Deafness, Autosomal Recessive 109 |
|
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment |
OMIM:618013 |
Deafness, Autosomal Dominant 80 |
|
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... |
OMIM:619274 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... |
OMIM:600791 |
Deafness-Oligodontia Syndrome |
|
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo |
ORPHA:3230 |
Deafness, Autosomal Dominant 77 |
|
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Opticocochleodentate Degeneration |
|
Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
2-3 toe syndactyly, Choanal stenosis, Hypoplasia of the brainstem, Narrow nasal ridge, Cerebellar... |
OMIM:236500 |
Waardenburg Syndrome, Type 2E |
|
Sensorineural hearing impairment, Aplasia of the semicircular canal, Hypoplasia of the semicircul... |
OMIM:611584 |
Teebi Hypertelorism Syndrome 2 |
|
High palate, Wide anterior fontanel, Delayed eruption of teeth, Microdontia, Short nose, Everted ... |
OMIM:619736 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Low-set ears, Microtia, Underdevelo... |
ORPHA:79113 |
Otodental Syndrome |
|
Abnormal molar morphology, High-frequency sensorineural hearing impairment, Odontoma, Long philtr... |
ORPHA:2791 |
Intellectual Disability, Birk-Barel Type |
|
Incisor macrodontia, Congenital finger flexion contractures, Foot joint contracture, Hyperactivit... |
ORPHA:166108 |
Otodental Dysplasia |
|
Enamel hypoplasia, Sensorineural hearing impairment, Long philtrum, Delayed eruption of teeth, Pu... |
OMIM:166750 |
Chromosome 16Q22 Deletion Syndrome |
|
Sensorineural hearing impairment, Poor suck, Wide nasal bridge, Wide anterior fontanel, High pala... |
OMIM:614541 |
Lissencephaly, X-Linked, 2 |
|
High palate, Diarrhea, Wide nasal bridge, Wide anterior fontanel, Long philtrum, Micrognathia, Fe... |
OMIM:300215 |
Rubinstein-Taybi Syndrome 2 |
|
Retrognathia, Dental malocclusion, Talon cusp, Convex nasal ridge, Narrow palate, High palate, Pr... |
OMIM:613684 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Hearing abnormality, Abnormality of the knee, Depressed nasal ridge, Wide nasal bridge, Prominenc... |
ORPHA:2412 |
Deafness, Autosomal Dominant 9 |
|
Cochlear degeneration, Postlingual sensorineural hearing impairment, Tinnitus, Vertigo |
OMIM:601369 |
Smith-Magenis Syndrome |
|
Hyperactivity, Mandibular prognathia, Everted upper lip vermilion, Wide nasal bridge, Velopharyng... |
OMIM:182290 |
Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, High palate, Wide anterior fontanel, Ataxia, Short nose, Posteriorly rotated ears,... |
OMIM:601853 |
Acrocraniofacial Dysostosis |
|
Conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia, Pectus excav... |
ORPHA:949 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Aplasia... |
ORPHA:2570 |
Joubert Syndrome 18 |
|
Retrognathia, Lobulated tongue, Agenesis of cerebellar vermis, Arrhinencephaly, Talipes equinovar... |
OMIM:614815 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the thumb, Spinal dysrap... |
ORPHA:1908 |
Larsen-Like Syndrome |
|
Dental malocclusion, Conductive hearing impairment, Joint dislocation, Wide anterior fontanel, Ab... |
OMIM:608545 |
Lethal Osteosclerotic Bone Dysplasia |
|
Delayed cranial suture closure, Retrognathia, Mandibular aplasia, Depressed nasal ridge, Microgna... |
ORPHA:1832 |
Craniometadiaphyseal Dysplasia |
|
Genu varum, Genu valgum, Mandibular prognathia, High palate, Wide anterior fontanel, Natal tooth,... |
OMIM:269300 |
Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Conductive hearing impairment, Cranium bifidum occultum, Hypoplasti... |
OMIM:136760 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
High palate, Wide anterior fontanel, Long philtrum, Death in infancy, Epiphyseal stippling, Large... |
OMIM:614872 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Abnormality of the ear, Micrognathia, Split foot, Split hand, Malar flattening, C... |
OMIM:183700 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Abnormal bone ossification, Abnormality of the elbow, Wide anterior fontanel, Abnormality of cran... |
ORPHA:163649 |
Hydrolethalus Syndrome 2 |
|
Micrognathia, Anencephaly, Preaxial foot polydactyly, Hydrocephalus, Postaxial foot polydactyly, ... |
OMIM:614120 |
Pendred Syndrome |
|
Cochlear malformation, Abnormal vestibular function, Congenital sensorineural hearing impairment |
OMIM:274600 |
Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Wide nasal bridge, Delayed eruption of teeth, Pectus excavatum, Everted ... |
ORPHA:915 |
Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
Pendred Syndrome |
|
Sensorineural hearing impairment, Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Abnorm... |
ORPHA:705 |
48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Thick lower lip vermilion, Taurodontia, Radioulnar synostos... |
ORPHA:10 |
Lowry-Maclean Syndrome |
|
Convex nasal ridge, Micrognathia, Cleft palate, Widely patent coronal suture, Choanal atresia, Ta... |
ORPHA:2409 |
Brachydactyly, Type C |
|
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... |
OMIM:113100 |
Apert Syndrome |
|
Morphological abnormality of the semicircular canal, Respiratory insufficiency, Conductive hearin... |
ORPHA:87 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... |
OMIM:304400 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Underdeveloped nasal alae, Retrognathia, Convex nasal ridge, Flexion contracture, Wide anterior f... |
OMIM:263210 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, High palate, Abnormality of the elbow, Kyphosis, Wide anterior fontanel,... |
ORPHA:3098 |
Snijders Blok-Campeau Syndrome |
|
Enamel hypoplasia, High palate, Prominent nose, Wide nasal bridge, Widely spaced teeth, Taurodont... |
OMIM:618205 |
49,Xxxxy Syndrome |
|
Delayed eruption of teeth, Taurodontia, Hip dislocation, Elbow dislocation, Holoprosencephaly, Cl... |
ORPHA:96264 |
Branchiootic Syndrome |
|
Conductive hearing impairment, Lip pit, Sensorineural hearing impairment, Facial palsy, Micrognat... |
ORPHA:52429 |
Czeizel-Losonci Syndrome |
|
Hypoplastic helices, 2-3 finger syndactyly, Micrognathia, Spina bifida occulta, 1-2 finger syndac... |
ORPHA:2437 |
Osteogenesis Imperfecta, Type Iii |
|
Pulmonary arterial hypertension, Protrusio acetabuli, Biconcave vertebral bodies, Dentinogenesis ... |
OMIM:259420 |
Atkin-Flaitz Syndrome |
|
Macrotia, Thick vermilion border, Maxillary lateral incisor microdontia, Everted lower lip vermil... |
ORPHA:1193 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal antihelix morphology, Convex nasal ridge, Webbed neck, Finger syndactyly, Microtia, Micr... |
ORPHA:2145 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Conductive hearing impairment, Wide nasal bridge, Micrognathia, Camptodactyl... |
OMIM:601390 |
Charlie M Syndrome |
|
Triphalangeal thumb, Macrotia, Finger syndactyly, Wide nasal bridge, Micrognathia, Abnormal metac... |
ORPHA:1406 |
Cleft Lip/Palate |
|
Dental malocclusion, Conductive hearing impairment, Abnormal number of permanent teeth, Unilatera... |
ORPHA:199306 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia,... |
OMIM:300614 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Tapered finger, Wide nasal bridge, Delayed eruption of teeth, Micrognathia, Camptodactyly, Overla... |
OMIM:619148 |
Melanocytic Nevus Syndrome, Congenital |
|
Long philtrum, Deep philtrum, Narrow nasal ridge, Prominence of the premaxilla, Short nose, Evert... |
OMIM:137550 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Cleft lower lip, Cleft upper lip, Abnormal mandible morphology, Fusion of gu... |
ORPHA:401942 |
Malan Syndrome |
|
Retrognathia, Mandibular prognathia, Coxa valga, Advanced eruption of teeth, Hyperplasia of the p... |
OMIM:614753 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
High palate, Wide anterior fontanel, Long philtrum, Feeding difficulties in infancy, Short nose, ... |
OMIM:219200 |
Lujan-Fryns Syndrome |
|
Camptodactyly of finger, High palate, Micrognathia, Short philtrum, Pectus excavatum, Hypoplasia ... |
ORPHA:776 |
Marshall-Smith Syndrome |
|
Irregular dentition, Bilateral conductive hearing impairment, Microdontia, Cholesteatoma, Pectus ... |
OMIM:602535 |
Bartsocas-Papas Syndrome 2 |
|
Wide anterior fontanel, Micrognathia, Axillary pterygium, Antecubital pterygium, Popliteal pteryg... |
OMIM:619339 |
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Widely-spaced incisors, Optic atrophy, Hypoplasia of the maxilla, Thin upper lip vermilion, Smoot... |
OMIM:618737 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Wide anterior fontanel, Kyphosis, Micrognathia, Depressed nasal bridge, Anteverted nares, Umbilic... |
OMIM:618272 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Pectus excavatum, Scapular winging, Abnormal form of the vertebral bodie... |
ORPHA:1327 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Postaxial hand pol... |
ORPHA:1106 |
Smith-Magenis Syndrome |
|
Cleft upper lip, Mandibular prognathia, Conductive hearing impairment, Delayed eruption of primar... |
ORPHA:819 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Aplasia/hypoplasia of the femur, Micrognathia, Dislocated radial head, C... |
ORPHA:2839 |
Moebius Syndrome |
|
Short phalanx of finger, Hand clenching, Hypoplasia of the brainstem, High palate, Aplasia/Hypopl... |
OMIM:157900 |
Hydrolethalus |
|
Retrognathia, Micrognathia, Arrhinencephaly, Anencephaly, Hydrocephalus, Bifid uvula, Submucous c... |
ORPHA:2189 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Delayed closure of the anterior fontanelle, Prominent nose, Wide anterior fontanel, Wide nasal br... |
OMIM:614886 |
Zellweger Syndrome |
|
Respiratory insufficiency, Hepatic failure, Sensorineural hearing impairment, Wide anterior fonta... |
ORPHA:912 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Optic atrophy, Micrognathia, Microdontia, Abnormal optic disc morphology, Short hallux, Severe se... |
ORPHA:363417 |
Catifa Syndrome |
|
Long philtrum, Delayed eruption of teeth, Microtia, Camptodactyly, Attention deficit hyperactivit... |
OMIM:618761 |
17Q21.31 Microduplication Syndrome |
|
High palate, Micrognathia, Short philtrum, Short nose, Abnormality of the outer ear, Attention de... |
ORPHA:217340 |
Distal Monosomy 10Q |
|
Wide nasal bridge, Micrognathia, Hip dislocation, Morphological abnormality of the vestibule of t... |
ORPHA:96148 |
Van Maldergem Syndrome 2 |
|
Hip subluxation, Irregular dentition, Conductive hearing impairment, Wide nasal bridge, Micrognat... |
OMIM:615546 |
20P12.3 Microdeletion Syndrome |
|
Long philtrum, Wide nasal bridge, Microtia, Hypoplasia of the maxilla, Depressed nasal bridge, Na... |
ORPHA:261295 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Atresia of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the ... |
ORPHA:3236 |
Trisomy 18-Like Syndrome |
|
Micrognathia, Abnormal pinna morphology, Low-set ears, Wide nasal bridge |
OMIM:601161 |
Mandibulofacial Dysostosis With Alopecia |
|
Conductive hearing impairment, Delayed eruption of primary teeth, Wide nasal bridge, Microtia, Lo... |
OMIM:616367 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Conductive hearing impairment, Feeding difficulties in infancy, Micrognathia, Camptodactyly, Disl... |
OMIM:182212 |
Sweeney-Cox Syndrome |
|
Wide nasal bridge, Micrognathia, Prominent metopic ridge, Uplifted earlobe, Cupped ear, Hearing i... |
OMIM:617746 |
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies |
|
Short 5th finger, Micrognathia, Thin upper lip vermilion, Scoliosis, Anteverted nares, Low-set ea... |
OMIM:618608 |
Cranioectodermal Dysplasia |
|
Rhizomelia, Microdontia, Hypodontia, Taurodontia, Pectus excavatum, Everted lower lip vermilion, ... |
ORPHA:1515 |
Crouzon Syndrome |
|
Convex nasal ridge, Narrow palate, Conductive hearing impairment, Narrow internal auditory canal,... |
ORPHA:207 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Prominent nose, Wide anterior fontanel, Wide nasal bridge, High palate, Micrognathia, Short philt... |
OMIM:201170 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Hydrocephalus, Protruding ear, Wide nasal bridge |
OMIM:618302 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, High palate, Wide mouth, Wide nasal bridge, Microtia, Micrognathia, Ecto... |
ORPHA:1703 |
Fibrochondrogenesis 1 |
|
Wide anterior fontanel, Joint contracture of the hand, Long philtrum, Camptodactyly, Widely paten... |
OMIM:228520 |
Progeroid Syndrome, Petty Type |
|
Mandibular prognathia, Wide anterior fontanel, Everted lower lip vermilion, Tooth agenesis, Decre... |
ORPHA:2963 |
Lateral Meningocele Syndrome |
|
Meningocele, Conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia,... |
OMIM:130720 |
3Mc Syndrome 2 |
|
Cleft upper lip, Partial abdominal muscle agenesis, High palate, Limited elbow movement, Wide nas... |
OMIM:265050 |
Cranioectodermal Dysplasia 4 |
|
Sagittal craniosynostosis, Taurodontia, Joint hypermobility, Pectus excavatum, Short distal phala... |
OMIM:614378 |
Heart And Brain Malformation Syndrome |
|
Camptodactyly of finger, Gastroesophageal reflux, Wide anterior fontanel, Wide nasal bridge, Thic... |
OMIM:616920 |
Acrorenal Syndrome |
|
Micrognathia, Abnormal morphology of ulna, Abnormality of tibia morphology, Aplasia/Hypoplasia of... |
ORPHA:971 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Flexion contracture, Prominent nose, Short middle phalanx of the 5th finger, Hip dislocation, Tho... |
OMIM:203550 |
Split-Hand/Foot Malformation 3 |
|
High palate, Camptodactyly, Microretrognathia, Hypoplasia of the maxilla, Split hand, Abnormal pi... |
OMIM:246560 |
Chromosome Xq21 Deletion Syndrome |
|
Incomplete partition of the cochlea, Hearing impairment, Conductive hearing impairment, Progressi... |
OMIM:303110 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Vertebral clefting, Stapes ankylosis, Long philtrum, Wide nasal bridge, Short femoral neck, Velop... |
OMIM:614701 |
Marden-Walker Syndrome |
|
High palate, Wide anterior fontanel, Joint contracture of the hand, Kyphosis, Long philtrum, Micr... |
OMIM:248700 |
Branchiogenic-Deafness Syndrome |
|
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Submucous cleft hard pa... |
OMIM:609166 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Cousin Syndrome |
|
Wrist flexion contracture, Anterior rounding of vertebral bodies, 2-3 toe syndactyly, Humeroradia... |
OMIM:260660 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Aqueductal stenosis, Microtia, Arrhinencephaly, Talipes equinovarus, Radioulna... |
ORPHA:1788 |
Acrootoocular Syndrome |
|
Conductive hearing impairment, Delayed eruption of teeth, Grayish enamel, Micrognathia, Choking e... |
ORPHA:2980 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Depressed nasal ridge, Delayed eruption of teeth, Taurodontia, Hip disloca... |
ORPHA:96263 |
Orofaciodigital Syndrome Vi |
|
Conductive hearing impairment, Toe syndactyly, Micrognathia, Short femur, Radial deviation of fin... |
OMIM:277170 |
Achondroplasia |
|
Short nasal bridge, Wide anterior fontanel, Kyphosis, Central sleep apnea, Flat acetabular roof, ... |
ORPHA:15 |
Bor Syndrome |
|
Retrognathia, Abnormality of the middle ear ossicles, Hypoplasia of the cochlea, Facial palsy, En... |
ORPHA:107 |
Craniofacial-Deafness-Hand Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia involving the nose, Sensorineural hearing impairment,... |
ORPHA:1529 |
Pycnodysostosis |
|
Delayed cranial suture closure, Convex nasal ridge, Micrognathia, Increased bone mineral density,... |
ORPHA:763 |
Auriculocondylar Syndrome 2 |
|
Micrognathia, Cleft palate, Feeding difficulties, Glossoptosis, Hearing impairment, Posteriorly r... |
OMIM:614669 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Atresia of the external auditory canal, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, C... |
ORPHA:2549 |
Schinzel-Giedion Syndrome |
|
Infantile sensorineural hearing impairment, Delayed eruption of teeth, Micrognathia, Abnormal tho... |
ORPHA:798 |
Fetal Akinesia Deformation Sequence 4 |
|
Retrognathia, 11 pairs of ribs, Prenatal death, High palate, Kyphosis, Wide nasal bridge, Microgn... |
OMIM:618393 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, High palate, Microtia, Abnormali... |
ORPHA:3216 |
Rhizomelic Syndrome |
|
Micrognathia, Hip dislocation, Wide anterior fontanel |
OMIM:268250 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Incisor macrodontia, Long philtrum, Narrow mouth, Thin vermilion border, Cleft palate, Low-set ea... |
OMIM:615502 |
Momo Syndrome |
|
Short sternum, Dental malocclusion, High palate, Long philtrum, Wide nasal bridge, Delayed erupti... |
OMIM:157980 |
Lateral Meningocele Syndrome |
|
Meningocele, Conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia,... |
ORPHA:2789 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Delayed closure of the anterior fontanelle, Wide anterior fontanel, Gingival hyperkeratosis, Micr... |
OMIM:225410 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Choanal stenosis, Mandibular prognathia, Thickened ribs, Wide nasal bridge, Optic atrophy, Cranio... |
OMIM:122860 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Advanced ossification of carpal bones, Thoracic hypoplasia, Micrognathia, Tooth agenesis, Ameloge... |
OMIM:618363 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Abnormality of the philtrum, High palate, Wide nasal bridge, Delayed eru... |
ORPHA:2863 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Pierre-Robin sequence, Wide anterior fontanel, Micrognathia, Respiratory distress, Short nose, An... |
OMIM:217980 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, High palate, Hypoplasia of the maxilla, Short palm, Prominent nasal brid... |
ORPHA:85279 |
Tetrasomy 5P |
|
Pulmonary arterial hypertension, High palate, Wide anterior fontanel, Wide nasal bridge, Long phi... |
ORPHA:3309 |
Dentin Dysplasia, Type I |
|
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... |
OMIM:125400 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Micrognathia, Epiphyseal stippling, Dysphagia, Unsteady gait, Feeding difficulties, Hearing impai... |
OMIM:214100 |
Amelogenesis Imperfecta |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... |
ORPHA:88661 |
Momo Syndrome |
|
Thick upper lip vermilion, Dental malocclusion, Short sternum, High palate, Long philtrum, Abnorm... |
ORPHA:2563 |
Brachydactyly, Type B1 |
|
Delayed cranial suture closure, Thoracolumbar scoliosis, Vertebral fusion, Wide anterior fontanel... |
OMIM:113000 |
Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... |
OMIM:602588 |
Opitz-Kaveggia Syndrome |
|
Delayed closure of the anterior fontanelle, Micrognathia, Camptodactyly, Broad hallux, Short neck... |
OMIM:305450 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Underdeveloped nasal alae, Dental malocclusion, Long philtrum, Macrodontia of permanent maxillary... |
OMIM:257850 |
Distal Monosomy 1Q |
|
Micrognathia, Depressed nasal bridge, Thin vermilion border, Smooth philtrum, Low-set ears |
ORPHA:36367 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Convex nasal ridge, Conductive hearing impairment, Optic atrophy, Hydrocephalus, Hypoplasia of th... |
ORPHA:93262 |
Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Non-midline cleft lip, Conductive hearing impairment, Optic atrophy, Mic... |
ORPHA:2710 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Macrotia, High palate, Flexion contracture, Wide nasal bridge, Decreased motor nerve conduction v... |
OMIM:218000 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Alveolar process hypoplasia, Genu valgum, Delayed eruption of teeth, Hypodontia, Abnormality of d... |
ORPHA:2972 |
Neonatal Adrenoleukodystrophy |
|
Sensorineural hearing impairment, Wide anterior fontanel, Wide nasal bridge, Abnormal palate morp... |
ORPHA:44 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Micrognathia, Abnormal vertebral morphology, Short nose, Thin upper lip vermilion, Anteverted nar... |
ORPHA:2015 |
Filippi Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Optic atrophy, Hypodontia, Microdontia, Abnormality... |
OMIM:272440 |
Anauxetic Dysplasia 3 |
|
Hip subluxation, Gastroesophageal reflux, Genu valgum, Retrognathia, Wide anterior fontanel, Olig... |
OMIM:618853 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Retrognathia, Hyperactivity, High palate, Sensorineural hearing impairment, Wide nasal bridge, Lo... |
OMIM:618342 |
Zaki Syndrome |
|
Wide nose, Sparse eyebrow, Sparse scalp hair, Sparse lateral eyebrow, High palate, Wide nasal bri... |
OMIM:619648 |
Eem Syndrome |
|
Sparse body hair, Sparse scalp hair, Finger syndactyly, Absent eyebrow, Carious teeth, Ectrodactyly |
ORPHA:1897 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Bilateral conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia, Ab... |
OMIM:128980 |
Meckel Syndrome 12 |
|
Wide nasal bridge, Cerebellar hypoplasia, Micrognathia, Arrhinencephaly, Cerebral hypoplasia, Age... |
OMIM:616258 |
Carey-Fineman-Ziter Syndrome 2 |
|
Underdeveloped nasal alae, Long philtrum, Abnormal nasal septum morphology, Abnormal skeletal mus... |
OMIM:619941 |
Osteogenesis Imperfecta, Type Xii |
|
Dentinogenesis imperfecta, High palate, Progressive hearing impairment, Hyperextensibility of the... |
OMIM:613849 |
Isolated Congenital Hypoglossia/Aglossia |
|
Nasogastric tube feeding in infancy, Gastrostomy tube feeding in infancy, Aspiration pneumonia, T... |
ORPHA:141152 |
Coffin-Lowry Syndrome |
|
Optic atrophy, Delayed eruption of teeth, Pectus excavatum, Everted lower lip vermilion, Thick na... |
ORPHA:192 |
Trichodentoosseous Syndrome |
|
Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth |
OMIM:190320 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Macrotia, Short philtrum, Hypoplasia of the maxilla, Bulbous nose, Cupped ear |
ORPHA:93945 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Horner syndrome, Kyphosis, Tongue atrophy, Delayed eruption of teeth, Microt... |
OMIM:141300 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Delayed cranial suture closure, Increased susceptibility to fractures, Wide anterior fontanel, Lo... |
ORPHA:357058 |
Cleidocranial Dysplasia 2 |
|
Genu valgum, Delayed eruption of primary teeth, Wide anterior fontanel, Delayed ossification of c... |
OMIM:620099 |
Mmep Syndrome |
|
Triphalangeal thumb, Split foot, Mandibular prognathia, Microcephaly |
ORPHA:3434 |
Clark-Baraitser syndrome |
|
Genu valgum, Kyphosis, Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated med... |
OMIM:300602 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Choanal stenosis, Flexion contracture, Wide anterior fontanel, Humeroradial synostosis, Long phil... |
OMIM:207410 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Conductive hearing impairment, Wide nasal bridge, Delayed eruption of teeth, Camptodactyly, Pectu... |
OMIM:235510 |
Usher Syndrome Type 3 |
|
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology |
ORPHA:231183 |
Dubowitz Syndrome |
|
Abnormal antihelix morphology, Delayed cranial suture closure, Respiratory insufficiency, Delayed... |
ORPHA:235 |
20P13 Microdeletion Syndrome |
|
Hypoplastic helices, Wide anterior fontanel, Thin upper lip vermilion, Tented upper lip vermilion... |
ORPHA:313781 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Mandibular prognathia, Wide mouth, Delayed eruption of teeth, Wide nasal... |
ORPHA:137834 |
Chromosome 22Q11.2 Duplication Syndrome |
|
High palate, Depressed nasal ridge, Micrognathia, Velopharyngeal insufficiency, Abnormal pinna mo... |
OMIM:608363 |
Short-Rib Thoracic Dysplasia 12 |
|
Holoprosencephaly, Short neck, Short palm, Posteriorly rotated ears, Short toe, Hydrocephalus, Bo... |
OMIM:269860 |
8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Abnormal antihelix morphology, Abnormal nostril morphology, Long philtru... |
ORPHA:178303 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Gingival overgrowth, Hearing impairment, Delayed eruption of teeth |
ORPHA:2222 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged... |
ORPHA:90646 |
Donnai-Barrow Syndrome |
|
Sensorineural hearing impairment, Wide anterior fontanel, Short nose, Intestinal malrotation, Dep... |
ORPHA:2143 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Knee flexion contracture, Mandibular prognathia, Sensorineural hearing impairment, Tapered finger... |
ORPHA:435938 |
Craniolenticulosutural Dysplasia |
|
Delayed closure of the anterior fontanelle, Wide nasal bridge, Delayed eruption of teeth, Bifid u... |
OMIM:607812 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Enamel hypoplasia, Cleft upper lip, Underdeveloped nasal alae, Microdontia, Hypodo... |
OMIM:129400 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Sensorineural hearing impairment, Craniofacial hyperostosis, Abnormal cort... |
ORPHA:2790 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, High palate, Prominent nose, Wide nasal bridge, Hydrocephalus, Depressed n... |
ORPHA:2180 |
Coffin-Siris Syndrome 2 |
|
Wide nose, Hyperactivity, High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Thic... |
OMIM:614607 |
Atkin-Flaitz Syndrome |
|
Genu valgum, Kyphosis, Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated med... |
OMIM:300431 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Stickler Syndrome Type 1 |
|
Sensorineural hearing impairment, Long philtrum, Short nose, Hypoplasia of the maxilla, Joint hyp... |
ORPHA:90653 |
Thanatophoric Dysplasia Type 1 |
|
Wide anterior fontanel, Kyphosis, Short greater sciatic notch, Hypoplastic ilia, Hydrocephalus, S... |
ORPHA:1860 |
Catel-Manzke Syndrome |
|
Camptodactyly of finger, Micrognathia, Oral synechia, Pectus excavatum, Chronic otitis media, Sco... |
ORPHA:1388 |
Lethal Kniest-Like Dysplasia |
|
Wide anterior fontanel, Abnormal cartilage matrix, Abnormal cartilage morphology, Hypoplastic ver... |
ORPHA:2347 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Flexion contracture, Hip dislocation, Thin vermilion border, Smooth philtrum, Hearing impairment,... |
ORPHA:481152 |
Intellectual Disability And Myopathy Syndrome |
|
Incisor macrodontia, Dental malocclusion, Achilles tendon contracture, Thin upper lip vermilion, ... |
OMIM:619719 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Wide mouth, Short nose, Delayed eruption of permanent teeth, Anteverted nares, Low-set ears, Exag... |
OMIM:618506 |
Acces Syndrome |
|
Retrognathia, Sparse scalp hair, Hip dysplasia, Hip dislocation, Protruding ear, Clinodactyly of ... |
OMIM:619959 |
Mohr Syndrome |
|
Lobulated tongue, Conductive hearing impairment, Bifid tongue, High palate, Tongue nodules, Micro... |
OMIM:252100 |
Maxillonasal Dysplasia |
|
Vertebral clefting, Abnormal nostril morphology, Mandibular prognathia, Patchy distortion of vert... |
ORPHA:1248 |
Craniodiaphyseal Dysplasia |
|
Conductive hearing impairment, Wide nasal bridge, Optic atrophy, Craniofacial hyperostosis, Depre... |
ORPHA:1513 |
Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Convex nasal ridge, Mandib... |
ORPHA:1540 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Optic atrophy, Death in infancy, Micrognathia, Arthrogryposis multiplex congenita, Depressed nasa... |
OMIM:618766 |
Skraban-Deardorff Syndrome |
|
Thick upper lip vermilion, Widely spaced teeth, Micrognathia, Hyperplasia of the maxilla, Recurre... |
OMIM:617616 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Wrist flexion contracture, Delayed closure of the anterior fontanelle, Delayed eruption of teeth,... |
OMIM:259600 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Flexion contracture, Micrognathia, Pectus excavatum, Smooth philtrum, Furrowed tongue, Lower limb... |
OMIM:300534 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Retrognathia, Abnormal number of incisors, Prominent nose, Patellar subluxation, Supernumerary ri... |
ORPHA:2958 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Wide nasal bridge, Microdontia, Additional crus of antihelix, Cupped ear, Thic... |
OMIM:620107 |
Saethre-Chotzen Syndrome |
|
Delayed cranial suture closure, Abnormal antihelix morphology, Convex nasal ridge, Conductive hea... |
ORPHA:794 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... |
ORPHA:83451 |
Oculodentodigital Dysplasia |
|
Conductive hearing impairment, Selective tooth agenesis, Microdontia, Taurodontia, Hip dislocatio... |
OMIM:164200 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Conductive hearing impairment, High palate, Sensorineural hearin... |
ORPHA:1307 |
Renpenning Syndrome |
|
Mandibular prognathia, Prominent nose, Round ear, Macrotia, Sensorineural hearing impairment, Sho... |
ORPHA:3242 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Dentinogenesis Imperfecta |
|
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Finger joint hypermobil... |
ORPHA:49042 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Conductive hearing impairment, Short 5th finger, Microtia, Micrognathia, Bifid n... |
OMIM:239800 |
Gapo Syndrome |
|
Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Eruption failure, Wid... |
OMIM:230740 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Obtuse angle of mandible, Vertebral arch anomaly, Thin bony cortex, High palate, Wide anterior fo... |
ORPHA:85184 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Short upper lip, Abnormality of muscle size, Mandibular prognathia, Narrow palate, Macrodontia of... |
ORPHA:364028 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed cranial suture closure, Conductive hearing impairment, Wide nasal bridge, Delayed eruptio... |
ORPHA:2780 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
High palate, Wide anterior fontanel, Long philtrum, Pyloric stenosis, Submucous cleft hard palate... |
ORPHA:457279 |
Opitz Gbbb Syndrome |
|
Umbilical hernia, Gastroesophageal reflux, Cleft upper lip, High palate, Wide anterior fontanel, ... |
OMIM:300000 |
Coffin-Siris Syndrome 3 |
|
Wide nose, Central diaphragmatic hernia, High palate, Long philtrum, Wide mouth, Macroglossia, Jo... |
OMIM:614608 |
Usher Syndrome Type 1 |
|
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology |
ORPHA:231169 |
Primary Ciliary Dyskinesia |
|
Conductive hearing impairment, Hydrocephalus, Nasal polyposis, Chronic sinusitis, Recurrent otiti... |
ORPHA:244 |
Nance-Horan Syndrome |
|
Supernumerary maxillary incisor, Macrotia, Screwdriver-shaped incisors, Prominent nose, Mulberry ... |
OMIM:302350 |
Cohen Syndrome |
|
Short metatarsal, Genu valgum, Convex nasal ridge, Macrodontia of permanent maxillary central inc... |
OMIM:216550 |
Braddock-Carey Syndrome 2 |
|
Retrognathia, Pierre-Robin sequence, Wide mouth, Cleft palate, Bulbous nose, Hearing impairment, ... |
OMIM:619981 |
Acrocallosal Syndrome |
|
Everted upper lip vermilion, Wide nasal bridge, Bifid uvula, Abnormal oral frenulum morphology, T... |
OMIM:200990 |
Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia of the semicircular canal, Sensorineural hearing impai... |
ORPHA:648 |
Holoprosencephaly 7 |
|
Wide nasal bridge, Lobar holoprosencephaly, Median cleft lip, Holoprosencephaly, Hypoplastic nasa... |
OMIM:610828 |
Seckel Syndrome 5 |
|
Retrognathia, Enamel hypoplasia, 11 pairs of ribs, Convex nasal ridge, High palate, Selective too... |
OMIM:613823 |
Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Cerebellar hypoplasia, Anencephaly, Bifid uvula, Camptodactyly, Dand... |
OMIM:614175 |
Ciliary Dyskinesia, Primary, 2 |
|
Absent inner and outer dynein arms, Nasal polyposis, Sinusitis, Otitis media, Hearing impairment |
OMIM:606763 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Sensorineural hearing impairment, Delayed eruption of teeth, Short phi... |
ORPHA:71267 |
Carpenter Syndrome 1 |
|
Conductive hearing impairment, Lateral displacement of patellae, Optic atrophy, Micrognathia, Cam... |
OMIM:201000 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Low-set ears, Optic atrophy, Short nose, Hypoplasia of the maxilla, Short distal phala... |
OMIM:614261 |
Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Recurrent bronchitis, Chronic otitis media, Chronic sinusitis |
OMIM:604571 |
2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Cerebral cortical atrophy, Tapered finger, Toe syndactyly, Micrognathia,... |
ORPHA:251014 |
Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... |
OMIM:183600 |
Nager Syndrome |
|
Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Wide mouth, Microtia, Abnormal nasal morp... |
ORPHA:245 |
Six2-Related Frontonasal Dysplasia |
|
Wide anterior fontanel, Absent/hypoplastic paranasal sinuses, Premature posterior fontanelle clos... |
ORPHA:488437 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Hearing abnormality, Prominent nose, Radioulnar synostosis, Pectus excavatum, Abnormal palate mor... |
ORPHA:3270 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hyperlordosis, Vomiting, Respiratory failure, Wide anterior fontanel, Inability to walk, Reye syn... |
ORPHA:26791 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Macrotia, Joint dislocation, Wide mouth, Widely spaced teeth, Micrognathia, Respiratory distress,... |
OMIM:300934 |
Arthrogryposis, Distal, Type 2E |
|
Distal arthrogryposis, Foot joint contracture, Joint contracture of the hand, Micrognathia, Absen... |
OMIM:121070 |
Non-Distal Trisomy 10Q |
|
Convex nasal ridge, High palate, Micrognathia, Short nose, Everted lower lip vermilion, Pectus ex... |
ORPHA:1695 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Micrognathia, Cleft palate, Scapular winging, Short palm, Malar flattening, Bulbous nose, Short f... |
OMIM:170390 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Facial hypotonia, Hyperplasia of the maxilla |
OMIM:618383 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Hypoplasia of the maxilla, Macrotia, Mandibular prognathia, Anal atresia |
ORPHA:93950 |
Cerebrocostomandibular Syndrome |
|
Meningocele, Conductive hearing impairment, Webbed neck, Myelomeningocele, Kyphosis, Death in inf... |
ORPHA:1393 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Wide nasal bridge, Optic atrophy, Facial palsy, Broad alveolar ridges, Abn... |
OMIM:218400 |
Acrodysostosis |
|
Short toe, Mandibular prognathia, Depressed nasal ridge, Wide nasal bridge, Delayed eruption of t... |
ORPHA:950 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperactivity, Flexion contracture, High palate, Deep philtrum, Hyperextensibility of the finger ... |
OMIM:309520 |
Aminopterin Syndrome Sine Aminopterin |
|
Thoracic scoliosis, High palate, Joint contracture of the hand, Frontal upsweep of hair, Microgna... |
OMIM:600325 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Micrognathia, Increased bone mineral density, Elbow dislocation, Hypopla... |
ORPHA:628 |
Acrofrontofacionasal Dysostosis 2 |
|
Wide nose, High palate, Wide anterior fontanel, Low-set ears, Overfolded helix, Posteriorly rotat... |
OMIM:239710 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Delayed cranial suture closure, Wide anterior fontanel, Kyphosis, Ectopic anus, Coronal craniosyn... |
ORPHA:85199 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Incisor macrodontia, Underdeveloped nasal alae, High palate, Wide nasal bridge, Thin upper lip ve... |
ORPHA:438216 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Sensorineural hearing impairment, Poor suck, Wide anterior fontanel, High palate, Death in infanc... |
OMIM:614866 |
Osteolysis Syndrome, Recessive |
|
Knee flexion contracture, Elbow flexion contracture, Hypoplasia of the maxilla, Metacarpal osteol... |
OMIM:259610 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Central apnea, Gastroesophageal reflux, Pulmonary arterial hypertension, Respiratory failure, Wid... |
OMIM:616482 |
Neurofaciodigitorenal Syndrome |
|
Abnormality of the philtrum, Mandibular prognathia, Abnormality of the elbow, Hypoplasia of the p... |
ORPHA:2673 |
Aicardi Syndrome |
|
Bifid ribs, Cleft upper lip, Small hand, Optic atrophy, Block vertebrae, Malabsorption, Supernume... |
ORPHA:50 |
Monosomy 5P |
|
High palate, Finger syndactyly, Wide nasal bridge, Small hand, Microretrognathia, Short neck, Sco... |
ORPHA:281 |
Ciliary Dyskinesia, Primary, 35 |
|
Chronic rhinitis, Nasal polyposis, Chronic otitis media, Chronic sinusitis |
OMIM:617092 |
Campomelic Dysplasia |
|
Irregular dentition, Conductive hearing impairment, Spinal dysraphism, Micrognathia, Hip dislocat... |
OMIM:114290 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Convex nasal ridge, Short 5th metacarpal, Short middle phalanx of the 5th finger, Osteoporosis of... |
OMIM:156510 |
Liang-Wang Syndrome |
|
Macrodontia of permanent maxillary central incisor, Wide mouth, Wide nasal bridge, Macroglossia, ... |
OMIM:618729 |
Acrocraniofacial Dysostosis |
|
Wide nose, Conductive hearing impairment, Sensorineural hearing impairment, Short first metatarsa... |
OMIM:201050 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Conductive hearing impairment, Cleft soft palate, Micrognathia, Camptodactyly, Cleft palate, Ging... |
OMIM:616331 |
Trisomy 18 |
|
Camptodactyly of finger, Narrow pelvis bone, Holoprosencephaly, Postaxial hand polydactyly, Cleft... |
ORPHA:3380 |
Frank-Ter Haar Syndrome |
|
Delayed cranial suture closure, Micrognathia, Camptodactyly, Gingival overgrowth, Anterior concav... |
OMIM:249420 |
Mcdonough Syndrome |
|
Underdeveloped nasal alae, Dental malocclusion, Aplasia/Hypoplasia of the abdominal wall musculat... |
ORPHA:2471 |
Treacher-Collins Syndrome |
|
Conductive hearing impairment, Wide nasal bridge, Micrognathia, Tooth agenesis, Abnormality of bo... |
ORPHA:861 |
Pde4D Haploinsufficiency Syndrome |
|
Micrognathia, Prominent nasal tip, Caudal interpedicular narrowing, Hearing impairment, Posterior... |
ORPHA:439822 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Wide anterior fontanel, Macroglossia, Depressed nasal bridge, Feeding difficulties, Umbilical hernia |
OMIM:275100 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Genu valgum, Widely-spaced incisors, Irregular vertebral endplates, Short femoral neck, Oligodont... |
OMIM:601668 |
Hartsfield Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Lobar holoprosencephaly, Depressed nasa... |
ORPHA:2117 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Reduced bone mineral density, Conductive hearing impairment, Missing rib... |
ORPHA:1488 |
Craniosynostosis And Dental Anomalies |
|
Stapes ankylosis, Convex nasal ridge, Conductive hearing impairment, Delayed eruption of teeth, P... |
OMIM:614188 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Convex nasal ridge, Abnormal shoulder morphology, Brachydactyly |
ORPHA:1277 |
Distal Monosomy 13Q |
|
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Anence... |
ORPHA:1590 |
Keipert Syndrome |
|
Sensorineural hearing impairment, Hypoplasia of the maxilla, Depressed nasal bridge, Short hallux... |
ORPHA:2662 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Ciliary Dyskinesia, Primary, 30 |
|
Nasal polyposis, Chronic sinusitis, Recurrent otitis media, Nasal congestion, Absent outer dynein... |
OMIM:616037 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Wide nasal bridge, Narrow chest, Micrognathia, Short philtrum, Downturned corners of ... |
ORPHA:93267 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed closure of the anterior fontanelle, Macrotia, Kyphosis, Widely spaced teeth, Thick lower ... |
OMIM:619797 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
High palate, Long philtrum, Sensorineural hearing impairment, Delayed eruption of teeth, Camptoda... |
OMIM:616354 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Short philtrum, Tooth agenesis, Hearing impairm... |
ORPHA:2325 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Atelosteogenesis, Type Iii |
|
Micrognathia, Radial bowing, Cervical kyphosis, Flat acetabular roof, Tombstone-shaped proximal p... |
OMIM:108721 |
Pyle Disease |
|
Thin bony cortex, Genu valgum, Mandibular prognathia, Hypoplastic frontal sinuses, Delayed erupti... |
OMIM:265900 |
Intestinal Dysmotility Syndrome |
|
Decreased intestinal transit time, High palate, Diarrhea, Projectile vomiting, Abdominal distenti... |
OMIM:620045 |
Oculoskeletodental Syndrome |
|
Retrognathia, Enamel hypoplasia, Hyperlordosis, Conductive hearing impairment, Sensorineural hear... |
ORPHA:557003 |
Immunodeficiency 13 |
|
Nasal polyposis, Recurrent upper respiratory tract infections, Recurrent sinusitis, Recurrent oti... |
OMIM:615518 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Delayed cranial suture closure, Bifid tongue, Wide nasal bridge, Micrognathia, Dislocated radial ... |
OMIM:268310 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta |
OMIM:104530 |
Cornelia De Lange Syndrome 2 |
|
High palate, Limited elbow movement, Small hand, Micrognathia, Synophrys, Clinodactyly, Long eyel... |
OMIM:300590 |
Temple-Baraitser Syndrome |
|
Wide nose, Macrotia, High palate, Everted upper lip vermilion, Long philtrum, Delayed eruption of... |
ORPHA:420561 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Polydactyly, Short 5th finger, Micrognathia, Clinodactyly of the 5th finger, Syndactyly, Small pl... |
ORPHA:397590 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Wide anterior fontanel, Apnea, Depressed nasal bridge, Large fontanelles, Anteverted nares, Decre... |
OMIM:614883 |
Fraser Syndrome 1 |
|
Conductive hearing impairment, Midline nasal groove, Wide nasal bridge, Abnormality of the anus, ... |
OMIM:219000 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Sensorineural hearing impairment, Gingival fibromatosis, Gingival overgrowth, Delayed eruption of... |
ORPHA:2027 |
Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Micrognathia, Spina bifida occulta, Abnormal rib morphology, Cleft pal... |
ORPHA:1452 |
Lambotte Syndrome |
|
Retrognathia, Convex nasal ridge, Macrotia, Semilobar holoprosencephaly, Narrow mouth, Atresia of... |
OMIM:245552 |
Aarskog-Scott Syndrome |
|
Cleft upper lip, Short 5th finger, Short foot, Wide nasal bridge, Hyperextensibility of the finge... |
OMIM:305400 |
Frontorhiny |
|
Camptodactyly of finger, Bifid tongue, Midline nasal groove, Hypoplastic frontal sinuses, Cranium... |
ORPHA:391474 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Camptodactyly of finger, Gastroesophageal reflux, Death in infancy, Micrognathia, Short nose, Rec... |
ORPHA:1495 |
Ciliary Dyskinesia, Primary, 1 |
|
Conductive hearing impairment, Recurrent bronchitis, Communicating hydrocephalus, Nasal polyposis... |
OMIM:244400 |
Ciliary Dyskinesia, Primary, 15 |
|
Nasal polyposis, Chronic sinusitis, Recurrent otitis media, Abnormal axonemal organization of res... |
OMIM:613808 |
Oligodontia |
|
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... |
ORPHA:99798 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse body hair, Alopecia, Macrotia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Abnor... |
ORPHA:2850 |
Acro-Renal-Mandibular Syndrome |
|
Micrognathia, Hip dislocation, Butterfly vertebrae, Short neck, Rudimentary to absent tibiae, Hyp... |
ORPHA:958 |
X-Linked Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Webbed neck, Branchial anomaly, Sensorineural hearing impairment, ... |
ORPHA:1131 |
Congenital Myopathy 19 |
|
Bell-shaped thorax, High palate, Depressed nasal ridge, Micrognathia, Facial hypotonia, Skeletal ... |
OMIM:618578 |
Ritscher-Schinzel Syndrome 3 |
|
Wide anterior fontanel, Death in infancy, Micrognathia, Poorly ossified vertebrae, Epiphyseal sti... |
OMIM:619135 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Conductive hearing impairment, Reduced proximal interphalangeal joint space, Finger syndactyly, A... |
ORPHA:3246 |
Marshall Syndrome |
|
Thick upper lip vermilion, Pierre-Robin sequence, Long philtrum, Macrodontia of permanent maxilla... |
OMIM:154780 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Low-set ears, Notched primary central incisor |
OMIM:620062 |
Kagami-Ogata Syndrome |
|
Retrognathia, Bell-shaped thorax, Flexion contracture, Diastasis recti, Long philtrum, Microtia, ... |
OMIM:608149 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Small hand, Micrognathia, Clinodactyly of the 5th finger, Thick eyebrow, Bilateral single transve... |
ORPHA:444002 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Underdeveloped nasal alae, Webbed neck, Hydranencephaly, Microcephaly, Short distal phalanx of fi... |
OMIM:601355 |
Phenobarbital Embryopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of fingers, Microcephaly, Abnormal nasal base norpholog... |
ORPHA:1919 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Knee flexion contracture, Flexion contracture, Prominent nose, Long philtrum, Joint contracture o... |
OMIM:214150 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Mandibular prognathia, Narrow palate, Prominent nose, Wide nasal bridge, Brachydactyly |
OMIM:617169 |
Johnson Neuroectodermal Syndrome |
|
Atresia of the external auditory canal, Conductive hearing impairment, Microtia, Facial palsy, Ev... |
ORPHA:2316 |
Alg9-Cdg |
|
Delayed cranial suture closure, Convex nasal ridge, Diarrhea, Micrognathia, Bifid uvula, Large fl... |
ORPHA:79328 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Wide anterior fontanel, Natal tooth, Microtia, Absent nasal bridge, Micrognathia, Anal atresia, E... |
OMIM:617925 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Patellar dislocation, Wide nasal bridge, Micrognathia, Limited elbow extension, Cleft palate, Kne... |
OMIM:614078 |
Crouzon Syndrome |
|
Sagittal craniosynostosis, Mandibular prognathia, High palate, Conductive hearing impairment, Opt... |
OMIM:123500 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Micrognathia, Agenesis of corpus callosum, Hy... |
OMIM:225790 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Retrognathia, High palate, Kyphosis, Paucity of anterior horn motor neurons, Micrognathia, Facial... |
OMIM:611890 |
Phocomelia, Schinzel Type |
|
Meningocele, Foot oligodactyly, Humeroradial synostosis, High, narrow palate, Hypoplasia of the r... |
ORPHA:2879 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Wide nasal bridge, Toe syndactyly, Micrognathia, Flared iliac wing, Apla... |
OMIM:609945 |
Lowry-Maclean Syndrome |
|
Convex nasal ridge, Diaphragmatic eventration, Delayed eruption of teeth, Cleft palate, Craniosyn... |
OMIM:600252 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Joint contracture of the hand, 2-3 finger syndactyly, 2-4 fing... |
OMIM:225280 |
Osteoglosphonic Dysplasia |
|
Abnormal bone ossification, Rhizomelia, Micrognathia, Protruding ear, Multiple unerupted teeth, T... |
ORPHA:2645 |
Trisomy 8P |
|
Retrognathia, Metopic suture patent to nasal root, Conductive hearing impairment, Multiple joint ... |
ORPHA:264450 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Delayed cranial suture closure, Hearing abnormality, Hyperlordosis, Mandibular prognathia, Cone-s... |
ORPHA:2511 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Flexion contracture, Wide nasal bridge, Microdontia, Posteriorly rotated ears, Underdeveloped nas... |
OMIM:619293 |
Raine Syndrome |
|
Thoracic hypoplasia, Micrognathia, Microdontia, Increased bone mineral density, Pectus excavatum,... |
OMIM:259775 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Underdeveloped nasal alae, Conductive hearing impairment, High palate, Wide nasal bridge, Microti... |
OMIM:248910 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, High palate, Kyphosis, Pectus excavatum, Hypoplasia of the maxilla, Scolio... |
OMIM:300676 |
Trichorhinophalangeal Syndrome, Type I |
|
Ivory epiphyses of the distal phalanges of the hand, Delayed eruption of teeth, Micrognathia, Mic... |
OMIM:190350 |
Codas Syndrome |
|
Sensorineural hearing impairment, Short metacarpal, Delayed eruption of teeth, Crumpled ear, Abno... |
ORPHA:1458 |
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome |
|
Hearing abnormality, Pierre-Robin sequence, Micrognathia, Downturned corners of mouth, Narrow mou... |
ORPHA:1150 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormality of the philtrum, Microretrognathia, Abnormal clavicle morphology, Abnormal rib morpho... |
ORPHA:276422 |
Johnson Neuroectodermal Syndrome |
|
Retrognathia, Choanal stenosis, Conductive hearing impairment, Microtia, Facial palsy, Anosmia, C... |
OMIM:147770 |
Ck Syndrome |
|
Retrognathia, Hyperlordosis, Hyperactivity, High palate, Kyphosis, Micrognathia, Dental crowding,... |
OMIM:300831 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Genu valgum, Sensorineural hearing impairment, Short femoral neck, Disharmonious carpal bone, Lon... |
OMIM:608154 |
Three M Syndrome 2 |
|
Dental malocclusion, Hyperlordosis, Short thorax, High palate, Long philtrum, Short 5th finger, D... |
OMIM:612921 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Talon cusp, Short metatarsal, Deep philtrum, Short metacarpal, Optic atrophy, Microdontia, Radiou... |
OMIM:605282 |
Chung-Jansen Syndrome |
|
Macrotia, High palate, Long philtrum, Micrognathia, Short philtrum, Short nose, Large earlobe, Jo... |
OMIM:617991 |
Transaldolase Deficiency |
|
Wide anterior fontanel, Poor suck, Wide mouth, Deep philtrum, Asthma, Short philtrum, Depressed n... |
OMIM:606003 |
Ciliary Dyskinesia, Primary, 19 |
|
Rhinitis, Absent inner and outer dynein arms, Nasal polyposis, Recurrent sinusitis, Recurrent oti... |
OMIM:614935 |
Smith-Kingsmore Syndrome |
|
Wide anterior fontanel, Wide mouth, Long philtrum, Short nose, Thin upper lip vermilion, Depresse... |
OMIM:616638 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal antihelix morphology, Mandibular prognathia, Conductive hearing impairment, Kyphosis, Ap... |
ORPHA:3082 |
Mpdu1-Cdg |
|
Wide anterior fontanel, Prominent frontal sinuses, Absence of acoustic reflex, Thin vermilion bor... |
ORPHA:79323 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Wide anterior fontanel, Long philtrum, Micrognathia, Feeding difficulties in infancy, Thin upper ... |
OMIM:618548 |
Hemifacial Microsomia With Radial Defects |
|
Non-midline cleft lip, Conductive hearing impairment, Microtia, Orofacial cleft, Cleft palate, Sh... |
OMIM:141400 |
Turnpenny-Fry Syndrome |
|
Conductive hearing impairment, Feeding difficulties in infancy, Chronic constipation, Prominent n... |
OMIM:618371 |
Shprintzen-Goldberg Syndrome |
|
Camptodactyly of finger, Conductive hearing impairment, Micrognathia, Elbow dislocation, Pectus e... |
ORPHA:2462 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Abnormality of the neck, Upper limb phocomelia, Syndactyly, Stillbirth, Cleft palate... |
ORPHA:294975 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Micrognathia, Arthrogryposis multiplex congenita, Low-set ears, Cleft palate |
OMIM:616570 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Underdeveloped nasal alae, Abnormal oral cavity morphology, Wide nasal bridge, Micrognathia, Hydr... |
ORPHA:1516 |
Fibrochondrogenesis |
|
Camptodactyly of finger, Hearing abnormality, Respiratory insufficiency, Wide anterior fontanel, ... |
ORPHA:2021 |
Ciliary Dyskinesia, Primary, 5 |
|
Chronic rhinitis, Nasal polyposis, Recurrent sinusitis, Recurrent otitis media |
OMIM:608647 |
Distal Xq28 Microduplication Syndrome |
|
High palate, Microtia, Short lingual frenulum, Thick lower lip vermilion, Absent antihelix, Hypop... |
ORPHA:293939 |
Pai Syndrome |
|
Encephalocele, Bifid uvula, Nasal polyposis, Abnormal oral frenulum morphology, Median cleft lip,... |
ORPHA:1993 |
Donnai-Barrow Syndrome |
|
Sensorineural hearing impairment, Wide anterior fontanel, Short nose, Intestinal malrotation, Dep... |
OMIM:222448 |
Ciliary Dyskinesia, Primary, 22 |
|
Rhinitis, Absent inner and outer dynein arms, Nasal polyposis, Recurrent sinusitis, Recurrent oti... |
OMIM:615444 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Convex nasal ridge, High palate, Micrognathia, Prominence of the premaxilla, Joint hypermobility,... |
OMIM:614437 |
Saul-Wilson Syndrome |
|
Irregular vertebral endplates, Sensorineural hearing impairment, Convex nasal ridge, Wide anterio... |
OMIM:618150 |
Seckel Syndrome 1 |
|
11 pairs of ribs, Enamel hypoplasia, Dental malocclusion, Convex nasal ridge, High palate, Promin... |
OMIM:210600 |
Cofs Syndrome |
|
Camptodactyly of finger, Sensorineural hearing impairment, Wide nasal bridge, Death in infancy, A... |
ORPHA:1466 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Macrotia, High palate, Micrognathia, Weakness of facial musculature, Scoliosis, Type 2 muscle fib... |
OMIM:608930 |
Regional Odontodysplasia |
|
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... |
ORPHA:83450 |
Martsolf Syndrome 1 |
|
Finger joint hypermobility, Micrognathia, Pectus excavatum, Short palm, Posteriorly rotated ears,... |
OMIM:212720 |
Perching Syndrome |
|
High palate, Camptodactyly, Respiratory distress, Depressed nasal bridge, Scoliosis, Dysphagia, F... |
OMIM:617055 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Bilateral conductive hearing impairment, Natal tooth, Volvulus, Micrognathia, Short nose, Depress... |
OMIM:617802 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Underdeveloped nasal alae, High palate, Delayed eruption of teeth, Abnormality of dental morpholo... |
ORPHA:2025 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Underdeveloped nasal alae, Depressed nasal ridge, Wide nasal bridge, Deep philtrum, Kyphosis, Mic... |
ORPHA:77300 |
Lambert Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Malar flattening, Branchial anomaly |
ORPHA:1296 |
Ramon Syndrome |
|
Conductive hearing impairment, Narrow palate, Sensorineural hearing impairment, Delayed eruption ... |
ORPHA:3019 |
Hartsfield Syndrome |
|
Wide nose, Hypoplasia of the frontal bone, Agenesis of corpus callosum, Semilobar holoprosencepha... |
OMIM:615465 |
Trisomy 13 |
|
Abnormal antihelix morphology, Sensorineural hearing impairment, Kyphosis, Abnormality of the mid... |
ORPHA:3378 |
Cleft Velum |
|
Conductive hearing impairment, Cleft soft palate, Velopharyngeal insufficiency, Recurrent otitis ... |
ORPHA:99772 |
Rubinstein-Taybi Syndrome 1 |
|
Delayed cranial suture closure, Convex nasal ridge, Flexion contracture, Patellar dislocation, Wi... |
OMIM:180849 |
Holoprosencephaly 9 |
|
Dental malocclusion, Agenesis of incisor, Cleft upper lip, Single naris, Macrotia, Hypoplasia of ... |
OMIM:610829 |
Cerebellar-Facial-Dental Syndrome |
|
Dental malocclusion, Foot joint contracture, Long philtrum, Macrodontia of permanent maxillary ce... |
ORPHA:444072 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Mesoaxial foot polydactyly, Bilateral sensorineural hearing impairment, 1-2 toe syndactyly, 4-5 t... |
ORPHA:488232 |
Orofaciodigital Syndrome Type 2 |
|
Short tibia, Conductive hearing impairment, Bifid tongue, Wide nasal bridge, Micrognathia, Taurod... |
ORPHA:2751 |
Desbuquois Dysplasia 1 |
|
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... |
OMIM:251450 |
Microhydranencephaly |
|
Hypoplasia of the brainstem, Macrotia, Cerebellar hypoplasia, Agenesis of corpus callosum, Hydran... |
OMIM:605013 |
Adenylosuccinate Lyase Deficiency |
|
Long philtrum, Prominent metopic ridge, Short nose, Thin upper lip vermilion, Anteverted nares, S... |
ORPHA:46 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Hyperactivity, Deep philtrum, Wide mouth, Wide nasal bridge, Micrognathia, Prominent nasal tip, K... |
OMIM:615834 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ectopic anus, Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius, Cleft palate |
ORPHA:2476 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Retrognathia, Underdeveloped antitragus, Prominent nose, Cleft soft palate, Thickened helices, Pr... |
ORPHA:293725 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Macrotia, Webbed neck, Abnormality of the elbow, Aplasia/Hypoplasia of the eyebrow, Sparse scalp ... |
ORPHA:2701 |
Acrocallosal Syndrome |
|
Sensorineural hearing impairment, Wide anterior fontanel |
ORPHA:36 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
High palate, Long philtrum, Abnormal sacral segmentation, Micrognathia, Joint hypermobility, Thin... |
ORPHA:480907 |
Acrocephalopolydactyly |
|
Depressed nasal ridge, Microtia, Short nose, Premature closure of fontanelles, Genu recurvatum, P... |
ORPHA:221054 |
Baller-Gerold Syndrome |
|
Conductive hearing impairment, Micrognathia, Bifid uvula, Spina bifida occulta, Large fontanelles... |
OMIM:218600 |
Split-Hand/Foot Malformation 4 |
|
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the... |
OMIM:605289 |
Cohen Syndrome |
|
Optic atrophy, Micrognathia, Pectus excavatum, Tooth agenesis, Gingival overgrowth, Genu valgum, ... |
ORPHA:193 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Vomiting, Wide anterior fontanel, Respiratory distress, Depressed nasal bridge, Nausea, Abnormal ... |
OMIM:231680 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Platyspondyly, Wide anterior fontanel, Wormian bones, Atresia of the external auditory canal |
OMIM:601356 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Toe syndactyly, Abnor... |
ORPHA:1113 |
Pfeiffer Syndrome |
|
Choanal stenosis, Mandibular prognathia, Short middle phalanx of toe, Finger syndactyly, Humerora... |
OMIM:101600 |
14Q11.2 Microdeletion Syndrome |
|
High palate, Long philtrum, Deep philtrum, Micrognathia, Short nose, Everted lower lip vermilion,... |
ORPHA:261120 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Retrognathia, Hyperactivity, Wide nasal bridge, Kyphosis, Joint contracture of the hand, Microgna... |
ORPHA:352490 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Retrognathia, Poor suck, Episodic tachypnea, Micrognathia, Hydrocephalus, Apneic episodes in infa... |
ORPHA:163961 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed cranial suture closure, Convex nasal ridge, Aplasia of the nasal bone, Delayed eruption o... |
OMIM:601812 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Long philtrum, Microretrognathia, Hypoplasia of the maxilla, Anteverted nares, Abnormal pinna mor... |
ORPHA:228396 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Macrotia, Wide mouth, Optic atrophy, Decreased motor nerve conduction velocity, Micrognathia, Sho... |
OMIM:615419 |
Mesomelia-Synostoses Syndrome |
|
Convex nasal ridge, Micrognathia, Abnormality of the wrist, Metatarsal synostosis, Abnormality of... |
ORPHA:2496 |
Emanuel Syndrome |
|
Multiple joint contractures, Ectopic anus, Delayed eruption of teeth, Micrognathia, Bifid uvula, ... |
ORPHA:96170 |
Fibular Hemimelia |
|
Hip subluxation, Short tibia, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Narrow maxilla, Joint dislocation, Hyperextensibility of the finger joints, Lop ear, Recurrent si... |
OMIM:130000 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Conical tooth, Cleft upper lip, Conductive hearing impairment, Wide nasal bridge, Widely spaced t... |
OMIM:106260 |
Braddock-Carey Syndrome 1 |
|
Enamel hypoplasia, Hyperlordosis, Macrotia, Pierre-Robin sequence, Small hand, Wide nasal bridge,... |
OMIM:619980 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Cleft palate, Hearing impairment, Genu valgum, Flexion contracture of ... |
ORPHA:2712 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Optic atrophy, Delayed eruption of teeth, Epiphyseal stippling, Hypoplastic vertebral bodies, Dis... |
OMIM:101800 |
Aredyld Syndrome |
|
Mandibular prognathia, Abnormal tragus morphology, Abnormal nasal morphology, Advanced eruption o... |
ORPHA:1133 |
Meier-Gorlin Syndrome 1 |
|
Flexion contracture, Micrognathia, Microdontia, Osteochondritis dissecans, Camptodactyly, Elbow d... |
OMIM:224690 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Long philtrum, Microtia, Micrognathia, Vertebral segmentation de... |
ORPHA:1988 |
Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Sensorineural hearing impairment, Cutaneous finger syndactyly, Toe syndactyly... |
DECIPHER:46 |
Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... |
ORPHA:1892 |
Mend Syndrome |
|
Hyperactivity, High palate, Wide anterior fontanel, Kyphosis, Abnormal nasal bridge morphology, A... |
ORPHA:401973 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Long philtrum, Microtia, Micrognathia, Hydrocephalus, Radioulnar synostosis, Short nose, Short co... |
ORPHA:171839 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Bifid tongue, Wide nasal bridge, Delayed eruption of teeth, Short lingual frenulum, Micrognathia,... |
OMIM:180700 |
Deafness, Conductive, With Malformed External Ear |
|
Low-set ears, Conductive hearing impairment, Abnormal pinna morphology, Abnormality of the middle... |
OMIM:221300 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Pulmonary arterial hypertension, Wide anterior fontanel, Death in infancy, Lethargy, Death in chi... |
OMIM:619064 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Atresia of the external auditory canal, Conductive hearing impairment, High palate, Rhizomelia, M... |
OMIM:602471 |
Greenberg Dysplasia |
|
Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Micrognathia, Tetraphocomelia... |
OMIM:215140 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Osteolysis, Broad nasal tip, Short distal phalanx of finger, Abnormali... |
ORPHA:2776 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Delayed cranial suture closure, Flexion contracture, Wide nasal bridge, Inability to walk, Chroni... |
OMIM:619383 |
Lipoid Proteinosis |
|
High palate, Tongue nodules, Thick lower lip vermilion, Nasal polyposis, Abnormal oral mucosa mor... |
ORPHA:530 |
Sulfite Oxidase Deficiency, Isolated |
|
Macrotia, Death in infancy, Agitation, Delayed eruption of teeth |
OMIM:272300 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Convex nasal ridge, Kyphosis, Micrognathia, Abnormality of dental morphology, Mala... |
ORPHA:2522 |
Andersen-Tawil Syndrome |
|
High palate, Small hand, Wide nasal bridge, Micrognathia, Oligodontia, Joint laxity, Hypoplasia o... |
ORPHA:37553 |
Van Den Ende-Gupta Syndrome |
|
Convex nasal ridge, Micrognathia, Elbow flexion contracture, Pectus excavatum, Everted lower lip ... |
OMIM:600920 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Long philtrum, Cleft soft palate, Wide nasal bridge, Micrognathia, Camptodactyly, Short nose, Abs... |
OMIM:618529 |
Coffin-Siris Syndrome 6 |
|
Retrognathia, Conductive hearing impairment, Deep philtrum, Diaphragmatic eventration, Micrognath... |
OMIM:617808 |
Branchiootorenal Syndrome 1 |
|
Conductive hearing impairment, Sensorineural hearing impairment, High palate, Incomplete partitio... |
OMIM:113650 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Wide nasal bridge, Split hand, Microcephaly, Cerebral atrophy, Low-set ears, Neonatal death |
OMIM:610127 |
Branchiogenic Deafness Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os... |
ORPHA:50815 |
Atelosteogenesis, Type I |
|
Thoracic hypoplasia, Vertebral hypoplasia, Micrognathia, Elbow dislocation, Laryngeal stenosis, S... |
OMIM:108720 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Retrognathia, Knee flexion contracture, Distal arthrogryposis, Flexion contracture, High palate, ... |
OMIM:617468 |
Otofaciocervical Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, High palate, Macrotia, Down-sloping... |
ORPHA:2792 |
Mucopolysaccharidosis, Type Vi |
|
Hypoplastic acetabulae, Delayed eruption of teeth, Flared iliac wing, Anterior wedging of L2, Hir... |
OMIM:253200 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Wide nose, Knee flexion contracture, Macrotia, Widely spaced teeth, Micrognathia, Microdontia, Ca... |
OMIM:619694 |
Iniencephaly |
|
Hyperlordosis, Spinal dysraphism, Encephalocele, Myelomeningocele, Mandibular aplasia, Spina bifi... |
ORPHA:63259 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Feeding difficulties, Wide anterior fontanel, Death in infancy |
OMIM:618240 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Absent nares, Encephalocele, Hypoplasia of the premaxilla, Micrognathia, Hydrocephalus, Anal atre... |
ORPHA:2166 |
6Q16 Microdeletion Syndrome |
|
Retrognathia, Microtia, Micrognathia, Abnormal thorax morphology, Depressed nasal bridge, Abnorma... |
ORPHA:171829 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Aplasia of the inner ear, Widely spaced teeth, Micrognathia, Microdontia, Peg-shap... |
OMIM:610706 |
Oculoauriculofrontonasal Syndrome |
|
Underdeveloped nasal alae, Wide nose, Conductive hearing impairment, Encephalocele, Microtia, Mic... |
ORPHA:398156 |
Diaphanospondylodysostosis |
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Respiratory insufficiency, Absent in utero ossification of vertebral bodies, Depressed nasal ridg... |
OMIM:608022 |
Multiple Synostoses Syndrome 1 |
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2-3 toe syndactyly, Stapes ankylosis, Conductive hearing impairment, Bilateral conductive hearing... |
OMIM:186500 |
Odontochondrodysplasia |
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Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth, Death in infancy, Micromelia,... |
ORPHA:166272 |
Synpolydactyly 1 |
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Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... |
OMIM:186000 |
Odontochondrodysplasia 1 |
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Short phalanx of finger, Delayed eruption of teeth, Flared iliac wing, Genu recurvatum, Dentinoge... |
OMIM:184260 |
Vitamin D-Dependent Rickets, Type 2A |
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Enamel hypoplasia, Thin bony cortex, Delayed epiphyseal ossification, Recurrent fractures, Wide n... |
OMIM:277440 |
Craniosynostosis 3 |
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Left unicoronal synostosis, Dental malocclusion, Sagittal craniosynostosis, Hallux valgus, Brachy... |
OMIM:615314 |
Restrictive Dermopathy 1 |
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Convex nasal ridge, Flexion contracture, Micrognathia, Ankylosis, Large fontanelles, Choanal atre... |
OMIM:275210 |
Auriculocondylar Syndrome |
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Micrognathia, Bifid uvula, Question mark ear, Cleft palate, Feeding difficulties, Glossoptosis, H... |
ORPHA:137888 |
Achondrogenesis Type 1A |
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Recurrent fractures, Abnormal enchondral ossification, Long philtrum, Micrognathia, Abdominal dis... |
ORPHA:93299 |
Yunis-Varon Syndrome |
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Hypoplasia of the frontal lobes, Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the dist... |
ORPHA:3472 |
Metatropic Dysplasia |
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Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Coarse metaphy... |
ORPHA:2635 |
Dysostosis, Stanescu Type |
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Hyperlordosis, Convex nasal ridge, Kyphosis, Massively thickened long bone cortices, Abnormal nas... |
ORPHA:1798 |
Incisors, Shovel-Shaped |
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Shovel-shaped maxillary central incisors |
OMIM:147400 |
Aicardi Syndrome |
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Bifid ribs, Cleft upper lip, Optic atrophy, Block vertebrae, Spina bifida, Supernumerary ribs, Mi... |
OMIM:304050 |
Fontaine Progeroid Syndrome |
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Respiratory insufficiency, Conductive hearing impairment, Convex nasal ridge, Pneumothorax, Recur... |
OMIM:612289 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Feeding difficulties, Wide anterior fontanel, Depressed nasal bridge |
OMIM:617241 |
Growth Hormone Insensitivity Syndrome |
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Everted lower lip vermilion, Hearing impairment, Delayed eruption of teeth |
ORPHA:181393 |
Hall-Riggs Mental Retardation Syndrome |
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Enamel hypoplasia, Irregular vertebral endplates, Prominent nose, Kyphosis, Thick lower lip vermi... |
OMIM:234250 |
Ogden Syndrome |
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Delayed cranial suture closure, Thick upper lip vermilion, Diarrhea, Wide nasal bridge, Everted u... |
OMIM:300855 |
Osteogenesis Imperfecta, Type Xix |
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Dentinogenesis imperfecta, Biconcave vertebral bodies, Recurrent fractures, Rhizomelia, Vertebral... |
OMIM:301014 |
Alpha-Mannosidosis |
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Dental malocclusion, Mandibular prognathia, Narrow palate, Macrotia, Kyphosis, Widely spaced teet... |
ORPHA:61 |
Fryns Syndrome |
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Broad neck, Wide nasal bridge, Camptodactyly, Short neck, Hypoplasia of the optic tract, Cleft pa... |
OMIM:229850 |
Chromosome 6Q11-Q14 Deletion Syndrome |
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High palate, Long philtrum, Micrognathia, Joint laxity, Short nose, Thin upper lip vermilion, Bro... |
OMIM:613544 |
Meckel Syndrome, Type 2 |
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Meningocele, Polydactyly, Encephalocele, Anencephaly, Dandy-Walker malformation, Intestinal malro... |
OMIM:603194 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
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Preaxial hand polydactyly, Radial club hand, Short metacarpal, Wide nasal bridge, Micrognathia, S... |
ORPHA:1278 |
Developmental And Epileptic Encephalopathy 66 |
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Macrodontia of permanent maxillary central incisor, Wide mouth, Widely spaced teeth, Wide nasal b... |
OMIM:618067 |
Meckel Syndrome, Type 1 |
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Camptodactyly of finger, Micrognathia, Short neck, Radial deviation of finger, Postaxial hand pol... |
OMIM:249000 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
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Sagittal craniosynostosis, Natal tooth, Death in infancy, Micrognathia, Depressed nasal bridge, L... |
OMIM:616901 |
Gapo Syndrome |
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Umbilical hernia, Mandibular prognathia, Long philtrum, Optic atrophy, Delayed eruption of teeth,... |
ORPHA:2067 |
3M Syndrome |
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Horizontal ribs, Enlarged thorax, Delayed eruption of teeth, Everted lower lip vermilion, Scapula... |
ORPHA:2616 |
Nasopalpebral Lipoma-Coloboma Syndrome |
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Wide nasal bridge, Hypoplasia of the maxilla, Depressed nasal bridge, Low-set ears, Cupped ear |
OMIM:167730 |
Chromosome 15Q26-Qter Deletion Syndrome |
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Wide nasal bridge, Micrognathia, Microcephaly, Brachydactyly, Low-set ears, Short middle phalanx ... |
OMIM:612626 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
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Cleft mandible, Hip subluxation, Short tibia, Short 5th finger, Micrognathia, Cleft lower alveola... |
OMIM:268305 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
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Thick corpus callosum, Hydrocephalus, Syndactyly, Megalencephaly, Postaxial hand polydactyly, Pol... |
OMIM:615938 |
Autosomal Recessive Robinow Syndrome |
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Camptodactyly of finger, Bifid tongue, Wide nasal bridge, Ectopic anus, Toe syndactyly, Micrognat... |
ORPHA:1507 |
Mucopolysaccharidosis Type 3 |
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Conductive hearing impairment, Flexion contracture, Optic atrophy, Abnormality of the middle ear ... |
ORPHA:581 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
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Underdeveloped nasal alae, Camptodactyly of finger, Hypoplasia of the frontal bone, Conductive he... |
ORPHA:306542 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
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Camptodactyly of finger, Abnormal mandible morphology, Prominence of the zygomatic bone, Conducti... |
ORPHA:2215 |
Cleft Palate-Large Ears-Small Head Syndrome |
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Macrotia, Micrognathia, Pectus excavatum, Skeletal muscle atrophy, Short distal phalanx of finger... |
ORPHA:2013 |
Fetal Akinesia Deformation Sequence 2 |
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Flexion contracture, High palate, Wide nasal bridge, Micrognathia, Tented upper lip vermilion, Lo... |
OMIM:618388 |
Brachydactyly, Type A1 |
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Aplasia/Hypoplasia of the middle phalanges of the toes, Flattened metatarsal heads, Short metacar... |
OMIM:112500 |
Muenke Syndrome |
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Dental malocclusion, Short middle phalanx of toe, Sensorineural hearing impairment, High palate, ... |
OMIM:602849 |
Holoprosencephaly |
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Abnormal antihelix morphology, Spinal dysraphism, Synophrys, Holoprosencephaly, Short neck, Depre... |
ORPHA:2162 |
Craniotelencephalic Dysplasia |
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Cerebellar hypoplasia, Craniosynostosis, Septo-optic dysplasia, Arrhinencephaly, Hydrocephalus, L... |
ORPHA:1528 |
Mullegama-Klein-Martinez Syndrome |
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Prominent nose, Long philtrum, Wide nasal bridge, Microtia, Sensorineural hearing impairment, Mic... |
OMIM:301022 |
Microphthalmia, Syndromic 8 |
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Cleft palate, Split foot, Mandibular prognathia, Microcephaly |
OMIM:601349 |
Congenital Neuronal Ceroid Lipofuscinosis |
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Wide nasal bridge, Cerebellar hypoplasia, Cerebral hypoplasia, Neuronal loss in the cerebral cort... |
ORPHA:168486 |
Mucolipidosis Ii Alpha/Beta |
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Hip subluxation, Cerebral cortical atrophy, Coxa valga, Micrognathia, Flared iliac wing, Hip disl... |
OMIM:252500 |
Triphalangeal Thumbs With Brachyectrodactyly |
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Triphalangeal thumb, Short 3rd toe, Split foot, Split hand, Brachydactyly, Short 2nd finger |
OMIM:190680 |
Crossed Polysyndactyly |
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Hearing abnormality, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormality of the outer... |
ORPHA:2935 |
Fetal Minoxidil Syndrome |
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Low-set, posteriorly rotated ears, Micrognathia, Depressed nasal bridge, Umbilical hernia |
ORPHA:1918 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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Sensorineural hearing impairment, Delayed eruption of teeth, Taurodontia, Short philtrum, High, n... |
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