Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Short columella, Patchy distorti... |
OMIM:155050 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Underdeveloped nasal ala... |
OMIM:190351 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... |
ORPHA:1452 |
Hirschsprung Disease |
|
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Abdomin... |
ORPHA:388 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Pyle Disease |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Mandibular prognathia, Persistence of primary t... |
OMIM:265900 |
Aganglionosis, Total Intestinal |
|
Total intestinal aganglionosis |
OMIM:202550 |
Volvulus Of Midgut |
|
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... |
OMIM:193250 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Short neck, Micrognathia, Cleft palate, Short nose, A... |
ORPHA:2015 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis... |
OMIM:612350 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morpholo... |
OMIM:144750 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Micrognathia, Short neck, High, narrow palate, Supernumerary tooth, Bulbous no... |
ORPHA:1787 |
Anonychia-Microcephaly Syndrome |
|
Clinodactyly of the 5th finger, Microcephaly, Carious teeth, Abnormality of the dentition |
ORPHA:1094 |
Larsen-Like Syndrome |
|
Joint dislocation, Joint laxity, Kyphoscoliosis, Wide anterior fontanel, Dental malocclusion, Cle... |
OMIM:608545 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Depressed nasal bridg... |
ORPHA:61 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Kyphosis, Dental malocclusion... |
ORPHA:1858 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Abnormality of the dentition, Avascular necrosis of th... |
ORPHA:77258 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... |
ORPHA:2501 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Delayed eruption of primary te... |
OMIM:620099 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Mandibular prognathia, Relative macrocephaly, Anteverted nares, Tapered finger, Long fingers, Den... |
OMIM:618292 |
Hirschsprung Disease, Susceptibility To, 3 |
|
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon |
OMIM:613711 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hallux valgus, Kyphoscoliosis, Prominent nose, Microcephaly, Dental malocclusion |
OMIM:615541 |
Zimmermann-Laband Syndrome |
|
Hallux valgus, Wide nose, Micrognathia, Short neck, Supernumerary tooth, Bulbous nose, Gingival f... |
ORPHA:3473 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
Mcdonough Syndrome |
|
Mandibular prognathia, Micrognathia, Open bite, Kyphosis, Prominent nose, Underdeveloped nasal al... |
ORPHA:2471 |
Trichorhinophalangeal Syndrome Type 2 |
|
Joint dislocation, Thin upper lip vermilion, Abnormality of the dentition, Avascular necrosis of ... |
ORPHA:502 |
17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Anteverted nares, Abnormality of the dentition, Micrognathia, Microce... |
ORPHA:217340 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... |
OMIM:266600 |
Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Mandibular prognathia, Sacral dimple, Toe syndactyly, Anteverted nares, Camptodact... |
ORPHA:1327 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Intestinal malrotation, Convex nasal ridge, Micrognathia, Carious teeth... |
OMIM:613684 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Sandal gap, Abnormal finger flexion crease, Kyphosco... |
ORPHA:2980 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Osteopo... |
OMIM:156510 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Micrognathia, Short neck, Downturned corners of mouth, High palate, Thoracic kyphosis, Abnormal b... |
ORPHA:163649 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Metaphyseal widening, Dental malocclus... |
OMIM:608940 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Microcephaly, Prominent nose, Ky... |
OMIM:234250 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... |
OMIM:243180 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1248 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, High, ... |
OMIM:119600 |
Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Cleft soft palate, Accessory oral frenulum, Supernumerary tooth... |
ORPHA:2919 |
Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re... |
ORPHA:210110 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Short mandibular rami |
OMIM:141300 |
Craniosynostosis 3 |
|
Hallux valgus, Sagittal craniosynostosis, Dental malocclusion, Left unicoronal synostosis, Right ... |
OMIM:615314 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyl... |
OMIM:614669 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Prominent nasal bridge, Osteoporosis, Cone-shaped epiphysis, Platyspon... |
ORPHA:71267 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Lumbar hyperlordosis, Broad nasal tip, Achi... |
OMIM:619719 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Dental crowding, Wormian bones,... |
OMIM:269300 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Anteverted nares, Abnormal dental enamel morphology, Craniosyno... |
ORPHA:1515 |
Trichodentoosseous Syndrome |
|
Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth |
OMIM:190320 |
Orofaciodigital Syndrome Iii |
|
Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Bulbous nose, Tongue nodules, Postaxia... |
OMIM:258850 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Microcephaly, Open bite, Dental malocclusion, ... |
ORPHA:3079 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Tooth ankylosis, Pulp calcific... |
OMIM:166750 |
Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... |
ORPHA:763 |
Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Waardenburg-Shah Syndrome |
|
Intestinal obstruction, Aganglionic megacolon, Abdominal pain, Abnormal intestine morphology, Con... |
ORPHA:897 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Anteverted nares, Cleft sof... |
OMIM:616331 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Depressed nasal bridge, Micrognathia, Abnormality of the humerus, Preaxi... |
ORPHA:3098 |
Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Microcephaly, Micrognathia, Cryptorchidism, Joint hyperflexibility, Evert... |
ORPHA:1695 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Knee dislocation, Irregular vertebral endplates, High palate... |
OMIM:618363 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Relative macrocephaly, Prominent nasal tip, Lumbar hyperlordosis, Ante... |
OMIM:612921 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Short metacarpal, Prominent nasal bridge, Abnormality of the dentition, Pr... |
ORPHA:627 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Trismus, Joint stiffness, Vertebral wed... |
OMIM:616583 |
Odontochondrodysplasia 1 |
|
Genu recurvatum, Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Ost... |
OMIM:184260 |
Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Micrognathia, Short neck, Microcephaly, Depressed nasal ridge, Gingival fibroma... |
ORPHA:1832 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Cone-shaped epiphyses ... |
OMIM:190350 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Coxa valga, Cone-sha... |
ORPHA:166272 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the dentition, Supernumerary tooth, Oligodontia, Short 5th metacarpal, Brachydactyly |
ORPHA:1264 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Joint hypermobility, Diastema, Agenesis of molar, Supernumerary tooth, Kyphosis, Oste... |
OMIM:619718 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the... |
ORPHA:3145 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Depressed nasal bridge, Microcephaly, Supernumerary tooth, Submucous cleft hard palate, Thick low... |
OMIM:617412 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Depressed nasal bridge, Recur... |
OMIM:613849 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... |
ORPHA:26790 |
Hirschsprung Disease With Type D Brachydactyly |
|
Aganglionic megacolon |
OMIM:306980 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Epiphyseal dysplasia, Enlarged epiphyses, Anteverted nares, Depressed nasal bridge, Pierre-Robin ... |
OMIM:184840 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Joint laxity, High, narrow palate, Dental malocclusion, Brachydactyly |
OMIM:619692 |
Hirschsprung Disease, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:600155 |
Hirschsprung Disease, Susceptibility To, 5 |
|
Aganglionic megacolon |
OMIM:600156 |
Hirschsprung Disease, Susceptibility To, 4 |
|
Aganglionic megacolon |
OMIM:613712 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Persistence of primary teeth, Supernumerary tooth, Recurrent upper respiratory tract infections, ... |
OMIM:619752 |
Seckel Syndrome 1 |
|
Dental crowding, Abnormal finger flexion crease, Selective tooth agenesis, Micrognathia, Prominen... |
OMIM:210600 |
Otodental Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Agenesis of premo... |
ORPHA:2791 |
48,Xxyy Syndrome |
|
Delayed eruption of teeth, Broad jaw, Abnormal dental enamel morphology, Open bite, Carious teeth... |
ORPHA:10 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:601390 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Dental crowding, Convex nasal ridge, Micrognathia, Short neck, Generalized joint laxi... |
ORPHA:251028 |
Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Dental malocclusion, Cone-shaped epiphyses of the phalanges... |
OMIM:602849 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Micrognathia, Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Hitchhi... |
OMIM:614078 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Depressed nasal bridge, Broad na... |
OMIM:619736 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Micrognathia, Diastema, Short neck, Underdeveloped nasal alae, Dental malocclusion, Malar flatten... |
ORPHA:436245 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Dental crowding, Micrognathia, Microcephaly, Dental malocclusion, Wide mou... |
OMIM:610883 |
Harrod Syndrome |
|
Arachnodactyly, Microcephaly, Long nose, Kyphosis, Cryptorchidism, Dental malocclusion, Abnormal ... |
ORPHA:2115 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft... |
ORPHA:3104 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Downturned corners of mout... |
ORPHA:1507 |
Frank-Ter Haar Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Beaking of vertebral bodies, Genu recurvatum, C... |
ORPHA:137834 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Craniosynostosis, Microcephaly, Cleft palate, Convex nasal ridge |
OMIM:600252 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Depressed nasal b... |
ORPHA:2025 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, H... |
OMIM:234100 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Kyphosis, Wide mouth, Everted lower lip vermilio... |
ORPHA:2429 |
Craniosynostosis 2 |
|
Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Triphalangeal thu... |
OMIM:604757 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Anteverted nares, Prominent nasal bridge, Tapered fin... |
OMIM:618825 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Micrognathia, Ankylosis, Dental malocclusion, Cleft palate, Mandibular condyle h... |
OMIM:602483 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Schwartz-Jampel Syndrome |
|
Micrognathia, Short neck, Coxa vara, High palate, Wrist flexion contracture, Pursed lips, Increas... |
ORPHA:800 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micrognathia, Short neck, Increased intervertebral space, Lumbar hyperlordosis... |
OMIM:256050 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Hyperextensibility at elbow, Recurrent fract... |
OMIM:610967 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Thin upper lip vermilion, Sandal gap, Dental crowding, Anteverted nares, Short toe, P... |
OMIM:617877 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short middl... |
ORPHA:63442 |
Pycnodysostosis |
|
Persistent open anterior fontanelle, Increased bone mineral density, Aplastic clavicle, Persisten... |
OMIM:265800 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Autosomal Dominant Robinow Syndrome |
|
Micrognathia, Short neck, High, narrow palate, Abnormality of the gingiva, Hemivertebrae, Coxa va... |
ORPHA:3107 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:615546 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
X-Linked Complicated Corpus Callosum Dysgenesis |
|
Aganglionic megacolon |
ORPHA:1497 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate... |
OMIM:311895 |
Catifa Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Cleft lip, Cleft palate, Mild microcephaly, Increase... |
OMIM:618761 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Narrow mouth, Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvi... |
ORPHA:2370 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hyperflexibility, Platyspondyly, A... |
ORPHA:90653 |
Mulibrey Nanism |
|
Wide nose, Dental crowding, Depressed nasal bridge, Absent frontal sinuses, Enamel hypoplasia, Hy... |
OMIM:253250 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, High palate, Short palm, Shor... |
OMIM:249420 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Flexion contracture, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, Microdo... |
OMIM:619293 |
Arthrogryposis, Distal, Type 1C |
|
Short neck, Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly ... |
OMIM:619110 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... |
ORPHA:873 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Malar flattening, Dental malocclusion, Widely spaced teeth, Underdeveloped nasal alae |
OMIM:616108 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Mandibular prognathia, Arthrogryposis multiplex congenita, High palate, Dental malocclusion |
OMIM:608931 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, Microcephaly, Kyphosis, High palate, Scoliosis, Long philtrum, Short nose |
ORPHA:2598 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Aganglionic megacolon, Anal atresia |
OMIM:235760 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, Contractu... |
ORPHA:329178 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Microcephaly, Pro... |
ORPHA:2107 |
Acrodysostosis |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Depressed nasal ridge, Abnorm... |
ORPHA:950 |
Craniolenticulosutural Dysplasia |
|
Osteopenia, High palate, Bifid uvula, Long philtrum, Joint laxity, Anteverted nares, Wide anterio... |
OMIM:607812 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Catel-Manzke Syndrome |
|
Camptodactyly of finger, Metatarsus valgus, Micrognathia, Joint stiffness, Radial deviation of th... |
ORPHA:1388 |
Duplication Of The Pituitary Gland |
|
Thoracic scoliosis, Abnormal odontoid process morphology, Abnormality of joint mobility, Short ne... |
ORPHA:314621 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Short neck, Depressed nasal ridge, Clinodactyly of the 5th finger, Depress... |
ORPHA:96264 |
Trisomy 4P |
|
Smooth philtrum, Depressed nasal bridge, Camptodactyly of finger, Abnormality of the dentition, C... |
ORPHA:1738 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo... |
ORPHA:93346 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Yellow-brown discoloration of the te... |
ORPHA:83450 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon |
OMIM:235750 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Short neck, Depressed nasal ridge, Clinodactyly of the 5th finger, Abnorma... |
ORPHA:96263 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo... |
ORPHA:1458 |
Visceral Neuropathy, Familial, 2, Autosomal Recessive |
|
Chronic constipation, Short-segment aganglionic megacolon |
OMIM:619465 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Abnormal form of the vertebral b... |
ORPHA:819 |
Monosomy 5P |
|
Microretrognathia, Finger syndactyly, Recurrent fractures, Short neck, Microcephaly, Small hand, ... |
ORPHA:281 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Increased bone mineral density, Periapical tooth abscess, Enamel hypominerali... |
ORPHA:3352 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ... |
ORPHA:2972 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, De... |
OMIM:112350 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Anteriorly placed anu... |
OMIM:211380 |
Myopathy, Myofibrillar, 8 |
|
Micrognathia, Spinal rigidity, Distal joint laxity, Achilles tendon contracture, Dental malocclus... |
OMIM:617258 |
Aase-Smith Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Trismus, Cleft palate, Apl... |
ORPHA:916 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Vertebral seg... |
ORPHA:2631 |
Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... |
ORPHA:2869 |
Osteoglosphonic Dysplasia |
|
Anteverted nares, Choanal atresia, Craniosynostosis, Micrognathia, Cryptorchidism, Abnormal form ... |
ORPHA:2645 |
Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... |
OMIM:251450 |
Momo Syndrome |
|
Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Femoral bo... |
ORPHA:2563 |
Rothmund-Thomson Syndrome, Type 2 |
|
Delayed eruption of teeth, Mandibular prognathia, Congenital hip dislocation, Depressed nasal bri... |
OMIM:268400 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carp... |
OMIM:620269 |
Snijders Blok-Campeau Syndrome |
|
Joint laxity, Prominent nose, Wide nasal bridge, Taurodontia, High palate, Widely spaced teeth, S... |
OMIM:618205 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal... |
OMIM:101800 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, High ... |
OMIM:182212 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Narrow nasal bridge, Irregularity of vertebral bodies, Convex nasal ridge, Microcephaly, Hypoplas... |
ORPHA:85172 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Aganglionic megacolon |
OMIM:235740 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Micrognathia, Hyperlordosis, High, nar... |
ORPHA:2780 |
Momo Syndrome |
|
Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Wide nasal... |
OMIM:157980 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Dental malocclusion, Short first metatarsal, Thick vermilion ... |
OMIM:601957 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Short neck, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodactyly... |
ORPHA:915 |
Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Depressed nasal bridge, Sclerotic scapulae, 2-3 finger syndact... |
OMIM:269500 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Macrodontia, Small hand, Short foot, Short 5th finger, High palate, Cubitus valgus, Clinodactyly,... |
OMIM:300577 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the stomach... |
ORPHA:44890 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de... |
ORPHA:1782 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Relative macrocephaly, Dental crowding, Anteverted nares, Kyphoscolios... |
OMIM:616354 |
Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Aganglionic megacolon |
ORPHA:2150 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia, Prematur... |
OMIM:164200 |
Clark-Baraitser syndrome |
|
Joint laxity, Exaggerated median tongue furrow, Genu recurvatum, Anteverted nares, Tapered finger... |
OMIM:300602 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia |
OMIM:172880 |
Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Abnormal dental... |
ORPHA:319195 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cr... |
ORPHA:2863 |
Distal Deletion 12Q |
|
Micrognathia, Short neck, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of the 3r... |
ORPHA:96149 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra... |
OMIM:224300 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Joint laxity, Thin upper lip vermilion, Sacral dimple, Prominent nasal bridge, Micrognathia, Shor... |
OMIM:613544 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abdominal pain, Intestinal obstruction, Nausea and vomiting |
ORPHA:543 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Hypoplasia of the primary te... |
OMIM:257850 |
Short Stature, Dauber-Argente Type |
|
Long toe, Delayed eruption of teeth, Osteopenia, Arachnodactyly, Decreased fibular diameter, Micr... |
OMIM:619489 |
14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Exaggerated cupid's bow, Depressed nasal bridge, Micrognathia, Narrow mouth, Deep... |
ORPHA:261120 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Distal Duplication 18Q |
|
Arachnodactyly, Camptodactyly of finger, Abnormal dental morphology, Micrognathia, Carious teeth,... |
ORPHA:1716 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Short metacarpal, Enlarged joints, Kyphoscoliosis, Abnormality of the ... |
ORPHA:263463 |
Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Short metacarpal, Depressed nasal bridge, Thoracolumbar kyphoscolios... |
OMIM:618853 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Aganglionic megacolon |
ORPHA:2155 |
Acromicric Dysplasia |
|
Short metacarpal, Anteverted nares, Ovoid vertebral bodies, Joint stiffness, Narrow mouth, Bulbou... |
ORPHA:969 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Hyperlordosis, Supernumerary tooth, Tooth ... |
ORPHA:3353 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp... |
OMIM:215150 |
Faciocardiomelic Syndrome |
|
Osteopenia, Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, Cuboid-shaped v... |
OMIM:612731 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Short metatarsal... |
OMIM:612463 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Platyspondyly, Widely spaced teeth... |
OMIM:601216 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:261800 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Short humerus, Short metacarpal, Wide nose, Hyperlordosis, Depressed nasal... |
ORPHA:2831 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Abnormal form of the vertebral bodies, Clinodactyly of the 5... |
ORPHA:2710 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Short neck, Anteriorly placed anus, Downturned corners of mouth, Short phalanx of f... |
OMIM:616894 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... |
ORPHA:93357 |
Verheij Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Vertebral fusion, Joint laxity, Anteverted nares, Short... |
OMIM:615583 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Pierpont Syndrome |
|
Wide nose, Short neck, Microcephaly, Broad nasal tip, Short toe, Short nose, Cryptorchidism, Shor... |
OMIM:602342 |
Nance-Horan Syndrome |
|
Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Broad finger, Supernumerary max... |
OMIM:302350 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Coffin-Siris Syndrome 3 |
|
Joint laxity, Wide nose, Anteverted nares, Depressed nasal bridge, Microcephaly, Short distal pha... |
OMIM:614608 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Short neck, Reduced bone mineral density, Anteverted nares, Abnormal dental en... |
ORPHA:582 |
Fanconi Anemia, Complementation Group S |
|
Macrodontia, Anteverted nares, Proximal placement of thumb, Microcephaly, Prominent nasal bridge,... |
OMIM:617883 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, D... |
OMIM:619797 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Metaphyseal dysplasia, Abnormal nasopharynx morphology, Flared metaphysis,... |
OMIM:218400 |
Nemaline Myopathy 9 |
|
Micrognathia, Cleft palate, High palate, Scoliosis, Arthrogryposis multiplex congenita |
OMIM:615731 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormal dental morphology, Swelling of proximal interphalangeal joints, Interphalangeal joint co... |
ORPHA:69087 |
Autosomal Recessive Stickler Syndrome |
|
Epiphyseal dysplasia, Micrognathia, Cleft palate, Genu valgum, Irregular vertebral endplates, Pla... |
ORPHA:250984 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... |
OMIM:259600 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Rocker bottom foot, Kyphoscoliosis, Coxa valga, Carious teeth, Microgn... |
OMIM:214150 |
Acrocraniofacial Dysostosis |
|
Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Advance... |
ORPHA:949 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Anteverted nares, Micrognathia, Cryptorchidism, Short nose, Unilamb... |
OMIM:618577 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Rocker bottom foot, Anteverted nares, Microcephaly, Wide mouth, Delayed ... |
OMIM:618506 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, High palate, Premature loss of teet... |
OMIM:102500 |
Temple-Baraitser Syndrome |
|
Tented upper lip vermilion, Triangular shaped distal phalanx of the thumb, High palate, Thick nas... |
ORPHA:420561 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Micrognathia, Open bite, Carious teeth, Kyphosis, Microcephaly, Cryptorchidism, Congenital pylori... |
ORPHA:2617 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Wide nose, Recurrent fractures, Craniosynostosis, Persistence of primary teeth, High ... |
OMIM:147060 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis |
OMIM:600501 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Choanal atresia, Tracheomalacia, Abnormality of the dentition, Micrognathia, High, n... |
ORPHA:2108 |
Oliver Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Microcephaly, Short toe, Postaxial hand polydacty... |
ORPHA:2920 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Calcific stippling of infantile cartilaginous skeleton, Depressed nasal bridge, Kyphoscoliosis, M... |
OMIM:215100 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Broad nasal tip, Macrocephaly, Malar flattening, Open mouth, Retrognathia, Short nose |
OMIM:613670 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle... |
ORPHA:2790 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg... |
ORPHA:85184 |
Hypochondroplasia |
|
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Depressed nasal bridge, Fla... |
OMIM:146000 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... |
ORPHA:137888 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Syndactyly, Short metacarpal, Short neck, Metatarsus adductus, Microcephaly, C... |
OMIM:123450 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i... |
ORPHA:457395 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvaria... |
OMIM:259440 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Malabsorption, Abdomi... |
ORPHA:131 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... |
ORPHA:2712 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Thoracic kyphoscoliosis, Prominent nose, Carious teeth, ... |
OMIM:203550 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short femur, Micrognathia, Cryptorchidism, Abnormal sacrum morphology, ... |
ORPHA:1988 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Prominent nasal bridge, Abnormality of the dentition, Carious teeth, Prominent nose, Radioulnar s... |
ORPHA:3270 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Proximal placement of thumb, Micrognathia, Short neck, Wide nasal bridg... |
ORPHA:93267 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Carious teeth, Hypoplasia of the ma... |
ORPHA:50814 |
Fibrochondrogenesis 2 |
|
Anteverted nares, Micrognathia, Hypoplastic ilia, Metaphyseal widening, Short nose, Hypoplastic p... |
OMIM:614524 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2222 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Knee flexion contract... |
OMIM:265000 |
Cerebellofaciodental Syndrome |
|
Tapered finger, Short neck, Microcephaly, Cryptorchidism, Dental malocclusion, Shortening of all ... |
OMIM:616202 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,... |
ORPHA:439822 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow... |
OMIM:614753 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Clinodactyl... |
OMIM:616580 |
Dysostosis, Stanescu Type |
|
Persistent open anterior fontanelle, Short neck, Hypoplasia of the maxilla, Increased bone minera... |
ORPHA:1798 |
Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Osteopenia, Abnormal trabecular bone morpholog... |
ORPHA:2909 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... |
OMIM:101200 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thorac... |
OMIM:271510 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Thin upper lip vermilion, Micrognathia, Congenital contracture, Secondary microcephaly, High pala... |
OMIM:615042 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Micrognathia, Abnormal pelvis bone ossification, Anterior rib punc... |
ORPHA:1426 |
Diastrophic Dysplasia |
|
Joint dislocation, Proximal placement of thumb, Micrognathia, Symphalangism affecting the phalang... |
ORPHA:628 |
Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Wide cranial sutures, Dental malocclusion, Wide nasal bridge, Clinodact... |
OMIM:619149 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Abnormal intervertebral disk morphology, Anteverted nares, Carious teeth, Cryptorchidism, Deep ph... |
ORPHA:2701 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli... |
OMIM:300373 |
Cranioectodermal Dysplasia 4 |
|
Anteverted nares, Joint hypermobility, Sagittal craniosynostosis, Hip dysplasia, Cutaneous finger... |
OMIM:614378 |
Beaulieu-Boycott-Innes Syndrome |
|
Microcephaly, Carious teeth, Micrognathia, Velopharyngeal insufficiency, Long nose, Dental malocc... |
OMIM:613680 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Depressed nasal bridge, Sho... |
ORPHA:90650 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... |
OMIM:253000 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Achondrogenesis |
|
Anteverted nares, Short neck, Micrognathia, Abnormal enchondral ossification, Macrocephaly, Abnor... |
ORPHA:932 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial... |
ORPHA:1427 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Micro... |
ORPHA:2484 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Glosso... |
ORPHA:94068 |
Peho-Like Syndrome |
|
Tapered finger, Progressive microcephaly, Open mouth, Retrognathia, Short nose |
OMIM:617507 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate, Micrognathia |
ORPHA:718 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... |
OMIM:311200 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Thin upper lip vermilion, Slender nose, Micrognathia, Microcephaly, Cryptorchidism, Wide mouth, J... |
OMIM:615419 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Femoral bowing, Shor... |
OMIM:616723 |
Chime Syndrome |
|
Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,... |
ORPHA:3474 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Down-sloping shoulders, Abnormality of the nose, Carious teeth, Joint hyperflexibility, Scoliosis... |
ORPHA:1390 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Micrognathia, Bowing of the legs, Cleft palate, Bowing of the arm, Retro... |
OMIM:249710 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Overlapping toe, Abnormality of the dentition, Carious teeth, Long nose, Thin lower lip vermilion... |
ORPHA:363444 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Sandal gap, Cervical kyphosis, Depressed nasal bridg... |
OMIM:108721 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Brachydactyly, Thoracic scoliosis, Multiple joint contractures, Selective tooth agene... |
ORPHA:2959 |
Achondrogenesis Type 1A |
|
Short palm, Anteverted nares, Recurrent fractures, Micrognathia, Abnormal enchondral ossification... |
ORPHA:93299 |
Hamamy Syndrome |
|
Osteopenia, Micrognathia, High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, Ante... |
OMIM:611174 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Anteverted nares, Phalangeal dislocation, Micrognathia, Elbow dislocation, ... |
OMIM:264180 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Hyperlordosis, Joint stiffness, Cleft palate, Reduced bone mineral den... |
ORPHA:577 |
Myopathy, Centronuclear, X-Linked |
|
Arachnodactyly, Pyloric stenosis, Cryptorchidism, Flexion contracture, Dental malocclusion, Slend... |
OMIM:310400 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... |
OMIM:243150 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Congenital hip dislocation, Anteverted nares, Microcephaly, Carious teeth, Wide anterior fontanel... |
OMIM:219200 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Abnormal nas... |
ORPHA:1133 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Carious teeth, Osteoporosis, Inc... |
OMIM:136300 |
Legg-Calvé-Perthes Disease |
|
Joint dislocation, Cartilage destruction, Abnormality of the dentition |
ORPHA:2380 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2026 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Abnormal form of the vertebral bodies, Bip... |
ORPHA:818 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Vertebral fusion, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, M... |
OMIM:227330 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... |
OMIM:269250 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... |
ORPHA:93316 |
Kniest Dysplasia |
|
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal ... |
OMIM:156550 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Anteverted nares, Prominent... |
ORPHA:2180 |
Acromicric Dysplasia |
|
Short metacarpal, Anteverted nares, Ovoid vertebral bodies, Narrow mouth, Deep philtrum, Thick lo... |
OMIM:102370 |
Achondrogenesis Type 1B |
|
Anteverted nares, Micrognathia, Short neck, Abnormal enchondral ossification, Macrocephaly, Short... |
ORPHA:93298 |
Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, High palate, Widely spaced teet... |
ORPHA:192 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Constipation, Dysphagia |
OMIM:606764 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Anteverted nares, Depressed nasal bridge, Tapered finger, Supernumerary tooth, Thin vermilion bor... |
ORPHA:86818 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
3M Syndrome |
|
Congenital hip dislocation, Short neck, Increased vertebral height, Clinodactyly of the 5th finge... |
ORPHA:2616 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Short neck, Abnormal soft ... |
ORPHA:884 |
Chung-Jansen Syndrome |
|
Anteverted nares, Tapered finger, Micrognathia, Cryptorchidism, Hip dysplasia, Thin vermilion bor... |
OMIM:617991 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Camptodactyly of finger, Dep... |
ORPHA:1529 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Dental malo... |
OMIM:618727 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Camptodactyly of finger, Microcephaly, Micrognathia, Narrow mouth, Short nose, Abnormal palate mo... |
ORPHA:1495 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Wide cranial sutures, Dental crowding, Limited elbow movement, Micrognathia, D... |
OMIM:614008 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Anteverted nares, Depressed nasal bridge, Cryptorchidism... |
OMIM:614613 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Tapered finger, Micrognathia, Short neck, Wide nasal bridge, Narrow palate, Hypoplasia of teeth, ... |
OMIM:620250 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Wide nose, Sandal gap, Anteverted nares, Depressed nasal bridge, Micro... |
OMIM:614607 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Anteverted nares, Persistence of primary teeth, Micrognathia, Microcephaly, Thic... |
OMIM:618342 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Clinodactyly, High palate, Sho... |
OMIM:614188 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Micrognathia, Microcephaly, Narrow mouth, Short nose, Delayed eruption of perma... |
OMIM:619356 |
Trisomy 9P |
|
Sacral dimple, Dental crowding, Short neck, Microcephaly, Kyphosis, Non-midline cleft lip, Abnorm... |
ORPHA:236 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Micrognathia, Short neck, Downturned corners of mouth, Oligodontia, Short philtrum, Joint laxity,... |
ORPHA:391408 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue,... |
ORPHA:561 |
Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short femur, Fractured radius, Anteverted nares, Decreased fibular diameter, Microgna... |
OMIM:616897 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Prominent nose, Long nose, Depressed nasal ridge, Abnormal form of the ver... |
ORPHA:2769 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ... |
ORPHA:2050 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla... |
ORPHA:1856 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Microcephaly, Joint stiffness, Non-midl... |
ORPHA:1915 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Malar flattening, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Coronal cleft ver... |
OMIM:118651 |
Anonychia With Flexural Pigmentation |
|
Carious teeth, Convex nasal ridge |
ORPHA:69125 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing, Platyspondyly, Scol... |
OMIM:126550 |
Seckel Syndrome 5 |
|
Selective tooth agenesis, Prominent nasal bridge, Micrognathia, Microcephaly, Cryptorchidism, Cle... |
OMIM:613823 |
Cerebellar-Facial-Dental Syndrome |
|
Anteverted nares, Foot joint contracture, Tapered finger, Micrognathia, Short neck, Microcephaly,... |
ORPHA:444072 |
Takenouchi-Kosaki Syndrome |
|
Thin upper lip vermilion, Overlapping toe, Proximal placement of thumb, Tapered finger, Cryptorch... |
OMIM:616737 |
Laron Syndrome |
|
Delayed eruption of teeth, Hypoplastic nasal bridge, Aplasia/Hypoplasia involving the nose, Micro... |
ORPHA:633 |
Acrofacial Dysostosis, Catania Type |
|
Microcephaly, Carious teeth, Cryptorchidism, Short palm, Spina bifida occulta |
OMIM:101805 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Delayed eruption of teeth, Mandibular prognathia, Abnormal dental enamel morphology, Tooth agenes... |
ORPHA:2325 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty... |
ORPHA:97360 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Short neck, Hypoplastic ilia, Wide anterior fontan... |
ORPHA:2347 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Hemivertebrae, Coxa vara, Clinodactyly of the 5th finger, Syndactyly, Anteverted nares, 2-3 toe s... |
OMIM:614701 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Finger syndactyly, Micrognathia, Short nose, Spina bifida occulta |
ORPHA:1514 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Depressed n... |
ORPHA:163966 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Abnormal intestine morphology, V... |
OMIM:226300 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Abnormal form of the vertebral bodies, Short palm, Failure of eruption of pe... |
ORPHA:3238 |
Infantile Myofibromatosis |
|
Intestinal obstruction, Abnormal intestine morphology, Tracheoesophageal fistula |
ORPHA:2591 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Abnormality of the dentition, Carious teeth, Microcephaly, ... |
ORPHA:1786 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Narrow... |
OMIM:156530 |
Cenani-Lenz Syndrome |
|
High, narrow palate, Abnormal form of the vertebral bodies, Foot oligodactyly, Short philtrum, Sy... |
ORPHA:3258 |
Isolated Congenital Hypoglossia/Aglossia |
|
Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Mic... |
ORPHA:141152 |
Kabuki Syndrome 2 |
|
Joint laxity, Natal tooth, Micrognathia, Microcephaly, Broad nasal tip, Lower lip pit, Hip disloc... |
OMIM:300867 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Bowing of the legs, Micrognathia, Short neck, Meta... |
OMIM:255800 |
Trigonocephaly 1 |
|
Craniosynostosis, Microcephaly, High, narrow palate, Wide nasal bridge, Lumbar hemivertebrae, Met... |
OMIM:190440 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... |
ORPHA:411696 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Micrognathia, Short neck, Wide anterior fontanel, Metaphyseal widening, Microcephaly, Underdevelo... |
OMIM:263210 |
Perlman Syndrome |
|
Anteverted nares, Micrognathia, High, narrow palate, Cryptorchidism, Short nose, Wide nasal bridg... |
ORPHA:2849 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Bowing of the legs, Micrognathia, Short neck, Depressed nasal ridge, Triangular shaped distal pha... |
OMIM:271665 |
Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Joint dislocation, Dental crowding, Short neck, Knee flexion contracture, ... |
OMIM:193700 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Broad hallux, Deviation of the hallux, Accessory oral frenulum, Hamartoma of t... |
ORPHA:434179 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Abnormality of the dentition, Micrognathia, Microcephaly, Cryptorchidism, Thick lower lip vermili... |
ORPHA:85321 |
Schimke Immuno-Osseous Dysplasia |
|
Wide capital femoral epiphyses, Lumbar hyperlordosis, Ovoid vertebral bodies, Depressed nasal bri... |
ORPHA:1830 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Short palm,... |
OMIM:268310 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... |
OMIM:253010 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, Depressed nasal bridge, Conical tooth, Cleft upper lip, Carious teeth, 2-3 toe cutane... |
OMIM:129400 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m... |
OMIM:618371 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Osteopenia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt... |
OMIM:166250 |
Stickler Syndrome, Type I |
|
Arthropathy, Micrognathia, Osteoarthritis, Bifid uvula, Arachnodactyly, Anteverted nares, Depress... |
OMIM:108300 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Anauxetic Dysplasia 1 |
|
Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Microdontia, Joint laxity, Lumb... |
OMIM:607095 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Microcephaly, Micrognathia, Cleft palate, Arthrogryposis multiplex congenita |
OMIM:616570 |
Adenylosuccinate Lyase Deficiency |
|
Thin upper lip vermilion, Prominent metopic ridge, Anteverted nares, Microcephaly, Long philtrum,... |
ORPHA:46 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Noonan Syndrome 4 |
|
Depressed nasal bridge, Short neck, Cryptorchidism, Dental malocclusion, Wide mouth, Thick vermil... |
OMIM:610733 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Rectal prolapse, Thick nasal sept... |
OMIM:303600 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ... |
OMIM:259420 |
Waardenburg Syndrome, Type 4B |
|
Aganglionic megacolon |
OMIM:613265 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Osteopenia, Wide cranial sutures, Recurrent fractures, Kyphosis, Platyspondyly... |
OMIM:616294 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contracture of the p... |
OMIM:300166 |
Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Limitation of joint mobility, Cleft p... |
ORPHA:376 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foo... |
OMIM:206920 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Short neck, Deep philtrum, Hig... |
OMIM:115150 |
Dental Ankylosis |
|
Clinodactyly of the 5th finger, Tooth agenesis, Mandibular prognathia, Abnormal dental enamel mor... |
ORPHA:1077 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short... |
OMIM:201000 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Osteopenia, Beaking of vertebral ... |
OMIM:231070 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal oral mucosa mo... |
ORPHA:2136 |
Mosaic Trisomy 14 |
|
Anteverted nares, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Short neck, Cryp... |
ORPHA:1703 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurr... |
OMIM:277440 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Vert... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Vert... |
ORPHA:352665 |
Waardenburg Syndrome |
|
Abnormality of the gastrointestinal tract, Aganglionic megacolon, Intestinal obstruction, Aplasia... |
ORPHA:3440 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Short neck, Hypoplasia of the maxilla, Bilateral cryptor... |
OMIM:305400 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Prominent nose, Supernumerary tooth, Underdeveloped nasal alae, Wide... |
ORPHA:90024 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Flexion contracture, Hypoplastic iliac wing, Short p... |
OMIM:611717 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o... |
OMIM:616007 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Thick nasal alae, Hypoplasti... |
ORPHA:79345 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Micrognathia, Microcephaly, Cryptorchidism, Joint stiffness, Cleft palate, Tooth agenesis, Verteb... |
ORPHA:1166 |
Cornelia De Lange Syndrome 5 |
|
Proximal placement of thumb, Micrognathia, Short neck, Downturned corners of mouth, High palate, ... |
OMIM:300882 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Reduced bone mineral ... |
OMIM:166220 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
High palate, Aganglionic megacolon |
OMIM:304100 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Micrognathia, ... |
OMIM:217980 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly |
OMIM:613382 |
Phelan-Mcdermid Syndrome |
|
Sacral dimple, Micrognathia, Microcephaly, Bulbous nose, Dental malocclusion, 2-3 toe syndactyly,... |
OMIM:606232 |
Desbuquois Dysplasia 2 |
|
Dental crowding, Short neck, Metaphyseal widening, Knee dislocation, Short phalanx of finger, Bif... |
OMIM:615777 |
Short Syndrome |
|
Delayed eruption of teeth, Enlarged epiphyses, Joint laxity, Micrognathia, Underdeveloped nasal a... |
OMIM:269880 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol... |
OMIM:614856 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Mandibular prognathia, Relative macrocephaly, Joint laxity, Lumbar hyperlordosis, Short neck, Met... |
OMIM:612813 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Depressed nasal bridge, Postaxial polydactyly, Accessory oral frenulum, Postaxi... |
OMIM:617088 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne... |
OMIM:601812 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B... |
OMIM:609052 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Relative macrocephaly, Congenital hip dislocation, Macroglossia, Wormi... |
OMIM:614450 |
Ohdo Syndrome |
|
Joint laxity, Anteverted nares, Depressed nasal bridge, Micrognathia, Cryptorchidism, Wide nasal ... |
OMIM:249620 |
Lowry-Maclean Syndrome |
|
Osteopenia, Short nasal bridge, Choanal atresia, Delayed eruption of primary teeth, Micrognathia,... |
ORPHA:2409 |
Pseudodiastrophic Dysplasia |
|
Phalangeal dislocation, Elbow dislocation, Platyspondyly, Scoliosis, Malar flattening |
ORPHA:85174 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Flexion contr... |
ORPHA:88630 |
Cleft Palate-Lateral Synechia Syndrome |
|
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia |
ORPHA:2016 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... |
ORPHA:2751 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb... |
OMIM:619795 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Short palm, Wide nose, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Tapered finger, ... |
OMIM:272430 |
Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Median cleft lip, Depressed nasal bridge, Micrognathia, Microcephaly, Postaxial h... |
OMIM:241800 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micro... |
OMIM:600325 |
Ramon Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Osteolysis, ... |
ORPHA:3019 |
Intellectual Disability, Birk-Barel Type |
|
Narrow nasal bridge, Sacral dimple, Tented upper lip vermilion, Foot joint contracture, Micrognat... |
ORPHA:166108 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Dental crowding, Micrognathia, Oligodontia, High palate, Short philtrum, Clinodactyly of the 5th ... |
OMIM:617061 |
2Q32Q33 Microdeletion Syndrome |
|
Decreased testicular size, Broad hallux phalanx, Arachnodactyly, Dental crowding, Anteverted nare... |
ORPHA:251019 |
Geroderma Osteodysplastica |
|
Mandibular prognathia, Beaking of vertebral bodies, Recurrent fractures, Hip dislocation, Osteopo... |
ORPHA:2078 |
17P13.3 Microduplication Syndrome |
|
Wide nose, Congenital hip dislocation, Short neck, High palate, Narrow mouth, Clinodactyly of the... |
ORPHA:217385 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Depressed nasal bridg... |
ORPHA:261144 |
Temple Syndrome |
|
Relative macrocephaly, Decreased testicular size, Wide nose, Anteverted nares, Depressed nasal br... |
OMIM:616222 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Bulbous nose, Pierre-Robin sequence, Sh... |
OMIM:613604 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Cervical kyphosis, Convex nasal ridge, Micrognathia, Abn... |
ORPHA:666 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide nose, Iliac crest serration, Anteverted nares, Depressed nasal bridge, Short neck, Wide dist... |
OMIM:613320 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... |
OMIM:300232 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Craniosynosto... |
ORPHA:171839 |
Oculoauriculofrontonasal Syndrome |
|
Wide nose, Micrognathia, Microcephaly, Cleft lip, Underdeveloped nasal alae, Bifid nasal tip, Cle... |
ORPHA:398156 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Short metacarpal, Iliac crest serration, Hypopla... |
OMIM:607326 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co... |
OMIM:180700 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Prominent nasal bridge, Joint hypermobility, Microcephaly, Long nose, Joint stif... |
OMIM:619184 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Dental cr... |
OMIM:617201 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Depressed nasal bridge, Camptodactyly of finger, Abnorma... |
ORPHA:2635 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... |
OMIM:137550 |
Piebald Trait-Neurologic Defects Syndrome |
|
Aganglionic megacolon |
ORPHA:2885 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Mandibular prognathia, Prominent metopic ridge, Kyphosis, Cleft palate, Short philtrum, Scoliosis |
ORPHA:85317 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... |
OMIM:600002 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Prominent nasal bridge, Short toe, Cone-shaped epiphyses of the phalanges of the hand... |
OMIM:619269 |
Isotretinoin Syndrome |
|
Sacral dimple, Depressed nasal bridge, Micrognathia, Cleft palate, Biparietal narrowing, Spina bi... |
ORPHA:2305 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Everted upper lip vermilion, Depressed nasal ridge, Everted lower lip ... |
ORPHA:181 |
Malignant Peritoneal Mesothelioma |
|
Abdominal distention, Peritonitis, Ileus, Abdominal pain |
ORPHA:168811 |
Neuroblastoma, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:613013 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Recur... |
ORPHA:343 |
Saul-Wilson Syndrome |
|
Narrow nasal bridge, Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Co... |
OMIM:618150 |
Spermatogenic Failure 81 |
|
Acrosomal hypoplasia, Multiple non-erupting secondary teeth, Oligozoospermia |
OMIM:620277 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Microcephaly, Micrognathia, High palate, Scoliosis, Short nose |
ORPHA:1913 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Abnormal curvature of the vertebral column, Abnormality of the cervical spine, J... |
ORPHA:353281 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Craniosynostosis, Micrognathia, Split hand, Cleft palate, Malar flattening, Sh... |
ORPHA:2145 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Microcephaly, Kyph... |
ORPHA:3121 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Short toe, Short... |
OMIM:103580 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Vertebral wedgi... |
OMIM:301014 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Anteverted nares, Thor... |
OMIM:313420 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Short neck, Bifid nasal tip, Vertebral clefting, Depressed nasal ridge, Cor... |
OMIM:616854 |
C Syndrome |
|
Micrognathia, Clinodactyly, High palate, Dislocated radial head, Short metacarpal, Anteverted nar... |
OMIM:211750 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Micrognathia, Microcephaly, Broad nasal tip, 2-3 toe syndactyly, Cleft palate, A... |
OMIM:239800 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea |
OMIM:251850 |
Waardenburg Syndrome Type 2 |
|
Aganglionic megacolon |
ORPHA:895 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Microcephaly, Flexion contracture, Hip dysplasia, Scoliosis, Short nose |
OMIM:618379 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
|
Long toe, Arachnodactyly, Microcephaly, Broad nasal tip, Cleft lip, Cleft palate, Thoracic kyphosis |
OMIM:300263 |
Smith-Mccort Dysplasia 2 |
|
Mandibular prognathia, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Sho... |
OMIM:615222 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Non-Distal Duplication 13Q |
|
Arachnodactyly, Abnormality of the dentition, Micrognathia, Microcephaly, Postaxial hand polydact... |
ORPHA:1702 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Widely spaced teeth, Cleft soft palate, Tapered finger, Cryptorchidism, Supernumerary tooth, Scol... |
ORPHA:268261 |
Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Sandal gap, Exaggerated cupid's bow, Anteverted nares, Microcephaly, De... |
OMIM:617752 |
Filippi Syndrome |
|
Microcephaly, 2-4 toe syndactyly, Underdeveloped nasal alae, Low hanging columella, Cryptorchidis... |
OMIM:272440 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Broad nasal tip, Recurrent upper respiratory tract infections, Short nose,... |
ORPHA:391372 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Proximal f... |
OMIM:609324 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Depressed nasal ridge, Hypodontia |
ORPHA:1816 |
Parc Syndrome |
|
Microretrognathia, Cleft palate |
OMIM:600331 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contracture, 2-3 toe syndactyly,... |
OMIM:218000 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, Promine... |
ORPHA:364577 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Depressed nasal... |
OMIM:608022 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Osteopenia, Thin upper lip vermilion, Joint hypermobility, Abnormality of the dentition, Celiac d... |
ORPHA:576283 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... |
OMIM:155310 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Anteverted nares, Depressed nasal bridge, Increased intervertebral space, Thoracic... |
OMIM:618961 |
Codas Syndrome |
|
Congenital hip dislocation, Proximal placement of thumb, Broad skull, Generalized joint laxity, S... |
OMIM:600373 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Pterygium, Anteverted nares, Craniosynostosis, Micrognathia, E... |
ORPHA:93329 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Arachnodactyly, Dental crowding, Sandal gap, Intestinal malrotation, Carious teeth, Kyphosis, Lon... |
OMIM:617602 |
X-Linked Creatine Transporter Deficiency |
|
Constipation, Ileus, Aganglionic megacolon |
ORPHA:52503 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Kyphosis,... |
ORPHA:1855 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Prominent nose, Bi... |
OMIM:180849 |
Gapo Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Thick nasal alae, Anteverted nares, Depressed n... |
ORPHA:2067 |
Gomez-Lopez-Hernandez Syndrome |
|
Anteverted nares, Craniosynostosis, Wide anterior fontanel, Thin vermilion border, High palate, W... |
OMIM:601853 |
Diabetes Insipidus, Neurohypophyseal |
|
Osteopenia, Wide nose, Short nose, Long philtrum |
OMIM:125700 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot, Malar flattening |
OMIM:183700 |
Cantu Syndrome |
|
Broad hallux, Ovoid vertebral bodies, Short hallux, Coxa valga, Short neck, Anteverted nares, Met... |
OMIM:239850 |
Harel-Yoon Syndrome |
|
Mandibular prognathia, Micrognathia, Hip dysplasia, Scoliosis, Short nose |
OMIM:617183 |
Char Syndrome |
|
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Depressed nasal bridge, P... |
ORPHA:46627 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Abnormality of the knee, Broad radial metaphysis, Abnormal intervertebral disk m... |
ORPHA:99642 |
Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth, Flexion contracture, Kyphoscoliosis, Microcephaly |
OMIM:617105 |
Acrofacial Dysostosis, Weyers Type |
|
Conical tooth, Abnormality of the dentition, Postaxial hand polydactyly, Small hand, Advanced eru... |
ORPHA:952 |
Distal Deletion 10P |
|
Micrognathia, Short neck, Microcephaly, Non-midline cleft lip, Abnormality of the elbow, Cryptorc... |
ORPHA:1580 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Microretrognathia, Bowing of the long bones, Osteopenia, Recurrent fractures, ... |
OMIM:616229 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspondyly, Delayed o... |
OMIM:617974 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Micrognathia, Joint stiffness, Long fingers, Ulnar deviation o... |
ORPHA:1895 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... |
OMIM:272460 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid process, Cli... |
OMIM:184250 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Abnormality... |
ORPHA:476126 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Micrognathia, Short neck, Tibial bowing, Femoral bowing, Knee flexion contractur... |
OMIM:601559 |
Congenital Central Hypoventilation Syndrome |
|
Abnormality of the autonomic nervous system, Aganglionic megacolon |
ORPHA:661 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Autosomal Dominant Omodysplasia |
|
Short palm, Short humerus, Depressed nasal bridge, Micrognathia, Elbow dislocation, Cryptorchidis... |
ORPHA:93328 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Micrognathia, Short neck, Knee flexion contracture, Cutaneous finger ... |
OMIM:114300 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Pyloric stenosis, Cryptorchidi... |
ORPHA:96184 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... |
OMIM:617519 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Microcephaly, Cl... |
OMIM:615948 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Joint hypermobility, Macroorc... |
OMIM:300143 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Elbow di... |
ORPHA:2916 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, High palate, Depress... |
OMIM:226980 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Abno... |
ORPHA:2314 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Abn... |
ORPHA:85198 |
Stickler Syndrome, Type Ii |
|
Arthropathy, Arachnodactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, Long fingers... |
OMIM:604841 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Tapered finger, Dental malocc... |
OMIM:618975 |
Hypophosphatasia, Childhood |
|
Carious teeth, Craniosynostosis, Premature loss of primary teeth, Bowing of the legs |
OMIM:241510 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
Ring Chromosome 8 Syndrome |
|
Deviation of finger, Short nose, Anteverted nares, Abnormal palate morphology |
ORPHA:1450 |
Kbg Syndrome |
|
Thin upper lip vermilion, Persistent open anterior fontanelle, Vertebral fusion, Macrodontia, Ant... |
ORPHA:2332 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde... |
ORPHA:1159 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Down-sloping shoulders, Tapered finger, Carious teeth, Dental malocclusion, Wi... |
OMIM:615560 |
Vitamin K Antagonist Embryofetopathy |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Punctate vertebral calcifi... |
ORPHA:1914 |
Atelosteogenesis, Type I |
|
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia... |
OMIM:108720 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Genu valgum, Irreg... |
OMIM:609223 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Genu recurvatum, Anteverted nares, Reduced bone mineral density, Downturned corners of mouth, Sle... |
ORPHA:1185 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo... |
ORPHA:536467 |
Tetrasomy 5P |
|
Overlapping toe, Anteverted nares, Short hallux, Micrognathia, Short neck, Long fingers, Wide ant... |
ORPHA:3309 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Short metatarsal... |
OMIM:612462 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Syndactyly, Depressed nasal bridge, Short neck, Cryptorchidism, Bulbous no... |
ORPHA:369891 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Relative macrocephaly, Broad hallux, Sandal gap, Cleft soft palate, Abnormality of the dentition,... |
OMIM:618529 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Short neck, Cleft maxillary alveo... |
ORPHA:508488 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... |
ORPHA:163665 |
Short Stature, Brussels Type |
|
Microretrognathia, Delayed epiphyseal ossification, Calcification of cartilage, Macrocephaly |
ORPHA:2867 |
Trisomy 12P |
|
Micrognathia, Short neck, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Everted l... |
ORPHA:1699 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Congenital hip dislocation, Anteverted nares, Limited elbow movement, Micrognathi... |
OMIM:615065 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Increased bone mineral density, Antevert... |
ORPHA:50945 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurr... |
OMIM:264700 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Macroorchidism, Osteomalacia, Recurrent fractures, Fibrous dyspl... |
ORPHA:562 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Baker-Gordon Syndrome |
|
Joint laxity, Thin upper lip vermilion, Scoliosis, Prominent nasal tip, Short nose, Smooth philtrum |
OMIM:618218 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Inc... |
OMIM:166200 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Anteverted nares, Cleft upper lip, Short neck, Microcephaly, Duplicatio... |
OMIM:243310 |
Marbach-Rustad Progeroid Syndrome |
|
Femur fracture, Delayed eruption of primary teeth, Micrognathia, Microcephaly, Reduced bone miner... |
OMIM:619322 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Abnormal carpal morpholog... |
ORPHA:85166 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Downturned corners of mouth, Advanced eruption of teeth, Prominence of the zygomatic bone, Finger... |
ORPHA:2215 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Micrognathia, Short neck, Hemivertebrae, Short philtrum, High palate, Dia... |
ORPHA:96121 |
Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Microcephaly, Pierre-Robin sequ... |
ORPHA:1358 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Arachnodactyly, Carious teeth, Cryptorchidism, Hemiverte... |
ORPHA:377 |
Trisomy 20P |
|
Micrognathia, Short neck, Abnormal form of the vertebral bodies, Reduced bone mineral density, Do... |
ORPHA:261318 |
Omodysplasia 2 |
|
Short humerus, Tented upper lip vermilion, Depressed nasal bridge, Bilateral cleft lip, Micrognat... |
OMIM:164745 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Abnormality of the... |
ORPHA:2994 |
Albers-Schönberg Osteopetrosis |
|
Joint dislocation, Osteomyelitis, Recurrent fractures, Abnormality of the dentition, Carious teet... |
ORPHA:53 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti... |
OMIM:223800 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose |
ORPHA:1355 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali... |
ORPHA:353277 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Micrognathia, Crowded maxillary incisors, Cryptorchidism, Abnormal femur... |
ORPHA:2063 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, D... |
ORPHA:85450 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Coxa valga, Microgna... |
OMIM:619833 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Wide nose, Anteverted nares, Micrognathia, Hypo... |
OMIM:209885 |
Waardenburg Syndrome, Type 4A |
|
Aganglionic megacolon |
OMIM:277580 |
Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Anteverted nares, Hyperlordosis, Microcephaly, Pierre-Robin sequenc... |
OMIM:619980 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Median cleft lip, Absent thumb, Aplasia/Hypoplasia of the dist... |
ORPHA:1234 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
8P Inverted Duplication/Deletion Syndrome |
|
Anteverted nares, Micrognathia, Short neck, Long fingers, High, narrow palate, Cryptorchidism, Ab... |
ORPHA:96092 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... |
OMIM:183900 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Anteverted nares, Choanal atresia, Rec... |
ORPHA:83 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Carious ... |
OMIM:259710 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Microcephaly, Long nose, Und... |
OMIM:615866 |
Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Decreased... |
OMIM:614592 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Protracted diarrh... |
ORPHA:67 |
Isolated Osteopoikilosis |
|
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... |
ORPHA:166119 |
Coffin-Siris Syndrome 6 |
|
Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Broad nasal tip, High, narrow palate, Deep ... |
OMIM:617808 |
Facial Paresis, Hereditary Congenital, 3 |
|
Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Short nose, D... |
OMIM:614744 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Metaphyseal widening, Flexion contracture, Short metatarsal, Cox... |
ORPHA:93307 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Postaxial hand polydactyly, Long philtrum, Short nose, Abnormal palate morphology |
ORPHA:1389 |
Orofaciodigital Syndrome Xi |
|
Kyphoscoliosis, Postaxial polydactyly, Hypoplasia of the odontoid process, Bulbous nose, Wide nas... |
OMIM:612913 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Dental crowding, Narrow nasal ridge, Micrognathia, Short nose, Flexion contracture, Hypoplasia of... |
OMIM:608612 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Overlapping toe, Proximal placement of thum... |
ORPHA:487796 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Exocrine pancreatic insufficiency, Aganglionic megacolon, Malabsorption |
ORPHA:452 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Micrognathia, Prominent nose, Hemivertebrae, Depressed nasal ridge, Downtu... |
OMIM:156200 |
Stickler Syndrome |
|
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge... |
ORPHA:828 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... |
OMIM:143095 |
Apert Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ma... |
ORPHA:87 |
Raine Syndrome |
|
Mandibular prognathia, Micrognathia, Short neck, High palate, Choanal stenosis, Microdontia, Long... |
OMIM:259775 |
L1 Syndrome |
|
Nausea and vomiting, Aganglionic megacolon |
ORPHA:275543 |
Lethal Recessive Chondrodysplasia |
|
Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow metaphyses |
ORPHA:1423 |
Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Os... |
OMIM:177170 |
Cohen Syndrome |
|
Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Prominent nasal bridge, Tapered finge... |
OMIM:216550 |
Localized Scleroderma |
|
Abnormality of the dentition, Abnormality of the nose, Flexion contracture, Dental malocclusion, ... |
ORPHA:90289 |
3C Syndrome |
|
Finger syndactyly, Depressed nasal bridge, Intestinal malrotation, Micrognathia, Short neck, High... |
ORPHA:7 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig... |
ORPHA:235 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Microcephaly, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Kyphoscoliosis, Microcephaly, Hip dislocation, Wide nasal bridge, Joint contracture, ... |
OMIM:618005 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Overlapping toe, Short neck, Cleft lip, Deep philtrum, Bulbous nose, Wide nasa... |
OMIM:618571 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Lon... |
ORPHA:508533 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Microdontia, Microretrognathia, W... |
OMIM:278250 |
Achondroplasia |
|
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg... |
ORPHA:90652 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Glossoptosis, Vertebral segmentation de... |
OMIM:611209 |
Leiomyoma Of Vulva And Esophagus |
|
Esophageal obstruction |
OMIM:150700 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis... |
ORPHA:2619 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Decreased ... |
ORPHA:103907 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Microcephaly, Micrognathia, Flexion contracture, Osteoporosis, Secondary microcephaly,... |
OMIM:615851 |
Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Dental crowding, Anteverted nares, Sagittal craniosynostos... |
OMIM:145420 |
Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, Multiple joint contractures, Micrognathia, High pala... |
ORPHA:96170 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Camptodactyly of finger, Prominent nasal bridge, Microcephaly, Micrognathia, Short neck, Underdev... |
ORPHA:2083 |
Marden-Walker Syndrome |
|
Arachnodactyly, Anteverted nares, Micrognathia, Short neck, Wide anterior fontanel, High, narrow ... |
OMIM:248700 |
Sotos Syndrome |
|
Mandibular prognathia, Joint laxity, Anteverted nares, Depressed nasal bridge, Broad nasal tip, H... |
OMIM:117550 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Joint laxity, Wide nose, Broad hallux, Arachnodactyly, Prominent nasal bridge, Prominent nose, Cu... |
OMIM:601552 |
X-Linked Intellectual Disability, Abidi Type |
|
Prominent nasal bridge, Microcephaly, Non-midline cleft lip, Cleft palate, Scoliosis, Decreased t... |
ORPHA:85273 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O... |
ORPHA:289176 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Broad long bones, Anteverted nares, Depressed nasal bridge, Abnormal metatarsal morphology, Short... |
ORPHA:163654 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi... |
ORPHA:90363 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand |
OMIM:608257 |
Eem Syndrome |
|
Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Ectrodact... |
ORPHA:1897 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... |
ORPHA:166011 |
W Syndrome |
|
Hypoplasia of the ulna, Radial bowing, Broad uvula, Depressed nasal bridge, Broad nasal tip, Meta... |
ORPHA:2804 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Gapo Syndrome |
|
Anteverted nares, Depressed nasal bridge, Delayed closure of the anterior fontanelle, Micrognathi... |
OMIM:230740 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Micrognathia, Hyperlordosis, Dental malocclusion, Wide nasal bridge, Lo... |
ORPHA:73223 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Limb joint contracture, Kyphoscoliosis, Microcephaly, Carious teeth, Hypodontia |
OMIM:612079 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Abnormality of the ... |
OMIM:615398 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Thin long bone diaphyses, Kyphoscoliosis, Recurrent fractures, Hip d... |
OMIM:616507 |
Dermotrichic Syndrome |
|
Aganglionic megacolon |
ORPHA:99688 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Micrognathia, Short neck, High, narrow palate, Microcephaly, Underdeveloped nasal alae, Joint sti... |
ORPHA:2516 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Depressed nasal bridge, Postaxial polydactyly, Hamartoma of tongue, Esophageal diver... |
OMIM:617925 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Wide nose, Micrognathia, Underdeveloped nasal alae, Supernumerary tooth, Osteoporosis, Concave na... |
OMIM:619525 |
Atelosteogenesis Type I |
|
Joint dislocation, Short femur, Micrognathia, Malrotation of colon, Abnormal ossification involvi... |
ORPHA:1190 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia |
OMIM:226650 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Prominent nose, Aplasia of the epiglottis, High palate... |
OMIM:268305 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Nablus Mask-Like Facial Syndrome |
|
Short neck, Hypoplasia of the maxilla, High palate, Anteverted nares, Depressed nasal bridge, Sho... |
OMIM:608156 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Protein-losing entero... |
OMIM:235510 |
Atkin-Flaitz Syndrome |
|
Anteverted nares, Abnormality of the dentition, Broad nasal tip, Thick vermilion border, Everted ... |
ORPHA:1193 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... |
ORPHA:568 |
Emanuel Syndrome |
|
Broad jaw, Sacral dimple, Congenital hip dislocation, Dental crowding, Intestinal malrotation, De... |
OMIM:609029 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal stippling, Sc... |
OMIM:118650 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Optic atrophy, Paralytic ileus, Facial diplegia, Dysphagia, Facial paralysis |
OMIM:613559 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Prominent nasal bridge, Craniosynostosis, Absent thumb, Carious teeth, Mi... |
ORPHA:96097 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Reduced bone mineral density, Downturned corners of mouth, Genu valgum, Thi... |
ORPHA:2983 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Micrognathia, Microcephaly, Gingival overgrowth, Cleft palate, Ulnar deviation of finger, Short d... |
ORPHA:2013 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Underdeveloped nasal alae, Wide nasal bridge, Downturned corners... |
OMIM:601224 |
Monosomy 18P |
|
Kyphoscoliosis, Micrognathia, Carious teeth, Short neck, Microcephaly, Wide nasal bridge, Cleft p... |
ORPHA:1598 |
Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm... |
OMIM:300244 |
Distal Monosomy 7Q36 |
|
Micrognathia, Short neck, Microcephaly, Non-midline cleft lip, Bulbous nose, Cryptorchidism, Clef... |
ORPHA:1636 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Bowing of the legs, Hypoplastic ilia, Micrognathia, Short neck, Anisospondyly, ... |
ORPHA:1865 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Long philtrum, Short nose, Pro... |
ORPHA:438178 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... |
OMIM:250460 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Sacral dimple, Microcephaly, Narrow mouth, Cryptorchidism, Cleft palate, Thin vermilion border, L... |
OMIM:615502 |
Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... |
OMIM:118400 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Overlapping toe, Cleft palate, High palate, Scoliosis, Malar flattening, Open mouth |
OMIM:620021 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Joint dislocation, Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contrac... |
ORPHA:536471 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Osteoarthritis, Cleft palate, Glossoptosis, Long philtrum, Malar flattening, Abnorm... |
ORPHA:166100 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares... |
OMIM:612394 |
Treacher Collins Syndrome 4 |
|
Microcephaly, Micrognathia, Cleft palate, Choanal stenosis, Malar flattening |
OMIM:618939 |
Holoprosencephaly 9 |
|
Depressed nasal bridge, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla,... |
OMIM:610829 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Short nose, Downturned corners of mouth, Everted lower lip vermilion, Wid... |
OMIM:617865 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Abdominal pain |
ORPHA:449400 |
Microtriplication 11Q24.1 |
|
Joint dislocation, Wide nose, Short neck, Metatarsus adductus, Microcephaly, Limitation of joint ... |
ORPHA:289522 |
Joubert Syndrome 18 |
|
Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphoscoliosis, Cl... |
OMIM:614815 |
Larsen Syndrome |
|
Finger syndactyly, Depressed nasal bridge, Large joint dislocations, Craniosynostosis, Cryptorchi... |
ORPHA:503 |
17Q11.2 Microduplication Syndrome |
|
Abnormal dental enamel morphology, Microcephaly, Thin vermilion border, Bifid nose, Macroorchidis... |
ORPHA:139474 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Overlapping toe, Prominent nasal bridge, Carious teeth, Thick lower lip vermilion, Narrow palate,... |
ORPHA:457365 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Anterior wedging of L1, Lumbar... |
OMIM:253200 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnorm... |
ORPHA:3429 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Relative macrocephaly, Bowing of the long bones, Short femur, Thoracic scoliosis, Joi... |
OMIM:613848 |
Warburg Micro Syndrome 3 |
|
Kyphoscoliosis, Micrognathia, Microcephaly, Flexion contracture, Narrow palate, Ankle clonus, Dow... |
OMIM:614222 |
Rhiny |
|
Short nose, Thin vermilion border, Anteverted nares |
OMIM:180360 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Aganglionic megacolon |
ORPHA:2151 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Distal Deletion 10Q |
|
Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Short metatarsal, High palate, Clinod... |
ORPHA:96148 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Microcephaly, Cryptorchidism, Cleft palate, Orofacial cle... |
OMIM:601349 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Andersen-Tawil Syndrome |
|
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence... |
ORPHA:37553 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Arachnodactyly, Micrognathia, Microcephaly, Bulbous nose, Wide nasal bridge, Cleft palate, Narrow... |
ORPHA:93946 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Micrognathia, Cryptorchidism, Hip dysplasia, Scoliosis, Short nose |
ORPHA:496790 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal synostosis, Aplastic clavic... |
ORPHA:85199 |
Fetal Akinesia Deformation Sequence 2 |
|
Tented upper lip vermilion, Micrognathia, Cryptorchidism, Flexion contracture, Wide nasal bridge,... |
OMIM:618388 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, High palat... |
OMIM:619148 |
Piebald Trait |
|
Aganglionic megacolon |
OMIM:172800 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Micrognathia, Microcephaly, Osteoporosis, Concave nasal ridge, Clinoda... |
ORPHA:73272 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... |
ORPHA:971 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Overlapping toe, Anteverted nares, Micrognathia, Carious teeth, Microcephaly, Underdeveloped nasa... |
OMIM:613026 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, High palate, Abnormal bone os... |
ORPHA:93315 |
Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Anteverte... |
ORPHA:1512 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Dyskeratosis Congenita |
|
Esophageal stenosis, Recurrent fractures, Abnormality of the dentition, Carious teeth, Malabsorpt... |
ORPHA:1775 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi... |
ORPHA:284984 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly |
ORPHA:2266 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:613870 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Broad nasal tip, Carious teeth, Mild microcephaly, Thick vermilion border, Secondary microcephaly... |
ORPHA:363523 |
Miller-Dieker Syndrome |
|
Sacral dimple, Anteverted nares, Abnormal upper lip morphology, Clinodactyly of the 5th finger, S... |
ORPHA:531 |
19P13.3 Microduplication Syndrome |
|
Unilateral cryptorchidism, Kyphoscoliosis, Micrognathia, Microcephaly, Long fingers, Prominent no... |
ORPHA:447980 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia |
OMIM:183300 |
Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Femur fra... |
OMIM:259700 |
Qazi-Markouizos Syndrome |
|
Prominent nasal bridge, Tapered finger, High, narrow palate, Cryptorchidism, Hypoplasia of teeth,... |
ORPHA:3010 |
Peho Syndrome |
|
Tented upper lip vermilion, Tapered finger, Short nose, Open mouth, Retrognathia, Progressive mic... |
OMIM:260565 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... |
OMIM:184100 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Tapered finger, Bilateral cryptorchidism, High, narrow palate, Bulbous nose, 2-3 t... |
ORPHA:485405 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Dental enamel pits |
OMIM:619787 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Anteverted nares, Depressed nasal bridge, Recurrent upper respiratory tract infections, High pala... |
OMIM:614069 |
Oculocerebrorenal Syndrome Of Lowe |
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Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, A... |
ORPHA:534 |
Braddock-Carey Syndrome 2 |
|
Microcephaly, Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Clinodactyly, Retrog... |
OMIM:619981 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Wide nose, Anteverted nares, Narrow mouth, Bulbous nose, Thick lower lip vermilion, Mesiodens, Ma... |
ORPHA:314647 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g... |
OMIM:175100 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Bowing of the long bones, Depressed nasal bridge, Small abnor... |
ORPHA:140 |
20Q11.2 Microduplication Syndrome |
|
Prominent metopic ridge, Tented upper lip vermilion, Sacral dimple, Anteverted nares, Depressed n... |
ORPHA:363659 |
6Q25 Microdeletion Syndrome |
|
Camptodactyly of finger, Rocker bottom foot, Micrognathia, Microcephaly, Wide nasal bridge, Cleft... |
ORPHA:251056 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Osteopenia, Thin upper lip vermilion, Depressed nasal bridge, Joint hypermobility, Long nose, Dow... |
OMIM:618590 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
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Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Symphalangism affecting the ... |
ORPHA:2547 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Clef... |
ORPHA:79113 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvi... |
OMIM:184252 |
Cockayne Syndrome B |
|
Mandibular prognathia, Slender nose, Prominent nasal bridge, Delayed eruption of primary teeth, M... |
OMIM:133540 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Underd... |
ORPHA:894 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia... |
ORPHA:94066 |
Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,... |
OMIM:619636 |
Acrocephalopolydactyly |
|
Genu recurvatum, Short neck, Depressed nasal ridge, Short long bone, Short nose, Brachydactyly |
ORPHA:221054 |
Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos... |
OMIM:208230 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregul... |
ORPHA:289157 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Micrognathia, Microcephaly, Cryptorchidism, Wide nasal bridge, Short lo... |
OMIM:224410 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Micrognathia, Deep philtrum, Downturned corners of mouth, Bifid uvula, Anteverted nares, Depresse... |
ORPHA:404440 |
Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ... |
OMIM:620107 |
Recon Progeroid Syndrome |
|
Joint laxity, Prominence of the premaxilla, Arachnodactyly, Dental crowding, Proximal placement o... |
OMIM:620370 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Microcephaly, Micrognathia, Short... |
OMIM:617802 |
Campomelic Dysplasia |
|
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,... |
OMIM:114290 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Sacral dimple, Anteverted nares, Micrognathi... |
OMIM:247200 |
Toluene Embryopathy |
|
Micrognathia, Tapered finger, Microcephaly, Cryptorchidism, Thin vermilion border, Hypoplasia of ... |
ORPHA:1920 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Congenital Myopathy 22B, Severe Fetal |
|
Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Flexio... |
OMIM:620369 |
Cockayne Syndrome A |
|
Mandibular prognathia, Hip contracture, Slender nose, Delayed eruption of primary teeth, Microcep... |
OMIM:216400 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum |
ORPHA:3214 |
Koolen-De Vries Syndrome |
|
High, narrow palate, Vertebral segmentation defect, Microdontia, Thick nasal alae, Vertebral fusi... |
ORPHA:96169 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Short humerus, Obtuse angle of mandible, Hypoplastic scapulae, Anterio... |
OMIM:309350 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Delayed eruption of primary teeth, Kyphosis, Cryptorchidism, Flexion contr... |
ORPHA:90322 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperostosis, Pulp calcification, Taurodontia, Subperiosteal bone formation, Enamel hypoplasia |
OMIM:211900 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Joint laxity, Exaggerated cupid's bow, Depressed nasal bridge, Microcephaly, Cleft lip, Deep phil... |
OMIM:620098 |
Smith-Kingsmore Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Short proximal phalanx of finger, Wide anterior... |
OMIM:616638 |
Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... |
OMIM:604864 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... |
OMIM:301040 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... |
ORPHA:1307 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures, Coxa vara, Ve... |
OMIM:610968 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... |
ORPHA:79106 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... |
OMIM:271640 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Prominent nasal bridge, Limited elbow movement, Cleft upper lip, Cr... |
OMIM:265050 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Proximal placement of thumb, Micrognathia, Prominent nose, High, narrow pa... |
ORPHA:435638 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia... |
OMIM:616300 |
American Trypanosomiasis |
|
Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Diarrhea, Achalasia |
ORPHA:3386 |
Trisomy 17P |
|
Prominent metopic ridge, Wide nose, Tapered finger, Micrognathia, Short neck, Microcephaly, Promi... |
ORPHA:261290 |
Distal 16P11.2 Microdeletion Syndrome |
|
Chronic constipation, Aganglionic megacolon |
ORPHA:261222 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Bainbridge-Ropers Syndrome |
|
Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge... |
OMIM:615485 |
Vascular Malformation, Primary Intraosseous |
|
Ectopic tooth eruption, Gingival bleeding |
OMIM:606893 |
Zechi-Ceide Syndrome |
|
Wide nose, Sandal gap, Cleft upper lip, Underdeveloped nasal alae, Short metatarsal, Wide nasal b... |
OMIM:612916 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Thin upper lip vermilion, Brachydactyly, Joint stiffness, Anosmia, Genu valgum, Hypoplasia of the... |
ORPHA:1295 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of... |
OMIM:200610 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Short neck, Kyphosis, Orofacial cl... |
ORPHA:77301 |
Seckel Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Craniosynostosis, Micrognathia, Microcephaly, Cone... |
ORPHA:808 |
Martin-Probst Syndrome |
|
Micrognathia, Microcephaly, Cryptorchidism, Thick lower lip vermilion, Dental malocclusion, Wide ... |
OMIM:300519 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... |
OMIM:239300 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Tented upper lip vermilion, Overlapping toe, Anteverted nares, Flexion contr... |
OMIM:619383 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Wide nose, Prominent nasal bridge, Micrognathia, Hypo... |
ORPHA:85201 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Tapered finger, Microcephaly, Flexion contracture, Hyperextensibility at wri... |
ORPHA:544503 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... |
OMIM:609616 |
Micro Syndrome |
|
Anteverted nares, Micrognathia, Microcephaly, Kyphosis, Cryptorchidism, Joint stiffness, Wide nas... |
ORPHA:2510 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Cleft ala nasi, Osteopathia striata, Short metatarsal, Anteriorly pla... |
OMIM:305600 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Short neck, High... |
OMIM:309583 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Microcephaly |
OMIM:272300 |
Haddad Syndrome |
|
Gastroesophageal reflux, Aganglionic megacolon, Abnormal autonomic nervous system physiology |
ORPHA:99803 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Dental crowding, Micrognathia, Short neck, Prominent nose, Anteriorl... |
OMIM:305450 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Microcephaly, Submucous cleft hard ... |
ORPHA:2521 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Depressed nasal bridge, Hypoplasia of the zygomatic bone, Macrocephaly, Malar flattening, Short nose |
ORPHA:2835 |
Gardner Syndrome |
|
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... |
ORPHA:79665 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Anteverted nares, Hyperlordosis, Short neck, Microcephaly, Abnormal sacrum morphology, Wide nasal... |
ORPHA:1797 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis |
OMIM:259730 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Carious teeth, Kyphosis, Joint contracture of the 5th fi... |
ORPHA:1883 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Microcephaly, Carious teeth, Small hand, Shor... |
ORPHA:93324 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Hypoplasia of the maxilla, Short nose, Cleft palate, Clinodactyly, Short distal phalan... |
OMIM:614261 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Cervical kyphosis, Generalized joint laxity, High palate, Abnormality of the cervical spine, Micr... |
ORPHA:2953 |
Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w... |
OMIM:139210 |
Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Broad nasal tip, Micrognathia, Cryptorchidism, Wide nasal bridge, Cleft p... |
OMIM:615524 |
Greenberg Dysplasia |
|
Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy variation in bone mi... |
OMIM:215140 |
Hypophosphatasia, Adult |
|
Arthropathy, Premature loss of permanent teeth, Osteomalacia, Premature loss of primary teeth, Re... |
OMIM:146300 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Thin upper lip vermilion, Overlapping toe, Exaggerated cupid's bow, Intestinal malrotat... |
OMIM:618316 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Malabsorption, Gastroesophageal refl... |
ORPHA:183 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Triphalangeal thumb, Clinodacty... |
ORPHA:794 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... |
OMIM:277320 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postaxial polydactyly, Cario... |
OMIM:617102 |
Renpenning Syndrome |
|
Mandibular prognathia, Decreased testicular size, Macrodontia, Microcephaly, Abnormal thumb morph... |
ORPHA:3242 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Split hand, Cleft palate, High palate, Narrow mouth... |
OMIM:246560 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormal dental enamel morphology, Camptodactyly of finger, Taurodontia, Abnormality of the denti... |
ORPHA:3220 |
Carpenter Syndrome 2 |
|
Short neck, Bilateral cryptorchidism, High, narrow palate, Preaxial polydactyly, Coxa vara, Knee ... |
OMIM:614976 |
Marshall Syndrome |
|
Anteverted nares, Depressed nasal bridge, Abnormality of the dentition, Micrognathia, Hypoplasia ... |
ORPHA:560 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Anteverted nares, Rocker bottom foot, Short neck, Microcephal... |
OMIM:301041 |
Rothmund-Thomson Syndrome Type 2 |
|
Joint dislocation, Osteopenia, Long nose, Patellar hypoplasia, High palate, Microdontia, Short ph... |
ORPHA:221016 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... |
ORPHA:1106 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Hypoplastic ischia, Bowing of the legs, Micrognathia, Gingival overgrowt... |
ORPHA:313855 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Postaxial polydactyly, Micrognat... |
OMIM:617866 |
Prader-Willi Syndrome Due To Translocation |
|
Micrognathia, Short neck, Prominent nose, Downturned corners of mouth, High palate, Clinodactyly ... |
ORPHA:177907 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b... |
ORPHA:1225 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Diarrhea, Hepatic failure, Esophageal varix |
ORPHA:75234 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Microcephaly, High palate, Pr... |
OMIM:300558 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Cryptorchidism, Bulbous... |
OMIM:616788 |
Meckel Syndrome, Type 8 |
|
Microcephaly, Short neck, Cleft upper lip, Depressed nasal ridge, Cleft palate, Polydactyly, Shor... |
OMIM:613885 |
Intellectual Disability-Strabismus Syndrome |
|
Depressed nasal bridge, Rocker bottom foot, Narrow nasal ridge, Abnormality of the dentition, Mic... |
ORPHA:363528 |
Trisomy 8Q |
|
Camptodactyly of finger, Micrognathia, Short neck, Cryptorchidism, Non-midline cleft lip, Bone cy... |
ORPHA:1752 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Micrognathia, Short neck, Multiple joint dislocation, Knee dislocation, Shoulder disl... |
OMIM:245600 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition |
OMIM:216300 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Depressed nasal bridg... |
OMIM:211350 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Wide nose, Sandal gap, Cleft lip, Short metatarsal, Wide nasal bridge, Cle... |
ORPHA:217017 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micrognathia, Short neck, Metaphyseal widening, Limit... |
OMIM:224400 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Short neck, Hem... |
OMIM:213980 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Metaphyseal cupping of proximal phalanges, Depressed nasal ridge, Macrocephaly, Metaphyseal cuppi... |
OMIM:300863 |
Tetrasomy 18P |
|
Microcephaly, Thin vermilion border, Scoliosis, Narrow mouth, Short nose, Long philtrum |
ORPHA:3307 |
Rhombencephalosynapsis |
|
Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Anal... |
ORPHA:59315 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Premature loss of teeth |
OMIM:161000 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Abnormal dental enamel morphology, Microcephaly, Prominent nose, Kyphosis, Joi... |
ORPHA:1005 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morphology, Short me... |
ORPHA:93351 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Prominent nasal bridge, Proximal placement of thumb, Tapered finger, Microg... |
ORPHA:251071 |
Flynn-Aird Syndrome |
|
Joint stiffness, Carious teeth, Kyphosis, Bone cyst, Scoliosis |
ORPHA:2047 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Aganglionic megacolon, Feeding difficulties in infancy, Ileus, Constipation, Vomiting |
OMIM:300352 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Tented upper lip vermilion, Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Craniofacia... |
OMIM:618476 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathia, Microcephaly, Preax... |
OMIM:610536 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... |
OMIM:605282 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Microcephaly, Adducted thumb, Hydrocele testis, Notched primary central incisor, Macrocephaly, Br... |
OMIM:620062 |
Atelis Syndrome 1 |
|
Prominent nose, Carious teeth, Lumbar kyphosis, High palate, Long philtrum |
OMIM:620184 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Relative macrocephaly, Natal tooth, Cranial hyperostosis, Oligodontia, Hypodontia |
OMIM:601345 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Anteverted nares, Persistence of primary teeth, Protruding to... |
OMIM:610253 |
4H Leukodystrophy |
|
Delayed eruption of teeth, Hypodontia, Abnormality of the dentition |
ORPHA:289494 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia, Microcephaly |
OMIM:615328 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Depressed nasal bridge, Cryptorchidism, Cleft pala... |
ORPHA:1812 |
Barrett Esophagus |
|
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux |
OMIM:614266 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... |
ORPHA:2658 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, E... |
OMIM:312870 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Hypoplasia of t... |
ORPHA:2588 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... |
OMIM:609945 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin... |
OMIM:300106 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... |
OMIM:601356 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Broad nasal tip, Wide nasal b... |
OMIM:615716 |
Glass Syndrome |
|
Dental crowding, Anterior tibial bowing, Conical tooth, Micrognathia, Long nose, Oligodontia, Hig... |
OMIM:612313 |
Ppoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97278 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... |
OMIM:225500 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Depressed nasal bridge, Tapered... |
OMIM:618430 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Flat capital femoral epiphysis, Platyspondyly, Genu varum, Genu valgum |
OMIM:608361 |
Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Abnormal palate morphology, Short nose, Bilateral choa... |
ORPHA:1200 |
Congenital Disorder Of Glycosylation, Type Il |
|
Depressed nasal bridge, Short neck, Microcephaly, Kyphosis, Hip dislocation, Wide mouth, Long phi... |
OMIM:608776 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Choanal atresia, Prominent nasal bridge, Cleft upper lip, Micrognathia, Un... |
OMIM:608572 |
Tetraploidy |
|
Microcephaly, Micrognathia, Radial club hand, Cleft palate, Short philtrum, Biparietal narrowing,... |
ORPHA:3305 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Anteverted nares, Ovoid vertebral bodies, Short hallux, ... |
ORPHA:1517 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Supernumerary tooth, Adenomatous colonic polyposis, Esophageal carcinoma, Mul... |
ORPHA:247806 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Thick nasal alae, Micrognathia, Retrognathia, Short nose, Meckel diverticulum |
ORPHA:163961 |
Attrv122I Amyloidosis |
|
Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology |
ORPHA:85451 |
Chopra-Amiel-Gordon Syndrome |
|
Thin upper lip vermilion, Joint hypermobility, Microcephaly, Cleft lip, Pierre-Robin sequence, Fl... |
OMIM:619504 |
Zimmermann-Laband Syndrome 1 |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Mandibular prognathia, Broad ... |
OMIM:135500 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... |
OMIM:271630 |
Achondroplasia |
|
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... |
OMIM:100800 |
Porphyria Variegata |
|
Abdominal pain, Ileus, Constipation, Abnormal autonomic nervous system physiology, Hepatocellular... |
ORPHA:79473 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Wide anterior fontanel, Pyloric stenosis, S... |
ORPHA:457279 |
Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Anteverted nares, Intestinal malrotation, O... |
OMIM:244450 |
Opsismodysplasia |
|
Short metacarpal, Anteverted nares, Depressed nasal bridge, Short neck, Hypoplasia of the odontoi... |
OMIM:258480 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morpho... |
ORPHA:1896 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Chronic diarrhea, Malabsorption |
OMIM:601675 |
3Q29 Microdeletion Syndrome |
|
Dental crowding, Prominent nasal bridge, Tapered finger, Abnormality of the dentition, Microcepha... |
ORPHA:65286 |
Oculomaxillofacial Dysostosis |
|
Brachydactyly, Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormali... |
ORPHA:1794 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Micrognathia, Short neck, Wide anterior fontanel, Microcephaly, Short nose... |
ORPHA:3338 |
Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchi... |
OMIM:602535 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Joint laxity, Persistent open anterior fontanelle, Arachnodactyly, Dental crowding, Narrow mouth,... |
OMIM:615539 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fingers... |
OMIM:617527 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon |
ORPHA:1438 |
Pitt-Hopkins Syndrome |
|
Short neck, Short metatarsal, Finger clinodactyly, Short philtrum, Anteverted nares, Tapered fing... |
ORPHA:2896 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Microcephaly, Anosmia, Epiphyseal stippling, Abnormality of the vertebral... |
OMIM:302950 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Depressed nasal bridge, Joint stiffness, Hypoplastic ilia,... |
ORPHA:1860 |
Fraser Syndrome |
|
Finger syndactyly, Anal stenosis, Toe syndactyly, Dental crowding, Cleft ala nasi, Depressed nasa... |
ORPHA:2052 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Malabsorption |
ORPHA:99811 |
Ollier Disease |
|
Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis, Platyspond... |
ORPHA:296 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Choanal atresia, Cleft lip, Cryptorchidism, Dental malocclusion, Anos... |
OMIM:603457 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's... |
ORPHA:261494 |
Portal Hypertension, Noncirrhotic, 1 |
|
Esophageal varix |
OMIM:617068 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Hypoplastic ilia, Delayed p... |
ORPHA:93296 |
Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... |
ORPHA:1328 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Anteverted nares, Protruding tongue, Short neck, Cryptorchidism, Alveolar ridge overgrowth, Cleft... |
OMIM:612938 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Microretrognathia, Mandibular prognathia, Sacral dimple, Aganglionic megacolon, Tapered finger, M... |
OMIM:613603 |
Opsismodysplasia |
|
Abnormally ossified vertebrae, Depressed nasal bridge, Tapered finger, Joint stiffness, Squared i... |
ORPHA:2746 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Abnormal morphology of ulna, Abnormality of the dentition, Carious teeth, ... |
ORPHA:93 |
Desmosterolosis |
|
Increased bone mineral density, Depressed nasal bridge, Intestinal malrotation, Micrognathia, Met... |
ORPHA:35107 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Intestinal pseudo-obstruction, Short neck, Kyphosis, Thick lower lip v... |
OMIM:309900 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone... |
ORPHA:89936 |
Leukodystrophy, Hypomyelinating, 10 |
|
Arachnodactyly, Anteverted nares, Bulbous nose, Thin vermilion border, Secondary microcephaly, Lo... |
OMIM:616420 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Tented upper lip vermilion, Rocker bottom foot, Microgna... |
ORPHA:521426 |
Genitopalatocardiac Syndrome |
|
Micrognathia, Microcephaly, Kyphosis, Postaxial hand polydactyly, Non-midline cleft lip, Cryptorc... |
ORPHA:2075 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Aganglionic megacolon, Cleft palate |
ORPHA:66629 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Flared metaphysi... |
OMIM:602557 |
Fg Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Diastema, Metopic synostosis, Long philtrum, Short nose |
OMIM:300581 |
Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Short clavicles, Multiple impacted teeth, Type E brachydactyl... |
OMIM:113300 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Wormian bones, Recurrent fractures, Micrognathia, Vertebral compression fracture, Red... |
OMIM:112240 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain |
ORPHA:83469 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Micrognathia, Tapered finger, Microcephaly, Cleft palate, Shor... |
OMIM:181180 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Joint laxity, Genu recurvatum, Kyphosis, Cryptorchidism, Narrow palate, Sh... |
ORPHA:364028 |
Porphyria, Acute Intermittent |
|
Abdominal pain, Diarrhea, Paralytic ileus, Constipation, Vomiting, Hepatocellular carcinoma, Nausea |
OMIM:176000 |
Trisomy 10P |
|
Thumb contracture, Wide cranial sutures, Anteverted nares, Depressed nasal bridge, Micrognathia, ... |
ORPHA:171929 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Abnormal metaphysis morphology, Platyspondyly, Kyphoscoliosis |
ORPHA:93304 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Short ... |
ORPHA:1675 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
Lathosterolosis |
|
Abnormal thoracic spine morphology, Prominent metopic ridge, Toe syndactyly, Anteverted nares, Mi... |
ORPHA:46059 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Sandal gap, Joint hypermobility, Microcephaly, Ca... |
OMIM:619229 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal dental enamel morphology,... |
ORPHA:3253 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia |
OMIM:616901 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Delayed closure of the anterio... |
ORPHA:2962 |
Neuroendocrine Neoplasm Of Appendix |
|
Nausea and vomiting, Abdominal colic, Mechanical ileus, Functional intestinal obstruction, Anorex... |
ORPHA:100079 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Short palm, Toe syndactyly, Short neck, Microcephaly, Cryptorchidism, Platyspondyly, Cone-shaped ... |
OMIM:618958 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro... |
ORPHA:93259 |
Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv... |
ORPHA:210122 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the fibu... |
ORPHA:2256 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Conical too... |
OMIM:305100 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu... |
OMIM:602418 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Malabsorption, Abdominal pain... |
ORPHA:342 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Epis... |
ORPHA:913 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Cleft palate |
ORPHA:85284 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... |
ORPHA:733 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga |
OMIM:271620 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Mandibular prognathia, Cleft upper lip, Microcephaly, Cleft palate, Malar flattening, Spina bifid... |
OMIM:268850 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of... |
OMIM:608728 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Joint laxity, Thin upper lip vermilion, Limited elbow extension and supination, Intestinal malrot... |
ORPHA:401935 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Bowing of the long bones, Radial bowing, Aplasia of the ulna, Micrognathia, High,... |
ORPHA:2879 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, 2-3 toe syndactyly, Downturne... |
OMIM:613443 |
Fetal Akinesia Deformation Sequence |
|
Intestinal hypoplasia, Multiple joint contractures, Depressed nasal bridge, Camptodactyly of fing... |
ORPHA:994 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Rocker bottom foot, Micrognathia, Microcephaly, Calcaneovalgus deform... |
ORPHA:3078 |
Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly, Conical tooth, Carious teeth, Bilateral cleft lip and palate, Anal atresia |
ORPHA:1997 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Overlapping toe, Arachnodactyly, Thoracolumbar scoliosis, Micrognathia, Metatarsus adductus, Shor... |
ORPHA:436003 |
Meconium Ileus |
|
Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
Bamforth-Lazarus Syndrome |
|
Retrognathia, Choanal atresia, Cleft palate |
ORPHA:1226 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Malabsorption, Microcephaly, Underdevelo... |
ORPHA:2315 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Depressed nasal bridge, Camptodactyly of finger, Hyperlordosis, Broad nasa... |
ORPHA:354 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ... |
OMIM:600920 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Pontocerebellar Hypoplasia, Type 10 |
|
Thin upper lip vermilion, Kyphoscoliosis, Short neck, Tapered finger, Microcephaly, Bulbous nose,... |
OMIM:615803 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormalit... |
ORPHA:2753 |
Alg9-Cdg |
|
Villous atrophy, Micrognathia, Short neck, Narrow greater sciatic notch, Abnormal bone ossificati... |
ORPHA:79328 |
Grfoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97261 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Arachnodactyly, Kyphoscoliosis, Micrognathia, Microcephaly, Cleft lip, Partial dup... |
OMIM:618348 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Short neck, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, ... |
ORPHA:251014 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Crumpled long bones, Wide cranial sutures, Protrusio acetabuli, Femoral retroversion,... |
OMIM:610682 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Dental crowding, Anteverted nares, Depressed nasal bridge, Micrognathia, Underdeveloped nasal ala... |
OMIM:619005 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera... |
OMIM:307800 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Syndactyly, Microcephaly, Clinodactyly, Short nose |
OMIM:618087 |
Desmosterolosis |
|
Relative macrocephaly, Hypoplastic nasal bridge, Anteverted nares, Micrognathia, Microcephaly, Ge... |
OMIM:602398 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Prominent nasal bridge, Micrognathia, Microcephaly, Broad nasal tip, Wide nasal bridge, Progressi... |
OMIM:300749 |
Lathosterolosis |
|
Toe syndactyly, Anteverted nares, Micrognathia, Lumbosacral meningocele, Microcephaly, Postaxial ... |
OMIM:607330 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Convex nas... |
ORPHA:783 |
Tooth Agenesis, Selective, 3 |
|
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia |
OMIM:604625 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Increased bone mineral density, Depressed nasal bridge, Cortical subpe... |
ORPHA:94089 |
Lissencephaly Due To Tuba1A Mutation |
|
Aganglionic megacolon, Optic nerve hypoplasia |
ORPHA:171680 |
Anti-Glomerular Basement Membrane Disease |
|
Arthritis, Persistence of primary teeth |
ORPHA:375 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognathia, Flat ca... |
OMIM:147891 |
Cornelia De Lange Syndrome 1 |
|
Proximal placement of thumb, Micrognathia, Short neck, High, narrow palate, Downturned corners of... |
OMIM:122470 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Hypopla... |
OMIM:615349 |
16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ... |
ORPHA:261211 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Short ne... |
ORPHA:2021 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... |
OMIM:271650 |
Restrictive Dermopathy 1 |
|
Natal tooth, Depressed nasal bridge, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Narrow nas... |
OMIM:275210 |
Fetal Valproate Spectrum Disorder |
|
Narrow mouth, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Long phi... |
ORPHA:1906 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Hypoplasia of the odontoi... |
ORPHA:239 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97283 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Abnormal nasal morpholo... |
ORPHA:245 |
Monosomy 9P |
|
Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Abnormality of the dentiti... |
ORPHA:261112 |
Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micrognathia, Short neck, Tracheobronchomalacia, Short phalanx of finger, Broa... |
ORPHA:56304 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Multiple joint dislocation, Gene... |
ORPHA:93360 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Cleft palate, Slender long bone, Decreased calvarial ossification... |
OMIM:618265 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Tibial... |
OMIM:304120 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee... |
OMIM:151050 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Long nose, Partial duplication of the distal phalanx of the 3rd finger... |
OMIM:101400 |
Mucopolysaccharidosis, Type X |
|
Hyperlordosis, Diastema, Open bite, Wide nasal bridge, Genu valgum, Hip dysplasia, Posterior scal... |
OMIM:619698 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Micrognathia, 2-3 toe cutaneous syndactyly, Short philtrum, Clinodactyly of the 5th finger, Antev... |
OMIM:618454 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Anteriorly placed anus, Syndactyly, Mesoaxial foot polydactyly, Anteverted nares, ... |
OMIM:146510 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Anteverted nares, Depressed nasal bridge, Micrognathia, Cutaneous syndactyly, Ma... |
OMIM:617822 |
Sanjad-Sakati Syndrome |
|
Intestinal obstruction |
ORPHA:2323 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Sacral dimple, Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Primary microcephaly... |
OMIM:618828 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Choanal atresia, Prominent nasal bridge, Short neck, Cleft palate, High palate, Scoliosis, Macroc... |
ORPHA:52055 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Prominent nasal bridge, Microcephaly, Carious teeth, Downturned corners of... |
ORPHA:1110 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy... |
ORPHA:157965 |
Diaphanospondylodysostosis |
|
Short neck, Cleft palate, Narrow pelvis bone, Absent or minimally ossified vertebral bodies, Abno... |
ORPHA:66637 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Congenital hip dislocation, Anteverted nares, Delayed closure of the anterior fontanelle, Broad n... |
ORPHA:357074 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow fl... |
OMIM:259450 |
Omodysplasia 1 |
|
Micrognathia, Short neck, Limited elbow flexion, Short tibia, Increased fibular diameter, Depress... |
OMIM:258315 |
Waardenburg Syndrome, Type 3 |
|
Aganglionic megacolon |
OMIM:148820 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pierre-Robin sequence, Cleft palate, Joint... |
OMIM:602196 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Anteverted nares, Depressed na... |
ORPHA:1465 |
Cog1-Cdg |
|
Osteopenia, Thin upper lip vermilion, Irregularity of vertebral bodies, Kyphoscoliosis, Coxa valg... |
ORPHA:263508 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Micrognathia, Short neck, Narrow palate, Femoral bowing, Macroglo... |
OMIM:617022 |
Down Syndrome |
|
Joint laxity, Sandal gap, Aganglionic megacolon, Depressed nasal bridge, Protruding tongue, Abnor... |
ORPHA:870 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Choanal atresia, Lip pit, Micrognath... |
ORPHA:1300 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Thin upper lip vermilion, Depressed nasal bridge, Joint hypermobility, Prominent nose, Carious te... |
OMIM:620191 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Conical tooth, C... |
OMIM:263750 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97280 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Prominent metopic ridge, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Mi... |
ORPHA:314655 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Downturned corners of mouth, Period... |
ORPHA:955 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose, Microcephaly, Thick vermilion border, Long philtrum |
ORPHA:833 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... |
OMIM:134780 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Short neck, Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, Shor... |
ORPHA:798 |
Peho Syndrome |
|
Anteverted nares, Tapered finger, Microcephaly, Short nose, Flexion contracture, Gingival overgro... |
ORPHA:2836 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Tracheobroncho... |
OMIM:613458 |
Castleman Disease |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Abdominal... |
ORPHA:160 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Joint dislocation, Osteopenia, Genu recurvatum, Micrognathia, Flexion contracture, Bifid uvula, D... |
OMIM:130070 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Esophageal stricture, Hypodontia, Enamel hypoplasia |
OMIM:616029 |
Sweeney-Cox Syndrome |
|
Micrognathia, Bilateral cryptorchidism, High palate, Short philtrum, 2-5 toe syndactyly, Median c... |
OMIM:617746 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Cleft ala nasi, Dental crow... |
OMIM:219000 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Cleft upper lip, Short neck, Cleft palate, Clinodactyly o... |
OMIM:244600 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Syndactyly, Enamel hypoplasia, Pyloric stenosis |
OMIM:226700 |
Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology |
OMIM:269630 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Hypoperistalsis, Abdominal pain,... |
OMIM:611376 |
15Q14 Microdeletion Syndrome |
|
Prominent nasal bridge, Abnormality of the dentition, Microcephaly, Kyphosis, Cleft palate, Short... |
ORPHA:261190 |
Hypomandibular Faciocranial Dysostosis |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft palate, Choanal steno... |
ORPHA:1790 |
Distal Duplication 17Q |
|
Hallux valgus, Thin upper lip vermilion, Joint laxity, Overlapping toe, Arachnodactyly, Depressed... |
ORPHA:3379 |
Hemifacial Microsomia With Radial Defects |
|
Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Triphalangeal thumb,... |
OMIM:141400 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Depressed nasa... |
OMIM:300990 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Wolman Disease |
|
Nausea and vomiting, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea, Hepatic f... |
ORPHA:75233 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ... |
ORPHA:1071 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Hip dislocation, Oligodontia, Hypodontia |
OMIM:614381 |
Mosaic Trisomy 8 |
|
Wide nose, Anteverted nares, Camptodactyly of finger, Micrognathia, Short neck, Broad nasal tip, ... |
ORPHA:96061 |
Frontometaphyseal Dysplasia |
|
Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Oligodontia, Spina ... |
ORPHA:1826 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Oral-pharyngeal dysphagia, Optic atrophy, Paralytic ileus, Facial diplegia, Gastrostomy tube feed... |
ORPHA:254930 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Short neck, Clinodactyly of the 5th finger,... |
ORPHA:264450 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Short philtrum, Clinodactyly of the 5th finger, Bifid uvula, Median cleft ... |
ORPHA:1449 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Aganglionic megacolon, Abdominal pain, Ileus, Constipation, Microcolon |
ORPHA:163746 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Dental crowding, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Broad hallux, ... |
OMIM:301044 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth |
ORPHA:248 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Kyphoscoliosis, Coxa valga, ... |
OMIM:617425 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Advanced eruption of teeth, High palate, Mandibular prognathia |
OMIM:262190 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Choanal atresia, Midnasal sten... |
ORPHA:280200 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Chronic diarrhea, Villous atrophy, Ileus |
OMIM:304790 |
Monosomy 22Q13.3 |
|
Sacral dimple, Dental crowding, Bulbous nose, Dental malocclusion, Wide nasal bridge, Macrocephal... |
ORPHA:48652 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Persistence of primary teeth, Hiatus hernia, Recurrent upper respiratory tract i... |
OMIM:619769 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic nasal bridge, Hypoplastic scapulae, Hypoplast... |
OMIM:200600 |
Microcephaly-Micromelia Syndrome |
|
Wide nose, Craniosynostosis, Absent thumb, Absent radius, Micrognathia, Short neck, Humeroradial ... |
OMIM:251230 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Micrognathia, Flexion contracture, Oligodontia, High palate, Short philtrum, Long philtrum, Depre... |
OMIM:309590 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Depressed nasal bridge, Rocker bottom foot, Tapered finger, Narrow mout... |
OMIM:601353 |
Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Intestinal malrotation, Broad nasal tip, Wide anterior fontanel, Short st... |
OMIM:222448 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Intestinal obstruction, Chronic diarrhea |
OMIM:600802 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Anteverted nares, Depressed nasal bridge, Malabsorption, Micrognathia, Protruding tong... |
OMIM:242860 |
Cerebrooculonasal Syndrome |
|
Anteverted nares, Prominent nasal bridge, Postaxial polydactyly, Craniosynostosis, Proboscis, Pos... |
OMIM:605627 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Overlapping toe, Anteverted nares, Craniosynostosis, Depressed nasal bridge, Choanal... |
OMIM:123790 |
Poikiloderma With Neutropenia |
|
Joint laxity, Depressed nasal bridge, Micrognathia, Carious teeth, Underdeveloped nasal alae, Joi... |
OMIM:604173 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Hypophosphatemic rickets, Genu varum |
OMIM:613312 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Short neck, Cleft upper lip, Hemivertebrae, Cleft palate, Wide mouth, Vertebral segmen... |
ORPHA:1394 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Short neck, Upper limb peromelia, Hypoplasia of the maxilla, Downturned co... |
ORPHA:1299 |
Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula... |
OMIM:252600 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Van Esch-O'Driscoll Syndrome |
|
Sacral dimple, Depressed nasal bridge, Microcephaly, Esophageal atresia, Spina bifida occulta, Tr... |
OMIM:301030 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose, Arachnodactyly, Delayed cranial suture closure, Micrognathia |
ORPHA:1129 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Sacral dimple, Prominent nasal bridge, Micrognathia, Cario... |
OMIM:223370 |
Spondylocamptodactyly Syndrome |
|
Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Delayed closure of the anterio... |
ORPHA:2834 |
Triploidy |
|
Finger syndactyly, Intestinal malrotation, Micrognathia, Short neck, Cryptorchidism, Non-midline ... |
ORPHA:3376 |
Al-Raqad Syndrome |
|
Joint laxity, Thin upper lip vermilion, Sandal gap, Microcephaly, Narrow mouth, Short nose, Brach... |
OMIM:616459 |
Noonan Syndrome 1 |
|
Kyphoscoliosis, Micrognathia, Short neck, High, narrow palate, Cryptorchidism, Dental malocclusio... |
OMIM:163950 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Choanal atresia, Micrognathia, Metaphyseal... |
OMIM:156400 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Increased bone mineral densi... |
ORPHA:79444 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Tented upper lip vermilion, Broad hallux, Anteverted nares, Depressed nasal bridge, Microcephaly,... |
OMIM:614105 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Cutane... |
OMIM:178110 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Cleft palate, Abnormal shoulder morphology, Ectopic anus,... |
ORPHA:2345 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Concave nasal ridge, Short philtrum, Cleft palate |
OMIM:617337 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
Doors Syndrome |
|
Short lingual frenulum, Abnormal finger morphology, Hemivertebrae, Downturned corners of mouth, W... |
ORPHA:79500 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Anterior open-bite malocclusion |
ORPHA:83601 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Craniosynostosis... |
OMIM:614732 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micrognathia, Short neck, Microcephaly, De... |
OMIM:616038 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Wide nose, Protruding tongue, Micrognathia, Short neck, Short nose, Progressive microcephaly, Thi... |
OMIM:608779 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly... |
OMIM:165590 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Microcephaly, Broad nasal tip, ... |
OMIM:614207 |
Opitz Gbbb Syndrome |
|
Natal tooth, Prominent metopic ridge, Anteverted nares, Craniosynostosis, Micrognathia, Microceph... |
ORPHA:2745 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Proximal placement of thumb, Micrognathia, Limited elbow movement, Short neck, Downturned corners... |
OMIM:610759 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Disc-like vertebral bodies, Ovoid vertebral bodies, Dumbbell-shaped long bone, Hyp... |
OMIM:151210 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micrognathia, Short neck, Prominent nose, Lo... |
ORPHA:2636 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Depressed nasal bridge, Micrognathia, Hemivertebrae, Cleft palate, Anal atresia |
OMIM:220210 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... |
OMIM:612847 |
Williams Syndrome |
|
Osteopenia, Micrognathia, Rectal prolapse, Abnormal form of the vertebral bodies, Vertebral segme... |
ORPHA:904 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Anteverted nares, Camptodactyly of fi... |
ORPHA:2311 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Esophageal stricture, Malnutrition, Constipation, Dysphagia, ... |
OMIM:226600 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Anteverted nares, Microcephaly, Hypoplasia of teeth, Short nose, Retrognathia |
OMIM:234050 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip... |
OMIM:618395 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Dental crowding, Joint hypermobility, Micrognathia, Short neck, Kyphosis, Crypt... |
OMIM:130720 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Dental crowding, Acroosteolysis of distal phalanges (feet), Micrognathia, Flexion con... |
OMIM:248370 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Lumbar hyperlordosis, Camptodactyly of finger, Fifth finger distal phalanx clinodacty... |
ORPHA:2839 |
Johnson Neuroectodermal Syndrome |
|
Choanal atresia, Microcephaly, Carious teeth, Preaxial hand polydactyly, Bulbous nose, Anosmia, C... |
ORPHA:2316 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Oligodontia, Hypodontia |
ORPHA:447896 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Short neck, Microcephaly, Cryp... |
OMIM:257300 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormality of bone mineral d... |
ORPHA:861 |
Carey-Fineman-Ziter Syndrome 1 |
|
Anteverted nares, Depressed nasal bridge, Tapered finger, Micrognathia, Trismus, Spinal rigidity,... |
OMIM:254940 |
Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depress... |
ORPHA:93258 |
Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Osteopenia, Short metacarpal, Abnormal trabecular bone morphology, Abn... |
ORPHA:221008 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Micrognat... |
ORPHA:109 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Median cleft lip, Sandal gap, Bilateral cleft lip, Postaxial pol... |
OMIM:612651 |
Hypophosphatasia, Infantile |
|
Craniosynostosis, Abnormality of the dentition, Bowing of the legs, Vertebral clefting, Increased... |
OMIM:241500 |
22Q11.2 Duplication Syndrome |
|
Wide nose, Microcephaly, Micrognathia, Depressed nasal ridge, Cleft palate, Scoliosis, Smooth phi... |
ORPHA:1727 |
Kenny-Caffey Syndrome, Type 1 |
|
Delayed closure of the anterior fontanelle, Carious teeth, Small hand, Short foot, Slender long b... |
OMIM:244460 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Iliac crest serration, Proxi... |
ORPHA:168549 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Anteverted nares, Depressed nas... |
OMIM:612530 |
Cockayne Syndrome |
|
Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, Kyphosis, Cryptorch... |
ORPHA:191 |
Zttk Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Downturned corners of mouth, High ... |
OMIM:617140 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Micrognathia, Cleft upper lip, Cleft palate, Azoospermia, Abnormality of the vertebral column |
OMIM:601076 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Choanal stenosi... |
ORPHA:95699 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:2238 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Sandal gap, Anteverted nares, Depressed nasal bridge, Microcephaly, Underdevel... |
OMIM:616835 |
Mend Syndrome |
|
Sacral dimple, Overlapping toe, Broad hallux, Prominent nasal bridge, Asymmetry of the mouth, Mic... |
ORPHA:401973 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Convex nasal ridge, Abnormal fingertip morphology, Abnormality of the dentition, Micrognathia, Os... |
ORPHA:90154 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Tapered finger, Micro... |
ORPHA:521445 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Genu valgum |
OMIM:184095 |
Menke-Hennekam Syndrome 1 |
|
Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, Cutaneous syndactyly of ... |
OMIM:618332 |
Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Intestinal malrotation, Wide anterior fontanel, Macrocephaly, Short nose |
ORPHA:2143 |
Nicolaides-Baraitser Syndrome |
|
Enlarged joints, Short lingual frenulum, High, narrow palate, Short metatarsal, Prominent interph... |
OMIM:601358 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Thanatophoric Dysplasia |
|
Depressed nasal bridge, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hy... |
ORPHA:2655 |
Fetal Hydantoin Syndrome |
|
Microcephaly, Cryptorchidism, Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip ... |
ORPHA:1912 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Short philtrum, Joint contracture of the 5th finger, Clinodactyly of the 5th finger, ... |
ORPHA:363611 |
Cousin Syndrome |
|
Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... |
OMIM:260660 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared metaphysis, Co... |
OMIM:602111 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Mandibular prognathia, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prom... |
OMIM:300912 |
Camurati-Engelmann Disease |
|
Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Genu ... |
OMIM:131300 |
Bruck Syndrome |
|
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... |
ORPHA:2771 |
Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
Mosaic Trisomy 1 |
|
Thoracic scoliosis, Orofacial cleft, Finger clinodactyly, Absent distal interphalangeal creases, ... |
ORPHA:1692 |
C Syndrome |
|
Joint dislocation, Micrognathia, Short neck, High palate, Biparietal narrowing, Clinodactyly of t... |
ORPHA:1308 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, Micrognathia... |
ORPHA:1974 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Down-sloping shoulde... |
OMIM:109400 |
Mucopolysaccharidosis, Type Vii |
|
Short neck, Flexion contracture, Narrow greater sciatic notch, Widely spaced teeth, Anterior beak... |
OMIM:253220 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal atresia, Anal stenosis, Aganglionic megacolon, Cleft palate |
OMIM:614749 |
Shigellosis |
|
Anorexia, Abdominal pain, Intestinal perforation, Peritonitis, Ulcerative colitis, Bloody diarrhe... |
ORPHA:810 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical... |
OMIM:150250 |
Retinitis Pigmentosa 89 |
|
Esophageal varix |
OMIM:618955 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
High, narrow palate, Ileus, High palate |
OMIM:620156 |
Central Hypoventilation Syndrome, Congenital, 1 |
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Aganglionic megacolon, Feeding difficulties, Chronic constipation, Abnormal autonomic nervous sys... |
OMIM:209880 |
19P13.13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Sandal gap, Anteverted nares, Depressed nasal bridge, Long fingers, Sho... |
ORPHA:357001 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
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Thin bony cortex, Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormian bones, Short 4th meta... |
OMIM:619638 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Anteverted nares, Depressed nasal bridge, Micrognathia, Short nose, Cleft palate, ... |
OMIM:614080 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Metaphyseal widening, Progressive alveolar ridge hypertropy, Anteverted... |
OMIM:252500 |
Cartilage-Hair Hypoplasia |
|
Anal stenosis, Aganglionic megacolon, Malabsorption, Esophageal atresia, Constipation |
OMIM:250250 |
Frontorhiny |
|
Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sin... |
ORPHA:391474 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
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Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tapered finger, Thick low... |
OMIM:619854 |
Arthrogryposis And Ectodermal Dysplasia |
|
Abnormal dental enamel morphology, Kyphoscoliosis, Cleft upper lip, Microcephaly, Orofacial cleft... |
OMIM:601701 |
Brachyolmia, Maroteaux Type |
|
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:93302 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
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Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Vomiting, Constipation |
ORPHA:32960 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Proximal placement of thumb, Micrognathia, Hypoplasia of the maxilla, Lim... |
OMIM:261540 |
Spondylometaphyseal Dysplasia, Axial |
|
Proximal femoral metaphyseal irregularity, Coxa vara, Platyspondyly, Narrow greater sciatic notch... |
OMIM:602271 |
Loeys-Dietz Syndrome 3 |
|
Joint laxity, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Cr... |
OMIM:613795 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced eruption of teeth,... |
OMIM:615873 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Limb joint contracture, Tapered finger, Microcephaly, Flexion contract... |
OMIM:301072 |
Cardiofacioneurodevelopmental Syndrome |
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Micrognathia, Microcephaly, Cleft lip, Kyphosis, Cryptorchidism, Cleft palate, Camptodactyly, Cli... |
OMIM:619123 |
Cardiofaciocutaneous Syndrome |
|
Anteverted nares, Abnormal morphology of ulna, Depressed nasal bridge, Short neck, Cryptorchidism... |
ORPHA:1340 |
Arterial Tortuosity Syndrome |
|
Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular necrosis of the capit... |
ORPHA:3342 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Micrognathia... |
OMIM:258860 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Clinodactyly of the 5th finger, Tapered ... |
OMIM:609638 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Short neck, Irregular vertebral endplates, Posterior scalloping of vertebral bodies, Long fibula,... |
OMIM:610442 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Decreased testicular size, Stenosis of the medullary cavity of the long bones, Persistence of pri... |
ORPHA:93325 |
Temtamy Syndrome |
|
Dental crowding, Micrognathia, Hip dislocation, Hypoplasia of teeth, Short 2nd toe, Long philtrum... |
OMIM:218340 |
Diabetic Embryopathy |
|
Microcephaly, Micrognathia, Cryptorchidism, Abnormal sacrum morphology, Cleft palate, Vertebral s... |
ORPHA:1926 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Abnormality of dental color, Recurrent fractures, Kyphoscoliosis, Abnormal toe morpho... |
OMIM:163200 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Hypoplasia of the premaxilla, Micr... |
OMIM:610828 |
Recombinant 8 Syndrome |
|
Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Cleft upper lip, Abnormality o... |
ORPHA:96167 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypo... |
OMIM:230650 |
Say-Barber-Miller Syndrome |
|
Thoracic kyphoscoliosis, Prominent nasal bridge, Craniosynostosis, Micrognathia, Carious teeth, M... |
ORPHA:3132 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Craniosynostosis, Abnormality of the dentition, Short neck, Microceph... |
ORPHA:251038 |
Piebaldism |
|
Aganglionic megacolon |
ORPHA:2884 |
Distal Deletion 9P |
|
Abnormality of the dentition, Short neck, High, narrow palate, Wide nasal bridge, Cleft palate, S... |
ORPHA:1642 |
Ane Syndrome |
|
Multiple joint contractures, Kyphoscoliosis, Microcephaly, Carious teeth, Hypodontia, Premature l... |
ORPHA:157954 |
Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Increased bone mineral densi... |
ORPHA:79443 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Hemivertebrae, Flex... |
OMIM:224690 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Joi... |
OMIM:182250 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... |
ORPHA:464 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Micrognathia, Short philtrum, Widely spaced teeth... |
OMIM:619841 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Short iliac bones, Abnormal ili... |
ORPHA:3003 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Allergic rhinitis, Carious teeth, Steatorrhea, Calvarial hyperostosis |
OMIM:612714 |
Mandibuloacral Dysplasia |
|
Dental crowding, Narrow nose, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, Cont... |
ORPHA:2457 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Anteverted nares, Microcephaly, Kyphosis, 2-3 toe syndactyly, Cleft p... |
OMIM:616449 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Micrognathia, Pyloric stenosis, Cleft palate, Hand polydactyly, Scoliosis, Macr... |
ORPHA:261197 |
3Mc Syndrome 1 |
|
Sacral dimple, Dental crowding, Single interphalangeal crease of fifth finger, Cleft upper lip, M... |
OMIM:257920 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Micrognathia, Cleft lip, Kyphosis, Cryptorchidism, Spin... |
ORPHA:1724 |
Spondylo-Ocular Syndrome |
|
Abnormal intervertebral disk morphology, Short neck, Osteoporosis, Joint hyperflexibility, Platys... |
ORPHA:85194 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Anteriorly placed anus, Oligodontia, Mi... |
OMIM:612289 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Dumbbell-shaped long bone, Micrognathia, Metaphyseal widening,... |
ORPHA:440354 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Cleft soft palate, Microcephaly, Short neck, Micrognathia, Cryptorchidism, Wide... |
ORPHA:2282 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Meier-Gorlin Syndrome 7 |
|
Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, High palate, Dislocate... |
OMIM:617063 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... |
OMIM:606895 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Microcephaly, Protruding tongue, Gingival overgrowth, Wide nasal bridge, ... |
OMIM:619179 |
Ohdo Syndrome, Sbbys Variant |
|
Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Microcephaly, Cryptorchidism, Bul... |
OMIM:603736 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Short philtrum, Finger sy... |
ORPHA:464738 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Hypoplastic scapulae, Median cleft lip, Intestinal malrotation, Hamartoma of tongue,... |
OMIM:269860 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Abnormal esophagus morpholo... |
ORPHA:1018 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Carious teeth, Pyloric stenosis, Bilateral cryptorchidism, Eclabion, Meckel divertic... |
OMIM:616395 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Cleft lip, Osteoporosis, Anosmia, Cleft palate, Bifid nose, Hyposmia, Clinodactyly, Decreased tes... |
OMIM:614838 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Lumbar hyperlordosis, Depressed nasal bridge, Ovoid vertebral bodies, Short neck, Bil... |
OMIM:242900 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis, Abnormal epiphysis morphology, Platyspondyly |
ORPHA:93283 |
Frontofacionasal Dysplasia |
|
Cleft upper lip, Underdeveloped nasal alae, Orofacial cleft, Midline defect of the nose, Bifid no... |
OMIM:229400 |
Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Bowing of the long bones, Odontogenic keratocysts of the j... |
ORPHA:199276 |
Orofaciodigital Syndrome V |
|
Aganglionic megacolon, Hamartoma of tongue, Optic disc coloboma, Cleft palate, Feeding difficulti... |
OMIM:174300 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Abnormality of the dentition, Tapered finger, Microcephaly, Thick lower lip vermilio... |
ORPHA:261652 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Absent ossification of calvaria, Mult... |
OMIM:166210 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Depressed nasal bridge, Craniosynostosis, Micrognathia, Microcephaly, Bulbous nose, Narrow mouth,... |
OMIM:614114 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose, Primary microcephaly |
OMIM:245570 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
Prolidase Deficiency |
|
Depressed nasal bridge, Micrognathia, Concave nasal ridge, High palate, Short nose |
OMIM:170100 |
Fryns Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Cleft palate, Ectopic anus, Gastroesophageal reflu... |
ORPHA:2059 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short nose, Microcephaly, Sandal gap, Long philtrum |
OMIM:300887 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
Neu-Laxova Syndrome |
|
Osteopenia, Abnormality of the philtrum, Osteomalacia, Micrognathia, Microcephaly, Trismus, Submu... |
ORPHA:2671 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodactyly of the 5th ... |
ORPHA:158687 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Diarrhea, Constipation, High palate |
OMIM:162300 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Limit... |
OMIM:619598 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Aganglionic megacolon, Malabsorption |
ORPHA:935 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp... |
OMIM:271600 |
5Q14.3 Microdeletion Syndrome |
|
Toe syndactyly, Anteverted nares, Short philtrum, Open mouth, Short nose |
ORPHA:228384 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Congenital hip dislocation, Short neck, High, narrow palate, Vertebral seg... |
ORPHA:373 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Dental crowding, Short neck, Rectal prolapse, Short metatarsal, High palate, Short metacarpal, An... |
OMIM:617157 |
Anophthalmia Plus Syndrome |
|
Choanal atresia, Abnormal nasal morphology, Non-midline cleft lip, Cleft palate, Bilateral cleft ... |
ORPHA:1104 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Catel-Manzke Syndrome |
|
Joint dislocation, Micrognathia, Short neck, Glossoptosis, High palate, Clinodactyly of the 5th f... |
OMIM:616145 |
Khan-Khan-Katsanis Syndrome |
|
Sacral dimple, Tented upper lip vermilion, Postaxial polydactyly, Micrognathia, Delayed closure o... |
OMIM:618460 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Microcephaly, Broad nasal... |
ORPHA:438216 |
Diamond-Blackfan Anemia 6 |
|
Cleft upper lip, Micrognathia, Short thumb, Cleft palate, Triphalangeal thumb, Tracheomalacia, Re... |
OMIM:612561 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... |
OMIM:218600 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Limitation of join... |
OMIM:313400 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Poor appetite, Abdominal pain, Esophageal web, Dysphagia, Glossitis |
ORPHA:54028 |
Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Multiple pterygia, Micrognathia, Orofacial cleft, Symphalangism affecting the phalanges of the ha... |
ORPHA:2990 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Short nose, B... |
OMIM:618618 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia... |
ORPHA:989 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Exaggerated cupid's bow, Micrognathia, Short neck, Underdeveloped n... |
OMIM:614230 |
Shwachman-Diamond Syndrome |
|
Delayed eruption of teeth, Osteopenia, Sinusitis, Osteomyelitis, Carious teeth, Metaphyseal chond... |
ORPHA:811 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Short neck, Hypoplas... |
ORPHA:3144 |
Deeah Syndrome |
|
Prominent nasal tip, Cervical hemivertebrae, Malabsorption, Short neck, Cryptorchidism, Narrow pa... |
OMIM:619004 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Short neck, Bilateral cryptorchidism, Flexion contractur... |
OMIM:263650 |
Bronchogenic Cyst |
|
Abdominal pain, Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology |
ORPHA:2357 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Intestinal malrotation, Craniosynostosis, Microcepha... |
ORPHA:457193 |
Usher Syndrome, Type Ig |
|
Hypoplasia of the nasal bone |
OMIM:606943 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex... |
ORPHA:3103 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Capitat... |
ORPHA:289 |
Cerebrocostomandibular Syndrome |
|
Short humerus, Anal stenosis, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft s... |
OMIM:117650 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Down-sloping shoulders, Micrognathia, Short neck, Long fingers, 2-3 toe cutaneous syndactyly, Lon... |
OMIM:301091 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Short iliac bones, Metaphyseal scler... |
OMIM:607944 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Increased density of long bones, Short neck, Tibial bowing, Choa... |
OMIM:269150 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Prominent metopic ridge, Depressed nasal bridge, Unilateral cryptorchidism, Micrognathia, Microce... |
OMIM:613457 |
Pachyonychia Congenita |
|
Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia |
ORPHA:2309 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Pyloric stenosis, Ileus, Feeding difficulties, Constipation, Dysphagia |
OMIM:613327 |
Williams-Beuren Syndrome |
|
Osteopenia, Rectal prolapse, Flexion contracture, Clinodactyly of the 5th finger, Microdontia, Jo... |
OMIM:194050 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod... |
OMIM:608670 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Foot joint contracture, Delayed eruption of primary teeth, Abnormality of ... |
ORPHA:90321 |
Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Coxa valga, Joint stiffness, Gingival overgrowth, Hypoplastic vertebral bodies... |
OMIM:230600 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Microcep... |
OMIM:258865 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Limitation of joint mobility, Coxa vara, Short palm |
ORPHA:168555 |
Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Platyspondyly, Scol... |
OMIM:619131 |
Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Ankylosis, Abnormal... |
ORPHA:659 |
Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, High palate, Short nose |
OMIM:618774 |
Coffin-Siris Syndrome 1 |
|
Conical tooth, Prominent interphalangeal joints, Short philtrum, High palate, Clinodactyly of the... |
OMIM:135900 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Alpha-Mannosidosis, Infantile Form |
|
Mandibular prognathia, Osteopenia, Joint laxity, Depressed nasal bridge, Craniosynostosis, Short ... |
ORPHA:309282 |
Ayme-Gripp Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Mandibular prognathia, Depressed nasal bridge, Delayed... |
OMIM:601088 |
Congenital Disorder Of Glycosylation, Type 2V |
|
Thin upper lip vermilion, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Cleft palat... |
OMIM:619493 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose, Micrognathia |
OMIM:256600 |
Hydrolethalus Syndrome 2 |
|
Micrognathia, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Preaxial foot... |
OMIM:614120 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Non-midline cle... |
ORPHA:246 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Flexion co... |
OMIM:619124 |
Benign Schwannoma |
|
Intestinal polyposis, Facial palsy, Abnormality of the twelfth cranial nerve, Vestibular schwanno... |
ORPHA:252164 |
Prolidase Deficiency |
|
Arachnodactyly, Depressed nasal bridge, Micrognathia, Carious teeth, Depressed nasal ridge, Genu ... |
ORPHA:742 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t... |
ORPHA:2750 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Depressed nasal bridge, Micrognathia, Short neck, Long fingers, Narrow mouth, Microcephaly, Cleft... |
OMIM:156610 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Foot oligodactyly, Triphalangeal thumb, Abnormalit... |
OMIM:154400 |
Noonan Syndrome 7 |
|
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Dysphagia, Impaired orophar... |
OMIM:613706 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Microcephaly, Cleft lip, Prominen... |
OMIM:301022 |
Jaberi-Elahi Syndrome |
|
Depressed nasal bridge, Joint hypermobility, Microcephaly, Joint stiffness, Kyphosis, Scoliosis, ... |
OMIM:617988 |
Joubert Syndrome With Renal Defect |
|
Aganglionic megacolon, Cleft palate, Feeding difficulties |
ORPHA:220497 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Wide nose, Joint stiffness, Coxa valga, Metatarsus adductus, Avascular ne... |
ORPHA:2557 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cryptorchidism, Submucous cleft hard palate, Single naris, Anosmia, Cleft palate, Absent nares, H... |
ORPHA:2250 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Flexion contracture, Wide nasal bridge, Thin vermilion ... |
OMIM:610015 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Malabsorption, Ileus, Secretory diarrhea, Colitis, Abnormal intestine morphology, Vomi... |
ORPHA:37042 |
Developmental And Epileptic Encephalopathy 75 |
|
Anteverted nares, Wide nasal bridge, Short philtrum, Secondary microcephaly, Open mouth, Short nose |
OMIM:618437 |
Ogden Syndrome |
|
Congenital hip dislocation, Micrognathia, Short neck, Deep philtrum, Short philtrum, High palate,... |
OMIM:300855 |
Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Branchial fistula, Arachnodactyl... |
ORPHA:261330 |
Ramon Syndrome |
|
Delayed eruption of teeth, Kyphosis, Gingival fibromatosis, Narrow palate, Scoliosis, Juvenile rh... |
OMIM:266270 |
Jacobsen Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Short neck, Pyloric stenosis, Microcephal... |
OMIM:147791 |
Occipital Horn Syndrome |
|
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormal... |
ORPHA:198 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Nausea and vomiting, Aganglionic megacolon, Feeding difficulties in infancy, Optic atrophy, Macro... |
ORPHA:847 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Esophageal varix |
OMIM:617341 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis |
OMIM:615190 |
Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Prominent metopic ridge, Depressed nasal bridge, Rocker bottom foot, Cr... |
ORPHA:1272 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Microcephaly, Cryptorchidism, Polydactyly, Short nose, Hypoplastic ischia |
OMIM:616910 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Bilateral cryptorchidism, ... |
OMIM:619859 |
Genitopatellar Syndrome |
|
Congenital hip dislocation, Micrognathia, Prominent nose, Knee flexion contracture, Anteriorly pl... |
OMIM:606170 |
Immunodeficiency 49 |
|
Wormian bones, Natal tooth, Short philtrum, Micrognathia |
OMIM:617237 |
Native American Myopathy |
|
Joint laxity, Micrognathia, Cryptorchidism, Cleft palate, Abnormal curvature of the vertebral col... |
ORPHA:168572 |
Cystic Fibrosis, Modifier Of, 1 |
|
Meconium ileus |
OMIM:603855 |
Poliomyelitis |
|
Abnormal motor nerve conduction velocity, Anorexia, Paralytic ileus, Vomiting, Dysphagia, Nausea |
ORPHA:2912 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, Short neck, High palate, Prominent palatine ridges, Microretrognathia... |
ORPHA:280633 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Premature loss of prima... |
ORPHA:667 |
Thanatophoric Dysplasia Type 2 |
|
Depressed nasal bridge, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspon... |
ORPHA:93274 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Anteverted nares, Depressed nasal bridge, Macroglossia, Concave nasal ridge, Malar flattening, Sh... |
OMIM:613038 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Osteopenia, Choanal atresia, Cleft upper lip, Cryptorchidism, Anosmia, Cleft palate, Tooth agenes... |
OMIM:147950 |
9q subtelomeric deletion syndrome |
|
Short nose, Microcephaly, Anteverted nares, Protruding tongue |
DECIPHER:52 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, Met... |
ORPHA:99646 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Hydrolethalus |
|
Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Submucous cleft hard palate, Cleft pala... |
ORPHA:2189 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l... |
ORPHA:369950 |
Gm1 Gangliosidosis Type 1 |
|
Depressed nasal bridge, Broad nasal tip, Gingival overgrowth, Hypoplastic vertebral bodies, Macro... |
ORPHA:79255 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro... |
ORPHA:93260 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Femoral bow... |
OMIM:609220 |
Familial Visceral Myopathy |
|
Abdominal distention, Aganglionic megacolon, Cleft palate |
ORPHA:2604 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi... |
ORPHA:79276 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Anteverted nares, Cle... |
ORPHA:261236 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Microretrognathia, Hip contracture, Joint laxity, Overlapping toe, Rocker bottom foot, Kyphoscoli... |
ORPHA:488642 |
Lowry-Wood Syndrome |
|
Epiphyseal dysplasia, Microcephaly, Elbow dislocation, Joint stiffness, Coxa vara, Irregular epip... |
ORPHA:1824 |
Weiss-Kruszka Syndrome |
|
Prominent metopic ridge, Exaggerated cupid's bow, Anteverted nares, Proximal placement of thumb, ... |
OMIM:618619 |
Xylt1-Cdg |
|
Joint dislocation, Relative macrocephaly, Joint laxity, Coxa valga, Microcephaly, Flared metaphys... |
ORPHA:370930 |
Gaucher Disease, Perinatal Lethal |
|
Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly... |
OMIM:608013 |
Multiple Endocrine Neoplasia, Type Iia |
|
Aganglionic megacolon |
OMIM:171400 |
Oslam Syndrome |
|
Clinodactyly of the 5th finger, Radioulnar synostosis, Carious teeth |
ORPHA:2760 |
Distal Deletion 3P |
|
Sacral dimple, Anteverted nares, Micrognathia, Short neck, Microcephaly, Postaxial hand polydacty... |
ORPHA:1620 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia, Convex nasal ridge |
OMIM:614564 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Wide nose, Dental crowding, Anteverted nares, Prominent nasal bridge, Abno... |
ORPHA:769 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Joint laxity, Sacral dimple, Depressed nasal bridge, Choanal atresia, Postaxial polydactyly, Tape... |
OMIM:300968 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Arachnodactyly, Cleft soft palate, Eosinophilic infiltration of the e... |
OMIM:615582 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Thin upper lip vermilion, Micrognathia, Abnormality of the wrist, Short neck, Upper... |
ORPHA:529962 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Enamel hypoplasia |
ORPHA:251393 |
Kilquist Syndrome |
|
Mandibular prognathia, Intestinal malrotation, Choanal atresia, Coxa valga, Midgut malrotation, X... |
OMIM:619080 |
Geleophysic Dysplasia 2 |
|
Thin upper lip vermilion, Ovoid vertebral bodies, Joint stiffness, Limitation of joint mobility, ... |
OMIM:614185 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Cleft upper lip, Conical tooth, Hypoplasia of the maxilla, 2-3 toe synd... |
OMIM:106260 |
Nephrotic Syndrome, Type 11 |
|
Arachnodactyly, Micrognathia, Cleft lip, Partial duplication of thumb phalanx, Cleft palate, High... |
OMIM:616730 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thoracic scoliosis, Micrognathia, Downturned corners of mouth, Choanal stenosis, ... |
OMIM:620186 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Bulbous nose, Wide nasal bridge, Wide mouth |
ORPHA:1231 |
Floating-Harbor Syndrome |
|
Enlarged joints, Short neck, Hypoplasia of the maxilla, Long nose, Humeral pseudarthrosis, Oligod... |
ORPHA:2044 |
X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Dental crowding, High palate, Short philtrum, Long toe, Arachnodactyly, An... |
ORPHA:3063 |
Cdags Syndrome |
|
Delayed cranial suture closure, Sagittal craniosynostosis, Rectourethral fistula, Kyphosis, Cleft... |
OMIM:603116 |
Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Feeding difficulties in infancy, Xerostomia, Chronic constipation, Smooth ... |
ORPHA:1051 |
Joubert Syndrome |
|
Feeding difficulties in infancy, Aganglionic megacolon |
ORPHA:475 |
Acrofacial Dysostosis, Cincinnati Type |
|
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Cleft palate, Femoral bow... |
OMIM:616462 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy, Vomiting |
OMIM:616881 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Esophageal stricture, Malnutrition, Feeding difficulties, Gast... |
ORPHA:89842 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ... |
OMIM:187600 |
Trisomy 18 |
|
Microretrognathia, Camptodactyly of finger, Choanal atresia, Microcephaly, Esophageal atresia, Po... |
ORPHA:3380 |
Chand Syndrome |
|
Short fifth metatarsal, Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnorm... |
ORPHA:1401 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose |
OMIM:122880 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Relative macrocephaly, Bowed humerus, Depressed nasal bridge, Short neck, Ulnar bowin... |
OMIM:620076 |
Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Abnormal nasopharynx morphology, Anteverted nares, Cleft upper lip, Rec... |
OMIM:300000 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Cryptorchidism, Anosmia, Osteoporosis, Cleft palate, Genu valgum, Decreased testicula... |
OMIM:614880 |
Joubert Syndrome With Ocular Defect |
|
Aganglionic megacolon, Cleft palate, Feeding difficulties |
ORPHA:220493 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Abdominal distention, Abnormal tongue morphology, Diarrhea, Neoplasm of th... |
ORPHA:653 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Rocker bottom foot, Intestinal malrotation, Micrognathia, Elbow dislocat... |
ORPHA:99776 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Short neck, Flexion contracture, Downturned corners of mouth, Genu varum, Long toe,... |
OMIM:264090 |
Joubert Syndrome With Oculorenal Defect |
|
Aganglionic megacolon |
ORPHA:2318 |
Frontofacionasal Dysplasia |
|
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ... |
ORPHA:1791 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Short metatarsal, Coxa vara, Deformed humeral heads, Platyspondy... |
OMIM:601438 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Depressed nasal bridge, Preaxial hand polydactyly, Foot polydactyly, Macroc... |
ORPHA:210548 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Kyphoscoliosis, Conical tooth, Microcephaly, Hemivertebrae, Oligodonti... |
OMIM:308300 |
Cornelia De Lange Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Downturned corners of mouth, Widely spaced... |
ORPHA:199 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Cleft uppe... |
OMIM:613091 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, Generalized joint laxity, High palate, Abnormal duodenum morphology, Microretr... |
OMIM:601776 |
Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Prominent metopic ridge, Craniosynostosis, Microcephaly, Underdeveloped nasal alae, C... |
ORPHA:453499 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Tracheomalacia, Micrognathia, Microcephaly, Small han... |
ORPHA:444077 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
Charge Syndrome |
|
Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Cleft upper lip, Abnormal sof... |
ORPHA:138 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Short nose |
OMIM:620292 |
Agnathia-Otocephaly Complex |
|
Wide nose, Tracheomalacia, Micrognathia, Aglossia, Cleft palate, Narrow mouth, Mandibular aplasia... |
OMIM:202650 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Prominent nasal bridge, Hamartoma of tongue, Micrognathia, Bro... |
ORPHA:2754 |
Cranioectodermal Dysplasia 3 |
|
Joint laxity, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, Sagittal crani... |
OMIM:614099 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Short long bone, Sacral dimple, Vertebral segmentation defect |
OMIM:618845 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... |
ORPHA:570 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Aganglionic megacolon, Anteriorly placed anus, High palate, Bifid uvula, Gastrostomy tube feeding... |
ORPHA:247262 |
Treacher Collins Syndrome 3 |
|
Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate, Micrognathia |
OMIM:248390 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microcephaly, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Microdontia |
ORPHA:2728 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Anteverted nares, Micrognathia, Absent radius, Preaxial hand pol... |
ORPHA:233 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge,... |
ORPHA:306542 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Tented upper lip vermilion, Short philtrum |
ORPHA:85277 |
Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
Floating-Harbor Syndrome |
|
Short neck, Short middle phalanx of the 2nd finger, Prominent nose, Downturned corners of mouth, ... |
OMIM:136140 |
Hartsfield Syndrome |
|
Syndactyly, Wide nose, Median cleft lip, Craniosynostosis, Cleft upper lip, Microcephaly, Cryptor... |
OMIM:615465 |
Macrocephaly/Autism Syndrome |
|
Joint laxity, Depressed nasal bridge, Hydrocele testis, High palate, Biparietal narrowing, Long p... |
OMIM:605309 |
Adnp Syndrome |
|
Joint laxity, Thin upper lip vermilion, Broad hallux, Sandal gap, Depressed nasal bridge, Microce... |
ORPHA:404448 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Duplication of thumb phalanx, Conical tooth, Abnormal thumb morphology, Carious teeth, Hypodontia... |
OMIM:620192 |
Geleophysic Dysplasia 1 |
|
Short palm, Osteopenia, Anteverted nares, Camptodactyly of finger, Coxa valga, Joint stiffness, S... |
OMIM:231050 |
Tarp Syndrome |
|
Finger syndactyly, Anteverted nares, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Cry... |
ORPHA:2886 |
Microlissencephaly-Micromelia Syndrome |
|
Short neck, Secondary microcephaly, Long philtrum, Short nose, Adducted thumb |
ORPHA:50810 |
Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Prominent nasal bridge, Cryptorchidism, Short toe, Wide nasal bridge, Orofacia... |
ORPHA:1519 |
Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi... |
ORPHA:740 |
Alg12-Cdg |
|
Thin upper lip vermilion, Wide nose, Sandal gap, Intestinal malrotation, Proximal placement of th... |
ORPHA:79324 |
Chops Syndrome |
|
Anteverted nares, Microcephaly, High, narrow palate, Cryptorchidism, Downturned corners of mouth,... |
OMIM:616368 |
White-Kernohan Syndrome |
|
Joint laxity, Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed n... |
OMIM:619426 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thick upper lip vermilion, Thin bony cortex, Anteverted nares, Increased i... |
OMIM:619727 |
Portal Hypertension, Noncirrhotic, 2 |
|
Esophageal varix, Hepatocellular carcinoma |
OMIM:619463 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ... |
ORPHA:280 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Short lingual frenulum, Postaxial pol... |
OMIM:614091 |
Usher Syndrome Type 2 |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:231178 |
Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Long hallux, Broad columella, Abnormality of t... |
ORPHA:2308 |
Pachyonychia Congenita 2 |
|
Oral leukoplakia, Natal tooth, Angular cheilitis |
OMIM:167210 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, High, narrow palate, Clinodactyly, Short philtrum, High palate, Shor... |
OMIM:613406 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diarrhea, Vestibular areflexia, Vomiting |
ORPHA:3240 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, Depressed nasal bridge, Clef... |
OMIM:280000 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Advanced eruption of teeth |
ORPHA:2348 |
Branchiooculofacial Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Clinodactyly of the 5th finger, Depressed ... |
OMIM:113620 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Micrognathia, Microcephaly, Submucous cleft hard palate, Vertebral clefting, Cl... |
OMIM:301043 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Short nose, Micrognathia |
OMIM:266810 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Depressed nasal bridge, Wide anterior fontanel, Kyphosis, Tibial bowing, Fe... |
OMIM:616482 |
Meckel Syndrome, Type 1 |
|
Micrognathia, Short neck, Lobulated tongue, Syndactyly, Cleft upper lip, Cryptorchidism, Postaxia... |
OMIM:249000 |
Adenylosuccinase Deficiency |
|
Thin upper lip vermilion, Prominent metopic ridge, Anteverted nares, Microcephaly, Wide mouth, Lo... |
OMIM:103050 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Long nose, Downturned corners of mouth, High palate, Clinodactyly of the 5th finger, Anteverted n... |
OMIM:619522 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Nausea and vomiting, Abdominal pain |
ORPHA:900 |
Cystic Fibrosis |
|
Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Steatorrhea, Exocrine pancreatic insufficiency |
OMIM:219700 |
Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ... |
OMIM:277170 |
Diamond-Blackfan Anemia 1 |
|
Depressed nasal ridge, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb ... |
OMIM:105650 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Aplasia of the nasal bone, Jejunal atresia, Ileal atresia, Micrognathia, Kyphoscolios... |
OMIM:618820 |
Craniofrontonasal Syndrome |
|
Joint laxity, Toe syndactyly, Broad hallux, Down-sloping shoulders, Cleft upper lip, Abnormality ... |
OMIM:304110 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn... |
ORPHA:321 |
Ear-Patella-Short Stature Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly of the 5th finger, Bif... |
ORPHA:2554 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Coxa val... |
OMIM:304150 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Osteoarthritis, Abnormal intervertebral disk morphology, Platyspondyly, Joint stiffness |
ORPHA:1345 |
Kabuki Syndrome |
|
Hemivertebrae, Orofacial cleft, Abnormal form of the vertebral bodies, High palate, Widely spaced... |
ORPHA:2322 |
1P21.3 Microdeletion Syndrome |
|
Broad nasal tip, Micrognathia, Wide mouth, Macrocephaly, Short nose, Joint hypermobility |
ORPHA:293948 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Thin upper lip vermilion, Depressed nasal bridge, Tapered finger, Carious teeth, Long fingers, Na... |
OMIM:616734 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Depressed nasal ridge, Bifid uvula, Microretrognathia, Mesoaxial polydactyly, Radi... |
ORPHA:672 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Celiac disease, Bulbous nose, Absent cupid's bow, Short ... |
ORPHA:284169 |
Cadds |
|
Short nose, Micrognathia |
ORPHA:369942 |
Alopecia Antibody Deficiency |
|
Abnormality of dental color |
ORPHA:1006 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o... |
OMIM:184253 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Depressed nasal bridge, Tapered finger, Hyperlordosis, Cleft lip, Hip dislocation, Cleft palate, ... |
OMIM:301066 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Joi... |
ORPHA:2167 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Mckusick-Kaufman Syndrome |
|
Aganglionic megacolon, Cleft palate, Ectopic anus, High palate, Anal atresia |
ORPHA:2473 |
Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... |
OMIM:204690 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Carious teeth, Premature loss of teeth, Oral leukoplakia, Microcephaly |
OMIM:616353 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Short metacarpal, Cleft upper lip, Wide nasal bridge, Cleft palate, Wide m... |
OMIM:201180 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Thin upper lip vermilion, Anteverted nares, Narrow mouth, Metopic synostosis, Macrocephaly, Short... |
OMIM:613735 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Anteverted nares, Underdeveloped nasal alae, Glossoptosis, Biparietal narrowing, Clinodactyly of ... |
ORPHA:2031 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Diffuse Cutaneous Systemic Sclerosis |
|
Malabsorption, Carious teeth, Flexion contracture, Xerostomia, Osteolysis, Arthritis, Narrow fora... |
ORPHA:220393 |
Lead Poisoning |
|
Delayed eruption of teeth, Abnormal sperm morphology, Cranial hyperostosis, Oligozoospermia |
ORPHA:330015 |
Adams-Oliver Syndrome 6 |
|
Esophageal varix |
OMIM:616589 |
Restrictive Dermopathy |
|
Osteopenia, Natal tooth, Thoracic kyphoscoliosis, Aplasia/Hypoplasia involving the nose, Multiple... |
ORPHA:1662 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Ovoid vertebral b... |
ORPHA:85167 |
Glycogen Storage Disease Iv |
|
Hepatic failure, Esophageal varix |
OMIM:232500 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Rocker bottom foot, Microcephaly, Metatarsus adductus, High, narrow palate, Narrow mo... |
OMIM:272950 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Gastroparesis, Paralytic ileus, Constipation, Abnormal autonomic nervous... |
ORPHA:139417 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Chronic diarrhea, Inflammation of the large intestine, Optic atrophy, Esophageal varix |
OMIM:614576 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Esophageal stenosis, Oral leukoplakia |
OMIM:616553 |
Popliteal Pterygium Syndrome |
|
Cleft upper lip, Cryptorchidism, Lower lip pit, Fibrous syngnathia, Cleft palate, Popliteal ptery... |
OMIM:119500 |
Diamond-Blackfan Anemia 8 |
|
Short nose, Thick upper lip vermilion, Wide nasal bridge |
OMIM:612563 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Orthostatic hypotension, Esophageal stenosis, Feeding difficulties, Dysphagia, Achalasia |
OMIM:615510 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Narrow nasal ridge, Micrognathia, Osteolytic defects of the phalanges of the hand, Advanced erupt... |
ORPHA:280365 |
Bloom Syndrome |
|
Syndactyly, Microcephaly, Prominent nose, Cryptorchidism, Recurrent upper respiratory tract infec... |
OMIM:210900 |
Marden-Walker Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Micrognathia, Metatarsus adductus, Pyloric stenosis, Kyp... |
ORPHA:2461 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Recurrent upper respiratory tract inf... |
ORPHA:508542 |
Lelis Syndrome |
|
Carious teeth, Mandibular prognathia, Hypodontia, Furrowed tongue |
ORPHA:140936 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Arachnodactyly, Anteverted nares, Depressed nasal bridge, Microcephaly, Abnormal thumb morphology... |
ORPHA:2719 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Hemivertebrae, Downturned corners of mouth, Short philtrum, Bifid uvul... |
ORPHA:500150 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Thin upper lip vermilion, Prominent nasal tip, Joint laxity, Sandal gap, S... |
OMIM:620330 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Downturned corners of mouth, Hypoplastic vertebral bodies, Short philtrum, Premature ... |
ORPHA:3455 |
Waardenburg Syndrome, Type 4C |
|
Aganglionic megacolon |
OMIM:613266 |
Wiedemann-Steiner Syndrome |
|
Thin upper lip vermilion, Sacral dimple, Hyperextensibility at elbow, Tapered finger, Microcephal... |
ORPHA:319182 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Microcephaly, Carious teeth, Esophageal stricture, Osteoporosis, Microdontia, Pterygium, Oral leu... |
OMIM:224230 |
46,Xy Sex Reversal 4 |
|
Distal symphalangism, Anteverted nares, Micrognathia, Prominent nose, Depressed nasal ridge, Clef... |
OMIM:154230 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Short thumb, Partial duplication of thumb phalanx, Xerostomia, Widely spaced teeth... |
OMIM:620193 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Prominent metopic ri... |
ORPHA:2729 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micrognathia, Short neck, Prominent nose, Delayed epiphyseal ossification, Flexion contracture, P... |
OMIM:210710 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Den... |
OMIM:619503 |
Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Esophageal atresia, Tracheoesophageal fistula, Cle... |
ORPHA:3157 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Feeding difficulties in infancy, Esophageal atresia, High palate, Bifid uvula |
OMIM:618779 |
Cerebrocostomandibular Syndrome |
|
Tracheomalacia, Micrognathia, Microcephaly, Kyphosis, Cleft palate, Glossoptosis, Clinodactyly of... |
ORPHA:1393 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Abnormal neuron branching, Hepatic failure, Esophageal varix, Decreased liver function |
ORPHA:367 |
Aicardi Syndrome |
|
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Cleft upper lip, Hiatus hern... |
ORPHA:50 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Tented upper lip vermilion, Micrognathia, Short neck, Flexion contrac... |
OMIM:601803 |
Methimazole Embryofetopathy |
|
Esophageal atresia, Tracheoesophageal fistula |
ORPHA:1923 |
Congenital Myopathy 13 |
|
Kyphoscoliosis, Micrognathia, Microcephaly, Cryptorchidism, Flexion contracture, Cleft palate, Do... |
OMIM:255995 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Short greater sciatic notc... |
OMIM:187601 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge, Microcephaly |
OMIM:200130 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Orofacial cleft, Abnormal form of the vertebral bodies, Downturned corners of mouth... |
OMIM:194190 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Micrognathia, High, narrow palate, Abnormal finger m... |
ORPHA:3472 |
Corneodermatoosseous Syndrome |
|
Abnormal dental enamel morphology, Carious teeth, Abnormal finger morphology, Gingivitis, Short p... |
ORPHA:3194 |
Holoprosencephaly 3 |
|
Depressed nasal bridge, Proboscis, Microcephaly, Abnormality of the nose, Cleft lip, Single naris... |
OMIM:142945 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Lumbar hyperlordosis, ... |
OMIM:250420 |
Peters Plus Syndrome |
|
Micrognathia, Short neck, Widely spaced teeth, Clinodactyly of the 5th finger, Spina bifida occul... |
ORPHA:709 |
Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatarsal, Finger clinodacty... |
OMIM:617137 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Macrodontia, Micrognathia, Microcephaly, Narrow ... |
OMIM:309500 |
Coffin-Siris Syndrome 4 |
|
Narrow nasal bridge, Thin upper lip vermilion, Everted upper lip vermilion, Wide nose, Anteverted... |
OMIM:614609 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Osteomalacia, Wrist swelling, Kyphosis, Cryptorchidism, Hip dislocation,... |
OMIM:309000 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:600081 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... |
OMIM:274000 |
Duane-Radial Ray Syndrome |
|
Anal stenosis, Aganglionic megacolon, Facial palsy, Anal atresia |
OMIM:607323 |
Mckusick-Kaufman Syndrome |
|
Aganglionic megacolon, Anal atresia, Rectovaginal fistula |
OMIM:236700 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma |
ORPHA:64743 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Diarrhea, Esophageal varix, Vomiting, Protuberant abdomen, Steatorrhea, He... |
OMIM:278000 |
Toriello-Lacassie-Droste Syndrome |
|
Aganglionic megacolon, Feeding difficulties |
ORPHA:3339 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnor... |
ORPHA:2363 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha... |
OMIM:250220 |
Spondyloocular Syndrome |
|
Long toe, Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Duodenal ulcer, Abnormalit... |
OMIM:605822 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Joint dislocation, Osteopenia, Joint laxity, Congenital hip dislocation, Dental crowding, Arachno... |
OMIM:225400 |
Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia |
OMIM:226730 |
Degcags Syndrome |
|
Osteopenia, Micrognathia, Prominent nose, High palate, Syndactyly, Anteverted nares, Hiatus herni... |
OMIM:619488 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Hy... |
OMIM:613717 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Micrognathia, Conical tooth, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Cranioectodermal Dysplasia 2 |
|
Micrognathia, Short neck, Fused teeth, High palate, Widely spaced teeth, Microdontia, Joint laxit... |
OMIM:613610 |
Brachyolmia Type 3 |
|
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec... |
OMIM:113500 |
Chromosome 3Q29 Duplication Syndrome |
|
Microcephaly, Bulbous nose, Wide nasal bridge, Macrocephaly, Short nose |
OMIM:611936 |
Aspartylglucosaminuria |
|
Joint laxity, Anteverted nares, Depressed nasal bridge, Microcephaly, Kyphosis, Hypoplastic front... |
OMIM:208400 |
Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Persistence of primary teeth, Abnormality of the dentition, Micrognathia, Th... |
ORPHA:2785 |
Non-Syndromic Posterior Hypospadias |
|
Esophageal atresia, Anal atresia, Cleft palate |
ORPHA:95706 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Prominent nasal bridge, Micrognathia, Microcephaly, Prea... |
OMIM:243605 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture |
OMIM:620133 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Long philtrum, Short nos... |
OMIM:616430 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Paralytic ileus, Melena, Hepatocellular carci... |
OMIM:276700 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Overlapping toe, Arachnodactyly, Micrognathia, Microcephaly, Contracture of the distal interphala... |
ORPHA:83617 |
Aspergillosis |
|
Abnormal esophagus morphology |
ORPHA:1163 |
Fryns Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cleft palate, Meckel diverticu... |
OMIM:229850 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Thin upper lip vermilion, Lumbar hyperlordosis, Progressive flexion contractures, E... |
ORPHA:522077 |
Marfan Syndrome |
|
Osteopenia, Arthralgia/arthritis, Dental crowding, Arachnodactyly, Protrusio acetabuli, Micrognat... |
ORPHA:558 |
Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Choanal atresia, Micrognathia, Microcephaly, Cryptorchidism, Hypoplasti... |
OMIM:300712 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Congenital hip dislocation, Prominent nose, Abnormal periodontium morphology, High pa... |
ORPHA:480880 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Chronic gastritis, Osteopenia, Micrognathia, Prominent nose, Bilateral cry... |
OMIM:150230 |
Dend Syndrome |
|
Prominent metopic ridge, Anteverted nares, Downturned corners of mouth, Long philtrum, Clinodacty... |
ORPHA:79134 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:241530 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Short neck, High, nar... |
OMIM:208150 |
Leopard Syndrome 1 |
|
Mandibular prognathia, Limited elbow movement, Short neck, Kyphoscoliosis, Cryptorchidism, Depres... |
OMIM:151100 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Ankyloglossia |
OMIM:618021 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Anteverted nares, Proximal placement of thumb, Hia... |
OMIM:304050 |
X-Linked Intellectual Disability, Armfield Type |
|
Mandibular prognathia, Depressed nasal bridge, Micrognathia, Cryptorchidism, Abnormality of the e... |
ORPHA:85276 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Meconium ileus, Feeding difficulties |
OMIM:617239 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Epistaxis, Carious teeth, Osteoporosis, Oral ulcer, Gingivitis, Enterocolitis, Ulcera... |
ORPHA:79259 |
Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon |
OMIM:609460 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose, Secondary microcephaly, Primary microcephaly |
ORPHA:289266 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Anteverted nares, Microcephaly, Protruding tongue, Cryptorchidism, Downturned corners of mouth, M... |
ORPHA:96147 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Faundes-Banka Syndrome |
|
Thin upper lip vermilion, Micrognathia, Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, ... |
OMIM:619376 |
Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis, Esophageal varix |
OMIM:215600 |
Microphthalmia, Syndromic 1 |
|
Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, High palate, Prominent fi... |
OMIM:309800 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Toe syndactyly, Absence of Stensen duct, Selective tooth agenesis, Hypoplastic sac... |
OMIM:604292 |
Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Platyspondyly, Bowing of limbs due to multiple fractures, Scoliosis, Joint h... |
OMIM:615220 |
Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia |
OMIM:615272 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont... |
ORPHA:261537 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Absent thumb, Absent radius, Esophageal atresia, Micrognathia, Short neck, Tr... |
OMIM:614083 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxi... |
OMIM:263520 |
Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... |
ORPHA:101085 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Kyphoscoliosis, Micrognathia, Hyperlordosis, Abnormal tibia morphology, Bone cyst, Gen... |
ORPHA:363700 |
Coach Syndrome 1 |
|
Optic disc pallor, Esophageal varix |
OMIM:216360 |
Bardet-Biedl Syndrome 1 |
|
Aganglionic megacolon, High, narrow palate, High palate |
OMIM:209900 |
Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Cleft soft palate |
OMIM:614526 |
Loeys-Dietz Syndrome 1 |
|
Joint laxity, Arachnodactyly, Eosinophilic infiltration of the esophagus, Micrognathia, Craniosyn... |
OMIM:609192 |
Kabuki Syndrome 1 |
|
Joint dislocation, Congenital hip dislocation, Micrognathia, High palate, Prominent fingertip pad... |
OMIM:147920 |
Cystic Fibrosis |
|
Meconium ileus, Malabsorption, Rectal prolapse, Gastroesophageal reflux, Steatorrhea, Exocrine pa... |
ORPHA:586 |
Tetrasomy 9P |
|
Joint dislocation, Dental crowding, Micrognathia, Short neck, Downturned corners of mouth, High p... |
ORPHA:3310 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Kyphoscoliosis, Microcephaly, Kyphosis, Metaphyseal widening, Os... |
OMIM:259770 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of... |
OMIM:129900 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Esophageal stricture |
ORPHA:158673 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... |
ORPHA:75508 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Cartilage-Hair Hypoplasia |
|
Aganglionic megacolon, Malabsorption |
ORPHA:175 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Micrognathia |
OMIM:243440 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont... |
ORPHA:2152 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Esophageal stricture, Gastrointestinal inflammation |
ORPHA:79409 |
Microgastria-Limb Reduction Defect Syndrome |
|
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... |
ORPHA:2538 |
Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures... |
OMIM:300554 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Depressed nasal bridge, Fle... |
OMIM:619479 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
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Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth, Microcephaly |
OMIM:617799 |
Down Syndrome |
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Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Anal atresia |
OMIM:190685 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Abnormal pelvis bone morphology, Aganglionic megacolon, Abnormal dental enamel morphology, Campto... |
ORPHA:2273 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont... |
ORPHA:261552 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
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Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Isolated Exencephaly |
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Depressed nasal bridge, Abnormal facial skeleton morphology, Hypoplasia of the frontal bone |
ORPHA:563612 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Esophageal atresia, Tracheoesophageal fistula, Anal atresia |
OMIM:314390 |
Warburg Micro Syndrome 2 |
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Overlapping toe, Prominent nasal bridge, Microcephaly, Cryptorchidism, Flexion contracture, Secon... |
OMIM:614225 |
Smith-Lemli-Opitz Syndrome |
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Aganglionic megacolon, Intestinal malrotation, Pyloric stenosis, Gastrointestinal dysmotility, Ab... |
OMIM:270400 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Lumbar hyperlordosis, Short neck, Joint stiffness, Flexion contracture, Lumbar kyphosis, Macroglo... |
ORPHA:505248 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
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Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia |
OMIM:619227 |
22Q11.2 Deletion Syndrome |
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Gastrointestinal hemorrhage, Aganglionic megacolon, Intestinal malrotation, Bowel incontinence, F... |
ORPHA:567 |
Acro-Renal-Ocular Syndrome |
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Optic disc coloboma, Aganglionic megacolon |
ORPHA:959 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Back pain, High, narrow palate, Abnormal curvature of the vertebral column, Short philtrum, High ... |
OMIM:619475 |
Fanconi Anemia |
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Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula, Cleft palate, ... |
ORPHA:84 |
Moderate Hemophilia A |
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Arthropathy, Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joi... |
ORPHA:169805 |
Immunodeficiency 12 |
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Esophageal stricture, Recurrent aphthous stomatitis |
OMIM:615468 |
Encephalocraniocutaneous Lipomatosis |
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Craniofacial hyperostosis, Bone cyst, Abnormal cartilage morphology, Osteolysis, Macrocephaly, Os... |
ORPHA:2396 |
Mogs-Cdg |
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Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Chronic con... |
ORPHA:79330 |
Roberts-Sc Phocomelia Syndrome |
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Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wri... |
OMIM:268300 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Delayed eruption of primary teeth |
OMIM:300952 |
Infantile Liver Failure Syndrome 3 |
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Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver... |
OMIM:618641 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Diarrhea, Esophageal varix, Hepatocellular adenoma, Vomiting, Nausea |
ORPHA:264580 |
Lacrimoauriculodentodigital Syndrome 1 |
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Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... |
OMIM:149730 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Esophageal atresia, Tracheoesophageal fistula |
ORPHA:77298 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
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Depressed nasal bridge, Cryptorchidism, Gout, Wide mouth, High palate, Short nose, Convex nasal r... |
OMIM:300661 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
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Esophageal varix |
OMIM:619662 |
Kindler Epidermolysis Bullosa |
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Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Premature loss of ... |
ORPHA:2908 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
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Epistaxis, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal phalanx of finger |
OMIM:277450 |
Caroli Disease |
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Cholangiocarcinoma, Anorexia, Abdominal pain, Esophageal varix, Abdominal rigidity, Vomiting, Nausea |
ORPHA:53035 |
Adams-Oliver Syndrome 5 |
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Esophageal varix |
OMIM:616028 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Decreased testicular size, Intestinal malrotation, Cleft soft palate, Microcephaly, Flexion contr... |
OMIM:619321 |
Loeys-Dietz Syndrome 2 |
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Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Eosinophili... |
OMIM:610168 |
Hyperparathyroidism, Transient Neonatal |
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Osteopenia, Wide cranial sutures, Short femur, Anteverted nares, Metaphyseal spurs, Depressed nas... |
OMIM:618188 |
Mowat-Wilson Syndrome |
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Delayed eruption of teeth, Aganglionic megacolon, Microcephaly, Pyloric stenosis, Cryptorchidism,... |
OMIM:235730 |
Adams-Oliver Syndrome |
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Gastrointestinal hemorrhage, Esophageal varix |
ORPHA:974 |
Neu-Laxova Syndrome 1 |
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Finger syndactyly, Wide nose, Toe syndactyly, Pterygium, Rocker bottom foot, Swollen lip, Cleft u... |
OMIM:256520 |
Sotos Syndrome |
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Joint laxity, Hip contracture, Sacrococcygeal teratoma, Aganglionic megacolon, Ankle flexion cont... |
ORPHA:821 |
Fanconi Anemia, Complementation Group B |
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Esophageal atresia, Tracheoesophageal fistula, Duodenal atresia |
OMIM:300514 |
Acrocephalopolydactylous Dysplasia |
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Hypoplastic colon, Craniosynostosis, Short neck, Postaxial hand polydactyly, Hypoplasia of the sm... |
OMIM:200995 |
Noonan Syndrome 3 |
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Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosynostosis, Cryptorchidism, High palat... |
OMIM:609942 |
Scalp-Ear-Nipple Syndrome |
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Delayed eruption of teeth, Abnormality of the dentition |
ORPHA:2036 |
Classic Homocystinuria |
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Gastrointestinal hemorrhage, Anorexia, Optic atrophy, Esophageal varix, High palate |
ORPHA:394 |
Feingold Syndrome |
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Esophageal atresia, Duodenal atresia |
ORPHA:1305 |
Dent Disease 1 |
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Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures... |
OMIM:300009 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
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Short long bone, Polydactyly, Scoliosis, Brachydactyly |
OMIM:613819 |
Lysosomal Acid Lipase Deficiency |
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Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Diarrh... |
ORPHA:275761 |
Alkaptonuria |
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Joint dislocation, Abnormality of the nose, Cartilage destruction, Joint stiffness, Osteoarthriti... |
ORPHA:56 |
Mirage Syndrome |
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Achalasia, Chronic diarrhea, Gastroesophageal reflux, Esophageal stricture |
OMIM:617053 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
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Short metacarpal, Microcephaly, Abnormal cartilage matrix, Epiphyseal stippling, Arthrogryposis m... |
ORPHA:86822 |
Larsen-Like Syndrome, Lethal Type |
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Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Tracheomalacia |
OMIM:245650 |
Molybdenum Cofactor Deficiency, Complementation Group B |
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Microcephaly, Thick vermilion border, Macrocephaly, Short nose, Long philtrum |
OMIM:252160 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
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Esophageal stricture, Chronic diarrhea, Oral leukoplakia |
OMIM:613989 |
Cerebrotendinous Xanthomatosis |
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Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
Molybdenum Cofactor Deficiency, Complementation Group A |
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Microcephaly, Thick vermilion border, Macrocephaly, Short nose, Long philtrum |
OMIM:252150 |
Chronic Graft Versus Host Disease |
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Anorexia, Abdominal pain, Esophageal stricture, Diarrhea, Xerostomia, Abnormal esophagus morpholo... |
ORPHA:99921 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Abnormal pelvic girdle bone morphology, Sinusitis, Growth arrest lines, Platyspondyly |
OMIM:102700 |
Hereditary Hemorrhagic Telangiectasia |
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Intestinal polyposis, Hepatic failure, Esophageal varix, Gastrointestinal hemorrhage |
ORPHA:774 |
Kindler Syndrome |
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Anal stenosis, Esophageal stenosis, Oral leukoplakia, Dysphagia |
OMIM:173650 |
Wilson Disease |
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Acute hepatic failure, Hepatocellular carcinoma, Decreased nerve conduction velocity, Abdominal d... |
OMIM:277900 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Hematemesis, Esophageal varix |
OMIM:263200 |
Treacher Collins Syndrome 1 |
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Cleft soft palate, Choanal atresia, Micrognathia, Cryptorchidism, Cleft palate, Wide mouth, Abnor... |
OMIM:154500 |
Stevens-Johnson Syndrome |
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Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Abdominal pain, Esophage... |
ORPHA:36426 |
Tetraamelia Syndrome 1 |
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Choanal atresia, Micrognathia, Cleft upper lip, Single naris, Cleft palate, Hypoplastic pelvis, A... |
OMIM:273395 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
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Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... |
ORPHA:2502 |
Caroli Syndrome |
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Cholangiocarcinoma, Abdominal pain, Hematemesis, Esophageal varix, Abdominal rigidity, Melena, He... |
ORPHA:480520 |
Hardikar Syndrome |
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Cleft soft palate, Intestinal malrotation, Abdominal pain, Celiac disease, Hematemesis, Esophagea... |
OMIM:301068 |
Feingold Syndrome Type 1 |
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Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia |
ORPHA:391641 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
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Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, ... |
OMIM:615503 |
Immunodeficiency 23 |
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Esophageal stricture, High palate |
OMIM:615816 |
Pmm2-Cdg |
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Mandibular prognathia, Thin upper lip vermilion, Osteopenia, Multiple joint contractures, Antever... |
ORPHA:79318 |
Aplasia Of Lacrimal And Salivary Glands |
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Carious teeth, Xerostomia |
OMIM:180920 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Feeding difficulties, Optic atrophy, Esophageal varix, Abdominal pain |
OMIM:615688 |
Adult-Onset Still Disease |
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Cartilage destruction, Joint swelling, Recurrent pharyngitis, Arthritis |
ORPHA:829 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Intestinal malrotation, Esophageal varix, Feeding difficulties, Gastroesophageal reflux, High pal... |
OMIM:613658 |
Vacterl With Hydrocephalus |
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Esophageal atresia, Tracheoesophageal fistula, Anal atresia |
ORPHA:3412 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Pla... |
ORPHA:93317 |
Craniofacial Microsomia 1 |
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Block vertebrae, Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Partial duplication of... |
OMIM:164210 |
Feingold Syndrome 1 |
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Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Tracheoesophageal fistula, High pa... |
OMIM:164280 |
Autosomal Recessive Polycystic Kidney Disease |
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Gastrointestinal hemorrhage, Cholangiocarcinoma, Esophageal varix, Feeding difficulties, Protein-... |
ORPHA:731 |
Arima Syndrome |
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Optic atrophy, Esophageal varix |
OMIM:243910 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Esophageal varix |
ORPHA:309854 |
Senior-Boichis Syndrome |
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Esophageal varix |
ORPHA:84081 |
Reactive Arthritis |
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Osteomyelitis, Joint stiffness, Cartilage destruction, Enthesitis, Arthritis, Inflammation of the... |
ORPHA:29207 |
Microphthalmia, Syndromic 3 |
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Esophageal atresia, Optic nerve hypoplasia, Optic nerve aplasia |
OMIM:206900 |
Maternal Phenylketonuria |
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Esophageal atresia, High palate |
ORPHA:2209 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Congenital s... |
OMIM:265380 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Papilledema, Gastric ulcer, Esophageal varix, Feeding difficulties |
ORPHA:2072 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Aganglionic megacolon, Cleft palate |
OMIM:308205 |
Congenital Tracheomalacia |
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Esophageal atresia, Gastroesophageal reflux, Tracheoesophageal fistula, Feeding difficulties |
ORPHA:95430 |
Progeroid Short Stature With Pigmented Nevi |
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Esophageal ulceration, Vomiting |
OMIM:176690 |
Fanconi Anemia, Complementation Group D2 |
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Esophageal atresia, Tracheoesophageal fistula |
OMIM:227646 |
Peroxisome Biogenesis Disorder 4B |
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Short nose, Macrocephaly |
OMIM:614863 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Anal fissure, Malnutrition, Gastrointestinal inflammation, Gastroesophageal reflux, Dysphagia, Es... |
ORPHA:79408 |
Dyskeratosis Congenita, X-Linked |
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Esophageal stricture, Optic atrophy, Oral leukoplakia, Anal mucosal leukoplakia |
OMIM:305000 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Esophageal stricture, Malnutrition, Gastrointestinal inflammation, Constipation, Vomiting |
ORPHA:79404 |
Osteopetrosis, Autosomal Recessive 7 |
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Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis, Increased head circumference |
OMIM:612301 |
Gabriele-De Vries Syndrome |
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Oral-pharyngeal dysphagia, Feeding difficulties in infancy, Esophageal atresia, High palate, Gast... |
ORPHA:506358 |
Lipodystrophy, Familial Partial, Type 7 |
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Short nose, Narrow nasal ridge, Narrow mouth |
OMIM:606721 |
Charge Syndrome |
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Anal stenosis, Facial palsy, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Feeding... |
OMIM:214800 |
Vater/Vacterl Association |
|
Esophageal atresia, Tracheoesophageal fistula, Anal atresia |
OMIM:192350 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Esophageal atresia, Abdominal distention, Ectopic anus, Bifid tongue, Anal atresia |
ORPHA:93271 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Gastroesophageal reflux, Esophageal varix, Abdominal distention |
OMIM:619534 |
Penile Agenesis |
|
Depressed nasal bridge, Rectal fistula, Cryptorchidism, Tracheoesophageal fistula, Short nose, An... |
ORPHA:49 |
Alström Syndrome |
|
Gastroesophageal reflux, Hepatic failure, Esophageal varix, Optic disc pallor |
ORPHA:64 |
Iga Nephropathy, Susceptibility To, 3 |
|
|
OMIM:616818 |