Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Holoprosencephaly 7 |
|
Flat occiput, Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hypoplasia of th... |
OMIM:610828 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Subcortical band heterotopia, ... |
OMIM:618737 |
Frontofacionasal Dysplasia |
|
Cleft upper lip, Underdeveloped nasal alae, Brachycephaly, Orofacial cleft, Midline defect of the... |
OMIM:229400 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pericallosal lipoma, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge, Cle... |
ORPHA:306542 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Open bite, Depressed na... |
ORPHA:1248 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Optic a... |
ORPHA:93262 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Micrognathia, Nasogastric tube feeding in infancy, Dyspnea, Temporomandibul... |
ORPHA:141152 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Anteverted nares, Micrognathia, Microcephaly, Dyspnea, Depressed nasal ridg... |
ORPHA:1832 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Optic a... |
ORPHA:207 |
Isolated Exencephaly |
|
Depressed nasal bridge, Abnormal facial skeleton morphology, Abnormal calvaria morphology, Holopr... |
ORPHA:563612 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... |
OMIM:137550 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Microcephaly, Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge, Periventricular leukom... |
OMIM:618302 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A... |
ORPHA:401942 |
Hartsfield Syndrome |
|
Wide nose, Median cleft lip, Craniosynostosis, Cleft upper lip, Microcephaly, Alobar holoprosence... |
OMIM:615465 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Broad nasal tip, Midface retrusion, Abnormality of the dentition |
ORPHA:2776 |
Frontonasal Dysplasia 1 |
|
Pericallosal lipoma, Median cleft lip, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal ti... |
OMIM:136760 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Microcephaly, Prominent nose, Wide anterior fontanel, Patent ductus... |
OMIM:614886 |
Holoprosencephaly 9 |
|
Depressed nasal bridge, Hypoplasia of the premaxilla, Optic nerve hypoplasia, Cleft upper lip, Hy... |
OMIM:610829 |
Fg Syndrome Type 1 |
|
Dental crowding, Single transverse palmar crease, Prominent nose, Micrognathia, Generalized joint... |
ORPHA:93932 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the maxilla, Chronic constipation, H... |
OMIM:300676 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Microcephaly, Hypoplasia of the maxilla, Brachycephaly, Anal atresia |
ORPHA:93950 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Prominence of the premaxilla, Anteverted nares, Patent ductus arteriosus, Depressed nasal ridge, ... |
ORPHA:2412 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Severe short stature, Anteverted nares, Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum ... |
ORPHA:1797 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Hypoplasia of the maxilla, Hypoplasi... |
OMIM:620157 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Abnormal odontoid process mor... |
OMIM:277300 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Hypoplasia of the maxilla, Decreased nerve conduction ... |
OMIM:218000 |
Lujan-Fryns Syndrome |
|
Dental crowding, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Abnormality of ... |
ORPHA:776 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of the premaxilla, Intestinal malrotation, Micrognathia, Microcephaly, ... |
ORPHA:2166 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Thin vermilion border, Short philtrum, Premature loss of teeth, Convex... |
OMIM:156510 |
Pierre Robin Syndrome |
|
Neonatal respiratory distress, Micrognathia, Feeding difficulties in infancy, Pierre-Robin sequen... |
OMIM:261800 |
Non-Distal Duplication 10Q |
|
Frontal bossing, Depressed nasal bridge, Microcephaly, Micrognathia, Brachycephaly, Everted lower... |
ORPHA:1695 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Macrocephaly, Everted ... |
OMIM:614753 |
Isolated Arrhinia |
|
Respiratory distress, Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplas... |
ORPHA:1134 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Depress... |
ORPHA:1529 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Prominent nasal bridge, Microcephaly, Hypoplasia of the maxilla, High palate, Macrocephaly |
ORPHA:85279 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
20P12.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow mouth, Wide nasal bridge, Macrocephaly,... |
ORPHA:261295 |
Sweeney-Cox Syndrome |
|
Flat occiput, Uplifted earlobe, Micrognathia, Bilateral cryptorchidism, Brachycephaly, High palat... |
OMIM:617746 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Microcephaly, Cerebellar hypoplasia, Hyperplasia of the maxilla |
OMIM:618383 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormality of the philtrum, Abnormal oral mucosa morphology, Prominent na... |
ORPHA:2673 |
Verheij Syndrome |
|
Branchial cyst, Short neck, Hemivertebrae, Coloboma, Joint laxity, Vertebral fusion, Anteverted n... |
OMIM:615583 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Micrognathia, Microcephaly, Respiratory insufficiency due to muscle weakness, Cerebral atrophy, F... |
OMIM:611890 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Usher Syndrome, Type Ig |
|
Hypoplasia of the nasal bone |
OMIM:606943 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Microcephaly, Alobar holoprosenc... |
OMIM:157170 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth |
OMIM:246560 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Severe short stature, Missing ribs, Short neck, Hemivertebrae, D... |
OMIM:122600 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Short... |
ORPHA:2311 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Clinodactyly, Hemivertebra... |
OMIM:268310 |
Femoral-Facial Syndrome |
|
Short femur, Short stature, Micrognathia, Abnormal sacrum morphology, Rib fusion, Abnormal rib mo... |
ORPHA:1988 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Orofacia... |
ORPHA:915 |
Diaphanospondylodysostosis |
|
Short neck, Missing ribs, Myelomeningocele, Short thorax, Enlarged thorax, Narrow pelvis bone, Ab... |
ORPHA:66637 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short neck, Glosso... |
OMIM:611209 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Midface retrusio... |
ORPHA:1540 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Feeding difficult... |
ORPHA:79113 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcephaly, Brachycephaly, High palate, Narrow mouth, Retrognathia |
ORPHA:2528 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Thin upper lip vermilion, Cerebral white matter atrophy, Death in infancy, ... |
OMIM:615042 |
Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici... |
ORPHA:99772 |
Apert Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, Agenesis of co... |
ORPHA:87 |
Microphthalmia With Limb Anomalies |
|
Death in infancy, Frontal bossing, Macrodontia, Hypoplasia of the premaxilla, Depressed nasal bri... |
ORPHA:1106 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Optic disc colobo... |
OMIM:241310 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Prominent nose, Micrognathia, Depressed nasal ridge, Brachycephaly, Hemive... |
OMIM:156200 |
Keipert Syndrome |
|
Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Prominent nasal brid... |
ORPHA:2662 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Short nose, Cleft palate, Long philtrum |
ORPHA:90653 |
Crouzon Syndrome |
|
Mandibular prognathia, Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hypoplasia of... |
OMIM:123500 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Dental crowding, Apnea, Micrognathia, Narrow mouth, Dental malocclusion, Te... |
OMIM:614669 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Short philtrum |
ORPHA:93945 |
Atelosteogenesis, Type Iii |
|
Frontal bossing, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Cleft palate, P... |
OMIM:108721 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Facial palsy, Craniosynostosis, Optic atrophy, Brachycephaly, Macrocephaly, Thickened ... |
ORPHA:178377 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Short stature, Delayed skeletal maturation, Abnormality of the elbow, Abnormal... |
ORPHA:3268 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder ... |
ORPHA:2345 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Disproportionate short-trunk short sta... |
OMIM:608681 |
Trisomy 13 |
|
Anophthalmia, High, narrow palate, Narrow chest, Iris coloboma, Bilateral single transverse palma... |
ORPHA:3378 |
Lowry-Maclean Syndrome |
|
Short nasal bridge, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia ... |
ORPHA:2409 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Cloverleaf skull, Dental crowding, Depressed nasal bridge, Choanal atresia... |
OMIM:101600 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Macrocephaly, Crowded maxillary incisors |
ORPHA:397973 |
Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Thin upper lip vermilion, Prominent metopic ridge, Anteverted nares, Depressed nasal bridge, Sing... |
OMIM:619188 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Short neck, Bilateral cryptorchidism, High palate, Recurrent aspiration pneumonia, Iris coloboma,... |
OMIM:300472 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Abnormal pinna morphology, Prominent nasal bridge, Choanal atresia, Short neck, Pectus excavatum,... |
ORPHA:52055 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Single transverse palmar crease, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibia... |
OMIM:206920 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Posteriorly rotated ears, Rocker bottom foot, Micrognathia, Short neck, Kyphosi... |
OMIM:618393 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Epistaxis, Microcephaly, Hypoplasia of the maxilla, Broa... |
ORPHA:293939 |
Cohen Syndrome |
|
Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Feeding dif... |
OMIM:216550 |
Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Underf... |
OMIM:620107 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Hypoplasia of the maxilla, Optic atrophy, Simplified gyral pattern, Cerebral atrophy, ... |
OMIM:614261 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, Deep philtrum, Wide nasal b... |
OMIM:615834 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
Auriculocondylar Syndrome 1 |
|
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Apnea, Micrognath... |
OMIM:602483 |
8Q22.1 Microdeletion Syndrome |
|
Craniosynostosis, Microcephaly, Hypoplasia of the maxilla, Abnormality of the dentition, Submucou... |
ORPHA:178303 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Depressed nasal bridge, Micrognathia, Feeding difficulties in infancy, Microcephaly, Brachycephal... |
ORPHA:1387 |
Isolated Pierre Robin Syndrome |
|
Neonatal respiratory distress, Micrognathia, Upper airway obstruction, Cleft palate, Glossoptosis |
ORPHA:718 |
Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Cerebral calcification, Abnormal dental enamel morphology, Abnormality of th... |
ORPHA:1798 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r... |
OMIM:173800 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Short philtrum, Midf... |
OMIM:619142 |
Marshall Syndrome |
|
Thickened calvaria, Frontal bossing, Cerebral calcification, Anteverted nares, Depressed nasal br... |
ORPHA:560 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Frontal bossing, Hypoplasia of the nasal bone |
OMIM:118650 |
Potocki-Shaffer Syndrome |
|
Prominent nasal bridge, Broad nasal tip, Micrognathia, Underdeveloped nasal alae, Parietal forami... |
ORPHA:52022 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Micrognathia, Hydrocephalus, Unilambdoid synostosis, Wide nasal bridge, Brachyc... |
OMIM:618577 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Simplif... |
OMIM:601390 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Short neck, Brachycephaly, Anter... |
ORPHA:247262 |
Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Feeding difficulties in infancy, High palate, Widely spaced teeth, Apl... |
ORPHA:192 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Depressed nasal bridge, Pro... |
ORPHA:90650 |
Nager Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal nasal morphology, Non-midline cleft lip, Cleft ... |
ORPHA:245 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Wide nose, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Pr... |
OMIM:610017 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal widening, Pectus carinatum, Narrow greater sciatic notch, Osteoporotic tarsals, Enlar... |
OMIM:609052 |
Acrocraniofacial Dysostosis |
|
Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Abnormality of the malleus, ... |
ORPHA:949 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short stature, Missing r... |
OMIM:613686 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, Hemivertebrae, Brachycephaly, Coxa vara, Pectus carinatum, Clino... |
OMIM:614701 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Hydrocephalus, Brachycephaly, Mac... |
OMIM:109120 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Patent ductus arteriosus, Brachycephaly,... |
ORPHA:2095 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib... |
ORPHA:83451 |
2Q32Q33 Microdeletion Syndrome |
|
Dental crowding, Anteverted nares, Prominent nasal bridge, Micrognathia, Microcephaly, Brachyceph... |
ORPHA:251019 |
Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Dental crowding, Anteverted nares, Narrow nasal ridge, Microcephaly... |
OMIM:620370 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia |
ORPHA:2975 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Micrognathia, Wide anterior fontanel, ... |
OMIM:618272 |
Seckel Syndrome 4 |
|
11 pairs of ribs, Severe short stature, Underdeveloped nasal alae, Low-set ears, Steep acetabular... |
OMIM:613676 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... |
OMIM:601216 |
Kleeblattschaedel |
|
Hydrocephalus, Proptosis |
OMIM:148800 |
Marshall-Smith Syndrome |
|
Irregular dentition, Apnea, Anteriorly placed anus, Glossoptosis, Short philtrum, High palate, Ch... |
OMIM:602535 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Thin upper lip vermilion, Slender nose, Micrognathia, ... |
OMIM:615419 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Thin upper lip vermilion, Anteverted nares, Short stature, Anterior concavity of thoracic vertebr... |
OMIM:617101 |
Holoprosencephaly |
|
Flat occiput, Anophthalmia, Short neck, Deep philtrum, Depressed nasal ridge, Panhypopituitarism,... |
ORPHA:2162 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Abnormal pinna morphology, Bifid nasal tip, Optic atrophy, Wide nasal bridge, High palate, Trigon... |
OMIM:300983 |
Kabuki Syndrome 2 |
|
Micrognathia, Protruding ear, High palate, Prominent fingertip pads, Joint laxity, Short stature,... |
OMIM:300867 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Respiratory distress, Wide nose, Cerebral calcification, 4-layered lissencepha... |
ORPHA:89844 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, Anteriorly placed anus,... |
OMIM:218600 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Micromeli... |
ORPHA:2635 |
Arthrogryposis, Distal, Type 1C |
|
Short neck, Knee flexion contracture, Limited neck range of motion, High palate, Camptodactyly of... |
OMIM:619110 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Short stature, Arachnodactyly, Micrognathia, Bulbous nose, Cupped ear, Wide nas... |
ORPHA:93946 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Papilledema, Craniofacial hyperostosis, Thickened ribs, Short stature, Dep... |
OMIM:122860 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Congenital hip dislocation, High palate, Conductive hearing impairment, Microdont... |
OMIM:113650 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Flat occiput, Micrognathia, Brachycephaly, Downturned corners of mouth, High palate, Long philtru... |
OMIM:613792 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Multiple pterygia, Micrognathia, Orofacial cleft, Webbed neck, Symphalangism affecting the phalan... |
ORPHA:2990 |
Zaki Syndrome |
|
Wide nose, Sacral dimple, Anteverted nares, Short stature, Toe syndactyly, Micrognathia, Long fin... |
OMIM:619648 |
Axenfeld-Rieger Syndrome |
|
Anal stenosis, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Everted lowe... |
ORPHA:782 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Non-midline cleft lip, Meningocele, Depressed nasal ridge, Absent nasal septal cartilage, Bilater... |
ORPHA:2003 |
Cornelia De Lange Syndrome 5 |
|
Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Micrognathia, Feeding difficult... |
OMIM:300882 |
Skraban-Deardorff Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Absent cupid's bow, Cleft palate, Feeding... |
OMIM:617616 |
Achondrogenesis Type 1A |
|
Frontal bossing, Anteverted nares, Micrognathia, Abdominal distention, Macrocephaly, Umbilical he... |
ORPHA:93299 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Anteverted nares, Hypoplasia of the maxilla, Bulbous nose, Hyperintensity of cerebral white matte... |
ORPHA:481152 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Microcephaly, Optic atrophy, Cerebral atrophy, Feeding difficulties, Respiratory insufficiency, R... |
OMIM:615330 |
Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Short metacarpal, Posteriorly rotated ears, Broad nasal tip, Accelerate... |
OMIM:617190 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Attached earlobe, Brachycephaly, Abnormal form of the vertebral bodies, Pe... |
ORPHA:1327 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, General... |
ORPHA:2790 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Relative macrocephaly, Aplasia of the nasal bone... |
ORPHA:93357 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Micrognathia, Microcephaly, Feeding difficulties, Wide mouth, Widely spaced... |
OMIM:300934 |
Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Micrognathia, Kyphosis, Hydrocephalus, Cupped ear, Sensorineura... |
ORPHA:314588 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Mandibular prognathia, Thick lower lip vermilion, Brachycephaly, Wide mouth, Thick upper lip verm... |
OMIM:309545 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Narrow nasal bridge, Thin upper lip vermilion, Frontal bossing, Dental crowding, Prominent nasal ... |
OMIM:309520 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Anteverted nares, Hypoplasia of the maxilla, Thick vermilion border, Biparieta... |
ORPHA:228396 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Mandibular prognathia, Anteverted nares, Feeding difficulties in infancy, Depressed nasal ridge, ... |
OMIM:618672 |
7Q31 Microdeletion Syndrome |
|
Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Nasogastric tube feeding in infancy,... |
ORPHA:251061 |
Tetralogy Of Fallot |
|
Proptosis |
OMIM:187500 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Hypop... |
ORPHA:950 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Micrognathia, Microcephaly, Dolichocephaly, Gingival o... |
OMIM:618186 |
Branchiootic Syndrome 1 |
|
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... |
OMIM:602588 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, High, narrow palate, Anteriorly placed anus, High palate, Prominent fingert... |
OMIM:612863 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Flat occiput, Micrognathia, Microcephaly, High, narrow palate, Dyspnea, Opt... |
ORPHA:2707 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Frontal bossing, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis |
OMIM:311895 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Cupped ear, Wide nasal bridge, Coloboma, Low-s... |
OMIM:167730 |
Holoprosencephaly 11 |
|
Synophrys, Hypotelorism, Proptosis, Holoprosencephaly, Thick eyebrow |
OMIM:614226 |
Angelman Syndrome |
|
Mandibular prognathia, Flat occiput, Protruding tongue, Hypoplasia of the maxilla, Feeding diffic... |
OMIM:105830 |
Ververi-Brady Syndrome |
|
Thin upper lip vermilion, Wide nose, Short stature, Prominent nose, Broad nasal tip, Bulbous nose... |
OMIM:617982 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Conductive hearing impairment, La... |
ORPHA:2780 |
Carey-Fineman-Ziter Syndrome 2 |
|
Thin upper lip vermilion, Dental crowding, Anteverted nares, Micrognathia, Underdeveloped nasal a... |
OMIM:619941 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
Frias Syndrome |
|
Hypertelorism, Proptosis, Downslanted palpebral fissures, Ptosis |
OMIM:609640 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Sandal gap, Micrognathia, Cupped ear, Lens coloboma, 2-3 toe syndactyly, S... |
OMIM:618914 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge... |
OMIM:601499 |
Lateral Meningocele Syndrome |
|
Dental crowding, Micrognathia, Short neck, High palate, Conductive hearing impairment, Long philt... |
OMIM:130720 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Prominent nasal bridge, Hypoplasia of the maxilla, Cleft palate, Macrocephaly,... |
ORPHA:1307 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Turricephaly, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Micrognathia, Patent du... |
ORPHA:171839 |
Mohr Syndrome |
|
Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Micrognathia, Hypoplasia of th... |
OMIM:252100 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Pectus carinatum, Downturn... |
ORPHA:1507 |
Becker Nevus Syndrome |
|
Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Upper limb asymmet... |
ORPHA:64755 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Short stature, Depressed nasal bridge, Optic atrophy, Abnormal rib mor... |
ORPHA:1513 |
Cornelia De Lange Syndrome 2 |
|
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Micrognathia, Microcephaly, B... |
OMIM:300590 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Tented upper lip vermilion, Depressed nasal bridge, Micrognathia, Hypoplasia... |
OMIM:615546 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High palate, Encephalocele,... |
ORPHA:861 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, M... |
OMIM:213980 |
Adenylosuccinate Lyase Deficiency |
|
Thin upper lip vermilion, Hypointensity of cerebral white matter on MRI, Anteverted nares, Flat o... |
ORPHA:46 |
Parenti-Mignot Neurodevelopmental Syndrome |
|
Frontal bossing, Posteriorly rotated ears, Prominent nasal bridge, Craniosynostosis, Micrognathia... |
OMIM:619873 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Facial palsy, Micrognathia, Respiratory insufficiency due to muscle weaknes... |
OMIM:300580 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Prominent nasal tip, Frontal bossing, Depressed ... |
ORPHA:439822 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Aplasia of the nasal bone, Streak ovary, Jejunal atresia, Acrania, Ileal atresia, Mic... |
OMIM:618820 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Dental crowding, Anteverted nares, Depressed nasal bridge, Micrognathia... |
OMIM:615761 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Frontal bossing, Dental crowding, Micrognathia, Hypoplasia of the maxi... |
OMIM:257850 |
Kbg Syndrome |
|
Persistent open anterior fontanelle, Single transverse palmar crease, Short neck, Finger clinodac... |
ORPHA:2332 |
Carpenter Syndrome 1 |
|
Depressed nasal bridge, Sagittal craniosynostosis, Persistence of primary teeth, Hypoplasia of th... |
OMIM:201000 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Anophthalmia, Micromelia, Micrognathia, Cryptorchidism, Hydroc... |
ORPHA:2189 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Short neck, Depressed nasa... |
OMIM:613885 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Short stature, Single transverse palmar crease, Bifid distal phalanx of the thumb,... |
ORPHA:370010 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... |
OMIM:609945 |
Witteveen-Kolk Syndrome |
|
Glue ear, Decreased response to growth hormone stimulation test, Uplifted earlobe, Proximal place... |
OMIM:613406 |
Postaxial Acrofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... |
ORPHA:246 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Abnormal clavicle morphology, Micrognathia, Short neck, Abnormality of the ... |
ORPHA:798 |
Frontorhiny |
|
Encephalocele, Pericallosal lipoma, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft... |
ORPHA:391474 |
Aminopterin Syndrome Sine Aminopterin |
|
Frontal bossing, Megalencephaly, Micrognathia, Microcephaly, Brachycephaly, Cleft palate, Oligodo... |
OMIM:600325 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Short stature, Spinal instability |
OMIM:251250 |
Tetrasomy 15Q26 |
|
Microretrognathia, Arachnodactyly, Kyphoscoliosis, Hydrocephalus, Cupped ear, Patent ductus arter... |
OMIM:614846 |
Neuhauser Syndrome |
|
Osteopenia, Frontal bossing, Depressed nasal bridge, Short stature, Genu recurvatum, Micrognathia... |
OMIM:249310 |
Williams-Beuren Region Duplication Syndrome |
|
Cerebellar vermis hypoplasia, Micrognathia, Diastema, Broad nasal tip, Patent ductus arteriosus, ... |
OMIM:609757 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Prominent nasal bridge, Craniosynostosis, Cleft upper lip, Wide nas... |
OMIM:265050 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:166300 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:601809 |
Microcephaly-Deafness-Intellectual Disability Syndrome |
|
Short stature, Micrognathia, Sensorineural hearing impairment, Cupped ear, Protruding ear, Everte... |
ORPHA:2533 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Knee flexion contract... |
OMIM:265000 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Frontal bossing, Anteverted nares, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Wid... |
OMIM:182212 |
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
|
Optic disc pallor, Anteverted nares, Prominent nasal bridge, Uplifted earlobe, Tapered finger, Op... |
OMIM:615722 |
Arthrogryposis, Distal, Type 1A |
|
Congenital hip dislocation, Single transverse palmar crease, Calcaneovalgus deformity, Knee flexi... |
OMIM:108120 |
Pycnodysostosis |
|
Obtuse angle of mandible, Frontal bossing, Delayed eruption of primary teeth, Persistence of prim... |
ORPHA:763 |
Trisomy 1Q |
|
Anophthalmia, Microretrognathia, Depressed nasal bridge, Arachnodactyly, Cryptorchidism, Patent d... |
ORPHA:261344 |
Prieto Syndrome |
|
11 pairs of ribs, Prominent nose, Abnormality of the dentition, Coxa valga, Cryptorchidism, Osteo... |
OMIM:309610 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Patent ductu... |
OMIM:106260 |
Acrofacial Dysostosis, Cincinnati Type |
|
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Patent ductus arteriosus,... |
OMIM:616462 |
Pierpont Syndrome |
|
Smooth philtrum, Wide nose, Microcephaly, Broad nasal tip, Short nose, Brachycephaly, Feeding dif... |
OMIM:602342 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Tented upper lip vermilion, Depressed nasal bridge, Micrognathia, Microcephaly, Brachycephaly, Pr... |
OMIM:620240 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Frontal bossing, Wide nose, Prominent nasal bridge, Hypoplasia of the ... |
ORPHA:50814 |
Holoprosencephaly 4 |
|
Median cleft lip, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip, Sem... |
OMIM:142946 |
Qazi-Markouizos Syndrome |
|
Prominent nasal bridge, High, narrow palate, Abdominal distention, Hypoplasia of teeth, Chronic c... |
ORPHA:3010 |
Cerebrofacioarticular Syndrome |
|
Irregular dentition, Anal stenosis, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the... |
ORPHA:314679 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
Martsolf Syndrome 1 |
|
Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy,... |
OMIM:212720 |
Short Stature And Facioauriculothoracic Malformations |
|
Abnormal odontoid process morphology, Proportionate short stature, Cleft upper lip, Short neck, P... |
OMIM:609654 |
14Q22Q23 Microdeletion Syndrome |
|
Anophthalmia, Anterior pituitary hypoplasia, Adrenal hypoplasia, Micrognathia, Brachycephaly, Dow... |
ORPHA:264200 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Wide nose, Abnormality of cartilage of external ear, Hypoplasia of the maxilla, Recurrent upper r... |
ORPHA:2399 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Posterio... |
OMIM:615873 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Micrognathia, Clinodactyly, Flexion contracture, Brachycephaly, Protruding ear, Oligodontia, High... |
OMIM:309590 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... |
ORPHA:40366 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Abnormal number of incisors, Prominent nose, Coxa valga, Cryptorchidism, Osteoporosis, Patellar s... |
ORPHA:2958 |
Kagami-Ogata Syndrome |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxill... |
OMIM:608149 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Proptosis, Hypertelorism |
ORPHA:35099 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Prominent nasal tip, Anteverted nares, Short stature, Decreased palmar creases, Micrognathia, Kyp... |
ORPHA:352490 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ... |
ORPHA:363417 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Prominent nasal bridge, Posteriorly rotated ears, Tapered finger, Bulbous ... |
OMIM:613870 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Pursed lips, Slender nose, Micrognathia, Microcephaly, Narrow mouth, Abnormal pattern of respirat... |
ORPHA:562528 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Frontal bossing, Respiratory distress, Depressed nas... |
ORPHA:166272 |
Postaxial Acrofacial Dysostosis |
|
Congenital hip dislocation, Conical tooth, Micrognathia, Supernumerary vertebrae, Conductive hear... |
OMIM:263750 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:172880 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Midface retrusion, Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosy... |
ORPHA:1790 |
Charge Syndrome |
|
Anophthalmia, Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Hypoplasia of the se... |
ORPHA:138 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c... |
OMIM:178110 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla |
OMIM:608154 |
Pierpont Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Abnormal cortical gyration, Wide nasal ridge, Brachyce... |
ORPHA:487825 |
Developmental And Epileptic Encephalopathy 36 |
|
Microretrognathia, Anteverted nares, Hydrocephalus, Flexion contracture, Optic atrophy, Small han... |
OMIM:300884 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Elbow dislo... |
ORPHA:2631 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Brachycephaly, Downturned corners of mouth, High palate, Conductive hearing impairm... |
OMIM:605627 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Congenital hip dislocation, Multiple joint contractures, Single transverse palmar crease, Microgn... |
OMIM:618291 |
Desmosterolosis |
|
Frontal bossing, Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Rhizomelia... |
OMIM:602398 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Short stature, Abnormal thorax morphology, Small hand, Narr... |
ORPHA:1445 |
Aicardi Syndrome |
|
Intestinal polyposis, Prominence of the premaxilla, Hiatus hernia, Cleft upper lip, Malabsorption... |
ORPHA:50 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Flat occiput, Short neck, Flexion contracture, Brachycephaly, Protruding ear, High palate, Short ... |
OMIM:617452 |
Anophthalmia Plus Syndrome |
|
Low-set, posteriorly rotated ears, Anophthalmia, Choanal atresia, Spina bifida, Abnormal nasal mo... |
ORPHA:1104 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Depressed nasal bridge, Micrognathia, Microcephaly, Patent ductus arteriosus, Brachycephaly, High... |
OMIM:618142 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Orofacial cleft, Abnormal form of the vertebral bo... |
OMIM:194190 |
Meier-Gorlin Syndrome 4 |
|
Micrognathia, Hypoplasia of the maxilla, Microcephaly, Thick lower lip vermilion, Feeding difficu... |
OMIM:613804 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Baraitser-Winter Syndrome 1 |
|
Short neck, Orofacial cleft, Chorioretinal coloboma, Pachygyria, Iris coloboma, Anteverted nares,... |
OMIM:243310 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Hypoplasia... |
OMIM:300534 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty... |
ORPHA:97360 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Depressed nasal ridge, Hemivertebrae, Gonadotropin deficiency, Holoprosenceph... |
ORPHA:672 |
Larsen-Like Syndrome |
|
Frontal bossing, Wide anterior fontanel, Dental malocclusion, Brachycephaly, Cleft palate, Absent... |
OMIM:608545 |
X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Dental crowding, Brachycephaly, Pectus carinatum, High palate, Short philt... |
ORPHA:3063 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ... |
ORPHA:280 |
Bilateral Polymicrogyria |
|
4-layered lissencephaly, Micrognathia, Sensorineural hearing impairment, Perisylvian polymicrogyr... |
ORPHA:268940 |
Treacher Collins Syndrome 4 |
|
Respiratory failure requiring assisted ventilation, Microcephaly, Feeding difficulties in infancy... |
OMIM:618939 |
Coffin-Siris Syndrome 6 |
|
Frontal bossing, Wormian bones, Depressed nasal bridge, Posteriorly rotated ears, Short stature, ... |
OMIM:617808 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Micrognathia, Brachycephaly, Short nose, Spina bifida occulta |
ORPHA:1514 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Cerebellar vermis hypoplasia, Anteverted nares, Spina bifida, Hiatu... |
OMIM:304050 |
Sandestig-Stefanova Syndrome |
|
Wide nasal bridge, Orofacial cleft, Respiratory failure, High palate, Hypoplasia of the corpus ca... |
OMIM:618804 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Cleft palate, Short nose |
ORPHA:2015 |
Ck Syndrome |
|
Dental crowding, Prominent nasal bridge, Posteriorly rotated ears, Micrognathia, Pachygyria, Hype... |
OMIM:300831 |
Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormality of ... |
OMIM:179613 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Micromelia, Micrognathia, Proximal placement of ... |
ORPHA:628 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, Optic atrophy, 2-3 toe syndactyl... |
ORPHA:313892 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Arachnodactyly, Carious teeth, Palmar pits, Hydrocephalu... |
ORPHA:377 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Thin upper lip vermilion, Abnormal cerebral white matter morphology, Hyperplasia of the maxilla |
OMIM:618587 |
German Syndrome |
|
Depressed nasal bridge, Micrognathia, Dolichocephaly, Wide nasal bridge, Orofacial cleft, Brachyc... |
ORPHA:2077 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
High, narrow palate, Calcaneovalgus deformity, Brachycephaly, High palate, Pachygyria, Depressed ... |
OMIM:612513 |
Wieacker-Wolff Syndrome |
|
Apnea, Proximal placement of thumb, Micrognathia, Short neck, High palate, Narrow chest, Neonatal... |
OMIM:314580 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal... |
ORPHA:90652 |
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus |
|
Open bite, Dental crowding, Hyperplasia of the maxilla |
OMIM:613671 |
Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, Depressed nasal bridge, Micr... |
OMIM:617752 |
Xq28 (MECP2) duplication |
|
Depressed nasal bridge, Microcephaly, Feeding difficulties in infancy, Brachycephaly, Dysphagia, ... |
DECIPHER:45 |
Saethre-Chotzen Syndrome |
|
Depressed nasal bridge, Prominent nasal bridge, Craniosynostosis, Hypoplasia of the maxilla, Open... |
ORPHA:794 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Microcephaly, Micrognathia, Bulbous nose, Wide nasal bridge, Feeding diffic... |
ORPHA:261304 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Redundant neck skin, Single transverse palmar ... |
ORPHA:96334 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Micrognathia, Wide anterior fontanel, ... |
ORPHA:163649 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Frontal bossing, Anteverted nares, Apnea, Craniosynostosis, Microgna... |
ORPHA:2462 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Narrow nasal bridge, Flat occiput, Microcephaly, Abnormal zygomatic bone m... |
ORPHA:2511 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Anteverted nares, Short stature, Persistence of primary teeth, Micrognathia, Sen... |
OMIM:618342 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Dental crowding, Anophthalmia, Cutaneous finger ... |
OMIM:219000 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Gomez-Lopez-Hernandez Syndrome |
|
Turricephaly, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Anteverted nares, Cran... |
OMIM:601853 |
Rapp-Hodgkin Syndrome |
|
Depressed nasal bridge, Conical tooth, Hypoplasia of the maxilla, Carious teeth, Cleft upper lip,... |
OMIM:129400 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin... |
ORPHA:93351 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Frontal bossing, Thick nasal alae, Posteriorly rotated ears, Episodic tachypnea, Micrognathia, Hy... |
ORPHA:163961 |
Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Prominent nasal bridge, Micrognathia, Hypoplasia o... |
ORPHA:193 |
Pontocerebellar Hypoplasia, Type 3 |
|
Optic disc pallor, Depressed nasal bridge, Reduced cerebral white matter volume, Hypoplasia of th... |
OMIM:608027 |
Hypohidrotic Ectodermal Dysplasia |
|
Frontal bossing, Sinusitis, Abnormal dental morphology, Anteverted nares, Abnormality of the dent... |
ORPHA:238468 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... |
ORPHA:168549 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Depressed nasal bridge, Dolichocephaly, Carious teeth, Wide nasal bridge, T... |
OMIM:617102 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... |
OMIM:272460 |
Pontocerebellar Hypoplasia Type 10 |
|
Long palpebral fissure, Proptosis, Long eyelashes, Highly arched eyebrow |
ORPHA:411493 |
Baraitser-Winter Syndrome 2 |
|
Thin upper lip vermilion, Abnormal pinna morphology, Short stature, Short neck, Pachygyria, Orofa... |
OMIM:614583 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Flat occiput, Short neck, Brachycephaly, High palate, Sh... |
ORPHA:505237 |
Nablus Mask-Like Facial Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Anteverted nares, Depressed nasal bridge, Craniosynost... |
OMIM:608156 |
Branchiootic Syndrome |
|
Branchial fistula, Facial palsy, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnorma... |
ORPHA:52429 |
Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Microcephaly, Micrognathia, Brachycephaly, High palate, Short nose, Midfa... |
ORPHA:1913 |
Gómez-López-Hernández Syndrome |
|
Turricephaly, Cerebellar vermis hypoplasia, Anteverted nares, Hydrocephalus, Brachycephaly, Thin ... |
ORPHA:1532 |
Atelosteogenesis, Type I |
|
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonat... |
OMIM:108720 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Persistence of primary teeth, H... |
OMIM:170390 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fu... |
OMIM:300166 |
Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Prominent nasal bridge, Microcephaly, Hypoplasia of the maxilla, Bulbous n... |
OMIM:609460 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Short stature, Hyperlordosis, Pectus excavatum, Short neck, Kyphosi... |
ORPHA:2522 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Broad... |
OMIM:101800 |
Marcus-Gunn Syndrome |
|
Abnormal ear morphology, Abnormal fifth cranial nerve morphology, Choanal atresia, Postnatal grow... |
ORPHA:91412 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Short stature, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phala... |
OMIM:300863 |
Eng-Strom Syndrome |
|
Short stature, Camptodactyly of finger, Pectus excavatum, Arthritis, Scoliosis, Intrauterine grow... |
ORPHA:1937 |
Rubinstein-Taybi Syndrome 2 |
|
Prominent nose, Micrognathia, High palate, Prominent fingertip pads, Posterior helix pit, Syndact... |
OMIM:613684 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Brachydactyly, Anteverted nares, Protruding tongue, Short neck, Cryptorchidism, Hydrocephalus, Se... |
OMIM:612938 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Clinodactyly, Coxa vara, Reduced bone mineral density, Pectus carinatum, Tibial bowin... |
ORPHA:93315 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Intestinal malrotation, Micrognathia, Broad nasal tip, Cryptorchidism, Wide nasal b... |
OMIM:615524 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Dental crowding, Internally rotated shoulders, Ankle flexion c... |
OMIM:617468 |
Mesomelic Dysplasia, Kantaputra Type |
|
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal r... |
ORPHA:1836 |
Cleidocranial Dysplasia 2 |
|
Delayed eruption of primary teeth, Hypoplasia of the maxilla, Wide anterior fontanel, Supernumera... |
OMIM:620099 |
Craniosynostosis, Herrmann-Opitz Type |
|
Turricephaly, Craniosynostosis, Micrognathia, Brachycephaly, Cleft palate, Malar flattening, Shor... |
ORPHA:2145 |
Aarskog-Scott Syndrome |
|
Anteverted nares, Cleft upper lip, Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, Cu... |
OMIM:305400 |
Peho-Like Syndrome |
|
Tapered finger, Optic atrophy, Retrognathia, Lissencephaly, Open mouth, Pachygyria, Polymicrogyri... |
OMIM:617507 |
Perching Syndrome |
|
Respiratory distress, Depressed nasal bridge, Feeding difficulties, High palate, Dysphagia |
OMIM:617055 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Turricephaly, Cloverleaf skull, Anteverted nares, Depressed nasal bridge, C... |
ORPHA:1555 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Micrognathia, Short neck, High palate, Short palm, Anteverted nares, Depressed nasal bridge, Faci... |
OMIM:272430 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short n... |
OMIM:113620 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Thin upper lip vermilion, Cerebral white matter atrophy, Micrognathia, Deep... |
ORPHA:329178 |
Zttk Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Protruding ear, Downturned corners... |
OMIM:617140 |
Charge Syndrome |
|
Anophthalmia, Abnormal palmar dermatoglyphics, Decreased response to growth hormone stimulation t... |
OMIM:214800 |
Otodental Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Agenesis of premo... |
ORPHA:2791 |
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities |
|
Mandibular prognathia, Thin upper lip vermilion, Short stature, Cryptorchidism, Delayed skeletal ... |
OMIM:619595 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Pectus excavatum, Optic atrophy, Gingival overgrowth, Growth delay, High palate, Bilateral sensor... |
OMIM:619422 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Hypoplasia of the maxilla, Beaded ribs, Multiple prenatal fractures, Pa... |
OMIM:215140 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Frontal bossing, Aplasia of the nasal bone, Midface retrusion, Promine... |
OMIM:601812 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Proptosis, Highly arched eyebrow |
OMIM:608716 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Flat occiput, Depressed nasal bridge, Micrognathia, High, narrow palate, Pa... |
OMIM:608799 |
Lateral Meningocele Syndrome |
|
Dental crowding, Micrognathia, Short neck, High, narrow palate, Abnormal form of the vertebral bo... |
ORPHA:2789 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Micrognathia, Respiratory insufficiency due to muscle weakness, Scaphocepha... |
ORPHA:1143 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Mandibular prognathia, Frontal bossing, Microcephaly, Dolichocephaly, Low hanging columella, Brac... |
OMIM:619721 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Microcephaly, Submucous cleft hard palate, Feeding diffi... |
OMIM:613805 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Palmar pits, Hemivertebrae, Abnormal sternum morphology, Parietal bossing,... |
OMIM:109400 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Short neck, Bilateral cryptorchidism, Flexion contractur... |
OMIM:263650 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Microcephaly, Micrognathia, Wide anterior fontanel, Underdeveloped nasal alae, Brachycephaly, Ret... |
OMIM:263210 |
Perlman Syndrome |
|
Anteverted nares, Posteriorly rotated ears, Micrognathia, High, narrow palate, Cryptorchidism, Sh... |
ORPHA:2849 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Depressed nasal ridge, Brachycephaly, Orofacial cleft, High palate, Conductive hearing impairment... |
OMIM:607872 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Short thorax, Short long bone, Vertebral segmentation defect, Ta... |
OMIM:618845 |
Frontonasal Dysplasia 2 |
|
Aplasia of the nasal bone, Cerebellar vermis hypoplasia, Cleft ala nasi, Conical tooth, Depressed... |
OMIM:613451 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Short stature, Wide nasal bridge, Fused cervical vertebrae, Short middle... |
OMIM:309620 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... |
OMIM:300048 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Cleft palate, Respi... |
OMIM:614399 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Hearing abn... |
ORPHA:1352 |
Nemaline Myopathy 9 |
|
Respiratory insufficiency, High palate, Cleft palate, Micrognathia |
OMIM:615731 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Congenital hip dislocation, Limited elbow movement, Prominent nose, Camptodactyly of toe, Hyperpl... |
OMIM:300280 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Flat occiput, Dental crowding, Hypoplasia of the maxilla, Clinodactyly, Br... |
OMIM:614188 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Micrognathia, Large fleshy ears, High palate, Anteverted nares, Depressed nasal bridge, Patent du... |
OMIM:614080 |
Weiss-Kruszka Syndrome |
|
Prominent metopic ridge, Anteverted nares, Exaggerated cupid's bow, Hearing impairment, Single tr... |
OMIM:618619 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, High, narrow pal... |
ORPHA:2554 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of fing... |
ORPHA:1436 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Short stature, Lateral clavicle h... |
OMIM:171480 |
Monosomy 18P |
|
Micrognathia, Carious teeth, Microcephaly, Wide nasal bridge, Cleft palate, Brachycephaly, Downtu... |
ORPHA:1598 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short stature, Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelv... |
ORPHA:2370 |
Weaver Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Sandal gap, Camptodactyly of finger, Microg... |
ORPHA:3447 |
Kbg Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, Short neck, Brachycephaly, Protrudin... |
OMIM:148050 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Brachycephaly, Anteriorly placed anus, Downturn... |
ORPHA:1299 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Short stature, Abnormality of the mi... |
OMIM:609166 |
Grant Syndrome |
|
Frontal bossing, Depressed nasal bridge, Micrognathia, Open bite, Brachycephaly, Abnormal palate ... |
ORPHA:2097 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Micrognathia, Feeding difficulties in infancy, Malnutrition, Upper airway o... |
OMIM:612776 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Mandibular prognathia, Frontal bossing, Tented upper lip vermilion, Thick lower lip vermilion, Br... |
OMIM:615828 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Anteverted nares, Depressed nasal bridge, Apnea, Microcephaly, Dolichocephaly, Optic atrophy, Res... |
OMIM:617301 |
Spondylometaphyseal Dysplasia, Axial |
|
Short stature, Anterior rib cupping, Rhizomelia, Proximal femoral metaphyseal irregularity, Dispr... |
OMIM:602271 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Congenital muscular torticollis, Hemivertebrae, Abnormal form of the verte... |
ORPHA:2916 |
Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w... |
OMIM:139210 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Abnormality of the ear, Bilateral cleft lip and palate, Neural tube defect, Abnorma... |
OMIM:600776 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Intellectual Disability, Wolff Type |
|
Microretrognathia, Camptodactyly of finger, Cryptorchidism, Non-midline cleft lip, Thick lower li... |
ORPHA:3080 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Hearing impairment, Kypho... |
ORPHA:90322 |
Glossopharyngeal Neuralgia |
|
Abnormality of the cervical spine, Ear pain, Cranial nerve compression, Schwannoma, Abnormal glos... |
ORPHA:221098 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Short neck, Growth delay, Clinodactyly of the 5th finger,... |
OMIM:244600 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Relative macrocephaly, Cerebellar vermis hypoplasia, Depressed nasal bridge, Sagittal craniosynos... |
ORPHA:459061 |
Pseudodiastrophic Dysplasia |
|
Frontal bossing, Anteverted nares, Micrognathia, Brachycephaly, Malar flattening, Midface retrusi... |
OMIM:264180 |
Pitt-Hopkins Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Short neck, Deep philtrum, Short philtr... |
OMIM:610954 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Anteverted nares, Choanal atresia, Micrognathia, Feeding difficulties in in... |
OMIM:610536 |
Cebalid Syndrome |
|
Turricephaly, Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, Brachycephaly, Pla... |
OMIM:618774 |
Pontocerebellar Hypoplasia, Type 1C |
|
Cerebellar vermis hypoplasia, Respiratory insufficiency, Feeding difficulties, Respiratory failur... |
OMIM:616081 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Brachycephaly, Do... |
ORPHA:369891 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Focal Dermal Hypoplasia |
|
Cleft ala nasi, Anophthalmia, Congenital hip dislocation, Osteopathia striata, Short metatarsal, ... |
OMIM:305600 |
17Q11.2 Microduplication Syndrome |
|
Abnormal dental enamel morphology, Microcephaly, Thin vermilion border, Bifid nose, Malar flatten... |
ORPHA:139474 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te... |
ORPHA:37553 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Prominent fingertip pads, Diabetes mellitus, Single transverse palmar crea... |
ORPHA:391372 |
Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose |
OMIM:122880 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Abnormal spaced incisors, Anteverted nares, Prominent nasal bridge, Broad nasal tip... |
ORPHA:411986 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Brachycephaly,... |
OMIM:234100 |
Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Broad hallux, Protru... |
OMIM:617062 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Everted upper lip vermilion, Abnormality of the dentition, Velopharyngeal ... |
OMIM:182290 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Depressed nasal bridge, Micro... |
ORPHA:404440 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Micrognathia, Flexion contracture, Dislocated radial head, Syndactyly, Promine... |
OMIM:605039 |
Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Furrowed ... |
OMIM:615108 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Cerebral dysmyelination, Respiratory insufficiency, Feeding diff... |
OMIM:611722 |
Achondrogenesis Type 1B |
|
Severe short stature, Anteverted nares, Micromelia, Abnormal enchondral ossification, Short neck,... |
ORPHA:93298 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Feeding difficulties in infancy,... |
ORPHA:819 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Orofaciodigital Syndrome Xvii |
|
Prominent metopic ridge, Median cleft lip, Short stature, Prominent nose, Short neck, High, narro... |
OMIM:617926 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Micrognathia, Brachycephaly, Protruding ear, Coloboma, High palate, Short ... |
OMIM:309500 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora... |
OMIM:304120 |
Chopra-Amiel-Gordon Syndrome |
|
Thin upper lip vermilion, Microcephaly, Cleft lip, Pierre-Robin sequence, Flared nostrils, Brachy... |
OMIM:619504 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Ante... |
ORPHA:438216 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Frontal bossing, Anteverted nares, Prominent nasal bridge, Cam... |
ORPHA:1703 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Proptosis, Hypertelorism |
OMIM:612247 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Tri... |
OMIM:617405 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyse... |
OMIM:251450 |
Koolen-De Vries Syndrome |
|
High, narrow palate, Protruding ear, Vertebral segmentation defect, Microdontia, Thick nasal alae... |
ORPHA:96169 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Cloverleaf skull, Anteverted n... |
OMIM:166250 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Down-sloping shoulders, Abnormality of the nose, Carious teeth... |
ORPHA:1390 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Craniosynostosis, Microcephaly, Cleft palate, Convex nasal ridge |
OMIM:600252 |
15Q Overgrowth Syndrome |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... |
ORPHA:314585 |
Van Den Ende-Gupta Syndrome |
|
Dental crowding, Depressed nasal bridge, Craniosynostosis, Micrognathia, Hypoplasia of the maxill... |
OMIM:600920 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Aqueductal stenosis, Hypoplasia of first ribs, Foo... |
OMIM:154400 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Rocker bottom foot, Simplified gyral pattern, Decreased thalamic volume, High palate, Low-set ear... |
OMIM:619072 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Frontal bossing, Everted upper lip vermilion, Depressed nasal bridge, Abnor... |
OMIM:305100 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Brachycephaly, Anteriorly placed anus, High pal... |
OMIM:211380 |
Warsaw Breakage Syndrome |
|
Single transverse palmar crease, Postnatal growth retardation, Hypoplasia of the cochlea, Optic d... |
OMIM:613398 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Dental crowding, Single transverse palmar crease, Micrognathia, Oligodontia, High palate, Short p... |
OMIM:617061 |
Seckel Syndrome 5 |
|
11 pairs of ribs, Short stature, Selective tooth agenesis, Prominent nasal bridge, Micrognathia, ... |
OMIM:613823 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Decreased response to growth hormone stimulation test, Micrognathia, Downturned corners of mouth,... |
ORPHA:444077 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Frontal bossing, Torticollis, Exaggerated cupid's bow, Posteriorly rotated ears, Spina bifida, Br... |
OMIM:619480 |
Cleft Palate-Lateral Synechia Syndrome |
|
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia |
ORPHA:2016 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
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Respiratory distress, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the cerebellum... |
ORPHA:990 |
Walker-Warburg Syndrome |
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Anophthalmia, Posteriorly rotated ears, Abnormal cortical gyration, Cryptorchidism, Hydrocephalus... |
ORPHA:899 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
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Respiratory distress, Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Mi... |
OMIM:217980 |
Frontometaphyseal Dysplasia 1 |
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Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Anteg... |
OMIM:305620 |
Oculoauriculofrontonasal Syndrome |
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Encephalocele, Pericallosal lipoma, Wide nose, Micrognathia, Microcephaly, Cleft lip, Underdevelo... |
ORPHA:398156 |
Weill-Marchesani Syndrome 1 |
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Depressed nasal bridge, Hypoplasia of the maxilla, Broad skull, Patent ductus arteriosus, Brachyc... |
OMIM:277600 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
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Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Anteverted nares, Prominent... |
ORPHA:2180 |
Auriculocondylar Syndrome |
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Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of t... |
ORPHA:137888 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
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Microcephaly, Micrognathia, Prominent nose, Feeding difficulties, High palate, Hyperplasia of the... |
OMIM:620194 |
Tetrasomy 5P |
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Respiratory distress, Pericallosal lipoma, Anteverted nares, Micrognathia, Wide anterior fontanel... |
ORPHA:3309 |
Desmosterolosis |
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Micromelia, Micrognathia, Pachygyria, Bifid uvula, Low-set, posteriorly rotated ears, Increased b... |
ORPHA:35107 |
Monosomy 5P |
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Microretrognathia, Low-set, posteriorly rotated ears, Finger syndactyly, Short stature, Recurrent... |
ORPHA:281 |
Agnathia-Otocephaly Complex |
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Respiratory distress, Wide nose, Tracheomalacia, Micrognathia, Aglossia, Cleft palate, Holoprosen... |
OMIM:202650 |
Larsen Syndrome |
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Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Conductive hearing impai... |
OMIM:150250 |
Richieri-Costa/Guion-Almeida Syndrome |
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Mandibular prognathia, Microcephaly, Cleft upper lip, Brachycephaly, Cleft palate, Malar flatteni... |
OMIM:268850 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Decreased response to growth hormone stimulation test, Short neck, Hemivertebrae, Brachycephaly, ... |
OMIM:618223 |
Oculocerebrocutaneous Syndrome |
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Anophthalmia, Cleft ala nasi, Congenital hip dislocation, Cryptorchidism, Orbital encephalocele, ... |
OMIM:164180 |
Insulin-Like Growth Factor I, Resistance To |
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Micrognathia, High palate, Long philtrum, Short stature, Delayed skeletal maturation, Wide nasal ... |
OMIM:270450 |
Meier-Gorlin Syndrome 3 |
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Microretrognathia, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Microcephaly,... |
OMIM:613803 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Peripheral axonal neuropathy, Depressed nasal bridge, Optic disc hypoplasia, Short neck, Cupped e... |
OMIM:619955 |
Fibrochondrogenesis 2 |
|
Frontal bossing, Anteverted nares, Micrognathia, Protuberant abdomen, Malar flattening, Short nos... |
OMIM:614524 |
Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Furrowed ... |
OMIM:615109 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro... |
ORPHA:2839 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microcephaly, Micrognathia, Cleft palate, Cerebellar hypoplasia, Agenesis of corpus callosum |
OMIM:616570 |
Distal 17P13.1 Microdeletion Syndrome |
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Flat occiput, Unilateral polymicrogyria, Prominent nasal bridge, Microcephaly, High palate, Hypop... |
ORPHA:319171 |
Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Wide nose, Short stature, Cleft upper lip, Short neck, Rib fus... |
ORPHA:1394 |
Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Osteoart... |
OMIM:177170 |
Muenke Syndrome |
|
Dental malocclusion, Brachycephaly, Plagiocephaly, High palate, Macrocephaly, Malar flattening, C... |
OMIM:602849 |
Basilicata-Akhtar Syndrome |
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Short palm, Tented upper lip vermilion, Anteverted nares, Wide nasal ridge, Abnormal pinna morpho... |
OMIM:301032 |
Anauxetic Dysplasia 2 |
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Metaphyseal dysplasia, Brachydactyly, Short stature, Thoracolumbar kyphoscoliosis, Ovoid vertebra... |
OMIM:617396 |
2P15P16.1 Microdeletion Syndrome |
|
Brachycephaly, Protruding ear, Enlarged thorax, High palate, Bilateral single transverse palmar c... |
ORPHA:261349 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Anteverted nares, Facial palsy, Microcephaly, Brachycephaly, Cleft palate, Dys... |
OMIM:301041 |
Fetal Akinesia Deformation Sequence 2 |
|
Tented upper lip vermilion, Micrognathia, Feeding difficulties in infancy, Wide nasal bridge, Cle... |
OMIM:618388 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
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Thin upper lip vermilion, Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdevelo... |
ORPHA:521308 |
Oculoskeletodental Syndrome |
|
Oligodontia, Thoracic kyphosis, Conductive hearing impairment, Microdontia, Thick nasal alae, Abn... |
ORPHA:557003 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Depressed nasal bridge, Abnormal den... |
ORPHA:96264 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla |
ORPHA:3044 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thin upper lip vermilion, Short stature, Thoracolumbar scoliosis, Underdeveloped nasal alae, Micr... |
OMIM:616549 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Sinusitis, Depressed nasal bri... |
ORPHA:1452 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
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Death in infancy, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Wide mouth, Respirator... |
ORPHA:1194 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Frontal bossing, Anteverted nares, Microcephaly, Flared nostrils, Wide nasal bridge, Cerebral atr... |
OMIM:312170 |
Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Protruding ear, Clinodactyly o... |
OMIM:181270 |
Familial Visceral Myopathy |
|
Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Microcephaly, Micrognathia, Abdo... |
ORPHA:2604 |
Catifa Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Cleft lip, Asthma, Cleft palate, Mild microcephaly, ... |
OMIM:618761 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Upslanted palpebral fissure, Proptosis |
OMIM:618492 |
Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Short stature, Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Pate... |
OMIM:617159 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hyperextensibility of the finger joints, Hip contracture, Severe short stature, Depressed nasal b... |
OMIM:313420 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenata... |
OMIM:259440 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Severe short stature, Optic atrophy, Growth delay, Respiratory fai... |
OMIM:619057 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... |
OMIM:608940 |
Yunis-Varon Syndrome |
|
Flat occiput, Redundant neck skin, Congenital hip dislocation, Anterior concavity of thoracic ver... |
OMIM:216340 |
Juberg-Hayward Syndrome |
|
Wide nose, Severe short stature, Toe syndactyly, Short thumb, Abnormality of the elbow, Abnormal ... |
ORPHA:2319 |
Achondrogenesis, Type Ib |
|
Abdominal distention, Respiratory insufficiency, Stillbirth, Umbilical hernia, Malar flattening |
OMIM:600972 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
6Q16 Microdeletion Syndrome |
|
Abnormal ear morphology, Depressed nasal bridge, Anteverted nares, Micrognathia, Tapered finger, ... |
ORPHA:171829 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Os odontoideum, Joint laxity, Hand muscle atrophy, Lumbar hyperlordosis, Short stature, Spondylol... |
OMIM:600561 |
Ritscher-Schinzel Syndrome 1 |
|
Depressed nasal bridge, Micrognathia, Hydrocephalus, Brachycephaly, Cleft palate, Prominent occip... |
OMIM:220210 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Brachydactyly, Decreased response to growth hormone stimulation test, Tapered fing... |
ORPHA:485405 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... |
OMIM:249710 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Optic disc hypoplasia, Micrognathia, Short neck, Abnormal form o... |
ORPHA:233 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finge... |
OMIM:235510 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... |
OMIM:271650 |
Parc Syndrome |
|
Microretrognathia, Cleft palate |
OMIM:600331 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Death in infancy, Flat occiput, Micrognathia, Abdominal distention, Alv... |
OMIM:235255 |
Jawad Syndrome |
|
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... |
OMIM:251255 |
Weill-Marchesani Syndrome 2 |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Broad skull, Patent ductus arteriosus, Brachyc... |
OMIM:608328 |
Raine Syndrome |
|
Mandibular prognathia, Cerebral calcification, Micrognathia, Brachycephaly, High palate, Choanal ... |
OMIM:259775 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Respiratory distress, Rectal prolapse, Hypoplastic facial bones, Feeding diffi... |
OMIM:619793 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Brachycephaly, Anteriorly placed a... |
OMIM:619148 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure, Abnormal palate morphology, Micrognathia |
ORPHA:75840 |
Squalene Synthase Deficiency |
|
Depressed nasal bridge, Optic nerve hypoplasia, Posteriorly rotated ears, Micrognathia, Bilateral... |
OMIM:618156 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Intestinal malrotation, Micrognathia, Microcephaly, Underdeveloped nasal alae, Deep philtrum, Dep... |
ORPHA:77300 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Clinodactyly, Orofacial cleft,... |
OMIM:180700 |
Anauxetic Dysplasia 3 |
|
Femoral bowing, Oligodontia, Narrow chest, Trident hand, Short metacarpal, Depressed nasal bridge... |
OMIM:618853 |
Frontoocular Syndrome |
|
Epicanthus, Hypotelorism, Upslanted palpebral fissure, Proptosis, Blepharophimosis, Short palpebr... |
OMIM:605321 |
Split Lower Lip |
|
Abnormal lower lip morphology, Lower lip pit, Abnormality of the dentition, Narrow maxilla |
OMIM:183400 |
Schaaf-Yang Syndrome |
|
Mandibular prognathia, Flexion contracture, Short stature, Tapered finger, Cryptorchidism, Low-se... |
OMIM:615547 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Thin upper lip vermilion, Frontal bossing, Anteverted nares, Prominent nasal bridge, Microcephaly... |
OMIM:616801 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Macroglossia, Micrognathia |
ORPHA:1423 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Microtia, third degree, Anophthalmia, Spina bifida, Micrognathia, Aqueduct... |
ORPHA:3412 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Anteverted nares, Deep philtrum, Brachycephaly, Feeding difficulties, Downturned corners of mouth... |
OMIM:618859 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... |
OMIM:184252 |
Dystonia 31 |
|
Abnormal posturing |
OMIM:619565 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Frontal bossing, Abnormal clavicle morphology, Cloverleaf skull, Rhizomelia, Bowing of the long b... |
ORPHA:93267 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Brachydactyly, Anteverted nares, Depressed nasal bridge, Prominent nose, K... |
OMIM:234250 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow pala... |
OMIM:180849 |
Neu-Laxova Syndrome |
|
Osteopenia, Micromelia, Micrognathia, Flexion contracture, Depressed nasal ridge, Pterygium, Pach... |
ORPHA:2671 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thoracic scoliosis, Micrognathia, Short neck, Generalized joint laxity, Co... |
ORPHA:508498 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Facial palsy, Hyperlordosis, Kyphosis, Achilles tendon contr... |
OMIM:606612 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Premature loss of primary teeth, Micro... |
OMIM:617364 |
19P13.13 Microdeletion Syndrome |
|
Brachycephaly, High palate, Vomiting, Anteverted nares, Depressed nasal bridge, Abdominal pain, M... |
ORPHA:357001 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Frontal bossing, Depressed nasal bridge, Optic atrophy, Brachycephaly, Wide nasal bridge, Dysphagia |
OMIM:264470 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Feeding difficulties, Decreased intestinal t... |
OMIM:620045 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Frontal bossing, Aganglionic megacolon, Anteverted nares, Depressed nasal b... |
ORPHA:1051 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Mixed hearing impairment, Scapular winging, Down-sloping shoulders, Tapered fi... |
OMIM:615560 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Neonatal respiratory distress, Prominent nasal bridge, Microcephaly, Micrognathia, Decreased nerv... |
OMIM:618356 |
Bor Syndrome |
|
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... |
ORPHA:107 |
Trisomy 20P |
|
Micrognathia, Short neck, Brachycephaly, Abnormal form of the vertebral bodies, Protruding ear, D... |
ORPHA:261318 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Choanal atre... |
ORPHA:2759 |
Warburg Micro Syndrome 3 |
|
Micrognathia, Microcephaly, Optic atrophy, Brachycephaly, Narrow palate, Downturned corners of mo... |
OMIM:614222 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Frontal bossing, Depressed nasal bridge, Microcephaly, Micrognathia, Cleft palate, Respiratory in... |
OMIM:215100 |
Potocki-Shaffer Syndrome |
|
Turricephaly, Underdeveloped nasal alae, Parietal foramina, Wide nasal bridge, Brachycephaly, Dow... |
OMIM:601224 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Anteverted nares, Persistence of primary teeth, Protruding to... |
OMIM:610253 |
Neu-Laxova Syndrome 2 |
|
Spina bifida, Micrognathia, Microcephaly, Depressed nasal ridge, Cleft palate, Lissencephaly, Hig... |
OMIM:616038 |
Vitamin K Antagonist Embryofetopathy |
|
Brachydactyly, Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Myelomening... |
ORPHA:1914 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Single transverse palmar crease, Deep philtrum, Protruding ear, Short philtrum, Joint contracture... |
OMIM:620098 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Toe syndactyly, Broad hallux, Underdeveloped nasal alae, Long nose, Low hanging columella, Proxim... |
OMIM:184460 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Depressed nasal bridge, Microcephaly, Micrognathia, Bulbous nose, H... |
OMIM:614437 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... |
OMIM:128980 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Enlarged interphalangeal joints, Short metacarpal, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Radio-Tartaglia Syndrome |
|
Dental crowding, Micrognathia, High, narrow palate, High palate, Short philtrum, Conductive heari... |
OMIM:619312 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Mic... |
OMIM:300260 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, Coloboma, High palate, Short philtrum, Clinod... |
OMIM:200990 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Tapered toe, Tapered finger, Celiac disease, Bilateral cryptorchidism, Bulbous nos... |
ORPHA:544488 |
Lamb-Shaffer Syndrome |
|
Mild postnatal growth retardation, Micrognathia, Broad nasal tip, Optic atrophy, Fused cervical v... |
ORPHA:530983 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Cerebellar vermis hypoplasia, Facial palsy, Microcephaly, Abnormality of the tongue muscle, Respi... |
ORPHA:370968 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Neonatal respiratory distress, Depressed nasal bridge, Optic nerve hypoplasia, Prominent nasal br... |
OMIM:618828 |
Antley-Bixler Syndrome |
|
Frontal bossing, Turricephaly, Anteverted nares, Choanal atresia, Craniosynostosis, Narrow mouth,... |
ORPHA:83 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Moebius Syndrome |
|
Respiratory distress, Abnormal nasopharynx morphology, Depressed nasal bridge, Abnormality of the... |
OMIM:157900 |
Chromosome 9P Deletion Syndrome |
|
Micrognathia, Short neck, High, narrow palate, Deep philtrum, High palate, Long toe, Anteverted n... |
OMIM:158170 |
20Q11.2 Microduplication Syndrome |
|
Tented upper lip vermilion, Brachycephaly, Pectus carinatum, Short palm, Abnormal nasal bridge mo... |
ORPHA:363659 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Micrognathia, Hypo... |
OMIM:209885 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Midface retrusion, Depressed nasal bridge, Micrognathia, High palate, ... |
OMIM:613849 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Low-set, posteriorly rotated ears, Frontal bossing, Short stature, Micrognathia, Short neck, Cryp... |
ORPHA:98791 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... |
OMIM:134780 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Hemivertebrae, Simplified gyral pattern, Protruding ear, Downturned co... |
ORPHA:500150 |
Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Hemimegal... |
OMIM:158350 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Cerebral white matter atrophy, Anteverted nares,... |
ORPHA:435638 |
Three M Syndrome 1 |
|
Joint dislocation, Mandibular prognathia, Short neck, Increased vertebral height, Clinodactyly of... |
OMIM:273750 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Osteopenia, Proximal placement of thumb, Short neck, Brachycephaly, Short ... |
OMIM:212066 |
Polyrrhinia |
|
Abnormal external nose morphology, Supernumerary naris, Abnormal nasal bone morphology, Orofacial... |
ORPHA:141091 |
Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, A... |
ORPHA:93323 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Short stature, Maternal diabetes, Abnormality of the middle ear ... |
ORPHA:2549 |
Koolen-De Vries Syndrome |
|
Anteverted ears, High palate, Widely spaced teeth, Prominent fingertip pads, Vertebral fusion, Pr... |
OMIM:610443 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Pe... |
OMIM:101200 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Flat occiput, Feeding difficulties in infancy, Anteriorly placed anus, High... |
OMIM:123790 |
Phaver Syndrome |
|
Broad hallux phalanx, Depressed nasal bridge, Camptodactyly of finger, Joint stiffness, Short thu... |
ORPHA:2876 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Frontal bossing, Death in infancy, Subcortical heterotopia, Remnants of the hyaloi... |
OMIM:614643 |
Bone Marrow Failure Syndrome 3 |
|
Metaphyseal dysplasia, Congenital hip dislocation, Short stature, Hearing impairment, Micrognathi... |
OMIM:617052 |
Lead Poisoning |
|
Delayed eruption of teeth, Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Asthma, C... |
ORPHA:330015 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Dolichocephaly, Hypoplasia of the maxilla, High, narrow palate, Plagioceph... |
ORPHA:1101 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Short neck... |
ORPHA:264450 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Anteverted nares, Depressed na... |
ORPHA:314655 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Deep philtrum, Brachycephaly, High palate, Clinodactyly of the 5th finger, Vertebral fusion, Synd... |
OMIM:227330 |
Lambotte Syndrome |
|
Retrognathia, Preaxial foot polydactyly, Atresia of the external auditory canal, Narrow mouth, In... |
OMIM:245552 |
Mullegama-Klein-Martinez Syndrome |
|
Prominent nose, Micrognathia, Short philtrum, Clinodactyly of the 5th finger, Bifid uvula, Depres... |
OMIM:301022 |
Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Tented upper lip vermilion, Microcephaly, Bulbous nose, Brachycephaly, Nar... |
OMIM:618644 |
Heart Defects-Limb Shortening Syndrome |
|
Accelerated skeletal maturation, Mesomelic/rhizomelic limb shortening, Kyphosis, Disproportionate... |
ORPHA:1354 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac w... |
OMIM:210720 |
Distal Deletion 19P |
|
Hypoplasia of the maxilla, Umbilical hernia, Short philtrum, Cleft palate |
ORPHA:96129 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Frontal bossing, Tented upper lip vermilion, Dental crowding, Depressed nasal bridge, Cleft upper... |
OMIM:612582 |
Tetralogy Of Fallot |
|
Proptosis |
ORPHA:3303 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Frontal bossing, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:224690 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydacty... |
ORPHA:474 |
Intellectual Disability-Short Stature-Hypertelorism Syndrome |
|
Frontal bossing, Wide nose, Anteverted nares, Hypoplasia of the zygomatic bone, Long philtrum |
ORPHA:3074 |
Meckel Syndrome 14 |
|
Microretrognathia, Occipital encephalocele, Anteverted nares, Micrognathia, Abdominal distention,... |
OMIM:619879 |
Wildervanck Syndrome |
|
Facial palsy, Short neck, Meningocele, Fused cervical vertebrae, Pseudopapilledema |
ORPHA:3456 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Midface retrusion, Hypoplasia of the maxilla, S... |
ORPHA:2588 |
Congenital Myopathy 14 |
|
Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Feeding difficulties, ... |
OMIM:618414 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Narrow nasal bridge, Frontal bossing, Micrognathia, Hypoplasia of the ... |
OMIM:259600 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Mandibular prognathia, Death in infancy, Respiratory distress, Gastrostomy tube feeding in infanc... |
OMIM:620278 |
Campomelic Dysplasia |
|
Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Cervical kyphosis, Anterior... |
OMIM:114290 |
Intermediate Nemaline Myopathy |
|
Facial palsy, Multiple prenatal fractures, High, narrow palate, Abnormal thorax morphology, Flexi... |
ORPHA:171433 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Abnormality of the dentition, Microcephaly, Thick lower lip vermilion, Brachycephaly... |
ORPHA:261652 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Frontal bossing, Hearing impairment, Micrognathia, Short neck, Tapered finger, Macrotia, Wide nas... |
OMIM:620250 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Single transverse palmar crease, High, narrow palate, Protruding ear, Abnormal curvatu... |
OMIM:619475 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Absent brainstem auditory responses, Anophthalmia, Foot joint contracture,... |
ORPHA:90321 |
Cherubism |
|
Proptosis |
ORPHA:184 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Pectus excavatum, Clinodactyly, Large fleshy ears, Widely spaced teet... |
OMIM:619092 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Anteverted nares, Microcephaly, Cleft upper lip, Bulbous nose, Wide nasal bridge, Cleft palate, B... |
OMIM:300958 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, Micrognathia, Short neck, Hemivertebrae,... |
ORPHA:96121 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... |
OMIM:300232 |
Faundes-Banka Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Premature thelarche, Micrognathia, Underdeveloped nasa... |
OMIM:619376 |
Craniofrontonasal Dysplasia |
|
Frontal bossing, Craniosynostosis, Microcephaly, Abnormality of the dentition, Depressed nasal ri... |
ORPHA:1520 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Femoral bowing, Tibial bowing, Narrow chest, Neonatal death, Lumbar hyperlo... |
OMIM:616482 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, De... |
OMIM:619026 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared,... |
ORPHA:168555 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... |
ORPHA:2616 |
Mulchandani-Bhoj-Conlin Syndrome |
|
Severe short stature, Posteriorly rotated ears, Hyperlordosis, 2-3 toe syndactyly, Scoliosis, Dol... |
OMIM:617352 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Micrognathia, Feeding difficulties in infancy, Brachycephaly, Downturned corners of mouth, High p... |
OMIM:610759 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Micrognathia, Short neck, Pectus carinatum, Clinodactyly of the 5th finger... |
ORPHA:3082 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Cough, Nasogastric tube feeding in infancy, D... |
ORPHA:90117 |
Coffin-Siris Syndrome 3 |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Microcephaly, Cleft palate, Feeding difficul... |
OMIM:614608 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Respiratory distress, Tented upper lip vermilion, Cerebellar vermis hypoplas... |
OMIM:619383 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Microcephaly, Wide nasal bridge, Cerebral atrophy, Respiratory insufficiency, Respiratory ... |
OMIM:610127 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/Hypoplasia of the patella, Micrognathia, Absent radius... |
ORPHA:3320 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Long nose, Prominent crus of helix, Cleft of chin, Parietal foramina, ... |
OMIM:101400 |
Trisomy 9P |
|
Dental crowding, Microcephaly, Abnormal nasal morphology, Non-midline cleft lip, Brachycephaly, I... |
ORPHA:236 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Multiple joint contractures, Abnormal occipital bone morphology, Simplifie... |
ORPHA:468631 |
Multiple Synostoses Syndrome 3 |
|
Proptosis |
OMIM:612961 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, Hyperlordosis, Spinal rigidity, Respiratory insufficiency due to muscle weakness, R... |
OMIM:161800 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Micrognathia, Pyloric stenosis, Conductive hearing impairment, Sensorineural he... |
ORPHA:261197 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Micrognathia, Metaphyseal chondrodysplasia, Depressed nasal ridge, Metaphyseal cupping of metacar... |
ORPHA:163966 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Depressed nasal bridge, Choanal atresia, Wide anterior fontanel, Hydrocephalus, ... |
OMIM:207410 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Prominent nose, Long nose, Micro... |
ORPHA:2636 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Microcephaly, Malnutrition, Brachycephaly, Cerebral cortical atrophy, Agenesis of corpus callosum... |
OMIM:620200 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Frontal bossing, Dental crowding, Intestinal malrotation, Narrow nose, Repeated pneumothoraces, C... |
OMIM:617602 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re... |
OMIM:619773 |
Diaphanospondylodysostosis |
|
Respiratory distress, Depressed nasal bridge, Micrognathia, Depressed nasal ridge, Cleft palate, ... |
OMIM:608022 |
Distal Deletion 10Q |
|
Micrognathia, Prominent nose, Brachycephaly, High palate, Cavum septum pellucidum, Spina bifida o... |
ORPHA:96148 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Microcephaly, Hypoplasia of the pons, Feeding difficulties, Hypoplasia of the b... |
OMIM:225753 |
White-Sutton Syndrome |
|
Mandibular prognathia, Micrognathia, Brachycephaly, Downturned corners of mouth, Short philtrum, ... |
OMIM:616364 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Brachycephaly, Coronal craniosynostosis... |
OMIM:612289 |
Weaver Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Flat occiput, Single transverse palmar crease, Ac... |
OMIM:277590 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Genu recurvatum, Lens coloboma, Downturned corners of mo... |
OMIM:619539 |
Trisomy 10P |
|
Micrognathia, Abnormality of the ear, Simplified gyral pattern, Orofacial cleft, Hemivertebrae, H... |
ORPHA:171929 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Accelerated skeletal maturation, Irregular vertebral endplat... |
OMIM:618363 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Microcephaly, Wide nasal bridge, Neuronal loss in the cereb... |
ORPHA:168486 |
Intellectual Developmental Disorder, X-Linked 93 |
|
Frontal bossing, Macrotia, Cupped ear, Cryptorchidism |
OMIM:300659 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Redundant neck skin, Short stature, Cryptorchidism, Postaxial foot polydactyly, Deep palmar creas... |
OMIM:301056 |
X-Linked Intellectual Disability, Van Esch Type |
|
Decreased serum testosterone concentration, Short stature, Hypergonadotropic hypogonadism, Crypto... |
ORPHA:163976 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Facial palsy, Hyperlordosis, Long fingers, Respiratory insuffi... |
ORPHA:169186 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... |
ORPHA:3232 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... |
OMIM:253000 |
Bainbridge-Ropers Syndrome |
|
Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge... |
OMIM:615485 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Single transverse palmar crease, Short philtrum, Joint contracture of the 5th finger,... |
ORPHA:363611 |
Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Thick lower lip vermilion, Dental malocclusion, Wide ... |
OMIM:157980 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Mandibular prognathia, Osteopenia, Dental crowding, Metaphyseal widening, Pectus carinatum, Knee ... |
OMIM:620083 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Microcephaly, Abnormal globus pallidus morphology, Brachycephaly, Cleft palate, Feeding difficult... |
OMIM:618603 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pe... |
OMIM:223800 |
Cooper-Jabs Syndrome |
|
Frontal bossing, Anteverted nares, Brachycephaly, Respiratory insufficiency, Anteriorly placed an... |
ORPHA:1488 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormal fifth cranial nerve morphology, Abnormality ... |
ORPHA:353253 |
Stickler Syndrome, Type Ii |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, High, narrow palate, Pierre-Robin sequenc... |
OMIM:604841 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Microcephaly, Hypoplasia of the maxilla, Periodontitis, Malar flattening |
OMIM:231070 |
Renpenning Syndrome |
|
Mandibular prognathia, Prominent nose, High, narrow palate, Short philtrum, Clinodactyly of the 5... |
ORPHA:3242 |
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy |
|
Retrognathia, Wide nasal bridge |
OMIM:619844 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Micrognathia, Short neck, Vertebral segmentation de... |
ORPHA:263508 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Micrognathia, Cleft palate, Feeding difficulties, Bifid uvula, Midface retr... |
OMIM:606164 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Anteverted nares, Microcephaly, Micrognathia, Wide nasal bridge, Cleft palate, Brachycephaly, Ple... |
OMIM:616897 |
Camptodactyly Syndrome, Guadalajara Type 2 |
|
Short stature, Camptodactyly of finger, Short 3rd toe, Pectus excavatum, Cuboid-shaped vertebral ... |
ORPHA:1326 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Short neck, Pectus carinatum, Reduced bone mineral density, Short stature, Abn... |
ORPHA:582 |
Bachmann-Bupp Syndrome |
|
Thin upper lip vermilion, Focal polymicrogyria, Cryptorchidism, Sensorineural hearing impairment,... |
OMIM:619075 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, Elbow contr... |
OMIM:617201 |
X-Linked Intellectual Disability, Wilson Type |
|
Mandibular prognathia, Microcephaly, Brachycephaly, Wide mouth, Thick vermilion border |
ORPHA:85290 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Frontal bossing, Brachycephaly, Cleft palate, Stillbirth, Protuberant abdomen,... |
OMIM:200610 |
Lethal Congenital Contracture Syndrome 11 |
|
Microretrognathia, Flexion contracture, Elbow flexion contracture, Retrognathia, Distal arthrogry... |
OMIM:617194 |
Three M Syndrome 2 |
|
Short neck, Protruding ear, Pectus carinatum, High palate, Long philtrum, Scapular winging, Lumba... |
OMIM:612921 |
Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Clinodactyl... |
OMIM:616580 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of co... |
ORPHA:171703 |
Cerebrooculonasal Syndrome |
|
Low-set, posteriorly rotated ears, Anophthalmia, Postaxial hand polydactyly, Brachycephaly, Abnor... |
ORPHA:66625 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Mandibular prognathia, Prominent nasal bridge, Microcephaly, Pachygyria, Prominent nose, Optic at... |
OMIM:619576 |
Microphthalmia, Syndromic 3 |
|
Anophthalmia, Anterior pituitary hypoplasia, Hemivertebrae, Coloboma, Vertebral hypoplasia, Optic... |
OMIM:206900 |
Radio-Renal Syndrome |
|
Respiratory distress, Depressed nasal bridge, Micrognathia, High, narrow palate, Dyspnea, Downtur... |
ORPHA:3015 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Thin upper lip vermilion, Microcephaly, Wide nasal bridge, Brachycephaly, Multifocal cerebral whi... |
ORPHA:352530 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Feeding difficulties in infanc... |
OMIM:257300 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Short stature, Choanal atresia, Pectus excavatum, Esophageal atresia, Submucous cleft ... |
OMIM:619227 |
Distal Monosomy 7Q36 |
|
Microcephaly, Micrognathia, Non-midline cleft lip, Bulbous nose, Optic atrophy, Cleft palate, Wid... |
ORPHA:1636 |
Triploidy |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Intestinal malrotation, Micrognathia, Short... |
ORPHA:3376 |
Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Abnormality of the dentition, Cleft palate, Micrognathia |
ORPHA:3104 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Episodic tachypnea, Microgna... |
ORPHA:2872 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Short sta... |
ORPHA:50815 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Narrow nasal bridge, Cerebellar vermis hypoplasia, Depressed nasal bridge, Micrognathia, Wide nas... |
OMIM:620073 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Pulmonary em... |
ORPHA:96263 |
Dysmorphism-Cleft Palate-Loose Skin Syndrome |
|
Trigonocephaly, Cleft palate, Micrognathia |
ORPHA:1779 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Depressed nasal bridge, Feeding difficulties in infancy, Abdominal distenti... |
ORPHA:226313 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Severe short stature, Club-shaped proximal femur, Anterior rib cupping, Hyperlordo... |
OMIM:184250 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Broad nasal tip, Malar flattening, Open mouth, Retrognathia, Short nose |
OMIM:613670 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Prominent nasal bridge, Wide nasal bridge, Large fleshy ears, Everted lower lip vermilion, Short ... |
OMIM:619556 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Chorioretinal colobom... |
OMIM:611638 |
Joubert Syndrome 18 |
|
Joint laxity, Occipital encephalocele, Trident pelvis, Bowing of the long bones, Kyphoscoliosis, ... |
OMIM:614815 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Wid... |
OMIM:619736 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Short stature, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossif... |
OMIM:620269 |
Stankiewicz-Isidor Syndrome |
|
Sacral dimple, Micrognathia, Prominent nose, Short thumb, Patent ductus arteriosus, Absent thumb,... |
OMIM:617516 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Brachycephaly, Narrow palate, Short upper li... |
ORPHA:364028 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Death in infancy, Median cleft lip, Depressed nasal bridge, Microcephaly... |
OMIM:241800 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus, Proptosis, Shallow orbits, Orbital craniosynostosis |
OMIM:112240 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc... |
OMIM:608728 |
Isotretinoin Syndrome |
|
Depressed nasal bridge, Micrognathia, Cleft palate, Biparietal narrowing, Spina bifida occulta |
ORPHA:2305 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Redundant neck skin, Apnea, Micrognathia, Proximal femoral metaphyseal i... |
ORPHA:397715 |
Desanto-Shinawi Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Bulbous nose, Brachycephaly, Feeding difficulti... |
OMIM:616708 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Proptosis, Ectropion |
OMIM:242500 |
Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, Brachycephaly, Pe... |
OMIM:619472 |
Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Pyloric stenosis, Patent ductus arteriosus, Hydrocephalus, Brachycephaly, Hypopl... |
OMIM:218350 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Mandibular prognathia, Frontal bossing, Broad nasal tip, Scaphocephaly, Recurrent pneumonia, High... |
OMIM:615637 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Mandibular prognathia, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of th... |
ORPHA:1908 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Tongue fasciculations, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Short stature, Short neck, Tapered finger, Multiple joint d... |
OMIM:618395 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Anteverted nares, Short neck, Abnormality of the endocrine system, Crypt... |
ORPHA:464288 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Feeding difficulties, High palate, Neonatal death, Retrog... |
OMIM:300219 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal s... |
ORPHA:2363 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Short stature,... |
OMIM:147250 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow ches... |
OMIM:616300 |
6Q25 Microdeletion Syndrome |
|
Micrognathia, Microcephaly, Wide nasal bridge, Cleft palate, Plagiocephaly, High palate, Long phi... |
ORPHA:251056 |
Oromandibular Dystonia |
|
Respiratory distress, Abnormality of the temporomandibular joint, Abnormality of the nose, Abnorm... |
ORPHA:93958 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Micrognathia, Short neck, High, narrow palate, Hydrocephalus, Ileus, Growth delay, Congenital con... |
OMIM:620156 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Delayed skelet... |
ORPHA:93324 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Frontal bossing, Agenesis of cerebellar vermis, Anteverted nares, Depressed nasal ... |
ORPHA:228390 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Central apnea, Dental crowding, Microcephaly, Brachycephaly, Cerebral atrophy, Gastroesophageal r... |
OMIM:615031 |
Temple Syndrome |
|
Relative macrocephaly, Frontal bossing, Wide nose, Anteverted nares, Depressed nasal bridge, Micr... |
OMIM:616222 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Downturned cor... |
OMIM:620186 |
Hyperekplexia 4 |
|
Umbilical hernia, Respiratory failure, High palate, Cerebral atrophy |
OMIM:618011 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Frontal bossing, Turricephaly, Aganglionic megacolon, M... |
OMIM:613603 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Apnea, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High pala... |
OMIM:300373 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Optic disc pallor, Wide anterior fontanel, Feeding difficulties, Respiratory fa... |
OMIM:618240 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Micrognathia, Cleft lip, Long neck, Kyphosis, Limited p... |
ORPHA:1724 |
Braddock-Carey Syndrome 2 |
|
Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory c... |
OMIM:619981 |
Prune1-Related Neurological Syndrome |
|
Micrognathia, Feeding difficulties in infancy, Microcephaly, Optic atrophy, Cerebral atrophy, Res... |
ORPHA:544469 |
Robinow-Sorauf Syndrome |
|
Bilateral ptosis, Hypertelorism, Downslanted palpebral fissures, Shallow orbits |
OMIM:180750 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Micrognathia, Cutaneous finger syndactyly, Short philtrum, Clinodactyly of the 5th finger, Anteve... |
OMIM:613026 |
Cog7-Cdg |
|
Micrognathia, Postnatal growth retardation, Short neck, Long fingers, Abnormal finger morphology,... |
ORPHA:79333 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Depressed nasal bridge, Micrognathia, Microcephaly, Brachycephaly, Cleft palate, High palate, Hyp... |
OMIM:156610 |
Schneckenbecken Dysplasia |
|
Cleft palate, Umbilical hernia, Stillbirth, Protuberant abdomen, Macrocephaly, Malar flattening, ... |
OMIM:269250 |
Joubert Syndrome 14 |
|
Encephalocele, Tented upper lip vermilion, Posteriorly rotated ears, Prominent nasal bridge, Post... |
OMIM:614424 |
Frontofacionasal Dysplasia |
|
Encephalocele, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, D... |
ORPHA:1791 |
Kleefstra Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Brachycephaly, Downturned corners of mouth, Ga... |
ORPHA:261494 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Bowel incontinence, Micrognathia, Recurrent p... |
ORPHA:496641 |
Anencephaly 2 |
|
Median cleft lip, Anophthalmia, Anencephaly, Cleft maxillary alveolar ridge, Bifid nose, Median c... |
OMIM:619452 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Depressed nasal bridge, Anteverted nares, Pierre-Robin sequence, Cleft palate, Malar flattening, ... |
OMIM:184840 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Redundant neck skin, Anteverted nares, Single transverse palmar crease, Narrow... |
OMIM:236500 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Depressed nasal bridge, Hypoplasia of the zygomatic bone, Macrocephaly, Malar flattening, Short nose |
ORPHA:2835 |
Autosomal Dominant Robinow Syndrome |
|
Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormality of the gingiva, Hemiverteb... |
ORPHA:3107 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognath... |
OMIM:620369 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Delayed skeletal maturation, Pa... |
OMIM:617604 |
Acrocephalopolydactyly |
|
Short nose, Oxycephaly, Depressed nasal ridge, Protuberant abdomen |
ORPHA:221054 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Mandibular prognathia, Finger syndactyly, Dental crowdi... |
ORPHA:435938 |
Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Optic disc pallor, Neonatal respiratory distress, Anteverted nares, Int... |
OMIM:244450 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... |
ORPHA:266 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Neonatal respiratory distress, Flat occiput, Anteverted nares, Depressed nasal bridge, Protruding... |
OMIM:618797 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ... |
ORPHA:464738 |
Pontine Tegmental Cap Dysplasia |
|
Facial palsy, Head titubation, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis |
OMIM:614688 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Micrognathia, Absent thumb, Short thumb, Sensorineural hearing... |
OMIM:194350 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Anal atresia, Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Mic... |
ORPHA:85199 |
Tick-Borne Encephalitis |
|
Back pain, Stiff neck, Facial palsy, Hearing impairment, Vertigo, Abnormal glossopharyngeal nerve... |
ORPHA:297 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Neonatal short-limb short stature, Severe limb shortening, ... |
OMIM:151210 |
Ck Syndrome |
|
Microretrognathia, Long toe, Lumbar hyperlordosis, Dental crowding, Prominent nasal bridge, Poste... |
ORPHA:251383 |
Trehalase Deficiency |
|
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Clinodactyly, Oligodontia, Conductive hearing impairment, Calvaria... |
OMIM:616331 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Duplication of thumb phalanx, Conical tooth, Carious teeth, Abnormal thumb morphology, Cupped ear... |
OMIM:620192 |
Trisomy 18 |
|
Webbed neck, Pointed helix, Holoprosencephaly, Iris coloboma, Bilateral single transverse palmar ... |
ORPHA:3380 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Redundant neck skin, Proximal placement of thumb, High palate, Thickened helices, Clinodactyly of... |
OMIM:604314 |
Meckel Syndrome |
|
Anophthalmia, Micrognathia, Depressed nasal ridge, Encephalocele, Low-set, posteriorly rotated ea... |
ORPHA:564 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Flat occiput, Micrognathia, High, narrow palate, High palate, Death in childhood, Neonatal respir... |
OMIM:214100 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Redundant neck skin, Single transverse palmar crease, Flexion contracture, Wrist flexion contract... |
ORPHA:254528 |
Craniosynostosis 2 |
|
Frontal bossing, Bicoronal synostosis, Turricephaly, Cleft soft palate, Craniosynostosis, Supernu... |
OMIM:604757 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Congenital muscular torticollis, Webbed neck, Downturned corners of mouth, Conductive hearing imp... |
ORPHA:2215 |
Lig4 Syndrome |
|
Malabsorption, Microcephaly, Micrognathia, Wide nasal bridge, Brachycephaly, Thin vermilion borde... |
ORPHA:99812 |
Rhizomelic Syndrome, Urbach Type |
|
Depressed nasal bridge, Micrognathia, Microcephaly, Wide anterior fontanel, Abnormality of the to... |
ORPHA:3098 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Syndactyly, Brachydactyly, Depressed nasal bridge, Thoracic hypoplasia, Mic... |
OMIM:617895 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Feeding difficulties in infancy, Respiratory insufficiency, Tongue fascicul... |
ORPHA:238329 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature |
ORPHA:2435 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Cleft palate, Downturned corners of mouth, Plagiocephaly, Ectopic anus, Sh... |
ORPHA:94066 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Central apnea, Dental crowding, Microcephaly, Brachycephaly, Cerebral atrophy, Hypoplasia of the ... |
ORPHA:320385 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Depressed nasal bridge, Micrognathia, Lacunar halos around chondrocytes, Cleft ... |
OMIM:256050 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Micrognathia, Depressed nasal ridge, Protruding ear, Webbed neck, High pal... |
ORPHA:261337 |
Stickler Syndrome |
|
Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bridge, Micrognathia, Hypopl... |
ORPHA:828 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Glue ear, Broad nasal tip, Bifid nasal tip, Wide mouth, Growth delay, Short foot, Median pseudocl... |
OMIM:619758 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Communicating hydrocephalus, Crumpled long bones, Bowing of the long b... |
ORPHA:2050 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Sacral dimple, Broad hallux phalanx, Abnormal cortical gyration... |
ORPHA:2211 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue,... |
ORPHA:561 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
Developmental And Epileptic Encephalopathy 48 |
|
Long palpebral fissure, Proptosis, Long eyelashes |
OMIM:617276 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Depressed nasal bridge, Bu... |
OMIM:618430 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t... |
ORPHA:2496 |
Even-Plus Syndrome |
|
Bifid nasal tip, Dysplastic corpus callosum, Depressed nasal ridge, Brachycephaly, High palate, H... |
OMIM:616854 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the pons, Aqueductal stenosis, Partial agenesi... |
OMIM:619512 |
8Q12 Microduplication Syndrome |
|
Narrow mouth, Wide nasal bridge, Brachycephaly, Gastroesophageal reflux, Everted lower lip vermil... |
ORPHA:228399 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Osteoarthritis, Brachycephaly, Pectus carinatum, High palate, Bilater... |
OMIM:615582 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Anteverted nares, Depressed nasal bridge, Pneumonia, Recurrent upper respiratory tract infections... |
OMIM:614069 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Prominent nose, Long nose, Micrognathia, Short neck, Pachygyria, Iris coloboma, Long philtrum, Pr... |
ORPHA:2995 |
Fraser Syndrome |
|
Cleft ala nasi, Dental crowding, Anophthalmia, Orofacial cleft, Vertebral segmentation defect, Hi... |
ORPHA:2052 |
Chromosome 2Q37 Deletion Syndrome |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Brachycephaly, Feeding diff... |
OMIM:600430 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Dental crowding, Anteverted nares, Broad nasal tip, Hypoplasia of the maxi... |
OMIM:617402 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ulnar deviation of the hand, Posteriorly rotated ears, Short stature, Proximal placement of thumb... |
OMIM:620113 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Wide nose, Anteverted nares, Depressed nasal bridge, Microcephaly, Thi... |
OMIM:614607 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Frontal bossing, Low-set, posteriorly rotated ears, Finger syndactyly, Short s... |
ORPHA:2994 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint dislocation, Single transverse palmar crease, Micromelia, Accelerated skeletal maturation, ... |
OMIM:618870 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Hypoplastic ver... |
OMIM:224300 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Simplified gyral pattern, Respiratory insufficiency |
OMIM:618328 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Flat occiput, Micrognathia, Broad nasal tip, Abdominal distention, Alve... |
ORPHA:1655 |
Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Thick lower lip vermilion, Dental malocclusion, Brach... |
ORPHA:2563 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Tracheobroncho... |
OMIM:613458 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Congenital hip dislocation, Short neck, Accelerated skeletal maturation, H... |
ORPHA:373 |
Deafness, Conductive, With Malformed External Ear |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Hypogonadism, Low-set ears, Co... |
OMIM:221300 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Micrognathia, Abnormally large globe, Short neck, Accelerated skeletal maturation, Mu... |
OMIM:245600 |
Ablepharon Macrostomia Syndrome |
|
Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, W... |
ORPHA:920 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Anophthalmia, Esophageal atresia, Hydrocephalus, Patent ductus arteriosus, Hemi... |
ORPHA:77298 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Short neck, Abnormal hand bone o... |
OMIM:200600 |
Mowat-Wilson Syndrome |
|
Uplifted earlobe, Pectus carinatum, Widely spaced teeth, Chorioretinal coloboma, Iris coloboma, S... |
OMIM:235730 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Flat occiput, Micrognathia, Feeding difficulties in infancy, Nasogastric tu... |
ORPHA:177907 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
9P13 Microdeletion Syndrome |
|
Microretrognathia, Anteverted nares, Abnormality of cartilage of external ear, Wide nasal bridge,... |
ORPHA:324313 |
Stevenson-Carey Syndrome |
|
Anteverted nares, Central hypoventilation, Underdeveloped nasal alae, Pierre-Robin sequence, Brac... |
OMIM:611961 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Short thumb, Partial duplication of thumb phalanx, Cupped ear, Xerostomia, Microti... |
OMIM:620193 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Choanal atresia, Prominent nasal bridge, Cleft upper lip, Micrognathia, Fe... |
OMIM:608572 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ... |
ORPHA:239 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Anteverted nares, Single transverse palmar crease, Uplifted earlobe, ... |
OMIM:616449 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Depressed ... |
ORPHA:175 |
Glass Syndrome |
|
Dental crowding, Apnea, Conical tooth, Micrognathia, Long nose, Oligodontia, High palate, Antever... |
OMIM:612313 |
Czeizel-Losonci Syndrome |
|
Single transverse palmar crease, Micrognathia, High palate, Spina bifida occulta, Prominent antit... |
ORPHA:2437 |
Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Sho... |
OMIM:619636 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Frontal bossing, Depressed nasal bridge, Abnormal dental enamel morphology, Aplasia/Hypoplasia of... |
ORPHA:1812 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Wide nose, Short stature, Decreased response to growth hormone stimulation test, Elevated circula... |
OMIM:300845 |
Ring Chromosome 10 Syndrome |
|
Frontal bossing, Aganglionic megacolon, Sandal gap, Micrognathia, Short neck, Pectus excavatum, T... |
ORPHA:1438 |
Peho Syndrome |
|
Tented upper lip vermilion, Tapered finger, Pachygyria, Optic atrophy, Peripheral dysmyelination,... |
OMIM:260565 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Smooth philtrum, Abnormality of the dentition, Carious teeth, Feeding difficul... |
ORPHA:1786 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Thin upper lip vermilion, Prominent nose, Head titubation, Protruding ear, Ankle clonus, Long phi... |
OMIM:619691 |
Carey-Fineman-Ziter Syndrome 1 |
|
Micrognathia, Flexion contracture, Glossoptosis, High palate, Anteverted nares, Depressed nasal b... |
OMIM:254940 |
Zechi-Ceide Syndrome |
|
Wide nose, Cerebellar vermis hypoplasia, Cleft upper lip, Underdeveloped nasal alae, Wide nasal b... |
OMIM:612916 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Frontal bossing, Microcephaly, Prominent nose, Wide nasal bridge, Brachycephaly, Wide mouth, Umbi... |
ORPHA:1292 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Neonatal respiratory distress, Intestinal malrotatio... |
ORPHA:457193 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Short stature, Prominent nasal bridge, Micrognathia, Pectus ex... |
ORPHA:1131 |
Nemaline Myopathy 8 |
|
Death in infancy, Facial palsy, Respiratory failure, Dysphagia, Gastrostomy tube feeding in infancy |
OMIM:615348 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Joint stiffness, Pectus ... |
ORPHA:392 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Frontal bossing, Choanal atresia, Micrognathia, Abnormality of the dentition, High, ... |
ORPHA:2108 |
Melnick-Needles Syndrome |
|
Micrognathia, Narrow chest, Anisospondyly, Short stature, Short thorax, Abnormal rib morphology, ... |
ORPHA:2484 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence |
OMIM:300717 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate... |
ORPHA:2753 |
Bresek Syndrome |
|
Decreased testicular size, Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Hydroce... |
ORPHA:85284 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Anauxetic Dysplasia 1 |
|
Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Barrel-shaped chest, Joint laxi... |
OMIM:607095 |
Tetanus |
|
Respiratory distress, Bowel incontinence, Abdominal pain, Trismus, Tachypnea, Abnormal autonomic ... |
ORPHA:3299 |
Platyspondylic Dysplasia, Torrance Type |
|
Malar flattening, Depressed nasal bridge, Abdominal distention, Cleft palate |
ORPHA:85166 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Death in infancy, Micrognathia, Microcephaly, Downturned corners of mouth, Lissencephaly, Cerebel... |
OMIM:616342 |
Distal Deletion 3P |
|
Anteverted nares, Micrognathia, Microcephaly, Brachycephaly, Cleft palate, Downturned corners of ... |
ORPHA:1620 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly |
OMIM:214300 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Respiratory ... |
OMIM:608647 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Hallux valgus, Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Generali... |
OMIM:618000 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of ... |
OMIM:253010 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, An... |
OMIM:164210 |
Congenital Disorder Of Glycosylation, Type 2V |
|
Thin upper lip vermilion, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Cleft palat... |
OMIM:619493 |
Arthrochalasia Ehlers-Danlos Syndrome |
|
Joint dislocation, Severe short stature, Depressed nasal bridge, Micrognathia, Joint stiffness, A... |
ORPHA:1899 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Choanal atres... |
OMIM:129900 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Micrognathia, Downturned corners of mouth, High palate, Widely spaced teeth, Increased head circu... |
OMIM:300868 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Apnea, Micrognathia, Coloboma, Congenital contracture, Prominent palatine ridg... |
ORPHA:97297 |
Rabin-Pappas Syndrome |
|
Mandibular prognathia, Hypoventilation, Optic nerve hypoplasia, Tracheomalacia, Broad nasal tip, ... |
OMIM:620155 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Malar flattening, Cleft palate, Micrognathia |
OMIM:183700 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palate, Clinodactyly, Fle... |
ORPHA:95699 |
Myasthenic Syndrome, Congenital, 19 |
|
Barrel-shaped chest, Facial palsy, Micrognathia, Spinal rigidity, Distal joint laxity, Respirator... |
OMIM:616720 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased testicular size, Wide nose, Short stature, Decreased response to growth hormone stimula... |
ORPHA:280679 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocatio... |
OMIM:607323 |
Toluene Embryopathy |
|
Micrognathia, Microcephaly, Thin vermilion border, Hypoplasia of the zygomatic bone, Biparietal n... |
ORPHA:1920 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Neuronal loss in basal ganglia, Depressed nasal bridge, C... |
OMIM:604377 |
Lymphatic Malformation 6 |
|
Abnormal pinna morphology, Short stature, Micrognathia, Pectus excavatum, Cupped ear, Hydrocele t... |
OMIM:616843 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Adenoiditis, Flexion contracture, Abnormal form of the vertebral bo... |
ORPHA:581 |
Silver-Russell Syndrome 3 |
|
Frontal bossing, Syndactyly, Short stature, Elbow contracture, Unilateral cryptorchidism, Postnat... |
OMIM:616489 |
Acrofrontofacionasal Dysostosis 2 |
|
Wide nose, Microcephaly, Wide anterior fontanel, Brachycephaly, High palate |
OMIM:239710 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly... |
ORPHA:959 |
8P Inverted Duplication/Deletion Syndrome |
|
Micrognathia, Short neck, High, narrow palate, Aplasia/Hypoplasia of the gallbladder, Clinodactyl... |
ORPHA:96092 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Cloverleaf skull, Depressed nasal bridge, Intestinal malrotation, Choanal a... |
ORPHA:93259 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Severe ... |
ORPHA:90646 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corner... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corner... |
ORPHA:352665 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti... |
OMIM:613662 |
1P36 Deletion Syndrome |
|
Depressed nasal ridge, Brachycephaly, Abnormality of the neck, Conductive hearing impairment, Cli... |
ORPHA:1606 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Short stature, Recurrent fractures, Short neck, Micrognathia, Limitation of joint mobility, Abnor... |
ORPHA:1486 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Median cleft lip, Broad nasal tip, Bifid nasal tip, Meningocele, Brachycephaly, Up... |
ORPHA:1827 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Short stature, Wide nasal bridge, Growth delay, Talipes equinovarus, Camptodactyly, Cervical C2/C... |
OMIM:617333 |
Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Patent ductus arteriosus, Scaphocephaly, Dental malocc... |
OMIM:619149 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Frontal bossing, Dental crowding, Narrow mouth, Brachycephaly, Cerebral atrophy, High palate, Lon... |
OMIM:615539 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... |
OMIM:184400 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Cerebellar vermis hypoplasia, Micrognathia, De... |
OMIM:619720 |
15Q24 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Coloboma, Joi... |
ORPHA:94065 |
Doors Syndrome |
|
Respiratory distress, Short lingual frenulum, Brachycephaly, Downturned corners of mouth, Widely ... |
ORPHA:79500 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Prominent nose, Coxa vara, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Mi... |
ORPHA:2637 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Apne... |
OMIM:608013 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Prominent nasal bridge, Aqueductal stenosis, Hand oligodact... |
ORPHA:1788 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Osteopenia, Dental crowding, Abnormally large globe, High palate, Microdon... |
OMIM:269300 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Micromelia, Abnormal rib morphology, Abnormality of neuronal migration, Join... |
ORPHA:2772 |
Chromosome 17P13.1 Deletion Syndrome |
|
Proximal placement of thumb, Short neck, High, narrow palate, Brachycephaly, Knee flexion contrac... |
OMIM:613776 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Irregularly spaced teeth, Recurrent sinusitis, Umbilical hernia, Bowel diverticulosis, Narrow max... |
OMIM:130000 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Frontal bossing, Broad nasal tip, Microcephaly, Brachycephaly, Feeding difficulties, High palate,... |
ORPHA:3306 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Cerebral calcification, Micrognathia, Carious teeth, Supernumerary tooth, Hypoplasia of the zygom... |
ORPHA:3145 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Feeding difficulties in inf... |
OMIM:618371 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Micrognathia, Microcephaly, Cleft palate, Respiratory insufficiency, Tooth agenesis, Abnormal low... |
ORPHA:1166 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Downturned corners of mouth, Coloboma, Oligodontia, Vertebral segmentation defect, Hi... |
ORPHA:453499 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Smooth philtrum, Respiratory distress, Depressed nasal bridge, Abnormal cortical gyration, Choana... |
OMIM:300968 |
Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Conductive hearing impairment, Short ... |
OMIM:277170 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upp... |
ORPHA:894 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Narrow nasal bridge, Abnormal dental enamel morphology, Elbow dislocation, Aplasia/Hypoplasia of ... |
ORPHA:3236 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Wide nose, Cerebellar vermis hypoplasia, Cleft lip, Wide nasal bridge, Cle... |
ORPHA:217017 |
Mogs-Cdg |
|
Respiratory distress, Absent brainstem auditory responses, Wide nose, Hypoventilation, Apnea, Opt... |
ORPHA:79330 |
Al Kaissi Syndrome |
|
Thin upper lip vermilion, Macrodontia, Depressed nasal bridge, Microcephaly, Broad nasal tip, Hig... |
OMIM:617694 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
High-frequency sensorineural hearing impairment, Abnormal lower motor neuron morphology, Respirat... |
ORPHA:2590 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Proportionate short stature, Carious ... |
OMIM:244460 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Redundant neck skin, Limited elbow movement, Micrognathi... |
OMIM:218040 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Depressed nasal bridge, Wide anterior fontanel, Reye syndrome-like episodes, Dyspnea, Cardiorespi... |
ORPHA:26791 |
Mosaic Trisomy 9 |
|
Micromelia, Micrognathia, Short neck, Hemivertebrae, Finger clinodactyly, High palate, Biparietal... |
ORPHA:99776 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Apnea, Feeding difficulties, Respiratory failure, Poor suck, Thin corpus callosum |
OMIM:616277 |
2Q23.1 Microdeletion Syndrome |
|
Tented upper lip vermilion, Macrodontia, Microcephaly, Brachycephaly, Everted lower lip vermilion... |
ORPHA:228402 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Abnormal cortical gyration, Postaxial polydactyly, Hydrocephalus, Patent ductus... |
OMIM:614576 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Delayed skeletal maturation, Osteoarthr... |
OMIM:602111 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Prominent nose, Bilateral cryptorchidism, Pectus carinatum, Downturned corners of mouth, High pal... |
OMIM:617796 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Facial palsy, Micrognathia, Microcephaly, Diffuse white matter abnormalities, ... |
OMIM:259720 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Severe short stature, Delayed skeletal maturation, Abnormal rib morphology, Abnormal epiphysis mo... |
ORPHA:2643 |
White-Sutton Syndrome |
|
Feeding difficulties in infancy, Hypoplasia of the pons, Brachycephaly, Downturned corners of mou... |
ORPHA:468678 |
Arnold-Chiari Malformation Type I |
|
Functional abnormality of the inner ear, Stiff neck, Areflexia of upper limbs, Myelopathy, Crania... |
ORPHA:268882 |
Chromosome 5P13 Duplication Syndrome |
|
Frontal bossing, Turricephaly, Craniosynostosis, Bulbous nose, Wide nasal bridge, Brachycephaly, ... |
OMIM:613174 |
Cri-Du-Chat Syndrome |
|
Single transverse palmar crease, Short neck, Short metatarsal, Orofacial cleft, Downturned corner... |
OMIM:123450 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Pseudopapilledema |
OMIM:314600 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Wide nose, Overlapping fingers, Short stature, Protruding tongue, Micrognathia,... |
OMIM:608779 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Lactose intolerance, Frontal bossing, Depressed nasal bridge, Megalencephaly, Asthma, Macrocephal... |
ORPHA:457485 |
Microcephaly 8, Primary, Autosomal Recessive |
|
Retrognathia |
OMIM:614673 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Bowing of the long bones, Radial bowing, Micrognathia, Aqueductal ... |
ORPHA:3035 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy |
OMIM:254120 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Depressed nasal bridge, Prominent nasal bridge, Microcephaly, Prominent nose, Deep... |
ORPHA:647 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Fountain Syndrome |
|
Abnormal form of the vertebral bodies, Spina bifida occulta, Short stature, Spina bifida, Gingiva... |
ORPHA:3219 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Dental crowding, Anteverted nares, Prominent nasal bridge, High, narrow pa... |
OMIM:309583 |
Kniest Dysplasia |
|
Respiratory distress, Depressed nasal bridge, Tracheomalacia, Cleft palate, Umbilical hernia, Abn... |
OMIM:156550 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Apnea, Dyspnea, Sensorineural hearing impai... |
OMIM:615636 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hypoventilation, Wide nose, Thoracic scoliosis, Recurrent fractures, Sensorineural hearing impair... |
OMIM:606056 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... |
OMIM:166210 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Short neck, Deep philtrum, Knee flexion contracture, Hypoplasia of the iris, Mi... |
OMIM:619194 |
Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Optic disc pallor, Brachydactyly, Single transverse ... |
OMIM:618950 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Pro... |
ORPHA:235 |
Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Spinal rigidity, Achilles tendon contracture, Respiratory failure, Shoulder girdle ... |
OMIM:604801 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Turricephaly, Wide nasal bridge, High palate, Hypoplasia of the zygomatic ... |
ORPHA:710 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Depressed nasal bridge, Craniosynostosis, Pyloric sten... |
ORPHA:314575 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Thoracic scoliosis, Short stature, Abnormal odontoid process morphology, Abnormali... |
ORPHA:314621 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Relative macrocephaly, Death in infancy, Respiratory distress, Macroce... |
OMIM:184260 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Congenital Myopathy 13 |
|
Hypercapnia, Micrognathia, Microcephaly, Brachycephaly, Cleft palate, Feeding difficulties, Downt... |
OMIM:255995 |
Pontocerebellar Hypoplasia, Type 1F |
|
Depressed nasal bridge, Anteverted nares, Growth delay, Thick vermilion border, Long philtrum, Re... |
OMIM:619304 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Lateral clavicle hook, Brachycephaly, Femoral bowing, Abnormal shoulder morphology,... |
OMIM:274000 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Supernumerary nipple, Underdevelop... |
ORPHA:217346 |
Short-Rib Thoracic Dysplasia 12 |
|
Short neck, Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Holoprosencephaly, Narrow c... |
OMIM:269860 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing, Intrinsic hand muscle atrophy, Increased susceptibility to fractures |
OMIM:304700 |
Hartsfield Syndrome |
|
Encephalocele, Low-set, posteriorly rotated ears, Depressed nasal bridge, Craniosynostosis, Non-m... |
ORPHA:2117 |
Cranioectodermal Dysplasia 2 |
|
Micrognathia, Short neck, Fused teeth, High palate, Widely spaced teeth, Narrow chest, Microdonti... |
OMIM:613610 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Conical tooth, Brachycephaly, Prominent interphalangeal joints, ... |
OMIM:135900 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Abnormal pinna morphology, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palat... |
ORPHA:158687 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Frontal bossing, Prominent nasal bridge, Micrognathia, Malabsorption, Brachy... |
ORPHA:1225 |
Bamforth-Lazarus Syndrome |
|
Retrognathia, Choanal atresia, Cleft palate |
ORPHA:1226 |
Adnp Syndrome |
|
Respiratory distress, Oral-pharyngeal dysphagia, Brachycephaly, Vomiting, Gastroesophageal reflux... |
ORPHA:404448 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Abnormality of the temporomandibular joint, Facial palsy, Protruding tongue, Int... |
ORPHA:258 |
Pontocerebellar Hypoplasia Type 1 |
|
Hypoplasia of the pons, Optic atrophy, Feeding difficulties, Thin corpus callosum, Congenital lar... |
ORPHA:2254 |
Gaucher Disease, Type Ii |
|
Death in infancy, Apnea, Cough, Trismus, Cerebral atrophy, Feeding difficulties, Stridor, Gastroe... |
OMIM:230900 |
Synaptic Congenital Myasthenic Syndromes |
|
Mandibular prognathia, Respiratory distress, Hypoventilation, Neonatal respiratory distress, Faci... |
ORPHA:98915 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea, Abdominal distention, Optic atrophy, Frontotemporal cerebral atrophy |
ORPHA:79097 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Microcephaly, Cleft palate, Orofacial cleft, Widely-space... |
OMIM:601349 |
Thyroid Hemiagenesis |
|
Macroglossia, Umbilical hernia, Constipation, Abdominal distention |
ORPHA:95719 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Single transverse palmar crease, Uplifted earlobe, Micrognathia, Adrenal hypoplasia... |
OMIM:607932 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Prominent nasal bridge, Microcephaly, Carious teeth, Downturned corners of... |
ORPHA:1110 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... |
OMIM:118100 |
Schimke Immuno-Osseous Dysplasia |
|
Depressed nasal bridge, Broad nasal tip, Abdominal distention, Abnormal primary molar morphology,... |
ORPHA:1830 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Aqueductal stenosis, Short neck, Simplified gyral pattern, Narrow chest... |
OMIM:251230 |
Snijders Blok-Fisher Syndrome |
|
Cryptorchidism, Cupped ear, Protruding ear |
OMIM:618604 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Encephalocele, Optic nerve hypoplasia, Periventricular nodular... |
OMIM:603671 |
Vascular Malformation, Primary Intraosseous |
|
Umbilical hernia, Proptosis |
OMIM:606893 |
Juvenile Nasopharyngeal Angiofibroma |
|
Proptosis |
ORPHA:289596 |
D-Bifunctional Protein Deficiency |
|
Osteopenia, Micrognathia, High palate, Long philtrum, Depressed nasal bridge, Delayed skeletal ma... |
OMIM:261515 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Downslanted palpebral fissures, Shallow orbits |
ORPHA:1129 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Corpus callosum atrophy, Prom... |
OMIM:619244 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Apnea, Single transverse palmar crease, Micrognathia, Short neck, Knee flexion c... |
OMIM:601559 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Micrognathia, Microcephaly, Submucous cleft hard palate, Cleft palate, Ret... |
ORPHA:2521 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Alobar holoprosencephaly, Brachycephaly, Plagiocephaly, High palate, Short philtrum, Dolichocepha... |
OMIM:615433 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, Short neck, Bilateral cryptorchidism, High, narrow palate, Preax... |
OMIM:614976 |
Muenke Syndrome |
|
High, narrow palate, Hydrocephalus, Brachycephaly, Plagiocephaly, Macrocephaly, Malar flattening,... |
ORPHA:53271 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Anteverted nares, Prominent nasal bridge, Feeding diff... |
OMIM:615663 |
Cardiospondylocarpofacial Syndrome |
|
Pseudoepiphyses, Conductive hearing impairment, Joint laxity, Anteverted nares, Short stature, De... |
OMIM:157800 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Multiple rib fractures, Microretrognathia, Angulated humerus, Short stature, Recurren... |
OMIM:616229 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Feeding difficulties in infancy, Respiratory insufficiency due to muscle we... |
ORPHA:254875 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Frontal bossing, Flat occiput, Carious teeth, Wide nasal bridge, Protu... |
OMIM:277440 |
Otofaciocervical Syndrome 1 |
|
Mixed hearing impairment, Scapular winging, Down-sloping shoulders, Long neck, Hypoplasia of the ... |
OMIM:166780 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Feeding diff... |
ORPHA:596 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Micrognathia, Delayed skeletal maturation, Bell-shaped thorax, Growth delay, Abnormal posturing, ... |
OMIM:614857 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... |
ORPHA:3258 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Optic disc pallor, Intermittent hyperventilation, Optic nerve hypoplasia, Prominent nasal bridge,... |
OMIM:300749 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Optic nerve hypoplasia, Choanal atresia, Cleft upper lip, High, narrow palate, D... |
OMIM:607597 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Frontal cortical atrophy, Brachycephaly, Macrocephaly |
OMIM:300699 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Midface retrusion, Tented upper lip vermilion, A... |
OMIM:239300 |
Deeah Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Short neck,... |
OMIM:619004 |
Hypoglossia-Hypodactyly Syndrome |
|
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Feeding diffic... |
ORPHA:989 |
Volvulus Of Midgut |
|
Frontal bossing, Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, C... |
OMIM:193250 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Brachycephaly, Respiratory failure, Gastroesophageal reflux, Decreased liver function, Abnormal c... |
ORPHA:70472 |
Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Nasal polyposis, Intestinal malrotation, Abnormal sperm motility, ... |
ORPHA:244 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Tented upper lip vermilion, Anteverted nares, Basal ganglia calcification, Bulbous nose, Optic at... |
OMIM:616505 |
Cog5-Cdg |
|
Posteriorly rotated ears, Short stature, Camptodactyly of finger, Prominent nose, Short neck, Cry... |
ORPHA:263487 |
Dyskeratosis Congenita |
|
Esophageal stenosis, Cerebral calcification, Abnormality of the dentition, Hypoplasia of the maxi... |
ORPHA:1775 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy, Feeding difficulties |
OMIM:616341 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Microcephaly, Carious teeth, Brachycephaly, Dysph... |
OMIM:619229 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Multip... |
OMIM:619795 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Cyclopia, Proptosis, Holoprosencephaly, Hypertelorism |
ORPHA:2165 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Short stature, Severe short stature, Micrognathia, Cryptorchidism, Patent ductus ar... |
OMIM:601186 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Bowing of the long bones, Severe short stature, Posteriorly rotated ears... |
OMIM:224410 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy,... |
OMIM:261540 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Frontal bossing, Depressed nasal bridge, Esophageal diverticulum, Hamartoma of tongu... |
OMIM:617925 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Dental crowding, Clinodactyly, Downturned corners of mouth, Widely spaced teeth, Short philtrum, ... |
OMIM:301044 |
Alg9-Cdg |
|
Villous atrophy, Micrognathia, Brachycephaly, Vomiting, Gastroesophageal reflux, Bifid uvula, Mic... |
ORPHA:79328 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Ectopic pos... |
ORPHA:508488 |
Osteopetrosis With Renal Tubular Acidosis |
|
Thickened calvaria, Micrognathia, Cranial nerve compression, Brachycephaly, High palate, Conducti... |
ORPHA:2785 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Anophthalmia, Micrognathia, Abnormality of the ear, Abnormality of the anus... |
ORPHA:2556 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Neonatal respiratory distress, Short stature, Spina bifida, Micrognathia, Trach... |
ORPHA:1393 |
Tetraploidy |
|
Microcephaly, Micrognathia, Cleft palate, Short philtrum, Biparietal narrowing, Convex nasal ridge |
ORPHA:3305 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Poor appetite, Abdominal pain |
OMIM:616794 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Fibrochondrogenesis |
|
Micromelia, Short neck, Abnormal form of the vertebral bodies, Narrow chest, Broad ribs, Depresse... |
ORPHA:2021 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Nasogastric tube feedin... |
ORPHA:254864 |
Symphalangism, Proximal, 1A |
|
Carpal synostosis, Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalange... |
OMIM:185800 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure, Micrognathia |
OMIM:607598 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Prominent nasal bridge... |
OMIM:616914 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Small intestinal dysmotility, Poor appetite, Abdominal... |
ORPHA:298 |
Distal Deletion 10P |
|
Micrognathia, Microcephaly, Non-midline cleft lip, Wide nasal bridge, Cleft palate, Ectopic anus,... |
ORPHA:1580 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Mandibular prognathia, Wide nasal bridge, Hypoplasia of the zygomatic bone, Umbilical hernia, Smo... |
ORPHA:1778 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Abnormal oral mucosa morphology, Micrognathia, Long nose, High, narrow palate, Underdeveloped nas... |
ORPHA:1968 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Abnorma... |
ORPHA:3455 |
Hypophosphatasia, Childhood |
|
Proptosis |
OMIM:241510 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Cleft palate, Glossoptosis, Long philtrum, Malar flattening |
ORPHA:166100 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Intracerebral periventricular calcifications, Neonatal respiratory distress, Ap... |
OMIM:608836 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Cleft upper lip, Optic atrophy, Wide nasal bridge, Cleft palate, Brachycep... |
OMIM:201180 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Proptosis |
OMIM:616171 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Respiratory distress, Microcephaly, Feeding difficulties, Hypodontia, Hypopl... |
ORPHA:544503 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Frontal bossing, Short stature, Overlapping toe, Dolichocephaly, Short neck, C... |
OMIM:618571 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Tracheomalacia, Micrognath... |
ORPHA:513456 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Death in infancy, Redundant neck skin, Posteriorly rotated ears, Growth delay, Low-set ears, Retr... |
OMIM:611719 |
Treacher Collins Syndrome 3 |
|
Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate, Micrognathia |
OMIM:248390 |
Intellectual Developmental Disorder, Autosomal Recessive 45 |
|
Anteverted nares, Bulbous nose, Wide nasal bridge, Thick vermilion border, Retrognathia |
OMIM:615979 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Microcephaly, Narrow mouth, Patent ductus arteriosus, Cleft palate, Feeding difficulties, Thin ve... |
OMIM:615502 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Micrognathia, Absent frontal sinuses, High, narrow palate, High palate, Par... |
OMIM:119600 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Prominent nose, Bulbous n... |
ORPHA:293725 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Micrognathia, Clinodactyly, Prominent fingertip pads, Anteverted nares, Cleft soft palate, Short ... |
OMIM:618529 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... |
ORPHA:103907 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Gastrointestinal dysmotility, Respiratory failure, Cerebral atrophy, Dysphagia |
OMIM:618637 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Frontal bossing, Depressed nasal bridge, Bulbous nose, Brachycephaly, Wide mouth, Macroglossia, P... |
OMIM:616789 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Anteverted nares, Micrognathia, Postnatal growth retardation, Abnormal thorax morphology, Metaphy... |
ORPHA:73230 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Microretrognathia, Frontal bossing, Depressed nasal bridge, Hydrocephalus, Patent ductus arterios... |
OMIM:220220 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Short palm, Finger syndactyly, Toe syndactyly, Intestinal pseudo-obstruction, Arachnodactyly, Cry... |
ORPHA:73246 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Anteverted nares, Macrotia, Optic atrophy, Hypoplasia of teeth, Growth delay, Microphthalmia, Sho... |
OMIM:234050 |
Trisomy 8Q |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Short neck, Joint stiff... |
ORPHA:1752 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Micrognathia, Microcephaly, Trismus, Bulbous nose, Recurrent pneumonia, Cer... |
OMIM:616271 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Downslanted palpebral fissures, Proptosis, Long eyelashes, Highly arched eyebrow |
OMIM:619451 |
Auriculocondylar Syndrome 3 |
|
Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ... |
OMIM:615706 |
Mosaic Trisomy 8 |
|
Micrognathia, Short neck, Protruding ear, Vertebral segmentation defect, High palate, Narrow ches... |
ORPHA:96061 |
Congenital Disorder Of Glycosylation, Type Il |
|
Frontal bossing, Depressed nasal bridge, Microcephaly, Brachycephaly, Wide mouth, Long philtrum, ... |
OMIM:608776 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carinatum, Knee disloca... |
OMIM:615777 |
Presynaptic Congenital Myasthenic Syndromes |
|
Microretrognathia, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due ... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Microretrognathia, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due ... |
ORPHA:590 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... |
OMIM:619445 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Proptosis |
ORPHA:85172 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Short neck, Micrognathia, Bowing of the legs, Depressed nasal ridge, Pectus carinatum... |
OMIM:271665 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Feeding difficulties in infancy, Respiratory insuffi... |
OMIM:605809 |
Schwartz-Jampel Syndrome |
|
Apnea, Micromelia, Micrognathia, Short neck, Coxa vara, Pectus carinatum, High palate, Wrist flex... |
ORPHA:800 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... |
OMIM:250220 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, K... |
ORPHA:2769 |
Kury-Isidor Syndrome |
|
Frontal bossing, Tented upper lip vermilion, Anteverted nares, Brachycephaly, Feeding difficultie... |
OMIM:619762 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Microcephaly, Underdeveloped nasal alae, High, narrow palate, Micrognathia, Cleft palate |
ORPHA:2516 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Dyspnea, Abdominal distention |
OMIM:174050 |
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Thin upper lip vermilion, Microcephaly, Temporal cortical atrophy, Brachycephaly, Feeding difficu... |
OMIM:618862 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Reduced vital capacity, Orthopnea, Facial palsy, Triceps weakness, Weakn... |
ORPHA:98913 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
Kyphomelic Dysplasia |
|
Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Pterygium, Short ... |
OMIM:211350 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Hennekam Syndrome |
|
Mild postnatal growth retardation, Abnormal oral mucosa morphology, Short philtrum, Narrow chest,... |
ORPHA:2136 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Microretrognathia, Optic disc pallor, Hypergonadotropic hypogonadism, Sensorineural hearing impai... |
OMIM:619737 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Frontal bossing, Depressed nasal bridge, Megalencephaly, ... |
OMIM:100800 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Microcephaly, Prominent crus of ... |
ORPHA:1449 |
3C Syndrome |
|
Micrognathia, Feeding difficulties in infancy, High, narrow palate, Orofacial cleft, Gastroesopha... |
ORPHA:7 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Microretrognathia, Optic neuropathy, Kyphoscoliosis, Pectus excavatum, Sensorineural hearing impa... |
OMIM:620237 |
Short Stature-Micrognathia Syndrome |
|
Joint laxity, Short stature, Rhizomelia, Micrognathia, Accelerated skeletal maturation, Bowing of... |
OMIM:617164 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Diffuse cerebral atrophy, Flat occiput, Microcephaly, Brachycephaly, Plagiocephaly |
ORPHA:2898 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Optic atrophy, Brachycephaly, Aplasia/Hypoplasia of the corpus callosum, Plagiocep... |
ORPHA:272 |
Smith-Lemli-Opitz Syndrome |
|
Diffuse cerebral atrophy, Dental crowding, Micrognathia, Gastrointestinal dysmotility, Partial ag... |
OMIM:270400 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis... |
OMIM:604292 |
Achard Syndrome |
|
Broad skull, Brachycephaly, Micrognathia |
OMIM:100700 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Pyloric stenosis, Cleft palate... |
ORPHA:96184 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Proptosis, Downslanted palpebral fissures |
ORPHA:157965 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Midface retrusion, Frontal bossing, Antevert... |
OMIM:607812 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Microcephaly, Optic atrophy, Feeding difficulties |
ORPHA:26792 |
Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Branchial fistula, Short stature... |
ORPHA:261330 |
Adiposis Dolorosa |
|
Abdominal distention, Constipation |
OMIM:103200 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy, Feeding difficulties, Gastroesophageal reflux, Decreased ... |
OMIM:616974 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Oligodonti... |
OMIM:180500 |
Craniosynostosis 6 |
|
Bicoronal synostosis, Turricephaly, Craniosynostosis, Microcephaly, Parietal foramina, Brachyceph... |
OMIM:616602 |
Acces Syndrome |
|
Supernumerary nipple, Hip dislocation, Tracheoesophageal fistula, Protruding ear, Hip dysplasia, ... |
OMIM:619959 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Abnormal pinna morphology, Micrognathia, Optic atrophy, Gingival overgrowth, Short philtrum, Scol... |
ORPHA:480898 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Respiratory distress, Downturned corners of mouth, Short philtrum, Gastroe... |
OMIM:616268 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Short neck, Deep philtrum, Finger joint hypermobility, Long philtrum, Joint laxity, Depressed nas... |
OMIM:613563 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Enlargement of the ankles, Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:600081 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... |
OMIM:300106 |
Athyreosis |
|
Macroglossia, Constipation, Abdominal distention, Feeding difficulties |
ORPHA:95713 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Anteverted nares, Depressed nasal bridge, Abnormality of the dentition, Deep philtrum, Patent duc... |
OMIM:615398 |
Acrofrontofacionasal Dysostosis |
|
Broad nasal tip, Non-midline cleft lip, Brachycephaly, Cleft palate, Everted lower lip vermilion,... |
ORPHA:1784 |
Poikiloderma With Neutropenia |
|
Joint laxity, Frontal bossing, Depressed nasal bridge, Short stature, Underdeveloped nasal alae, ... |
OMIM:604173 |
Atelosteogenesis Type Ii |
|
Thin upper lip vermilion, Bilateral cleft palate, Micrognathia, Tracheobronchomalacia, Cleft pala... |
ORPHA:56304 |
Primary Effusion Lymphoma |
|
Dyspnea, Abdominal distention, Pleural effusion, Abdominal pain |
ORPHA:48686 |
19P13.3 Microduplication Syndrome |
|
Micrognathia, Microcephaly, Prominent nose, Underdeveloped nasal alae, Cleft palate, Cerebral atr... |
ORPHA:447980 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Depressed nasal brid... |
OMIM:620076 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Bicoronal synostosis, Flat occiput, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons,... |
OMIM:618736 |
Marden-Walker Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Bifid uvula, Arachnodactyl... |
ORPHA:2461 |
X-Linked Hypophosphatemia |
|
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... |
ORPHA:89936 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Abnormal pinna morphology, Broad nasal tip, Short neck, Thickened cortex of long bone... |
ORPHA:488434 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Mosaic Trisomy 1 |
|
Thoracic scoliosis, Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Absent... |
ORPHA:1692 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Carious teeth, Cleft... |
ORPHA:3253 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Brachycephaly, Posterior plagiocephaly, High... |
OMIM:620330 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Abnormally ossified vertebrae, Micr... |
ORPHA:3301 |
Hamamy Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Craniosynostosis, Micrognathia, Dental malocclusion, ... |
OMIM:611174 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Proptosis, Downslanted palpebral fissures, Hypertelorism |
ORPHA:2143 |
Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatarsal, Finger clinodacty... |
OMIM:617137 |
Celiac Disease, Susceptibility To, 1 |
|
Cerebral calcification, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Vomiting,... |
OMIM:212750 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
Van Esch-O'Driscoll Syndrome |
|
Sacral dimple, Depressed nasal bridge, Short stature, Hypogonadotropic hypogonadism, Esophageal a... |
OMIM:301030 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Iris coloboma, Short thumb, Patent duct... |
ORPHA:2712 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... |
OMIM:187760 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Decreased distal sensory nerve acti... |
OMIM:606071 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Optic atrophy, Brachycephaly, Thin vermilion border, Hypoplasia of the zygomatic bone, Long philtrum |
OMIM:614800 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Prominent nose, Abnormal mandible condylar process morphology, Abnormal ethmoid bone morphology, ... |
ORPHA:2976 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Secondary microcephaly, Brachycephaly |
OMIM:309530 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Maternal diabetes, Micrognathia, Short neck, Ovoid thoracolumbar vertebrae,... |
ORPHA:3404 |
Monosomy 9Q22.3 |
|
Short neck, Accelerated skeletal maturation, Palmar pits, Orofacial cleft, Odontogenic keratocyst... |
ORPHA:77301 |
Arthrogryposis Multiplex Congenita 5 |
|
Micrognathia, Short neck, Flexion contracture, Death in infancy, Neonatal respiratory distress, A... |
OMIM:618947 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Epicanthus, Spina bifida occulta, Proptosis, Ptosis |
ORPHA:1185 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Dominant Beta-Thalassemia |
|
Frontal bossing, Depressed nasal bridge, Abnormality of the dentition, Malar prominence, Dyspnea,... |
ORPHA:231226 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Abnormal pinna morphology, Facial palsy, Prominent nasal bridge, Short... |
ORPHA:3068 |
Lambert Syndrome |
|
Wide mouth, Malar flattening, Branchial anomaly, Intrauterine growth retardation |
ORPHA:1296 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Reduced cerebral white matter volume, Microcephaly, Hypoplasia of the corpu... |
OMIM:617977 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Short stature, Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Plagiocephaly, Slender lo... |
OMIM:618265 |
Monosomy 22 |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Wide nose, Aplasia of the thymus, Single tr... |
ORPHA:96123 |
Down Syndrome |
|
Aganglionic megacolon, Depressed nasal bridge, Protruding tongue, Abnormality of the dentition, T... |
ORPHA:870 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Cerebral atrophy, Feeding difficulties, Respirat... |
OMIM:245400 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Short neck, Micrognathia, Hemivertebrae, Pectus carinatum, Hypoplas... |
ORPHA:958 |
Pachyonychia Congenita |
|
Respiratory distress, Natal tooth, Angular cheilitis, Feeding difficulties, Advanced eruption of ... |
ORPHA:2309 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Prominent nose, Short neck, High, narrow palate, Deep philtrum, Brachyceph... |
OMIM:619950 |
White Forelock With Malformations |
|
Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, ... |
ORPHA:2475 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Frontal bossing, Anteverted nares, Prominent nasal bridge, Micrognathia, Open bite, Deep philtrum... |
ORPHA:1974 |
Monosomy 9P |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Micrognathia, Abnormality of the denti... |
ORPHA:261112 |
Thanatophoric Dysplasia, Type I |
|
Frontal bossing, Neonatal respiratory distress, Cloverleaf skull, Hydrocephalus, Temporal lobe dy... |
OMIM:187600 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Abnormal form of the vertebral bodies, Hol... |
ORPHA:818 |
Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Toe syndactyly, Anteverte... |
ORPHA:1512 |
Cornelia De Lange Syndrome 1 |
|
Micrognathia, High, narrow palate, Brachycephaly, Downturned corners of mouth, Widely spaced teet... |
OMIM:122470 |
Ritscher-Schinzel Syndrome 4 |
|
Wide nasal bridge, Narrow palate, Brachycephaly, Wide mouth, Plagiocephaly, Thick vermilion borde... |
OMIM:619435 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Microcephaly, Wide nasal bridge, Brachycephaly... |
ORPHA:521445 |
Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Chorioretinal coloboma, Iris coloboma, F... |
ORPHA:2092 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Osteopenia, Hypergonadotropic hypogonadism, Recurrent shoulder dislocation, Down-sloping shoulder... |
OMIM:212112 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Abnormal external nose morphology, Prominent occiput, Hypoxemia, High palate, Hypoplasia of the z... |
ORPHA:556955 |
Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Upslanted palpebral fissure, Deeply set eye, Proptosis |
OMIM:618707 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Micrognathia, Respiratory insufficiency, High palate, Narrow mouth, Retrognathia... |
OMIM:615959 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Frontal bossing, Anteverted nares, Depressed nasal bridge, Microcephaly, Under... |
OMIM:616835 |
Contractural Arachnodactyly, Congenital |
|
Frontal bossing, Micrognathia, Patent ductus arteriosus, Scaphocephaly, Brachycephaly, High palat... |
OMIM:121050 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Brachycephaly, ... |
OMIM:619995 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Prominent nasal bridge, Proportionate short stature, Precocious puberty, Sensorineura... |
OMIM:619269 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Split hand, Cupped ear, Patellar aplasia, Hand monodacty... |
OMIM:119100 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Short stature, Depressed nasal ridge, Respiratory failure, Limb unde... |
ORPHA:1861 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Short stature, Underdeveloped nasal alae, He... |
ORPHA:2031 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Cerebellar vermis hypoplasia, Narrow mouth, Patent ductus arteriosus, ... |
ORPHA:2962 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prola... |
OMIM:309800 |
Alagille Syndrome |
|
Frontal bossing, Micrognathia, Long nose, Brachycephaly, Short philtrum, Spina bifida occulta |
ORPHA:52 |
Frontonasal Dysplasia 3 |
|
Brachycephaly, Wide nasal bridge, Cleft palate, Underdeveloped nasal alae |
OMIM:613456 |
Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Flat occiput, Anteverted nares, Depressed nasal bridge, Micrognathia, B... |
OMIM:249420 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
X-Linked Intellectual Disability, Armfield Type |
|
Mandibular prognathia, Midface retrusion, Depressed nasal bridge, Micrognathia, Patent ductus art... |
ORPHA:85276 |
Trisomy 17P |
|
Wide nose, Micrognathia, Microcephaly, Prominent nose, Patent ductus arteriosus, Hydrocephalus, O... |
ORPHA:261290 |
Severe Congenital Nemaline Myopathy |
|
Facial palsy, Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ... |
ORPHA:171430 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Depressed nasal bridge, Wide anterior fontanel, Vomiting, Macrocephaly, Neo... |
OMIM:231680 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Overlapping toe, Hearing impairment, Abnormality of the dentition, Carious teeth, Long nose, Thin... |
ORPHA:363444 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Microcephaly, Non-midline cleft lip, Cl... |
ORPHA:1915 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Flat occiput, Anteverted nares, Absent septum pellucidum, Protruding tongue, Microcephaly, Brachy... |
ORPHA:96147 |
Caudal Regression Syndrome |
|
Joint stiffness, Missing ribs, Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, ... |
ORPHA:3027 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Microcephaly, Micrognathia, Broad nasal tip, Cleft palate, Bifid nose, Narrow mouth |
OMIM:239800 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... |
OMIM:610915 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Short neck, Short philtrum, Hypoplasia of the thymus, Conductive hearing impairment... |
ORPHA:567 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Sho... |
OMIM:609053 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat... |
OMIM:618150 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Thin upper lip vermilion, Underdeveloped nasal alae, Cleft palate, Malar flattening, Smooth philtrum |
OMIM:611867 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Depressed nasal bridge, Increased circulating gonadotropin level, Cupped ear, Wide nasal bridge, ... |
OMIM:110100 |
Hydrolethalus Syndrome 2 |
|
Micrognathia, Hydrocephalus, Anencephaly, Cleft palate, Agenesis of corpus callosum |
OMIM:614120 |
Proboscis Lateralis |
|
Anophthalmia, Single naris, Orofacial cleft, Abnormality of the maxillary sinus, High palate, Hol... |
ORPHA:141099 |
Distal Deletion 12Q |
|
Frontal bossing, Median cleft lip, Anteverted nares, Micrognathia, Microcephaly, High, narrow pal... |
ORPHA:96149 |
Lig4 Syndrome |
|
Prominent nose, Microcephaly, Asthma, Brachycephaly, Wide nasal bridge, Chronic sinusitis |
OMIM:606593 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing... |
OMIM:613848 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... |
OMIM:602196 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... |
OMIM:615633 |
Alpha-Mannosidosis, Infantile Form |
|
Mandibular prognathia, Optic disc pallor, Communicating hydrocephalus, Depressed nasal bridge, Pn... |
ORPHA:309282 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... |
OMIM:601596 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Abnormality of the denti... |
OMIM:601088 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Depressed nasal bridge, Micrognathia, Wide nasal bridge, Brachycephaly, Wide mouth, Thin vermilio... |
ORPHA:2062 |
Arthrogryposis And Ectodermal Dysplasia |
|
Abnormal dental enamel morphology, Cleft upper lip, Microcephaly, Brachycephaly, Cleft palate, Or... |
OMIM:601701 |
Congenital Pancreatic Cyst |
|
Abdominal distention, Vomiting, Anorexia, Abdominal pain |
ORPHA:313906 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Delayed tarsal ossification, ... |
OMIM:600002 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Frontal bossing, Midface retrusion, Anteverted nares, Depressed nasal bridg... |
ORPHA:536467 |
Vici Syndrome |
|
Everted upper lip vermilion, Median cleft lip, Depressed nasal bridge, Wide nose, Cleft upper lip... |
OMIM:242840 |
Sialuria |
|
Thin upper lip vermilion, Frontal bossing, Wide nasal bridge, Macrocephaly, Macroglossia, High pa... |
OMIM:269921 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Shoulder girdle muscle we... |
OMIM:607155 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Frontal bossing, Dental crowding, Anteverted nares, Depressed nasal bridge, Microcephaly, Broad n... |
OMIM:617157 |
Phocomelia, Schinzel Type |
|
Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal tibia morphology, Protruding ... |
ORPHA:2879 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Abdominal distention, Patent ductus arteriosus, Diarrhea, Protein-losing entero... |
OMIM:608104 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Spina bifida, Proximal placement of thumb, Abnormal thumb morphology, Short thu... |
ORPHA:1120 |
Emanuel Syndrome |
|
Dental crowding, Micrognathia, High palate, Gastroesophageal reflux, Cough, Agenesis of corpus ca... |
ORPHA:96170 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Short neck, Deep philtrum, Web... |
OMIM:115150 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Choanal atresia, Micrognathia, Patent ductus arteriosus, Cleft palate, Mala... |
OMIM:613309 |
Gaba-Transaminase Deficiency |
|
Retrognathia, Death in childhood |
OMIM:613163 |
Oculomaxillofacial Dysostosis |
|
Median cleft lip, Abnormality of the dentition, Micrognathia, Abnormality of the nose, Underdevel... |
ORPHA:1794 |
Blepharocheilodontic Syndrome 1 |
|
Lagophthalmos, Hypertelorism, Ectropion of lower eyelids, Neural tube defect, Euryblepharon, Dist... |
OMIM:119580 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Proptosis, Downslanted palpebral fissures |
OMIM:618821 |
Cree Mental Retardation Syndrome |
|
Brachycephaly, Cleft soft palate, Micrognathia |
OMIM:606851 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Cryptorchidism, Sensorineural heari... |
ORPHA:139471 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Craniosynostosis, Mi... |
ORPHA:369837 |
16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Frontal bossing, Toe syndactyly, Anteverted nares, Abnormal pinna morphology, ... |
ORPHA:261211 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis, Abnormal posturing |
OMIM:128100 |
Toriello-Carey Syndrome |
|
Neonatal respiratory distress, Aganglionic megacolon, Micrognathia, Feeding difficulties in infan... |
ORPHA:3338 |
19P13.12 Microdeletion Syndrome |
|
Narrow nasal bridge, Anteverted nares, Craniosynostosis, Aplasia/Hypoplasia of the cerebellar ver... |
ORPHA:254346 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
Tarp Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Neonatal death, Antever... |
OMIM:311900 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Choanal atresia, Malabsorption, Abd... |
ORPHA:92050 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Microretrognathia, Wide cranial sutures, Short stature, Recurrent fractures, Pectus e... |
OMIM:616294 |
Orofaciodigital Syndrome Type 10 |
|
Micrognathia, Short neck, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation o... |
ORPHA:2756 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Short stature, Hamartoma of tongue,... |
OMIM:311200 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthri... |
ORPHA:666 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi... |
OMIM:151050 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
17Q24.2 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Short neck, Pineal cyst, Sho... |
ORPHA:529962 |
Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Papilledema, Depressed nasal bridge, Facial palsy, Sclerotic s... |
OMIM:269500 |
Orofaciodigital Syndrome Type 6 |
|
Frontal bossing, Cerebellar vermis hypoplasia, Apnea, Prominent nasal bridge, Hamartoma of tongue... |
ORPHA:2754 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t... |
OMIM:149730 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Frontal bossing, Flat occiput, Protuberant abdomen, Enamel hypoplasia |
OMIM:264700 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Thin upper lip vermilion, Anosmia, Hypoplasia of the zygomatic bone, Abnormal nostril morphology,... |
ORPHA:1295 |
Opitz-Kaveggia Syndrome |
|
Dental crowding, Micrognathia, Prominent nose, Partial agenesis of the corpus callosum, Anteriorl... |
OMIM:305450 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Choanal atresia, Abdominal distention, Optic disc coloboma, Secretory dia... |
OMIM:270420 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the ... |
ORPHA:276422 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Frontal bossing, Lip pit, Microcephaly, Brachycephaly, Hypodontia, Abnorma... |
ORPHA:1236 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Depressed nasal bridge, Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, Prominen... |
OMIM:618500 |
Bloom Syndrome |
|
Pneumonia, Stomach cancer, Micrognathia, Esophageal neoplasm, Poor appetite, Chronic pulmonary ob... |
ORPHA:125 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Decreased response to growth hormone stimulation test, Dilatated internal audit... |
ORPHA:1435 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... |
ORPHA:2911 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Conductive hearin... |
ORPHA:217085 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Choanal atresia, Micrognathia, Brachycephaly, Choanal stenosis, Tooth malposition |
OMIM:156400 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Craniosynostosis, Hiatus hernia, Abnormal zygomatic bone morphology, Pylori... |
ORPHA:3342 |
Primrose Syndrome |
|
Cerebral calcification, Anteverted nares, Depressed nasal bridge, Calcification of the auricular ... |
OMIM:259050 |
Beta-Thalassemia Major |
|
Frontal bossing, Depressed nasal bridge, Abnormality of the dentition, Malar prominence, Dyspnea,... |
ORPHA:231214 |
Marden-Walker Syndrome |
|
Anteverted nares, Micrognathia, Microcephaly, High, narrow palate, Pyloric stenosis, Wide anterio... |
OMIM:248700 |
Zimmermann-Laband Syndrome 2 |
|
Underdeveloped nasal alae, Bifid nasal tip, Deep philtrum, Gingival overgrowth, Macroglossia, Thi... |
OMIM:616455 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Joint laxity, Neonatal respiratory distress, Neonatal insulin-dependent diabetes mellitus, Promin... |
ORPHA:96191 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Peripheral axonal neuropathy, Neonatal respiratory distress, Abnormal cortical gyration, Multiple... |
OMIM:616867 |
Mucolipidosis Ii Alpha/Beta |
|
Anteverted nares, Depressed nasal bridge, Craniosynostosis, Micrognathia, Myelopathy, Recurrent p... |
OMIM:252500 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Micrognathia, Microcephaly, Hydrocephalus, Cleft palate, Hypoplasia of the brainstem, Cerebellar ... |
OMIM:225790 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... |
OMIM:300998 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Swollen lip, Micrognathia, Short neck, Calcaneovalgus deformity, Depressed nasal ridg... |
OMIM:256520 |
Developmental And Epileptic Encephalopathy 75 |
|
Upslanted palpebral fissure, Proptosis, Hypertelorism |
OMIM:618437 |
Alkuraya-Kucinskas Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Hydrocephalus, Aplasia/Hypoplasia of the ... |
OMIM:617822 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Intestinal obstruction, Short stature, Malabsorption, Macrotia, Flexion contrac... |
OMIM:601675 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, High palate, Triphalangeal... |
ORPHA:84 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Short neck, Abnormal nerve conduction velocity, Abnormal vertebral ... |
ORPHA:93473 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Frontal bossing, Neonatal respiratory distress, Dental crowding, Anteverted nares, Depressed nasa... |
OMIM:619005 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Irregularity of vertebral bodies, Conductive hearing impairment, Pap... |
ORPHA:580 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Conductive hearin... |
ORPHA:217093 |
Ohdo Syndrome, Sbbys Variant |
|
Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Microcephaly, Bulbous nose, Cleft... |
OMIM:603736 |
Optic Pathway Glioma |
|
Hydrocephalus, Proptosis |
ORPHA:2086 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Camptodactyly of finger, Decreased nerve conduction velocity, Axo... |
OMIM:604320 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Poor appetite, Microcephaly, Respiratory insufficiency due to muscle weakness, Dyspnea, Diarrhea,... |
ORPHA:352447 |
Diamond-Blackfan Anemia 6 |
|
Micrognathia, Cleft upper lip, Short thumb, Patent ductus arteriosus, Cleft palate, Growth delay,... |
OMIM:612561 |
Floating-Harbor Syndrome |
|
Narrow nasal bridge, Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth, Celi... |
ORPHA:2044 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Anteverted nares, Ovoid vertebral bodies, Short hallux, ... |
ORPHA:1517 |
Opitz Gbbb Syndrome |
|
Abnormal nasopharynx morphology, Cerebellar vermis hypoplasia, Rectourethral fistula, High palate... |
OMIM:300000 |
Say Syndrome |
|
Microcephaly, Cleft palate, Micrognathia |
OMIM:181180 |
Rhombencephalosynapsis |
|
Microretrognathia, Low-set, posteriorly rotated ears, Septo-optic dysplasia, Finger syndactyly, A... |
ORPHA:59315 |
Trichothiodystrophy |
|
Osteopenia, Joint dislocation, Increased bone mineral density, Multiple joint contractures, Crani... |
ORPHA:33364 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Frontal bossing, Enamel hypoplasia, Retrognathia, High palate |
OMIM:617915 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... |
ORPHA:2658 |
Orofaciodigital Syndrome Xvi |
|
Depressed nasal bridge, Apnea, Hamartoma of tongue, Postaxial hand polydactyly, Postaxial foot po... |
OMIM:617563 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Microcephaly, Alveolar ridge overgrowth, Gingival overgrowth, Neuronal... |
OMIM:301072 |
Diabetic Embryopathy |
|
Frontal bossing, Microcephaly, Micrognathia, Hydrocephalus, Cleft palate, Aplasia/Hypoplasia of t... |
ORPHA:1926 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Prominent nose, Long nose, Micrognathia, Clinodactyly of the 5th finger, Hypo... |
ORPHA:3047 |
Leigh Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Respiratory insufficiency, Hepatocellular necros... |
OMIM:256000 |
Alg1-Cdg |
|
Chronic diarrhea, Cerebral atrophy, Respiratory failure, Protein-losing enteropathy, Decreased li... |
ORPHA:79327 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Apnea, Microcephaly, Micrognathia, Asthma, Tachypnea, Pneumothorax... |
ORPHA:2257 |
Diamond-Blackfan Anemia 1 |
|
Micrognathia, Short neck, Depressed nasal ridge, Hypoplastic coccygeal vertebrae, High palate, Na... |
OMIM:105650 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Slender long bone, Abnor... |
ORPHA:1506 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Respiratory failure requiring assisted ventilation, Epiphyseal dysplas... |
ORPHA:1675 |
Trisomy 12P |
|
Turricephaly, Micrognathia, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Everted... |
ORPHA:1699 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Death in infancy, Hypoventilation, Microcephaly, Abdominal distention, Feeding difficulties, Gast... |
OMIM:620275 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Micrognat... |
ORPHA:85184 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte... |
OMIM:619751 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cerebellar vermis hypoplasia, Depressed nasal bridge, Optic atrophy, Brachycephaly, Dysphagia, Po... |
OMIM:612379 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath... |
OMIM:227270 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Micrognathia, Optic atrophy, Gingival overgrowth, Short upper lip, Short philtrum, Scoliosis, Pro... |
OMIM:616875 |
Hypotonia-Cystinuria Syndrome |
|
Growth delay, Frontal bossing, Retrognathia, Dolichocephaly |
ORPHA:163690 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... |
ORPHA:922 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Depressed nasal bridge, Intestinal malrotation, Choanal atresia, Aqueductal... |
ORPHA:93260 |
Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Anteverted nares, Microcephaly, Pierre-Robin sequence, Wide nasal b... |
OMIM:619980 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Micrognathia, Brachycephaly, Posterior rib fusion, Neonatal death, Neonatal respiratory distress,... |
OMIM:265380 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Nasal polyposis, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... |
ORPHA:1201 |
Jacobsen Syndrome |
|
Flat occiput, Micrognathia, Short neck, Flexion contracture, Holoprosencephaly, Chorioretinal col... |
OMIM:147791 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Short stature, Cupped ear, Protruding ear, Growth delay, Macroglossia |
ORPHA:93947 |
Hurler Syndrome |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Hydrocephalus, Crania... |
OMIM:607014 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations, Respiratory failure, Dysphagia |
OMIM:613435 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Depressed nasal bridge, Narrow mouth, Brachycephaly, Cleft palate, Cere... |
OMIM:601353 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Recurrent upper respiratory tract infections, Tachypnea, Respiratory failur... |
OMIM:263000 |
Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Pachygyria, Broad columella, Iris coloboma, Lo... |
ORPHA:2308 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Flat occiput, Short neck, High, narrow palate, Prominent protruding coccyx, Protrudin... |
OMIM:300966 |
Lathosterolosis |
|
Abnormal thoracic spine morphology, Prominent metopic ridge, Toe syndactyly, Anteverted nares, Mi... |
ORPHA:46059 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Short stature, Rhizomelia, Micrognathia, Cleft hard palate, ... |
ORPHA:166016 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Proptosis, Holoprosencephaly |
ORPHA:93274 |
Microhydranencephaly |
|
Hydranencephaly, Proptosis |
OMIM:605013 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Iris coloboma, Cryptorchidism, Submucous cleft hard palate, Single naris, Anosmia, ... |
ORPHA:2250 |
22Q11.2 Duplication Syndrome |
|
Wide nose, Microcephaly, Micrognathia, Depressed nasal ridge, Cleft palate, Midface retrusion, Sm... |
ORPHA:1727 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Abnormality of canin... |
ORPHA:364577 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Thin upper lip vermilion, Progressive microcephaly, Long philtrum |
OMIM:614741 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Recurrent upper respiratory tract infections... |
ORPHA:60032 |
Desbuquois Syndrome |
|
Abnormal eyelash morphology, Proptosis |
ORPHA:1425 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Wide nose, Epistaxis, Microcephaly, Patent ductus arteriosus, Tented philtrum, Bulbous nose, Brac... |
ORPHA:495818 |
Omodysplasia 2 |
|
Frontal bossing, Tented upper lip vermilion, Depressed nasal bridge, Bilateral cleft lip, Microgn... |
OMIM:164745 |
Choanal Atresia |
|
Respiratory distress, Craniosynostosis, Upper airway obstruction, Feeding difficulties, Nasal con... |
ORPHA:137914 |
Congenital Fiber-Type Disproportion Myopathy |
|
Dental crowding, Poor appetite, Micrognathia, Hypercapnia, Nasogastric tube feeding in infancy, I... |
ORPHA:2020 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis, Lissencephaly, Hypoplasia o... |
OMIM:619466 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Prominent nasal bridge, Rocker bottom foot, Micrognathia, Flexion contracture, Wide mouth, Death ... |
OMIM:604273 |
Degcags Syndrome |
|
Osteopenia, Prominent nose, Micrognathia, High palate, Syndactyly, Anteverted nares, Hiatus herni... |
OMIM:619488 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Townes-Brocks Syndrome 2 |
|
Cupped ear, Microtia, Rectovaginal fistula, Scoliosis, Overfolded helix, Spina bifida occulta, An... |
OMIM:617466 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Frontal bossing, Anteverted nares, Micrognat... |
OMIM:247200 |
Faciocardiomelic Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, Dental malocclusion, Wide m... |
OMIM:612731 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Frontal bossing, Micrognathia, Upper airway obstruction, Cleft palate, Glossoptosis, Midface retr... |
ORPHA:440354 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Down-sloping shoulders, Micrognathia, Long nose, Short neck, Long neck, 2-3 toe cutaneous syndact... |
OMIM:301091 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Relative macrocephaly, Frontal bossing, Micrognathia, Feeding difficulties in infancy, Asthma, Cl... |
ORPHA:397590 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Single transverse palmar crease, Micrognathia, Biliary hyperplasia, Choanal... |
ORPHA:83617 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp... |
OMIM:614299 |
Stickler Syndrome, Type I |
|
Arthropathy, Micrognathia, Osteoarthritis, Conductive hearing impairment, Bifid uvula, Anteverted... |
OMIM:108300 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Flat occiput, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Feeding difficulties, Gray... |
OMIM:614887 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Spinocerebellar Ataxia Type 3 |
|
Proptosis |
ORPHA:98757 |
Carey-Fineman-Ziter Syndrome |
|
Cerebral calcification, Anteverted nares, Aplasia/Hypoplasia of the tongue, Facial palsy, Microgn... |
ORPHA:1358 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Frontal bossing, Narrow nasal ridge, Brachycephaly, Narrow mouth, Umbilical hernia, Episodic vomi... |
OMIM:219150 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Tented upper lip vermilion, Prominent nasal bridge, Microcephaly, Brachycephaly, Feeding difficul... |
OMIM:618885 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Fla... |
OMIM:612852 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Esophageal atresia, Tracheoesophageal ... |
OMIM:619859 |
Adenylosuccinase Deficiency |
|
Thin upper lip vermilion, Anteverted nares, Microcephaly, Brachycephaly, Cerebral atrophy, Wide m... |
OMIM:103050 |
Bartsocas-Papas Syndrome |
|
Median cleft lip, Microcephaly, Micrognathia, Underdeveloped nasal alae, Cleft palate, Narrow mou... |
ORPHA:1234 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corpus callosum, Cleft palate... |
OMIM:619074 |
Pfeiffer Syndrome Type 1 |
|
Depressed nasal bridge, Aqueductal stenosis, Brachycephaly, High palate, Short nose, Midface retr... |
ORPHA:93258 |
Alg3-Cdg |
|
Osteopenia, Abnormal pinna morphology, Abnormality of the nose, Abnormality of the endocrine syst... |
ORPHA:79321 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve, Orchitis,... |
ORPHA:449563 |
Houge-Janssens Syndrome 3 |
|
Umbilical hernia, Epicanthus, Proptosis, Hypertelorism |
OMIM:618354 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Abnormal posturing, Increased susceptibility to fractures |
ORPHA:216866 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus, Shallow orbits |
OMIM:224400 |
Holoprosencephaly 3 |
|
Depressed nasal bridge, Proboscis, Microcephaly, Abnormality of the nose, Cleft lip, Single naris... |
OMIM:142945 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Prominent nasal bridge, Oral-pharyngeal dysphagia, Microcephaly, Long nose, Trac... |
OMIM:619184 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Anteverted nares, Prominent n... |
ORPHA:220497 |
Neurotrophic Keratopathy |
|
Diabetes mellitus, Abnormal fifth cranial nerve morphology |
ORPHA:137596 |
Cohen-Gibson Syndrome |
|
Osteopenia, Accelerated skeletal maturation, Flexion contracture, Long ear, Hypoplastic iliac win... |
OMIM:617561 |
Cardiofaciocutaneous Syndrome |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Feeding difficulties in infancy, Hydro... |
ORPHA:1340 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Anteverted nares, Depressed nasal bridge, Abdominal distention, Hypopl... |
OMIM:618528 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Depressed nasal bridge, Reduced cerebral white matter... |
OMIM:280000 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Joint laxity, Tented upper lip vermilion, Facial palsy, Pneumonia, Cryptorchidism, Flexion contra... |
ORPHA:98905 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cerebellar vermis hypoplasia, Micrognathia, Laryngotracheomalacia, Short philtrum, Anteverted nar... |
OMIM:618454 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Feeding difficulties, Death in childhood, Respiratory failure, Stillbirth, Tong... |
OMIM:614922 |
Cdags Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Rectourethral fistula, Parietal foramina, Brachycepha... |
OMIM:603116 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Mandibular prognathia, Malar prominence, Optic atrophy, Wide mouth, Hypoplasia of the zygomatic b... |
ORPHA:2715 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Micrognathia, Preaxial polydactyly, Simplified gyral pattern, Aplasia of... |
OMIM:615948 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Widel... |
ORPHA:268261 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Cervical kyphosis, Decreased palmar creases, Generalized joint laxity, Protruding ear, Abnormal s... |
ORPHA:2953 |
Blomstrand Lethal Chondrodysplasia |
|
Accelerated skeletal maturation, Micrognathia, Narrow chest, Neonatal short-limb short stature, D... |
ORPHA:50945 |
Hutchinson-Gilford Progeria Syndrome |
|
Short lingual frenulum, Dental crowding, Micrognathia, Osteoarthritis, Reduced bone mineral densi... |
ORPHA:740 |
Ogden Syndrome |
|
Microretrognathia, Frontal bossing, Everted upper lip vermilion, Torticollis, Broad hallux, Under... |
ORPHA:276432 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Proptosis, Downslanted palpebral fissures |
ORPHA:2655 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Loeys-Dietz Syndrome 4 |
|
Joint laxity, Torticollis, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the ... |
OMIM:614816 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Frontal bossing, Posteriorly rotated ears, Broad hallux, Bulbous nose, Patent ductus arteriosus, ... |
OMIM:619934 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Short stature, Micrognathia, Short neck, Missing ribs, Hydrocephalus, Ab... |
ORPHA:1834 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Frontal bossing, Dandy-Walker malformation, Wide nose, Depressed nasal bridge, Cleft upper lip, M... |
ORPHA:93271 |
Hypophosphatasia |
|
Bowing of the long bones, Short stature, Recurrent fractures, Craniosynostosis, Abnormal rib morp... |
ORPHA:436 |
Nail-Patella Syndrome |
|
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the later... |
OMIM:161200 |
Bangstad Syndrome |
|
Severe short stature, Abnormally large globe, Insulin-resistant diabetes mellitus, Primary gonada... |
OMIM:210740 |
Huntington Disease-Like 1 |
|
Abnormal shoulder morphology, Abnormal posturing |
ORPHA:157941 |
Isolated Sedoheptulokinase Deficiency |
|
Hypotelorism, Abnormality of globe location, Shallow orbits |
ORPHA:440713 |
Aica-Ribosuria Due To Atic Deficiency |
|
Thin upper lip vermilion, Frontal bossing, Anteverted nares, Prominent nasal bridge, Optic atroph... |
OMIM:608688 |
Mend Syndrome |
|
Redundant neck skin, Micrognathia, High palate, Microretrognathia, Short stature, Broad hallux, C... |
OMIM:300960 |
Acalvaria |
|
Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Abnormality of neuronal migration, Cleft... |
ORPHA:945 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Miscarriage, Microcephaly, Micrognathia, Hydrocephalus, Wide nasal bridge, Cleft p... |
ORPHA:1865 |
Fetal Akinesia Deformation Sequence |
|
Intestinal hypoplasia, Depressed nasal bridge, Micrognathia, Cleft palate, Respiratory insufficie... |
ORPHA:994 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Frontal bossing, Respiratory distress, Depressed nasal bridge, Antev... |
OMIM:618188 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Severe short stature, Anterior rib cupping, Kyphosco... |
OMIM:184253 |
Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Short stature, Craniosynos... |
OMIM:252600 |
White-Kernohan Syndrome |
|
Joint laxity, Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed n... |
OMIM:619426 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Abdominal pain, Productive cough, Nonproductive cou... |
ORPHA:454836 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Respiratory insufficiency, Constipation, Episodic... |
ORPHA:100924 |
Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Long philtrum, ... |
ORPHA:955 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Bulbous nose, Pierre-Robin sequence, Recu... |
OMIM:215150 |
Orofaciodigital Syndrome Type 2 |
|
Apnea, Micrognathia, Tachypnea, Protruding ear, Finger clinodactyly, High palate, Conductive hear... |
ORPHA:2751 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Retrognathia, Supernumerary nipple, Hearing impairment, Protruding ear |
ORPHA:1809 |
Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Brachycephaly, Downturned corners of mouth, High palate, Widely spaced teeth, Ga... |
OMIM:618268 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Irregular dentition, Narrow nose, Micrognathia, Bulbous nose, Asthma, Cleft palate, Feeding diffi... |
OMIM:615656 |
Snakebite Envenomation |
|
Epistaxis, Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory failure, Vomiti... |
ORPHA:449285 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Thin upper lip vermilion, Wide nose, Patent ductus arteriosus, Recurrent up... |
OMIM:607143 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Fibrous Dysplasia Of Bone |
|
Abnormal occipital bone morphology, Abnormal zygomatic bone morphology, Abnormal facial skeleton ... |
ORPHA:249 |
Fetal Akinesia Deformation Sequence 1 |
|
Elbow contracture, Micrognathia, Short neck, High, narrow palate, Congenital contracture, High pa... |
OMIM:208150 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Severe short stature, Abnormally large globe, Cryptorchidism, Retrognathia, Convex nasal ridge, E... |
OMIM:210700 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Micrognathia, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ... |
OMIM:271640 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Cond... |
OMIM:117650 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Abdominal pain |
ORPHA:890 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Brachycephaly, Microcephaly |
OMIM:309541 |
Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Mi... |
OMIM:243605 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Dermatog... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Dermatog... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Dermatog... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Dermatog... |
ORPHA:881 |
Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate, Spina bifida, Micrognathia, Limitation of joint mobility, Op... |
ORPHA:99742 |
Johnson Neuroectodermal Syndrome |
|
Choanal atresia, Facial palsy, Microcephaly, Carious teeth, Bulbous nose, Anosmia, Cleft palate, ... |
ORPHA:2316 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... |
ORPHA:449280 |
Osteogenesis Imperfecta, Type Xv |
|
Short stature, Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fra... |
OMIM:615220 |
Cat-Eye Syndrome |
|
Short stature, Abnormal rib morphology, Hip dysplasia, Chorioretinal coloboma, Microphthalmia, In... |
ORPHA:195 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Apnea, Central hypoventilation, Optic atrophy, Leukoencephalopathy, Feeding difficulties, Respira... |
OMIM:618233 |
Beck-Fahrner Syndrome |
|
Microcephaly, Feeding difficulties in infancy, Brachycephaly, High palate, Macrocephaly, Open mou... |
OMIM:618798 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Short stature, Kyphoscoliosis, Patent ductus arteriosus, Hip dislocation, Wide nasal ... |
OMIM:618005 |
Maternal Phenylketonuria |
|
Anteverted nares, Micrognathia, Microcephaly, Esophageal atresia, Wide nasal bridge, High palate,... |
ORPHA:2209 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Hypoplasia of the zygomatic bone,... |
OMIM:613717 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Severe short stature, Depressed nasal bridge, Osteomalacia, Microg... |
ORPHA:1901 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Frontal bossing, Depressed nasal bridge, Narrow nasal ridge, Micrognathia, Underdeveloped nasal a... |
OMIM:619127 |
Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Anophthalmia, Abnormal finger morphology, Phocomelia, Microgastr... |
ORPHA:2538 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Frontal bossing, Flat occiput, Protuberant abdomen, Enamel hypoplasia |
ORPHA:289157 |
Warburg Micro Syndrome 2 |
|
Prominent nasal bridge, Microcephaly, Optic atrophy, Brachycephaly, Secondary microcephaly, Hypop... |
OMIM:614225 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Proptosis, Hypertelorism |
OMIM:618961 |
Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Torticollis, Small hypothenar eminence, Abnormal pinna morphology, Short neck, Delayed skeletal m... |
OMIM:611929 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency, High palate, Tongue fasciculations, Abnormal per... |
ORPHA:1145 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Wide nose, Anophthalmia, Anteverted nares, Severe short stature, Optic atrophy, Wide nasal bridge... |
ORPHA:2526 |
Intellectual Developmental Disorder, Autosomal Recessive 70 |
|
Retrognathia, Wide nasal bridge |
OMIM:618402 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure, Anorexia |
OMIM:619386 |
Peters Plus Syndrome |
|
Micrognathia, Feeding difficulties in infancy, Brachycephaly, Widely spaced teeth, Spina bifida o... |
ORPHA:709 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Pierre-Robin sequence, Cleft palate, Cervical myelopathy, Restrictive venti... |
OMIM:183900 |
Chops Syndrome |
|
Brachydactyly, Anteverted nares, Short stature, Tracheomalacia, High, narrow palate, Patent ductu... |
OMIM:616368 |
Specc1L-Related Hypertelorism Syndrome |
|
Prominent nasal bridge, Patent ductus arteriosus, Wide nasal bridge, Orofacial cleft, Brachycepha... |
ORPHA:1519 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Anteverted nares, Micrognathia, Feeding difficulties in infancy, Dysplastic corpus callosum, Wide... |
OMIM:618810 |
Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Cough, Dysphagia |
ORPHA:77260 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Telecanthus, Proptosis |
ORPHA:2774 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f... |
OMIM:608670 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Proptosis |
OMIM:617481 |
Lethal Kniest-Like Dysplasia |
|
Wide anterior fontanel, Abnormal cartilage morphology, Abnormal cartilage matrix, Cleft palate, P... |
ORPHA:2347 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Anteverted nares, Supernumerary nipple, Micrognathia, Pectus excavatum, Submuco... |
OMIM:619122 |
Caffey Disease |
|
Proptosis |
ORPHA:1310 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Hypoplastic iliac wing, Capitate-hamate fusion, Postaxial... |
OMIM:225500 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... |
ORPHA:93316 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Lobulated tongue, High palate, Agenesis of corpus callosum, Dandy-Walker malformati... |
ORPHA:2750 |
Roberts Syndrome |
|
Craniosynostosis, Cleft upper lip, Micrognathia, Microcephaly, Underdeveloped nasal alae, Brachyc... |
ORPHA:3103 |
Restrictive Dermopathy 1 |
|
Adrenal hypoplasia, Micrognathia, Flexion contracture, Overtubulated long bones, Neonatal death, ... |
OMIM:275210 |
Microphthalmia, Syndromic 5 |
|
Joint laxity, Ectopic posterior pituitary, Anophthalmia, Short stature, Optic nerve hypoplasia, C... |
OMIM:610125 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Facial ... |
OMIM:211530 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Tachypnea, Cerebral atrophy, Respiratory failure, Death in childhood, Abnormal... |
OMIM:615838 |
Chime Syndrome |
|
Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Depressed nasal ri... |
ORPHA:3474 |
Iniencephaly |
|
Abnormal occipital bone morphology, Orofacial cleft, Holoprosencephaly, Encephalocele, Rhizomelia... |
ORPHA:63259 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Crackles, Abdominal distention, Dyspnea, Chronic diarrhea, Asthma, Bron... |
OMIM:620233 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
Nipah Virus Disease |
|
Nausea and vomiting, Respiratory distress, Anorexia, Recurrent pharyngitis, Cough |
ORPHA:99825 |
Filippi Syndrome |
|
Proptosis |
OMIM:272440 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Flat occiput, Dental crowding, Micrognathia, Deep phi... |
ORPHA:534 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Anteverted nares, Posteriorly rotated ears, Short neck, Bulbous nose... |
ORPHA:1780 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Short stature, Optic nerve hypoplasia, Flexion contracture, Thin ribs, Lissencephaly, Mild short ... |
OMIM:614833 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint dislocation, Hand muscle atrophy, Decreased response to growth hormone stimulation test, Ca... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Joint dislocation, Hand muscle atrophy, Decreased response to growth hormone stimulation test, Ca... |
ORPHA:363958 |
Boomerang Dysplasia |
|
Neonatal death, Hypoplastic nasal septum, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:112310 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Prominent nose, High, narrow palate, Widely spaced teeth, Short philtrum, Gastro... |
OMIM:300967 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Anteverted nares, Prominent n... |
ORPHA:220493 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Conductive hearing impairment, Velopharyngeal insufficiency, No... |
ORPHA:199302 |
Marfan Syndrome |
|
Osteopenia, Dental crowding, Limited elbow movement, Micrognathia, High, narrow palate, Increased... |
ORPHA:558 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Short distal phalanx of finger, Congenital hip dislocation, Missing ribs, Exte... |
ORPHA:1647 |
Cranioectodermal Dysplasia 1 |
|
Frontal bossing, Anteverted nares, Sagittal craniosynostosis, Dolichocephaly, High, narrow palate... |
OMIM:218330 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Micrognathia, Prominent nose, Brachycephaly, Widely spaced teeth, High pal... |
OMIM:612474 |
Marshall Syndrome |
|
Thickened calvaria, Midface retrusion, Anteverted nares, Depressed nasal bridge, Malar flattening... |
OMIM:154780 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Relative macrocephaly, Cerebral white matter atrophy, Microcephaly, Feeding difficulties in infan... |
ORPHA:500055 |
Genitopalatocardiac Syndrome |
|
Microcephaly, Micrognathia, Non-midline cleft lip, Hydrocephalus, Wide nasal bridge, Cleft palate... |
ORPHA:2075 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Congenital Myopathy 22A, Classic |
|
Bilateral ptosis, Synophrys, Deeply set eye, Normal pressure hydrocephalus, Proptosis, Downslante... |
OMIM:620351 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Dental crowding, Joint hypermobility, Narrow nasal ridge, Underdeveloped nasal alae, Micrognathia... |
OMIM:618343 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Microretrognathia, Flat occiput, Anteverted nares, Gastroparesis, Wide nasal bridge, Leukoencepha... |
OMIM:614052 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Ogden Syndrome |
|
Redundant neck skin, Congenital hip dislocation, Apnea, Maternal diabetes, Micrognathia, Short ne... |
OMIM:300855 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short stature, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral... |
ORPHA:2234 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... |
ORPHA:2302 |
Osteogenesis Imperfecta, Type Xi |
|
Brachycephaly, Dentinogenesis imperfecta |
OMIM:610968 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Leukoencephalopathy, Feeding difficulties, Respiratory insufficiency, Respirato... |
OMIM:605711 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Apnea, Central hypoventilation, Feeding difficulties, Chronic constipation, Respiratory failure, ... |
OMIM:619483 |
Congenital Myopathy 10B, Mild Variant |
|
Reduced forced vital capacity, Recurrent pneumonia, Cleft palate, Respiratory failure, High palat... |
OMIM:620249 |
Marbach-Rustad Progeroid Syndrome |
|
Proptosis, Shallow orbits |
OMIM:619322 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Joint contracture of the 5th finger, Pancr... |
OMIM:602782 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Thin upper lip vermilion, Brachydactyly, Depressed nasal bridge, Posteriorly rotated ears, Single... |
ORPHA:466950 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Leukoencep... |
OMIM:220110 |
Chitayat Syndrome |
|
Respiratory distress, Anteverted nares, Depressed nasal bridge, Short columella, Thick vermilion ... |
OMIM:617180 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Single transverse palmar crease, Adrenal hypoplasia, Micrognathia, Rectal prolapse, H... |
OMIM:613177 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microretrognathia, Thin upper lip vermilion, Intestinal malrotation, Hiatus hernia, Pneumothorax,... |
OMIM:601776 |
Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, H... |
ORPHA:206436 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Pleural eff... |
OMIM:182250 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasi... |
OMIM:276820 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Cryptorchidism, Respiratory insufficiency, Thin ribs, High palate, Retrognathia, Joint hypermobility |
ORPHA:456328 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nausea and vomiting, Oral mucosal blisters, Abdominal distention, Congenital pyloric atresia, Ena... |
ORPHA:79403 |
Malaria |
|
Nausea and vomiting, Respiratory distress |
ORPHA:673 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Stiff neck, Thoracic scoliosis, Overlapping fingers, Micrognathia, Short neck, Adduc... |
OMIM:617022 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Bowing of the long bones, Apnea, Recurrent fractures, Premature loss o... |
ORPHA:667 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Prominent nose, Micrognathia, Aplasia of the epiglottis, Protruding ... |
OMIM:268305 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Respiratory distress, Depressed nasal bridge, Pyloric stenosis, Pate... |
ORPHA:363705 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Microdontia, Microretrognathia, S... |
OMIM:278250 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Short stature, Abnormality of the hand, Underdeveloped nasal alae, Cryptorchi... |
OMIM:192430 |
Craniosynostosis 4 |
|
Ectopic posterior pituitary, Depressed nasal bridge, Optic nerve hypoplasia, Sagittal craniosynos... |
OMIM:600775 |
Atelis Syndrome 2 |
|
Frontal bossing, Micrognathia, Diastema, Microcephaly, Patent ductus arteriosus, Thick lower lip ... |
OMIM:620185 |
Septopreoptic Holoprosencephaly |
|
Perisylvian polymicrogyria, Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal enc... |
ORPHA:280195 |
Orofaciodigital Syndrome X |
|
Retrognathia, Depressed nasal bridge, Cleft palate |
OMIM:165590 |
Distal Deletion 9P |
|
Upslanted palpebral fissure, Epicanthus, Proptosis, Hypertelorism |
ORPHA:1642 |
Catel-Manzke Syndrome |
|
Joint dislocation, Single transverse palmar crease, Micrognathia, Short neck, Pectus carinatum, G... |
OMIM:616145 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Microcephaly, Abdominal pain, Dyspnea, Cough |
ORPHA:86812 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Diarrhea, Vomiting, Feeding difficulties |
OMIM:612075 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Midface retrusion, Cleft palate, Micrognathia |
OMIM:300946 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Low-set ears... |
ORPHA:2470 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Short corpus callosum, Tented upper lip vermilion, Brachycephaly, Long philtrum |
OMIM:619972 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Wide nose, Cerebral calcification, Microcephaly, Patent ductus arteriosus, ... |
OMIM:617303 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Mgat2-Cdg |
|
Respiratory distress, Dental crowding, Gastroparesis, Patent ductus arteriosus, Low hanging colum... |
ORPHA:79329 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Dental crowding, Micrognathia, Cleft hard palate, Short neck, Clinodactyly of the 5th finger, Con... |
OMIM:300990 |
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features |
|
Microretrognathia, Frontal bossing, Abnormal pinna morphology, Short stature, Abnormal cortical g... |
OMIM:177980 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Diastema, Deep philtrum, Talon cusp, Optic atrophy, Cleft palate, Plagiocephaly, Microdontia |
OMIM:605282 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Microcephaly, Optic atrophy, Feeding difficulties, Death in childhood |
OMIM:615597 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Disproportionate short... |
OMIM:619698 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Dysphagia, Cough, Pleural ... |
ORPHA:50251 |
Toriello-Lacassie-Droste Syndrome |
|
Epicanthus, Telecanthus, Blepharophimosis, Eyelid coloboma, Abnormal conjunctiva morphology, Prop... |
ORPHA:3339 |
Gapo Syndrome |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Facial palsy, Micrognathia, High, narr... |
OMIM:230740 |
Fryns Syndrome |
|
Tented upper lip vermilion, Ectopic pancreatic tissue, Single transverse palmar crease, Proximal ... |
OMIM:229850 |
Malignant Peritoneal Mesothelioma |
|
Dyspnea, Abdominal distention, Ileus, Abdominal pain |
ORPHA:168811 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... |
ORPHA:2167 |
Mend Syndrome |
|
Prominent nasal bridge, Abnormal auditory evoked potentials, Asymmetry of the mouth, Micrognathia... |
ORPHA:401973 |
Distal Duplication 17Q |
|
Thin upper lip vermilion, Frontal bossing, Depressed nasal bridge, Micrognathia, Microcephaly, Cl... |
ORPHA:3379 |
Prolidase Deficiency |
|
Depressed nasal bridge, Micrognathia, Carious teeth, Depressed nasal ridge, Hypoplasia of the zyg... |
ORPHA:742 |
Dubowitz Syndrome |
|
Single transverse palmar crease, Micrognathia, Protruding ear, Hypoplasia of the iris, High palat... |
OMIM:223370 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Poor appetite, Microcephaly, Reye syndrome-like episodes, Diarrhea, Feeding... |
ORPHA:927 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cerebral white matter atrophy, Myelopathy, Leukoencephalopathy, Cervical myelopathy, Bradypnea, R... |
OMIM:617186 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Feeding difficulties, Stridor, Vo... |
ORPHA:137935 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Proptosis |
OMIM:618346 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Asymmetry ... |
OMIM:619124 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Micrognathia, Microcephaly, Alob... |
OMIM:301043 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Protruding ear, High palate, Hypothyroidism, Simple ear, Joint laxity, Anteverted n... |
OMIM:619325 |
Craniofrontonasal Syndrome |
|
Frontal bossing, Abnormality of the dentition, Cleft upper lip, Bifid nasal tip, Wide nasal bridg... |
OMIM:304110 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Multiple joint contractures, Short neck, Metaphyseal widening, Irregular ve... |
ORPHA:99646 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Respiratory insuffic... |
ORPHA:70 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Small thenar eminence, T... |
OMIM:211960 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abdominal distention |
ORPHA:369 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short stature, Short neck |
ORPHA:2578 |
20Q13.33 Microdeletion Syndrome |
|
Epicanthus, Highly arched eyebrow, Hypertelorism, Upslanted palpebral fissure, Proptosis, Downsla... |
ORPHA:261311 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Shallow orbits |
OMIM:617306 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Frontal bossing, Neonatal respiratory distress, Short lingual frenulum, Depressed nasal bridge, W... |
OMIM:619479 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Respiratory insufficiency, Re... |
OMIM:276950 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Opitz Gbbb Syndrome |
|
Micrognathia, Feeding difficulties in infancy, High palate, Agenesis of corpus callosum, Recurren... |
ORPHA:2745 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura... |
ORPHA:93317 |
Spinocerebellar Ataxia Type 1 |
|
Optic atrophy, Respiratory failure, Dysphagia, Abnormal nerve conduction velocity, Abnormality of... |
ORPHA:98755 |
Craniopharyngioma |
|
Nausea and vomiting, Papilledema, Cerebral calcification, Abnormal nasal bone morphology, Hydroce... |
ORPHA:54595 |
Xylt1-Cdg |
|
Joint dislocation, Joint laxity, Short stature, Accelerated skeletal maturation, Coxa valga, Flar... |
ORPHA:370930 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Micrognathia, Cleft upper lip, Abnormal rib morphology, Cleft palate, Abnormality ... |
OMIM:601076 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Microcephaly, Cerebral atrophy, Feeding difficulties, Dysphagia, Death in childhood, Respiratory ... |
OMIM:619847 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Brachycephaly, Downturned corners of mouth, Parietal bossing, Agenesis of corpus ca... |
OMIM:264090 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Brachycephaly, Craniosynostosis |
OMIM:614416 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
X-Linked Intellectual Disability, Seemanova Type |
|
Cryptorchidism, Retrognathia, Hypogonadism, High palate, Macrotia |
ORPHA:85323 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Recurrent up... |
ORPHA:583 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, High palate |
OMIM:620011 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Nonproductive cough, Dyspnea, X... |
ORPHA:85443 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption |
OMIM:606824 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... |
ORPHA:85167 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure, Nausea |
ORPHA:71211 |
Kosaki Overgrowth Syndrome |
|
Xanthelasma, Proptosis, Downslanted palpebral fissures, Ptosis |
OMIM:616592 |
46,Xy Sex Reversal 4 |
|
Anteverted nares, Micrognathia, Prominent nose, Depressed nasal ridge, Cleft palate, High palate,... |
OMIM:154230 |
Chromosome 17Q12 Deletion Syndrome |
|
Mandibular prognathia, Frontal bossing, Long toe, Depressed nasal bridge, Short stature, Microgna... |
OMIM:614527 |
Opsismodysplasia |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Respiratory insufficiency, Protuberant... |
OMIM:258480 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Dysphagia |
OMIM:613561 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Concave nasal ridge, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Alg11-Cdg |
|
Gray matter heterotopia, Scoliosis, Long philtrum, Retrognathia, Hearing impairment |
ORPHA:280071 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Tarsal synostosis, Spina bifida, Camptodactyly of finger, Pectus excavatum, Hi... |
ORPHA:957 |
Immunodeficiency 54 |
|
Short stature, Postnatal growth retardation, Respiratory insufficiency, Adrenocorticotropic hormo... |
OMIM:609981 |
Humero-Radial Synostosis |
|
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Meningocele, Limitation of... |
ORPHA:3265 |
Tularemia |
|
Respiratory distress, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Oral ulcer, Cough, P... |
ORPHA:3392 |
Sepsis In Premature Infants |
|
Abnormal mucociliary clearance, Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Dys... |
ORPHA:90051 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short stature, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydact... |
OMIM:613091 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Pectus carinatum, Downturned corners of mouth, Knee flexion contracture, Clinodactyly of the 5th ... |
ORPHA:488642 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Wide nose, Anteverted nares, Microcephaly, Rectal prolapse, Thick lower li... |
OMIM:303600 |
Riddle Syndrome |
|
Pneumonia, Abdominal pain, Microcephaly, Neonatal asphyxia, Diarrhea, Recurrent pneumonia, Abnorm... |
ORPHA:420741 |
Kagami-Ogata Syndrome |
|
Pursed lips, Frontal bossing, Respiratory failure requiring assisted ventilation, Depressed nasal... |
ORPHA:254519 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Lissencephaly, Cerebellar hypoplasia, Secondary microcephaly, Long philtrum... |
ORPHA:50810 |
Cleft Lip And Alveolus |
|
Lip pit, Abnormal pattern of respiration, Abnormal nasal morphology, Hypodontia, Dysphagia, Abnor... |
ORPHA:141291 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Macrocephaly, Hydrocephalus, Protuberant abdomen, Microcephaly |
OMIM:613330 |
Liver Disease, Severe Congenital |
|
Macrocephaly at birth, Chronic gastritis, Depressed nasal bridge, Pneumonia, Narrow nasal ridge, ... |
OMIM:619991 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Cerebellar vermis hypoplasia, Prominent nose, Brachycephaly, Abnormal perio... |
ORPHA:480880 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Abdominal pain, Feeding difficulties, Respiratory failure, Dysphagia |
OMIM:620166 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microcephaly, Neonatal asphyxia, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Microdontia |
ORPHA:2728 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Micrognathia, Cleft lip, Patent ductus... |
OMIM:616894 |
Keppen-Lubinsky Syndrome |
|
Narrow nasal bridge, Tented upper lip vermilion, Micrognathia, Microcephaly, Underdeveloped nasal... |
ORPHA:435628 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, Short neck, Large fleshy ears, High palate, Narrow chest, Prominent s... |
ORPHA:280633 |
Acrorenal-Mandibular Syndrome |
|
Micrognathia, Hemivertebrae, Narrow chest, Hypoplasia of the ulna, Split hand, Split foot, Toe sy... |
OMIM:200980 |
Tyshchenko Syndrome |
|
Proptosis, Ptosis |
OMIM:615102 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Abnormal thymus morphology, High palate, Lumbar hemivertebrae, Abnormal bone ossifica... |
ORPHA:2463 |
Frontal Encephalocele |
|
Encephalocele, Spina bifida, Hydrocephalus, Dolichocephaly, Calvarial skull defect |
ORPHA:1931 |
Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge... |
ORPHA:93924 |
Dysostosis Multiplex, Ain-Naz Type |
|
Abdominal distention, Thin corpus callosum |
OMIM:619345 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Hypertelorism, Sparse eyebrow, Upslanted palpebral fissure, Proptosi... |
ORPHA:457359 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Anorexia, Crackles, Nonproductive cough, Dyspnea, W... |
ORPHA:1302 |
Vacterl/Vater Association |
|
Low-set, posteriorly rotated ears, Occipital encephalocele, Finger syndactyly, Abnormal intervert... |
ORPHA:887 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Proptosis, Ptosis |
ORPHA:1323 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Selective tooth agenesis, Narrow nose, Cleft upper lip, Ca... |
OMIM:164200 |
Benign Schwannoma |
|
Intestinal polyposis, Nasal polyposis, Facial palsy, Hearing abnormality, Schwannoma, Vertigo, Pe... |
ORPHA:252164 |
Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Anteverted nares, Cleft lip, Patent ductus arteriosus, High palate, Lissenceph... |
OMIM:251290 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... |
ORPHA:160148 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Septo-optic dysplasia, Ectopic posterior pituitary, Decreased response to growth horm... |
ORPHA:95494 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Short stature, Prominent nasal... |
ORPHA:1587 |
Leigh Syndrome |
|
Multiple joint contractures, Sensorineural hearing impairment, Optic atrophy, Abnormal thalamic M... |
ORPHA:506 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Caudate atrophy, Respiratory failure, Cerebral atrophy |
ORPHA:363400 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Wide nose, Frontal bossing, Dental crowding, Brachycephaly, Narrow pala... |
OMIM:616078 |
Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Craniosynostosis, Narrow mouth, Patent ductus a... |
ORPHA:1272 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure, Polymicrogyria, Microcephaly |
OMIM:610678 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Short stature, Limited elbow move... |
OMIM:617809 |
Fraser Syndrome 2 |
|
Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Abdominal distention, Rectal atresi... |
OMIM:617666 |
Jackson-Weiss Syndrome |
|
Proptosis |
OMIM:123150 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Proptosis |
OMIM:614078 |
Arthrogryposis, Impaired Intellectual Development, And Seizures |
|
Microretrognathia, Camptodactyly of finger, Hip dislocation, Knee dislocation, Scoliosis, Arthrog... |
OMIM:615553 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Female hypogonadism, Cholelithiasis, Decreased circulatin... |
OMIM:240300 |
Prolidase Deficiency |
|
Hypertelorism, Proptosis, Ptosis |
OMIM:170100 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Dandy-Walker malformation, Agyria, Optic nerve hypoplasia, Type II lisse... |
OMIM:236670 |
Graves Disease, Susceptibility To, 1 |
|
Proptosis |
OMIM:275000 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Proptosis |
OMIM:604804 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Nausea and vomiting, Respiratory distress, Anorexia, Abdominal pain, Optic atrophy, Feeding diffi... |
ORPHA:79312 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Exaggerated cupid's bow, Apnea, Anorexia, Oral-pharyngeal dysphagia, Abdomi... |
ORPHA:2131 |
Nephrotic Syndrome, Type 1 |
|
Pyloric stenosis, Neonatal respiratory distress, Gastroesophageal reflux, Abdominal distention |
OMIM:256300 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Erosion of oral mucosa, Abnormal oral mucosa morphology, Pneumonia, Dyspnea... |
ORPHA:79404 |
Lethal Congenital Contracture Syndrome 9 |
|
Thoracic kyphoscoliosis, Elbow extension contracture, Ulnar deviation of the hand, Anteverted nar... |
OMIM:616503 |
Macrocephaly-Developmental Delay Syndrome |
|
Mandibular prognathia, Frontal bossing, Microretrognathia, Craniosynostosis, Scaphocephaly, Recur... |
ORPHA:397612 |
Orofaciodigital Syndrome Iv |
|
Hamartoma of tongue, Accessory oral frenulum, Micrognathia, Porencephalic cyst, Cleft palate, Cer... |
OMIM:258860 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Thin upper lip vermilion, Frontal bossing, Anteverted nares, Wide nasal bridge, Brachycephaly, Fe... |
OMIM:616728 |
Wolman Disease |
|
Nausea and vomiting, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea, Hepatic f... |
ORPHA:75233 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Choanal atresia, Micrognathia, Joint stiffness, Fibrous syngna... |
ORPHA:1300 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Poor suck, Nasal congestion, Stridor, Par... |
ORPHA:141083 |
Pediatric Systemic Lupus Erythematosus |
|
Abdominal pain, Abdominal distention, Diarrhea, Dyspnea, Oral ulcer, Vomiting, Pleural effusion |
ORPHA:93552 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Frontal bossing, Anteverted nares, Micrognathia, Microcephaly, Cleft lip, Patent ductus arteriosu... |
OMIM:619343 |
Waardenburg Syndrome, Type 1 |
|
Mandibular prognathia, Spina bifida, Underdeveloped nasal alae, Congenital sensorineural hearing ... |
OMIM:193500 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Apnea, Micrognathia, Prominent nose, Deep philtrum, Brach... |
OMIM:619503 |
Roberts-Sc Phocomelia Syndrome |
|
Craniosynostosis, Cleft upper lip, Micrognathia, Microcephaly, Patent ductus arteriosus, Underdev... |
OMIM:268300 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Feeding difficulties in infancy, Death in infancy, Respiratory failure, Depressed nasal bridge |
OMIM:614862 |
Fryns Syndrome |
|
Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Micr... |
ORPHA:2059 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Mucopolysaccharidosis, Type Vii |
|
Hydrocephalus, Recurrent upper respiratory tract infections, Gingival overgrowth, Macroglossia, W... |
OMIM:253220 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Short stature, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increa... |
OMIM:166220 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Joint laxity, Wide nose, Arachnodactyly, Prominent nasal bridge, Convex nasal ridge, Prominent no... |
OMIM:601552 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Respiratory failure, Thin corpus callosum, Nocturnal hypoventilation |
OMIM:620326 |
Schimke Immunoosseous Dysplasia |
|
Depressed nasal bridge, Dyspnea, Bulbous nose, Wide nasal bridge, Protuberant abdomen, Microdonti... |
OMIM:242900 |
Mercury Poisoning |
|
Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Abnormal cerebral white matter ... |
ORPHA:330021 |
Stt3B-Cdg |
|
Respiratory distress, Microcephaly, Optic atrophy, Feeding difficulties |
ORPHA:370924 |
Joubert Syndrome 1 |
|
Central apnea, Optic disc pallor, Anteverted nares, Episodic tachypnea, Protruding tongue, Postax... |
OMIM:213300 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Proximal muscle weakness in upper limbs, Respiratory fail... |
OMIM:613954 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Chronic gastritis, Thin upper lip vermilion, Micrognathia, Carious teeth, ... |
OMIM:150230 |
Vexas Syndrome |
|
Nasal chondritis, Chondritis of pinna |
OMIM:301054 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Microcephaly, Corpus callosum atrophy, Cerebral atrophy, High palate, Pulmo... |
OMIM:619272 |
Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Cleft soft palate, Accessory oral frenulum, Supernumerary tooth... |
ORPHA:2919 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Microcephaly, Anosmia, Short nose, Short nasal septum |
OMIM:302950 |
Laurence-Moon Syndrome |
|
Brachycephaly |
ORPHA:2377 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia |
ORPHA:240085 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Death in infancy, Abdominal distention, Dysplastic corpus callosum, Secondary microcephaly, Death... |
OMIM:619423 |
Dural Sinus Malformation |
|
Myelopathy, Chemosis, Proptosis, Hydrocephalus |
ORPHA:97339 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Abnormality of neuronal migration, Gray m... |
ORPHA:101030 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Wide cranial sutures, Short stature, Limited elbow movement, Delayed closure o... |
OMIM:614008 |
Short Stature, Brussels Type |
|
Microretrognathia, Short stature, Delayed epiphyseal ossification, Growth delay, Narrow chest, Ca... |
ORPHA:2867 |
Amyotrophic Lateral Sclerosis |
|
Nausea and vomiting, Dyspnea, Xerostomia, Abnormal respiratory system physiology, Respiratory fai... |
ORPHA:803 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Scoliosis, Spina bifida oc... |
ORPHA:64754 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress |
ORPHA:91130 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Diarrhea, Chronic pulmonary obstruction, Pneumothorax, B... |
ORPHA:411703 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thin bony cortex, Short stature, Anteverted nares, Optic neuropathy, Incre... |
OMIM:619727 |
Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Syndactyly, Short stature, Patent ductus arteriosus, Thin vermilion border, Hi... |
OMIM:619869 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Depressed nasal bridge, Underdeveloped nasal alae, Long nose, Sensorineural hearing impairment, S... |
ORPHA:457351 |
Loeys-Dietz Syndrome 2 |
|
Micrognathia, Pectus carinatum, Abnormal sternum morphology, Bifid uvula, Joint laxity, Syndactyl... |
OMIM:610168 |
Occipital Horn Syndrome |
|
Persistent open anterior fontanelle, Pectus carinatum, Narrow chest, Broad ribs, Joint laxity, Pe... |
OMIM:304150 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Proptosis |
OMIM:274300 |
Spastic Paraplegia 23, Autosomal Recessive |
|
Scapular winging, Retrognathia, Scoliosis, Micrognathia |
OMIM:270750 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Lathosterolosis |
|
Bilobate gallbladder, Micrognathia, High palate, Conductive hearing impairment, Thick upper lip v... |
OMIM:607330 |
Ovarian Fibroma |
|
Abdominal distention, Odontogenic keratocysts of the jaw, Pleural effusion, Abdominal pain |
ORPHA:314473 |
Familial Infantile Myoclonic Epilepsy |
|
Blepharospasm, Proptosis |
ORPHA:352582 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Limb joint contracture, Cryptorchidism, Patent ductus arteriosus, Respiratory failure, Intrauteri... |
OMIM:620327 |
Hermansky-Pudlak Syndrome 10 |
|
Apnea, Retrognathia, Low-set ears, Macrotia, Smooth philtrum |
OMIM:617050 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition... |
OMIM:216300 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,... |
OMIM:610682 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Epistaxis, Carious teeth, Diarrhea, Oral ulcer, Gingivitis, Enterocolitis, Ulcerative colitis, In... |
ORPHA:79259 |
Tibial Muscular Dystrophy |
|
Respiratory failure |
ORPHA:609 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Proptosis, Shallow orbits |
OMIM:620029 |
Moebius Syndrome |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Facial palsy, Micrognathia, Feeding difficult... |
ORPHA:570 |
Renal Hypodysplasia/Aplasia 1 |
|
Retrognathia, Talipes equinovarus, Low-set ears |
OMIM:191830 |
Cornelia De Lange Syndrome |
|
Micrognathia, Feeding difficulties in infancy, Brachycephaly, Downturned corners of mouth, Widely... |
ORPHA:199 |
Esophageal Atresia |
|
Respiratory distress, Barrett esophagus, Intestinal malrotation, Choanal atresia, Feeding difficu... |
ORPHA:1199 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Depressed nasal bridge, Accessory oral frenulum, Hamartoma of tongue, Short neck, Aplastic clavic... |
OMIM:616546 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Kyphoscoliosis, Bilateral cryptorchidism, Bulbous nose, Macrotia, Hip dislocation, Wide nasal bri... |
OMIM:617403 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... |
OMIM:603194 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Dysphagia |
ORPHA:240103 |
Isotretinoin-Like Syndrome |
|
Anteverted nares, Micrognathia, Microcephaly, Patent ductus arteriosus, Hydrocephalus, Cleft pala... |
ORPHA:2306 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Patent ductus arteriosus... |
ORPHA:1972 |
Classic Multiminicore Myopathy |
|
Mandibular prognathia, Microretrognathia, Multiple joint contractures, Short stature, Spinal rigi... |
ORPHA:324604 |
Pontocerebellar Hypoplasia, Type 10 |
|
Highly arched eyebrow, Synophrys, Proptosis, Long eyelashes, Long palpebral fissure |
OMIM:615803 |
Coffin-Siris Syndrome 11 |
|
Frontal bossing, Prominent metopic ridge, Depressed nasal bridge, Cleft soft palate, Uplifted ear... |
OMIM:618779 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Abnormality of the dentition, Feeding difficulties in infancy, Trism... |
ORPHA:3206 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Respiratory failure, Death in childhood |
OMIM:619334 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Abdominal pain, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pu... |
ORPHA:563 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal basal ganglia MRI signal intensity, Feeding difficulties in infancy, Stridor, Respirator... |
ORPHA:444013 |
Hyperostosis Cranialis Interna |
|
Proptosis |
OMIM:144755 |
Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... |
ORPHA:79126 |
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Microretrognathia, Joint dislocation, Joint laxity, Short stature, Prominent nose, Bulbous nose, ... |
OMIM:606220 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Growth delay, Respira... |
ORPHA:3240 |
Marfan Syndrome |
|
Dental crowding, Genu recurvatum, Micrognathia, Equinus calcaneus, Flexion contracture, Increased... |
OMIM:154700 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Proptosis, Downslanted palpebral fissures, Hypertelorism |
OMIM:222448 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy |
ORPHA:103910 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Frontal bossing, Dental crowding, Partial agenesis of the corpus callosum, Optic nerve dysplasia,... |
OMIM:617296 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Intestinal malrotation, Microcephaly, Gastrointestinal dysmotility, Thick corpus callosum, Brachy... |
OMIM:617798 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Cleft palate, Micrognathia |
OMIM:243440 |
Microphthalmia, Isolated 8 |
|
Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia |
OMIM:615113 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... |
ORPHA:264675 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Respiratory insuffici... |
ORPHA:79276 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Aqueduc... |
OMIM:306955 |
Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Hypoventilation, Spontaneous pneumothorax, Micrognathia, Recurrent p... |
ORPHA:731 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Poor appetite, Diarrhea, Tachypnea, Hypoxemia, Respiratory failure, Vomiting, Pleural effusion, N... |
ORPHA:542323 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Thyroid dysgenesis, Neonatal respiratory distress, Hypoparathyroidism, Shor... |
ORPHA:209905 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal distention, V... |
OMIM:613070 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Cleft soft palate, Short stature, Micrognathia, Short neck, Cryptorchidism, Pat... |
ORPHA:2282 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Multifocal hyperintensity of cerebral white matter on MRI, Respiratory distress, Respiratory fail... |
ORPHA:308552 |
Necrotizing Enterocolitis |
|
Apnea, Abdominal distention, Diarrhea, Bloody diarrhea, Vomiting |
ORPHA:391673 |
Vater/Vacterl Association |
|
Syndactyly, Occipital encephalocele, Abnormal nasopharynx morphology, Choanal atresia, Spina bifi... |
OMIM:192350 |
Machado-Joseph Disease |
|
Proptosis, Ptosis |
OMIM:109150 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Optic disc pallor, Death in infancy, Apnea, Optic neuropathy, Microcephaly, Feeding difficulties ... |
OMIM:252010 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Hydrocephalus, Meningocele, Anencephaly, Postaxial hand ... |
OMIM:611134 |
Cinca Syndrome |
|
Proptosis |
OMIM:607115 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Nausea and vomiting, Optic atrophy, Respiratory distress |
ORPHA:289916 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Feeding difficulties |
OMIM:616733 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain |
ORPHA:168829 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Upslanted palpebral fissure, Umbilical hernia, Proptosis |
OMIM:619234 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Vomiting |
OMIM:237310 |
Donohue Syndrome |
|
Wide mouth, Abdominal distention, Thick lower lip vermilion, Gingival overgrowth |
OMIM:246200 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Gastroesophageal reflux, Cough, Pulmonary ar... |
ORPHA:2414 |
Limb Body Wall Complex |
|
Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the hand, Spina bifida occulta,... |
ORPHA:2369 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Tracheoesophageal fistula, Dysphagia, Upper airway obstruction, St... |
ORPHA:142 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptib... |
OMIM:166200 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... |
OMIM:277320 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Accessory oral frenulum, Hamartoma of tongue, Microcephaly, Periventricular he... |
ORPHA:434179 |
Idiopathic Neonatal Atrial Flutter |
|
Feeding difficulties in infancy, Tachypnea, Respiratory distress |
ORPHA:45452 |
Hydrolethalus Syndrome 1 |
|
Micrognathia, Severe hydrocephalus, Midline defect of the nose, Low-set ears, Broad neck, Median ... |
OMIM:236680 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short stature, Lateral clavicle hook, Early ossification of capital femor... |
OMIM:208500 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Supernum... |
OMIM:617088 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Microcephaly, Hypoplasia of the pons, Abnormality of the dentition, Respiratory failure, Cerebell... |
ORPHA:88618 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Respiratory failure, Hypopla... |
OMIM:616538 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Broad ribs, Broad metacarpals, Depressed nasal bridge, Hyperlordosis, Tapered finger, Cleft lip, ... |
OMIM:301066 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Optic atrophy, Cerebral cortical atrophy, Microcephaly |
ORPHA:254913 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Shallow orbits |
OMIM:612394 |
Menkes Disease |
|
Death in childhood, Brachycephaly, Microcephaly |
OMIM:309400 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Reduced vital capacity, Achilles tendon contracture, Respiratory failure, Shoul... |
OMIM:603689 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Chronic otitis media, Sensorineural hearing impairment, Vertigo, Respiratory failure |
ORPHA:3226 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Supernumerary ni... |
ORPHA:1071 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Craniosynostosis, Microcephaly, Brachycephaly, Plagiocephaly, Holoprosencephaly |
ORPHA:2163 |
Developmental And Epileptic Encephalopathy 80 |
|
Upslanted palpebral fissure, Proptosis, Hypertelorism |
OMIM:618580 |
Native American Myopathy |
|
Micrognathia, Cleft palate, Feeding difficulties, Downturned corners of mouth, Respiratory insuff... |
ORPHA:168572 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Abdominal distention, Diarrhea, Dyspnea, Episodic abdominal pain, Bronchospasm, Nausea |
ORPHA:100085 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly |
ORPHA:588 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Sudden episodic apnea, Kyphoscoliosis, Bilateral cryptorchidism, Hip dysplasia, Macrodontia of pe... |
ORPHA:466722 |
Oligomeganephronia |
|
Branchial cyst, Optic disc coloboma, Hearing impairment, Micrognathia |
ORPHA:2260 |
Webb-Dattani Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:615926 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Cerebral calcification, Patent ductus arteriosus, Hydrocephalus, Optic atro... |
ORPHA:505248 |
Niemann-Pick Disease, Type A |
|
Feeding difficulties in infancy, Constipation, Vomiting, Protuberant abdomen, Macrocephaly |
OMIM:257200 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Thin upper lip vermilion, Facial palsy, Brachycephaly,... |
ORPHA:456312 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Intestinal malrotation, Missing ribs, Meningocele, Respiratory insuffici... |
ORPHA:1759 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Truncal titubation, Kyphosis, Axonal degeneration, Abnormal sensory nerve conducti... |
ORPHA:88628 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, Short metatarsal, Tibial bowing, Tarsometatarsal synostosis, Short phal... |
OMIM:600383 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough |
ORPHA:99931 |
Gracile Bone Dysplasia |
|
Short stature, Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull os... |
OMIM:602361 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Interstitial pneumonitis, Restrictive ventilatory defect, Respiratory failure, Recurrent upper re... |
OMIM:620296 |
C Syndrome |
|
Death in infancy, Anteverted nares, Depressed nasal bridge, Accessory oral frenulum, Micrognathia... |
ORPHA:1308 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Abnormal posturing, Recurrent upper respiratory tract infections, Titubation |
ORPHA:225147 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Patent ductus arteriosus, Cerebral atrophy, Feeding difficulties, Hypopn... |
OMIM:617248 |
3-Methylglutaconic Aciduria Type 7 |
|
Pneumothorax, Abnormal basal ganglia morphology, Cerebral atrophy, Feeding difficulties, Respirat... |
ORPHA:445038 |
Curry-Jones Syndrome |
|
Bicoronal synostosis, Anal stenosis, Wormian bones, Intestinal pseudo-obstruction, Intestinal mal... |
OMIM:601707 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Sinusitis, Choanal atresia, Malar prominence, Cleft upper lip, Micrognathia, Deep ... |
OMIM:251260 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis... |
ORPHA:95430 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain |
ORPHA:83469 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... |
OMIM:265120 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius,... |
ORPHA:2476 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Mandibular prognathia, Single transverse palmar crease, Anteverted ears, Protruding ear, Clinodac... |
ORPHA:459070 |
Atelosteogenesis Type I |
|
Telecanthus, Proptosis, Hypertelorism |
ORPHA:1190 |
Oculogastrointestinal Muscular Dystrophy |
|
Spontaneous esophageal perforation, Gastroparesis, Intestinal pseudo-obstruction, Malabsorption, ... |
ORPHA:1876 |
Loeys-Dietz Syndrome 1 |
|
Joint laxity, Arachnodactyly, Eosinophilic infiltration of the esophagus, Micrognathia, Craniosyn... |
OMIM:609192 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Ankyloglossia |
OMIM:618021 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hypertelorism, Proptosis, Ptosis |
OMIM:613385 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Optic atrophy, Respiratory insufficiency, Feeding difficulties, Respiratory failure, Secondary mi... |
OMIM:618329 |
Mucolipidosis Type Ii |
|
Respiratory failure requiring assisted ventilation, Depressed nasal bridge, Craniosynostosis, Gin... |
ORPHA:576 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Anteverted nares, Microcephaly, Oral-pharyngeal dysphagia, Brachycephaly, I... |
OMIM:615273 |
Lissencephaly Due To Tuba1A Mutation |
|
Microretrognathia, Agyria, Aganglionic megacolon, Optic nerve hypoplasia, Perisylvian polymicrogy... |
ORPHA:171680 |
Holoprosencephaly 14 |
|
Frontal bossing, Median cleft lip, Anteverted nares, Absent septum pellucidum, Proboscis, Microce... |
OMIM:619895 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Bifid uvula, Joint laxity, Ar... |
ORPHA:284984 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Intestinal edema, Abdominal pain, Abnormal soft palate morpho... |
ORPHA:100050 |
Aica-Ribosiduria |
|
Wide mouth, Thin upper lip vermilion, Brachycephaly |
ORPHA:250977 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
Aspartylglucosaminuria |
|
Anteverted nares, Depressed nasal bridge, Microcephaly, Diarrhea, Thick lower lip vermilion, Hypo... |
OMIM:208400 |
Restrictive Dermopathy |
|
Osteopenia, Multiple joint contractures, Micrognathia, Decreased skull ossification, Aplasia/Hypo... |
ORPHA:1662 |
Schisis Association |
|
Encephalocele, Spina bifida, Micromelia, Anencephaly, Tracheoesophageal fistula, Cleft palate, Un... |
ORPHA:63862 |
Bardet-Biedl Syndrome 8 |
|
Brachycephaly |
OMIM:615985 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Short lingual frenulum, Bulbous nose, Brachycephaly, Anteriorly placed anus, Widely-spaced maxill... |
OMIM:608980 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Short stature, Postaxial hand polydactyly, Long philtrum, Short nose, Abnormal... |
ORPHA:1389 |
Boutonneuse Fever |
|
Diarrhea, Nausea, Respiratory failure, Abdominal pain |
ORPHA:83313 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Optic neuropathy, Feeding difficulties in infancy, Dyspnea, Patent ductus arter... |
OMIM:610505 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level |
ORPHA:70578 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Flexion contracture,... |
ORPHA:2152 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, Precocious puberty, 2-3 toe syndactyly, Coloboma, Long philtrum, Recurr... |
OMIM:615877 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Abdominal pain, Feeding difficulties in infancy, Malabsorption, Abdominal d... |
ORPHA:3260 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Cleft soft palate, Uplifted earlobe, Increased nuchal translucency, Pie... |
OMIM:620183 |
Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Proptosis |
ORPHA:1860 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Feeding difficulties in infancy, Cerebral atrophy, Facial diplegia, Dysphagia |
OMIM:160900 |
Ovarian Fibrothecoma |
|
Abdominal distention, Pleural effusion, Abdominal pain |
ORPHA:314478 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Confluent hyperintensity of cerebral white matter on MRI, Macrogyria, Respiratory failure, Cerebe... |
ORPHA:280210 |
2Q31.1 Microdeletion Syndrome |
|
Epicanthus, Hypertelorism, Synophrys, Proptosis, Downslanted palpebral fissures, Short palpebral ... |
ORPHA:251014 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Central apnea, Thin upper lip vermilion, Feeding difficulties, Vomiting, Gastroesophageal reflux,... |
ORPHA:522077 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Optic disc pallor, Death in infancy, Respiratory insufficiency due to muscl... |
OMIM:615512 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Hypertelorism, Sparse eyebrow, Upslanted palpebral fissure, Proptosi... |
OMIM:617011 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Respiratory distress, Reye syndrome-like episodes, Abdominal distention, D... |
OMIM:256810 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease... |
OMIM:269150 |
Pediatric-Onset Graves Disease |
|
Proptosis, Abnormal eyelid morphology |
ORPHA:525731 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Proptosis |
OMIM:615381 |
Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal thorax morphology, ... |
ORPHA:1318 |
Short Stature With Microcephaly And Distinctive Facies |
|
Sparse eyebrow, Telecanthus, Proptosis |
OMIM:615789 |
Peritoneal Cystic Mesothelioma |
|
Abdominal distention, Constipation, Abdominal pain |
ORPHA:168816 |
Tolchin-Le Caignec Syndrome |
|
Abnormal vestibular function, Arachnodactyly, Prominent nose, Micrognathia, Precocious puberty, S... |
OMIM:618971 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Diarrhea, Vomiting |
OMIM:212140 |
Letterer-Siwe Disease |
|
Stomatitis, Abdominal distention, Dyspnea |
OMIM:246400 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Anorexia, Abnormal motor nerve conduction vel... |
ORPHA:2912 |
Cherubism |
|
Lower eyelid retraction, Proptosis |
OMIM:118400 |
Caudal Duplication |
|
Spina bifida, Cryptorchidism, Myelomeningocele, Abnormal sacrum morphology, Bifid sacrum, Vertebr... |
ORPHA:1756 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Wide mouth, Brachycephaly |
OMIM:616083 |
Aspergillosis |
|
Chronic lung disease, Sinusitis, Osteomyelitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obs... |
ORPHA:1163 |
Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Achilles tendon... |
OMIM:310200 |
Juvenile Xanthogranuloma |
|
Proptosis, Blepharitis |
ORPHA:158000 |
Menke-Hennekam Syndrome 1 |
|
Micrognathia, Deep philtrum, Depressed nasal ridge, High palate, Short philtrum, Gastroesophageal... |
OMIM:618332 |
Waardenburg Syndrome |
|
Intestinal obstruction, Aplasia/Hypoplasia of the colon, Aganglionic megacolon, Prominent nasal b... |
ORPHA:3440 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Flexion contracture,... |
ORPHA:261537 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Wide nose, Depressed nasal bridge, Reduced cerebral white matter volume, Microcephaly, Bulbous no... |
OMIM:610442 |
Sandifer Syndrome |
|
Abnormal posturing |
ORPHA:71272 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Choanal atresia, Cleft lip, Dental malocclusion, Anosmia, Cleft palat... |
OMIM:603457 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Upper airway obstruction, Swollen lip |
ORPHA:100057 |
Wyburn-Mason Syndrome |
|
Proptosis |
ORPHA:53719 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Optic atrophy, Brachycephaly |
ORPHA:1173 |
Malignant Atrophic Papulosis |
|
Nausea and vomiting, Intestinal fistula, Gastrointestinal hemorrhage, Abdominal pain, Intestinal ... |
ORPHA:679 |
Acquired Methemoglobinemia |
|
Respiratory distress, Abdominal pain, Dyspnea, Hypoxemia, Vomiting |
ORPHA:464453 |
Hereditary Acrokeratotic Poikiloderma |
|
Xerostomia, Gingivitis, Palmoplantar hyperkeratosis, Finger syndactyly, Short stature, Open bite,... |
ORPHA:2907 |
Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption |
ORPHA:71 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Abnormal peripheral myelination, Increa... |
ORPHA:168563 |
Gonadoblastoma |
|
Abdominal distention, Abdominal pain |
ORPHA:206484 |
Keppen-Lubinsky Syndrome |
|
Proptosis, Shallow orbits |
OMIM:614098 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Flexion contracture,... |
ORPHA:261552 |
Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
Hunter-Macdonald Syndrome |
|
Thin upper lip vermilion, Patent ductus arteriosus, Brachycephaly, Umbilical hernia, Short philtr... |
OMIM:611962 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infan... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infan... |
ORPHA:353277 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Death in infancy, Diarrhea, Esophageal varix, Vomiting, Protuberant abdome... |
OMIM:278000 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis, Overlapping toe, Tarsal synostosis, Brachydactyly |
OMIM:617898 |
Inflammatory Pseudotumor Of The Liver |
|
Abdominal distention, Vomiting, Nausea, Abdominal pain |
ORPHA:90003 |
Congenital Myopathy 17 |
|
Telecanthus, Proptosis, Downslanted palpebral fissures, Ptosis |
OMIM:618975 |
Humeroradial Synostosis |
|
Brachycephaly, Wide nasal bridge |
OMIM:236400 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Pneumonia, Abdominal pain, Diarrhea, Tachypnea, Vomiting, Nausea |
ORPHA:36234 |
Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Diarrh... |
ORPHA:275761 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Intestinal polyposis, Frontal bossing, Microretrognathia, Curved middle phalanx of the 4th toe, D... |
ORPHA:276413 |
Castleman Disease |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abdominal distention, Dyspnea, Cough |
ORPHA:160 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency, Feeding difficul... |
OMIM:613845 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... |
OMIM:263520 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Cerebral calcification, Intestinal malrotation, Microcephaly, Cough, Tachypnea, Esophageal varix,... |
OMIM:613658 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P... |
ORPHA:95455 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Microcephaly, Pulmonary embolism, Hydrocephalus, Optic atrophy, Cerebral at... |
ORPHA:79282 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Accelerated skeletal maturation, Posterior helix pit, Hypothyroidism, Prom... |
ORPHA:116 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Nonproductive cough, Fulminant hepatitis, Odynophagia, Diarrhea, ... |
ORPHA:319213 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Feeding difficulties in infancy, Abdominal distention, Decreased nerve conduction velocity, Optic... |
ORPHA:309256 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Proptosis, Hypertelorism |
OMIM:602482 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Reye syndrome-like episo... |
ORPHA:348 |
Wilson Disease |
|
Acute hepatic failure, Decreased nerve conduction velocity, Abdominal distention, Esophageal vari... |
OMIM:277900 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... |
ORPHA:2970 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Respiratory distress, Abnormal substantia nigra morpho... |
ORPHA:79139 |
Cinca Syndrome |
|
Proptosis |
ORPHA:1451 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Microcephaly, Cereb... |
OMIM:618426 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Abdominal distention, Cerebral white matter atrophy, Hypoperistalsis |
OMIM:619365 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Pneumonia, Tachypnea, Feeding difficulties, Anteriorly ... |
ORPHA:26793 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular ... |
ORPHA:51608 |
Thyroid Hypoplasia |
|
Macroglossia, Constipation, Abdominal distention |
ORPHA:95720 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Neurofibrillary tangles, Dysphagia, Respiratory ... |
OMIM:607625 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Gastrointestinal dysmotility, ... |
ORPHA:466943 |
Diamond-Blackfan Anemia |
|
Depressed nasal bridge, Cleft soft palate, Short stature, Micrognathia, Short neck, Cleft lip, Sh... |
ORPHA:124 |
Loeys-Dietz Syndrome 3 |
|
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal sternum morphology, High palate, ... |
OMIM:613795 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Arachnodactyly, High, narrow palate, Patent ductus arteriosus, Pneumothorax, Abnormal sternum mor... |
ORPHA:91387 |
Rodrigues Blindness |
|
Narrow nasal bridge, Tooth malposition, Nasal flaring |
OMIM:268320 |
Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis, Esophageal varix, Pulmonary arterial hypertension |
OMIM:215600 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... |
OMIM:155310 |
Otospondylomegaepiphyseal Dysplasia |
|
Proptosis |
ORPHA:1427 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Death in infancy, Intestinal malrotation, Hypoperistalsis, Abdominal distent... |
ORPHA:2241 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting |
ORPHA:35710 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Esophageal varix, Respiratory insufficiency, Decreased liver function, Hepa... |
ORPHA:367 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Absent eyelashes, Abnormal eyebrow morphology, Proptosis |
ORPHA:90153 |
H Syndrome |
|
Abnormal eyebrow morphology, Hydrocephalus, Proptosis, Upper eyelid edema |
ORPHA:168569 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia |
ORPHA:97285 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy, Insp... |
OMIM:207950 |
Holocarboxylase Synthetase Deficiency |
|
Nausea and vomiting, Tachypnea, Respiratory distress, Anorexia |
ORPHA:79242 |
Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Abnormal trabecular bone morphology, Femur fracture, Hydrocephalus, Optic... |
OMIM:612301 |
Branchiootic Syndrome 3 |
|
Branchial cyst, Commissural lip pit, Sensorineural hearing impairment |
OMIM:608389 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Bowel incontinence, Feeding difficulties in infancy, Respiratory... |
ORPHA:365 |
Mitochondrial Trifunctional Protein Deficiency |
|
Feeding difficulties in infancy, Respiratory insufficiency, Respiratory failure, Poor suck, Chron... |
ORPHA:746 |
Farber Disease |
|
Respiratory distress, Chronic diarrhea, Recurrent upper respiratory tract infections, Respiratory... |
ORPHA:333 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Microretrognathia, Peripheral axonal neuropathy, Neonatal respiratory distress, Multiple prenatal... |
OMIM:616866 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Optic disc pallor, Joint laxity, Hypoventilation, Short stature, Apnea, Breathing dys... |
ORPHA:438213 |
Nephronophthisis 2 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
Metachromatic Leukodystrophy, Adult Form |
|
Bowel incontinence, Decreased nerve conduction velocity, Abdominal distention, Optic atrophy, Ort... |
ORPHA:309271 |
Whipple Disease |
|
Hydrocephalus, Proptosis |
ORPHA:3452 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Epistaxis, Pneumonia, Abdominal pain, Hematemesis, Dyspnea, Diarrhea, Melen... |
ORPHA:340 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention, Upper airway obstruction |
ORPHA:93352 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Abdominal distention, Optic atrophy, Punctate periventricula... |
ORPHA:309263 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Nausea |
ORPHA:37612 |
Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Abdominal distention, Anorexia, Episodic abdominal pain |
ORPHA:370348 |
Lymphatic Malformation 7 |
|
Respiratory distress, Abdominal distention, Pleural effusion, Chylothorax |
OMIM:617300 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Intestinal malrotation, Hypoxemia |
ORPHA:2140 |
Machado-Joseph Disease Type 1 |
|
Proptosis |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Proptosis |
ORPHA:276241 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Feeding difficulties, Stridor, Gastroesophageal reflux, Poor suck |
OMIM:615595 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory failure, Respiratory insufficiency, Feeding difficulties |
OMIM:609015 |
Acrocardiofacial Syndrome |
|
Proptosis, Long eyelashes, Hypertelorism |
ORPHA:2008 |
Hennekam-Beemer Syndrome |
|
Upslanted palpebral fissure, Proptosis |
ORPHA:2135 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Prominent nose, Basal ganglia calcification, Thick lower lip vermilion, Recurrent upper respirato... |
OMIM:256040 |
Polyembryoma |
|
Abdominal distention, Abdominal pain |
ORPHA:180229 |
Mesomelic Dysplasia, Nievergelt Type |
|
Brachycephaly, Dolichocephaly |
ORPHA:2633 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastrointestinal tract... |
ORPHA:51890 |
Noonan Syndrome With Multiple Lentigines |
|
Brachycephaly, Spina bifida occulta, Wide nasal bridge |
ORPHA:500 |
Unilateral Polymicrogyria |
|
Apnea, Epistaxis, Perisylvian polymicrogyria, Infantile sensorineural hearing impairment, Abnorma... |
ORPHA:268943 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Cerebral cortical atrophy, Microcephaly |
OMIM:618201 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Plagiocephaly, Brachycephaly |
OMIM:619910 |
Cartilage-Hair Hypoplasia |
|
Anal stenosis, Aganglionic megacolon, Malabsorption, Esophageal atresia, Brachycephaly, Constipation |
OMIM:250250 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Ovarian Hyperstimulation Syndrome |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Pleural effusion, Nausea |
ORPHA:64739 |
Sacral Defect With Anterior Meningocele |
|
Back pain, Absence of the sacrum, Myeloschisis, Hemisacrum, Myelomeningocele, Hydrocephalus, Meni... |
OMIM:600145 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Diarrhea, Tachypnea, Respiratory insufficiency, Feeding difficulties, Hepatocellular necrosis, Re... |
OMIM:618278 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Fa... |
ORPHA:79138 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal basal ganglia MRI signal intensity, Respiratory distress, Apnea, Microcephaly, Patent du... |
ORPHA:17 |
Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Kyphosis, Patent ductus arteriosus, Respiratory insufficiency, Intrauterine gr... |
OMIM:619909 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Colonic Atresia |
|
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Proptosis, Ptosis |
ORPHA:228426 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention, Thin vermilion border |
OMIM:602557 |
Machado-Joseph Disease Type 3 |
|
Proptosis |
ORPHA:276244 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, High palate |
OMIM:271225 |
Microvillus Inclusion Disease |
|
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea |
ORPHA:2290 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Bilateral ptosis, Hydrocephalus, Upslanted palpebral fissure, Proptosis, Downslanted palpebral fi... |
ORPHA:163979 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Microphthalmia, Broad thumb, Smooth philtrum... |
OMIM:614526 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Feeding difficulties in infancy, Abdominal distention, Stridor, Macroglossia, Constipation, Umbil... |
OMIM:218700 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Facial palsy, Hypercapnia, Reduced forced vital capacity, Respiratory insuf... |
OMIM:164310 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Abnormal globus pallidus morphology, Vomiting |
OMIM:251000 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Epicanthus, Proptosis, Hypertelorism |
ORPHA:457395 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Aqueductal stenosis, Abdominal distent... |
OMIM:619534 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Patent ductus arteriosus, Brachycephaly, Duodenal steno... |
OMIM:190685 |
Fanconi-Bickel Syndrome |
|
Abdominal distention, Hepatic failure |
ORPHA:2088 |
Manitoba Oculotrichoanal Syndrome |
|
Anal stenosis, Anophthalmia, Broad nasal tip, Bifid nasal tip, Anteriorly placed anus, Microphtha... |
OMIM:248450 |
Steinert Myotonic Dystrophy |
|
Tented upper lip vermilion, Intestinal pseudo-obstruction, Decreased response to growth hormone s... |
ORPHA:273 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Movement abnormality of the tongue, Open mouth, Dysphagia |
ORPHA:98805 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Ileal atresia, Abdominal distention, Patent d... |
OMIM:619351 |
Neurocutaneous Melanocytosis |
|
Death in infancy, Meningocele, Abnormality of neuronal migration, Chorioretinal coloboma |
ORPHA:2481 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Microcephaly, Patent ductus arteriosus, Hypoplasia of the corpus callosum, ... |
ORPHA:2519 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Palpebral edema, Enlarged lacrimal glands, Abnormality of the orbital region, Abnormal lacrimal d... |
ORPHA:79078 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Vomiting, Cough, Pleural effusion, Cereb... |
ORPHA:1546 |
Leprechaunism |
|
Wide nose, Microcephaly, Abdominal distention, Rectal prolapse, Megarectum, Thick vermilion border |
ORPHA:508 |
Hereditary Fructose Intolerance |
|
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... |
ORPHA:469 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Celiac disease, Abdominal distention, Gastrointestinal inflammation, Hep... |
ORPHA:186 |
Fanconi-Bickel Syndrome |
|
Abdominal distention, Poor appetite, Malabsorption |
OMIM:227810 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Optic neuropathy, Myelopathy, Optic atrophy, Hyperventilation |
ORPHA:79241 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Proptosis |
OMIM:608612 |
Oculotrichoanal Syndrome |
|
Anal stenosis, Anophthalmia, Bifid nasal tip, Anteriorly placed anus, Microphthalmia |
ORPHA:2717 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Papilledema, Hydrocephalus, Esophageal varix, Brachycephaly, Fe... |
ORPHA:2072 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Periventricular heterotopia, Decreased nerve conduction velocity, Aspiratio... |
OMIM:618733 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia |
ORPHA:238459 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Frontal bossing, Wide nose, Cloverleaf skull, Depressed nasal bridge, Choanal atresia, Craniosyno... |
OMIM:201750 |
Hypoglossia-Hypodactylia |
|
Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia |
OMIM:103300 |
Trichohepatoenteric Syndrome 1 |
|
Large placenta, Proptosis, Downslanted palpebral fissures, Hypertelorism |
OMIM:222470 |
Oculoectodermal Syndrome |
|
Limbal dermoid, Epicanthus, Eyelid coloboma, Proptosis |
OMIM:600268 |
Cocaine Intoxication |
|
Respiratory distress, Abdominal pain, Intestinal perforation, Wheezing, Tachypnea, Pneumothorax, ... |
ORPHA:90068 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Abdominal distention, Hepatic failure, Death in infancy |
OMIM:617156 |
Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Spina bifida occulta, Bifid uvula |
OMIM:119500 |
Pseudoaminopterin Syndrome |
|
Epicanthus, Highly arched eyebrow, Hypertelorism, Hydrocephalus, Proptosis, Blepharophimosis |
ORPHA:221120 |
Campomelic Dysplasia |
|
Proptosis, Hypertelorism |
ORPHA:140 |
Pulmonary Alveolar Microlithiasis |
|
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... |
ORPHA:60025 |
Localized Scleroderma |
|
Deeply set eye, Proptosis |
ORPHA:90289 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Wide mouth, Aplasia/Hypoplasia of the middle ear, Microtia, Anotia, Conductive hearing impairment |
OMIM:251800 |
Pmm2-Cdg |
|
Mandibular prognathia, Osteopenia, Respiratory distress, Multiple joint contractures, Prominent n... |
ORPHA:79318 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Nasal septum perforation, Tachypnea |
OMIM:615934 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Thin upper lip vermilion, Brachycephaly, Secondary microcephaly, Steatorrhea, Midface retrusion, ... |
OMIM:616263 |
Thyroid Ectopia |
|
Macroglossia, Umbilical hernia, Constipation, Abdominal distention |
ORPHA:95712 |
Pagod Syndrome |
|
Encephalocele, Abnormal clavicle morphology, Short stature, Spina bifida, Meningocele, Optic atro... |
ORPHA:991 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Papilledema, Brachycephaly |
ORPHA:371428 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Gastritis, Pneumonia, Malabsorption, Ileus, Secretory diarrhea, Interstitia... |
ORPHA:37042 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Proptosis |
OMIM:615349 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Choanal atresia, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Cleft... |
OMIM:154500 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Abdominal distention, Abnormal tongue morphology, Diarrhea, Thick vermilio... |
ORPHA:653 |
Posterior Urethral Valve |
|
Abnormal nasal morphology, Postnatal growth retardation, Retrognathia |
ORPHA:93110 |
Listeriosis |
|
Back pain, Respiratory distress, Stiff neck, Miscarriage, Osteomyelitis, Pneumonia, Nuchal rigidi... |
ORPHA:533 |
Tetraamelia Syndrome 1 |
|
Choanal atresia, Cleft upper lip, Micrognathia, Hydrocephalus, Single naris, Cleft palate, Anal a... |
OMIM:273395 |
Sotos Syndrome |
|
Accelerated skeletal maturation, No permanent dentition, Flexion contracture, Conductive hearing ... |
ORPHA:821 |
Erdheim-Chester Disease |
|
Xanthelasma, Proptosis, Ptosis |
ORPHA:35687 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Decreased testicular size, Short stature, Intestinal malrotation, Cleft soft palate, Optic nerve ... |
OMIM:619321 |
Williams Syndrome |
|
Micrognathia, Rectal prolapse, Gastroesophageal reflux, Microdontia, Spina bifida occulta, Abnorm... |
ORPHA:904 |
Smith-Mccort Dysplasia 1 |
|
Hypoplastic facial bones, Dolichocephaly, Microcephaly |
OMIM:607326 |
Familial Gestational Hyperthyroidism |
|
Proptosis |
ORPHA:99819 |
Fucosidosis |
|
Brachycephaly, Abnormality of the dentition |
ORPHA:349 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Respiratory distress, Ab... |
ORPHA:537 |
Ablepharon-Macrostomia Syndrome |
|
Abnormal nasal morphology, Short upper lip, Anteriorly placed anus, Wide mouth, Hypoplasia of the... |
OMIM:200110 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Deeply set eye, Proptosis |
ORPHA:508533 |
Warburg-Cinotti Syndrome |
|
Dental crowding, Posteriorly rotated ears, Ankle flexion contracture, Underdeveloped nasal alae, ... |
OMIM:618175 |
Noonan Syndrome |
|
Hypertelorism, Proptosis, Downslanted palpebral fissures, Ptosis |
ORPHA:648 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death, Abdominal distention, Microcolon |
OMIM:619362 |
Mirizzi Syndrome |
|
Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Vomiting, Nausea |
ORPHA:521219 |
Meester-Loeys Syndrome |
|
Umbilical hernia, Proptosis, Downslanted palpebral fissures, Hypertelorism |
OMIM:300989 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida, Precocious puberty, Cryptorchidism, Coloboma, Pheochromocytoma, Scoliosis, Hemiatro... |
ORPHA:2874 |
Hyperthyroidism, Nonautoimmune |
|
Proptosis |
OMIM:609152 |
Common Variable Immunodeficiency |
|
Pneumonia, Gastrointestinal stroma tumor, Bronchiectasis, Brachycephaly, Restrictive ventilatory ... |
ORPHA:1572 |
Knobloch Syndrome 1 |
|
Occipital encephalocele, Optic disc pallor, Depressed nasal bridge, Pyloric stenosis, Bulbous nos... |
OMIM:267750 |
Townes-Brocks Syndrome |
|
Anteriorly placed anus, Chorioretinal coloboma, Triphalangeal thumb, Clinodactyly of the 5th fing... |
ORPHA:857 |
Hereditary Spherocytosis |
|
Abdominal distention, Abdominal pain |
ORPHA:822 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Proptosis |
ORPHA:424 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hypertelorism, Proptosis, Downslanted palpebral fissures, Ptosis |
ORPHA:536471 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Abdominal distention, Hypopnea, Abdominal pain |
ORPHA:2330 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo... |
ORPHA:31204 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Vomiting |
ORPHA:247257 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Patent ductus arteriosus, Tr... |
ORPHA:210122 |
Ethylene Glycol Poisoning |
|
Gastritis, Facial palsy, Abnormal pattern of respiration, Tachypnea, Episodic respiratory distres... |
ORPHA:31826 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion, Hepatic failure |
ORPHA:292 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Proptosis |
ORPHA:90154 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Cerebral atrophy, Respiratory failure, Vomiting, Patent urachus, Death in childhood |
OMIM:618252 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Abdominal distention, Vomiting, Congenital pyloric atresia, Oral mucosal blisters |
ORPHA:158684 |
Abetalipoproteinemia |
|
Chronic diarrhea, Respiratory failure, Vomiting, Steatorrhea, Fat malabsorption |
ORPHA:14 |
Waldenström Macroglobulinemia |
|
Proptosis |
ORPHA:33226 |
Arima Syndrome |
|
Dyspnea, Postaxial hand polydactyly, Tachypnea, Optic atrophy, Esophageal varix, Wide mouth, Grow... |
OMIM:243910 |
X-Linked Acrogigantism |
|
Diastema, Abdominal distention |
ORPHA:300373 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Secretory diarrhea |
OMIM:214700 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Cerebrotendinous Xanthomatosis |
|
Myelopathy, Proptosis, Abnormal eyelid morphology |
ORPHA:909 |
Non-Acquired Panhypopituitarism |
|
Osteopenia, Pituitary dwarfism, Ectopic posterior pituitary, Short stature, Decreased response to... |
ORPHA:90695 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Colitis, Steatorrhea |
ORPHA:309031 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Non... |
ORPHA:805 |
Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Absent nipple, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syn... |
ORPHA:69085 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Hydrocephalus, Feeding difficulties, Macroglossia, Pleural effusion |
OMIM:261740 |
Currarino Syndrome |
|
Anal stenosis, Perianal abscess, Gastrointestinal obstruction, Abdominal distention, Chronic cons... |
OMIM:176450 |
Meier-Gorlin Syndrome 7 |
|
Proptosis, Thin eyebrow |
OMIM:617063 |
Gallbladder Neuroendocrine Tumor |
|
Abdominal distention, Nausea, Anorexia, Episodic abdominal pain |
ORPHA:100086 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Neonatal respiratory distress, Respiratory distress, Steatorrhea |
OMIM:260400 |
Neurofibromatosis, Type I |
|
Short stature, Spina bifida, Aqueductal stenosis, Pectus excavatum, Hydrocephalus, Neurofibroma, ... |
OMIM:162200 |
Birk-Barel Syndrome |
|
Microretrognathia, Sacral dimple, Tented upper lip vermilion, Single transverse palmar crease, Hi... |
OMIM:612292 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Bloody diarrhea, Rectal abs... |
ORPHA:436252 |
Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea |
ORPHA:555874 |
Methylmalonic Aciduria, Cblb Type |
|
Feeding difficulties in infancy, Vomiting, Respiratory distress |
OMIM:251110 |
Coccidioidomycosis |
|
Respiratory distress, Pneumonia, Broad skull, Hydrocephalus, Pleural empyema, Cough, Exudative pl... |
ORPHA:228123 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax, Cerebral atrophy |
OMIM:620306 |
Eisenmenger Syndrome |
|
Respiratory distress, Increased pulmonary vascular resistance, Abdominal distention, Patent ductu... |
ORPHA:97214 |
Otosclerosis 1 |
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Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
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High-frequency sensorineural hearing impairment, Osteopenia, Mixed hearing impairment, Cleft soft... |
OMIM:614557 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Microretrognathia, Depressed nasal bridge, Wide nasal bridge, Growth delay, High palate, Bilatera... |
OMIM:619418 |
Dextrocardia |
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Congenital hip dislocation, Intestinal malrotation, Hydrocephalus, Abnormal rib morphology, Webbe... |
ORPHA:1666 |
Methylmalonic Aciduria, Cbla Type |
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Feeding difficulties in infancy, Vomiting, Respiratory distress |
OMIM:251100 |
Colchicine Poisoning |
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Respiratory distress, Diarrhea, Cardiorespiratory arrest, Vomiting, Nausea |
ORPHA:31824 |
Niemann-Pick Disease Type C |
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Cerebral atrophy, Feeding difficulties, Respiratory insufficiency, Respiratory failure, Hypoplasi... |
ORPHA:646 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Proptosis |
OMIM:248370 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Apnea, Dyspnea, Episodic respiratory distress, Optic atrophy, Dysphagia, Focal T2 hyperintense ba... |
ORPHA:255210 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Respiratory distress, Neonatal respiratory distress, Microcephaly, Prominent nose, Respiratory ac... |
OMIM:614748 |
Congenital Tracheal Stenosis |
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Respiratory distress, Abnormal stomach morphology, Neonatal asphyxia, Patent ductus arteriosus, D... |
ORPHA:141127 |
Thoracic Outlet Syndrome |
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Abnormal rib morphology |
ORPHA:97330 |
Split Cord Malformation |
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Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Cerv... |
ORPHA:573278 |
Complete Atrioventricular Septal Defect |
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Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Feeding difficulties... |
ORPHA:1329 |
Zygomycosis |
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Chemosis, Proptosis, Ptosis |
ORPHA:73263 |
Otosclerosis 4 |
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Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Q Fever |
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Respiratory distress, Pneumonia, Anorexia, Cough, Pleural effusion |
ORPHA:781 |
Yunis-Varon Syndrome |
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Sparse eyelashes, Hypertelorism, Sparse eyebrow, Hydrocephalus, Upslanted palpebral fissure, Prop... |
ORPHA:3472 |
Neurofibromatosis Type 1 |
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Lisch nodules, Hydrocephalus, Proptosis, Abnormal eyelid morphology |
ORPHA:636 |
Cloacal Exstrophy |
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Intestinal malrotation, Spina bifida, Myelomeningocele, Abnormal tibia morphology, Hemivertebrae,... |
ORPHA:93929 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Respiratory distress, Dyspnea |
OMIM:115197 |
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
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Brachycephaly |
ORPHA:2988 |
Alagille Syndrome 1 |
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Frontal bossing, Hypoplasia of the ulna, Depressed nasal bridge, Long nose, Bulbous nose, Abnorma... |
OMIM:118450 |
Kindler Epidermolysis Bullosa |
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Finger syndactyly, Turricephaly, Abnormal dental enamel morphology, Premature loss of primary tee... |
ORPHA:2908 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
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Proptosis, Hypertelorism |
OMIM:130070 |
Hardikar Syndrome |
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Decreased serum insulin-like growth factor 1, Short stature, Cleft soft palate, Intestinal malrot... |
OMIM:301068 |
Pancreatoblastoma |
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Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:677 |
Camurati-Engelmann Disease |
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Proptosis |
OMIM:131300 |
Glycogen Storage Disease Ib |
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Inflammation of the large intestine, Oral ulcer, Protuberant abdomen |
OMIM:232220 |
Melnick-Needles Syndrome |
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Proptosis, Hypertelorism |
OMIM:309350 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Okamoto Syndrome |
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Long palpebral fissure, Hypertelorism, Proptosis, Ptosis |
ORPHA:2729 |
Meningioma |
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Hydrocephalus, Proptosis |
ORPHA:2495 |
Sirenomelia |
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Absence of the sacrum, Spina bifida, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia o... |
ORPHA:3169 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Respiratory distress, Intestinal malrotation, Patent ductus arteriosus, Mild microcephaly, Feedin... |
ORPHA:2255 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
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Proptosis |
OMIM:210730 |
Isolated Posterior Meningocele |
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Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Limitation of neck moti... |
ORPHA:268810 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Sparse eyebrow, Hydrocephalus, Proptosis, Sparse eyelashes |
OMIM:210710 |
Aprosencephaly And Cerebellar Dysgenesis |
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Craniosynostosis, Micrognathia, Aprosencephaly, Talipes equinovarus, Bifid uvula |
OMIM:601374 |
Plague |
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Respiratory distress, Chapped lip, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Enterocolitis... |
ORPHA:707 |
Glycogen Storage Disease Ia |
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Intermittent diarrhea, Protuberant abdomen |
OMIM:232200 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
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Unilateral deafness, Flexion contracture of finger, Meningocele, Palmoplantar keratoderma |
ORPHA:1010 |
Proteus Syndrome |
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Hypertelorism, Retinal hamartoma, Sirenomelia, Proptosis, Downslanted palpebral fissures, Ptosis |
ORPHA:744 |
Scimitar Syndrome |
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Respiratory distress, Patent ductus arteriosus, Pneumothorax, Cough, Pulmonary arterial hypertension |
ORPHA:185 |
Gitelman Syndrome |
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Nausea and vomiting, Respiratory distress, Cerebral calcification, Abdominal pain, Diarrhea, Cons... |
ORPHA:358 |
Granulomatosis With Polyangiitis |
|
Proptosis |
ORPHA:900 |
Atresia Of Urethra |
|
Abdominal distention, Patent urachus |
ORPHA:105 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress |
OMIM:274150 |
17Q11 Microdeletion Syndrome |
|
Hypertelorism, Deeply set eye, Proptosis, Lisch nodules, Downslanted palpebral fissures |
ORPHA:97685 |
Vascular Ehlers-Danlos Syndrome |
|
Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Hypertelorism, Abnormal eyelash morphology, D... |
ORPHA:286 |
Alström Syndrome |
|
Respiratory distress, Optic disc pallor, Abnormality of dental color, Recurrent upper respiratory... |
ORPHA:64 |
Camurati-Engelmann Disease |
|
Proptosis |
ORPHA:1328 |
Aortic Arch Interruption |
|
Respiratory distress, Feeding difficulties in infancy, Patent ductus arteriosus, Tachypnea, Exert... |
ORPHA:2299 |
Leptospirosis |
|
Nausea and vomiting, Papilledema, Respiratory distress, Anorexia, Abdominal pain, Diarrhea, Cough... |
ORPHA:509 |
Lumbar Syndrome |
|
Spina bifida, Cryptorchidism, Myelomeningocele, Ectopic anus, Anal atresia |
ORPHA:83628 |
Retinoblastoma |
|
Proptosis |
ORPHA:790 |
Beckwith-Wiedemann Syndrome |
|
Proptosis |
OMIM:130650 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Pallister-Killian Syndrome |
|
Telecanthus, Epicanthus, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Upslanted palpebral fis... |
OMIM:601803 |
Tropical Endomyocardial Fibrosis |
|
Proptosis |
ORPHA:75565 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Patent ductus arteriosu... |
ORPHA:99125 |
Exstrophy-Epispadias Complex |
|
Anal stenosis, Spina bifida, Cryptorchidism, Hydrocephalus, Abnormal joint morphology, Anal atresia |
ORPHA:322 |