Syngnathia |
|
Cleft palate |
OMIM:119550 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Frontal bossing, Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily sublux... |
OMIM:311895 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
2q33.1 deletion syndrome |
|
High palate, Cleft palate |
DECIPHER:51 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
Isolated Dandy-Walker Malformation |
|
Encephalocele, Frontal bossing, Cleft palate, Prominent occiput, Platybasia |
ORPHA:217 |
Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... |
OMIM:612961 |
Parc Syndrome |
|
Cleft palate |
OMIM:600331 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Abnormal hand morphology, Small hand, Cleft palate, Short foot, Midface retrusion |
OMIM:300261 |
Adenylosuccinate Lyase Deficiency |
|
Thin upper lip vermilion, Flat occiput, Microcephaly, Brachycephaly, Long philtrum, Smooth philtrum |
ORPHA:46 |
Holzgreve Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:236110 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Craniosynostosis, Microcephaly, Cleft palate, Intrauterine growth reta... |
OMIM:600252 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Cleft palate |
OMIM:258320 |
Adducted Thumbs Syndrome |
|
Craniosynostosis, Microcephaly, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, ... |
OMIM:201550 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... |
ORPHA:3104 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly, Brachycephaly, Midface retrusion |
ORPHA:35099 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
Facial Clefting, Oblique, 1 |
|
Cleft palate, Cleft upper lip |
OMIM:600251 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Flat occiput, Brachycephaly, Microcephaly |
ORPHA:2898 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcephaly, High palate, Brachycephaly, Narrow mouth |
ORPHA:2528 |
Anencephaly 2 |
|
Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Sandal gap, Microcephaly, Brachycephaly, Downt... |
OMIM:617752 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Wide mouth, Thick lower lip vermilion, Thick upper lip vermilion, Brachycephaly |
OMIM:309545 |
Kleefstra Syndrome 2 |
|
Microcephaly, Plagiocephaly, Everted lower lip vermilion, Midface retrusion, Bifid uvula |
OMIM:617768 |
Sporadic Fetal Brain Disruption Sequence |
|
Prominent occiput, Plagiocephaly, Microcephaly |
ORPHA:1665 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:94066 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
Aminopterin Syndrome Sine Aminopterin |
|
Frontal bossing, Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Brachyda... |
OMIM:600325 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Cleft palate |
OMIM:217150 |
Parietal Foramina 1 |
|
Parietal foramina, Encephalocele, Cleft palate, Cleft upper lip |
OMIM:168500 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion |
OMIM:616898 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly... |
OMIM:614416 |
2Q32Q33 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe clinodactyly, Dental crowding, Arachnodactyly, Microcephaly, Brachyceph... |
ORPHA:251019 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft palate, Cleft upper lip |
OMIM:120433 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Talipes equinovarus, Tented upper lip vermilion, Brachycephaly, Long philtrum |
OMIM:619972 |
Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supern... |
OMIM:604757 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Abnormal distal phalanx morphology of finger, Microcephaly, Brachycephaly, Furrowed tongue, Ulnar... |
ORPHA:1387 |
Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Clinodactyly, Dental malocclusion, Brachycephaly, Cone-shap... |
OMIM:602849 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Sandal gap, Microcephaly, Tapered finger, Cleft lip, Narrow mouth, Small hand, Cleft palate, Plag... |
OMIM:618089 |
Chopra-Amiel-Gordon Syndrome |
|
Thin upper lip vermilion, Microcephaly, Cleft lip, Pierre-Robin sequence, Brachycephaly, Cleft pa... |
OMIM:619504 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Turricephaly, Craniosynostosis, Micromelia, Split hand, Brachycephaly, Cleft p... |
ORPHA:2145 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D... |
OMIM:605282 |
Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip |
OMIM:614402 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Craniosynostosis 6 |
|
Turricephaly, Craniosynostosis, Microcephaly, Parietal foramina, Brachycephaly, Plagiocephaly, Ri... |
OMIM:616602 |
Microphthalmia, Syndromic 8 |
|
Microcephaly, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central inc... |
OMIM:601349 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Craniosynostosis, Pyloric stenosis, Brachycephaly, Hig... |
ORPHA:314575 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Tarsal synostosis, Spina bifida, Camptodactyly of finger, High, narrow palate,... |
ORPHA:957 |
Diprosopus |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1681 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Frontal bossing, Dental crowding, Arachnodactyly, Adducted thumb, Brachycephaly, High palate, Bil... |
OMIM:615539 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Tetraploidy |
|
Microcephaly, Radial club hand, Cleft palate, Short philtrum, Biparietal narrowing, Intrauterine ... |
ORPHA:3305 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Frontal bossing, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Metaphyseal wide... |
ORPHA:440354 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Craniosynostosis, Parietal foramina, Cleft lip, Myelomeningocele, Cleft ... |
ORPHA:60015 |
Schisis Association |
|
Encephalocele, Spina bifida, Microcephaly, Micromelia, Anencephaly, Tracheoesophageal fistula, Cl... |
ORPHA:63862 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Cleft upper lip, Absent thumb, Hypoplasia of the radius, Hand oligod... |
OMIM:602418 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius,... |
ORPHA:2476 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Broad proximal phalanges of the hand, Cleft upper lip, High, narrow palate, Clef... |
OMIM:607597 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Oligodontia, Cleft soft palate, Gingival overgrowth, Mesomelia, Umbilical hernia... |
OMIM:616331 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Cleft palate, Plagiocephaly, Decreased calvarial ossification, Trigonocephaly, ... |
OMIM:618265 |
Acrofrontofacionasal Dysostosis |
|
Brachydactyly, Camptodactyly of finger, Micromelia, Non-midline cleft lip, Brachycephaly, Cleft p... |
ORPHA:1784 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short h... |
ORPHA:93258 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Syndactyly, Brachydactyly, Intestinal malrotation, Microcephaly, Veloph... |
OMIM:614701 |
Muenke Syndrome |
|
Tarsal synostosis, High, narrow palate, Brachycephaly, Plagiocephaly, Short foot, Short palm, Car... |
ORPHA:53271 |
Lymphatic Malformation 5 |
|
Cleft palate |
OMIM:153200 |
Aica-Ribosiduria |
|
Wide mouth, Thin upper lip vermilion, Brachycephaly |
ORPHA:250977 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Flat occiput, High, narrow palate, Submucous cleft ha... |
ORPHA:2780 |
Osteogenesis Imperfecta, Type Xx |
|
Tented upper lip vermilion, Microcephaly, Brachycephaly, Narrow palate, Agenesis of permanent tee... |
OMIM:618644 |
Orofaciodigital Syndrome V |
|
Frontal bossing, Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Sandal gap, H... |
OMIM:174300 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad hallux, Microcephaly, Cle... |
OMIM:614749 |
Cdags Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Rectourethral fistula, Brachycepha... |
OMIM:603116 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... |
OMIM:611561 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Abnormality of the denti... |
ORPHA:1798 |
Achard Syndrome |
|
Broad skull, Arachnodactyly, Brachycephaly |
OMIM:100700 |
Atelosteogenesis Type Ii |
|
Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers... |
ORPHA:56304 |
Hypomandibular Faciocranial Dysostosis |
|
Aplasia/Hypoplasia of the tongue, Craniosynostosis, Narrow mouth, Brachycephaly, Cleft palate, Mi... |
ORPHA:1790 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal synostosis... |
ORPHA:85199 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Thin upper lip vermilion, Thick lower lip vermilion, Cranial asymmetry, Long philtrum |
ORPHA:137634 |
Faciocardiorenal Syndrome |
|
Cleft palate, Plagiocephaly, Hypodontia, Narrow mouth, Smooth philtrum |
ORPHA:1973 |
Baller-Gerold Syndrome |
|
Frontal bossing, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Malabsorption, Aplasi... |
ORPHA:1225 |
Crouzon Syndrome |
|
Frontal bossing, Dental crowding, Sagittal craniosynostosis, Brachycephaly, High palate, Lambdoid... |
OMIM:123500 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Frontal bossing, Craniosynostosis, Proboscis, Postaxial polydactyly, Postaxial han... |
OMIM:605627 |
Hemimegalencephaly |
|
Cranial asymmetry |
ORPHA:99802 |
Craniosynostosis And Dental Anomalies |
|
Flat occiput, Dental crowding, Brachycephaly, Coronal craniosynostosis, High palate, Short phalan... |
OMIM:614188 |
Raine Syndrome |
|
Natal tooth, Bowing of the long bones, Micromelia, Protruding tongue, Microcephaly, Long hallux, ... |
OMIM:259775 |
Holoprosencephaly 7 |
|
Frontal bossing, Bilateral cleft palate, Flat occiput, Median cleft lip, Bilateral cleft lip, Mic... |
OMIM:610828 |
Holoprosencephaly 3 |
|
Proboscis, Microcephaly, Cleft lip, Cleft palate, Midface retrusion, Solitary median maxillary ce... |
OMIM:142945 |
Orofaciodigital Syndrome Type 2 |
|
Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Hamartoma of tong... |
ORPHA:2751 |
Arthrogryposis, Distal, Type 4 |
|
2-5 finger cutaneous syndactyly, Cranial asymmetry, Camptodactyly of 2nd-5th fingers, Talipes equ... |
OMIM:609128 |
Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Unilateral cleft palate, Craniosynostosis, Abnormality of the d... |
ORPHA:1299 |
Baller-Gerold Syndrome |
|
Brachycephaly, Patellar hypoplasia, Anteriorly placed anus, High palate, Spina bifida occulta, Bi... |
OMIM:218600 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Scaphocephaly, Cranial asymmetry, Microcephaly |
OMIM:614886 |
Frontofacionasal Dysplasia |
|
Cleft upper lip, Brachycephaly, Orofacial cleft, Bifid uvula, Cranium bifidum occultum, Midface r... |
OMIM:229400 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormal toe morphology, Abnormal finger morphology, Abnormality of dental color, Cranial asymmetry |
OMIM:163200 |
Wiedemann-Rautenstrauch Syndrome |
|
Downturned corners of mouth, Short philtrum, Premature loss of teeth, Long toe, Cranial asymmetry... |
ORPHA:3455 |
Brugada Syndrome |
|
|
ORPHA:130 |