bridge, Cone-shaped epiphysis, Upper limb undergrowth, Broad hallu... |
ORPHA:439822 |
Frontometaphyseal Dysplasia 1 |
|
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Scapular w... |
OMIM:305620 |
Roberts-Sc Phocomelia Syndrome |
|
High palate, Cleft palate, Craniosynostosis, Shallow orbits, Long penis, Downslanted palpebral fi... |
OMIM:268300 |
Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
Upslanted palpebral fissure, Dolichocephaly, Broad hallux phalanx, Midface retrusion, Trigonoceph... |
ORPHA:168624 |
Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly |
OMIM:610140 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity, Cleft palate, Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow, Mi... |
ORPHA:1794 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Depressed nasal bridge, Abnormality of the wrist, Epicanthus, Abnormal thumb m... |
ORPHA:1825 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Congenital diaphragmatic hernia, Inguinal hernia, Multilobulated s... |
OMIM:601186 |
Lipoma Of The Conjunctiva |
|
Conjunctival lipoma |
OMIM:151700 |
Vacterl/Vater Association |
|
Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Hypoplasia of penis, Renal agenesis,... |
ORPHA:887 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent fractures, Osteomyelitis, Craniosynostosis, Osteopenia, Papule, Skin ulcer, Skin vesicl... |
ORPHA:2314 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Depressed nasal ridge, Short humerus, Brachydactyly, Deviation... |
ORPHA:2831 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Hennekam-Beemer Syndrome |
|
Macule, Clinodactyly of the 5th finger, Upslanted palpebral fissure, Delayed cranial suture closu... |
ORPHA:2135 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Periportal fibrosis, Abnormal lung lobation... |
OMIM:263210 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Short distal phalanx of finger, Plagiocephaly, Clinodactyly of the 5th finger, Short palpebral fi... |
ORPHA:2163 |
Hypomandibular Faciocranial Dysostosis |
|
Trigonocephaly, Aplasia/Hypoplasia of the tongue, Cleft palate, Upslanted palpebral fissure, Cran... |
ORPHA:1790 |
Isolated Osteopoikilosis |
|
Abnormality of femur morphology, Joint stiffness, Abnormal bone ossification, Sclerosis of foot b... |
ORPHA:166119 |
Tonne-Kalscheuer Syndrome |
|
Velopharyngeal insufficiency, Congenital diaphragmatic hernia, Micropenis, Hypospadias, Downslant... |
OMIM:300978 |
Microgastria-Limb Reduction Defects Association |
|
Gastroesophageal reflux, Intestinal malrotation, Unilateral renal agenesis, Anophthalmia, Cystic ... |
OMIM:156810 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia, Emphysema |
OMIM:614100 |
Femur-Fibula-Ulna Complex |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short humerus, Micromel... |
ORPHA:2019 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Depressed nasal brid... |
ORPHA:457395 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Renal agenesis, Unilateral renal agene... |
OMIM:601076 |
Brittle Cornea Syndrome 2 |
|
Flat cornea, Recurrent fractures, Megalocornea, Keratoconus, Keratoglobus, Joint hypermobility, S... |
OMIM:614170 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Overlapping toe, Bulbous nose, Microretrognathia, Cleft palate, Retinal coloboma, Dolichocephaly,... |
OMIM:618571 |
Braddock Syndrome |
|
Unilateral renal agenesis, Micrognathia, Epicanthus, Blepharophimosis, Preaxial hand polydactyly |
ORPHA:52047 |
Fg Syndrome Type 1 |
|
High palate, Malrotation of colon, Craniosynostosis, Limited elbow extension and supination, Pylo... |
ORPHA:93932 |
Codas Syndrome |
|
Depressed nasal bridge, Hydroureter, Congenital hip dislocation, Brachydactyly, Delayed eruption ... |
ORPHA:1458 |
Tetrasomy 12P |
|
Thick upper lip vermilion, Anal atresia, Abnormal soft palate morphology, Sparse eyebrow, Upslant... |
ORPHA:884 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Microretrognathia, Downslanted palpebral fissures, Epicanthus, Short nose, Frontal bossing, Narro... |
OMIM:613603 |
Cebalid Syndrome |
|
Plagiocephaly, Depressed nasal ridge, Platystencephaly, Dolichocephaly, Depressed nasal bridge, S... |
OMIM:618774 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Ambiguous genitalia, female, Hiatus hernia, Bicornuate uterus, Unilateral renal agenesis, Increas... |
OMIM:606408 |
Coach Syndrome 1 |
|
Hepatomegaly, Nephronophthisis, Intrahepatic bile duct dilatation, Unilateral renal agenesis, Spl... |
OMIM:216360 |
Iga Pemphigus |
|
Skin erosion, Annular cutaneous lesion, Acantholysis, Skin plaque, Skin vesicle |
ORPHA:555905 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Short distal phalanx of the thumb, Dermatochalasis, Gastroesophageal reflux, Unilateral renal age... |
ORPHA:221139 |
Lacrimoauriculodentodigital Syndrome |
|
Corneal ulceration, Abnormal lacrimal duct morphology, Absent thumb, Hypoplasia of the radius, Ab... |
ORPHA:2363 |
15Q24 Microdeletion Syndrome |
|
Anal atresia, Abnormality of toe, Intestinal atresia, Small hand, Hypospadias, Broad eyebrow, Dep... |
ORPHA:94065 |
Perlman Syndrome |
|
High, narrow palate, Hypoplasia of penis, Retrognathia, Micrognathia, Dolichocephaly, Nephroblast... |
ORPHA:2849 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Duplication of metatarsal bones, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe |
OMIM:600384 |
Cornelia De Lange Syndrome 2 |
|
High palate, Brachycephaly, Gastroesophageal reflux, Thick eyebrow, Small hand, Micrognathia, Bra... |
OMIM:300590 |
Proximal Symphalangism |
|
Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Brachydactyly, Synostos... |
ORPHA:3250 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Overlapping toe, Clinodactyly of the 5th finger, Short palpebral fissure, Sparse eyebrow, Sparse ... |
OMIM:613026 |
Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Short hallux, Midface retrusion, Broad thumb, Hallux varus, Short foot, Bic... |
ORPHA:93258 |
Smith-Magenis Syndrome |
|
Cleft palate, Depressed nasal bridge, Abnormality of the ureter, Microcornea, Short nose, Tented ... |
ORPHA:819 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Multiple joint contractures, Craniosynostosis, Microphallus, 2-5 finger syndactyly, Retrognathia,... |
ORPHA:468631 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Plagiocephaly, Bulbous nose, Talipes equinovarus, Macroglossia, Everted lower lip vermilion, Upsl... |
OMIM:616789 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Median cleft palate, Hepatomegaly, Recurrent respiratory infections, Microphthalmia |
ORPHA:2432 |
Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Short nose, Short columella |
OMIM:155050 |
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot |
OMIM:314360 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Intestinal malrotation, Multicystic kidney dysplasia, Abnormal... |
ORPHA:3032 |
Proteus Syndrome |
|
Calvarial hyperostosis, Dolichocephaly, Depressed nasal bridge, Limbal dermoid, Thin bony cortex,... |
OMIM:176920 |
Crouzon Syndrome |
|
Keratitis, Coronal craniosynostosis, Shallow orbits, Frontal bossing, Sagittal craniosynostosis, ... |
OMIM:123500 |
Mycophenolate Mofetil Embryopathy |
|
Tracheomalacia, Tracheoesophageal fistula, Micrognathia, Bifid nose, Iris coloboma, Ectopic kidne... |
ORPHA:268249 |
Renal Agenesis |
|
Anal atresia, Renal agenesis, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilat... |
ORPHA:411709 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Micrognathia, Broad nasal tip, Brachydactyly, Camptodactyly, Frontal bossing, Short nose, Long ey... |
OMIM:618529 |
7Q11.23 Microduplication Syndrome |
|
High palate, Craniosynostosis, Broad nasal tip, Single transverse palmar crease, Horizontal eyebr... |
ORPHA:96121 |
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies |
|
High, narrow palate, Swan neck-like deformities of the fingers, Upslanted palpebral fissure, Ever... |
OMIM:619880 |
Hypophosphatasia |
|
Recurrent fractures, Craniosynostosis, Skin dimple, Skin dimple over apex of long bone angulation... |
ORPHA:436 |
Microphthalmia, Syndromic 13 |
|
Coloboma, Microcornea, Ptosis |
OMIM:300915 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Cleft palate, Radioulnar synostosis, Single transverse palmar crease, Short nose, Enamel agenesis... |
OMIM:614701 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly, Rod-cone dystrophy, Retinal dystrophy |
OMIM:615987 |
Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... |
ORPHA:93409 |
3C Syndrome |
|
Cleft palate, Depressed nasal bridge, Downslanted palpebral fissures, Short nose, Ectopic anus, A... |
ORPHA:7 |
Congenital Disorder Of Glycosylation, Type Iin |
|
Osteopenia, Craniosynostosis, Joint hypermobility, Astigmatism |
OMIM:616721 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Talipes equinovarus, Unilateral renal agenesis, Bilateral renal agenesis, Vertebral fusion, Urete... |
OMIM:618845 |
Restrictive Dermopathy 2 |
|
Short clavicles, Gastroesophageal reflux, Microretrognathia, Convex nasal ridge, Rectal prolapse,... |
OMIM:619793 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Keratitis, Joint contracture of the hand, Macroglossia, Craniosynostosis, Arthropathy, Scaphoceph... |
OMIM:618523 |
Saethre-Chotzen Syndrome |
|
Cleft palate, Long nose, Shallow orbits, Radioulnar synostosis, Partial duplication of the distal... |
OMIM:101400 |
Musculocontractural Ehlers-Danlos Syndrome |
|
High palate, Decreased palmar creases, Slender finger, Cleft palate, Craniosynostosis, Malrotatio... |
ORPHA:2953 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dolichocephaly, Wormian bones, Pathologic fracture, Abnormal cortical bone morphology, Concave na... |
ORPHA:166277 |
Fetal Trimethadione Syndrome |
|
High palate, Micrognathia, Hypospadias, Depressed nasal bridge, Bilateral single transverse palma... |
ORPHA:1913 |
Donnai-Barrow Syndrome |
|
Bicornuate uterus, Congenital diaphragmatic hernia, Intestinal malrotation, Downslanted palpebral... |
ORPHA:2143 |
Aarskog-Scott Syndrome |
|
Cleft palate, Megalocornea, Delayed eruption of teeth, Downslanted palpebral fissures, Single tra... |
ORPHA:915 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Short 1st metacarpal, Depressed nasal bridge, Monkey wrench f... |
OMIM:251450 |
Adducted Thumbs Syndrome |
|
Arthrogryposis multiplex congenita, Craniosynostosis |
OMIM:201550 |
Craniosynostosis With Ocular Abnormalities And Hallucal Defects |
|
Convex nasal ridge, Absent hallux, Craniosynostosis, Dolichocephaly, Microcornea, Frontal bossing... |
OMIM:608279 |
Chromosome 17Q12 Deletion Syndrome |
|
High palate, Sparse eyebrow, Depressed nasal bridge, Hypoplasia of the bladder, Upper limb underg... |
OMIM:614527 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
High palate, Bulbous nose, Depressed nasal bridge, Downslanted palpebral fissures, Epicanthus, Sh... |
OMIM:614105 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Bulbous nose, Sparse eyebrow, Tapered finger, Downslanted palpebral fissures, Tented upper lip ve... |
ORPHA:487796 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Brachydactyly, Bilateral single transverse palmar creases, Epicanthus, Iris ... |
ORPHA:2377 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Syndactyly, 2-4 toe syndactyly |
OMIM:241000 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Broad thumb, B... |
OMIM:102510 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Retrognathia, Broad nasal tip, Downslanted palpebral fissures, Short nose, Enuresis |
OMIM:613670 |
Emanuel Syndrome |
|
High palate, Anal atresia, Gastroesophageal reflux, Congenital diaphragmatic hernia, Cleft palate... |
OMIM:609029 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Bulbous nose, Clinodactyly of the 5th finger, Microretrognathia, Talipes equinovarus, 2-3 toe syn... |
OMIM:236500 |
White-Kernohan Syndrome |
|
Depressed nasal bridge, Horizontal eyebrow, Long eyelashes, Horseshoe kidney, Tented upper lip ve... |
OMIM:619426 |
15q26 overgrowth syndrome |
|
High palate, Bulbous nose, Craniosynostosis, Tapered finger, Downslanted palpebral fissures, Hors... |
DECIPHER:81 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Inguinal hernia, Narrow palpebral fissure, Bilateral microphthalmos, Decreased muscle mass, Cigar... |
OMIM:608763 |
Coffin-Siris Syndrome 7 |
|
Clinodactyly of the 5th finger, Thick eyebrow, Convex nasal ridge, Depressed nasal bridge, Brachy... |
OMIM:618027 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Postaxial polydactyly, Attenuation of retinal blood vessels, Cone/cone-rod dy... |
OMIM:614500 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Bulbous nose, Elbow ankylosis, Craniosynostosis, Femoral bowing, Depressed nasal bridge, Radiouln... |
ORPHA:95699 |
3Mc Syndrome 1 |
|
Cleft upper lip, Wide anterior fontanel, Clinodactyly of the 5th finger, Cleft palate, Coronal cr... |
OMIM:257920 |
Costello Syndrome |
|
Narrow palate, Gastroesophageal reflux, Macroglossia, Lack of skin elasticity, Redundant skin, De... |
ORPHA:3071 |
Marshall Syndrome |
|
Macrodontia of permanent maxillary central incisor, Cleft palate, Depressed nasal bridge, Clinoda... |
OMIM:154780 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cleft palate, Osteopenia, Short nose, Flexion contracture, Short femur, Micrognathia, Anteverted ... |
OMIM:616897 |
Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Cleft palate, Depressed nasal ridge, Depressed nasal bridge, Abno... |
ORPHA:1248 |
Femoral-Facial Syndrome |
|
Preaxial foot polydactyly, Coxa vara, Renal hypoplasia/aplasia, Talipes equinovarus, Aplasia/Hypo... |
ORPHA:1988 |
Aymé-Gripp Syndrome |
|
Cleft palate, Craniosynostosis, Depressed nasal bridge, Shallow orbits, Megalocornea, Tapered fin... |
ORPHA:1272 |
Non-Distal Trisomy 13Q |
|
High palate, Thick eyebrow, Everted lower lip vermilion, Thin vermilion border, Micrognathia, Ara... |
ORPHA:1702 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
High palate, Plagiocephaly, Bulbous nose, Macroglossia, Upslanted palpebral fissure, Arthrogrypos... |
ORPHA:369891 |
Anencephaly 2 |
|
Anophthalm |