| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Orofacial Cleft 11 |
|
Cleft palate, Cleft lip |
OMIM:600625 |
| Palatopharyngeal Incompetence |
|
Cleft palate, Velopharyngeal insufficiency |
OMIM:167500 |
| Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
| Pierre Robin Syndrome |
|
Cor pulmonale, Pierre-Robin sequence, Micrognathia, Feeding difficulties in infancy, Upper airway... |
OMIM:261800 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
| Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
| Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
| Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
| Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Nasogastric tube feeding in infancy, Aspiration pneumonia, Gastrostomy tube feeding in infancy, T... |
ORPHA:141152 |
| Bifid Uvula |
|
Submucous cleft soft palate, Bifid uvula, Cleft lip |
ORPHA:99771 |
| Isolated Pierre Robin Syndrome |
|
Neonatal respiratory distress, Cleft palate, Upper airway obstruction, Glossoptosis |
ORPHA:718 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Retrognathia, Mandibular aplasia, Depressed nasal ridge, Micrognathia, Gingival fibromatosis, Res... |
ORPHA:1832 |
| Bowen-Conradi Syndrome |
|
Camptodactyly of finger, Prominent nose, Ventriculomegaly, Death in infancy, Micrognathia, Feedin... |
ORPHA:1270 |
| 9q subtelomeric deletion syndrome |
|
Protruding tongue, Abnormal heart morphology, Short nose |
DECIPHER:52 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Knee flexion contracture, Unilateral wrist flexion contracture, Ventriculomegaly, Micrognathia, P... |
OMIM:616531 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
| Myasthenic Syndrome, Congenital, 8 |
|
Respiratory insufficiency, High palate |
OMIM:615120 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Chronic bronchitis, Diarrhea, Bronchiectasis, Malabsorption, Micrognathia, Macroglossia, Short no... |
OMIM:242860 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Lethal Congenital Contracture Syndrome 3 |
|
Respiratory insufficiency, Neonatal death |
OMIM:611369 |
| Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Pierre-Robin sequence, Micrognathia, Short distal phalanx of finger, Cleft palate, Glossoptosis |
OMIM:311895 |
| Pallister-Hall-Like Syndrome |
|
Short ribs, Anterior hypopituitarism, Micrognathia, Death in infancy, Hydrocephalus, Pulmonary hy... |
OMIM:241800 |
| 17Q21.31 Microduplication Syndrome |
|
High palate, Micrognathia, Short philtrum, Short nose, Anteverted nares, Malar flattening, Abnorm... |
ORPHA:217340 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Retrognathia, Camptodactyly of finger, Abnormal lung lobation, Pulmonary hypoplasia, Mesomelia, T... |
ORPHA:2631 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Retrognathia, Knee flexion contracture, Distal arthrogryposis, Flexion contracture, High palate, ... |
OMIM:617468 |
| Microphthalmia, Syndromic 12 |
|
Retrognathia, Ventricular septal defect, Wide nasal bridge, Micrognathia, Hypoplastic left atrium... |
OMIM:615524 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Camptodactyly of finger, Gastroesophageal reflux, Ventriculomegaly, Optic atrophy, Death in infan... |
ORPHA:1495 |
| Auriculocondylar Syndrome 2 |
|
Dental malocclusion, Mandibular condyle hypoplasia, Temporomandibular joint ankylosis, Micrognath... |
OMIM:614669 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Micrognathia, Short nose, Thin upper lip vermilion, Anteverted nares, Cleft palate |
ORPHA:2015 |
| Glaucoma-Sleep Apnea Syndrome |
|
Respiratory insufficiency, Sleep apnea |
ORPHA:2085 |
| Tonne-Kalscheuer Syndrome |
|
Convex nasal ridge, Prominent nose, Wide nasal bridge, Widely spaced teeth, Decreased testicular ... |
OMIM:300978 |
| Congenital Velopharyngeal Incompetence |
|
Abnormal palate morphology, Velopharyngeal insufficiency |
ORPHA:2291 |
| Tongue, Pigmented Fungiform Papillae Of |
|
Abnormality of the tongue |
OMIM:275250 |
| Catel-Manzke Syndrome |
|
Camptodactyly of finger, Ventriculomegaly, Ventricular septal defect, Micrognathia, Oral synechia... |
ORPHA:1388 |
| Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
High palate, Prominent nose, Death in infancy, Micrognathia, Epiphyseal stippling, Feeding diffic... |
OMIM:614882 |
| Spinal Muscular Atrophy, Type I |
|
Tongue fasciculations, Respiratory insufficiency, Respiratory failure, Death in childhood |
OMIM:253300 |
| Achondrogenesis Type 1A |
|
Long philtrum, Short foot, Recurrent fractures, Aplasia/Hypoplasia of the lungs, Micrognathia, Ab... |
ORPHA:93299 |
| Atelosteogenesis, Type Ii |
|
Respiratory insufficiency, Death in infancy, Micrognathia, Pulmonary hypoplasia, Depressed nasal ... |
OMIM:256050 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Cleft palate, Ankyloglossia, Bifid uvula |
OMIM:303400 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate |
OMIM:119300 |
| Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Respiratory failure |
OMIM:208081 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Retrognathia, Ventricular septal defect, Bifid uvula, Hydrocephalus, Hypertrophic cardiomyopathy,... |
OMIM:612938 |
| Marshall-Smith Syndrome |
|
Retrognathia, Increased susceptibility to fractures, Ventriculomegaly, Optic atrophy, Craniosynos... |
ORPHA:561 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
High palate, Optic atrophy, Death in infancy, Micrognathia, Respiratory distress, Short nose, Thi... |
OMIM:615042 |
| Agnathia-Otocephaly Complex |
|
Wide nose, Mandibular aplasia, Micrognathia, Secundum atrial septal defect, Pulmonary hypoplasia,... |
OMIM:202650 |
| Pierre Robin Syndrome And Oligodactyly |
|
Cleft palate, Pierre-Robin sequence |
OMIM:172880 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft lip, Tooth agenesis, Cleft palate |
ORPHA:1074 |
| Raine Syndrome |
|
Microdontia, Micrognathia, Increased bone mineral density, Pulmonary hypoplasia, Cleft palate, Gi... |
OMIM:259775 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory insufficiency, Apnea, Respiratory failure, Death in infancy |
OMIM:613869 |
| 14Q11.2 Microdeletion Syndrome |
|
High palate, Long philtrum, Deep philtrum, Ventricular septal defect, Micrognathia, Short nose, E... |
ORPHA:261120 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cardiomegaly, Flexion contracture, Ventriculomegaly, Wide nasal bridge, Short ribs, Ventricular s... |
OMIM:616897 |
| Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Open mouth, Downturned corners of mouth, Protruding tongue, Smooth philtrum |
OMIM:618732 |
| Stickler Syndrome Type 1 |
|
Long philtrum, Mitral valve prolapse, Short nose, Hypoplasia of the maxilla, Joint hyperflexibili... |
ORPHA:90653 |
| Perching Syndrome |
|
Rod-cone dystrophy, High palate, Camptodactyly, Respiratory distress, Depressed nasal bridge, Dys... |
OMIM:617055 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Retrognathia, High palate, Micrognathia, Cryptorchidism, Respiratory failure, Feeding difficultie... |
OMIM:611890 |
| Maxillonasal Dysplasia |
|
Abnormal nostril morphology, Mandibular prognathia, Depressed nasal ridge, Microdontia, Short nos... |
ORPHA:1248 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism, Mandibular prognathia, Contractures of the large joints, Abnormal atrioventricula... |
ORPHA:324410 |
| Developmental And Epileptic Encephalopathy 80 |
|
High palate, Long philtrum, Wide nasal bridge, Wide mouth, Death in infancy, Micrognathia, Ventri... |
OMIM:618580 |
| Kleefstra Syndrome 1 |
|
Gastroesophageal reflux, Tracheobronchomalacia, Mandibular prognathia, Conotruncal defect, Natal ... |
OMIM:610253 |
| Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
| Primary Pulmonary Hypoplasia |
|
Pneumothorax, Abnormal breath sound, Patellar hypoplasia, Asthma, Micrognathia, Secundum atrial s... |
ORPHA:2257 |
| Periodontal Ehlers-Danlos Syndrome |
|
Periodontitis, Microdontia, Premature loss of primary teeth, Atrophy of alveolar ridges, Microgna... |
ORPHA:75392 |
| Blomstrand Lethal Chondrodysplasia |
|
Aplastic clavicle, Long philtrum, Natal tooth, Short ribs, Rhizomelia, Micrognathia, Short metaca... |
ORPHA:50945 |
| Teebi Hypertelorism Syndrome 1 |
|
Sagittal craniosynostosis, Long philtrum, Wide nasal bridge, Natal tooth, Small hand, Micrognathi... |
OMIM:145420 |
| Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Tongue fasciculations, Respiratory insufficiency, Respiratory failure, Death in childhood |
OMIM:616081 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Patent foramen ovale, Long philtrum, Wide nasal bridge, Ventriculomegaly, Prominent nasal bridge,... |
OMIM:619179 |
| Congenital Myopathy 14 |
|
Knee flexion contracture, Flexion contracture, High palate, Hip contracture, Death in infancy, El... |
OMIM:618414 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Respiratory insufficiency, Wide nose, Retrognathia, Gastroesophageal reflux, Death in infancy, Pe... |
OMIM:608779 |
| Diaphanospondylodysostosis |
|
Respiratory insufficiency, Absent in utero ossification of vertebral bodies, Depressed nasal ridg... |
OMIM:608022 |
| Non-Distal Trisomy 10Q |
|
Convex nasal ridge, High palate, Micrognathia, Short nose, Everted lower lip vermilion, Depressed... |
ORPHA:1695 |
| Nemaline Myopathy 9 |
|
Respiratory insufficiency, High palate, Ventricular septal defect, Micrognathia, Cleft palate, Ar... |
OMIM:615731 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Central apnea, Respiratory failure, Death in infancy |
OMIM:611722 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Respiratory insufficiency, Flexion contracture, Wide nasal bridge, Short ribs, Micrognathia, Hydr... |
ORPHA:1865 |
| Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Short ribs, Hypoplasia of the radius, Abnormal foot bone ossification, Pulmon... |
OMIM:200600 |
| 20P12.3 Microdeletion Syndrome |
|
Long philtrum, Wide nasal bridge, Ventriculomegaly, Atrial septal defect, Hypoplasia of the maxil... |
ORPHA:261295 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Respiratory insufficiency, 11 pairs of ribs, Congenital laryngeal stridor, Wide nasal bridge, Hyp... |
OMIM:618356 |
| Hypoglossia With Situs Inversus |
|
High palate, Hypodontia, Micrognathia, Feeding difficulties in infancy, Respiratory distress, Mal... |
OMIM:612776 |
| Peho-Like Syndrome |
|
Retrognathia, Ventriculomegaly, Optic atrophy, Short nose, Feeding difficulties, Open mouth |
OMIM:617507 |
| Multiple Pterygium Syndrome, X-Linked |
|
Increased susceptibility to fractures, Cleft upper lip, Flexion contracture, Vertebral fusion, De... |
OMIM:312150 |
| Fetal Akinesia Deformation Sequence |
|
Respiratory insufficiency, Camptodactyly of finger, Multiple joint contractures, Micrognathia, Pu... |
ORPHA:994 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect, Glossoptosis, Death in infancy |
OMIM:614876 |
| Achondrogenesis Type 2 |
|
Pierre-Robin sequence, Abnormal bone ossification, Short ribs, Delayed vertebral ossification, Ab... |
ORPHA:93296 |
| Acrocallosal Syndrome |
|
Everted upper lip vermilion, Wide nasal bridge, Optic atrophy, Abnormal cardiac septum morphology... |
OMIM:200990 |
| Gaucher Disease, Perinatal Lethal |
|
Retrognathia, Hepatic failure, Everted upper lip vermilion, Ventriculomegaly, Micrognathia, Pulmo... |
OMIM:608013 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in adolescence |
OMIM:300717 |
| Mulibrey Nanism |
|
Wide nose, Dental malocclusion, Enamel hypoplasia, Cardiomegaly, Ventriculomegaly, Wide nasal bri... |
OMIM:253250 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect, Wide mouth, Short nose, Delayed eruption of permanent teeth, Anteverte... |
OMIM:618506 |
| Robin Sequence-Oligodactyly Syndrome |
|
Micrognathia, Hand oligodactyly, Cleft palate, Glossoptosis, Abnormality of the dentition |
ORPHA:3104 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Retrognathia, Ventriculomegaly, Poor suck, Episodic tachypnea, Micrognathia, Apneic episodes in i... |
ORPHA:163961 |
| Cleft Velum |
|
Aspiration pneumonia, Cleft soft palate, Poor suck, Velopharyngeal insufficiency, Hypoplasia of t... |
ORPHA:99772 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Underdeveloped nasal alae, Retrognathia, Convex nasal ridge, Flexion contracture, Micrognathia, A... |
OMIM:263210 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Convex nasal ridge, Short 5th metacarpal, Short middle phalanx of the 5th finger, Short middle ph... |
OMIM:156510 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
High palate, Death in childhood, Ventricular septal defect, Dysphagia, Micrognathia, Epiphyseal s... |
OMIM:214100 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Retrognathia, Feeding difficulties in infancy, Short nose, Broad nasal tip, Malar flattening, Ope... |
OMIM:613670 |
| Sandestig-Stefanova Syndrome |
|
Retrognathia, Convex nasal ridge, High palate, Ventriculomegaly, Wide nasal bridge, Perimembranou... |
OMIM:618804 |
| Frontonasal Dysplasia 1 |
|
Wide nasal bridge, Hypoplastic frontal sinuses, Joint contracture of the hand, Bifid nose, Campto... |
OMIM:136760 |
| Cleft Palate, Isolated |
|
Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
| Icf Syndrome |
|
Malabsorption, Micrognathia, Communicating hydrocephalus, Macroglossia, Depressed nasal bridge, P... |
ORPHA:2268 |
| Craniofacial-Deafness-Hand Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Short nose... |
ORPHA:1529 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Respiratory insufficiency, Wide nasal bridge, Micrognathia, Pulmonary hypoplasia, Micromelia, Nar... |
OMIM:224410 |
| Genitopatellar Syndrome |
|
Wide nose, Knee flexion contracture, Gastroesophageal reflux, Prominent nose, Long philtrum, Pate... |
ORPHA:85201 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Short 5th finger, High palate, Small hand, Short nose, Short foot, Macrodontia |
OMIM:300577 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Retrognathia, Ventricular septal defect, Wide mouth, Prominent nasal bridge, Diastema, Everted lo... |
OMIM:212066 |
| Kagami-Ogata Syndrome |
|
Pulmonary arterial hypertension, Retrognathia, Flexion contracture, Long philtrum, Ventricular se... |
OMIM:608149 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Retrognathia, High palate, Ventriculomegaly, Optic atrophy, Respirator... |
OMIM:615330 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Respiratory tract infection, Flexion contracture, High palate, Ventriculomegaly, Wide nasal bridg... |
OMIM:218000 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Depressed nasal rid... |
OMIM:253290 |
| Qazi-Markouizos Syndrome |
|
High, narrow palate, Prominent nasal bridge, Chronic constipation, Delayed ossification of carpal... |
ORPHA:3010 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
High palate, Wide nasal bridge, Wide mouth, Submucous cleft hard palate, Joint hypermobility, Pro... |
OMIM:618106 |
| Lethal Congenital Contracture Syndrome 11 |
|
Retrognathia, Pulmonary hypoplasia |
OMIM:617194 |
| Odontochondrodysplasia 1 |
|
Dentinogenesis imperfecta, Long philtrum, Short metacarpal, Delayed eruption of teeth, Death in i... |
OMIM:184260 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Convex nasal ridge, Abnormal mitral valve morphology, Micrognathia, Abnormal palate morphology, T... |
ORPHA:1277 |
| Bencze Syndrome |
|
Submucous cleft hard palate, Open bite |
ORPHA:1241 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Osteolysis, Broad nasal tip, Short distal phalanx of finger, Abnormali... |
ORPHA:2776 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Hypoventilation, High palate, Aspiration pneumonia, Deep philtrum, Micrognathia, Feeding difficul... |
ORPHA:314655 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Cleft palate, Bifid uvula, Submucous cleft hard palate |
ORPHA:2521 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Gastroesophageal reflux, Mandibular prognathia, Ventricular septal defect, Poor suck, Perimembran... |
OMIM:301040 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Patent foramen ovale, Flexion contracture, High palate, Secundum atrial septal defect, Pulmonary ... |
OMIM:616866 |
| Hypomandibular Faciocranial Dysostosis |
|
Choanal stenosis, Coronal craniosynostosis, Micrognathia, Atrial septal defect, Hypoplasia of the... |
OMIM:241310 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Wide mouth, Widely spaced teeth, Micrognathia, Respiratory distress, Feeding difficulties |
OMIM:300934 |
| Mandibulofacial Dysostosis With Alopecia |
|
Delayed eruption of primary teeth, Wide nasal bridge, Micrognathia, Bicuspid aortic valve, Dental... |
OMIM:616367 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Wide nasal bridge, Pulmonary hypoplasia, Smooth philtrum, Patent foramen ovale, Double outlet rig... |
OMIM:618316 |
| Achondrogenesis |
|
Long philtrum, Abnormal enchondral ossification, Aplasia/Hypoplasia of the lungs, Micrognathia, S... |
ORPHA:932 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Hypoplastic frontal sinuses, Abnormal cardiac septum morphology, Microgn... |
ORPHA:90652 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respiration |
OMIM:618328 |
| Cleft Lip/Palate |
|
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Poor suck, Agen... |
ORPHA:199306 |
| Odontochondrodysplasia |
|
Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth, Death in infancy, Respiratory... |
ORPHA:166272 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Retrognathia, High palate, Chronic bronchitis, Diarrhea, Short nose, Depressed nasal bridge, Recu... |
OMIM:614069 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory insufficiency, Respiratory failure, High palate, Respiratory distress, Restrictive ve... |
OMIM:614399 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Mandibular prognathia, High palate, Ventriculomegaly, Prominent crus of helix, Joint hypermobilit... |
OMIM:617804 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Mandibular prognathia, Poor suck, Wide mouth, Widely spaced teeth, Protruding tongue, Dysphagia, ... |
ORPHA:98795 |
| Primary Ciliary Dyskinesia |
|
Ventriculomegaly, Bronchiectasis, Productive cough, Airway obstruction, Wheezing, Double outlet r... |
ORPHA:244 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Gastroesophageal reflux, Hypoventilat... |
ORPHA:258 |
| Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate |
OMIM:137215 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Retrognathia, Respiratory failure, Optic atrophy, Choroideremia, Wide mouth, Microdontia, Abnorma... |
ORPHA:2707 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Wide nasal bridge, Abnormal lip mo... |
ORPHA:2759 |
| Alg3-Cdg |
|
Cardiomyopathy, High palate, Abnormal uvula morphology, Pulmonary hypoplasia, Macroglossia, Osteo... |
ORPHA:79321 |
| Developmental And Epileptic Encephalopathy 100 |
|
Enamel hypoplasia, Bilateral camptodactyly, Gastroesophageal reflux, High palate, Small hand, Ven... |
OMIM:619777 |
| Fetal Akinesia Deformation Sequence 2 |
|
Respiratory insufficiency, Flexion contracture, High palate, Wide nasal bridge, Micrognathia, Fee... |
OMIM:618388 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Everted lower lip vermilion, Cleft palate, Oral synechia, Narrow mouth |
ORPHA:2016 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Depressed nasal ridge, Wide nasal bridge, Abnormal cardiac septum morphology, Prominence of the p... |
ORPHA:2412 |
| Lethal Recessive Chondrodysplasia |
|
Micrognathia, Macroglossia, Respiratory distress, Generalized osteosclerosis, Limb undergrowth, M... |
ORPHA:1423 |
| Tetrasomy 5P |
|
Pulmonary arterial hypertension, High palate, Long philtrum, Wide nasal bridge, Micrognathia, Hyd... |
ORPHA:3309 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatic failure, High palate, Ventriculomegaly, Wide nasal bridge, Death in infancy, Ventricular ... |
OMIM:235255 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
High palate, Long philtrum, Micrognathia, Bilateral cryptorchidism, Joint laxity, Short nose, Thi... |
OMIM:613544 |
| Variant Abeta2M Amyloidosis |
|
Intestinal perforation, Pathologic fracture, Cardiac amyloidosis, Abnormal salivary gland morphol... |
ORPHA:314652 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue fasciculations, Respiratory failure, Tongue atrophy |
OMIM:613435 |
| Autosomal Recessive Amelia |
|
Non-midline cleft lip, Abnormal cardiac septum morphology, Aplasia/Hypoplasia of the lungs, Micro... |
ORPHA:1027 |
| Lujan-Fryns Syndrome |
|
Camptodactyly of finger, Macroorchidism, High palate, Micrognathia, Short philtrum, Atrial septal... |
ORPHA:776 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Long philtrum, Wide nasal bridge, Ventriculomegaly, Micrognathia, Hydrocephalus, Unilambdoid syno... |
OMIM:618577 |
| Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Patent foramen ovale, Ventricular septal defect, Optic atrophy, Atrial septal defect, ... |
OMIM:614261 |
| Lowry-Maclean Syndrome |
|
Midgut malrotation, Talon cusp, Retrognathia, Convex nasal ridge, Short nasal bridge, Delayed eru... |
ORPHA:2409 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Cleft palate, Bifid uvula, Death in infancy |
OMIM:258320 |
| Auriculocondylar Syndrome |
|
Difficulty in tongue movements, Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia,... |
ORPHA:137888 |
| Angelman Syndrome |
|
Mandibular prognathia, Wide mouth, Widely spaced teeth, Feeding difficulties in infancy, Macroglo... |
OMIM:105830 |
| Fontaine Progeroid Syndrome |
|
Respiratory insufficiency, Convex nasal ridge, Pneumothorax, Recurrent aspiration pneumonia, Micr... |
OMIM:612289 |
| Whistling Face Syndrome, Recessive Form |
|
Underdeveloped nasal alae, Knee flexion contracture, High palate, Long philtrum, Micrognathia, El... |
OMIM:277720 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
| Fryns Syndrome |
|
Non-midline cleft lip, Ventriculomegaly, Wide nasal bridge, Ectopic anus, Abnormal cardiac septum... |
ORPHA:2059 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Pulmonary arterial hypertension, Retrognathia, Mandibular prognathia, Flexion contracture, Promin... |
ORPHA:391372 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Gastroesophageal reflux, High palate, Pierre-Robin sequence, Wide nasal bridge, Micrognathia, Bul... |
OMIM:613604 |
| Microcephaly-Micromelia Syndrome |
|
Wide nose, Short tibia, Absent thumb, Convex nasal ridge, Aqueductal stenosis, Humeroradial synos... |
OMIM:251230 |
| Platyspondylic Dysplasia, Torrance Type |
|
Short foot, Pulmonary hypoplasia, Abdominal distention, Depressed nasal bridge, Malar flattening,... |
ORPHA:85166 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Dental malocclusion, Contractures of the large joints, High palate, Optic atrophy, Deep philtrum,... |
ORPHA:329178 |
| Cleft Lip With Or Without Cleft Palate |
|
Non-midline cleft lip, Submucous cleft of soft and hard palate, Chronic sinusitis, Median cleft l... |
ORPHA:1991 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Gastroesophageal reflux, Optic atrophy, Wide mouth, Micrognathia, Short nose, Thin upper lip verm... |
OMIM:615419 |
| Marden-Walker Syndrome |
|
High palate, Long philtrum, Joint contracture of the hand, Micrognathia, Pyloric stenosis, Campto... |
OMIM:248700 |
| Intestinal Dysmotility Syndrome |
|
Decreased intestinal transit time, High palate, Diarrhea, Projectile vomiting, Abdominal distenti... |
OMIM:620045 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Retrognathia, Prenatal death, High palate, Wide nasal bridge, Micrognathia, Cam... |
OMIM:618393 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Wide mouth, Short philtrum, Short nose, Everted lower lip vermilion, Thin ... |
ORPHA:2429 |
| Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Convex nasal ridge, Aplasia/Hypoplasia of the lungs, Micrognathia, Short nose, Micromelia, Cleft ... |
ORPHA:2145 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Wide nasal bridge, Widely spaced teeth, Short metacarpal, Retinal pigment epithelial mottling, Re... |
OMIM:617102 |
| Edinburgh Malformation Syndrome |
|
Respiratory insufficiency, Micrognathia, Hydrocephalus, Short nose, Downturned corners of mouth, ... |
ORPHA:1895 |
| 3C Syndrome |
|
Atrioventricular canal defect, Ventriculomegaly, Wide nasal bridge, Optic atrophy, Ectopic anus, ... |
ORPHA:7 |
| Angelman Syndrome Due To A Point Mutation |
|
Mandibular prognathia, Poor suck, Wide mouth, Widely spaced teeth, Protruding tongue, Dysphagia, ... |
ORPHA:411511 |
| Melanocytic Nevus Syndrome, Congenital |
|
Long philtrum, Deep philtrum, Narrow nasal ridge, Prominence of the premaxilla, Short nose, Evert... |
OMIM:137550 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, High palate, Long philtrum, Short nose |
ORPHA:2598 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Wide nasal bridge, Micrognathia, Short philtrum, Respiratory distress, Feeding difficulties, Thin... |
ORPHA:261304 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Respiratory insufficiency, Short tibia, Bifid tongue, Hypoplastic facial bones, Pulmonary hypopla... |
OMIM:616300 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Wide nasal bridge, Delayed eruption of teeth, Micrognathia, Camptodactyly, P... |
OMIM:619148 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Flexion contracture, High palate, Long philtrum, Wide nasal bridge, Optic atrophy, Ventriculomega... |
OMIM:619383 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Respiratory insufficiency, Convex nasal ridge, Optic atrophy, Hydrocephalus, Hypoplasia of the ma... |
ORPHA:93262 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Conotruncal defect, Ventriculomegaly, Abnormal testis morphology, Abnormal cardiac septum morphol... |
ORPHA:96147 |
| Periventricular Nodular Heterotopia 7 |
|
Knee flexion contracture, Pierre-Robin sequence, Ventricular septal defect, Micrognathia, Dental ... |
OMIM:617201 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence |
OMIM:192445 |
| Achondrogenesis Type 1B |
|
Long philtrum, Abnormal enchondral ossification, Aplasia/Hypoplasia of the lungs, Micrognathia, S... |
ORPHA:93298 |
| Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Knee flexion contracture, Hyperextensibility at wrists, Flexion contracture, Increased laxity of ... |
ORPHA:75840 |
| Burn-Mckeown Syndrome |
|
Wide nasal bridge, Abnormal cardiac septum morphology, Short nose, Bilateral choanal atresia, Abn... |
ORPHA:1200 |
| Split-Hand/Foot Malformation 3 |
|
High palate, Camptodactyly, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Cleft palate |
OMIM:246560 |
| Cohen Syndrome |
|
Convex nasal ridge, Decreased response to growth hormone stimulation test, Macrodontia of permane... |
OMIM:216550 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Retrognathia, Camptodactyly of finger, Flexion contracture, Wide mouth, Death in infancy, Abnorma... |
ORPHA:1194 |
| Chung-Jansen Syndrome |
|
High palate, Long philtrum, Micrognathia, Short philtrum, Short nose, Joint hypermobility, Anteve... |
OMIM:617991 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Abnormal oral cavity morphology, Depressed nasal ridge, Short nose, Narrow mouth, Anteverted nares |
ORPHA:1355 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Long philtrum, Microretrognathia, Short nose, Abnormal palate morphology, Recurrent respiratory i... |
ORPHA:1389 |
| Hypomandibular Faciocranial Dysostosis |
|
Choanal stenosis, Aplasia/Hypoplasia of the tongue, Recurrent respiratory infections, Death in in... |
ORPHA:1790 |
| Coffin-Lowry Syndrome |
|
Ventriculomegaly, Optic atrophy, Delayed eruption of teeth, Feeding difficulties in infancy, Ever... |
ORPHA:192 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Ventriculomegaly, Multiple joint contractures, Abnormality of the tong... |
ORPHA:370968 |
| Auriculocondylar Syndrome 1 |
|
Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia, Dental crowding, Ankylosis, Apn... |
OMIM:602483 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Vertebral hypoplasia, Stippling of the epiphyses of the distal phalanges of the hand, Epiphyseal ... |
ORPHA:79345 |
| Eosinophilia, Familial |
|
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia |
OMIM:131400 |
| Lethal Congenital Contracture Syndrome 10 |
|
Convex nasal ridge, High palate, Hypoplasia of the thymus, Narrow palate, Long philtrum, Ventricu... |
OMIM:617022 |
| Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Cleft upper lip, Long philtrum, Wide nasal bridge, Delayed eruption of t... |
ORPHA:915 |
| Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion, Short nose, Short columella, Depressed nasal bridge, Short distal phalanx of... |
OMIM:155050 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Long philtrum, Micrognathia, Cleft palate, Malar flattening, Glossoptosis, Osteoarthritis |
ORPHA:166100 |
| Immunodeficiency 95 |
|
Respiratory failure, Respiratory distress, Recurrent viral pneumonia |
OMIM:619773 |
| Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Optic atrophy, Death in infancy, Micrognathia, Feeding difficulties in infancy, Depressed nasal b... |
OMIM:618766 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Long philtrum, Ventricular septal defect, Short ribs, Hypoplasia of the radius, Pulmonary hypopla... |
OMIM:617895 |
| 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 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Micrognathia, Atrial septal defect, Short nose, Hypoplasia of the maxilla, Accessory oral frenulu... |
ORPHA:79113 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Microdontia, Micrognathia, Short distal phalanx of toe, Short nose, Atrial septal defect, Narrow ... |
OMIM:619356 |
| Facial Paresis, Hereditary Congenital, 3 |
|
High palate, Micrognathia, Short philtrum, Short nose, Downturned corners of mouth, Depressed nas... |
OMIM:614744 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Pulmonary hypoplasia, Hypertrophic cardiomyopathy, Cardiomegaly, Feeding diffic... |
OMIM:614096 |
| Oculofaciocardiodental Syndrome |
|
Abnormal cardiac septum morphology, Delayed eruption of teeth, Feeding difficulties in infancy, P... |
ORPHA:2712 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gastrostomy tube feeding in infancy, Wide mouth, Depressed nasal bridge, Protruding tongue, Antev... |
OMIM:618797 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Mandibular prognathia, Poor suck, Wide mouth, Limitation of movement at ankles, Widely spaced tee... |
ORPHA:98794 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal respiratory system phys... |
ORPHA:266 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Poor suck, Micrognathia, Dilated cardiomyopathy, Respiratory distress, Respiratory insufficiency ... |
OMIM:300580 |
| Perlman Syndrome |
|
Retrognathia, Wide nasal bridge, Broad alveolar ridges, Micrognathia, Abnormal upper lip morpholo... |
ORPHA:2849 |
| Crouzon Syndrome |
|
Respiratory insufficiency, Convex nasal ridge, Narrow palate, Optic atrophy, Hydrocephalus, Hypop... |
ORPHA:207 |
| Meckel Syndrome, Type 8 |
|
Cleft upper lip, Depressed nasal ridge, Pericardial effusion, Abdominal distention, Short nose, C... |
OMIM:613885 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Deep philtrum, Thick lower lip vermilion, Hydrocephalus, Short nose, Hypertrophic cardiomyopathy,... |
ORPHA:2701 |
| Okur-Chung Neurodevelopmental Syndrome |
|
High palate, Wide nasal bridge, Micrognathia, Joint hypermobility, Thin upper lip vermilion, Prot... |
OMIM:617062 |
| Down Syndrome |
|
Narrow palate, Depressed nasal ridge, Thick lower lip vermilion, Microdontia, Aganglionic megacol... |
ORPHA:870 |
| Orofaciodigital Syndrome Xix |
|
Underdeveloped nasal alae, Lobulated tongue, Retrognathia, Narrow palate, Cleft soft palate, Wide... |
OMIM:620107 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, High palate, Chronic constipation, Hypoplasia of the maxilla, Prominent na... |
OMIM:300676 |
| Pierpont Syndrome |
|
Wide nose, Short toe, Short foot, Prominent median palatal raphe, Widely spaced teeth, Short fing... |
OMIM:602342 |
| Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
| Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia, Pulmonary hypoplasia, Arthrogryposis multiplex congenita |
OMIM:601809 |
| Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Short philtrum, Camptodactyly, Atrial septal defect, Protruding tongue... |
OMIM:300963 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Choanal stenosis, Narrow nasal ridge, Pulmonary hypoplasia, Microretrognathia, Anteverted nares, ... |
OMIM:236500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macroorchidism, Flexion contracture, High palate, Ventricular septal defect, Deep philtrum, Hyper... |
OMIM:309520 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Knee flexion contracture, Wrist flexion contracture, Flexion contracture, Hip contracture, Microg... |
ORPHA:1143 |
| Al Amyloidosis |
|
Abnormal pulmonary interstitial morphology, Macroglossia, Abdominal distention, Gastroparesis, Hy... |
ORPHA:85443 |
| Cofs Syndrome |
|
Camptodactyly of finger, Wide nasal bridge, Optic atrophy, Abnormal nasal morphology, Micrognathi... |
ORPHA:1466 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Wide nasal bridge, Long philtrum, Micrognathia, Bicuspid aortic valve, Camptod... |
OMIM:618529 |
| Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Micrognathia, Bifid uvula, Pulmonary hypoplasia, Abnormal oral frenulum ... |
ORPHA:2753 |
| Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth |
OMIM:216300 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Respiratory insufficiency, Depressed nasal ridge, Aplasia/Hypoplasia of the lungs, Micrognathia, ... |
ORPHA:1046 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal cardiac septum morphology, Short nose, Narrow mouth, Thin vermilion border, Reduced bone... |
ORPHA:2370 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Long philtrum, Wide nasal bridge, Truncus arteriosus, Ventricular septal defect, Joint laxity, At... |
ORPHA:401935 |
| Tarp Syndrome |
|
Short sternum, Pierre-Robin sequence, Wide nasal bridge, Optic atrophy, Abnormal duodenum morphol... |
ORPHA:2886 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Knee flexion contracture, Retinopathy, Upper limb undergrowth, Small hand, Abnormal macular morph... |
OMIM:608799 |
| Nager Syndrome |
|
Respiratory insufficiency, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Wide mouth, Ab... |
ORPHA:245 |
| Pfeiffer Syndrome |
|
Choanal stenosis, Mandibular prognathia, High palate, Short middle phalanx of toe, Humeroradial s... |
OMIM:101600 |
| Glutamine Deficiency, Congenital |
|
Neonatal death, Flexion contracture, Wide nasal bridge, Lateral ventricle dilatation, Camptodacty... |
OMIM:610015 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Narrow palate, Depressed nasal ridge, Wide nasal bridge, Deep philtrum, Se... |
ORPHA:99843 |
| Dental Anomalies And Short Stature |
|
Mandibular prognathia, Widely spaced teeth, Microdontia, Oligodontia, Mitral valve prolapse, Hypo... |
OMIM:601216 |
| Cardioacrofacial Dysplasia 1 |
|
Conical tooth, Atrioventricular canal defect, Overhanging nasal tip, Short philtrum, Diastema, Hy... |
OMIM:619142 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Cleft upper lip, High palate, Ventriculomegaly, Deep philtrum, Widely spaced teeth, Ventricular s... |
OMIM:612530 |
| Adducted Thumbs Syndrome |
|
Respiratory insufficiency, High palate, Velopharyngeal insufficiency, Cleft palate, High, narrow ... |
OMIM:201550 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory insufficiency, Knee flexion contracture, Hip contracture, Wide nasal bridge, Hyperext... |
OMIM:313420 |
| Congenital Sialidosis Type 2 |
|
Respiratory tract infection, Optic atrophy, Hydrocephalus, Hypoplasia of the fovea, Protruding to... |
ORPHA:93400 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Retrognathia, High palate, Death in infancy, Bilateral cryptorchidism, Respiratory distress, Join... |
OMIM:300219 |
| Van Der Woude Syndrome 2 |
|
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate |
OMIM:606713 |
| Diarrhea 12, With Microvillus Atrophy |
|
Respiratory tract infection, Vomiting, Villous atrophy, Bronchiectasis, Dependency on parenteral ... |
OMIM:619445 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Hypoplasia of the thymus, Wide nasal bridge, Micrognathia, Pulmonary hypoplasia, Peripheral pulmo... |
OMIM:613177 |
| Short-Rib Thoracic Dysplasia 12 |
|
Respiratory insufficiency, Pulmonary hypoplasia, Median cleft lip, Limb undergrowth, Short palm, ... |
OMIM:269860 |
| Marshall Syndrome |
|
Thick upper lip vermilion, High palate, Long philtrum, Wide nasal bridge, Hypoplastic frontal sin... |
ORPHA:560 |
| Baker-Gordon Syndrome |
|
Gastroesophageal reflux, Prominent nasal tip, Joint laxity, Short nose, Thin upper lip vermilion,... |
OMIM:618218 |
| Mesomelic Limb Shortening And Bowing |
|
Retrognathia, Mesomelic leg shortening, Camptodactyly of finger, Micrognathia, Cleft palate, Meso... |
OMIM:249710 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Wide nasal bridge, Short metacarpal, Capitate-hamate fusion, Micrognathia, Coronal cra... |
OMIM:614078 |
| Adenylosuccinate Lyase Deficiency |
|
Long philtrum, Short nose, Thin upper lip vermilion, Anteverted nares, Smooth philtrum |
ORPHA:46 |
| Lowry-Maclean Syndrome |
|
Convex nasal ridge, Delayed eruption of teeth, Abnormal heart morphology, Cleft palate, Craniosyn... |
OMIM:600252 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Lobulated tongue, Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation, Short... |
OMIM:613443 |
| Fetal Trimethadione Syndrome |
|
High palate, Ventricular septal defect, Micrognathia, Atrial septal defect, Short nose, Depressed... |
ORPHA:1913 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Deep philtrum, Esophageal atresia, Micrognathia, Feeding difficulties ... |
OMIM:610536 |
| Rhiny |
|
Thin vermilion border, Anteverted nares, Short nose |
OMIM:180360 |
| Stuve-Wiedemann Syndrome 1 |
|
Respiratory insufficiency, Short tibia, Micrognathia, Elbow flexion contracture, Camptodactyly, P... |
OMIM:601559 |
| Tetraamelia Syndrome 2 |
|
Hypoplastic pulmonary veins, Ventricular septal defect, Bilateral lung agenesis, Bilateral cleft ... |
OMIM:618021 |
| Osteolysis Syndrome, Recessive |
|
Knee flexion contracture, Elbow flexion contracture, Hypoplasia of the maxilla, Metacarpal osteol... |
OMIM:259610 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Feeding difficulties in infancy, ... |
ORPHA:226313 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Short toe, High palate, Pierre-Robin sequence, Long philtrum, Short 5th metacar... |
OMIM:617877 |
| Treacher Collins Syndrome 4 |
|
Choanal stenosis, Micrognathia, Feeding difficulties in infancy, Malar flattening, Respiratory fa... |
OMIM:618939 |
| Neuralgic Amyotrophy |
|
Respiratory insufficiency, Cleft palate, Narrow mouth |
ORPHA:2901 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Optic atrophy, Microdontia, Micrognathia, Abnormal optic disc morphology, Short hallux, Short pal... |
ORPHA:363417 |
| Laryngeal Abductor Paralysis |
|
Respiratory insufficiency |
ORPHA:2808 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Respiratory insufficiency, High palate, Feeding difficulties in infancy, Joint laxity, Pulmonary ... |
OMIM:255320 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
High palate, Micrognathia, Feeding difficulties in infancy, Short philtrum, Everted lower lip ver... |
ORPHA:1387 |
| Teebi Hypertelorism Syndrome 2 |
|
High palate, Delayed eruption of teeth, Microdontia, Short nose, Everted lower lip vermilion, Thi... |
OMIM:619736 |
| Arthrogryposis, Distal, Type 2E |
|
Distal arthrogryposis, Foot joint contracture, Joint contracture of the hand, Micrognathia, Narro... |
OMIM:121070 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, High palate, Decreased testicular size, Hypoplasia of the maxilla, Crypt... |
ORPHA:85279 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Wide nasal bridge, Microdontia, Hypodontia, Hydrocephalus, Short philtrum,... |
OMIM:601499 |
| Mosaic Trisomy 1 |
|
Short upper lip, Camptodactyly of finger, Ventricular septal defect, Wide nasal bridge, Wide mout... |
ORPHA:1692 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Respiratory insufficiency, Median cleft palate |
ORPHA:2432 |
| Acrodysostosis |
|
Short toe, Mandibular prognathia, Depressed nasal ridge, Wide nasal bridge, Delayed eruption of t... |
ORPHA:950 |
| Ring Chromosome 8 Syndrome |
|
Abnormal palate morphology, Anteverted nares, Short nose |
ORPHA:1450 |
| Ring Chromosome 22 Syndrome |
|
Pleural effusion, Wide nasal base, Protruding tongue, Bulbous nose, Thick vermilion border |
ORPHA:1446 |
| 8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Abnormal nostril morphology, Long philtrum, Wide nasal bridge, Depressed... |
ORPHA:178303 |
| Distal Tetrasomy 15Q |
|
Retrognathia, Flexion contracture, High palate, Micrognathia, Hydrocephalus, Camptodactyly, Hydro... |
ORPHA:314588 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Tongue fasciculations, Respiratory failure, Joint laxity |
OMIM:600561 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Mandibular prognathia, Short nose, Joint hypermobility, Tented upper lip vermilio... |
OMIM:300143 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Long philtrum, Nausea and vomiting, Feeding difficulties in infancy, Short nose, Abnormal pattern... |
ORPHA:833 |
| Amish Lethal Microcephaly |
|
Ventriculomegaly, Cleft soft palate, Optic atrophy, Death in infancy, Micrognathia, Limitation of... |
ORPHA:99742 |
| Ohdo Syndrome |
|
Long philtrum, Wide nasal bridge, Widely spaced teeth, Micrognathia, Feeding difficulties in infa... |
OMIM:249620 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory insufficiency, Multiple joint contractures, Microdontia, Micrognathia, Pulmonary hypo... |
ORPHA:536467 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Gastroesophageal reflux, Wide mouth, Protruding tongue, Hyperventilation, Constipation, Feeding d... |
OMIM:614325 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Abnormality of the philtrum, High palate, Wide nasal bridge, Delayed eru... |
ORPHA:2863 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Gastroesophageal reflux, High palate, Long philtrum, Micrognathia, Pulmonary hypop... |
OMIM:614080 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Decreased response to growth hormone stimulation test, Long philtrum, Wide nasal bridge, Short no... |
OMIM:616430 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Respiratory insufficiency, Abnormal lower lip morphology, Ventricular septal defect, Micrognathia... |
ORPHA:1166 |
| Neu-Laxova Syndrome |
|
Retrognathia, Abnormality of the philtrum, Flexion contracture, Depressed nasal ridge, Ventriculo... |
ORPHA:2671 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Long philtrum, Wide nasal bridge, Ventriculomegaly, Apneic episodes precipitated by illness, fati... |
OMIM:312170 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Long philtrum, Micrognathia, Hydrocephalus, Radioulnar synostosis, Short nose, Short columella, D... |
ORPHA:171839 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Long philtrum, Abnormal bone ossification, Micrognathia, Increased bone mineral dens... |
ORPHA:163649 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Wide nose, Patent foramen ovale, Abnormal retinal morphology, Wide nasal bridge, Respiratory dist... |
ORPHA:89844 |
| Chromosome 22Q11.2 Duplication Syndrome |
|
Micrognathia, Velopharyngeal insufficiency, High palate, Depressed nasal ridge |
OMIM:608363 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Cleft palate, Micrognathia, Ventriculomegaly, Arthrogryposis multiplex congenita |
OMIM:616570 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Dyspnea, Cough, Respiratory failure, Respiratory failure requiring assisted... |
ORPHA:90117 |
| Atelosteogenesis Type I |
|
Absent or minimally ossified vertebral bodies, Rhizomelia, Micrognathia, Abnormal pancreatic duct... |
ORPHA:1190 |
| Acromegaloid Facial Appearance Syndrome |
|
Short 5th metacarpal, Deep philtrum, Micrognathia, Joint hypermobility, Bulbous nose, Thick nasal... |
OMIM:102150 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Apnea, Neonatal death, Pulmonary hypoplasia |
OMIM:615228 |
| Radio-Renal Syndrome |
|
Retrognathia, Convex nasal ridge, Hypoplasia of the radius, Micrognathia, Respiratory distress, P... |
ORPHA:3015 |
| Hyperekplexia 4 |
|
Respiratory failure, High palate |
OMIM:618011 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Rhizomelia, Fixed elbow flexion, Micrognathia, Broad nasal tip, Cleft h... |
ORPHA:166016 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Long philtrum, Short nose, Thin upper lip vermilion, Depressed nasal bridge, Smooth philtrum, Dan... |
ORPHA:438178 |
| Congenital Tracheomalacia |
|
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hypoplasia, ... |
ORPHA:95430 |
| Orofaciodigital Syndrome Type 5 |
|
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... |
ORPHA:2919 |
| Intermediate Nemaline Myopathy |
|
Flexion contracture, Long philtrum, Multiple prenatal fractures, Dysphagia, Respiratory failure, ... |
ORPHA:171433 |
| Congenital Myopathy 17 |
|
Respiratory insufficiency, Dental malocclusion, Respiratory tract infection, Mandibular prognathi... |
OMIM:618975 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Wide nasal bridge, Death in infancy, Micrognathia, Atrial septal defect, Narrow mouth, Cleft pala... |
ORPHA:93946 |
| Atelosteogenesis Type Ii |
|
Micrognathia, Elbow flexion contracture, Camptodactyly, Pulmonary hypoplasia, Short femur, Limb u... |
ORPHA:56304 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Long philtrum, Atrial septal defect, Sh... |
OMIM:300887 |
| Van Der Woude Syndrome |
|
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
| Alg9-Cdg |
|
Convex nasal ridge, Diarrhea, Pericardial effusion, Micrognathia, Abnormal left ventricular outfl... |
ORPHA:79328 |
| Tetrasomy 12P |
|
Thick upper lip vermilion, Long philtrum, Delayed eruption of teeth, Anal atresia, Short nose, Ev... |
ORPHA:884 |
| Skraban-Deardorff Syndrome |
|
Thick upper lip vermilion, Ventriculomegaly, Ventricular septal defect, Widely spaced teeth, Micr... |
OMIM:617616 |
| Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy |
OMIM:615348 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Sagittal craniosynostosis, Plantar flexion contracture, Wide nasal bridge, Episodic tachypnea, Te... |
ORPHA:2872 |
| Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Hypoplasia of the radius, Micrognathia, Abnormal l... |
ORPHA:958 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Vomiting, Feeding difficulties in infancy, Pyloric stenosis... |
OMIM:300048 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent foramen ovale, Respiratory failure, Flexion contracture, Pulmonary hypoplasia, Multiple pr... |
OMIM:616867 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Tongue fasciculations, Respiratory insufficiency, Respiratory distress, Feeding difficulties in i... |
ORPHA:238329 |
| Pycnodysostosis |
|
Convex nasal ridge, Micrognathia, Increased bone mineral density, Increased susceptibility to fra... |
ORPHA:763 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Dental malocclusion, Cleft soft palate, Long philtrum, Wide mouth, Calvarial osteosclerosis, Micr... |
OMIM:616331 |
| Scedosporiosis |
|
Bronchitis, Endocarditis, Septic arthritis, Osteomyelitis, Pleural empyema, Pleuritis, Abnormal j... |
ORPHA:449280 |
| Crisponi Syndrome |
|
Respiratory insufficiency, Wide nose, Camptodactyly of finger, Flexion contracture, High palate, ... |
ORPHA:1545 |
| Martsolf Syndrome 1 |
|
Short toe, Cardiomyopathy, Enlarged sylvian cistern, High palate, Long philtrum, Short metacarpal... |
OMIM:212720 |
| Angelman Syndrome |
|
Gastroesophageal reflux, Mandibular prognathia, Vomiting, Gastrostomy tube feeding in infancy, Wi... |
ORPHA:72 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Pierre-Robin sequence, Abnormal cardiac septum morphology, Micrognathia, Respiratory distress, Tr... |
OMIM:217980 |
| Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Long philtrum, Short nose, Central diabetes insipidus, Osteopenia |
OMIM:125700 |
| Thanatophoric Dysplasia |
|
Respiratory insufficiency, Ventriculomegaly, Hydrocephalus, Pulmonary hypoplasia, Atrial septal d... |
ORPHA:2655 |
| Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Underdeveloped nasal alae, High palate, Wide nasal bridge, Micrognathia, Joint contracture of the... |
OMIM:248910 |
| Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Short mandibular rami, Tongue atrophy, Delayed eruption of teeth |
OMIM:141300 |
| Baraitser-Winter Syndrome 1 |
|
Retrognathia, Cleft upper lip, Long philtrum, Wide nasal bridge, Wide mouth, Ventriculomegaly, Bi... |
OMIM:243310 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Contractures of the large joints, Ventricular septal defect, Optic atro... |
ORPHA:3078 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Narrow maxilla, High palate, Ventricular septal defect, Repeated pneumothoraces, Chronic constipa... |
OMIM:617602 |
| Cerebrofacioarticular Syndrome |
|
Irregular dentition, Gastrostomy tube feeding in infancy, Bilateral choanal atresia/stenosis, Wid... |
ORPHA:314679 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Wide nasal bridge, Cleft palate, Feeding difficulties, Abnormal rectum morphology, Short toe, Hyd... |
OMIM:239300 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Pulmonary hypoplasia, Neonatal respiratory distress, Neonatal de... |
OMIM:619003 |
| Crouzon Syndrome |
|
Sagittal craniosynostosis, Mandibular prognathia, High palate, Optic atrophy, Coronal craniosynos... |
OMIM:123500 |
| Degcags Syndrome |
|
Ventriculomegaly, Micrognathia, Smooth philtrum, Feeding difficulties, Pneumonia, Intestinal atre... |
OMIM:619488 |
| X-Linked Intellectual Disability, Porteous Type |
|
Hypoplasia of the maxilla, Bulbous nose, Mandibular prognathia, Short philtrum |
ORPHA:93945 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Flexion contracture, High palate, Rhizomelia, Wide nasal bridge, Micrognathia, Epiphyseal stippli... |
OMIM:222765 |
| Bronchopulmonary Dysplasia |
|
Central apnea, Hyperoxemia, Pulmonary sequestration, Tracheobronchomalacia, Abnormal respiratory ... |
ORPHA:70589 |
| Keipert Syndrome |
|
Hypoplasia of the maxilla, Depressed nasal bridge, Short hallux, Short distal phalanx of finger, ... |
ORPHA:2662 |
| Achondrogenesis, Type Ib |
|
Respiratory insufficiency, Absent or minimally ossified vertebral bodies, Short ribs, Abdominal d... |
OMIM:600972 |
| Distal Trisomy 18Q |
|
Camptodactyly of finger, High palate, Micrognathia, Abnormality of dental morphology, Short nose,... |
ORPHA:1716 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory insufficiency, Rod-cone dystrophy, Wide nasal bridge, Retinal atrophy, Apnea, Respira... |
OMIM:610127 |
| Distal Xq28 Microduplication Syndrome |
|
Patent foramen ovale, High palate, Short lingual frenulum, Thick lower lip vermilion, Asthma, Epi... |
ORPHA:293939 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft palate, Bifid uvula, Cleft soft palate, Unilateral cleft lip |
ORPHA:2736 |
| Carey-Fineman-Ziter Syndrome 2 |
|
Underdeveloped nasal alae, Long philtrum, Abnormal nasal septum morphology, Micrognathia, Velopha... |
OMIM:619941 |
| Joubert Syndrome 1 |
|
Neonatal breathing dysregulation, Optic disc pallor, Episodic tachypnea, Retinal dystrophy, Macro... |
OMIM:213300 |
| Asbestos Intoxication |
|
Myocardial fibrosis, Oxygen desaturation on exertion, Pleural thickening, Decreased DLCO, Nonprod... |
ORPHA:2302 |
| Vitamin K Antagonist Embryofetopathy |
|
Respiratory insufficiency, Optic atrophy, Hydrocephalus, Epiphyseal stippling, Macroglossia, Shor... |
ORPHA:1914 |
| Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency |
OMIM:617732 |
| Trehalase Deficiency |
|
Vomiting, Diarrhea, Malabsorption, Abdominal pain, Abdominal distention |
ORPHA:103909 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Short toe, Abnormal mandible morphology, Short 4th metacarpal, Hypodonti... |
ORPHA:3201 |
| Apert Syndrome |
|
Respiratory insufficiency, Aplasia/Hypoplasia of the thumb, Convex nasal ridge, Narrow palate, Ma... |
ORPHA:87 |
| Stickler Syndrome, Type Ii |
|
Pierre-Robin sequence, Micrognathia, Bifid uvula, Joint hypermobility, Depressed nasal bridge, An... |
OMIM:604841 |
| Czeizel-Losonci Syndrome |
|
High palate, Micrognathia, Hydrocephalus, Pulmonary hypoplasia, Tracheoesophageal fistula, Dextro... |
ORPHA:2437 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Conical tooth, Cleft upper lip, Nasogastric tube feeding in infancy, Ventricular septal defect, W... |
OMIM:106260 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, High palate, Microdontia, Microretrognathia, Hypoplasia of the m... |
ORPHA:1307 |
| Congenital Hypothyroidism |
|
Abnormal pericardium morphology, Depressed nasal ridge, Optic atrophy, Anterior hypopituitarism, ... |
ORPHA:442 |
| Moebius Syndrome |
|
Abnormal nasopharynx morphology, High palate, Aplasia/Hypoplasia involving the metacarpal bones, ... |
OMIM:157900 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Short tibia, Natal tooth, Absent nasal bridge, Short ribs, Micrognathia, Pulm... |
OMIM:617925 |
| Gm1-Gangliosidosis, Type Ii |
|
Thin bony cortex, Ventriculomegaly, Optic atrophy, Hypoplastic vertebral bodies, Protruding tongu... |
OMIM:230600 |
| Meckel Syndrome 14 |
|
Retrognathia, Pneumothorax, Micrognathia, Pulmonary hypoplasia, Microretrognathia, Abdominal dist... |
OMIM:619879 |
| 17P13.3 Microduplication Syndrome |
|
Wide nose, High palate, Ventriculomegaly, Short nose, Narrow mouth |
ORPHA:217385 |
| Mohr Syndrome |
|
Lobulated tongue, Bifid tongue, High palate, Tongue nodules, Micrognathia, Hydrocephalus, Median ... |
OMIM:252100 |
| Birk-Barel Syndrome |
|
High palate, Bifid uvula, Short philtrum, Submucous cleft soft palate, Tented upper lip vermilion |
OMIM:612292 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatic failure, High palate, Ventriculomegaly, Ventricular septal defect, Micrognathia, Pulmonar... |
ORPHA:1655 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Patent foramen ovale, Mandibular prognathia, High palate, Ventricular septal defect, Wide nasal b... |
ORPHA:369891 |
| Peho Syndrome |
|
Flexion contracture, Ventriculomegaly, Optic atrophy, Hydrocephalus, Abnormal upper lip morpholog... |
ORPHA:2836 |
| Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Ventricular hypertrophy, Patent foramen ovale, Long philtrum, Rhizomelia, Death in infancy, Hypop... |
OMIM:602613 |
| Ciliary Dyskinesia, Primary, 5 |
|
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:608647 |
| Fetal Alcohol Syndrome |
|
Non-midline cleft lip, Microdontia, Micrognathia, Atrial septal defect, Short nose, Thin upper li... |
ORPHA:1915 |
| Acromicric Dysplasia |
|
Long philtrum, Short metacarpal, Small hand, Thick lower lip vermilion, Joint stiffness, Short no... |
ORPHA:969 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Nasogastric tube feeding in infancy, High palate, Poor suck, Ventilator dependence with inability... |
ORPHA:254864 |
| Primary Effusion Lymphoma |
|
Pericardial effusion, Abdominal pain, Abdominal distention, Pleural effusion, Dyspnea |
ORPHA:48686 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Alveolar process hypoplasia, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphol... |
ORPHA:2972 |
| Autosomal Dominant Omodysplasia |
|
Rhizomelia, Long philtrum, Short 1st metacarpal, Micrognathia, Short nose, Depressed nasal bridge... |
ORPHA:93328 |
| 1Q41Q42 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Submucous cleft hard palate, Pulmonary hypoplasia, Depressed nasal bri... |
ORPHA:250999 |
| Fibrochondrogenesis 1 |
|
Patent foramen ovale, Long philtrum, Short foot, Short ribs, Rhizomelia, Small hand, Joint contra... |
OMIM:228520 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, High palate, Long philtrum, Micrognathia, Abnormal aortic valve morpholo... |
ORPHA:2990 |
| Microphthalmia, Syndromic 9 |
|
Respiratory insufficiency, Agenesis of pulmonary vessels, Wide nasal bridge, Bilateral lung agene... |
OMIM:601186 |
| Mosaic Trisomy 14 |
|
Camptodactyly of finger, High palate, Wide nasal bridge, Ectopic anus, Wide mouth, Micrognathia, ... |
ORPHA:1703 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge |
OMIM:618302 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Retrognathia, High palate, Long philtrum, Wide nasal bridge, Ventricular septal defect, Micrognat... |
OMIM:617061 |
| Non-Distal Trisomy 13Q |
|
High palate, Long philtrum, Micrognathia, Short nose, Everted lower lip vermilion, Cryptorchidism... |
ORPHA:1702 |
| Adult-Onset Nemaline Myopathy |
|
Neuromuscular dysphagia, Flexion contracture, High palate, Micrognathia, Dilated cardiomyopathy, ... |
ORPHA:171442 |
| Pfeiffer Syndrome Type 2 |
|
High palate, Short foot, Small hand, Aqueductal stenosis, Hydrocephalus, Anal atresia, Tracheomal... |
ORPHA:93259 |
| Faciocardiomelic Dysplasia, Lethal |
|
Retrognathia, Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasia of the ulna, N... |
OMIM:227270 |
| 16P12.1P12.3 Triplication Syndrome |
|
Retrognathia, Decreased response to growth hormone stimulation test, Long philtrum, Wide mouth, S... |
ORPHA:485405 |
| Kleefstra Syndrome |
|
Ventriculomegaly, Delayed eruption of teeth, Supernumerary nipple, Everted lower lip vermilion, P... |
ORPHA:261494 |
| Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Anterior hypopituitarism, Micrognathia, Abnormal palate morphology, C... |
ORPHA:2022 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory insufficiency, Flexion contracture, Multiple joint contractures, Micrognathia, Elbow ... |
ORPHA:536471 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cor pulmonale, Desquamative interstitial pneumonitis, Respiratory distress, Recurrent upper respi... |
OMIM:263000 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Underdeveloped nasal alae, Depressed nasal ridge, Wide nasal bridge, Deep philtrum, Micrognathia,... |
ORPHA:77300 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Underdeveloped nasal alae, Truncus arteriosus, Ventricular septal defect, Micrognathia, Abnormal ... |
ORPHA:2516 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Left ventricular hypertrophy, Pulmonary hypoplasia, Respiratory distress, Fe... |
OMIM:616733 |
| Juvenile Sialidosis Type 2 |
|
Optic atrophy, Protruding tongue, Abnormal heart morphology, Dysphagia, Gingival overgrowth, Cher... |
ORPHA:93399 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Respiratory insufficiency, Flexion contracture, Ventriculomegaly, Abnormal cardiac septum morphol... |
OMIM:254940 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Gastroesophageal reflux, Distal arthrogryposis, High palate, Ventriculomegaly, Optic atrophy, Dee... |
OMIM:619833 |
| Codas Syndrome |
|
Ventricular septal defect, Short metacarpal, Delayed eruption of teeth, Abnormality of dental mor... |
ORPHA:1458 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Aqueductal stenosis, Micrognathia, Pulmonary hypoplasia, Lower limb undergrowth, Intestinal malro... |
ORPHA:3035 |
| Cohen Syndrome |
|
Aplasia/Hypoplasia of the tongue, Ventricular septal defect, Optic atrophy, High, narrow palate, ... |
ORPHA:193 |
| Aarskog-Scott Syndrome |
|
Cleft upper lip, Short 5th finger, Short foot, Wide nasal bridge, Hyperextensibility of the finge... |
OMIM:305400 |
| Schneckenbecken Dysplasia |
|
Advanced ossification of carpal bones, Short ribs, Short nose, Limb undergrowth, Stillbirth, Adva... |
OMIM:269250 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Underdeveloped nasal alae, Dental malocclusion, Long philtrum, Macrodontia of permanent maxillary... |
OMIM:257850 |
| Clark-Baraitser Syndrome |
|
High palate, Long philtrum, Wide mouth, Short philtrum, Short nose, Thin upper lip vermilion, Dow... |
OMIM:617752 |
| Tetraploidy |
|
Convex nasal ridge, Radial club hand, Aplasia/Hypoplasia of the lungs, Micrognathia, Short philtr... |
ORPHA:3305 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Dental malocclusion, Short toe, Mandibular prognathia, High palate, Abno... |
ORPHA:1327 |
| Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... |
ORPHA:1972 |
| Cornelia De Lange Syndrome 2 |
|
Gastroesophageal reflux, High palate, Small hand, Ventriculomegaly, Limited elbow movement, Micro... |
OMIM:300590 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Underdeveloped nasal alae, Abnormal oral cavity morphology, Wide nasal bridge, Micrognathia, Hydr... |
ORPHA:1516 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Long philtrum, Wide nasal bridge, Deep philtrum, Microretrognathia, Short nose, Downturned corner... |
OMIM:618571 |
| Pde4D Haploinsufficiency Syndrome |
|
Short toe, Short metatarsal, Mandibular prognathia, Prominent nose, Long philtrum, Upper limb und... |
ORPHA:439822 |
| Myopathy, Centronuclear, 5 |
|
Respiratory insufficiency, Retrognathia, High palate, Hip contracture, Micrognathia, Bifid uvula,... |
OMIM:615959 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Absent nares, Aplasia/Hypoplasia involving the nose, Mandibular aplasia, Respiratory distress, Na... |
ORPHA:990 |
| Arthrogryposis Multiplex Congenita 6 |
|
Respiratory failure, Neonatal death, Death in childhood, Death in infancy |
OMIM:619334 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventriculomegaly, Ventricular septal defect, Bicuspid aortic valve, Shor... |
ORPHA:284169 |
| Distal Trisomy 5Q |
|
Absent thumb, Long philtrum, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder, Hy... |
ORPHA:96097 |
| Auriculocondylar Syndrome 3 |
|
Retrognathia, Micrognathia, Bifid uvula, Glossoptosis |
OMIM:615706 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Restricted large joint movement, Micrognathia, Abnormal respiratory system physiology, Delayed os... |
ORPHA:93346 |
| German Syndrome |
|
Camptodactyly of finger, High palate, Wide nasal bridge, Abnormal cardiac septum morphology, Micr... |
ORPHA:2077 |
| Stickler Syndrome, Type I |
|
Pierre-Robin sequence, Retinal hole, Micrognathia, Mitral valve prolapse, Bifid uvula, Submucous ... |
OMIM:108300 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Respiratory insufficiency, Retrognathia, High palate, Feeding difficulties in infancy, Dilated ca... |
OMIM:161800 |
| Cheilitis Glandularis |
|
Thick lower lip vermilion, Abnormal salivary gland morphology |
ORPHA:1221 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Cleft upper lip, Flexion contracture, Vertebral hypoplasia, Abnormal cardiac septum morphology, S... |
OMIM:308050 |
| X-Linked Centronuclear Myopathy |
|
High palate, Recurrent respiratory infections, Poor suck, Feeding difficulties in infancy, Respir... |
ORPHA:596 |
| Ramos-Arroyo Syndrome |
|
Choanal stenosis, Choriocapillaris atrophy, Long philtrum, Aganglionic megacolon, Feeding difficu... |
ORPHA:1051 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Depressed nasal ridge, Wide mouth, Short foot, Rhizomelia, Micrognathia, Death in infancy, Hydroc... |
ORPHA:163966 |
| Prader-Willi Syndrome Due To Translocation |
|
Nasogastric tube feeding in infancy, Lateral ventricle dilatation, Micrognathia, Feeding difficul... |
ORPHA:177907 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Ventriculomegaly, Wide nasal bridge, Bifid uvula, Smooth philtrum, Cleft palate, Feeding difficul... |
OMIM:300968 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Pneumothorax, High palate, Malrotation of small bowel, Long philtrum, Ventriculomegaly, Generaliz... |
ORPHA:2953 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Respiratory insufficiency, Flexion contracture, Rhizomelia, Micrognathia, Calcific stippling of i... |
OMIM:215100 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, Retrognathia, Gastroesophageal reflux, High palate, Ventriculome... |
OMIM:616449 |
| Achondroplasia |
|
Choanal stenosis, Rhizomelia, Short femoral neck, Short ribs, Death in infancy, Generalized joint... |
OMIM:100800 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Aplasia/Hypoplasia of the lungs, Hydro... |
ORPHA:2635 |
| Jackson-Weiss Syndrome |
|
Convex nasal ridge, Mandibular prognathia, Hypoplasia of the maxilla, Abnormal palate morphology,... |
ORPHA:1540 |
| Bilateral Perisylvian Polymicrogyria |
|
Gastroesophageal reflux, Distal arthrogryposis, Flexion contracture, Aspiration, Micrognathia, Ps... |
ORPHA:98889 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Knee flexion contracture, Bronchiectasis, Optic atrophy, Micrognathia, Pulmonary hypoplasia, Inte... |
OMIM:619708 |
| Meier-Gorlin Syndrome 4 |
|
Patellar aplasia, Thick lower lip vermilion, Micrognathia, Emphysema, Hypoplasia of the maxilla, ... |
OMIM:613804 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Retrognathia, High palate, Wide nasal bridge, Joint contracture, Atrial septal defect, Short nose... |
OMIM:618005 |
| Greenberg Dysplasia |
|
Absent or minimally ossified vertebral bodies, Micrognathia, Tetraphocomelia, Epiphyseal stipplin... |
OMIM:215140 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
High palate, Long philtrum, Small hand, Lateral ventricle dilatation, Right ventricular dilatatio... |
OMIM:612863 |
| Malan Syndrome |
|
Retrognathia, Mandibular prognathia, Ventriculomegaly, Advanced eruption of teeth, Hyperplasia of... |
OMIM:614753 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Retrognathia, High palate, Ventriculomegaly, Wide nasal bridge, Thick lower lip vermilion, Hypodo... |
OMIM:618342 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, High palate, Exertio... |
ORPHA:98915 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Pulmonary hypoplasia, Intestinal malrotation, Testicular atrophy, Decreased skull ossification, A... |
OMIM:601163 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Long philtrum, Ventriculomegaly, Micrognathia, Radioulnar synost... |
ORPHA:1988 |
| Lethal Congenital Contracture Syndrome 1 |
|
Micrognathia, Neonatal death, Pulmonary hypoplasia, Arthrogryposis multiplex congenita |
OMIM:253310 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Micrognathia, Abnormal cortical bone morphology, Pulmonary hypoplasia, Limit... |
ORPHA:1486 |
| Desmosterolosis |
|
Retrognathia, Ventriculomegaly, Micrognathia, Increased bone mineral density, Bifid uvula, Submuc... |
ORPHA:35107 |
| Peho Syndrome |
|
Retrognathia, Optic atrophy, Feeding difficulties in infancy, Short nose, Tented upper lip vermil... |
OMIM:260565 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Incisor macrodontia, Underdeveloped nasal alae, High palate, Wide nasal bridge, Feeding difficult... |
ORPHA:438216 |
| Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Respiratory failure, Anal atresia, Stillbirth |
OMIM:276950 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Myofiber disarray, High palate, Ventriculomegaly, Death in infancy, Irregular respiration, Respir... |
OMIM:604377 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Nasogastric tube feeding in infancy, Abnormality of upper lip vermillion, Convex nasal ridge, Mic... |
ORPHA:251028 |
| Mosaic Trisomy 16 |
|
Nasogastric tube feeding in infancy, Gastrostomy tube feeding in infancy, Short femoral neck, Wid... |
ORPHA:1708 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, High palate, Short foot, Flexion contracture, Decreased testicular size, M... |
OMIM:300534 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Underdeveloped nasal alae, Wrist flexion contracture, High, narrow palate, Short thumb, Micrognat... |
ORPHA:436003 |
| Autosomal Recessive Omodysplasia |
|
Long philtrum, Rhizomelia, Micrognathia, Micromelia, Short nose, Hypoplastic distal humeri, Depre... |
ORPHA:93329 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Poor suck, Death in infancy, Apnea, Hypertrophic cardiomyopathy, Respi... |
OMIM:616277 |
| Athyreosis |
|
Constipation, Feeding difficulties, Macroglossia, Abdominal distention |
ORPHA:95713 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia, Crowded maxillary incisors |
ORPHA:397973 |
| Esophageal Atresia |
|
Feeding difficulties in infancy, Pulmonary hypoplasia, Dysphagia, Cleft palate, Duodenal atresia,... |
ORPHA:1199 |
| Desmosterolosis |
|
Rhizomelia, Ventriculomegaly, Joint contracture of the hand, Micrognathia, Gingival fibromatosis,... |
OMIM:602398 |
| Ogden Syndrome |
|
Thick upper lip vermilion, Everted upper lip vermilion, Wide nasal bridge, Ventriculomegaly, Diar... |
OMIM:300855 |
| Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome |
|
Pulmonary arterial hypertension, Cleft soft palate, Wide nasal bridge, Micrognathia, Hypoxemia, S... |
ORPHA:2282 |
| Fetal Valproate Spectrum Disorder |
|
Long philtrum, Depressed nasal ridge, Short nose, Downturned corners of mouth, Narrow mouth, Thin... |
ORPHA:1906 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy |
OMIM:225753 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Nasogastric tube feeding in infancy, Flexion contracture, Micrognathia, Elbow flexion contracture... |
ORPHA:2020 |
| Cornelia De Lange Syndrome 5 |
|
Retrognathia, Gastroesophageal reflux, High palate, Long philtrum, Small hand, Widely spaced teet... |
OMIM:300882 |
| Isolated Childhood Apraxia Of Speech |
|
Submucous cleft hard palate, High, narrow palate |
ORPHA:209908 |
| Joubert Syndrome 18 |
|
Retrognathia, Lobulated tongue, Ventricular septal defect, Camptodactyly, Joint laxity, Cleft palate |
OMIM:614815 |
| Burn-Mckeown Syndrome |
|
Underdeveloped nasal alae, Cleft upper lip, Mandibular prognathia, Bilateral choanal atresia/sten... |
OMIM:608572 |
| Dysostosis, Stanescu Type |
|
Convex nasal ridge, Massively thickened long bone cortices, Abnormal nasal morphology, Increased ... |
ORPHA:1798 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Gastroesophageal reflux, Long philtrum, Wide nasal bridge, Short femoral neck, Ventriculomegaly, ... |
OMIM:614701 |
| Hurler Syndrome |
|
Flexion contracture, Wide nasal bridge, Microdontia, Hypoplasia of the femoral head, Cranial hype... |
OMIM:607014 |
| Intellectual Disability, Birk-Barel Type |
|
Incisor macrodontia, Congenital finger flexion contractures, Foot joint contracture, Micrognathia... |
ORPHA:166108 |
| Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Ventriculomegaly, Wide nasal bridge, Midline notch of upper alveolar ridge, Ant... |
OMIM:617127 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
