Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Bulbous nose, Widely-spaced incisors, Hypoplasia of the corpus callosum, Optic atrophy, Hypoplasi... |
OMIM:618737 |
Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Hydrocephalus, Macrocephaly, Alobar holoprosencephaly, Parietal bos... |
OMIM:610828 |
Frontofacionasal Dysplasia |
|
Cleft upper lip, Brachycephaly, Malar flattening, Bifid nose, Bifid uvula, Oral cleft, Short nose... |
OMIM:229400 |
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
Basal ganglia calcification, Craniosynostosis, Microcephaly, Hypoplasia of the maxilla, Prominent... |
OMIM:608432 |
Cleft Velum |
|
Nasal regurgitation, Velopharyngeal insufficiency, Aspiration pneumonia, Poor suck, Hypoplasia of... |
ORPHA:99772 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus, Convex nasal ridge, Malar flattening, Respiratory insufficiency, Aplasia/Hypoplasi... |
ORPHA:93262 |
Maxillonasal Dysplasia |
|
Tooth agenesis, Depressed nasal ridge, Cleft palate, Open bite, Depressed nasal bridge, Abnormali... |
ORPHA:1248 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cleft palate, Bifid nose, Agenesis of corpus callosum, Cranium bifidum occultum, Hypoplasia of th... |
ORPHA:306542 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Temporomandibular joint ankylosis, Cleft palate, Feeding difficulties, Aspi... |
ORPHA:141152 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Gingival overgrowth, Depressed nasal ridge, Retrognathia, Micrognathia, Mic... |
ORPHA:1832 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Supernumerary vertebral ossification centers, Rib fusion... |
OMIM:609813 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Cleft upper lip, Diastema, Fusion of gums, Irregular dentition, Abnormality of the maxilla, Media... |
ORPHA:401942 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Vertebral segmentation defect, Rib fusion, Short stature, Hemivertebrae, Spina ... |
OMIM:613686 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Everted lower lip vermilion, Broad nasal tip, Long philtrum, Deep p... |
OMIM:137550 |
Crouzon Syndrome |
|
Hydrocephalus, Narrow palate, Convex nasal ridge, Respiratory insufficiency, Cerebellar hypoplasi... |
ORPHA:207 |
Isolated Exencephaly |
|
Abnormal facial skeleton morphology, Holoprosencephaly, Depressed nasal bridge, Aplasia/Hypoplasi... |
ORPHA:563612 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus, Microcephaly, Hypoplasia of the maxilla, Periventricular leukomalacia, Wide nasal ... |
OMIM:618302 |
Holoprosencephaly 9 |
|
Cleft upper lip, Dental malocclusion, Hypoplasia of the premaxilla, Hydrocephalus, Malar flatteni... |
OMIM:610829 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide anterior fontanel, Hydrocephalus, Cerebral atrophy, Prominence of the premaxilla, Hepatic fa... |
OMIM:614886 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Hartsfield Syndrome |
|
Cleft upper lip, Cleft palate, Craniosynostosis, Microcephaly, Wide nose, Hypoplasia of the front... |
OMIM:615465 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Broad nasal tip, Hypoplasia of the maxilla, Midface retrusion, Abnormality of the dentition |
ORPHA:2776 |
Skraban-Deardorff Syndrome |
|
Thick upper lip vermilion, Constipation, Feeding difficulties, Depressed nasal bridge, Hyperplasi... |
OMIM:617616 |
Frontonasal Dysplasia 1 |
|
Median cleft palate, Broad nasal tip, Bifid nose, Bifid nasal tip, Hypoplastic frontal sinuses, C... |
OMIM:136760 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormal palate morphology, Narrow mouth, Malar flattening, Depressed nasal ridge, Prominence of ... |
ORPHA:2412 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Severe short stature, Short neck, Scoliosis, Posterior rib fusion,... |
ORPHA:1797 |
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet |
|
Bulbous nose, Micrognathia, Bifid nose, Bifid nasal tip, Brachycephaly, Trigonocephaly |
OMIM:275595 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Anal atresia, Microcephaly, Hypoplasia of the maxilla, Mandibular prognathia, Brachycephaly |
ORPHA:93950 |
Fg Syndrome Type 1 |
|
High palate, Wide mouth, Malrotation of colon, Hydrocephalus, Craniosynostosis, Limited elbow ext... |
ORPHA:93932 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Severe short stature, Back pain, Short... |
OMIM:277300 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
High palate, Macrocephaly, Hypoplasia of the maxilla, Mandibular prognathia, Chronic constipation... |
OMIM:300676 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
High palate, Facial diplegia, Decreased sensory nerve conduction velocity, Decreased motor nerve ... |
OMIM:218000 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Macrocephaly, Cerebral cortical atrophy, Feeding difficulties, Micrognathia, Cerebellar hypoplasi... |
OMIM:618291 |
Craniofacial-Deafness-Hand Syndrome |
|
Narrow mouth, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Depressed nasal bridg... |
ORPHA:1529 |
Lujan-Fryns Syndrome |
|
High palate, Macrocephaly, Micrognathia, Abnormality of the dentition, Short philtrum, Hypoplasia... |
ORPHA:776 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Premature loss of teeth, Convex nasal ridge, Thin vermilion border, Short philtrum, Hypoplasia of... |
OMIM:156510 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of the premaxilla, Anal atresia, Narrow mouth, Hydrocephalus, Cleft palate, Holoprosen... |
ORPHA:2166 |
Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... |
ORPHA:199306 |
20P12.3 Microdeletion Syndrome |
|
Narrow mouth, Macrocephaly, Malar flattening, Depressed nasal bridge, Long philtrum, Hypoplasia o... |
ORPHA:261295 |
Non-Distal Trisomy 10Q |
|
High palate, Convex nasal ridge, Everted lower lip vermilion, Depressed nasal bridge, Micrognathi... |
ORPHA:1695 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Microcephaly, Hyperplasia of the maxilla, Cerebellar hypoplasia |
OMIM:618383 |
Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Hypoplasia of the maxilla, Malar flattening |
OMIM:122880 |
Pierre Robin Syndrome |
|
Cleft palate, Glossoptosis, Micrognathia, Feeding difficulties in infancy, Upper airway obstructi... |
OMIM:261800 |
Osteolysis Syndrome, Recessive |
|
Broad nasal tip, Hypoplasia of the maxilla |
OMIM:259610 |
Isolated Arrhinia |
|
Respiratory distress, Aplasia of the nose, Hypoplasia of the nasal bone, Aplasia/Hypoplasia of th... |
ORPHA:1134 |
Malan Syndrome |
|
Gingival overgrowth, Narrow mouth, Macrocephaly, Everted lower lip vermilion, Retrognathia, Advan... |
OMIM:614753 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
High palate, Macrocephaly, Microcephaly, Hypoplasia of the maxilla, Prominent nasal bridge |
ORPHA:85279 |
Nemaline Myopathy 9 |
|
High palate, Micrognathia, Respiratory insufficiency, Cleft palate |
OMIM:615731 |
Holoprosencephaly 2 |
|
Constipation, Alobar holoprosencephaly, Malar flattening, Holoprosencephaly, Microcephaly, Bifid ... |
OMIM:157170 |
Neurofaciodigitorenal Syndrome |
|
Hypoplasia of the premaxilla, Plagiocephaly, Abnormal oral mucosa morphology, Mandibular prognath... |
ORPHA:2673 |
Hemifacial Hyperplasia |
|
Dental malocclusion, Hypoplasia of the maxilla |
OMIM:133900 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, High palate, Cerebral atrophy, Feeding difficulties, Retrognathia, Micrognathia,... |
OMIM:611890 |
Jackson-Weiss Syndrome |
|
Convex nasal ridge, Frontal bossing, Hypoplasia of the maxilla, Abnormal palate morphology, Mandi... |
ORPHA:1540 |
Microphthalmia With Limb Anomalies |
|
High palate, Hypoplasia of the premaxilla, Cleft upper lip, Hydrocephalus, Cleft palate, Thin ver... |
ORPHA:1106 |
Split-Hand/Foot Malformation 3 |
|
High palate, Narrow mouth, Microretrognathia, Cleft palate, Hypoplasia of the maxilla |
OMIM:246560 |
Femoral-Facial Syndrome |
|
Vertebral segmentation defect, Coxa vara, Sprengel anomaly, Rib fusion, Talipes equinovarus, Apla... |
ORPHA:1988 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Wide mouth, Pectus excavatum, Triangular mouth, Hypoplastic sacrum, Hypoplasia of the radius, Dep... |
OMIM:268310 |
Aarskog-Scott Syndrome |
|
Pectus excavatum, Cleft palate, Abnormality of the dentition, Short neck, Delayed eruption of tee... |
ORPHA:915 |
Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Severe short stature, Hemivertebrae, Short neck, Scoliosis, Posterior rib fu... |
OMIM:122600 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Kyphosis, Rib fusion, Abnormal intervertebral disk morphology, Sho... |
ORPHA:2311 |
Usher Syndrome, Type Ig |
|
Hypoplasia of the nasal bone |
OMIM:606943 |
Apert Syndrome |
|
Hydrocephalus, Cleft palate, Depressed nasal bridge, Brachyturricephaly, Delayed eruption of teet... |
ORPHA:87 |
Congenital Disorder Of Glycosylation, Type Iu |
|
High palate, Respiratory distress, Feeding difficulties, Micrognathia, Cerebellar hypoplasia, Opt... |
OMIM:615042 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Cleft palate, Malar flattening, Feeding difficulties, Micrognathia, Shor... |
ORPHA:79113 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
High palate, Narrow mouth, Retrognathia, Microcephaly, Brachycephaly |
ORPHA:2528 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Bulbous nose, Short philtrum, Hypoplasia of the maxilla |
ORPHA:93945 |
Stickler Syndrome Type 1 |
|
Short nose, Hypoplasia of the maxilla, Long philtrum, Cleft palate |
ORPHA:90653 |
Keipert Syndrome |
|
Macrocephaly, Depressed nasal bridge, Hypoplasia of the maxilla, Tented upper lip vermilion, Exag... |
ORPHA:2662 |
Sweeney-Cox Syndrome |
|
High palate, Cleft palate, Overfolded helix, Short philtrum, Cutaneous syndactyly, Bilateral cryp... |
OMIM:617746 |
Atelosteogenesis, Type Iii |
|
Cleft palate, Malar flattening, Depressed nasal bridge, Micrognathia, Prominent occiput, Frontal ... |
OMIM:108721 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Wide mouth, Bulbous nose, Depressed nasal ridge, Hemivertebrae, Microdontia, Short nose, Sandal g... |
OMIM:156200 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck, Disprop... |
OMIM:608681 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Macrocephaly, Craniosynostosis, Optic atrophy, Broad jaw, Thickened calvaria, Facial palsy, Brach... |
ORPHA:178377 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Malar flattening, Coronal craniosynostosis, Micrognathia, Optic disc coloboma, Aglos... |
OMIM:241310 |
Microcephaly-Capillary Malformation Syndrome |
|
Cerebral atrophy, Cleft palate, Hypoplasia of the corpus callosum, Optic atrophy, Wide nose, Shor... |
OMIM:614261 |
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Mandibular condyle hypoplasia, Micrognathia |
ORPHA:2975 |
Myasthenic Syndrome, Congenital, 19 |
|
High palate, Low-set ears, Spinal rigidity, Retrognathia, Micrognathia, Respiratory insufficiency... |
OMIM:616720 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Short stature, Scoliosis, Pectus carinatum, Radioulnar synostosis... |
ORPHA:3268 |
Trisomy 13 |
|
Abnormal antihelix morphology, Abnormal helix morphology, Cleft palate, Abnormality of the dentit... |
ORPHA:3378 |
Lowry-Maclean Syndrome |
|
Hydrocephalus, Trigonocephaly, Convex nasal ridge, High, narrow palate, Cleft palate, Craniosynos... |
ORPHA:2409 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
High palate, Cerebral atrophy, Feeding difficulties, Retrognathia, Respiratory insufficiency, Mic... |
OMIM:615330 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Crowded maxillary incisors, Macrocephaly, Hypoplasia of the maxilla |
ORPHA:397973 |
Kleeblattschaedel |
|
Hydrocephalus, Proptosis |
OMIM:148800 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Wide mouth, Narrow mouth, Prominent nasal tip, Feeding difficulties, Depressed nasal bridge, Micr... |
OMIM:615834 |
Auriculocondylar Syndrome 1 |
|
Cleft at the superior portion of the pinna, Dental malocclusion, Narrow mouth, Apnea, Cleft palat... |
OMIM:602483 |
Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... |
ORPHA:2345 |
Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
High palate, Bulbous nose, Clinodactyly of the 5th finger, Plagiocephaly, Prominent fingertip pad... |
OMIM:619188 |
Coffin-Lowry Syndrome |
|
High palate, Wide mouth, Depressed nasal bridge, Delayed eruption of teeth, Advanced eruption of ... |
ORPHA:192 |
Cohen Syndrome |
|
Thick corpus callosum, Convex nasal ridge, Macrodontia of permanent maxillary central incisor, Hi... |
OMIM:216550 |
8Q22.1 Microdeletion Syndrome |
|
Depressed nasal ridge, Craniosynostosis, Abnormality of the nares, Abnormality of the dentition, ... |
ORPHA:178303 |
Mandibulofacial Dysostosis With Alopecia |
|
Low-set ears, Conductive hearing impairment, Protruding ear, Cleft palate, Everted lower lip verm... |
OMIM:616367 |
Metatropic Dysplasia |
|
Enlarged joints, Halberd-shaped pelvis, Depressed nasal bridge, Cone-shaped epiphysis, Platyspond... |
OMIM:156530 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
High palate, Pectus excavatum, Short neck, Optic disc coloboma, Bilateral cryptorchidism, Retrogn... |
OMIM:300472 |
Myopathy, Congenital, Bailey-Bloch |
|
High palate, Cleft palate, Feeding difficulties, Micrognathia, Microcephaly, Downturned corners o... |
OMIM:255995 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Absent... |
ORPHA:66637 |
Potocki-Shaffer Syndrome |
|
Parietal foramina, Broad nasal tip, Depressed nasal tip, Micrognathia, Short philtrum, Downturned... |
ORPHA:52022 |
Premature Aging Syndrome, Penttinen Type |
|
Thin vermilion border, Micrognathia, Thin calvarium, Narrow nose, Delayed eruption of teeth, Midf... |
OMIM:601812 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
High palate, Sensorineural hearing impairment, Abnormal pinna morphology, Pectus excavatum, Cleft... |
ORPHA:52055 |
Microphthalmia With Limb Anomalies |
|
High palate, Cleft palate, Depressed nasal bridge, Single transverse palmar crease, Short nose, S... |
OMIM:206920 |
Van Maldergem Syndrome 1 |
|
High palate, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Tented upper lip vermi... |
OMIM:601390 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
High palate, Bulbous nose, Pectus excavatum, Short philtrum, Short neck, Tented upper lip vermili... |
ORPHA:247262 |
Pfeiffer Syndrome |
|
High palate, Hydrocephalus, Coronal craniosynostosis, Depressed nasal bridge, Brachyturricephaly,... |
OMIM:101600 |
Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... |
OMIM:173800 |
Dysostosis, Stanescu Type |
|
Tooth agenesis, Convex nasal ridge, Macroglossia, Cerebral calcification, Abnormal nasal morpholo... |
ORPHA:1798 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Short philtrum, Diastema, Overhanging nasal tip, Hypoplasia of the maxil... |
OMIM:619142 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
High palate, Cerebral cortical atrophy, Tooth malposition, Malar flattening, Everted lower lip ve... |
ORPHA:1387 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Hydrocephalus, Feeding difficulties, Micrognathia, Unilambdoid synostosis, Long ph... |
OMIM:618577 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal sclerosis, Platyspondyly, Hypoplasia of the capital femoral epiphysis, Pectus carinat... |
OMIM:609052 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed cranial suture closure,... |
OMIM:113000 |
Pallister-Hall Syndrome |
|
Cleft palate, Hypothalamic hamartoma, Decreased circulating cortisol level, Depressed nasal bridg... |
OMIM:146510 |
Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Talipes equinovarus, Vertebral fusion, Brachydactyly, Proximal symphalangism, ... |
OMIM:610017 |
Isolated Pierre Robin Syndrome |
|
Cleft palate, Glossoptosis, Micrognathia, Upper airway obstruction, Neonatal respiratory distress |
ORPHA:718 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Cleft palate, Hemivertebrae, Pectus carinatum, Radioulnar synostosis, Single transverse palmar cr... |
OMIM:614701 |
Marshall Syndrome |
|
High palate, Thick upper lip vermilion, Malar flattening, Cleft palate, Cerebral calcification, D... |
ORPHA:560 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Mandibular osteomyelitis, Abnormal number of teeth, Abnormal cementum morpho... |
ORPHA:83451 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Wide mouth, Slender nose, Constipation, Feeding difficulties, Gastroesophageal reflux, Micrognath... |
OMIM:615419 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Macrocephaly, Malar flattening, Hypoplasia of the maxilla, Abnormal auditory evoke... |
OMIM:109120 |
Dental Anomalies And Short Stature |
|
Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla, Mandibular prognathia, ... |
OMIM:601216 |
Metatropic Dysplasia |
|
Narrow chest, Joint stiffness, Hydrocephalus, Halberd-shaped pelvis, Clinodactyly of the 5th fing... |
ORPHA:2635 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Frontal bossing, Hypoplasia of the nasal bone |
OMIM:118650 |
Marshall-Smith Syndrome |
|
High palate, Apnea, Airway obstruction, Hydrocephalus, Craniosynostosis, Depressed nasal bridge, ... |
OMIM:602535 |
Nager Syndrome |
|
Wide mouth, Cleft palate, Micrognathia, Abnormal nasal morphology, Respiratory insufficiency, Hyp... |
ORPHA:245 |
Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... |
ORPHA:90650 |
Crouzon Syndrome |
|
Sleep apnea, Coronal craniosynostosis, Optic atrophy, Frontal bossing, Sagittal craniosynostosis,... |
OMIM:123500 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Micrognathia, Prominent nose, Supernumerary ribs, Vertebral fusion |
OMIM:221950 |
Acrocraniofacial Dysostosis |
|
Abnormal pinna morphology, Pectus excavatum, Cleft palate, Craniosynostosis, Short 1st metacarpal... |
ORPHA:949 |
Achondrogenesis Type 1A |
|
Macrocephaly, Abdominal distention, Micrognathia, Long philtrum, Frontal bossing, Short nose, Umb... |
ORPHA:93299 |
Distal Xq28 Microduplication Syndrome |
|
High palate, Asthma, Broad nasal tip, Recurrent upper respiratory tract infections, Microcephaly,... |
ORPHA:293939 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Facial diplegia, Thickened ribs, Cortical sclerosis, Diaphyseal sclerosis, Short stature, Papille... |
OMIM:122860 |
Van Maldergem Syndrome 2 |
|
High palate, Dental malocclusion, Wide anterior fontanel, Gray matter heterotopia, Malar flatteni... |
OMIM:615546 |
Gorlin-Chaudhry-Moss Syndrome |
|
Coronal craniosynostosis, Abnormality of the dentition, Oligodontia, Aplasia/Hypoplasia of the na... |
ORPHA:2095 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Microretrognathia, Feeding difficulties, Dolichocephaly, Cerebral calcifica... |
ORPHA:89844 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
High palate, Bulbous nose, Overfolded helix, Broad nasal tip, Depressed nasal bridge, Tapered fin... |
OMIM:613792 |
Branchiootorenal Syndrome 1 |
|
High palate, Cleft palate, Branchial fistula, Congenital hip dislocation, Microdontia, Euthyroid ... |
OMIM:113650 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal ... |
ORPHA:2790 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
High palate, Respiratory distress, Hydrocephalus, Prominent fingertip pads, Sandal gap, Anteriorl... |
OMIM:612863 |
Seckel Syndrome 4 |
|
Short stature, Retrognathia, 11 pairs of ribs, Steep acetabular roof, Low-set ears, Intrauterine ... |
OMIM:613676 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Wide mouth, Feeding difficulties, Micrognathia, Microcephaly, Hypoplasia of... |
OMIM:300934 |
Holoprosencephaly |
|
Abnormal antihelix morphology, Hydrocephalus, Depressed nasal ridge, Depressed nasal tip, Short n... |
ORPHA:2162 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Bulbous nose, Narrow mouth, Cleft palate, Malar flattening, Arachnodactyly, Micrognathia, Cupped ... |
ORPHA:93946 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Long philtrum, Hypoplasia of the maxilla, Thick vermilion border, Anteverted n... |
ORPHA:228396 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Pectus excavatum, Attached earlobe, Depressed nasal bridge, Pectus carinatum, Short ... |
ORPHA:1327 |
Holoprosencephaly 11 |
|
Hypotelorism, Thick eyebrow, Holoprosencephaly, Proptosis, Synophrys |
OMIM:614226 |
Kabuki Syndrome 2 |
|
High palate, Cleft palate, Prominent fingertip pads, Broad nasal tip, Depressed nasal tip, Intrau... |
OMIM:300867 |
Periventricular Nodular Heterotopia 7 |
|
Gray matter heterotopia, Cleft palate, Micrognathia, Periventricular nodular heterotopia, Cortica... |
OMIM:617201 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Thick upper lip vermilion, Wide mouth, Mandibular prognathia, Brachycephaly, Thick lower lip verm... |
OMIM:309545 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Nablus Mask-Like Facial Syndrome |
|
High palate, Narrow mouth, Craniosynostosis, Retrognathia, Depressed nasal bridge, Abnormality of... |
OMIM:608156 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental malocclusion, Narrow mouth, Macrodontia of permanent maxillary central incisor, Thin vermi... |
OMIM:257850 |
Zaki Syndrome |
|
High palate, Wide mouth, Ectrodactyly, Short stature, Micrognathia, Short philtrum, Cupped ear, H... |
OMIM:619648 |
Acrodysostosis |
|
Depressed nasal ridge, Open bite, Depressed nasal bridge, Delayed eruption of teeth, Short nose, ... |
ORPHA:950 |
Intellectual Developmental Disorder, X-Linked 104 |
|
High palate, Abnormal pinna morphology, Retrognathia, Optic atrophy, Bifid nasal tip, Trigonoceph... |
OMIM:300983 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
2Q32Q33 Microdeletion Syndrome |
|
High palate, Dental crowding, Narrow mouth, Convex nasal ridge, Cleft palate, Feeding difficultie... |
ORPHA:251019 |
Axenfeld-Rieger Syndrome |
|
Hypodontia, Everted lower lip vermilion, Depressed nasal bridge, Microdontia, Hypoplasia of the m... |
ORPHA:782 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Alveolar pr... |
ORPHA:2972 |
Cornelia De Lange Syndrome 5 |
|
High palate, Gastroesophageal reflux, Cleft palate, Retrognathia, Broad nasal tip, Depressed nasa... |
OMIM:300882 |
Otopalatodigital Syndrome, Type Ii |
|
Hydrocephalus, Pectus excavatum, Cleft palate, Radial deviation of the 2nd finger, Depressed nasa... |
OMIM:304120 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
High palate, Abnormality of the tongue, Pectus excavatum, Cleft palate, Symphalangism affecting t... |
ORPHA:2990 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Cleft palate, Delayed eruption of teeth, Abnormal metaphysis morphology, Severe short stature, Hi... |
ORPHA:2780 |
Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Dilatated internal auditor... |
OMIM:602588 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
High palate, Macrocephaly, Long nose, Micrognathia, Short philtrum, Narrow nose, Narrow nasal bri... |
OMIM:309520 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Thick corpus callosum, Plagiocephaly, Malar flattening, Depressed nasal ridge, Dolichocephaly, Sh... |
OMIM:618672 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
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Dens in dente, Pectus excavatum, Hemivertebrae, Pectus carinatum, Mandibular prognathia, Spinal c... |
OMIM:263540 |
Distal Tetrasomy 15Q |
|
High palate, Hydrocele testis, Hydrocephalus, Sensorineural hearing impairment, Abnormal helix mo... |
ORPHA:314588 |
Sponastrime Dysplasia |
|
Relative macrocephaly, Depressed nasal bridge, Midface retrusion, Hypoplasia of the nasal bone, M... |
ORPHA:93357 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Wide mouth, High, narrow palate, Abnormal lip morphology, Feeding difficult... |
ORPHA:2707 |
Tetralogy Of Fallot |
|
Proptosis |
OMIM:187500 |
Angelman Syndrome |
|
Wide mouth, Cerebral cortical atrophy, Constipation, Macroglossia, Feeding difficulties in infanc... |
OMIM:105830 |
Kyphomelic Dysplasia |
|
Narrow chest, Joint stiffness, Undulate ribs, Micrognathia, Micromelia, Abnormal form of the vert... |
ORPHA:1801 |
Lateral Meningocele Syndrome |
|
High palate, Pectus excavatum, Short neck, Biconcave vertebral bodies, Short nasal bridge, Umbili... |
OMIM:130720 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
High palate, Narrow mouth, Macrocephaly, Microretrognathia, Cleft palate, Microdontia, Hypoplasia... |
ORPHA:1307 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Dolichocephaly, Depressed nasal bridge, Cupped ear, Coloboma, Hyp... |
OMIM:167730 |
Ververi-Brady Syndrome |
|
High palate, Wide mouth, Bulbous nose, Metaphyseal irregularity, Clinodactyly of the 5th finger, ... |
OMIM:617982 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus, Cerebral atrophy, Malar flattening, Craniosynostosis, Thin vermilion border, Depre... |
ORPHA:171839 |
Pde4D Haploinsufficiency Syndrome |
|
Prominent nasal tip, Malar flattening, Depressed nasal bridge, Micrognathia, Short philtrum, Long... |
ORPHA:439822 |
Rapp-Hodgkin Syndrome |
|
Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Depressed ... |
OMIM:129400 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Cleft palate, Glossoptosis, Micrognathia, Frontal bossing, Pierre-Robin sequence |
OMIM:311895 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
2-3 toe syndactyly, Joint contracture of the 4th finger, Retrognathia, Micrognathia, Cupped ear, ... |
OMIM:618914 |
Becker Nevus Syndrome |
|
Kyphosis, Rib fusion, Pectus excavatum, Micromelia, Scoliosis, Abnormality of tibia morphology, S... |
ORPHA:64755 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
High palate, Retrognathia, Depressed nasal bridge, Short nose, Pneumonia, Anteverted nares, Growt... |
OMIM:614069 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus, Hypodontia, Everted lower lip vermilion, Short philtrum, Microdontia, Hypoplasia o... |
OMIM:601499 |
Meckel Syndrome, Type 8 |
|
Cleft upper lip, Low-set ears, Talipes equinovarus, Cleft palate, Depressed nasal ridge, Short ne... |
OMIM:613885 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
High palate, Dental malocclusion, Wide anterior fontanel, Narrow palate, Gastroesophageal reflux,... |
OMIM:182212 |
Craniodiaphyseal Dysplasia |
|
Short stature, Depressed nasal bridge, Wide nasal bridge, Optic atrophy, Abnormal rib morphology,... |
ORPHA:1513 |
Arthrogryposis, Distal, Type 1C |
|
High palate, Pursed lips, Cleft palate, Short neck, Rocker bottom foot, Limited head rotation, Cl... |
OMIM:619110 |
Mohr Syndrome |
|
High palate, Accessory oral frenulum, Agenesis of central incisor, Hydrocephalus, Malar flattenin... |
OMIM:252100 |
Frias Syndrome |
|
Downslanted palpebral fissures, Hypertelorism, Proptosis, Ptosis |
OMIM:609640 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Short stature, Craniosy... |
OMIM:178110 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Dental crowding, Bulbous nose, Feeding difficulties, Depressed nasal bridge, Micrognathia, Long p... |
OMIM:615761 |
Treacher-Collins Syndrome |
|
High palate, Wide mouth, Cleft palate, Tracheoesophageal fistula, Abnormality of the dentition, B... |
ORPHA:861 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Tooth agenesis, Depressed nasal ridge, Bilateral cleft lip and palate, Meningocele, Absent nasal ... |
ORPHA:2003 |
Verheij Syndrome |
|
Growth delay, Short stature, Hemivertebrae, Short neck, Short 5th finger, Scoliosis, Short nose, ... |
OMIM:615583 |
Autosomal Recessive Robinow Syndrome |
|
Wide mouth, Pectus excavatum, Depressed nasal bridge, Abnormality of the dentition, Short philtru... |
ORPHA:1507 |
Hydrolethalus |
|
Low-set ears, Hydrocephalus, Cleft palate, Abnormality of the sense of smell, Retrognathia, Micro... |
ORPHA:2189 |
Cornelia De Lange Syndrome 2 |
|
High palate, Gastroesophageal reflux, Micrognathia, Microcephaly, Downturned corners of mouth, Th... |
OMIM:300590 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Hemivertebrae, Short neck, Short n... |
OMIM:213980 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Poor suck, Micrognathia, Frontalis muscle weakness, Facial palsy, Respirato... |
OMIM:300580 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
High palate, Bulbous nose, Feeding difficulties, Thin vermilion border, Long philtrum, Vomiting, ... |
ORPHA:481152 |
Kbg Syndrome |
|
Cleft palate, Cutaneous syndactyly, Short neck, Macrodontia, Bilateral conductive hearing impairm... |
ORPHA:2332 |
Megalocornea-Mental Retardation Syndrome |
|
High palate, Large fleshy ears, Genu recurvatum, Short stature, Arachnodactyly, Depressed nasal b... |
OMIM:249310 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
Postaxial Acrofacial Dysostosis |
|
Conductive hearing impairment, Abnormality of the middle ear, Supernumerary nipple, Cleft palate,... |
ORPHA:246 |
Parenti-Mignot Neurodevelopmental Syndrome |
|
Prominent nasal tip, Microtia, Craniosynostosis, Micrognathia, Short philtrum, Cupped ear, Fronta... |
OMIM:619873 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Low-set ears, Protruding ear, Gray matter heterotopia, Joint stiffness, Kyphoscoliosis, Acrania, ... |
OMIM:618820 |
Adenylosuccinate Lyase Deficiency |
|
Microcephaly, Long philtrum, Short nose, Flat occiput, Thin upper lip vermilion, Hypointensity of... |
ORPHA:46 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
High palate, Pectus excavatum, Craniosynostosis, Overfolded helix, Hypoplasia of the radius, Shor... |
OMIM:609945 |
Prieto Syndrome |
|
Low-set ears, Talipes equinovarus, Retrognathia, Abnormality of the dentition, 11 pairs of ribs, ... |
OMIM:309610 |
Fetal Akinesia Deformation Sequence 4 |
|
High palate, Low-set ears, Kyphosis, Flexion contracture, Retrognathia, Micrognathia, Short neck,... |
OMIM:618393 |
Acrodysostosis With Multiple Hormone Resistance |
|
Malar flattening, Absent/hypoplastic paranasal sinuses, Depressed nasal bridge, Hypoplasia of the... |
ORPHA:280651 |
Carpenter Syndrome 1 |
|
High palate, Persistence of primary teeth, Cerebral atrophy, Malar flattening, Coronal craniosyno... |
OMIM:201000 |
Witteveen-Kolk Syndrome |
|
High palate, Depressed nasal bridge, Branchial fistula, Short philtrum, Short nose, Open mouth, M... |
OMIM:613406 |
Frontorhiny |
|
Basal encephalocele, Cleft palate, Bifid tongue, Hypoplastic frontal sinuses, Cranium bifidum occ... |
ORPHA:391474 |
Pycnodysostosis |
|
Obtuse angle of mandible, Dental malocclusion, High palate, Cerebral dysmyelination, Convex nasal... |
ORPHA:763 |
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
|
High palate, Wide mouth, Uplifted earlobe, Protruding ear, Prominent fingertip pads, Retrognathia... |
OMIM:615722 |
Aminopterin Syndrome Sine Aminopterin |
|
High palate, Macrocephaly, Cleft palate, Micrognathia, Oligodontia, Microcephaly, Frontal bossing... |
OMIM:600325 |
Schinzel-Giedion Syndrome |
|
High palate, Wide mouth, Respiratory distress, Abnormal clavicle morphology, Abnormal helix morph... |
ORPHA:798 |
Arthrogryposis, Distal, Type 1A |
|
Congenital hip dislocation, Single transverse palmar crease, Rocker bottom foot, Calcaneovalgus d... |
OMIM:108120 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability, Short stature |
OMIM:251250 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Cleft upper lip, Selective tooth agenesis, Hypodontia, Cleft palate, Bilateral choanal atresia, W... |
OMIM:106260 |
Multiple Pterygium Syndrome, Escobar Variant |
|
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Short neck, Down-slopin... |
OMIM:265000 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Micrognathia, Hypoplasia of the maxilla |
OMIM:166300 |
Trisomy 1Q |
|
Hydrocephalus, Cleft palate, Depressed nasal bridge, Abnormality of the outer ear, Anal atresia, ... |
ORPHA:261344 |
Microcephaly-Deafness-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Protruding ear, Everted lower lip vermilion, Short stature, Mic... |
ORPHA:2533 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Everted lower lip vermilion, Retrognathia, Overfolded helix, Cupped ear, Joint hypermobility, Low... |
OMIM:617101 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Cryptorchidism, Bilateral talipes equinovarus, Retrognathia, Finger clinodactyly, Osteoporosis, P... |
ORPHA:2958 |
Osteogenesis Imperfecta, Type Xii |
|
High palate, Narrow mouth, Malar flattening, Depressed nasal bridge, Micrognathia, Brachyturricep... |
OMIM:613849 |
14Q22Q23 Microdeletion Syndrome |
|
Delayed skeletal maturation, Clinodactyly of the 5th finger, Micrognathia, Cupped ear, Anophthalm... |
ORPHA:264200 |
Kagami-Ogata Syndrome |
|
Retrognathia, Depressed nasal bridge, Micrognathia, Long philtrum, Frontal bossing, Hypoplasia of... |
OMIM:608149 |
Acrofacial Dysostosis, Cincinnati Type |
|
Cleft palate, Retrognathia, Micrognathia, Microcephaly, Choanal atresia, Hypoplasia of the maxill... |
OMIM:616462 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Cervical C2/C3 vertebral fusion, Short distal phalanx of the thum... |
ORPHA:370010 |
Short Stature And Facioauriculothoracic Malformations |
|
Cleft upper lip, High palate, Pectus excavatum, Cleft palate, Microtia, Overfolded helix, Cupped ... |
OMIM:609654 |
Spondylospinal Thoracic Dysostosis |
|
Micrognathia, Hypoplasia of the maxilla |
OMIM:601809 |
Goldberg-Shprintzen Syndrome |
|
Bulbous nose, Everted lower lip vermilion, Short philtrum, Microcephaly, Polymicrogyria, Hypoplas... |
OMIM:609460 |
Aicardi Syndrome |
|
Cleft upper lip, Gray matter heterotopia, Hiatus hernia, Cleft palate, Prominence of the premaxil... |
OMIM:304050 |
Cerebrofacioarticular Syndrome |
|
Narrow mouth, Gray matter heterotopia, Dysplastic corpus callosum, Tracheomalacia, Micrognathia, ... |
ORPHA:314679 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of cartilage of external ear, Severe postnatal growth... |
ORPHA:2399 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Asthma, Gastroesophageal reflux, Depressed nasal ridge, Feeding difficulties, Broad nasal tip, Op... |
ORPHA:79345 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Low-set ears, Narrow mouth, Prominent nasal tip, Decreased palmar creases, Joint contracture of t... |
ORPHA:352490 |
Baller-Gerold Syndrome |
|
High palate, Hydrocephalus, Cleft palate, Hypoplasia of the radius, Brachyturricephaly, Polymicro... |
OMIM:218600 |
Pierpont Syndrome |
|
Prominent median palatal raphe, Malar flattening, Everted lower lip vermilion, Thin vermilion bor... |
OMIM:602342 |
Acitretin/Etretinate Embryopathy |
|
High palate, Median cleft palate, Hypoplastic nasal septum, Aplasia/Hypoplasia of the maxilla, Mi... |
ORPHA:40366 |
Aicardi Syndrome |
|
Cleft upper lip, Malabsorption, Plagiocephaly, Hiatus hernia, Constipation, Cleft palate, Promine... |
ORPHA:50 |
3Mc Syndrome 2 |
|
Cleft upper lip, Cleft palate, Prominence of the premaxilla, Craniosynostosis, Depressed nasal ti... |
OMIM:265050 |
Saethre-Chotzen Syndrome |
|
Sleep apnea, Plagiocephaly, Narrow palate, Convex nasal ridge, Cleft palate, Craniosynostosis, Op... |
ORPHA:794 |
Postaxial Acrofacial Dysostosis |
|
Pectus excavatum, Cleft palate, Hypoplasia of the radius, Congenital hip dislocation, Radioulnar ... |
OMIM:263750 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Narrow mouth, Tooth malposition, Hypodontia, Micrognathia, Abnormality ... |
ORPHA:363417 |
Martsolf Syndrome 1 |
|
High palate, Tooth malposition, Tracheomalacia, Broad nasal tip, Depressed nasal bridge, Microgna... |
OMIM:212720 |
Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Velopharyngeal insufficiency, Malar flattening, Short stature, ... |
OMIM:182290 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Dolichocephaly, Depressed nasal bridge, Protuberant abdomen, Hypoplasia of ... |
OMIM:617102 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
High palate, Wide mouth, Bulbous nose, Pectus excavatum, Craniosynostosis, Broad nasal tip, Depre... |
OMIM:309590 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Hypertelorism, Proptosis |
ORPHA:35099 |
Holoprosencephaly 4 |
|
Depressed nasal bridge, Depressed nasal tip, Median cleft lip and palate, Absent nasal septal car... |
OMIM:142946 |
Meier-Gorlin Syndrome 4 |
|
Narrow mouth, Feeding difficulties, Micrognathia, Microcephaly, Hypoplasia of the maxilla, Emphys... |
OMIM:613804 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Vertebral segmentation defect, Cleft palate, Abnormal hip bone morphology, Thin vermilion border,... |
ORPHA:2631 |
Charge Syndrome |
|
Cleft palate, Overfolded helix, Depressed nasal bridge, Tracheoesophageal fistula, Hemivertebrae,... |
ORPHA:138 |
Desmosterolosis |
|
Alveolar ridge overgrowth, Hydrocephalus, Joint contracture of the hand, Cleft palate, Bilateral ... |
OMIM:602398 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Bulbous nose, Abnormal autonomic nervous system physiology, Flexion contracture, Cupped ear, Tape... |
OMIM:613870 |
Odontochondrodysplasia |
|
Respiratory distress, Dentinogenesis imperfecta, Retrognathia, Depressed nasal bridge, Delayed er... |
ORPHA:166272 |
Ring Chromosome 21 Syndrome |
|
Holoprosencephaly, Small hand, Short stature, Fused thoracic vertebrae, Syndactyly, Scoliosis, Na... |
ORPHA:1445 |
Baraitser-Winter Syndrome 1 |
|
Wide mouth, Overfolded helix, Short neck, Short nose, Microphthalmia, Pachygyria, Midface retrusi... |
OMIM:243310 |
Pallister-Hall Syndrome |
|
Central adrenal insufficiency, Depressed nasal ridge, Cleft palate, Hypothalamic hamartoma, Hemiv... |
ORPHA:672 |
Qazi-Markouizos Syndrome |
|
Abdominal distention, High, narrow palate, Open mouth, Hypoplasia of teeth, Broad philtrum, Chron... |
ORPHA:3010 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Micrognathia, Cleft palate |
OMIM:172880 |
Hypomandibular Faciocranial Dysostosis |
|
Narrow mouth, Trigonocephaly, Aplasia/Hypoplasia of the tongue, Cleft palate, Craniosynostosis, M... |
ORPHA:1790 |
Perching Syndrome |
|
High palate, Respiratory distress, Feeding difficulties, Depressed nasal bridge, Dysphagia |
OMIM:617055 |
Craniolenticulosutural Dysplasia |
|
High palate, Wide mouth, Premature loss of teeth, Thin vermilion border, Long philtrum, Delayed e... |
ORPHA:50814 |
X-Linked Intellectual Disability, Snyder Type |
|
High palate, Bulbous nose, Testicular atrophy, Pectus excavatum, Cleft palate, Abnormality of the... |
ORPHA:3063 |
Gorlin Syndrome |
|
Hydrocephalus, Mandibular prognathia, Arachnodactyly, Hemivertebrae, Vertebral fusion, Abnormalit... |
ORPHA:377 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
High palate, Macrocephaly, Micrognathia, Recurrent upper respiratory tract infections, Microcepha... |
OMIM:300534 |
Kniest Dysplasia |
|
Enlarged joints, Flexion contracture of finger, Depressed nasal bridge, Short neck, Platyspondyly... |
ORPHA:485 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla |
OMIM:608154 |
Multiple Pterygium Syndrome, X-Linked |
|
Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Depressed nasal ridge, Micr... |
OMIM:312150 |
Williams-Beuren Region Duplication Syndrome |
|
High palate, Hydrocephalus, Macrocephaly, Broad nasal tip, Short philtrum, Micrognathia, Diastema... |
OMIM:609757 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Bulbous nose, Feeding difficulties, Thin vermilion border, Micrognathia, Sh... |
ORPHA:261304 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
High palate, Abnormal pinna morphology, Short neck, Down-sloping shoulders, Tapered finger, Intra... |
OMIM:617452 |
Fraser Syndrome 1 |
|
Hydrocephalus, Abnormal pinna morphology, Cleft palate, Depressed nasal bridge, Cleft ala nasi, A... |
OMIM:219000 |
Craniodigital-Intellectual Disability Syndrome |
|
Micrognathia, Spina bifida occulta, Narrow nasal bridge, Short nose, Brachycephaly |
ORPHA:1514 |
Wolf-Hirschhorn Syndrome |
|
Cleft palate, Short philtrum, Optic atrophy, Delayed skeletal maturation, Abnormal lip morphology... |
ORPHA:280 |
Anophthalmia Plus Syndrome |
|
Vertebral segmentation defect, Cleft palate, Abnormal nasal morphology, Anophthalmia, Low-set, po... |
ORPHA:1104 |
Larsen-Like Syndrome |
|
Dental malocclusion, Wide anterior fontanel, Macrocephaly, Cleft palate, Malar flattening, Fronta... |
OMIM:608545 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Malar flattening, Microcephaly, Narrow nasal bridge, Flat occiput, Abnormal zygomatic bone morpho... |
ORPHA:2511 |
Cerebrooculonasal Syndrome |
|
High palate, Hydrocephalus, Cleft palate, Craniosynostosis, Short nose, Solitary median maxillary... |
OMIM:605627 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Abnormal cerebral white matter morphology, Hyperplasia of the maxilla, Thin upper lip vermilion |
OMIM:618587 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Depressed nasal bridge, Micromelia, Symphalangism affecting the pha... |
ORPHA:628 |
Recombinant Chromosome 8 Syndrome |
|
Gingival overgrowth, Cerebral atrophy, Malar flattening, Depressed nasal bridge, Micrognathia, Ab... |
OMIM:179613 |
Treacher Collins Syndrome 4 |
|
Cleft palate, Malar flattening, Micrognathia, Microcephaly, Respiratory failure requiring assiste... |
OMIM:618939 |
Wieacker-Wolff Syndrome |
|
High palate, Apnea, Short neck, U-Shaped upper lip vermilion, Talipes equinovarus, Congenital foo... |
OMIM:314580 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Cleft palate, Micrognathia, Short nose, Anteverted nares, Thin upper lip vermilion |
ORPHA:2015 |
Bilateral Polymicrogyria |
|
Facial diplegia, Wide mouth, Sensorineural hearing impairment, Perisylvian polymicrogyria, Talipe... |
ORPHA:268940 |
Wolf-Hirschhorn Syndrome |
|
Hydrocephalus, Abnormal pinna morphology, Cleft palate, Craniofacial asymmetry, Malrotation of sm... |
OMIM:194190 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
High palate, Dental crowding, Overjet, Sensorineural hearing impairment, Persistence of primary t... |
OMIM:618342 |
German Syndrome |
|
High palate, Everted lower lip vermilion, Dolichocephaly, Depressed nasal bridge, Micrognathia, O... |
ORPHA:2077 |
Robinow Syndrome |
|
Triangular mouth, Broad alveolar ridges, Broad nasal tip, Depressed nasal bridge, Hemivertebrae, ... |
ORPHA:97360 |
Ck Syndrome |
|
High palate, Kyphosis, Malar flattening, Retrognathia, Micrognathia, Scoliosis, Polymicrogyria, H... |
OMIM:300831 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Retrognathia, Depressed nasal bridge, Micrognathia, Microcephaly, Hypoplasia of the ... |
OMIM:618142 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Episodic tachypnea, Retrognathia, Micrognathia, Apneic episodes in infancy, Fronta... |
ORPHA:163961 |
Acrofacial Dysostosis 1, Nager Type |
|
Wide mouth, Hydrocephalus, Cleft palate, Absent thumb, Hypoplasia of the radius, Polymicrogyria, ... |
OMIM:154400 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Miscarriage, Pectus excavatum, Prominent sternum, Absent glenoid fo... |
ORPHA:96334 |
Multiple Pterygium Syndrome, Lethal Type |
|
Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Depressed nasal ridge, Micr... |
OMIM:253290 |
Sandestig-Stefanova Syndrome |
|
High palate, Intrauterine growth retardation, Angulated antihelix, Trigonocephaly, Convex nasal r... |
OMIM:618804 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Microretrognathia, Flexion contracture, Small hand, Scoliosis, Optic atrophy, Ante... |
OMIM:300884 |
Rubinstein-Taybi Syndrome 2 |
|
High palate, Dental malocclusion, Posterior helix pit, Narrow palate, Convex nasal ridge, Intesti... |
OMIM:613684 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Alveolar ridge overgrowth, Sensorineural hearing impairment, Hydrocephalus, Drumstick terminal ph... |
OMIM:612938 |
Baraitser-Winter Syndrome 2 |
|
Wide mouth, Abnormal pinna morphology, Webbed neck, Pachygyria, Retrognathia, Short stature, Shor... |
OMIM:614583 |
Axial Spondylometaphyseal Dysplasia |
|
Mild postnatal growth retardation, Osteopenia, Platyspondyly, Upper limb undergrowth, Disproporti... |
ORPHA:168549 |
Multiple Synostoses Syndrome 1 |
|
Pectus excavatum, Hypoplastic nasal septum, Short sternum, Clinodactyly of the 4th toe, Short phi... |
OMIM:186500 |
Shprintzen-Goldberg Syndrome |
|
Apnea, Gastroesophageal reflux, High, narrow palate, Craniosynostosis, Retrognathia, Micrognathia... |
ORPHA:2462 |
Pierpont Syndrome |
|
Long upper lip, Malar flattening, Everted lower lip vermilion, Thin vermilion border, Abnormal co... |
ORPHA:487825 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Dental malocclusion, Hydrocephalus, Hypodontia, Calvarial hyperostosis, Broad nasal tip, Depresse... |
OMIM:101800 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Sleep apnea, Hydrocephalus, Relative macrocephaly, Cleft palate, Depressed nasal bridge, Microgna... |
ORPHA:459061 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
High palate, Pectus excavatum, Depressed nasal bridge, Hypogonadism, Calcaneovalgus deformity, Pa... |
OMIM:612513 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Wide anterior fontanel, Cleft palate, Anterior plagiocephaly, Depressed nasal bridge... |
ORPHA:163649 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Micromelia, Upper limb undergrowth, Pectus carinatum, Hypoplastic pelvis, Genu val... |
ORPHA:93351 |
Microcephaly-Deafness Syndrome |
|
Everted lower lip vermilion, Micrognathia, Cupped ear, Hearing impairment, Low-set ears |
OMIM:156620 |
Otopalatodigital Syndrome Type 2 |
|
Hydrocephalus, Abnormal pinna morphology, Cleft palate, Depressed nasal bridge, Short nose, Bowin... |
ORPHA:90652 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Hydrocephalus, Metaphyseal... |
OMIM:300863 |
Meier-Gorlin Syndrome 5 |
|
Gastroesophageal reflux, Feeding difficulties, Micrognathia, Microcephaly, Long philtrum, Hypopla... |
OMIM:613805 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
Microphthalmia, Syndromic 2 |
|
Contracture of the proximal interphalangeal joint of the 3rd toe, Radiculomegaly, Broad nasal tip... |
OMIM:300166 |
Eng-Strom Syndrome |
|
Pectus excavatum, Short stature, Camptodactyly of finger, Brachydactyly, Scoliosis, Arthritis, In... |
ORPHA:1937 |
Charge Syndrome |
|
Webbed neck, Aplasia of the semicircular canal, Cleft palate, Tracheoesophageal fistula, Hemivert... |
OMIM:214800 |
Fetal Trimethadione Syndrome |
|
High palate, Depressed nasal bridge, Micrognathia, Microcephaly, Short nose, Brachycephaly, Midfa... |
ORPHA:1913 |
Pontocerebellar Hypoplasia Type 10 |
|
Proptosis, Long palpebral fissure, Long eyelashes, Highly arched eyebrow |
ORPHA:411493 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
High palate, Short neck, Tapered finger, Limb joint contracture, Intrauterine growth retardation,... |
ORPHA:505237 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Cleft palate, Depressed nasal bridge, Short neck, 11 pairs of rib... |
OMIM:108720 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
High palate, Bulbous nose, Persistence of primary teeth, Prominent frontal sinuses, Malar flatten... |
OMIM:170390 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Upper limb ... |
ORPHA:93315 |
Craniosynostosis, Herrmann-Opitz Type |
|
Convex nasal ridge, Cleft palate, Malar flattening, Craniosynostosis, Micrognathia, Short nose, B... |
ORPHA:2145 |
Coffin-Siris Syndrome 6 |
|
Conductive hearing impairment, Kyphoscoliosis, Pectus excavatum, Plagiocephaly, High, narrow pala... |
OMIM:617808 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Tooth agenesis, Abnormality of the dentition, Xerostomia, Cough, Frontal bossing, Hypo... |
ORPHA:238468 |
Marcus-Gunn Syndrome |
|
Cleft palate, Abnormality of the sense of smell, Coloboma, Cleft lip, Abnormal fifth cranial nerv... |
ORPHA:91412 |
Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Clinodactyly of the 5th finger, Short stature, Camptodactyly of fi... |
ORPHA:1836 |
Shashi-Pena Syndrome |
|
Kyphosis, Accelerated skeletal maturation, Retrognathia, Broad nasal tip, Deep palmar crease, Sco... |
OMIM:617190 |
Temple Syndrome |
|
High palate, Hydrocephalus, Cleft palate, Depressed nasal bridge, Short philtrum, Intrauterine gr... |
OMIM:616222 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
High palate, Gingival overgrowth, Clinodactyly of the 5th finger, Pectus excavatum, Bilateral sen... |
OMIM:619422 |
Cohen Syndrome |
|
Gingival overgrowth, Tooth agenesis, Aplasia/Hypoplasia of the tongue, High, narrow palate, Micro... |
ORPHA:193 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
2-3 toe syndactyly, Lumbar hyperlordosis, Butterfly vertebrae, Hyperplasia of the maxilla, Scolio... |
ORPHA:313892 |
Xq28 (MECP2) duplication |
|
Narrow mouth, Constipation, Gastroesophageal reflux, Malar flattening, Depressed nasal bridge, De... |
DECIPHER:45 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
High palate, Depressed nasal bridge, Short neck, Tapered finger, Carious teeth, Trismus, Talipes ... |
OMIM:272430 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... |
ORPHA:174 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Thin vermilion border, Cerebellar vermis hypoplasia, Anteverted nares, Brachycepha... |
ORPHA:1532 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Pectus excavatum, Abnormal rib cage morphology, Short stature, Hemivertebrae, Posterior rib fusio... |
OMIM:608406 |
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities |
|
Delayed skeletal maturation, Wide mouth, Protruding ear, Everted lower lip vermilion, Retrognathi... |
OMIM:619595 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
High palate, Dental malocclusion, Respiratory distress, Micrognathia, Nasogastric tube feeding, C... |
ORPHA:329178 |
Branchiootic Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Cleft palate, Lip pit, Micrognat... |
ORPHA:52429 |
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Anal atresia, Clinodactyly of the 5th finger, Microphthalmia, Microtia, first degree, Micrognathi... |
OMIM:600123 |
Otodental Syndrome |
|
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... |
ORPHA:2791 |
Perlman Syndrome |
|
Low-set ears, Hyperinsulinemia, Abnormal pancreas morphology, High, narrow palate, Broad alveolar... |
ORPHA:2849 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Anal atresia, Intrauterine growth retardation, Clinodactyly of the 5th finger, Microphthalmia, Mi... |
ORPHA:1352 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Kyphosis, Joint contracture of the hand, Everted lower lip vermilion, Retrognathia, Camptodactyly... |
OMIM:300280 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
High palate, Hydrocephalus, Depressed nasal ridge, Depressed nasal bridge, 11 pairs of ribs, Opti... |
OMIM:607872 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
High palate, Hip contracture, Protruding ear, Internally rotated shoulders, Talipes equinovarus, ... |
OMIM:617468 |
Spondylocarpotarsal Synostosis Syndrome |
|
Broad nasal tip, Short neck, Pectus carinatum, Disproportionate short-trunk short stature, Short ... |
OMIM:272460 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Narrow mouth, Narrow palate, Tooth agenesis, Hydrocephalus, Malar flattenin... |
ORPHA:1555 |
Grant Syndrome |
|
Open bite, Depressed nasal bridge, Micrognathia, Frontal bossing, Abnormal palate morphology, Bra... |
ORPHA:2097 |
Subaortic Stenosis--Short Stature Syndrome |
|
Narrow mouth, Malar flattening, Diastema, Short nose, Hypoplasia of the maxilla, Anteverted nares... |
OMIM:271960 |
Branchiooculofacial Syndrome |
|
Malrotation of colon, Cleft palate, Overfolded helix, Broad nasal tip, Depressed nasal bridge, Ab... |
OMIM:113620 |
Zttk Syndrome |
|
High palate, Craniosynostosis, Depressed nasal bridge, Abnormality of the dentition, Short philtr... |
OMIM:617140 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Narrow mouth, High, narrow palate, Cleft palate, Craniosynostosis, Retrogna... |
ORPHA:2554 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal antihelix morphology, Cleft palate, Hemivertebrae, Macrodontia, Mandibular prognathia, P... |
ORPHA:2916 |
Branchioskeletogenital Syndrome |
|
Craniosynostosis, Broad nasal tip, Depressed nasal bridge, Abnormality of the dentition, Short ph... |
ORPHA:1299 |
Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Depressed nasal ridge, Horizontal sacrum, Depressed nasal b... |
OMIM:215140 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, High, narrow palate, Depressed nasal bridge, Micrognathia, Optic atrophy, F... |
OMIM:608799 |
Growth Delay Due To Insulin-Like Growth Factor I Resistance |
|
Pectus excavatum, Short stature, Broad nasal tip, Clinodactyly, Growth delay, Short palm, Delayed... |
ORPHA:73273 |
Yunis-Varon Syndrome |
|
High palate, Absent nipple, Absent thumb, Short philtrum, Congenital hip dislocation, Cutaneous s... |
OMIM:216340 |
Bartsocas-Papas Syndrome 1 |
|
Short metacarpal, Cleft palate, Absent thumb, Short neck, Short nose, Hypoplasia of the maxilla, ... |
OMIM:263650 |
Aarskog-Scott Syndrome |
|
Cleft upper lip, Hypodontia, Cleft palate, Curved linear dimple below the lower lip, Short nose, ... |
OMIM:305400 |
Auriculocondylar Syndrome |
|
Respiratory distress, Dental malocclusion, Narrow mouth, Abnormality of the crus of the helix, Ma... |
ORPHA:137888 |
Weaver Syndrome |
|
Joint stiffness, Talipes equinovarus, Accelerated skeletal maturation, Retrognathia, Micrognathia... |
ORPHA:3447 |
Gomez-Lopez-Hernandez Syndrome |
|
High palate, Wide anterior fontanel, Malar flattening, Craniosynostosis, Thin vermilion border, A... |
OMIM:601853 |
Clark-Baraitser Syndrome |
|
High palate, Wide mouth, Low hanging columella, Dolichocephaly, Depressed nasal bridge, Short phi... |
OMIM:617752 |
Monosomy 18P |
|
Tooth malposition, Cleft palate, Hypodontia, Holoprosencephaly, Micrognathia, Short philtrum, Mic... |
ORPHA:1598 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Proptosis, Highly arched eyebrow |
OMIM:608716 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Wide anterior fontanel, Convex nasal ridge, Retrognathia, Micrognathia, Microcephaly, Brachycepha... |
OMIM:263210 |
Basal Cell Nevus Syndrome |
|
Hydrocephalus, Cleft palate, Hemivertebrae, Down-sloping shoulders, Microphthalmia, Mandibular pr... |
OMIM:109400 |
Craniosynostosis And Dental Anomalies |
|
High palate, Depressed nasal bridge, Delayed eruption of teeth, Broad hallux, Sagittal craniosyno... |
OMIM:614188 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Short stature, Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short middle phalanx... |
OMIM:309620 |
Pseudodiastrophic Dysplasia |
|
Malar flattening, Micrognathia, Frontal bossing, Anteverted nares, Brachycephaly, Midface retrusi... |
OMIM:264180 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Convex nasal ridge, Short stature, Abno... |
ORPHA:2522 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Intrauterine growth retardation, Clinodactyly of the 5th finger, Short stature, Reduced bone mine... |
ORPHA:2370 |
Pontocerebellar Hypoplasia, Type 3 |
|
High palate, High, narrow palate, Cerebral atrophy, Depressed nasal bridge, Long philtrum, Hypopl... |
OMIM:608027 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Plagiocephaly, Feeding difficulties, Micrognathia, Scaphocephaly, Respirato... |
ORPHA:1143 |
Spondylometaphyseal Dysplasia, Axial |
|
Narrow chest, Coxa vara, Narrow greater sciatic notch, Reduced sperm motility, Short stature, Pla... |
OMIM:602271 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Proptosis, Hypertelorism |
OMIM:612247 |
Intellectual Disability, Wolff Type |
|
Short distal phalanx of finger, Bulbous nose, Clinodactyly of the 5th finger, Microretrognathia, ... |
ORPHA:3080 |
Weiss-Kruszka Syndrome |
|
Horizontal crus of helix, Low-set ears, Protruding ear, Clinodactyly of the 5th finger, Microtia,... |
OMIM:618619 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
High palate, Hydrocele testis, Cleft palate, Overfolded helix, Depressed nasal bridge, Short nose... |
OMIM:614080 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Plagiocephaly, Macrocephaly, Gastroesophageal reflux, Low hanging columella, Dolichocephaly, Micr... |
OMIM:619721 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral segmentation defect, Talipes equinovarus, Short thorax, Vertebral fusion, Short long bo... |
OMIM:618845 |
Kbg Syndrome |
|
Cutaneous syndactyly, Short neck, Macrodontia, Single transverse palmar crease, Tented upper lip ... |
OMIM:148050 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Abdominal distention, Intestinal malrotation, Increased size of the mandible, Vomiting, Pyloric s... |
OMIM:300048 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
High palate, Respiratory distress, Gastroesophageal reflux, Cleft palate, Respiratory insufficien... |
OMIM:614399 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Lateral clavicle hook, Mesomelic arm ... |
OMIM:171480 |
Hypoglossia With Situs Inversus |
|
High palate, Respiratory distress, Narrow mouth, Hypodontia, Micrognathia, Feeding difficulties i... |
OMIM:612776 |
Myhre Syndrome |
|
Cleft palate, Short philtrum, Short neck, Cone-shaped epiphysis, Birth length less than 3rd perce... |
OMIM:139210 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short stature, Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger... |
ORPHA:1436 |
Bohring-Opitz Syndrome |
|
Depressed nasal bridge, Tapered finger, Intrauterine growth retardation, Sacral dimple, Cleft upp... |
OMIM:605039 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Trigonocephaly, Malar flattening, Cleft palate, Micrognathia, Microcephaly,... |
OMIM:610536 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Cerebral dysmyelination, Feeding difficulties, Respiratory insufficiency, Central apnea, Death in... |
OMIM:611722 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Cleft palate, Retrognathia, Micrognathia, Microcephaly, Bifid uvula, Mandibular prognathia, Submu... |
ORPHA:2521 |
Pitt-Hopkins Syndrome |
|
Wide mouth, Prominent fingertip pads, Short fourth metatarsal, Short philtrum, Short neck, Tapere... |
OMIM:610954 |
Auriculocondylar Syndrome 2 |
|
Dental malocclusion, Apnea, Narrow mouth, Macrocephaly, Cleft palate, Short mandibular rami, Glos... |
OMIM:614669 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Dislocated radial head, Clinodactyly of the 5th finger, Convex nasal ridge, Short stature, Hypopl... |
OMIM:617604 |
Peho-Like Syndrome |
|
Retrognathia, Polymicrogyria, Optic atrophy, Short nose, Lissencephaly, Open mouth, Pachygyria |
OMIM:617507 |
Asymmetric Short Stature Syndrome |
|
Convex nasal ridge, Micrognathia, Lumbar scoliosis, Fused cervical vertebrae, Asymmetric short st... |
OMIM:108450 |
Branchiogenic-Deafness Syndrome |
|
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Short distal phalanx of... |
OMIM:609166 |
Acromelic Frontonasal Dysostosis |
|
Cleft upper lip, Brachycephaly, U-Shaped upper lip vermilion, Gray matter heterotopia, Cleft pala... |
OMIM:603671 |
Cockayne Syndrome Type 2 |
|
Anodontia, Widely spaced primary teeth, Intrauterine growth retardation, Hypoplasia of the primar... |
ORPHA:90322 |
Achondrogenesis Type 1B |
|
Narrow chest, Severe short stature, Talipes equinovarus, Micrognathia, Short neck, Micromelia, Ab... |
ORPHA:93298 |
Lateral Meningocele Syndrome |
|
High palate, Pectus excavatum, Short neck, Umbilical hernia, High, narrow palate, Dolichocephaly,... |
ORPHA:2789 |
Keratoconus Posticus Circumscriptus |
|
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Brachydac... |
OMIM:244600 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Cleft palate, Overfolded helix, Broad nasal tip, Depressed nasal tip, Depressed nasal bridge, Sho... |
OMIM:618223 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Short 1st metacarpal, Depressed nasal bridge, Monkey wrench f... |
OMIM:251450 |
Orofaciodigital Syndrome Xvii |
|
High, narrow palate, Short stature, Retrognathia, Partial duplication of thumb phalanx, Prominent... |
OMIM:617926 |
Fryns Microphthalmia Syndrome |
|
Abnormality of the ear, Microphthalmia, Abnormality of the vertebral column, Anophthalmia, Neural... |
OMIM:600776 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Micrognathia, Retrognathia, Stenosis of the external auditory canal, Bilateral cond... |
OMIM:615706 |
Craniosynostosis 2 |
|
Supernumerary tooth, Craniosynostosis, Brachyturricephaly, Frontal bossing, Bicoronal synostosis,... |
OMIM:604757 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Abnormal dental enamel morphology, Hydrocephalus, Bulbous nose, Hemivertebrae, ... |
ORPHA:2180 |
15Q Overgrowth Syndrome |
|
High palate, Hydrocephalus, Craniosynostosis, Abnormality of the outer ear, Mandibular prognathia... |
ORPHA:314585 |
Focal Dermal Hypoplasia |
|
Hydrocephalus, Hiatus hernia, Cleft palate, Broad nasal tip, Cleft ala nasi, Congenital hip dislo... |
OMIM:305600 |
Renpenning Syndrome 1 |
|
High palate, Bulbous nose, Pectus excavatum, Cleft palate, Short philtrum, Macrodontia, Microphth... |
OMIM:309500 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Abnormality of the ear, Recurrent otitis media, Prominent fingertip pads, Flexion contracture, Re... |
ORPHA:391372 |
Hallermann-Streiff Syndrome |
|
High palate, Pectus excavatum, Thin calvarium, Optic disc coloboma, Decreased number of sternal o... |
OMIM:234100 |
Andersen-Tawil Syndrome |
|
High palate, Dental crowding, Bulbous nose, Persistence of primary teeth, Micrognathia, Abnormali... |
ORPHA:37553 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia, Joint stiffness, Cupped ear, Short stature |
OMIM:261560 |
Gaucher Disease, Type Ii |
|
Apnea, Cerebral atrophy, Feeding difficulties, Recurrent aspiration pneumonia, Dysphagia, Trismus... |
OMIM:230900 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Short stature, Trident acetabulum, Short ribs, Brachydactyly, Pos... |
OMIM:617405 |
Glossopharyngeal Neuralgia |
|
Mandibular pain, Cranial nerve compression, Tongue pain, Abnormality of the cervical spine, Abnor... |
ORPHA:221098 |
Desmosterolosis |
|
Hydrocephalus, Macrocephaly, Cleft palate, Depressed nasal bridge, Polymicrogyria, Short nose, Ab... |
ORPHA:35107 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Talipes equinovarus, Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused ... |
OMIM:618469 |
Elsahy-Waters Syndrome |
|
High palate, Bulbous nose, Impacted tooth, Delayed eruption of teeth, Hypoplasia of the maxilla, ... |
OMIM:211380 |
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate |
|
Proptosis |
OMIM:601420 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Cleft palate, Feeding difficulties, Intestinal malrotation, Depressed nasal bridge, Micrognathia,... |
ORPHA:404440 |
Cowden Syndrome 5 |
|
High palate, Narrow mouth, Micrognathia, Furrowed tongue, Hypoplasia of the maxilla, Colonic dive... |
OMIM:615108 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Taurodontia, Constipation, Hypodontia, Everted lower lip vermilion, Depress... |
OMIM:305100 |
Meier-Gorlin Syndrome 3 |
|
Narrow mouth, Microretrognathia, Gastroesophageal reflux, Feeding difficulties, Tracheomalacia, M... |
OMIM:613803 |
Weill-Marchesani Syndrome 1 |
|
Narrow palate, Tooth malposition, Depressed nasal bridge, Broad skull, Hypoplasia of the maxilla,... |
OMIM:277600 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Abnormal spaced incisors, Large earlobe, Bulbous nose, Prominent ear helix, Everted lower lip ver... |
ORPHA:411986 |
Mosaic Trisomy 14 |
|
High palate, Wide mouth, Ectopic anus, Narrow chest, Aplasia/Hypoplasia affecting the eye, Cleft ... |
ORPHA:1703 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Apnea, Retrognathia, Depressed nasal bridge, Dolichocephaly, Microcephaly, Hypoplasia of the corp... |
OMIM:617301 |
Van Den Ende-Gupta Syndrome |
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High palate, Dental crowding, Narrow mouth, Convex nasal ridge, High, narrow palate, Malar flatte... |
OMIM:600920 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
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High palate, Accelerated skeletal maturation, Cleft palate, Carious teeth, Genu valgum, Small epi... |
OMIM:618363 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
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Respiratory distress, Narrow mouth, Aplasia/Hypoplasia involving the nose, Holoprosencephaly, Apl... |
ORPHA:990 |
Koolen-De Vries Syndrome |
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Bulbous nose, Pectus excavatum, Cleft palate, Overfolded helix, Abnormality of the dentition, Mic... |
ORPHA:96169 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
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Proptosis, Ectropion |
OMIM:242500 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
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High palate, Bulbous nose, Pectus excavatum, Overfolded helix, Depressed nasal bridge, Short phil... |
OMIM:617061 |
49,Xxxxy Syndrome |
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Asthma, Taurodontia, Constipation, Gastroesophageal reflux, Depressed nasal ridge, Cleft palate, ... |
ORPHA:96264 |
Cleidocranial Dysplasia |
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Sleep apnea, Sinusitis, Macrocephaly, Supernumerary tooth, High, narrow palate, Cleft palate, Ope... |
ORPHA:1452 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
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Respiratory distress, Wide anterior fontanel, Cleft palate, Tracheomalacia, Depressed nasal bridg... |
OMIM:217980 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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High palate, Short nose, Hip subluxation, Cervical C2/C3 vertebral fusion, Tracheomalacia, Microg... |
ORPHA:444077 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
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High palate, Decreased thalamic volume, Retrognathia, Long philtrum, Arthrogryposis multiplex con... |
OMIM:619072 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
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Clinodactyly of the 5th finger, Malar flattening, Retrognathia, Down-sloping shoulders, Brachydac... |
ORPHA:1390 |
Monosomy 5P |
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High palate, Recurrent fractures, Microretrognathia, Finger syndactyly, Short stature, Small hand... |
ORPHA:281 |
Richieri-Costa/Guion-Almeida Syndrome |
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Cleft upper lip, Cleft palate, Malar flattening, Microcephaly, Spina bifida occulta, Mandibular p... |
OMIM:268850 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
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Wide mouth, Cerebral cortical atrophy, Retrognathia, Short philtrum, Microcephaly, Death in infan... |
ORPHA:1194 |
Walker-Warburg Syndrome |
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Low-set ears, Hydrocephalus, Protruding ear, Cleft palate, Pachygyria, Anophthalmia, Bifid uvula,... |
ORPHA:899 |
Tetrasomy 5P |
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High palate, Respiratory distress, Wide anterior fontanel, Hydrocephalus, Macrocephaly, Micrognat... |
ORPHA:3309 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Torticollis, Narrow mouth, Plagiocephaly, Cyst of the ductus choledochus, Dolichocephaly, Broad n... |
OMIM:619480 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
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Kyphosis, Pachygyria, Scoliosis, Hyperlordosis, Shoulder girdle muscle weakness, Facial palsy, Ve... |
OMIM:606612 |
2P15P16.1 Microdeletion Syndrome |
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High palate, Pectus excavatum, Tapered finger, Optic atrophy, Sandal gap, Hypogonadism, Intrauter... |
ORPHA:261349 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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High palate, Wide mouth, Bulbous nose, Plagiocephaly, Macroglossia, Depressed nasal bridge, Downt... |
ORPHA:369891 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
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Micrognathia, Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:228940 |
Warburg Micro Syndrome 3 |
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Narrow palate, Cerebral cortical atrophy, Micrognathia, Microcephaly, Polymicrogyria, Hypoplasia ... |
OMIM:614222 |
Smith-Magenis Syndrome |
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Constipation, Cleft palate, Depressed nasal bridge, Short philtrum, Short nose, Tented upper lip ... |
ORPHA:819 |
Oculoauriculofrontonasal Syndrome |
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Narrow mouth, Macrocephaly, Cleft palate, Encephalocele, Micrognathia, Microcephaly, Bifid nasal ... |
ORPHA:398156 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
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Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Distal ulnar epiphyseal stippl... |
OMIM:609616 |
Cleft Palate-Lateral Synechia Syndrome |
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Narrow mouth, Cleft palate, Everted lower lip vermilion, Micrognathia, Oral synechia |
ORPHA:2016 |
Spondylometaphyseal Dysplasia, X-Linked |
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Enlarged joints, Kyphosis, Sclerosis of skull base, Hip contracture, Severe short stature, Hypere... |
OMIM:313420 |
Cebalid Syndrome |
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High palate, Plagiocephaly, Depressed nasal ridge, Platystencephaly, Dolichocephaly, Depressed na... |
OMIM:618774 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
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Joint stiffness, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies... |
ORPHA:2064 |
Distal 17P13.1 Microdeletion Syndrome |
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High palate, Retrognathia, Microcephaly, Hypoplasia of the zygomatic bone, Unilateral polymicrogy... |
ORPHA:319171 |
Schaaf-Yang Syndrome |
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Tapered finger, Narrow palm, Open mouth, Rocker bottom foot, Hypogonadism, Mandibular prognathia,... |
OMIM:615547 |
Pseudoachondroplasia |
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Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
Dworschak-Punetha Neurodevelopmental Syndrome |
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Large earlobe, Depressed nasal bridge, Cupped ear, Short neck, Peripheral axonal neuropathy, Micr... |
OMIM:619955 |
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation |
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Thick upper lip vermilion, Cleft palate, Abnormality of the dentition, Short philtrum, Mandibular... |
OMIM:226440 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Pectus excavatum, Mild postnatal growth retardation, Depressed nasal bridge, Delayed eruption of ... |
OMIM:235510 |
Sifrim-Hitz-Weiss Syndrome |
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Low-set ears, Short clavicles, Short stature, Hypogonadotropic hypogonadism, Cupped ear, Bifid uv... |
OMIM:617159 |
Cerebrofaciothoracic Dysplasia |
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Cleft upper lip, Wide mouth, Rib fusion, Sprengel anomaly, Narrow chest, Bifid ribs, Cleft palate... |
ORPHA:1394 |
Warsaw Breakage Syndrome |
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High palate, Wide mouth, 2-3 toe syndactyly, Cupped ear, Optic disc coloboma, Single transverse p... |
OMIM:613398 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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High palate, Bulbous nose, Convex nasal ridge, Prominence of the premaxilla, Depressed nasal brid... |
OMIM:614437 |
Pelvis-Shoulder Dysplasia |
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Hydrocephalus, Abnormal pinna morphology, Cleft palate, Absent proximal finger flexion creases, T... |
ORPHA:2839 |
Frontometaphyseal Dysplasia 1 |
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Craniosynostosis, Increased density of long bone diaphyses, Delayed eruption of teeth, Genu valgu... |
OMIM:305620 |
Insulin-Like Growth Factor I, Resistance To |
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High palate, Pectus excavatum, Sandal gap, Delayed skeletal maturation, Intrauterine growth retar... |
OMIM:270450 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
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Prominent sternum, Broad nasal tip, Depressed nasal bridge, Short neck, Platyspondyly, Optic disc... |
OMIM:300232 |
Cowden Syndrome 6 |
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High palate, Narrow mouth, Micrognathia, Furrowed tongue, Hypoplasia of the maxilla, Colonic dive... |
OMIM:615109 |
Lowry-Maclean Syndrome |
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Convex nasal ridge, Cleft palate, Craniosynostosis, Microcephaly, Delayed eruption of teeth |
OMIM:600252 |
Juberg-Hayward Syndrome |
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Abnormality of finger, Severe short stature, Hypoplasia of the radius, Scoliosis, Radioulnar syno... |
ORPHA:2319 |
Basilicata-Akhtar Syndrome |
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Abnormal pinna morphology, Precocious puberty, Adducted thumb, Retrognathia, Dolichocephaly, Shor... |
OMIM:301032 |
Muenke Syndrome |
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High palate, Dental malocclusion, Plagiocephaly, Macrocephaly, Malar flattening, Coronal craniosy... |
OMIM:602849 |
Familial Visceral Myopathy |
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Abdominal distention, Cleft palate, Micrognathia, Microcephaly, Umbilical hernia, Anteverted nare... |
ORPHA:2604 |
6Q16 Microdeletion Syndrome |
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Bulbous nose, Microtia, Retrognathia, Depressed nasal bridge, Micrognathia, Tapered finger, Abnor... |
ORPHA:171829 |
Oculocerebrodental Syndrome |
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Abnormality of the dentition, Depressed nasal bridge, Microdontia, Hypoplasia of the capital femo... |
ORPHA:557003 |
Wieacker-Wolff Syndrome, Female-Restricted |
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U-Shaped upper lip vermilion, Microretrognathia, Cleft palate, Feeding difficulties, Microcephaly... |
OMIM:301041 |
Split Lower Lip |
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Abnormality of the dentition, Narrow maxilla, Lower lip pit, Abnormality of lower lip |
OMIM:183400 |
Fibrochondrogenesis 2 |
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Malar flattening, Micrognathia, Protuberant abdomen, Short nose, Anteverted nares, Midface retrusion |
OMIM:614524 |
Ritscher-Schinzel Syndrome 1 |
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Anal atresia, Hydrocephalus, Cleft palate, Depressed nasal bridge, Micrognathia, Prominent occipu... |
OMIM:220210 |
Lethal Recessive Chondrodysplasia |
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Respiratory distress, Micrognathia, Macroglossia |
ORPHA:1423 |
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance |
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Bulbous nose, Short toe, Cryptorchidism, Short stature, Retrognathia, Broad nasal tip, Postnatal ... |
OMIM:612947 |
Robinow Syndrome, Autosomal Dominant 1 |
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High palate, Pectus excavatum, Triangular mouth, Depressed nasal bridge, Short neck, Duplication ... |
OMIM:180700 |
Agnathia-Otocephaly Complex |
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Respiratory distress, Narrow mouth, Cleft palate, Tracheomalacia, Holoprosencephaly, Micrognathia... |
OMIM:202650 |
Achondrogenesis, Type Ib |
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Abdominal distention, Malar flattening, Respiratory insufficiency, Umbilical hernia, Stillbirth |
OMIM:600972 |
Silver-Russell Syndrome 3 |
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Cryptorchidism, Short stature, Retrognathia, Finger clinodactyly, Syndactyly, Patent ductus arter... |
OMIM:616489 |
Congenital Muscular Dystrophy, Ullrich Type |
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Abnormal palate morphology, Micrognathia, Respiratory failure |
ORPHA:75840 |
Oculocerebrocutaneous Syndrome |
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Orbital encephalocele, Gray matter heterotopia, Cleft palate, Cleft ala nasi, Congenital hip disl... |
OMIM:164180 |
Cleft Palate, Isolated |
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Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |