| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
| Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
| Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
| Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
| Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
| Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
| Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... |
OMIM:128980 |
| Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Wid... |
OMIM:619736 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
| Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, External ear malformation, Conductive hearing impairment, Aplasia/Hypo... |
ORPHA:3232 |
| Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Posteriorly rotated ears, Anteverted nares, Micrognathia, Dyspnea, Large fo... |
ORPHA:1832 |
| Anonychia-Microcephaly Syndrome |
|
Carious teeth, Abnormality of the dentition |
ORPHA:1094 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
| Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
| Rhizomelic Syndrome |
|
Wide anterior fontanel, Hip dislocation, Micrognathia |
OMIM:268250 |
| Tooth Agenesis, Selective, 1 |
|
Hypodontia |
OMIM:106600 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola... |
ORPHA:2972 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
| Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hypoplasia ... |
OMIM:610829 |
| Lissencephaly, X-Linked, 2 |
|
Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Wide anterior fontanel, Wide nasa... |
OMIM:300215 |
| Chromosome 16Q22 Deletion Syndrome |
|
Prominent metopic ridge, Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Wide ant... |
OMIM:614541 |
| Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
| Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A... |
ORPHA:401942 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Tented upper lip vermilion, Prominent nose, Cryptorchidism, Brachycepha... |
OMIM:619244 |
| Larsen-Like Syndrome |
|
Joint dislocation, Wide anterior fontanel, Dental malocclusion, Cleft palate, Recurrent otitis me... |
OMIM:608545 |
| Bartsocas-Papas Syndrome 2 |
|
Accessory oral frenulum, Micrognathia, Wide anterior fontanel, Antecubital pterygium, Bilateral c... |
OMIM:619339 |
| Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Dental crowding, Microdontia, Carious teeth, Wide anterior fo... |
OMIM:269300 |
| Tricho-Dento-Osseous Syndrome |
|
Frontal bossing, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesi... |
ORPHA:3352 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Depressed nasal bridge, Micrognathia, Wide anterior fontanel, Abnormalit... |
ORPHA:3098 |
| Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Cryptorchidism, Bulbous... |
OMIM:616788 |
| Pierre Robin Syndrome |
|
Neonatal respiratory distress, Micrognathia, Pierre-Robin sequence, Upper airway obstruction, Cle... |
OMIM:261800 |
| Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib... |
ORPHA:83451 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Abnormality of... |
ORPHA:2412 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Frontal bossing, Micrognathia, Hydrocephalus, Cerebellar hypoplasia, Dolichocephaly, Dandy-Walker... |
ORPHA:1538 |
| Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Anteverted nares, Craniosynostosis, Wide anterior fontan... |
OMIM:601853 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
| Mohr Syndrome |
|
Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Micrognathia, Hypoplasia of th... |
OMIM:252100 |
| Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Large posterior fontanelle, Death in infancy, Posteriorly rotated ears, Wide anterior fontanel, J... |
OMIM:614872 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Microretrognathia, Frontal bossing, Agenesis of cerebellar vermis, Depr... |
OMIM:220220 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate, Convex nasal ridge, Craniosynostosis |
OMIM:600252 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Upper airway obst... |
ORPHA:141152 |
| Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici... |
ORPHA:99772 |
| Catifa Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Cleft lip, Asthma, Cleft palate, Microtia, Increased... |
OMIM:618761 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Micrognathia, Cryptorchidism, Hydrocephalus, Unilambdoid synostosis, Wide nasal... |
OMIM:618577 |
| Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Respiratory distress, Dental crowding, Posteriorly rotated e... |
OMIM:614669 |
| Non-Distal Duplication 10Q |
|
Low-set, posteriorly rotated ears, Frontal bossing, Depressed nasal bridge, Micrognathia, Cryptor... |
ORPHA:1695 |
| Isolated Pierre Robin Syndrome |
|
Neonatal respiratory distress, Micrognathia, Upper airway obstruction, Cleft palate, Glossoptosis |
ORPHA:718 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Dow... |
OMIM:613443 |
| Intellectual Disability, Birk-Barel Type |
|
Narrow nasal bridge, Hyperactivity, Tented upper lip vermilion, Micrognathia, Broad nasal tip, Hi... |
ORPHA:166108 |
| Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Gingival overgrowth, Hearing impairment, Abnormality of the dentition |
ORPHA:2222 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Posteriorly rotated ears, Micrognathia, Prominent nose, Wide anterior fontanel, Wide nasal bridge... |
OMIM:201170 |
| Brachydactyly, Type B1 |
|
Vertebral fusion, Wide anterior fontanel, Delayed eruption of permanent teeth, Joint contracture ... |
OMIM:113000 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Wide anterior fontanel, Abnormality of th... |
ORPHA:163649 |
| Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Prominent crus of helix, Long nose, Cleft of chin, Parietal foramina, ... |
OMIM:101400 |
| Rubinstein-Taybi Syndrome 2 |
|
Hyperactivity, Posteriorly rotated ears, Intestinal malrotation, Micrognathia, Carious teeth, Pro... |
OMIM:613684 |
| Perching Syndrome |
|
Respiratory distress, Cyanosis, Depressed nasal bridge, High palate, Dysphagia |
OMIM:617055 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Sensorineural hearing impairme... |
OMIM:166750 |
| Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
| Gómez-López-Hernández Syndrome |
|
Turricephaly, Cerebellar vermis hypoplasia, Anteverted nares, Abnormal cerebellum morphology, Hyd... |
ORPHA:1532 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Sensorineural hearing impairment, Gingival fibromatosis, Gingival over... |
ORPHA:2027 |
| Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... |
OMIM:137550 |
| Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
| Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Exaggerated cupid's bow, Abnormal dental morphology, Depressed nasal b... |
ORPHA:2025 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Wide anterior fontanel, Depressed nasal bridge, Anteverted nares, Micrognathia |
OMIM:618272 |
| Elsahy-Waters Syndrome |
|
Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Brachycephaly, Anteri... |
OMIM:211380 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Small earlobe, Prominent nasal bridge, Abnor... |
ORPHA:364577 |
| Cleidocranial Dysplasia 2 |
|
Delayed eruption of primary teeth, Hypoplasia of the maxilla, Wide anterior fontanel, Supernumera... |
OMIM:620099 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Supernumerary tooth, Abnormal antihelix morphology, Hypoplasia of th... |
ORPHA:3145 |
| Progeroid Syndrome, Petty Type |
|
Mandibular prognathia, Low-set, posteriorly rotated ears, Reduced subcutaneous adipose tissue, Pr... |
ORPHA:2963 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Congenital hip dislocation, Anteverted nares, Carious teeth, Wide anterior fontanel, Excessive wr... |
OMIM:219200 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
| 17Q21.31 Microduplication Syndrome |
|
Anteverted nares, Abnormality of the dentition, Micrognathia, High palate, Short philtrum, Malar ... |
ORPHA:217340 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Micrognathia, Clef... |
ORPHA:2015 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Micrognathia, Wide anterior fontanel, Wormian bones, Pulmonary arterial hype... |
OMIM:259420 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Posteriorly rotated ears, Micrognathia, Underdeveloped nasal alae, Wide anterior fontanel, Large ... |
OMIM:263210 |
| Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Brachyc... |
ORPHA:207 |
| Sweeney-Cox Syndrome |
|
Uplifted earlobe, Micrognathia, High palate, Short philtrum, Median cleft palate, Prominent metop... |
OMIM:617746 |
| Pierpont Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Excessive wrinkling of palmar skin, Posteriorly rotate... |
ORPHA:487825 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Wi... |
ORPHA:2863 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Diastema, Cryptorchidism, Supernumerary tooth, Agenesis of molar, Anosmia, Microdontia, Anterior ... |
OMIM:619718 |
| Tetrasomy 5P |
|
Respiratory distress, Cyanosis, Posteriorly rotated ears, Anteverted nares, Micrognathia, Wide an... |
ORPHA:3309 |
| Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
| Van Maldergem Syndrome 1 |
|
Irregular dentition, Wide cranial sutures, Tented upper lip vermilion, Tracheomalacia, Micrognath... |
OMIM:601390 |
| Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Submucous cleft hard palate, Abs... |
OMIM:157170 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
| Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
| Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
| Williams-Beuren Region Duplication Syndrome |
|
Cerebellar vermis hypoplasia, Cutis marmorata, Decreased response to growth hormone stimulation t... |
OMIM:609757 |
| Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
| Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
| Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Open bite, Depressed na... |
ORPHA:1248 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Large posterior fontanelle, Anal atresia, Abnormal dental morphology, Abnormal dental enamel morp... |
ORPHA:85199 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliteration, Selective tooth agen... |
ORPHA:49042 |
| Neuralgic Amyotrophy |
|
Acrocyanosis, Cleft palate, Narrow mouth |
ORPHA:2901 |
| Amelogenesis Imperfecta |
|
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... |
ORPHA:88661 |
| Adenylosuccinate Lyase Deficiency |
|
Thin upper lip vermilion, Flat occiput, Anteverted nares, Brachycephaly, Low-set ears, Long philt... |
ORPHA:46 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Dandy-Walker malformation, Frontal bossing, Posteriorly rotated ears, Thick ... |
ORPHA:163961 |
| Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, Depressed nasal bridge, Doli... |
OMIM:617752 |
| Six2-Related Frontonasal Dysplasia |
|
Absent/hypoplastic paranasal sinuses, Posteriorly rotated ears, Depressed nasal bridge, Broad nas... |
ORPHA:488437 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Spontaneous neonatal pneumothorax, Delayed closure of the anterior fontanelle, Micrognathia, Fron... |
OMIM:225410 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Turricephaly, Choanal atresia, Aplasia/Hypoplasia of the cerebellum, Hypoplasia ... |
ORPHA:93262 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Apnea, Micrognathia, Tachypnea, Dilated th... |
ORPHA:397715 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Obtuse angle of mandible, Micrognathia, Wide anterior fontanel, High palate, Wormian bones, Malar... |
ORPHA:85184 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Micrognathia, Protruding ear, High palate, Short philtrum, Abnormal repetitive m... |
OMIM:618342 |
| Cornelia De Lange Syndrome 5 |
|
Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Micrognathia, Broad nasal tip, ... |
OMIM:300882 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Abnormal pinna morphology, Anteverted nares,... |
OMIM:217980 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Prominent nasal tip, Tented upper lip vermilion, Exaggerated cupid's bow, ... |
ORPHA:464738 |
| 2q33.1 deletion syndrome |
|
High palate, Cleft palate |
DECIPHER:51 |
| Atkin-Flaitz Syndrome |
|
Anteverted nares, Abnormality of the dentition, Broad nasal tip, Thick vermilion border, Everted ... |
ORPHA:1193 |
| Zellweger Syndrome |
|
Death in infancy, Depressed nasal bridge, Malabsorption, Micrognathia, Wide anterior fontanel, Py... |
ORPHA:912 |
| Van Maldergem Syndrome 2 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Anterio... |
OMIM:615546 |
| Orofaciodigital Syndrome Type 2 |
|
Apnea, Micrognathia, Tachypnea, Protruding ear, High palate, Conductive hearing impairment, Hamar... |
ORPHA:2751 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, De... |
OMIM:607812 |
| Branchiooculofacial Syndrome |
|
Micrognathia, Premature graying of hair, Conductive hearing impairment, Hypoplastic superior heli... |
OMIM:113620 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Anteverted nares, Depressed nasal bridge, Alobar holoprosencephaly, Hydrocephalu... |
OMIM:609637 |
| Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
Mandibular prognathia, Open bite, High palate, Dolichocephaly, Trigonocephaly, Midface retrusion,... |
ORPHA:168624 |
| Tooth Agenesis, Selective, 3 |
|
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia |
OMIM:604625 |
| Otodental Syndrome |
|
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Anteverted nares, Abn... |
ORPHA:2791 |
| Chromosome 22Q11.2 Duplication Syndrome |
|
Abnormal pinna morphology, Micrognathia, Velopharyngeal insufficiency, Depressed nasal ridge, Hig... |
OMIM:608363 |
| Trichothiodystrophy 2, Photosensitive |
|
Cutaneous photosensitivity, Agenesis of maxillary lateral incisor |
OMIM:616390 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Frontal bossing, Dental crowding, Partial agenesis of the corpus callosum, Brachycephaly, Plagioc... |
OMIM:617296 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Prematurely aged appearance, Micrognat... |
ORPHA:1387 |
| Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2026 |
| Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Camptodactyly of finger, Dep... |
ORPHA:1529 |
| Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Cleft palate, High palat... |
OMIM:246560 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... |
ORPHA:2325 |
| Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Cryptorchidism, Hydrocephalus, Pyloric stenosis, Abnormal location of ears, Brac... |
OMIM:218350 |
| Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Cutis marmorata, Gingival overgrowth, Evert... |
OMIM:614753 |
| Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Anteverted nares, P... |
OMIM:617751 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Alobar holoprosencephaly, Cryptorchidism, Brachycephaly, Plagiocephaly, High palate, Short philtr... |
OMIM:615433 |
| Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Bilateral cryptorchidism, Dysplastic corpus callosum, Celiac disease, Macrotia, Sensorineural hea... |
ORPHA:544488 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Turricephaly, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Micrognathia, Cryptorch... |
ORPHA:171839 |
| Marden-Walker Syndrome |
|
Anteverted nares, Micrognathia, Wide anterior fontanel, High, narrow palate, Pyloric stenosis, Cl... |
OMIM:248700 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Anteverted nares, Prominent nasal bridge, Underdevelo... |
OMIM:618825 |
| Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
| Fried Syndrome |
|
Abnormal cerebellum morphology, Hydrocephalus, High palate, Short philtrum, Macrotia, Thickened c... |
ORPHA:85335 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Smooth philtrum, Thin upper lip vermilion, Stapes ankylosis, Anteverted nares, Intestinal malrota... |
OMIM:614701 |
| Heart And Brain Malformation Syndrome |
|
Attached earlobe, Prominent metopic ridge, Posteriorly rotated ears, Camptodactyly of finger, Ant... |
OMIM:616920 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| W Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Submucous cleft hard palate, Agenesis of maxillary centr... |
ORPHA:2804 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Microtia, Short mandibular rami |
OMIM:141300 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus, Agenesis of cerebellar vermis, Partial absence of cerebe... |
OMIM:220200 |
| Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Congenital hip dislocation, Apnea, Delayed closure of the anterior fon... |
OMIM:619797 |
| Opitz Gbbb Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Abnormal nasopharynx morphology, Posteriorly rotated e... |
OMIM:300000 |
| Cornelia De Lange Syndrome 2 |
|
Thin upper lip vermilion, Ventriculomegaly, Anteverted nares, Prominent nasal bridge, Cutis marmo... |
OMIM:300590 |
| Anonychia With Flexural Pigmentation |
|
Carious teeth, Macular telangiectasia, Convex nasal ridge |
ORPHA:69125 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Absent tragus, Overfolded helix... |
ORPHA:79113 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia |
OMIM:183300 |
| Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
| Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Underf... |
OMIM:620107 |
| Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Genu recurvatum, Anteverted nares, Broad nasal tip, Thick lower... |
OMIM:300602 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Mandibular prognathia, Cerebellar vermis hypoplasia, Anterior pituit... |
OMIM:619841 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Lowry-Maclean Syndrome |
|
Short nasal bridge, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia ... |
ORPHA:2409 |
| Recon Progeroid Syndrome |
|
Attached earlobe, Prominence of the premaxilla, Dental crowding, Anteverted nares, Narrow nasal r... |
OMIM:620370 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Macroglossia, Wide anterior fontanel, Depressed nasal bridge |
OMIM:275100 |
| Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Cutis marmorata, Broad nasal tip, Dental ma... |
OMIM:619719 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
| Fibrochondrogenesis 1 |
|
Abnormal pinna morphology, Anteverted nares, Depressed nasal bridge, Wide anterior fontanel, Clef... |
OMIM:228520 |
| Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Bilateral conductive hearing impairment, Cl... |
OMIM:216300 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Attached earlobe, Low-set, posteriorly rotated ears, Anteverted nares, Dep... |
ORPHA:1327 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Posteriorly rotated ears, Narrow mouth, Cleft palate, Thin vermilion border, Low-set ears, Long p... |
OMIM:615502 |
| Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... |
OMIM:200990 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Prominent nasal bridge, Abnormality of the dentition, Carious teeth, Hearing abnormality, Promine... |
ORPHA:3270 |
| Neonatal Adrenoleukodystrophy |
|
Low-set, posteriorly rotated ears, Anteverted nares, Wide anterior fontanel, Sensorineural hearin... |
ORPHA:44 |
| Frontonasal Dysplasia 1 |
|
Median cleft lip, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Hypoplastic fronta... |
OMIM:136760 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Frontal bossing, Craniosynostosis, Micrognathia, Underdeveloped nasal alae, Dolichocephaly, Hydro... |
ORPHA:1516 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Death in infancy, Median cleft lip, Depressed nasal bridge, Micrognathia... |
OMIM:241800 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Retrognathia, High palate, Brachycephaly, Narrow mouth |
ORPHA:2528 |
| Craniosynostosis 2 |
|
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Metopic synostos... |
OMIM:604757 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent nose, Wide an... |
OMIM:614886 |
| Lujan-Fryns Syndrome |
|
Dental crowding, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Hypoplasia of the... |
ORPHA:776 |
| Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Micrognathia, Asthma, Tachypnea, Pneumothorax, Cl... |
ORPHA:2257 |
| Pierpont Syndrome |
|
Wide nose, Posteriorly rotated ears, Broad nasal tip, Cryptorchidism, Short nose, Brachycephaly, ... |
OMIM:602342 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Depressed nasal bridge, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermili... |
OMIM:617412 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Prominent nasal bridge, Camptodactyly of finger, Aggressive behavior, Hypoplasia of the maxilla, ... |
ORPHA:85279 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Telangiectasia of the skin, Abnormal dental enamel morphology, Sensori... |
ORPHA:3019 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Microretrognathia, Low-set, posteriorly rotated ears, Hamartoma of tong... |
ORPHA:434179 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Hip osteoarthritis, Hypodontia |
ORPHA:63442 |
| X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Cupped ear, Short philtrum, Macrotia |
ORPHA:93945 |
| Acromelic Frontonasal Dysplasia |
|
Encephalocele, Median cleft lip, Anterior pituitary hypoplasia, Broad nasal tip, Bifid nasal tip,... |
ORPHA:1827 |
| Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Flat occiput, Dental crowding, Hypoplasia of the maxilla, Brachycephaly, H... |
OMIM:614188 |
| Anauxetic Dysplasia 3 |
|
Depressed nasal bridge, Wide anterior fontanel, Genu valgum, Oligodontia, Retrognathia, Hip sublu... |
OMIM:618853 |
| Apert Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Conductive hearing impairment, Agenesis of corp... |
ORPHA:87 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Abnormal pinna morphology, Depressed nasal bridge, Choanal atresia, Wide anterior fontanel, Humer... |
OMIM:207410 |
| 2Q32Q33 Microdeletion Syndrome |
|
Dental crowding, Anteverted nares, Prominent nasal bridge, Micrognathia, Convex nasal ridge, Brac... |
ORPHA:251019 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Genu recurvatum, Posteriorly rotated ears, Craniosynostosis, Micrognathia, Hypoplasia of the maxi... |
OMIM:182212 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Protruding ear, Smooth philtru... |
OMIM:618737 |
| Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
| Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
| Trichodentoosseous Syndrome |
|
Frontal bossing, Taurodontia, Widely spaced teeth, Dolichocephaly, Microdontia |
OMIM:190320 |
| Carey-Fineman-Ziter Syndrome 2 |
|
Thin upper lip vermilion, Dental crowding, Posteriorly rotated ears, Anteverted nares, Micrognath... |
OMIM:619941 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly |
ORPHA:171703 |
| Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
| Filippi Syndrome |
|
Underdeveloped nasal alae, Low hanging columella, Wide nasal bridge, Thin vermilion border, Short... |
OMIM:272440 |
| Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Death in infancy, Ventriculomegaly, Micrognathia, Recurrent pneumonia, Protruding ear, Narrow mou... |
ORPHA:1495 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Flat occiput, Micrognathia, Brachycephaly, Downturned corners of mouth, High palate, Anteverted n... |
OMIM:613792 |
| Cebalid Syndrome |
|
Turricephaly, Posteriorly rotated ears, Abnormal pinna morphology, Anteverted nares, Depressed na... |
OMIM:618774 |
| 20P13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Posteriorly rotated ears, Abnormal pinna mo... |
ORPHA:313781 |
| 8Q22.1 Microdeletion Syndrome |
|
Underfolded helix, Camptodactyly of finger, Craniosynostosis, Abnormality of the dentition, Hypop... |
ORPHA:178303 |
| Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Hyperplasia of the maxilla |
OMIM:618383 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy... |
OMIM:604213 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Posteriorly rotated ears, Anteverted nares, Wide mouth, Delayed eruption... |
OMIM:618506 |
| Coffin-Siris Syndrome 6 |
|
Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Broad nasal tip, High, narrow pal... |
OMIM:617808 |
| Ritscher-Schinzel Syndrome 3 |
|
Thin upper lip vermilion, Death in infancy, Anteverted nares, Micrognathia, Wide anterior fontanel |
OMIM:619135 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Neonatal respiratory distress, Posteriorly rotated ears, Anteverted nares, Micrognathia, Protrudi... |
OMIM:214100 |
| 17P13.3 Microduplication Syndrome |
|
Frontal bossing, Wide nose, High palate, Low-set ears, Narrow mouth, Short nose, Ventriculomegaly |
ORPHA:217385 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bridg... |
ORPHA:2180 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Wide cranial sutures, Dental crowding, Micrognathia, Hypoplasia of the... |
OMIM:257850 |
| Opitz-Kaveggia Syndrome |
|
Dental crowding, Micrognathia, Prominent nose, Anteriorly placed anus, Simple ear, Cleft upper li... |
OMIM:305450 |
| Acrofrontofacionasal Dysostosis 2 |
|
Wide nose, Posteriorly rotated ears, Wide anterior fontanel, High palate, Low-set ears, Overfolde... |
OMIM:239710 |
| Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Genu recurvatum, Camptodactyly of f... |
ORPHA:915 |
| Dubowitz Syndrome |
|
Micrognathia, Rectal prolapse, Protruding ear, High palate, Spina bifida occulta, Low-set, poster... |
ORPHA:235 |
| Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Depressed nasal bridge, Micrognathia, Progressive hearing impairment, ... |
OMIM:613849 |
| 48,Xxyy Syndrome |
|
Delayed eruption of teeth, Broad jaw, Flat occiput, Apnea, Abnormal dental enamel morphology, Car... |
ORPHA:10 |
| Gapo Syndrome |
|
Prominent scalp veins, Anteverted nares, Depressed nasal bridge, Delayed closure of the anterior ... |
OMIM:230740 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Thin vermilion border, Short philtrum, Premature loss of teeth, Convex... |
OMIM:156510 |
| Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Cerebellar vermis hypoplasia, Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia, Hy... |
ORPHA:459061 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Abnormal pinna morphology, Micrognathia, Recurrent upper respiratory tr... |
ORPHA:3078 |
| Auriculocondylar Syndrome 1 |
|
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Apnea, Micrognath... |
OMIM:602483 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Anal atresia |
ORPHA:93950 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Anteverted nares, Cleft upper lip, Bulbous nose, Wide nasal bridge, Cleft palate, Brachycephaly, ... |
OMIM:300958 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Brachycephaly, Cleft palate, Plagiocephaly, High palate, Tooth malposition, Agenesis of corpus ca... |
OMIM:618603 |
| Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Frontal bossing, Abnormal pinna morphology, An... |
OMIM:614175 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Broad nasal tip, Abnormality of the dentition |
ORPHA:2776 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... |
ORPHA:2521 |
| Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Gingival overgrowth, Wide nasal bridge, Downturned corners of... |
OMIM:618729 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Prominent nasal bridge, Sensorineural hearing impairment, Short philtr... |
ORPHA:71267 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Mandibular prognathia, Thick lower lip vermilion, Brachycephaly, Wide mouth, Thick upper lip verm... |
OMIM:309545 |
| Fetal Akinesia Deformation Sequence 4 |
|
Posteriorly rotated ears, Micrognathia, Wide nasal bridge, High palate, Prenatal death, Low-set e... |
OMIM:618393 |
| Crouzon Syndrome |
|
Mandibular prognathia, Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hypoplasia of... |
OMIM:123500 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Increased CSF protein concentration, Hypoplasia of the maxilla, Wide nasal bridge, Brachycephaly,... |
OMIM:218000 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Anteriorly placed anus, Thickened helices, Cloverleaf skull, Anteverted nar... |
ORPHA:1555 |
| 20P12.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Microtia, Narrow mouth, Thi... |
ORPHA:261295 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Joint dislocation, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Abnormality of th... |
ORPHA:502 |
| 14Q11.2 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Exaggerated cupid's bow, Depressed nasal bridge, Micrognathia,... |
ORPHA:261120 |
| Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, Mac... |
OMIM:615574 |
| Potocki-Shaffer Syndrome |
|
Prominent nasal bridge, Broad nasal tip, Micrognathia, Underdeveloped nasal alae, Parietal forami... |
ORPHA:52022 |
| Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Osteoarthritis, Sensorineural hearing impairment, Cleft palate, Long p... |
ORPHA:90653 |
| Snijders Blok-Campeau Syndrome |
|
Frontal bossing, Prominent nose, Wide nasal bridge, Taurodontia, High palate, Widely spaced teeth... |
OMIM:618205 |
| Nance-Horan Syndrome |
|
Mandibular prognathia, Prominent nasal bridge, Abnormality of the dentition, Prominent nose, Supe... |
ORPHA:627 |
| Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormality of the philtrum, Abnormal oral mucosa morphology, Hypoplasia o... |
ORPHA:2673 |
| Raine Syndrome |
|
Mandibular prognathia, Micrognathia, Brachycephaly, Protruding ear, High palate, Choanal stenosis... |
OMIM:259775 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Thin upper lip vermilion, Death in infancy, Neonatal respiratory distress, ... |
OMIM:615042 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormality of the dentition, Hydrocephalus, Gingivitis, Periodontitis, Hearing impairment |
ORPHA:1008 |
| Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... |
OMIM:601216 |
| Edinburgh Malformation Syndrome |
|
U-Shaped upper lip vermilion, Death in infancy, Hydrocephalus, Jaundice |
OMIM:129850 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Intermittent hyperventilation, Prominent nasal bridge, Micrognathia, Br... |
OMIM:300749 |
| Ritscher-Schinzel Syndrome 1 |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Micrognathia, Hydr... |
OMIM:220210 |
| Holoprosencephaly 7 |
|
Flat occiput, Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hypoplastic nasa... |
OMIM:610828 |
| Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Choanal stenosis, Malar flattenin... |
OMIM:241310 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Flat occiput, Anteriorly placed anus, High palate, Choanal stenosis, Agenes... |
OMIM:123790 |
| Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
| Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Glossoptosis, Chronic otitis... |
ORPHA:1452 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Large posterior fontanelle, Abnormal pinna morphology, Depressed nasal bridge, Hamar... |
OMIM:617925 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
| Pontocerebellar Hypoplasia, Type 3 |
|
Cerebellar atrophy, Depressed nasal bridge, Hypoplasia of the pons, High, narrow palate, Brachyce... |
OMIM:608027 |
| Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
| Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, A... |
ORPHA:293939 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Wide nasal bridge, Protruding ear |
OMIM:618302 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Frontal bossing, Tented upper lip vermilion, Anteverted nares, Depressed n... |
ORPHA:819 |
| Laron Syndrome |
|
Delayed eruption of teeth, Hypoplastic nasal bridge, Aplasia/Hypoplasia involving the nose, Prema... |
ORPHA:633 |
| Cerebrooculonasal Syndrome |
|
Cerebellar vermis hypoplasia, Brachycephaly, Downturned corners of mouth, High palate, Conductive... |
OMIM:605627 |
| Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Mic... |
OMIM:179613 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... |
OMIM:616331 |
| Zimmermann-Laband Syndrome |
|
Wide nose, Micrognathia, Supernumerary tooth, Sensorineural hearing impairment, Bulbous nose, Gin... |
ORPHA:3473 |
| Perlman Syndrome |
|
Posteriorly rotated ears, Anteverted nares, Micrognathia, Cryptorchidism, High, narrow palate, Sh... |
ORPHA:2849 |
| Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
| Saul-Wilson Syndrome |
|
Narrow nasal bridge, Prominent superficial veins, Progeroid facial appearance, Micrognathia, Wide... |
OMIM:618150 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Turricephaly, Craniosynostosis, Micrognathia, Brachycephaly, Cleft palate, Abnormal antihelix mor... |
ORPHA:2145 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Everted upper lip vermilion, Abnormality of the dentition, Velopharyngeal ... |
OMIM:182290 |
| Restrictive Dermopathy 2 |
|
Microretrognathia, Respiratory distress, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Con... |
OMIM:619793 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus, Abnormality of the ear |
OMIM:600257 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal radio-ulnar synostosis, Abnormal spaced incisors, Tarsal synostosis, Micrognathia, Hypop... |
ORPHA:363417 |
| Acrofacial Dysostosis, Palagonia Type |
|
Posteriorly rotated ears, Micrognathia, High, narrow palate, Supernumerary tooth, Bulbous nose, O... |
ORPHA:1787 |
| Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia, Wormian bones, Congenital hip dislocation |
OMIM:614450 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Prominent nasal tip, Anteverted nares, Depressed nasal bridge, Micrognathia, Deep philtrum, Wide ... |
OMIM:615834 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Anteverted nares, Apnea, Depressed nasal bridge, Wide anterior fontanel, Large fontanelles |
OMIM:614883 |
| Even-Plus Syndrome |
|
Bifid nasal tip, Dysplastic corpus callosum, Depressed nasal ridge, Brachycephaly, Microtia, High... |
OMIM:616854 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Wide nose, Tracheomalacia, Micrognathia, Conductive hearing impairment, Agl... |
OMIM:202650 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Frontal bossing, Agenesis of cerebellar vermis, Anteverted nares, Depressed nasal ... |
ORPHA:228390 |
| Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Hydrocephalus, Bifid uvula, Cleft palate |
OMIM:258320 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Olivopon... |
ORPHA:370959 |
| Nager Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Abnormal nasal morpho... |
ORPHA:245 |
| Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Respiratory distress, Depressed nasal bridge, Short ... |
ORPHA:166272 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Mandibular prognathia, Prominent metopic ridge, Cleft palate, Protruding ear, Short philtrum |
ORPHA:85317 |
| Aicardi Syndrome |
|
Prominence of the premaxilla, Cerebellar vermis hypoplasia, Anteverted nares, Spina bifida, Hiatu... |
OMIM:304050 |
| 3Mc Syndrome 2 |
|
Prominence of the premaxilla, Prominent nasal bridge, Craniosynostosis, Limited elbow movement, C... |
OMIM:265050 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Hyperactivity, Crowded maxillary incisors |
ORPHA:397973 |
| Monosomy 18P |
|
Micrognathia, Carious teeth, Wide nasal bridge, Cleft palate, Protruding ear, Downturned corners ... |
ORPHA:1598 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Mandibular prognathia, Anteverted nares, Sensorineural hearing impairment, Depressed nasal ridge,... |
OMIM:618672 |
| Cofs Syndrome |
|
Death in infancy, Prominent metopic ridge, Camptodactyly of finger, Micrognathia, Abnormal nasal ... |
ORPHA:1466 |
| Zaki Syndrome |
|
Dilated fourth ventricle, Wide nose, Cerebellar vermis hypoplasia, Anteverted nares, Micrognathia... |
OMIM:619648 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Cutis marmorata, Ventriculomegaly |
OMIM:615937 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Prominent nasal bridge |
OMIM:300676 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Macrodontia, Short nose, High palate |
OMIM:300577 |
| Mpdu1-Cdg |
|
Wide anterior fontanel, Thin vermilion border, Absence of acoustic reflex, Prominent frontal sinuses |
ORPHA:79323 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Craniosynostosis, Brachycephaly, Thickened calvaria, Hearing impairment |
ORPHA:178377 |
| Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Microretrognathia, Cerebellar vermis hypoplasia, Aganglionic megacolon,... |
ORPHA:171680 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Intestinal malrotation, Depressed nasal bridge, Broad nasal tip, Wide a... |
OMIM:222448 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Wide nose, Craniosynostosis, Persistence of primary teeth, Erythema, Recurrent pneumonia, High pa... |
OMIM:147060 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Persistent open anterior fontanelle, Congenital hip dislocation, Prominent nasal bridge, Progeroi... |
ORPHA:357058 |
| Edinburgh Malformation Syndrome |
|
Frontal bossing, Anteverted nares, Choanal atresia, Micrognathia, Hydrocephalus, Respiratory insu... |
ORPHA:1895 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cryptorchidism, Hydrocephalus, Asthma, Brachycephaly, Plagiocephaly, Dilated third ventricle, Ven... |
ORPHA:500055 |
| Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
| Toriello-Carey Syndrome |
|
Neonatal respiratory distress, Aganglionic megacolon, Abnormal pinna morphology, Micrognathia, Wi... |
ORPHA:3338 |
| Treacher Collins Syndrome 4 |
|
Respiratory failure requiring assisted ventilation, Micrognathia, Cleft palate, Choanal stenosis,... |
OMIM:618939 |
| Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Wide cranial sutures, Aggressive behavior, Dental malocclusion, Overfol... |
OMIM:619149 |
| German Syndrome |
|
Depressed nasal bridge, Micrognathia, Cryptorchidism, Hearing abnormality, Wide nasal bridge, Oro... |
ORPHA:2077 |
| Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Bulbous nose, Tongue nodules, Low-set ears, Microdontia, Bifid tongue, Bifid... |
OMIM:258850 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Diastema, Deep philtrum, Talon cusp, Cleft palate, Radioulnar synostosis, Bila... |
OMIM:605282 |
| Craniosynostosis 3 |
|
Sagittal craniosynostosis, Dental malocclusion, Left unicoronal synostosis, Right unicoronal syno... |
OMIM:615314 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Dental crowding, Anteverted nares, Depressed nasal bridge, Micrognathia... |
OMIM:615761 |
| Acrootoocular Syndrome |
|
Delayed eruption of teeth, Grayish enamel, Micrognathia, High, narrow palate, Supernumerary tooth... |
ORPHA:2980 |
| Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Cholesteatoma |
OMIM:614113 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Aggressive behavior, Wide anterior fontanel... |
ORPHA:457279 |
| Microtia With Meatal Atresia And Conductive Deafness |
|
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment |
OMIM:251800 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Anteverted nares, Cutis marmorata, Protruding tongue, Cryptorchidism, Hydrocephalus, Sensorineura... |
OMIM:612938 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor, Low-set ears |
OMIM:620062 |
| Polyrrhinia |
|
Abnormal third ventricle morphology, Abnormal nasal bone morphology, Abnormal external nose morph... |
ORPHA:141091 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Low-set, posteriorly rotated ears, Tarsal synostosis, Prominent nasal bridge, ... |
ORPHA:1307 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Flat occiput, Abnormal pinna morphology, Prominent nasal bridge, Crypto... |
OMIM:617452 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Oligodontia, Supernumerary tooth, Abnormality of the dentition |
ORPHA:1264 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
| Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Small anterior font... |
OMIM:617802 |
| Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Delayed eruption of primary teeth,... |
ORPHA:763 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Cerebellar atrophy, Thin upper lip vermilion, Dandy-Walker malformation, Depressed nasal bridge, ... |
ORPHA:438178 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Respiratory distress, Tented upper lip vermilion, Anteverted nares, Flat occ... |
OMIM:619383 |
| Aminopterin Syndrome Sine Aminopterin |
|
Frontal bossing, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Brachycephaly, Cleft pal... |
OMIM:600325 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Microphthalmia With Limb Anomalies |
|
Low-set, posteriorly rotated ears, Death in infancy, Macrodontia, Hypoplasia of the premaxilla, T... |
ORPHA:1106 |
| Temple Syndrome |
|
Frontal bossing, Wide nose, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, M... |
OMIM:616222 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Esophageal stricture, Sensorineural hearing impairment, Asthma, Hypodo... |
OMIM:616029 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Cloverleaf skull, Depressed nasal bridge, Intestinal malrotation, Choanal a... |
ORPHA:93259 |
| Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Wide nose, Hyperactivity, Abnormal pinna morphology, Anteverted nares,... |
OMIM:614607 |
| Trisomy 4P |
|
Smooth philtrum, Low-set, posteriorly rotated ears, Depressed nasal bridge, Camptodactyly of fing... |
ORPHA:1738 |
| Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Micrognathia, Brachycephaly, High palate, Abnormal helix morphology, Low-... |
ORPHA:1913 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Anteverted nares, Carious teeth, Cryptorchidism, Hydrocephalus... |
ORPHA:2701 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Telangiectasia, Livedo, Conical incisor, Facial telangiectasia, Enamel hypoplasia,... |
OMIM:614564 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Flat occiput, Posteriorly rotated ears, Micrognathia,... |
ORPHA:2780 |
| Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Pursed lips, Camptodactyly of finger, Cleft lip, Elbow flexion contracture, Clef... |
OMIM:619110 |
| Parc Syndrome |
|
Cleft palate |
OMIM:600331 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Genu recurvatum, Camptodactyly of finger, Depre... |
ORPHA:137834 |
| Fibrochondrogenesis |
|
Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Wide anterior fontanel, Hearin... |
ORPHA:2021 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... |
ORPHA:2919 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Mandibular condyle hypoplasia, Dislocated radial head, Hypoplasia of the premaxilla, Micrognathia |
ORPHA:2975 |
| Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
| Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Intestinal malrotation, Depressed nasal bridge, Wide anterior fontanel,... |
ORPHA:2143 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Tented upper lip vermilion, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, M... |
OMIM:614744 |
| Peho-Like Syndrome |
|
Cerebellar atrophy, Ventriculomegaly, Open mouth, Retrognathia, Short nose |
OMIM:617507 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Depressed nasal bridge, High, narrow palate, Hydrocephalus, Sensorineural hearing impairment, Chi... |
OMIM:619575 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypoplasia of the maxilla, Carious ... |
ORPHA:50814 |
| Potocki-Shaffer Syndrome |
|
Turricephaly, Underdeveloped nasal alae, Parietal foramina, Wide nasal bridge, Brachycephaly, Dow... |
OMIM:601224 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Prominent nose, Thick nas... |
ORPHA:293725 |
| Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Broad nasal tip... |
OMIM:249420 |
| Developmental And Epileptic Encephalopathy 36 |
|
Microretrognathia, Hydrocephalus, Anteverted nares, Low-set ears |
OMIM:300884 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Depressed nasal bridge, Micro... |
ORPHA:404440 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Micrognathia, Cleft hard palate, Broad nasal tip, Knee flexion contracture, Genu valgum, Fixed el... |
ORPHA:166016 |
| Hydrolethalus Syndrome 2 |
|
Micrognathia, Hydrocephalus, Anencephaly, Cleft palate, Agenesis of corpus callosum, Ventriculome... |
OMIM:614120 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Depressed nasal bridge, Cryptorchidism, Bulbous nose, Wide nasal bridge, B... |
ORPHA:369891 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Bro... |
ORPHA:438216 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology |
ORPHA:2703 |
| Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Cranioectodermal Dysplasia |
|
Frontal bossing, Anteverted nares, Abnormal dental enamel morphology, Craniosynostosis, Abnormali... |
ORPHA:1515 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Wide anterior fontanel, Wide nasal bridge, Low-set ears |
OMIM:614859 |
| Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Depressed nasal ridge, Hypodontia |
ORPHA:1816 |
| Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Persistent open anterior fontanelle, Abnormal dental enamel morphology, Abno... |
ORPHA:1798 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Posteriorly rotated e... |
OMIM:620001 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis |
OMIM:302000 |
| Congenital Disorder Of Glycosylation, Type Iiy |
|
Agenesis of corpus callosum, Brachycephaly, Ventriculomegaly |
OMIM:620200 |
| Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Dental malocclusion, Large earlobe, Short columella, Short nose |
OMIM:155050 |
| Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... |
OMIM:609166 |
| Pycnodysostosis |
|
Persistent open anterior fontanelle, Delayed eruption of primary teeth, Persistence of primary te... |
OMIM:265800 |
| Pfeiffer Syndrome |
|
Mandibular prognathia, Cloverleaf skull, Dental crowding, Depressed nasal bridge, Choanal atresia... |
OMIM:101600 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Thin upper lip vermilion, Slender nose, Micrognathia, Cryptorchidism, Brachycephaly, Wide mouth, ... |
OMIM:615419 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Mixed hearing impairment, Abnormal nasopharynx morphology, Wide nasal brid... |
OMIM:218400 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Genu recurvatum, Uplifted earlobe, Aggressive behavior, Narrow palate, Sho... |
ORPHA:364028 |
| Osteoglosphonic Dysplasia |
|
Anteverted nares, Choanal atresia, Craniosynostosis, Micrognathia, Protruding ear, Tooth agenesis... |
ORPHA:2645 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Thin upper lip vermilion, Anteverted nares, Uplifted earlobe, Micrognathia, Broad nasal tip, Wide... |
OMIM:618548 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Dislocated radial head, Vertebral fusi... |
OMIM:268310 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Respiratory distress, Aplasia/Hypoplasia involving the nose, A... |
ORPHA:990 |
| Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cerebellar vermis hypoplasia, Apnea, Decreased CSF serine concentration, Decrea... |
OMIM:610992 |
| Nance-Horan Syndrome |
|
Prominent nasal bridge, Prominent nose, Diastema, Screwdriver-shaped incisors, Mulberry molar, Su... |
OMIM:302350 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Brachycephaly, Anteriorly placed a... |
OMIM:619148 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
| Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Brachycephaly, ... |
OMIM:619995 |
| Ring Chromosome 8 Syndrome |
|
Frontal bossing, Anteverted nares, Round ear, Short nose, Abnormal palate morphology |
ORPHA:1450 |
| Acalvaria |
|
Spina bifida, Hydrocephalus, Cleft palate, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellu... |
ORPHA:945 |
| Transaldolase Deficiency |
|
Depressed nasal bridge, Wide anterior fontanel, Deep philtrum, Asthma, Telangiectasia, Wide mouth... |
OMIM:606003 |
| Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus |
|
Open bite, Dental crowding, Hyperplasia of the maxilla |
OMIM:613671 |
| Gorlin Syndrome |
|
Mandibular prognathia, Frontal bossing, Carious teeth, Cryptorchidism, Hydrocephalus, Wide nasal ... |
ORPHA:377 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Depressed nasal bridge, Craniosynostosis, Bilateral cr... |
ORPHA:314575 |
| Mend Syndrome |
|
Hyperactivity, Prominent nasal bridge, Abnormal auditory evoked potentials, Asymmetry of the mout... |
ORPHA:401973 |
| Skraban-Deardorff Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Absent cupid's bow, Cleft palate, Widely ... |
OMIM:617616 |
| Auriculocondylar Syndrome |
|
Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, M... |
ORPHA:137888 |
| Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Anteverted ears, Aplasia of the inner ear, Widely spaced teeth, Peg-... |
OMIM:610706 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Pulmonary arterial hypertension, Wide anterior fontanel, Death in infancy, Death in childhood |
OMIM:619064 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
| Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Multiple pterygia, Micrognathia |
OMIM:601809 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Dental enamel pits |
OMIM:619787 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Death in infancy, Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia, L... |
OMIM:616901 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Mandibular prognathia, Frontal bossing, Broad nasal tip, Scaphocephaly, Recurrent pneumonia, High... |
OMIM:615637 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Frontal bossing, Everted upper lip vermilion, Depressed nasal ridge, E... |
ORPHA:181 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Prominent nose, Anteverted ears, Aggressive behavior, Dental malocclusion, Macroti... |
OMIM:615541 |
| Bloom Syndrome |
|
Prominent nose, Cryptorchidism, Recurrent upper respiratory tract infections, Bronchiectasis, Age... |
OMIM:210900 |
| Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Underfolded helix, Cutis marmorata, Thick lower lip v... |
OMIM:157980 |
| Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Abnormal antihelix morphology, Abnormal oral frenulu... |
ORPHA:952 |
| Distal Deletion 12Q |
|
Micrognathia, High, narrow palate, Self-mutilation, Hyperactivity, Anteverted nares, Wide anterio... |
ORPHA:96149 |
| Choanal Atresia |
|
Respiratory distress, Cyanosis, Craniosynostosis, Upper airway obstruction, Nasal congestion, Cho... |
ORPHA:137914 |
| 6Q25 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Micrognathia, Sensorineural hearing... |
ORPHA:251056 |
| Dentin Dysplasia |
|
Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Thin upper lip vermilion, Dental crowding, Underdeveloped nasal alae, Supernumerary tooth, Protru... |
OMIM:190351 |
| Muenke Syndrome |
|
Sensorineural hearing impairment, Dental malocclusion, Brachycephaly, Plagiocephaly, High palate,... |
OMIM:602849 |
| Duplication Of The Pituitary Gland |
|
Encephalocele, Supernumerary tooth, Abnormal pituitary gland morphology, Abnormality of the tongu... |
ORPHA:314621 |
| Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
| Acrocraniofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Anteverted nares, Craniosynostosis,... |
ORPHA:949 |
| Smith-Kingsmore Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Wide anterior fontanel, Short nose, Wide mouth,... |
OMIM:616638 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Glutamine Deficiency, Congenital |
|
Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Apnea, Erythema, Wide na... |
OMIM:610015 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation |
OMIM:264270 |
| Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
| Craniosynostosis 6 |
|
Cerebellar atrophy, Bicoronal synostosis, Turricephaly, Craniosynostosis, Parietal foramina, Sens... |
OMIM:616602 |
| Coffin-Siris Syndrome 11 |
|
Prominent metopic ridge, Depressed nasal bridge, Cleft soft palate, Uplifted earlobe, Esophageal ... |
OMIM:618779 |
| Keipert Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Prominent nasal brid... |
ORPHA:2662 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Aganglionic megacolon, Hydrocephalus, Partial agenesis of the corpus callosum, High palate, Cereb... |
OMIM:304100 |
| Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Thick nasal a... |
ORPHA:420561 |
| Rapp-Hodgkin Syndrome |
|
Depressed nasal bridge, Conical tooth, Hypoplasia of the maxilla, Carious teeth, Velopharyngeal i... |
OMIM:129400 |
| Birk-Barel Syndrome |
|
Microretrognathia, Reduced subcutaneous adipose tissue, Tented upper lip vermilion, High palate, ... |
OMIM:612292 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Wide anterior fontanel, Respiratory failure, Death in infancy |
OMIM:618240 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Prominent nose, Carious teeth, Hip dislocation, Large fl... |
OMIM:203550 |
| Anti-Glomerular Basement Membrane Disease |
|
Persistence of primary teeth, Respiratory insufficiency, Arthritis, Cough, Purpura |
ORPHA:375 |
| Achondroplasia |
|
Short nasal bridge, Anteverted nares, Depressed nasal bridge, Hip joint hypermobility, Wide anter... |
ORPHA:15 |
| Pineocytoma |
|
Hearing abnormality, Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Frontal bossing, Posteriorly rotated ears, Anteverted nares, Micrognath... |
OMIM:613604 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Anal atresia, Frontal bossing, Tented upper lip vermilion, Dental crowding, Posteriorly rotated e... |
OMIM:612582 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Progeroid facial appearance, Hypoplasia of the maxilla, Sensorineural hearing impairment, Genu va... |
OMIM:608154 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Coffin-Siris Syndrome 3 |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Cleft palate, Wide mouth, Macroglossia, Dela... |
OMIM:614608 |
| 49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Depressed nasal bridge, Abnormal den... |
ORPHA:96264 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Prominent nose, 4-5 meta... |
OMIM:268305 |
| Apert Syndrome |
|
Mandibular prognathia, Brachycephaly, Chiari type I malformation, Choanal stenosis, Chronic otiti... |
OMIM:101200 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Micrognathia, Head-banging, Delayed eruption of permanent teeth, Narrow mouth, ... |
OMIM:619356 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Microretrognathia, Hip contracture, Hearing impairment, Micrognathia, Cari... |
OMIM:618363 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Cerebellar atrophy, Wide nose, Respiratory distress, Wide nasal bridge, Promin... |
ORPHA:89844 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Microretrognathia, Congenital hip dislocation, Cyanosis, Sudden episodic apnea, Intermittent epis... |
ORPHA:98914 |
| Congenital Myasthenic Syndrome |
|
Microretrognathia, Congenital hip dislocation, Cyanosis, Sudden episodic apnea, Intermittent epis... |
ORPHA:590 |
| Hypophosphatasia, Childhood |
|
Carious teeth, Premature loss of primary teeth, Craniosynostosis |
OMIM:241510 |
| Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Restlessness |
OMIM:300266 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Narrow nasal bridge, Abnormal zygomatic bone morphology, Hearing abnormali... |
ORPHA:2511 |
| Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Death in infancy, Macrotia, Agitation |
OMIM:272300 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Camptodactyly of finger, Micrognathia, Abnormality of the dentition, Supernumerary tooth, Bulbous... |
ORPHA:77258 |
| Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Anteverted nares, Cleft upper lip, Cryptorchidism, Sensorineural hearin... |
OMIM:243310 |
| Odontomicronychial Dysplasia |
|
Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Ectodermal dysplasi... |
ORPHA:1811 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Depressed nasal bridge, Craniosynostosis, Ankle flexion contracture, Micrognathia, Knee flexion c... |
ORPHA:284417 |
| Treacher Collins Syndrome 3 |
|
Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair... |
OMIM:248390 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia |
OMIM:615771 |
| Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Prominent nasal bridge, Abnormality of the den... |
ORPHA:2712 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Sagittal craniosynostosis, Dandy-Walker malformation |
OMIM:123155 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Hydrocephalus, High palate, O... |
OMIM:300558 |
| Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Conductive hearing impairment, Velopharyngeal insufficiency, No... |
ORPHA:199302 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle dilatation, C... |
OMIM:613154 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia |
OMIM:226650 |
| Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Genu valgum, Short p... |
OMIM:619142 |
| Wrinkly Skin Syndrome |
|
Microretrognathia, Delayed eruption of teeth, Smooth philtrum, Congenital hip dislocation, Delaye... |
OMIM:278250 |
| Stickler Syndrome, Type Ii |
|
Arthropathy, Anteverted nares, Depressed nasal bridge, Micrognathia, High, narrow palate, Sensori... |
OMIM:604841 |
| Holzgreve Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:236110 |
| Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Micrognathia, Broad nasal tip, Wide nasal bridge, Cleft palate, Neonatal ... |
OMIM:615524 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Abnormal soft palate morph... |
ORPHA:884 |
| Hydrolethalus |
|
Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Hydrocephalus, Submucous cleft h... |
ORPHA:2189 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Thin upper lip vermilion, Wide nose, Flat occiput, Prominent nasal bridge, Cryptorchidism, Macrot... |
ORPHA:505237 |
| Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Midface retrusion, Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosy... |
ORPHA:1790 |
| Distal Duplication 18Q |
|
Low-set, posteriorly rotated ears, Abnormal dental morphology, Anteverted nares, Choanal atresia,... |
ORPHA:1716 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Cyanosis, Micrognathia, Wide nasal bridge, Protruding ear, Hypoplastic ... |
ORPHA:3304 |
| Adducted Thumbs Syndrome |
|
Craniosynostosis, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, Respiratory in... |
OMIM:201550 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Dental crowding, Anteverted nares, Sensorineural hearing impairment, B... |
OMIM:616354 |
| Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Anteriorly placed anus, Oligodontia, Co... |
OMIM:612289 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Posteriorly rotated ears, Cleft soft palate, Anteverted nares, Micrognathia, Abnormality of the d... |
OMIM:618529 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress, Micrognathia, Abnormality of the gingiva, Anteriorly placed anus, High pala... |
ORPHA:798 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Depressed nasal bridge, Micrognathia, Macrotia, Brachycephaly, High palate, Dimple chin, Low-set ... |
OMIM:618142 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Joint dislocation, Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Abn... |
ORPHA:3201 |
| Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Micrognathia, Brachycephaly, Short nose, Spina bifida occulta |
ORPHA:1514 |
| Ogden Syndrome |
|
Large posterior fontanelle, Congenital hip dislocation, Apnea, Micrognathia, Deep philtrum, Protr... |
OMIM:300855 |
| Cohen Syndrome |
|
Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Cubitus valgus, High, narrow pal... |
OMIM:216550 |
| Atelosteogenesis, Type Iii |
|
Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Flat acetabul... |
OMIM:108721 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Frontal bossing, Dental crowding, Poor wound healing, Narrow mouth, Brachycephaly, Protruding ear... |
OMIM:615539 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Broad nasal tip, Low hanging colu... |
OMIM:620157 |
| Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Carious teeth, Abnormality of the dentition, Genu varum |
ORPHA:2501 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Persistence of primary teeth, Supernumerary tooth, Recurrent upper respiratory tract infections, ... |
OMIM:619752 |
| Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Patellar apl... |
OMIM:613805 |
| Muenke Syndrome |
|
High, narrow palate, Hydrocephalus, Sensorineural hearing impairment, Brachycephaly, Plagiocephal... |
ORPHA:53271 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Wormian bones, Concave nasal ridge, Dentinogenesis imperfecta |
ORPHA:166277 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Narrow nasal bridge, Thin upper lip vermilion, Hyperactivity, Dental crowding, Prominent nasal br... |
OMIM:309520 |
| Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Bilateral cryptorchidism, Broad n... |
OMIM:613544 |
| Auriculocondylar Syndrome 3 |
|
Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ... |
OMIM:615706 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Frontal bossing, Depressed nasal bridge, Abnormal dental enamel morphology, Supernumerary nipple,... |
ORPHA:1812 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Posteriorly rotated ears, Decreased response to growth hormone stimula... |
OMIM:615866 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Low-set, posteriorly rotated ears, Contracture of the proximal interphalangeal joint of the 2nd f... |
ORPHA:2872 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Increased circulating free fatty acid level |
ORPHA:293964 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Campomelic Dysplasia |
|
Respiratory distress, Irregular dentition, Apnea, Micrognathia, Depressed nasal ridge, Patellar h... |
OMIM:114290 |
| Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Wide nasal bridge, Downturned corners of mouth, Wide mouth, Everted low... |
OMIM:618067 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Neonatal respiratory distress, Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Shor... |
OMIM:618828 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Hydrocephalus, Sensorineural hear... |
OMIM:109120 |
| Restrictive Dermopathy 1 |
|
Natal tooth, Prominent superficial blood vessels, Depressed nasal bridge, Choanal atresia, Narrow... |
OMIM:275210 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress, Micrognathia, Upper airway obstruction, High palate, Hypodontia, Low-set ea... |
OMIM:612776 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Cerebellar atrophy, Prominent nasal bridge, Micrognathia, Carious teet... |
OMIM:214150 |
| Grant Syndrome |
|
Joint dislocation, Depressed nasal bridge, Micrognathia, Open bite, Large fontanelles, Wormian bo... |
ORPHA:2097 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Anteverted nares, Choanal atresia, Trigonocephaly, Micrognathia, Esophageal... |
OMIM:610536 |
| Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Pursed lips, Slender nose, Micrognathia, Abnormal pattern of respiration, Narrow mouth, Chin with... |
ORPHA:562528 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Mandibular prognathia, Frontal bossing, Tented upper lip vermilion, Thick lower lip vermilion, Br... |
OMIM:615828 |
| Alg9-Cdg |
|
Microretrognathia, Smooth philtrum, Prominent metopic ridge, Villous atrophy, Thin upper lip verm... |
ORPHA:79328 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Prominent superficial veins, Depressed nasal bridge, Camptodactyly of ... |
OMIM:612350 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Death in infancy, Persistent open anterior fontanelle, Micrognathia, Wide anterior fontanel, Sens... |
OMIM:614866 |
| Split Lower Lip |
|
Abnormal lower lip morphology, Lower lip pit, Abnormality of the dentition, Narrow maxilla |
OMIM:183400 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Respiratory insufficiency, Cleft palate, Restrictive ventilatory defect, Re... |
OMIM:614399 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... |
OMIM:239300 |
| Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Agenesis of corpus callosum, Microretrognathia, Hamartoma of tongu... |
OMIM:311200 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Low-set, posteriorly rotated ears, Intestinal malrotation, Hypoplasia of the premaxilla, Microgna... |
ORPHA:2166 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Micrognathia, Cryp... |
OMIM:257300 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Ankle swelling, Micrognathia, Hypoplasia of the maxilla, Wrist swelling, Carpal osteolysis, Bilat... |
OMIM:166300 |
| Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Brachycephaly, High palate, Parietal... |
OMIM:234100 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... |
OMIM:218600 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Frontal bossing, Anteverted nares, Dolichocephaly... |
OMIM:612863 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Mandibular prognathia, Prominent nose, Wide nasal bridge, Narrow palate, Dolichocephaly |
OMIM:617169 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Hypoplasia of the pon... |
OMIM:612513 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Posteriorly rotated ears, Micrognathia, Crowded maxillary incisors, Narr... |
ORPHA:2063 |
| Fg Syndrome Type 1 |
|
Dental crowding, Micrognathia, Prominent nose, Fused teeth, High palate, Malrotation of colon, Cr... |
ORPHA:93932 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Posteriorly rotated ears, Anteverted nares, Micrognathia, Wide nasal bridge, Cleft palate, Brachy... |
OMIM:616897 |
| Vascular Malformation, Primary Intraosseous |
|
Ectopic tooth eruption, Gingival bleeding |
OMIM:606893 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, ... |
OMIM:119600 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
| Amish Lethal Microcephaly |
|
Death in infancy, Cerebellar vermis hypoplasia, Cleft soft palate, Spina bifida, Micrognathia, Ag... |
ORPHA:99742 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Flat occiput, Micrognathia, High, narrow palate, Dyspnea, Brachycephaly, Wi... |
ORPHA:2707 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
| Schilbach-Rott Syndrome |
|
Posteriorly rotated ears, Micrognathia, Prominent nose, Long nose, Submucous cleft hard palate, M... |
OMIM:164220 |
| Osteogenesis Imperfecta, Type Vii |
|
Death in infancy, Wide cranial sutures, Protrusio acetabuli, Wide anterior fontanel, Hearing abno... |
OMIM:610682 |
| Cree Mental Retardation Syndrome |
|
Posteriorly rotated ears, Cleft soft palate, Micrognathia, Large fontanelles, Low-set ears |
OMIM:606851 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Depressed nasal bridge, Tongue thrusting, Pica, Downturned corners of mouth, Stere... |
OMIM:617865 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Premature loss of teeth |
OMIM:161000 |
| Codas Syndrome |
|
Delayed eruption of teeth, Congenital hip dislocation, Abnormal dental morphology, Abnormal denta... |
ORPHA:1458 |
| Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Anteverted nares, Deep philtrum, Brachycephaly, Downturned corners of mouth, Chiari type I malfor... |
OMIM:618859 |
| Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Tented upper lip vermilion, Posteriorly rotated ears, Bulbous nose, Brachy... |
OMIM:618644 |
| Chand Syndrome |
|
Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol... |
ORPHA:1401 |
| Hao-Fountain Syndrome |
|
Low-set ears, Large fontanelles, Delayed cranial suture closure, Aggressive behavior |
OMIM:616863 |
| 3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Microg... |
ORPHA:435638 |
| Chopra-Amiel-Gordon Syndrome |
|
Thin upper lip vermilion, Cleft lip, Pierre-Robin sequence, Flared nostrils, Brachycephaly, Cleft... |
OMIM:619504 |
| Cerebrooculonasal Syndrome |
|
Low-set, posteriorly rotated ears, Brachycephaly, Abnormal tragus morphology, High palate, Widely... |
ORPHA:66625 |
| Kleefstra Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Brachycephaly, Downturned corners of mouth, Th... |
ORPHA:261494 |
| Chung-Jansen Syndrome |
|
Anteverted nares, Micrognathia, Cryptorchidism, Large earlobe, Thin vermilion border, High palate... |
OMIM:617991 |
| Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Conductive hearing impairment, Failure of eruption of permanent teeth, Tooth... |
ORPHA:3238 |
| Frontonasal Dysplasia 2 |
|
Aplasia of the nasal bone, Cleft ala nasi, Cerebellar vermis hypoplasia, Conical tooth, Bilateral... |
OMIM:613451 |
| Craniofrontonasal Dysplasia |
|
Frontal bossing, Craniosynostosis, Abnormality of the dentition, Sensorineural hearing impairment... |
ORPHA:1520 |
| Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Low-set, posteriorly rotated ears, Abnormal den... |
ORPHA:1133 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Ventriculomegaly, Uplifted earlobe, Abnormality of the dentition, Thick lower lip ve... |
ORPHA:261652 |
| Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, Hypoplasia of the thymus, H... |
ORPHA:861 |
| Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Dental crowding, Anteverted nares, Micrognathia, Dolichocephaly, Cryptorchidis... |
OMIM:617201 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Micrognathia, Wide mouth, Widely spaced teeth, Macrotia |
OMIM:300934 |
| D-Glyceric Aciduria |
|
Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
| Distal 17P13.1 Microdeletion Syndrome |
|
Prominent nasal bridge, Limited elbow movement, Protruding ear, High palate, Hypoplasia of the zy... |
ORPHA:319171 |
| Vitamin K Antagonist Embryofetopathy |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Hydrocephalus, Myelomeningocele, Respi... |
ORPHA:1914 |
| Pfeiffer Syndrome Type 1 |
|
Depressed nasal bridge, Aqueductal stenosis, Brachycephaly, High palate, Low-set ears, Short nose... |
ORPHA:93258 |
| Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth |
OMIM:619489 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Apnea, Anteriorly placed anus, Glossoptosis, High palate, Short philtrum, Ch... |
OMIM:602535 |
| Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Prominent nasal tip, Dental crowding, Abnormalit... |
OMIM:618371 |
| Axenfeld-Rieger Syndrome |
|
Anal stenosis, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Everted lowe... |
ORPHA:782 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Smooth philtrum, Micrognathia, High, narrow palate, Hydrocephalus, Ileus, Colpocephaly, High pala... |
OMIM:620156 |
| Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Hypop... |
ORPHA:950 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Frontal bossing, Micrognathia, Narrow mouth, Partial agenesis of the corpus callosum, Macrotia, W... |
OMIM:620250 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Thin upper lip vermilion, Depressed nasal bridge, Prominent nose, Carious teeth, Aggressive behav... |
OMIM:620191 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Smooth philtrum, Respiratory distress, Posteriorly rotated ears, Depressed nasal bridge, Choanal ... |
OMIM:300968 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Frontal bossing, Micrognathia, Hydrocephalus, Depressed nasal ridge, Wide mouth... |
ORPHA:163966 |
| Al Kaissi Syndrome |
|
Thin upper lip vermilion, Macrodontia, Posteriorly rotated ears, Abnormal pinna morphology, Depre... |
OMIM:617694 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, Wide nasal b... |
OMIM:106260 |
| Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow pala... |
OMIM:180849 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
| Zechi-Ceide Syndrome |
|
Mandibular prognathia, Wide nose, Cerebellar vermis hypoplasia, Cleft lip, Abnormal earlobe morph... |
ORPHA:217017 |
| Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies |
|
Mandibular prognathia, Prominent nasal bridge, High, narrow palate, Low hanging columella, Thick ... |
OMIM:619880 |
| Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Cerebellar atrophy, Dental crowding, Brachycephaly, Central apnea |
ORPHA:320385 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Choanal atresia, Craniosynostosis, Hydrocephalus, Brachycephaly, Midface retrusion |
OMIM:612247 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Depressed nasal bridge, Wide anterior fontanel, Respiratory ... |
OMIM:616482 |
| Rhombencephalosynapsis |
|
Microretrognathia, Low-set, posteriorly rotated ears, Abnormal dentate nucleus morphology, Agenes... |
ORPHA:59315 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Neonatal respiratory distress, Prominent nasal bridge, Micrognathia, Aggressive behavior, Wide na... |
OMIM:618356 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Rectal prolapse, Conical incisor, Oligodontia, Protein-losing enteropathy, Conductive hearing imp... |
OMIM:235510 |
| Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Posteriorly rotated ears, Abnormal pinna morphology, Anteverted nares, Hypopla... |
ORPHA:228396 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Tongue fasciculations, Respiratory insufficiency, Increased CSF lactate |
ORPHA:238329 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Exaggerated median tongue furrow, Dental crowding, Aggressive behavior, Narrow ... |
ORPHA:313892 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus, Wide nasal bridge |
OMIM:209970 |
| Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
| Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Mandibular prognathia, Large fontanelles, Wide nasal bridge, Genu valgum, Protruding ear, Hypopla... |
ORPHA:1778 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Mandibular prognathia, Cleft upper lip, Brachycephaly, Cleft palate, Palmoplantar cutis laxa, Mal... |
OMIM:268850 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Posteriorly rotated ears, Anteverted nares, Brachycephaly, Cleft palate, Downt... |
OMIM:301041 |
| Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Open bite, Macrotia, De... |
ORPHA:61 |
| Ritscher-Schinzel Syndrome 4 |
|
Cryptorchidism, Wide nasal bridge, Narrow palate, Brachycephaly, Wide mouth, Mild fetal ventricul... |
OMIM:619435 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Low-set, posteriorly rotated ears, Prematurely aged appearance, Micrognathia, Carious teeth, Open... |
ORPHA:2617 |
| Non-Distal Duplication 13Q |
|
Micrognathia, Abnormality of the dentition, Cryptorchidism, Aplasia/Hypoplasia of the earlobes, A... |
ORPHA:1702 |
| Usher Syndrome, Type Ig |
|
Abnormal vestibular function, Sensorineural hearing impairment, Hypoplasia of the nasal bone |
OMIM:606943 |
| Saethre-Chotzen Syndrome |
|
Proximal radio-ulnar synostosis, Depressed nasal bridge, Prominent nasal bridge, Craniosynostosis... |
ORPHA:794 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Wide anterior fontanel, Atresia of the external auditory canal |
OMIM:601356 |
| Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Abnormal pinna morphology, Anteverted nares, Persistence of p... |
OMIM:610253 |
| Marshall Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Abnormality of... |
ORPHA:560 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Micrognathia, Bulbous nose, Cupped ear, Wide nasal bridge, Cleft palate, Narrow... |
ORPHA:93946 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose |
ORPHA:1355 |
| X-Linked Intellectual Disability, Wilson Type |
|
Mandibular prognathia, Brachycephaly, Hydrocele testis, Wide mouth, Lateral ventricle dilatation,... |
ORPHA:85290 |
| Ritscher-Schinzel Syndrome 2 |
|
Camptodactyly of finger, Intestinal malrotation, Protruding tongue, Wide anterior fontanel, High ... |
OMIM:300963 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Depressed nasal bridge, Intestinal malrotation, Choanal atresia, Aqueductal... |
ORPHA:93260 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Broad nasal tip, Malar flattening, Open mouth, Retrognathia, Short nose |
OMIM:613670 |
| Acromelic Frontonasal Dysostosis |
|
Encephalocele, U-Shaped upper lip vermilion, Cleft upper lip, Broad nasal tip, Cryptorchidism, Bi... |
OMIM:603671 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Premature loss of primary teeth, Promi... |
OMIM:617364 |
| 3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Dental crowding, Cleft upper lip, Wide anterior fontanel, Cleft lip,... |
OMIM:257920 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Death in infancy, Respiratory distress, Depressed nasal bridge, Increased CSF... |
OMIM:604377 |
| Acrocallosal Syndrome |
|
Wide anterior fontanel, Sensorineural hearing impairment |
ORPHA:36 |
| Myopathy, Centronuclear, X-Linked |
|
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Cryptorchidism... |
OMIM:310400 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Thin upper lip vermilion, Abnormal pinna morphology, Wide nasal bridge, Brachycephaly, Downturned... |
ORPHA:352530 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Cerebellar vermis atrophy, Increased CSF lactate |
OMIM:619054 |
| Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Micrognathia, Gingival overgrowth, Low-set ears, Malar flattening, Coronal craniosyn... |
OMIM:614592 |
| Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Malabsorption |
ORPHA:99811 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
| Grant Syndrome |
|
Wormian bones, Micrognathia |
OMIM:138930 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p... |
OMIM:615716 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Cerebellar vermis atrophy, Brachy... |
OMIM:156610 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Anteverted nares, Aggressive behavior, Hypoplasia of the maxilla, Bulbous nose, Hip dislocation, ... |
ORPHA:481152 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Brachycephaly, Ventriculomegaly |
OMIM:300699 |
| Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Anteverted nares, Brachycephaly, Respiratory ... |
ORPHA:1488 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Thin upper lip vermilion, Hyperplasia of the maxilla |
OMIM:618587 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Mandibular prognathia, Low-set, posteriorly rotated ears, Micrognathia, Hydrocepha... |
ORPHA:1908 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Carious teeth, Trismus, Dyspne... |
OMIM:272430 |
| Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Depressed nasal bridge, Submucous cleft hard palate, Periarticular soft-tiss... |
OMIM:601492 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Thick upper lip vermilion, Turricephaly, Tented upper lip vermilion, Posteriorly rotated ears, An... |
OMIM:619320 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Craniosynostosis, Abnormality of the dentition, Wide nasal bridge, Cle... |
ORPHA:2314 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, Short p... |
ORPHA:2429 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, D... |
ORPHA:1791 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Long philtrum, High palate, Short nose, Micrognathia |
ORPHA:2598 |
| Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Turricephaly, Anteverted nares, Choanal atres... |
ORPHA:83 |
| Char Syndrome |
|
Depressed nasal bridge, Persistence of primary teeth, No permanent dentition, Depressed nasal rid... |
ORPHA:46627 |
| Marshall Syndrome |
|
Thick upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Absent frontal... |
OMIM:154780 |
| Marshall-Smith Syndrome |
|
Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue, Short nose, Gingival over... |
ORPHA:561 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of the nose, Carious teeth, Malar flattening, Retr... |
ORPHA:1390 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Conical tooth, Carious teeth, Bilateral cleft lip and palate, Conductive hearing impairment, Anal... |
ORPHA:1997 |
| 48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Pulmonary em... |
ORPHA:96263 |
| Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Protruding ear, High palate, Widely spaced teeth, Advanced eruption of... |
ORPHA:192 |
| Sotos Syndrome |
|
Mandibular prognathia, High, narrow palate, Partial agenesis of the corpus callosum, High palate,... |
OMIM:117550 |
| Jackson-Weiss Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Convex nasal ridge, Abnormal palate morphology |
ORPHA:1540 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Mixed hearing impairment, Posteriorly rotated ears, Micrognathia, Sensorine... |
OMIM:606164 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Frontal bossing, Anteverted nares, Anterior pituitary hypoplasia, Reduced circulating prolactin c... |
OMIM:613038 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Exaggerated cup... |
OMIM:619306 |
| Temple Syndrome |
|
Frontal bossing, Decreased response to growth hormone stimulation test, Cryptorchidism, Hydroceph... |
ORPHA:254516 |
| Bresek Syndrome |
|
Aganglionic megacolon, Convex nasal ridge, Cryptorchidism, Hydrocephalus, Cleft palate, Protrudin... |
ORPHA:85284 |
| Myopathy, Centronuclear, 5 |
|
Hip contracture, Micrognathia, Respiratory insufficiency, High palate, Narrow mouth, Retrognathia... |
OMIM:615959 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Wide anterior fontanel, Depressed nasal bridge |
OMIM:617241 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Hyperactivity, Restlessness, Prominent nasal bri... |
OMIM:300534 |
| Orofaciodigital Syndrome Xvii |
|
Prominent metopic ridge, Median cleft lip, Prominent nose, High, narrow palate, Low-set ears, Ret... |
OMIM:617926 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Bicoronal synostosis, Flat occiput, Hypoplasia of the pons, Brachycephaly, Lateral ventricle dila... |
OMIM:618736 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Bifid... |
ORPHA:2554 |
| Chromosome 5P13 Duplication Syndrome |
|
Frontal bossing, Turricephaly, Posteriorly rotated ears, Craniosynostosis, Bulbous nose, Wide nas... |
OMIM:613174 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Frontal bossing, Depressed nasal bridge, Brachycephaly, Wide nasal bridge, Bilateral sensorineura... |
OMIM:264470 |
| Osteogenesis Imperfecta, Type Viii |
|
Wormian bones, Wide anterior fontanel, Dentinogenesis imperfecta |
OMIM:610915 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Depressed nasal bridge, Abnormal pinna morphology, Wide anterior fontanel, ... |
OMIM:231680 |
| Treacher Collins Syndrome 2 |
|
Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Mi... |
OMIM:613717 |
| Osteogenesis Imperfecta, Type V |
|
Wormian bones, Anterior radial head dislocation, Dentinogenesis imperfecta, Limited pronation/sup... |
OMIM:610967 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Neonatal respiratory distress, Hydrocephalus |
OMIM:266100 |
| Tarp Syndrome |
|
Low-set, posteriorly rotated ears, Cyanosis, Anteverted nares, Apnea, Micrognathia, Pierre-Robin ... |
ORPHA:2886 |
| Desanto-Shinawi Syndrome |
|
Thin upper lip vermilion, Abnormal pinna morphology, Posteriorly rotated ears, Depressed nasal br... |
OMIM:616708 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Posteriorly rotated ears, Depressed nasal br... |
OMIM:619833 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion |
OMIM:601957 |
| 4H Leukodystrophy |
|
Delayed eruption of teeth, Hypodontia, Dysphagia, Abnormality of the dentition |
ORPHA:289494 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Depressed nasal bridge, Carious teeth, Wide nasal bridge, Thick vermilion b... |
OMIM:617102 |
| Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Patellar aplasia, Thick lower lip vermi... |
OMIM:613804 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Anteverted nares, Depressed nasal bridge, Pneumonia, Recurrent upper respiratory tract infections... |
OMIM:614069 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border, Hearing i... |
OMIM:620114 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Thin upper lip vermilion, Dental crowding, Posteriorly rotated ears, Anteverted nares, Pierre-Rob... |
OMIM:617877 |
| Atelis Syndrome 1 |
|
Glue ear, Prominent nose, Carious teeth, Bronchiectasis, Microtia, High palate, Attention deficit... |
OMIM:620184 |
| Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Underfolded helix, Cutis marmorata, Thick lower lip v... |
ORPHA:2563 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, Prominent nose, Depressed nasa... |
OMIM:156200 |
| Lethal Kniest-Like Dysplasia |
|
Low-set ears, Wide anterior fontanel, Cleft palate |
ORPHA:2347 |
| Eem Syndrome |
|
Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely spaced teeth, Microdo... |
ORPHA:1897 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation, Tented upper lip vermilion, Brachycephaly, Long philtrum |
OMIM:619972 |
| Xq28 (MECP2) duplication |
|
Depressed nasal bridge, Narrow mouth, Brachycephaly, Death in childhood, Malar flattening, Macrotia |
DECIPHER:45 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Microretrognathia, Mandibular prognathia, Frontal bossing, Turricephaly, Aganglionic megacolon, H... |
OMIM:613603 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis |
OMIM:184460 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Frontal bossing, Depressed nasal bridge, Cryptorchidism, Bulbous nose, Brachycephaly, Wide mouth,... |
OMIM:616789 |
| Carpenter Syndrome 1 |
|
Abnormal pinna morphology, Depressed nasal bridge, Sagittal craniosynostosis, Persistence of prim... |
OMIM:201000 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Dilated fourth ventricle, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Retrocerebel... |
OMIM:614831 |
| Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Enamel hypoplasia, Depressed nasal bridge |
OMIM:612463 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Short philtru... |
OMIM:601499 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Low-set, posteriorly rotated ears, Prominent nasal bridge, Carious teeth, ... |
ORPHA:1110 |
| Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Prominent nasal tip, Frontal bossing, Posteriorl... |
ORPHA:439822 |
| Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Cleft soft palate, Smooth philtrum, Micrognathia |
OMIM:614526 |
| Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Prominent nose, Supernumerary tooth, Sensorineural hearing impairmen... |
ORPHA:90024 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Aganglionic megac... |
ORPHA:220497 |
| Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Prominent superficial veins, Delayed eruption of primary tee... |
OMIM:619322 |
| Burn-Mckeown Syndrome |
|
Mandibular prognathia, Choanal atresia, Prominent nasal bridge, Micrognathia, Cleft upper lip, Un... |
OMIM:608572 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase co... |
ORPHA:26793 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Frontal bossing, Prominent superficial veins, Narrow nasal ridge, Hydrocephalus, Bulbous nose, Pr... |
OMIM:612940 |
| Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Prominent nasal bridge, Carious teeth, Thick lower lip vermilion, Narrow palate, Narrow mouth, Br... |
ORPHA:457365 |
| Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Abnormal oral mucosa morphology, Micr... |
ORPHA:1968 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion,... |
ORPHA:329178 |
| Pseudodiastrophic Dysplasia |
|
Frontal bossing, Anteverted nares, Micrognathia, Brachycephaly, Malar flattening, Midface retrusi... |
OMIM:264180 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Thin upper lip vermilion, Frontal bossing, Posteriorly rotated ears, Anteverted nares, Prominent ... |
OMIM:616801 |
| Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Choanal atresia, Craniosynostosis, Aplasia/Hypoplasia of the patella, Sagittal cra... |
OMIM:617063 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Micrognathia, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesi... |
OMIM:619512 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
| Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Narrow nasal bridge, Abnormal dental enamel morphology, Elbow dislocation, Aplasia/Hypoplasia of ... |
ORPHA:3236 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Broad... |
OMIM:101800 |
| 7Q31 Microdeletion Syndrome |
|
Hyperactivity, Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Hypoplasia of the coc... |
ORPHA:251061 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Hearing abnormali... |
ORPHA:2031 |
| Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Prominent nose, Cleft lip, Sensor... |
OMIM:301022 |
| Microform Holoprosencephaly |
|
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Choanal atresia, Midnasal sten... |
ORPHA:280200 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Prominent superficial veins, Decreased adipose tissue around neck, Dent... |
OMIM:608612 |
| Emanuel Syndrome |
|
Dental crowding, Micrognathia, High palate, Cough, Agenesis of corpus callosum, Bifid uvula, Dand... |
ORPHA:96170 |
| 19P13.12 Microdeletion Syndrome |
|
Narrow nasal bridge, Anteverted nares, Craniosynostosis, Aplasia/Hypoplasia of the cerebellar ver... |
ORPHA:254346 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Low-set, posteriorly rotated ears, Metopic suture patent to nasal root, Premature posterior fonta... |
ORPHA:3369 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Flat occiput, Depressed nasal bridge, Micrognathia, High, narrow palate, Te... |
OMIM:608799 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Oligodontia, Aplasia/Hypoplasia of the n... |
ORPHA:2095 |
| Peters-Plus Syndrome |
|
Short lingual frenulum, Bilobate gallbladder, Micrognathia, Hypoplasia of the maxilla, Protruding... |
OMIM:261540 |
| Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
| Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
| Rhiny |
|
Short nose, Thin vermilion border, Anteverted nares |
OMIM:180360 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Macrotia, Cleft palate, Anotia, Microti... |
OMIM:616462 |
| Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
| Isolated Arrhinia |
|
Respiratory distress, Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplas... |
ORPHA:1134 |
| Three M Syndrome 2 |
|
Delayed eruption of teeth, Prominent nasal tip, Anteverted nares, Depressed nasal bridge, Dental ... |
OMIM:612921 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Trisomy 12P |
|
Turricephaly, Supernumerary nipple, Micrognathia, Wide nasal bridge, Cleft palate, Downturned cor... |
ORPHA:1699 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Cerebellar hypoplasia, Cerebellar vermis atrophy |
OMIM:213200 |
| Down Syndrome |
|
Aganglionic megacolon, Depressed nasal bridge, Prematurely aged appearance, Protruding tongue, Ab... |
ORPHA:870 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti... |
ORPHA:69087 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Depressed nasal bridge, Abnormal pinna morphology, Wide anterior fontanel, Dyspnea, Cardiorespira... |
ORPHA:26791 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Prominent nasal bridge,... |
ORPHA:247262 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Di... |
ORPHA:71212 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Prominent metopic ridge, Posteriorly rotated ears, Depressed nasal bridge, Craniosynostosis, Micr... |
OMIM:266920 |
| Barber-Say Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,... |
OMIM:209885 |
| Distal Deletion 10Q |
|
Micrognathia, Prominent nose, Brachycephaly, Protruding ear, High palate, Spina bifida occulta, W... |
ORPHA:96148 |
| 1Q44 Microdeletion Syndrome |
|
Smooth philtrum, Frontal bossing, Exaggerated cupid's bow, Intestinal malrotation, Micrognathia, ... |
ORPHA:238769 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Depressed nasal bridge, Bulbous nose, Submucous cleft hard palate, Thick l... |
OMIM:619103 |
| Symphalangism, Proximal, 1A |
|
Conductive hearing impairment, Stapes ankylosis |
OMIM:185800 |
| Alkuraya-Kucinskas Syndrome |
|
Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Micrognathia, Hydrocephalus, ... |
OMIM:617822 |
| Congenital Disorder Of Glycosylation, Type If |
|
Wide anterior fontanel, Thin vermilion border, Death in infancy |
OMIM:609180 |
| Intellectual Disability-Short Stature-Hypertelorism Syndrome |
|
Wide nose, Hypoplasia of the zygomatic bone, Anteverted nares, Long philtrum |
ORPHA:3074 |
| Facial Clefting, Oblique, 1 |
|
Cleft palate, Cleft upper lip |
OMIM:600251 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Oligodontia, High palate, Exaggerated median tongue fur... |
OMIM:608670 |
| Frontonasal Dysplasia 3 |
|
Posteriorly rotated ears, Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Brachycepha... |
OMIM:613456 |
| Warburg Micro Syndrome 3 |
|
Micrognathia, Brachycephaly, Narrow palate, Downturned corners of mouth, Short nose, Macrotia, De... |
OMIM:614222 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Depressed nasal bridg... |
ORPHA:261144 |
| 3C Syndrome |
|
Death in infancy, Frontal bossing, Depressed nasal bridge, Intestinal malrotation, Micrognathia, ... |
ORPHA:7 |
| Congenital Hydrocephalus |
|
Frontal bossing, Posteriorly rotated ears, Hydrocephalus, Sensorineural hearing impairment, Bulbo... |
ORPHA:2185 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Death in infancy, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, ... |
OMIM:619302 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Pyloric stenosis, Enamel hypoplasia, Death in infancy |
OMIM:226700 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Posteriorly ... |
ORPHA:2759 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Cupped ear, Wide nasal bridge, Low-set ears |
OMIM:167730 |
| 17Q11.2 Microduplication Syndrome |
|
Abnormal dental enamel morphology, Thin vermilion border, Bifid nose, Malar flattening, Enamel hy... |
ORPHA:139474 |
| 15Q Overgrowth Syndrome |
|
Mandibular prognathia, Dental crowding, Micrognathia, High, narrow palate, High palate, Agenesis ... |
ORPHA:314585 |
| Hennekam Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Craniosynostosis,... |
ORPHA:2136 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Micrognathia, Bulbous nose, Wide nasal bridge, Thin vermilion border, Short... |
ORPHA:261304 |
| Ohdo Syndrome |
|
Anteverted nares, Depressed nasal bridge, Hearing impairment, Micrognathia, Cryptorchidism, Short... |
OMIM:249620 |
| Aicardi-Goutieres Syndrome 4 |
|
Cerebellar atrophy, Hydrocephalus, Respiratory insufficiency, CSF lymphocytic pleiocytosis, Low-s... |
OMIM:610333 |
| Nablus Mask-Like Facial Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Anteverted nares, Craniosynostosis, Abnormali... |
OMIM:608156 |
| Teebi Hypertelorism Syndrome 1 |
|
Natal tooth, Thin upper lip vermilion, Dental crowding, Anteverted nares, Sagittal craniosynostos... |
OMIM:145420 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Anteverted nares, Depressed na... |
ORPHA:314655 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Protruding tongue, Dysplastic corpus callosum, Short nose, Recurrent pneu... |
OMIM:619179 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
| Thanatophoric Dysplasia Type 1 |
|
Depressed nasal bridge, Wide anterior fontanel, Abnormal sacroiliac joint morphology, Respiratory... |
ORPHA:1860 |
| Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth, Ectodermal dysplasia |
OMIM:129550 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle |
OMIM:619725 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Posteriorly rotated ears, Choanal atresia, Cleft upper lip, High, narrow palate,... |
OMIM:607597 |
| Distal Deletion 3P |
|
Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Cryptorchidism, Brachycephaly,... |
ORPHA:1620 |
| Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upp... |
ORPHA:894 |
| Cerebrofacioarticular Syndrome |
|
Irregular dentition, Anal stenosis, Tracheomalacia, Micrognathia, Hypoplasia of the maxilla, Bila... |
ORPHA:314679 |
| Trisomy 9P |
|
Dental crowding, Abnormal nasal morphology, Non-midline cleft lip, Brachycephaly, Protruding ear,... |
ORPHA:236 |
| Anencephaly 2 |
|
Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
| Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Cry... |
OMIM:300260 |
| Congenital Myopathy 13 |
|
Hypercapnia, Micrognathia, Cryptorchidism, Brachycephaly, Cleft palate, Downturned corners of mou... |
OMIM:255995 |
| Sandestig-Stefanova Syndrome |
|
Prominent metopic ridge, Wide nasal bridge, Orofacial cleft, Respiratory failure, High palate, Lo... |
OMIM:618804 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Posteriorly rotated ears, ... |
OMIM:618430 |
| Osteogenesis Imperfecta, Type Xxii |
|
Wormian bones, Dentinogenesis imperfecta, Hearing impairment |
OMIM:619795 |
| Desmosterolosis |
|
Frontal bossing, Hypoplastic nasal bridge, Posteriorly rotated ears, Anteverted nares, Micrognath... |
OMIM:602398 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Persistence of primary teeth, H... |
OMIM:170390 |
| Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Thin upper lip vermilion, Prominent metopic ridge, Anteverted nares, Depressed nasal bridge, Micr... |
OMIM:619188 |
| Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Death in infancy, Respiratory distress, Genu recurvatum, Flat acetabul... |
OMIM:184260 |
| Band Heterotopia |
|
Hydrocephalus, Plagiocephaly, Lateral ventricle dilatation, Agenesis of corpus callosum, Ventricu... |
OMIM:600348 |
| Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
| Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Craniosynostosis, Cryptorchidism, Hydrocephalus, Scaphocephaly, Wide nasal bridg... |
OMIM:175700 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the knee, Cleft soft palate, Micrognathia, Genu valgum, Stenosis of the external a... |
ORPHA:93316 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Apnea, Micrognathia, Broad nasal tip, Cryptorchidism, Hydrocephalus, Deep philtrum, Hypoplasia of... |
OMIM:614969 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Macrodontia, Posteriorly rotated ears, Prominent nasal bridge, Protruding ... |
OMIM:212066 |
| Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Prominent nose, W... |
ORPHA:2107 |
| Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Hypoplasia of the maxilla, Cleft palate, Low-set ears, Short nose, Hearing impairment |
OMIM:614261 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Micrognathia, Hip dislocation, Respiratory ... |
ORPHA:2484 |
| Martsolf Syndrome 1 |
|
Enlarged sylvian cistern, Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Hypopla... |
OMIM:212720 |
| Peho Syndrome |
|
Cerebellar atrophy, Anteverted nares, External ear malformation, Hydrocephalus, Short nose, Gingi... |
ORPHA:2836 |
| Rabin-Pappas Syndrome |
|
Mandibular prognathia, Hypoventilation, Tracheomalacia, Micrognathia, Broad nasal tip, Retinal te... |
OMIM:620155 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Micrognathia, Hydrocephalus, Cleft palate, Cerebellar hypoplasia, Hydranencephaly, Dandy-Walker m... |
OMIM:225790 |
| Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Micrognathia, Cryptorchidism, Orofacial cleft, Cleft palate, Microtia, ... |
ORPHA:1988 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Central apnea, Dental crowding, Brachycephaly |
OMIM:615031 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose, Apnea, Delayed cranial suture closure, Micrognathia |
ORPHA:1129 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Underdeveloped nasal alae, Crypto... |
ORPHA:2083 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
| Craniotelencephalic Dysplasia |
|
Low-set, posteriorly rotated ears, Frontal bossing, Craniosynostosis, Hydrocephalus, Frontal ence... |
ORPHA:1528 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Micrognathia |
OMIM:300580 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Turricephaly, Posteriorly rotated ears, Anteverted nares, Spina bifida, Depressed nasal bridge, P... |
OMIM:613776 |
| Stevenson-Carey Syndrome |
|
Posteriorly rotated ears, Anteverted nares, Central hypoventilation, Underdeveloped nasal alae, P... |
OMIM:611961 |
| Desmosterolosis |
|
Low-set, posteriorly rotated ears, Frontal bossing, Depressed nasal bridge, Intestinal malrotatio... |
ORPHA:35107 |
| Isotretinoin Syndrome |
|
Depressed nasal bridge, Micrognathia, Cleft palate, Microtia, Spina bifida occulta, Abnormality o... |
ORPHA:2305 |
| Chiari Malformation Type Ii |
|
Cyanosis, Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Chiari malformation... |
OMIM:207950 |
| Branchiootic Syndrome |
|
Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the external auditory ... |
ORPHA:52429 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Orofacial cleft, Cerebellar malformation, Ventriculomegaly |
ORPHA:324416 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Flexion contracture of finger, Aplasia of the nasal bone, Prematurely ... |
OMIM:601812 |
| Trisomy 20P |
|
Micrognathia, Brachycephaly, Protruding ear, Downturned corners of mouth, Short philtrum, Microdo... |
ORPHA:261318 |
| Trisomy 1Q |
|
Microretrognathia, Frontal bossing, Wide nose, Depressed nasal bridge, Cryptorchidism, Hydrocepha... |
ORPHA:261344 |
| Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth |
OMIM:112350 |
| Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Attached earlobe, Hypoplasia of the maxilla, Anteriorly placed anus, Downt... |
ORPHA:1299 |
| Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Carious teeth, Osteoarthritis,... |
OMIM:190350 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Broad nasal tip, Recurrent upper respiratory tract infections, Abnormality... |
ORPHA:391372 |
| Van Den Ende-Gupta Syndrome |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Knee flexion contr... |
OMIM:600920 |
| Stickler Syndrome, Type I |
|
Arthropathy, Anteverted nares, Depressed nasal bridge, Micrognathia, Osteoarthritis, Submucous cl... |
OMIM:108300 |
| Cranioectodermal Dysplasia 4 |
|
Frontal bossing, Anteverted nares, Sagittal craniosynostosis, Recurrent pneumonia, Decreased nasa... |
OMIM:614378 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Conical tooth, Conduc... |
ORPHA:1071 |
| Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Sensorineural hearing impairment, Short nose, Short chin, Midface retrusion |
OMIM:618379 |
| Osteogenesis Imperfecta, Type Ix |
|
Wormian bones, Dentinogenesis imperfecta |
OMIM:259440 |
| 8Q12 Microduplication Syndrome |
|
Narrow mouth, Sensorineural hearing impairment, Wide nasal bridge, Brachycephaly, Everted lower l... |
ORPHA:228399 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Mandibular prognathia, Frontal bossing, Hearing impairment, Dolichocephaly, Brachycephaly, Plagio... |
OMIM:619721 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Anteverted nares, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Darwin tubercl... |
OMIM:619122 |
| Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Ventriculomegaly, Wide nose, Cerebellar vermis hypoplasia, Cle... |
ORPHA:1394 |
| Amelocerebrohypohidrotic Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Yellow-brown disco... |
ORPHA:1946 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Midface retrusion, Brachycephaly, Hearing impairment |
ORPHA:35099 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Brachycephaly, Plagiocephaly, Dolichocephaly, Ventriculomegaly |
ORPHA:272 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth |
ORPHA:248 |
| Kleeblattschaedel |
|
Hydrocephalus, Cloverleaf skull, Craniosynostosis |
OMIM:148800 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Dee... |
ORPHA:1237 |
| Flynn-Aird Syndrome |
|
Carious teeth, Progressive sensorineural hearing impairment |
OMIM:136300 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy |
OMIM:254120 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Prominent metopic ridge, Exaggerated cupid's bow, Camptodactyly of finger, Posteriorly rotated ea... |
ORPHA:2215 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Wide anterior fontanel, Prolonged neonatal jaundice |
ORPHA:95715 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Underfolded helix, ... |
OMIM:268400 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Carious teeth, Cleft... |
ORPHA:3253 |
| Lateral Meningocele Syndrome |
|
Thickened calvaria, Dental crowding, Posteriorly rotated ears, Micrognathia, Abnormality of the m... |
OMIM:130720 |
| Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Tented upper lip vermilion, Depressed nasal bridge, Micrognathia, Brachycephaly, Smooth philtrum |
OMIM:620240 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Cerebellar atrophy, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Posteriorly rotated e... |
OMIM:618590 |
| Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Frontal bossing, Micrognathia, Cryptorchidism, Hydrocephalus, ... |
ORPHA:1926 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Macrodontia of permanent maxillary central incisor, Sudden episodic apnea, Retrognathia, Neuromus... |
ORPHA:466722 |
| Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Spina bifida occulta |
OMIM:101805 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Uplifted earlobe, Macroorchid... |
OMIM:300143 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventriculomegaly, Depressed nasal bridge, Cutis marmorata, Hydrocephalus, Large earlobe, Smooth p... |
OMIM:602501 |
| Adams-Oliver Syndrome 2 |
|
Depressed nasal bridge, Cutis marmorata, Micrognathia, Hydrocephalus, Bulbous nose, Protruding ea... |
OMIM:614219 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Depressed nasal bridge, Micrognathia, Enlarged naris, Wide anterior fontanel, Recurrent pneumonia... |
OMIM:271665 |
| Bainbridge-Ropers Syndrome |
|
Dental crowding, Micrognathia, High palate, Choanal stenosis, Death in infancy, Anteverted nares,... |
OMIM:615485 |
| Pettigrew Syndrome |
|
Mandibular prognathia, Thickened calvaria, Cerebellar vermis hypoplasia, Prominent nose, Aqueduct... |
OMIM:304340 |
| 19P13.13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Dolichocephaly, Brachycephaly... |
ORPHA:357001 |
| Emanuel Syndrome |
|
Broad jaw, Dental crowding, Intestinal malrotation, Delayed eruption of primary teeth, Micrognath... |
OMIM:609029 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Aganglionic megac... |
ORPHA:220493 |
| Otopalatodigital Syndrome, Type I |
|
Selective tooth agenesis, Delayed closure of the anterior fontanelle, Absent frontal sinuses, Cap... |
OMIM:311300 |
| Tonne-Kalscheuer Syndrome |
|
Prominent nasal bridge, Micrognathia, Prominent nose, Aggressive behavior, Velopharyngeal insuffi... |
OMIM:300978 |
| Beck-Fahrner Syndrome |
|
Brachycephaly, Protruding ear, Extra-axial cerebrospinal fluid accumulation, High palate, Long ph... |
OMIM:618798 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Hyperactivity, Micrognathia, Congenital sensorineural hearing impairme... |
ORPHA:73272 |
| Taurodontism |
|
Taurodontia |
OMIM:272700 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Cleft soft palate, Micrognathia, Wide nasal bridge, Hypoxemia, Microtia, Submuc... |
ORPHA:2282 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Myelomeningocele, Cleft palate |
ORPHA:66637 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Thin upper lip vermilion, Anteverted nares, Cutis marmorata, Short nose, Chiari type I malformati... |
OMIM:613735 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
| Aase-Smith Syndrome I |
|
Death in infancy, Abnormal pinna morphology, Hydrocephalus, Cleft palate, Open mouth, Dandy-Walke... |
OMIM:147800 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Submucous cleft hard palate, Large fontan... |
OMIM:222765 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Frontal bossing, Dolichocephaly, Cleft lip, Deep philtrum, Bulbous nose, Wide ... |
OMIM:618571 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Respiratory insufficiency, ... |
OMIM:613153 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Macroglossia, High pala... |
ORPHA:254864 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Thin upper lip vermilion, Cerebellar atrophy, Cerebellar vermis hypopla... |
ORPHA:572798 |
| Kaufman Oculocerebrofacial Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Neonatal respiratory distress, Abnormal pinna morpholo... |
OMIM:244450 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Flat occiput, Anteverted nares, Protruding tongue, Cryptorchidism, Brachycephaly, Downturned corn... |
ORPHA:96147 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Macroglossia, Micrognathia |
ORPHA:1423 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Frontal bossing, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Bulbous no... |
OMIM:614105 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Pete... |
OMIM:608013 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Enamel hypoplasia, Thick vermilion border, Broad nasal tip |
ORPHA:363523 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Ventriculomegaly, Aganglionic megacolon, Tented upper lip vermilion, Broad nasal t... |
OMIM:614749 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Micrognathia, Lobulated tongue, Agenesis of corpus callosum, Dandy-Walke... |
OMIM:249000 |
| Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia |
OMIM:615960 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Anteriorly placed anus, Choanal stenosis, Conductive hearing impairment, Abn... |
ORPHA:95699 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Hip contracture, Wide cranial sutures, Narrow nasal bridge, Interphala... |
OMIM:259600 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Choanal atresia, Micrognathia, Abnormality of the dentition, High, narrow palate, Su... |
ORPHA:2108 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Cerebrocostomandibular Syndrome |
|
Anal stenosis, Congenital hip dislocation, Posteriorly rotated ears, Cleft soft palate, Neonatal ... |
OMIM:117650 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Flat occiput, Decreased response to growth hormone stimulation test, Anteri... |
ORPHA:177907 |
| Costello Syndrome |
|
Posteriorly rotated ears, Anteverted nares, Limited elbow movement, Micrognathia, Depressed nasal... |
OMIM:218040 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Micrognathia, Respiratory insufficiency due to muscle weakness, Scaphocepha... |
ORPHA:1143 |
| Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Abnormality of the ear, Conductive hearing impairment, Aplas... |
ORPHA:2710 |
| Holoprosencephaly 14 |
|
Cerebellar atrophy, Frontal bossing, Median cleft lip, Anteverted nares, Proboscis, Alobar holopr... |
OMIM:619895 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Wide nose, Apnea, Prominent nasal bridge, Micrognathi... |
ORPHA:85201 |
| Pachyonychia Congenita |
|
Respiratory distress, Natal tooth, Angular cheilitis, Ear pain, Advanced eruption of teeth, Oral ... |
ORPHA:2309 |
| Aarskog-Scott Syndrome |
|
Anteverted nares, Cleft upper lip, Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, Cu... |
OMIM:305400 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum, Cleft palate, Cleft upper lip |
OMIM:614402 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Posteriorly rotated ears, Protruding tongue, Broad nasal tip, Macrotia, Submucou... |
OMIM:618106 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Choanal atresia, Esophageal atresia, Submucous cleft hard palate, Spina bifida occulta... |
OMIM:619227 |
| Qazi-Markouizos Syndrome |
|
Prominent nasal bridge, High, narrow palate, Hypoplasia of teeth, Delayed ossification of carpal ... |
ORPHA:3010 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis |
ORPHA:91130 |
| Trisomy 17P |
|
Wide nose, Micrognathia, Prominent nose, Hydrocephalus, Cleft palate, Orofacial cleft, Wide mouth... |
ORPHA:261290 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, High palate,... |
ORPHA:596 |
| 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 |
| Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Brachycephaly, Short philtrum, Holoprosencephaly, Small earlobe, Median cl... |
ORPHA:1449 |
| Trigonocephaly 1 |
|
Craniosynostosis, High, narrow palate, Wide nasal bridge, Long philtrum, Trigonocephaly, Short no... |
OMIM:190440 |
| 1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal bossing |
ORPHA:250994 |
| Kury-Isidor Syndrome |
|
Frontal bossing, Tented upper lip vermilion, Anteverted nares, Brachycephaly, High palate, Widely... |
OMIM:619762 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Micrognathia, Wide nasal bridge, Cleft palate, Coronal craniosynostosis, Narrow mouth, Short nose... |
OMIM:614078 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Inferior ... |
ORPHA:370022 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ... |
ORPHA:96334 |
| Lig4 Syndrome |
|
Telangiectasia of the skin, Malabsorption, Micrognathia, Cryptorchidism, Erythema, Wide nasal bri... |
ORPHA:99812 |
| Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Frontal bossing, Turricephaly, Hydrocephalus, High palate, Lambdoidal craniosy... |
OMIM:616294 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Cerebellar vermis hypoplasia, Prominent nose, Brachycephaly, Abnormal perio... |
ORPHA:480880 |
| Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Prominent metopic ridge, Dental crowding, Posteriorly rotated ears, Mi... |
ORPHA:2789 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Micrognathia, Gingival overgrowth, Narrow palate, Respiratory insufficiency, Respiratory failure,... |
OMIM:618186 |
| Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose, Long philtrum |
OMIM:125700 |
| Infantile Sialic Acid Storage Disease |
|
Anteverted nares, Hydrocephalus, Gingival overgrowth, High palate, Death in childhood |
OMIM:269920 |
| Masa Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:303350 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Wide nose, Congenital hip dislocation, Posteriorly rotated ears, Limited elbow movement, Prominen... |
OMIM:300280 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Micrognathia, Hydrocephalus, Cleft palate, Anotia, Microtia |
OMIM:243440 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Anorexia, Crackles, Nonproductive cough, ... |
ORPHA:1302 |
| Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Oligodontia, Ectodermal dysplasia, Hypodontia |
OMIM:601345 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Dental crowding, Depressed nasal bridge, Micrognathia, Macrotia, Bulbou... |
OMIM:617061 |
| Immunodeficiency 49 |
|
Natal tooth, Posteriorly rotated ears, Micrognathia, Short philtrum, Wormian bones |
OMIM:617237 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Poor wound healing, Hyperextensibility of the knee, Osteoarthritis, Fragile sk... |
OMIM:130000 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Anteverted nares, Impulsivity, Micrognathia, High, narrow palate, Macrotia, Abnormality of dental... |
ORPHA:96092 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Frontal bossing, Posteriorly rotated ears, Anteverted nares, Depressed ... |
OMIM:610759 |
| 16P13.11 Microdeletion Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, Depressed n... |
ORPHA:261236 |
| Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Sensorineural hearing impairment, Narrow naris... |
OMIM:122880 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Hip dislocation, Oligodontia, Hypodontia, Dysphagia |
OMIM:614381 |
| Orofaciodigital Syndrome Type 10 |
|
Depressed nasal bridge, Cleft soft palate, Tarsal synostosis, Micrognathia, Accessory oral frenul... |
ORPHA:2756 |
| Glass Syndrome |
|
Dental crowding, Apnea, Micrognathia, Conical tooth, Long nose, Oligodontia, High palate, Hyperac... |
OMIM:612313 |
| Frontorhiny |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplasti... |
ORPHA:391474 |
| Junctional Epidermolysis Bullosa Inversa |
|
Carious teeth, Enamel hypoplasia, Fragile skin, Oral mucosal blisters |
ORPHA:79405 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Cerebellar atrophy, Frontal bossing, Depressed nasal bridge, Brachycephaly, Wide mouth, Low-set e... |
OMIM:608776 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Smooth philtrum, Frontal bossing, Dental crowding, Intestinal malrotation, Narrow nose, Cutis mar... |
OMIM:617602 |
| Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:615108 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
| Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Jejunal atresia, Intestinal malrotation, Prominent nasal bridge, Mi... |
OMIM:243605 |
| Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Kabuki Syndrome 2 |
|
Natal tooth, Micrognathia, Broad nasal tip, Lower lip pit, Cupped ear, Dental malocclusion, Hip d... |
OMIM:300867 |
| Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Thick upper lip vermilion, Median cleft lip, Bilateral cleft lip, Micrognathia, Doli... |
OMIM:612651 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Cerebellar atrophy, Anteverted nares, Depressed nasal bridge, Abnormality of the dentition, Deep ... |
OMIM:615398 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Ventriculomegaly |
OMIM:617977 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Depressed nasal ridge, Orofacial cleft, High palate, Thickened helices, Conductive hearing impair... |
OMIM:607872 |
| Geroderma Osteodysplasticum |
|
Mandibular prognathia, Progeroid facial appearance, Hypoplasia of the maxilla, Neonatal wrinkled ... |
OMIM:231070 |
| Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Frontal bossing, Posteriorly rotated ears, Decreased response to growth hormon... |
OMIM:616835 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Hypoglycorrhachia, Cyanosis, Central apnea |
ORPHA:71277 |
| Faciocardiomelic Dysplasia, Lethal |
|
Micrognathia, Narrow mouth, Neonatal death, Microglossia, Retrognathia |
OMIM:227270 |
| Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... |
ORPHA:50815 |
| Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Abnormal palate morphology, Short nose, Bilateral choa... |
ORPHA:1200 |
| Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Micrognathia, Non-... |
ORPHA:1915 |
| Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Micrognathia, Carious teeth, Abnormal respiratory system physiology, Glossoptosis, Delayed ossifi... |
ORPHA:93346 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Thin upper lip vermilion, Depressed nasal bridge, Choanal atresia, Sagittal craniosynostosis, Hia... |
OMIM:610199 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Microretrognathia, Natal tooth, Hamartoma of tongue, Prominent nose, Unicoronal sy... |
OMIM:616300 |
| Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Tented upper lip vermilion, Overhanging nasal tip, Cleft sof... |
OMIM:615582 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Persistence of primary teeth, Carious teeth, Mandibular osteomyelitis, Hyd... |
OMIM:259710 |
| Holoprosencephaly 3 |
|
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... |
OMIM:142945 |
| Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:2238 |
| Joubert Syndrome 14 |
|
Encephalocele, Tented upper lip vermilion, Posteriorly rotated ears, Prominent nasal bridge, Cere... |
OMIM:614424 |
| Silver-Russell Syndrome 2 |
|
Downturned corners of mouth, Delayed closure of the anterior fontanelle, Micrognathia |
OMIM:618905 |
| Weiss-Kruszka Syndrome |
|
Ventriculomegaly, Exaggerated cupid's bow, Anteverted nares, Hearing impairment, Cupped ear, Shor... |
OMIM:618619 |
| Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
| Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te... |
ORPHA:37553 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal nasal morphology, Hydrocephalus, Depressed nasal bridge, Narrow mouth |
ORPHA:83473 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Cerebellar-Facial-Dental Syndrome |
|
Anteverted nares, Micrognathia, Hypoplasia of the pons, Cryptorchidism, Dental malocclusion, Alve... |
ORPHA:444072 |
| Moebius Syndrome |
|
Decreased testicular size, Respiratory distress, Abnormal nasopharynx morphology, Abnormal pinna ... |
OMIM:157900 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Enlargement of the ankles, Carious teeth, Enlargement of the wrists, W... |
OMIM:277440 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Broad nasal tip, Cryptorchidism, Brachycephal... |
ORPHA:3306 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Cerebellar atrophy, Respiratory distress, Sensorineural hearing impairment, ... |
ORPHA:544503 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Mandibular prognathia, High palate, Ventriculomegaly |
ORPHA:2172 |
| Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Delayed eruption of primary teeth, Hearing impairment, Progeroid facial ap... |
ORPHA:90322 |
| Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Carious teeth, Pyloric stenosis, Cutaneous photosensitivity, Low-set ears, Eclabion,... |
OMIM:616395 |
| 16P12.1P12.3 Triplication Syndrome |
|
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, High, narrow pal... |
ORPHA:485405 |
| Angelman Syndrome |
|
Mandibular prognathia, Hyperactivity, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, M... |
OMIM:105830 |
| Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, High palate, Bifid uvula, Sagittal craniosynostosis, Cr... |
OMIM:616580 |
| Doors Syndrome |
|
Respiratory distress, Adrenal hyperplasia, Short lingual frenulum, Brachycephaly, Downturned corn... |
ORPHA:79500 |
| Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Malar flattening, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Short nose |
ORPHA:2835 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Advanced eruption of teeth, High palate |
OMIM:262190 |
| 7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Micrognathia, Brachycephaly, High palate, Short philtrum, Chronic otitis ... |
ORPHA:96121 |
| Potocki-Shaffer syndrome |
|
Delayed cranial suture closure |
DECIPHER:34 |
| Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
| 5Q14.3 Microdeletion Syndrome |
|
Ventriculomegaly, Agenesis of cerebellar vermis, Anteverted nares, Short philtrum, Open mouth, Sh... |
ORPHA:228384 |
| Osteogenesis Imperfecta, Type Iv |
|
Wormian bones, Otosclerosis, Dentinogenesis imperfecta, Hearing impairment |
OMIM:166220 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Posteriorly rotated ears, Depressed nasal bridge, Delayed closure of ... |
OMIM:304120 |
| Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Death in infancy, Malabsorption, Abnormality of the dentition, Underde... |
ORPHA:2315 |
| 2P15P16.1 Microdeletion Syndrome |
|
Smooth philtrum, Prominent nasal bridge, Supernumerary nipple, Hearing impairment, Wide nasal bri... |
ORPHA:261349 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Short chin, Cleft palate, Cleft upper lip |
ORPHA:398189 |
| Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion |
OMIM:616898 |
| Kagami-Ogata Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Microtia, Long... |
OMIM:608149 |
| Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Apnea, Micrognathia, Partial agenesis of the corpus callosum, Craniofacial osteo... |
OMIM:300373 |
| Tenorio Syndrome |
|
Mandibular prognathia, Wide nose, Anteverted nares, Apnea, Hydrocephalus, Recurrent pneumonia, Wi... |
OMIM:616260 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Neonatal respiratory distress, Flat occiput, Anteverted nares, Depressed nasal bridge, Protruding... |
OMIM:618797 |
| Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Abnormal pinna morphology, Selective tooth agenesis, Anteverted nares, Cleft... |
OMIM:164200 |
| Hamamy Syndrome |
|
Hypoparathyroidism, Thin upper lip vermilion, Anteverted nares, Craniosynostosis, Micrognathia, C... |
OMIM:611174 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Dental crowding, Abnormal pinna morphology, Anteverted nares, Prominent na... |
OMIM:309583 |
| Hereditary Methemoglobinemia |
|
Cerebellar atrophy, Lip discoloration, Cyanosis, Exertional dyspnea |
ORPHA:621 |
| Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Frontal bossing, Micrognathia, Hydrocephalus, Midface retrusion, Mic... |
OMIM:112240 |
| Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Hiatus hernia, Aggressive behavi... |
ORPHA:2896 |
| Intellectual Disability-Strabismus Syndrome |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Narrow nasal ridge... |
ORPHA:363528 |
| Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Craniosynostosis, Hydrocephalus, Wide nasal bridge, Umbilical hernia, Agenesis o... |
ORPHA:380 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of ... |
OMIM:619950 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, High palate, Micr... |
OMIM:224690 |
| Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Wormian bones, Abnormal dental enamel morphology, Micrognathia |
ORPHA:2050 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Cleft soft palate, Uplifted earlobe, Pierre-Robin sequence, Choanal ste... |
OMIM:620183 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Frontal bossing, Neonatal respiratory distress, Dental crowding, Anteverted nares, Depressed nasa... |
OMIM:619005 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Cleft upper lip, Depressed nasal ridge, Cleft palate, Low... |
OMIM:613885 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, ... |
OMIM:305100 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Cerebellar vermis hypoplasia, Micrognathia, De... |
OMIM:619720 |
| Triploidy |
|
Low-set, posteriorly rotated ears, Intestinal malrotation, Micrognathia, Cryptorchidism, Hydrocep... |
ORPHA:3376 |
| Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, C... |
OMIM:114300 |
| Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Prominent nasal bridge, Micrognathia, Hypoplasia o... |
ORPHA:193 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Anteverted nares, Depressed nasal bridge, Supernumerary tooth, Thin vermilion border, Thick vermi... |
ORPHA:86818 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Enamel hypoplasia, Generalized abnormality of skin, Fragile... |
ORPHA:79411 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Mixed hearing impairment, Neon... |
ORPHA:79345 |
| Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Smooth philtrum, Low-set, posteriorly rotated ears, Abnormality of the dentiti... |
ORPHA:1786 |
| 20Q11.2 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Tented upper lip vermilion, Anteverted nares, Depressed nasal ... |
ORPHA:363659 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Carious teeth, Enamel hypoplasia, Neonatal respiratory distress |
OMIM:226670 |
| Joubert Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Anteverted nares, Prominent n... |
ORPHA:475 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Smooth philtrum, Posteriorly rotated ears, Cariou... |
OMIM:619229 |
| Frontal Encephalocele |
|
Encephalocele, Spina bifida, Hydrocephalus, Dolichocephaly, Calvarial skull defect |
ORPHA:1931 |
| Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Cleft pa... |
ORPHA:1358 |
| 9P13 Microdeletion Syndrome |
|
Microretrognathia, Anteverted nares, Abnormality of cartilage of external ear, Wide nasal bridge,... |
ORPHA:324313 |
| Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Wormian bones, Bruising susceptibility, Dentinogenesis imperfecta, Hearing impairment |
OMIM:166200 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Oligodontia, Hypodontia, Dysphagia |
ORPHA:447896 |
| Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Enlarged joints, Abnormality of the elbow, Genu valgum, Long philtrum,... |
ORPHA:263463 |
| Chromosome 2Q37 Deletion Syndrome |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Sensorineural hearing impai... |
OMIM:600430 |
| Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:615109 |
| Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Respiratory distress, Anteverted nares, Camptod... |
OMIM:166250 |
| Czeizel-Losonci Syndrome |
|
Low-set, posteriorly rotated ears, Spina bifida, Micrognathia, Hydrocephalus, Myelomeningocele, T... |
ORPHA:2437 |
| Hennekam-Beemer Syndrome |
|
Wide nose, Telangiectasia of the skin, Camptodactyly of finger, Pneumonia, Micrognathia, Long nos... |
ORPHA:2135 |
| Fg Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Diastema, Long philtrum, Trigonocephaly, Short nose |
OMIM:300581 |
| Shprintzen-Goldberg Syndrome |
|
Posteriorly rotated ears, Camptodactyly of finger, Craniosynostosis, Micrognathia, Hypoplasia of ... |
ORPHA:2462 |
| Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re... |
OMIM:619773 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Carious teeth, Enamel hypoplasia, Fragile skin, Oral mucosal blisters |
ORPHA:79406 |
| Alexander Disease |
|
Death in infancy, Abnormal dentate nucleus morphology, Hydrocephalus, Death in adolescence, Death... |
OMIM:203450 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Double Outlet Right Ventricle |
|
Cyanosis, Depressed nasal bridge, Intestinal malrotation, Abnormality of cartilage of external ea... |
ORPHA:3426 |
| Baller-Gerold Syndrome |
|
Narrow nasal bridge, Frontal bossing, Prominent nasal bridge, Micrognathia, Malabsorption, Brachy... |
ORPHA:1225 |
| Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Abnormal pinna morphology, Cleft palate, Respiratory failure, Abnormal helix morphol... |
ORPHA:158687 |
| Cerebellofaciodental Syndrome |
|
Aggressive behavior, Dental malocclusion, Genu valgum, Taurodontia, Low-set ears, Macrodontia of ... |
OMIM:616202 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Overfolding of the superior helices, Natal tooth, Micrognathia, Gingival overgrowth, Metopic depr... |
ORPHA:313855 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Anorexia, Crackles, Dyspnea, Vertigo, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Unilateral cryptorchidism, Bilateral cryptorchidism, High... |
OMIM:300219 |
| Acrofrontofacionasal Dysostosis |
|
Broad nasal tip, Non-midline cleft lip, Brachycephaly, Cleft palate, Everted lower lip vermilion,... |
ORPHA:1784 |
| Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Camptodactyly of finger, Carious teeth, Sensorineural hearing impairment, Joint contracture of th... |
ORPHA:1883 |
| Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... |
ORPHA:1507 |
| Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Prominent nose, Micrognathia, High palate, Macrotia, Hyperplasia of the maxilla |
OMIM:620194 |
| 2Q23.1 Microdeletion Syndrome |
|
Tented upper lip vermilion, Macrodontia, Cryptorchidism, Brachycephaly, Everted lower lip vermili... |
ORPHA:228402 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Wide mouth, Hydrocephalus, Wide nasal base, Wide nasal bridge |
OMIM:616521 |
| Fetal Valproate Spectrum Disorder |
|
Narrow mouth, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Long phi... |
ORPHA:1906 |
| Achondrogenesis |
|
Frontal bossing, Anteverted nares, Micrognathia, Long philtrum, Umbilical hernia, Short nose |
ORPHA:932 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Bilateral cryptorchidism, Esophageal a... |
OMIM:619859 |
| Temtamy Syndrome |
|
Dental crowding, Convex nasal ridge, Micrognathia, Self-mutilation, Hip dislocation, Hypoplasia o... |
OMIM:218340 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Macrodontia, High, narrow palate, Sensorineural hearing impairment, Ta... |
ORPHA:3214 |
| Ogden Syndrome |
|
Microretrognathia, Everted upper lip vermilion, Underdeveloped nasal alae, High, narrow palate, S... |
ORPHA:276432 |
| White-Sutton Syndrome |
|
Mandibular prognathia, Micrognathia, Downturned corners of mouth, High palate, Short philtrum, Ti... |
OMIM:616364 |
| Prolidase Deficiency |
|
Chronic lung disease, Depressed nasal bridge, Micrognathia, Asthma, Recurrent pneumonia, Diffuse ... |
OMIM:170100 |
| Genitopalatocardiac Syndrome |
|
Micrognathia, Cryptorchidism, Hydrocephalus, Non-midline cleft lip, Wide nasal bridge, Cleft pala... |
ORPHA:2075 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Umbilical hernia, Hydrocephalus, Frontal bossing, High, narrow palate |
ORPHA:2181 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia... |
ORPHA:306542 |
| Distal Deletion 9P |
|
Low-set, posteriorly rotated ears, Abnormality of the dentition, High, narrow palate, Aplasia/Hyp... |
ORPHA:1642 |
| X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Sensorineural hearing im... |
ORPHA:1131 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology, Hearing ... |
ORPHA:1782 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Carious teeth, Calvarial osteosclerosis, Delayed cranial suture closure |
ORPHA:93324 |
| Short Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Prominent superficial veins, Micrognathia, Underdevel... |
OMIM:269880 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Micrognathia, High palate, Microdontia, Anteverted nares, Depressed nasal b... |
ORPHA:536467 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Recurrent upper respiratory tract infections, Tachypnea, Respirat... |
OMIM:263000 |
| Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth |
OMIM:617105 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Abnormal pinna morphology, Depressed nasal bridge, Micrognathia, Bu... |
OMIM:614437 |
| Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Hydrocephalus, Depressed nasal bridge, Cleft palate |
ORPHA:2635 |
| Schwartz-Jampel Syndrome |
|
Apnea, Micrognathia, High palate, Wrist flexion contracture, Low-set, posteriorly rotated ears, P... |
ORPHA:800 |
| Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Prematu... |
OMIM:601349 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Short nose, Thin vermilion border, Narrow mouth |
ORPHA:2370 |
| Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Anteverted nares, Broad nasal tip, Carious teeth, Abnormal subcutaneous fat tissue distribution, ... |
ORPHA:357074 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Neonatal asphyxia, Cleft palate, Hypoplasia of teeth, Microtia, Widely spaced teeth, Recurrent ot... |
ORPHA:2728 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Dilated fourth ventricle, Thin upper lip vermilion, Villous atrophy, Death in infancy, Depressed ... |
OMIM:212065 |
| Ayme-Gripp Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge... |
OMIM:601088 |
| Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
| Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Dilated fourth ventricle, Cerebellar hypoplasia |
OMIM:620208 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Thin upper lip vermilion, Wide nose, Anteverted nares, Dorsocervical fat pad, Micrognathia, Senso... |
ORPHA:391408 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Dental crowding, D... |
OMIM:300990 |
| Beaulieu-Boycott-Innes Syndrome |
|
Micrognathia, Carious teeth, Long nose, Velopharyngeal insufficiency, Dental malocclusion, Low ha... |
OMIM:613680 |
| Pfeiffer Syndrome |
|
Mandibular prognathia, Wide nasal bridge, High palate, Hypoplasia of the zygomatic bone, Short ph... |
ORPHA:710 |
| Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Abnormal dental morphology, Anteverted nares, Abnormality of the dentition, Hypoplasia... |
ORPHA:238468 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Craniosynostosis, Cry... |
ORPHA:1272 |
| Diencephalic Syndrome |
|
Hydrocephalus, Macrotia, Everted lower lip vermilion |
ORPHA:1672 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Frontal bossing, Micrognathia, Duodenal stenosis, Microtia, Short nose |
ORPHA:2547 |
| Craniosynostosis 4 |
|
Ectopic posterior pituitary, Depressed nasal bridge, Sagittal craniosynostosis, Chiari type I mal... |
OMIM:600775 |
| Toluene Embryopathy |
|
Micrognathia, Protruding ear, Thin vermilion border, Hypoplasia of the zygomatic bone, Low-set ea... |
ORPHA:1920 |
| Gapo Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Choan... |
ORPHA:2067 |
| Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Prominent nose, Carious teeth, Abn... |
ORPHA:2769 |
| Johnson Neuroectodermal Syndrome |
|
Choanal atresia, Carious teeth, Bulbous nose, Anosmia, Cleft palate, Protruding ear, Microtia, Ev... |
ORPHA:2316 |
| Hogue-Janssen Syndrome 2 |
|
Tented upper lip vermilion, Anteverted nares, Hydrocephalus, Plagiocephaly, Open mouth, Agenesis ... |
OMIM:616362 |
| Acitretin/Etretinate Embryopathy |
|
Aplasia/Hypoplasia of the maxilla, Anteverted nares, Micrognathia, Cupped ear, Antecubital pteryg... |
ORPHA:40366 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft palate, Cleft upper lip |
OMIM:120433 |
| Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Intestinal pseudo-obstruction, Hydrocephalus, Thick lower lip vermilio... |
OMIM:309900 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Anteverted nares, Depressed nasal bridge, Pneumonia, Protruding tongue, Micrognathia, ... |
OMIM:242860 |
| Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Concave nasal ridge, Short philtrum, Cleft palate |
OMIM:617337 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Natal tooth, Delayed closure of the anterior fontanelle, Micrognathia,... |
OMIM:224300 |
| Noonan Syndrome 13 |
|
Prominent metopic ridge, Posteriorly rotated ears, Anteverted nares, Micrognathia, Aggressive beh... |
OMIM:619087 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus, Low-set ears, Overfolded helix, Abnormal palate morphology, Hearing impairment |
ORPHA:251046 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Tented upper lip vermilion, Short philtrum, Ventriculomegaly |
ORPHA:85277 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Miscarriage, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Hydrocephalus... |
ORPHA:1865 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Abnormal pinna morphology, Depressed nasal bridge, Hearing impairment, Micrognathi... |
ORPHA:90652 |
| Monosomy 9P |
|
Micrognathia, Brachycephaly, Anotia, High palate, Agenesis of corpus callosum, Anteverted nares, ... |
ORPHA:261112 |
| Kniest Dysplasia |
|
Respiratory distress, Depressed nasal bridge, Tracheomalacia, Cleft palate, Recurrent otitis medi... |
OMIM:156550 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Allergic rhinitis, Carious teeth, Asthma, Jaundice, Steatorrhea |
OMIM:612714 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis atrophy |
ORPHA:1170 |
| Parietal Foramina 1 |
|
Wormian bones, Cleft palate, Cleft upper lip |
OMIM:168500 |
| Cdags Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Rectourethral fistula, Parietal foramina, Sensorineur... |
OMIM:603116 |
| Frontofacionasal Dysplasia |
|
Cleft upper lip, Underdeveloped nasal alae, Brachycephaly, Orofacial cleft, Midline defect of the... |
OMIM:229400 |
| Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
| Albers-Schönberg Osteopetrosis |
|
Frontal bossing, Abnormality of the dentition, Carious teeth, Mandibular osteomyelitis, Hydroceph... |
ORPHA:53 |
| Meckel Syndrome 14 |
|
Microretrognathia, Cyanosis, Anteverted nares, Micrognathia, Pneumothorax, Cardiorespiratory arre... |
OMIM:619879 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
| Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
| Achondrogenesis, Type Ii |
|
Microretrognathia, Frontal bossing, Brachycephaly, Cleft palate, Stillbirth, Long philtrum |
OMIM:200610 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Smooth philtrum, Abnormality of the dentition, Carious teeth, Dysplastic corpus callosum, Velopha... |
ORPHA:363444 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Narrow nasal bridge, Cerebellar vermis hypoplasia, Depressed nasal bridge, Micrognathia, Cryptorc... |
OMIM:620073 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose, Thick vermilion border, Abnormal pattern of respiration, Long philtrum |
ORPHA:833 |
| Verheij Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Wide nasal bridge, C... |
OMIM:615583 |
| Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
| Aicardi Syndrome |
|
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Hiatus hernia, Malabsorption... |
ORPHA:50 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Intestinal malrotation, Underfolded helix, Pos... |
OMIM:618316 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Wide nose, Anteverted nares, Depressed nasal bridge, Deep philtrum, Tachypnea, ... |
OMIM:613320 |
| Native American Myopathy |
|
Micrognathia, Conductive hearing impairment, Cleft palate, Respiratory insufficiency, Downturned ... |
ORPHA:168572 |
| 1Q41Q42 Microdeletion Syndrome |
|
Frontal bossing, Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Cryptorchidi... |
ORPHA:250999 |
| Alopecia Antibody Deficiency |
|
Conductive hearing impairment, Abnormality of dental color |
ORPHA:1006 |
| Distal Deletion 19P |
|
Low-set, posteriorly rotated ears, Hypoplasia of the maxilla, Sensorineural hearing impairment, C... |
ORPHA:96129 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Protruding ear, High palate, Microretrognathia, Low-set, posteriorly rotated ears, Cryptorchidism... |
ORPHA:2953 |
| Harel-Yoon Syndrome |
|
Mandibular prognathia, Frontal bossing, Cerebellar atrophy, Micrognathia, Short nose |
OMIM:617183 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Conical tooth, Persistence of primary teeth, Dental malocclusion, Wide nasal bridge, Oligodontia,... |
OMIM:618727 |
| Hypophosphatasia, Adult |
|
Arthropathy, Premature loss of permanent teeth, Premature loss of primary teeth, Carious teeth, C... |
OMIM:146300 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Hiatus hernia, Persistence of primary teeth, Recurrent upper respiratory tract i... |
OMIM:619769 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, H... |
OMIM:617967 |
| Autosomal Recessive Omodysplasia |
|
Frontal bossing, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Micrognathia... |
ORPHA:93329 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Abnormality of the dentition, Micrognathia, Aggressive behavior, Eruption failur... |
ORPHA:476126 |
| Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Pursed lips, Cerebellar atrophy, Dental crowding, Abnormal auditory evoked... |
OMIM:193700 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Hydrocephalus |
ORPHA:2183 |
| Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Thin upper lip vermilion, Unilateral cryptorchidism, Brachycephaly, Plagiocephaly, High palate |
OMIM:618862 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Increased circulating free fatty acid level |
OMIM:610768 |
| Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Otosclerosis, Prominent metopic ridge, Wide anterior fontanel, Large fonta... |
ORPHA:116 |
| Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Frontal bossing, Agenesis of cerebellar vermis, ... |
OMIM:608091 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Macroglossia, Cerebellar hypoplasia, Cerebellar dysp... |
OMIM:613155 |
| Prolidase Deficiency |
|
Depressed nasal bridge, Micrognathia, Carious teeth, Erythema, Depressed nasal ridge, Genu valgum... |
ORPHA:742 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Posteriorly rotated ears, Depressed nasal bridge, Choanal atresia, Celiac disease, Absent cupid's... |
ORPHA:284169 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology |
ORPHA:3353 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis, Chronic otitis media, Agene... |
OMIM:619466 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Tented upper lip vermilion, Posteriorly rotated ears, Prominent nasal bridge, Brachycephaly, Pine... |
OMIM:618885 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Short philtrum, Joint contracture of the 5th finger, Microdontia, Low-set, posteriorly rotated ea... |
ORPHA:363611 |
| Achondrogenesis Type 1B |
|
Frontal bossing, Anteverted nares, Micrognathia, Long philtrum, Umbilical hernia, Short nose |
ORPHA:93298 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea, Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Attention... |
OMIM:619580 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Lateral ventricular asymmetry, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Depresse... |
OMIM:613457 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Carious teeth, Reduced subcutaneous adipose tissue, Hypodontia |
OMIM:612079 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Prominent nasal bridge, Sensorineural hearing impairment, Asthma, Retrognathia, Delayed eruption ... |
OMIM:619269 |
| Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Mixed hearing impairment, Cleft upper lip, Wide nasal bridge, Cleft palate... |
OMIM:201180 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Cryptorchidism, Trismus, Deep... |
OMIM:227330 |
| Joubert Syndrome 6 |
|
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Breathi... |
OMIM:610688 |
| Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
| Macrocephaly-Developmental Delay Syndrome |
|
Mandibular prognathia, Microretrognathia, Frontal bossing, Craniosynostosis, Scaphocephaly, Recur... |
ORPHA:397612 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Mandibular prognathia, Thymus hyperplasia, Anteverted nares, Open bi... |
ORPHA:2969 |
| Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Nasal polyposis, Intestinal malrotation, Productive cough, Hydroce... |
ORPHA:244 |
| Developmental And Epileptic Encephalopathy 49 |
|
Frontal bossing, Tented upper lip vermilion, Cerebellar vermis hypoplasia, Prominent nose, Dyspla... |
OMIM:617281 |
| Achondroplasia |
|
Respiratory distress, Death in infancy, Frontal bossing, Depressed nasal bridge, Hydrocephalus, U... |
OMIM:100800 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Lateral ventricular asymmetry, Prominent nasal bridge, Narro... |
OMIM:616914 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Flat occiput, Dental crowding, Micrognathia, High palate, Short philtrum, Microdontia, Abnormalit... |
ORPHA:251028 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Wide nose, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Cupped ear, Recur... |
ORPHA:2399 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Posteriorly rotated ears, Long philtrum, Pulmonary arterial hypertension, Short nose, Short chin,... |
OMIM:300887 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Wide nasal bridge, De... |
ORPHA:521445 |
| Ataxia-Telangiectasia-Like Disorder |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar atrophy |
ORPHA:251347 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Cerebellar atrophy, Ventriculomegaly, Anteverted nares, Depressed nasal bridge, Hypoplasia of the... |
OMIM:616430 |
| Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... |
ORPHA:2302 |
| Tetrasomy 15Q26 |
|
Microretrognathia, Hydrocephalus, Cupped ear, High palate, Low-set ears, Dandy-Walker malformation |
OMIM:614846 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Anteverted nares, Micrognathia, Carious teeth, Cryptorchidis... |
OMIM:613026 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Cerebellar atrophy, Respiratory distress, Increased CSF lactate, High palate, Pulmonary arterial ... |
OMIM:619272 |
| Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... |
OMIM:118400 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Narrow mouth, Hyd... |
ORPHA:77301 |
| Bardet-Biedl Syndrome 16 |
|
Recurrent otitis media, Respiratory distress, Hearing impairment |
OMIM:615993 |
| Thanatophoric Dysplasia |
|
Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Hydrocephalus, Respiratory insufficien... |
ORPHA:2655 |
| Autosomal Dominant Omodysplasia |
|
Frontal bossing, Depressed nasal bridge, Micrognathia, Cryptorchidism, Long philtrum, Malar flatt... |
ORPHA:93328 |
| 14Q22Q23 Microdeletion Syndrome |
|
Posteriorly rotated ears, Anterior pituitary hypoplasia, Micrognathia, Underdeveloped nasal alae,... |
ORPHA:264200 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Hearing impairment, C... |
OMIM:601353 |
| Chime Syndrome |
|
Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Erythema, Hip disl... |
ORPHA:3474 |
| Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormalit... |
ORPHA:2753 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Underdeveloped superior crus of antihelix,... |
ORPHA:369950 |
| Holoprosencephaly |
|
Flat occiput, Deep philtrum, Depressed nasal ridge, Absent nares, Holoprosencephaly, Aplasia/Hypo... |
ORPHA:2162 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Hydrocephalus, Respirat... |
ORPHA:93274 |
| Achondrogenesis Type 1A |
|
Frontal bossing, Anteverted nares, Micrognathia, Long philtrum, Umbilical hernia, Short nose |
ORPHA:93299 |
| Monosomy 18Q |
|
Mandibular prognathia, Depressed nasal bridge, Prominent nose, Bilateral cryptorchidism, Hydrocep... |
ORPHA:1600 |
| Autosomal Dominant Robinow Syndrome |
|
Micrognathia, High, narrow palate, Abnormality of the gingiva, Downturned corners of mouth, Oligo... |
ORPHA:3107 |
| De Barsy Syndrome |
|
Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterior fontanelle... |
ORPHA:2962 |
| Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Hearing impairment, Micrognathia, Alobar holoprosencephaly, Submucous cleft har... |
OMIM:301043 |
| Opitz Gbbb Syndrome |
|
Micrognathia, High palate, Recurrent aspiration pneumonia, Prominent metopic ridge, Anteverted na... |
ORPHA:2745 |
| Microphthalmia With Limb Anomalies |
|
Frontal bossing, Unilateral cryptorchidism, Posteriorly rotated ears, Depressed nasal bridge, Cle... |
OMIM:206920 |
| 9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares, Midface retrusion, Protruding tongue |
DECIPHER:52 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress, Frontal bossing, Aganglionic megacolon, Anteverted nares, Depressed nasal b... |
ORPHA:1051 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Frontal bossing, Posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Micrognathia... |
ORPHA:1974 |
| Coffin-Lowry Syndrome |
|
Mandibular prognathia, Rectal prolapse, Protruding ear, Thick nasal septum, High palate, Widely s... |
OMIM:303600 |
| 3M Syndrome |
|
Delayed eruption of teeth, Congenital hip dislocation, Anteverted nares, Abnormal dental enamel m... |
ORPHA:2616 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Frontal bossing, Cutis marmorata, Depressed nasal bridge, Telangiectasia of the skin, Hydrocephal... |
ORPHA:60040 |
| Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Hypoplasia of ... |
OMIM:613803 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Frontal bossing, Prominent nose, Wide nasal bridge, Brachycephaly, Wide mouth, Biparietal narrowi... |
ORPHA:1292 |
| Eiken Syndrome |
|
Persistence of primary teeth, Thick lower lip vermilion, Flat acetabular roof, Eruption failure, ... |
OMIM:600002 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture |
OMIM:118650 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corp... |
OMIM:615948 |
| Mucopolysaccharidosis Type 1 |
|
Sinusitis, Depressed nasal bridge, Apnea, Malabsorption, Abnormal nasal morphology, Cough, Hydroc... |
ORPHA:579 |
| Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... |
OMIM:225500 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Neonatal death, Natal tooth |
OMIM:609638 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Intestinal malrotation, Prominent nasal bridge, Cryptorchidism, Wide na... |
ORPHA:401935 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Vertebral fusion, Wide nose, Posteriorly rotated ears, Anteverted nares, Craniosynostosis, Microg... |
OMIM:213980 |
| Arboleda-Tham Syndrome |
|
Mandibular prognathia, Respiratory distress, Anteverted ears, Downturned corners of mouth, Short ... |
OMIM:616268 |
| Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Camptod... |
ORPHA:568 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Sensorineural hearing impairment, Dilated third ventricle, Abnormal cerebrosp... |
ORPHA:314404 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... |
OMIM:619751 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Micrognathia, Brachycephaly, Protruding ear, Oligodontia, High palate, Short philtrum, Depressed ... |
OMIM:309590 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Hip dislocation, Cleft palate,... |
OMIM:309350 |
| Poikiloderma With Neutropenia |
|
Frontal bossing, Depressed nasal bridge, Micrognathia, Carious teeth, Underdeveloped nasal alae, ... |
OMIM:604173 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cerebellar vermis hypoplasia, Micrognathia, Laryngotracheomalacia, Short philtrum, Anteverted nar... |
OMIM:618454 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Malar flattening... |
OMIM:614613 |
| Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Frontal bossing, Hyperparathyroidism, Respiratory distress, Antevert... |
OMIM:618188 |
| Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Overfolded helix, Submucous cleft hard palate |
ORPHA:209908 |
| Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Thin vermil... |
OMIM:619869 |
| Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Fragile skin |
ORPHA:251393 |
| Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Thin upper lip vermilion, Anteverted nares, Brachycephaly, Wide mouth, Low-se... |
OMIM:103050 |
| Barber-Say Syndrome |
|
Delayed eruption of teeth, Abnormal pinna morphology, Anteverted nares, Bulbous nose, Wide nasal ... |
ORPHA:1231 |
| Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Posteriorly rotated ears, Anteverted nares, ... |
OMIM:247200 |
| Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Wide nose, Anteverted... |
ORPHA:93357 |
| Adnp Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Ventriculomegaly, Depressed nasal bridge, Trigono... |
ORPHA:404448 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Everted upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Supernumerary nipp... |
OMIM:619951 |
| Usher Syndrome Type 2 |
|
Abnormality of dental color, Abnormal dental enamel morphology, Carious teeth, Sensorineural hear... |
ORPHA:231178 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Posteriorly rotated ears, Decreased response to growth... |
OMIM:241410 |
| Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Capitat... |
ORPHA:289 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Abnorma... |
OMIM:211530 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
| Treacher Collins Syndrome 1 |
|
Cleft soft palate, Choanal atresia, Micrognathia, Cleft palate, Wide mouth, Microtia, Abnormal pa... |
OMIM:154500 |
| Central Precocious Puberty In Male |
|
Pituitary microadenoma, Hydrocephalus, Abnormality of the testis size, Hypothalamic hamartoma |
ORPHA:649929 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia, Concave nasal ridge, Decreased response... |
OMIM:245590 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Decreased response to growth hormone stimulation t... |
OMIM:616007 |
| Acromicric Dysplasia |
|
Anteverted nares, Narrow mouth, Bulbous nose, Thick lower lip vermilion, Long philtrum, Short nose |
ORPHA:969 |
| Odontoonychodermal Dysplasia |
|
Erythema, Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spac... |
OMIM:257980 |
| Cornelia De Lange Syndrome 1 |
|
Micrognathia, High, narrow palate, Brachycephaly, Downturned corners of mouth, High palate, Widel... |
OMIM:122470 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, High palate |
OMIM:620011 |
| Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Submucous cleft hard... |
ORPHA:2588 |
| Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
| Radio-Renal Syndrome |
|
Respiratory distress, Depressed nasal bridge, Micrognathia, High, narrow palate, Dyspnea, Downtur... |
ORPHA:3015 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Anteriorly placed anus... |
OMIM:146510 |
| Baker-Gordon Syndrome |
|
Prominent nasal tip, Thin upper lip vermilion, Short nose, Smooth philtrum |
OMIM:618218 |
| Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:158350 |
| Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy, Sensorineural hearing impairment, Increased CSF lactate |
OMIM:616974 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Swollen lip, Angioedema, Erythema, Upper airway obstruction, ... |
ORPHA:100057 |
| Kilquist Syndrome |
|
Mandibular prognathia, Intestinal malrotation, Choanal atresia, Midgut malrotation, Xerostomia, H... |
OMIM:619080 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Decreased response to growth hormone stimula... |
OMIM:610978 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Cleft pala... |
OMIM:611134 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Otitis media, Compulsive behaviors, Conductive hearing impairment, Abnormal repe... |
ORPHA:353281 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:614830 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Thickened calvaria, Prematurely aged appearance, Abnormal dental enamel mo... |
ORPHA:2658 |
| Walker-Warburg Syndrome |
|
Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Cleft palat... |
ORPHA:899 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Thin upper lip vermilion, Long philtrum |
OMIM:614741 |
| White-Sutton Syndrome |
|
Cerebellar atrophy, Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, B... |
ORPHA:468678 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Microretrognathia, Frontal bossing, Depressed nasal bridge, Craniosynostosis, Micrognathia, Narro... |
OMIM:245600 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Wide nose, Abnormal pinna morphology, Epistaxis, Cryptorchidism, Bulbous nose, Tented philtrum, B... |
ORPHA:495818 |
| Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Depressed nasal bridge, Choroid plexus calcification, Pseudohypoparath... |
OMIM:103580 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Depressed nasal bridge, Micrognathia, Depressed nasal ridge, Cleft palate, ... |
OMIM:608022 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Prominent nose, Flat acetabular roof, Genu valgum, Abnormal mandible condylar process morphology,... |
ORPHA:2976 |
| Lacrimoauriculodentodigital Syndrome 2 |
|
Conical tooth, Carious teeth, Cupped ear, Microtia, Hypodontia, Microdontia, Hearing impairment |
OMIM:620192 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Enlargement of the ankles, Enlargement of the wrists, Widely patent fo... |
OMIM:264700 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Flat occiput, Brachycephaly |
ORPHA:2898 |
| Neu-Laxova Syndrome |
|
Dandy-Walker malformation, Abnormality of the philtrum, Spina bifida, Micrognathia, Trismus, Macr... |
ORPHA:2671 |
| Acrocephalopolydactyly |
|
Short nose, Microtia, Depressed nasal ridge, Oxycephaly |
ORPHA:221054 |
| Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Prominent nose, Thick lower lip vermilion, Prominent antihelix, Acrocyanosis, Cerebellar hypoplas... |
OMIM:614407 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Frontal bossing, Prominent superficial blood vessels, Narrow nasal ridge, Cryptorchidism, Brachyc... |
OMIM:219150 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Short nose, Abnormal palate morphology, Long philtrum |
ORPHA:1389 |
| Osteogenesis Imperfecta, Type Xvi |
|
Microretrognathia, Conductive hearing impairment, Tooth agenesis, Wormian bones, Bruising suscept... |
OMIM:616229 |
| Osteogenesis Imperfecta, Type Xi |
|
Protrusio acetabuli, Wormian bones, Dentinogenesis imperfecta, Hearing impairment |
OMIM:610968 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Depressed nasal bridge, Dolichocephaly, Prominent occiput, Respiratory fail... |
OMIM:617895 |
| Osteogenesis Imperfecta, Type Xiii |
|
Hearing impairment, Dentinogenesis imperfecta, Protruding ear, Thin vermilion border, Long philtr... |
OMIM:614856 |
| Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Conductive hea... |
OMIM:608257 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Thin upper lip vermilion, Anosmia, Genu valgum, Hypoplasia of the zygomatic bone, Abnormal nostri... |
ORPHA:1295 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Brachycephaly, Protruding ear, High palate, Ecchymosis, Long philtrum, Microretrognathia, Hiatus ... |
OMIM:601776 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Micrognathia, Downturned corners of mouth, Choanal stenosis, Severe sensorineural... |
OMIM:620186 |
| Velocardiofacial Syndrome |
|
Underdeveloped nasal alae, Aggressive behavior, Velopharyngeal insufficiency, Submucous cleft har... |
OMIM:192430 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Posteriorly rotated ears, Choanal atresia, Micrognathia, Cleft palate, Micr... |
OMIM:613309 |
| Fibrochondrogenesis 2 |
|
Frontal bossing, Anteverted nares, Micrognathia, Malar flattening, Short nose, Midface retrusion |
OMIM:614524 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Micrognathia, Cryptorchidism, Cleft li... |
OMIM:616894 |
| Congenital Myopathy 22A, Classic |
|
Frontal bossing, Dental crowding, Micrognathia, Scaphocephaly, Wide nasal bridge, Respiratory ins... |
OMIM:620351 |
| Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis, Cough, Dyspnea, Stridor, Choking episodes, Impaired orop... |
ORPHA:2004 |
| Silver-Russell Syndrome 1 |
|
Downturned corners of mouth, Delayed cranial suture closure, Micrognathia |
OMIM:180860 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Abnormality of the ... |
ORPHA:659 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla |
ORPHA:3044 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Depressed nasal bridge, Delayed closure of the anterior fontanelle, Micrognathia, Jaundice, Large... |
OMIM:614887 |
| Distal Duplication 5Q |
|
Prominent nasal bridge, Craniosynostosis, Micrognathia, Carious teeth, Thin vermilion border, Low... |
ORPHA:96097 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Nasal polyposis, Sinusitis, Bronchiectasis, Immotile cilia, Otitis media, C... |
OMIM:606763 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Wide nose, Frontal bossing, Dental crowding, Hearing impairment, Crypto... |
OMIM:616078 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Frontal bossing, Depressed nasal bridge, Anteverted nares, Craniosyn... |
ORPHA:1064 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Downturned corners of mouth, Thick vermilion... |
ORPHA:1185 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Abnormal dental enamel morphology, Cleft upper lip, Brachycephaly, Orofacial cleft, Cleft palate,... |
OMIM:601701 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Bulbous nose, Thin vermilion border, Low-set ears, Long philtrum, Hypoplasia of... |
OMIM:616420 |
| Hypoglossia-Hypodactyly Syndrome |
|
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Wide nasal bri... |
ORPHA:989 |
| Alagille Syndrome |
|
Frontal bossing, Telangiectasia of the skin, Micrognathia, Long nose, Cryptorchidism, Brachycepha... |
ORPHA:52 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Posteriorly rotated ears, Micrognathia, Wide nasal bridge, Respiratory insufficiency, Narrow mout... |
OMIM:224410 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Ventriculomegaly, Tented upper lip vermilion, Apnea, Micrognat... |
ORPHA:521426 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Carious teeth, Genu varum, Genu valgum, Hypoplasia of teeth |
OMIM:613312 |
| Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Wide nose, Dental crowding, Anteverte... |
ORPHA:769 |
| Esophageal Atresia |
|
Respiratory distress, Barrett esophagus, Cyanosis, Intestinal malrotation, Hearing impairment, Ch... |
ORPHA:1199 |
| Stickler Syndrome |
|
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge... |
ORPHA:828 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Mandibular prognathia, Thin upper lip vermilion, Frontal bossing, Disorganization of the anterior... |
OMIM:300486 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Depressed nasal bridge, Macroglossia, Prolonged neonatal jaundice, Umbilica... |
ORPHA:226313 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
| Rubinstein-Taybi Syndrome |
|
Abnormality of the dentition, Carious teeth, Micrognathia, Wide nasal bridge, Respiratory insuffi... |
ORPHA:783 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Cerebellar atrophy, Frontal bossing, Anal stenosis, Posteriorly rotated ears, Anteverted nares, D... |
OMIM:614080 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Ventriculomegaly, Tented upper lip vermilion, Posteriorly rotated ears, Apnea, Micrognathia, Resp... |
OMIM:617527 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
| Idiopathic Congenital Hypothyroidism |
|
Large posterior fontanelle, Depressed nasal bridge, Macroglossia, Prolonged neonatal jaundice, De... |
ORPHA:95717 |
| Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Frontal bossing, Abnormal pinna morphology, Anteverted nares, Long nose, Bulbo... |
ORPHA:261211 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the nose, Micrognathia, Cryptorchidism, Hydrocephalus, Orofacial cle... |
ORPHA:3301 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebellar atrophy, Death in infancy, Hydrocephalus, Increased CSF lactate, Colpocephaly, Increas... |
OMIM:616034 |
| Multiple Synostoses Syndrome 1 |
|
Thin upper lip vermilion, Stapes ankylosis, Proximal/middle symphalangism of 5th toe, Tarsal syno... |
OMIM:186500 |
| Lig4 Syndrome |
|
Prominent nose, Cryptorchidism, Asthma, Wide nasal bridge, Brachycephaly, Telangiectasia, Cutaneo... |
OMIM:606593 |
| Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Micrognathia, Osteo... |
ORPHA:740 |
| Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Telangiectasia of the skin, Abnormal dental enamel morphology, Selecti... |
ORPHA:2909 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Cerebellar atrophy, Gingival overgrowth, Alveolar ridge overgrowth, Br... |
OMIM:301072 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Cerebellar atrophy, Death in infancy, Wide nose, Protruding tongue, Micrognathia, Neonatal asphyx... |
OMIM:608779 |
| Microphthalmia, Syndromic 6 |
|
Uplifted earlobe, Micrognathia, Brachycephaly, Protruding ear, High palate, Bifid uvula, Cryptorc... |
OMIM:607932 |
| Cenani-Lenz Syndrome |
|
Frontal bossing, Abnormal dental enamel morphology, High, narrow palate, Protruding ear, Short ph... |
ORPHA:3258 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Prominent superficial veins, Dental c... |
OMIM:617402 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Cerebellar atrophy, Wide nose, Micrognathia, Large earlobe, Facial telangiectasia, Short nose, Ve... |
OMIM:615851 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Thin upper lip vermilion, Frontal bossing, Anteverted nares, Prominent nasal bridge, Brachycephal... |
OMIM:608688 |
| Trisomy 10P |
|
Wide cranial sutures, Posteriorly rotated ears, Anteverted nares, Abnormal auditory evoked potent... |
ORPHA:171929 |
| Bor Syndrome |
|
Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of the cochlea, Atr... |
ORPHA:107 |
| Cardiofaciocutaneous Syndrome 1 |
|
Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Micrognathia, Open bite, Abno... |
OMIM:115150 |
| 15Q11.2 Microdeletion Syndrome |
|
Dilated fourth ventricle, Abnormal pinna morphology, Abnormal palate morphology |
ORPHA:261183 |
| Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Wide cranial sutures, Prominent superficial veins, Dental crowding, Limited el... |
OMIM:614008 |
| X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Dental crowding, Brachycephaly, High palate, Short philtrum, Thickened hel... |
ORPHA:3063 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Single naris, Anosmia, Cleft palate, Absent nares, Hyposmia, Failure... |
ORPHA:2250 |
| Distal Triplication 15Q |
|
Craniosynostosis, Micrognathia, Hydrocephalus, Cupped ear, Sensorineural hearing impairment, Hydr... |
ORPHA:314588 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor, Ectodermal dysplasia |
OMIM:300291 |
| Eec Syndrome |
|
Abnormal dental enamel morphology, Decreased response to growth hormone stimulation test, Choanal... |
ORPHA:1896 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Prominent scalp veins, Cutis marmorata, Choanal atresia, Micrognathia, Abn... |
OMIM:151050 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Cleft palate, Bile duct proliferation, Dandy-Walker malfo... |
OMIM:607361 |
| Icf Syndrome |
|
Communicating hydrocephalus, Depressed nasal bridge, Protruding tongue, Micrognathia, Malabsorpti... |
ORPHA:2268 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Esophageal stricture, Fragile skin, Stenosis of the externa... |
ORPHA:79409 |
| Seckel Syndrome |
|
Prematurely aged appearance, Abnormal dental enamel morphology, Craniosynostosis, Micrognathia, C... |
ORPHA:808 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... |
ORPHA:2414 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
| Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Wide nasal bri... |
ORPHA:3079 |
| Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Prominent nasal bridge, Hypoplasia of the maxilla, Bulbous nose, Wide nasa... |
OMIM:609460 |
| Intellectual Developmental Disorder, X-Linked 1 |
|
Brachycephaly |
OMIM:309530 |
| B4Galt1-Cdg |
|
Thin upper lip vermilion, Hydrocephalus, Wide nasal bridge, Cerebellar hypoplasia, Low-set ears, ... |
ORPHA:79332 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Death in infancy, Dandy-Walker malformation, Frontal bossing, Hydrocephalus, Parti... |
OMIM:614643 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Death in infancy, Cleft upper lip, Hydrocephalus, Partial absence of cerebellar ve... |
OMIM:613150 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Micrognathia, Hydrocephalus, Cleft palate, Malar flattening, Midface retrusion |
OMIM:224400 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Oculocerebrocutaneous Syndrome |
|
External ear malformation, Cryptorchidism, Hydrocephalus, Orofacial cleft, Wide mouth, Cerebellar... |
ORPHA:1647 |
| Developmental And Epileptic Encephalopathy 75 |
|
Anteverted nares, Wide nasal bridge, Short philtrum, Prolonged neonatal jaundice, Open mouth, Sho... |
OMIM:618437 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Mandibular prognathia, Malar prominence, Wide mouth, Large earlobe, Hypoplasia of the zygomatic b... |
ORPHA:2715 |
| Folinic Acid-Responsive Seizures |
|
Cerebellar atrophy, Respiratory distress, Apnea, Sensorineural hearing impairment, Elevated CSF n... |
ORPHA:79097 |
| Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Enamel hypoplasia, Depressed nasal bridge |
OMIM:612462 |
| Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g... |
OMIM:175100 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Hyperactivity, Prominent nasal bridge, Micrognathia, Carious teeth, Br... |
OMIM:223370 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Broad nasal tip, Aggr... |
OMIM:619680 |
| Micro Syndrome |
|
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Anteverted nares, Micrognathia, ... |
ORPHA:2510 |
| Deeah Syndrome |
|
Death in infancy, Neonatal respiratory distress, Decreased response to growth hormone stimulation... |
OMIM:619004 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Abnormal pinna morphology, Abnormal external nose morphology, Hypoxemia, High palate, Hypoplasia ... |
ORPHA:556955 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Malabsorption, Carious teeth, Dyspnea, Xerostomia, Arthritis, Dysphag... |
ORPHA:220393 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Narrow nasal bridge, Thickened calvaria, Frontal bossing, Dental crowding, Prominent nose, Crypto... |
OMIM:300967 |
| Lathosterolosis |
|
Anteverted nares, Micrognathia, Bulbous nose, Meningocele, Gingival overgrowth, Downturned corner... |
ORPHA:46059 |
| Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Cupped ear, Xerostomia, Microtia, Widely spaced teeth, Enamel hypoplasia, Hearing ... |
OMIM:620193 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Protru... |
OMIM:301040 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Fusion of the left... |
OMIM:617542 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Mixed hearing impairment, Block vertebrae, Tarsal synostosis, Anteverted nares,... |
OMIM:272460 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Cryptorchidism, Respiratory insufficiency, High palate, Tongue fasciculations |
ORPHA:1145 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Respiratory failure requiring assisted ventilation, Anteverted nares, ... |
ORPHA:1675 |
| Pallister-Killian Syndrome |
|
Congenital hip dislocation, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, Cam... |
OMIM:601803 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... |
OMIM:610921 |
| Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Frontal bossing, Tented upper lip vermilion, Dental crowding, Micrognathia,... |
OMIM:620369 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Intestinal malrotation, Micrognathia, Hydrocephalus, Choroid plexus cys... |
OMIM:617866 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Dental crowding, Narrow nasal ridge, Micrognathia, Elbow fle... |
OMIM:248370 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Aganglionic megac... |
ORPHA:2318 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Short lingual frenulum, Posteriorly rotated ears, Bulbous nose, Brachycephaly, Anteriorly placed ... |
OMIM:608980 |
| Diprosopus |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1681 |
| Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival overgrowth, Gingival fibromatosis, Delayed eruption o... |
OMIM:204690 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Mixed hearing impairment, Choanal atresia, Prominent nasal bridge, Lop ear, Sensorineural hearing... |
OMIM:300472 |
| Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Brachycephaly, Downturned corners of mouth, Hypoplasia of the thymus, Small earlobe... |
OMIM:264090 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Impulsivity, Micrognathia, Aggressive behavior, Dental malocclusion, Wide nasal bridge, Localized... |
ORPHA:73223 |
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Wide mouth, Overfolded helix, Brachycephaly, Supernumerary nipple |
OMIM:616083 |
| Aica-Ribosiduria |
|
Wide mouth, Thin upper lip vermilion, Brachycephaly, Low-set ears |
ORPHA:250977 |
| Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Mandibular prognathia, Mixed hearing impairment, Cerebellar atrophy,... |
ORPHA:309282 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Micrognathia, Depressed nasal ridge, Protruding ear, High palate, Short ph... |
ORPHA:261337 |
| Congenital Toxoplasmosis |
|
Hydrocephalus, Jaundice, Ventriculomegaly, Hearing impairment |
ORPHA:858 |
| Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... |
ORPHA:922 |
| Macrocephaly/Autism Syndrome |
|
Frontal bossing, Depressed nasal bridge, Hydrocele testis, High palate, Biparietal narrowing, Lon... |
OMIM:605309 |
| Tarp Syndrome |
|
Posteriorly rotated ears, Anteverted nares, Micrognathia, Large fontanelles, Wide nasal bridge, C... |
OMIM:311900 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Flat occiput, Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corpus callosum... |
ORPHA:300570 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Short ear, Wide nose, Anteverted nares, Aggressive behavior, Narrow mouth, Bulbous nose, Thick lo... |
ORPHA:314647 |
| Fetal Hydantoin Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Cryptorchidism, Hearing abnormality... |
ORPHA:1912 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Frontal bossing, Depressed nasal bridge, Decreased response to growth hormone stimulation test, H... |
OMIM:614114 |
| Microcephaly-Micromelia Syndrome |
|
Wide nose, Craniosynostosis, Micrognathia, Humeroradial synostosis, Cleft palate, Low-set ears, N... |
OMIM:251230 |
| Oslam Syndrome |
|
Carious teeth, Radioulnar synostosis |
ORPHA:2760 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Frontal bossing, Lip pit, Supernumerary nipple, Brachycephaly, Large earlo... |
ORPHA:1236 |
| Osteogenesis Imperfecta, Type Xviii |
|
Wormian bones, Abnormality of the dentition, Wide nasal bridge, Micrognathia |
OMIM:617952 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Pierre-Robin sequence, Cleft palate, Cervical myelopathy, Restrictive venti... |
OMIM:183900 |
| Peho Syndrome |
|
Cerebellar atrophy, Tented upper lip vermilion, Open mouth, Retrognathia, Short nose |
OMIM:260565 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Flat occiput, Dental crowding, Micrognathia, Deep phi... |
ORPHA:534 |
| Plasminogen Deficiency, Type I |
|
Duodenal ulcer, Hydrocephalus, Recurrent upper respiratory tract infections, Gingival overgrowth,... |
OMIM:217090 |
| Cadds |
|
Cerebellar atrophy, Micrognathia, Sensorineural hearing impairment, Short nose, Ventriculomegaly |
ORPHA:369942 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Prominent metopic ridge, Wide nose, Micrognathia, Prominent nose, Long nose, Large fontanelles, W... |
ORPHA:2995 |
| Laurence-Moon Syndrome |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Brachycephal... |
ORPHA:2377 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Cerebellar atrophy, Death in infancy, Hydrocephalus, Esophageal varix, Inflammation of the large ... |
OMIM:614576 |
| Lissencephaly 5 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Cerebellar hemisphere hypop... |
OMIM:615191 |
| Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Ulnar deviation of the wrist, Grayish enamel, Carious teeth, Recurrent upp... |
OMIM:253000 |
| Pachyonychia Congenita 2 |
|
Natal tooth, Oral leukoplakia, Angular cheilitis |
OMIM:167210 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth, A... |
OMIM:276950 |
| Jalili Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Thin upper lip vermilion, Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Wide nasal bri... |
OMIM:615803 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Intestinal obstruction, Sinusitis, Nasal polyposis, Cutis marmorata, Malabsorption, Cough, Asthma... |
ORPHA:183 |
| Smith-Lemli-Opitz Syndrome |
|
Micrognathia, Holoprosencephaly, Biparietal narrowing, Advanced eruption of teeth, Aplasia/Hypopl... |
ORPHA:818 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Brachycephaly, Increased CSF lactate |
ORPHA:70472 |
| Tolchin-Le Caignec Syndrome |
|
Abnormal vestibular function, Micrognathia, Prominent nose, Sensorineural hearing impairment, Sub... |
OMIM:618971 |
| C Syndrome |
|
Posteriorly rotated ears, Anteverted nares, Accessory oral frenulum, Micrognathia, Cryptorchidism... |
OMIM:211750 |
| Craniofrontonasal Syndrome |
|
Frontal bossing, Cleft upper lip, Abnormality of the dentition, Cryptorchidism, Bifid nasal tip, ... |
OMIM:304110 |
| Oromandibular Dystonia |
|
Respiratory distress, Abnormality of the temporomandibular joint, Abnormality of the nose, Abnorm... |
ORPHA:93958 |
| 47,Xyy Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Hydrocephalus, Asthma, Dysgenesis of th... |
ORPHA:8 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Carious teeth, Mixed hearing impairment |
OMIM:126550 |
| Bartsocas-Papas Syndrome |
|
Median cleft lip, Underdeveloped nasal alae, Micrognathia, Cleft palate, Narrow mouth, Short nose |
ORPHA:1234 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Micrognathia, Tracheobronchomalacia, Protruding ear, Microdontia, Bif... |
OMIM:613458 |
| Warburg Micro Syndrome 4 |
|
Cerebellar atrophy, Anteverted nares, Prominent nasal bridge, Cryptorchidism, Narrow mouth, Brach... |
OMIM:615663 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Enlargement of the wr... |
ORPHA:289157 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Anteverted nares, Abnormality of the dentition, Sensorineural hearing impairment, Short nose, Dow... |
OMIM:612394 |
| Waardenburg Syndrome Type 3 |
|
Narrow nasal bridge, Tented upper lip vermilion, Camptodactyly of finger, Tracheomalacia, Acrocya... |
ORPHA:896 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Recurrent upper respiratory tract infections... |
ORPHA:60032 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Anteverted ears, Cerebellar hypoplasia, Short nose, Cerebellar vermis atrophy |
OMIM:618087 |
| Schneckenbecken Dysplasia |
|
Cleft palate, Stillbirth, Umbilical hernia, Short nose, Malar flattening, Midface retrusion |
OMIM:269250 |
| Trisomy 18 |
|
Microretrognathia, Low-set, posteriorly rotated ears, Choanal atresia, Spina bifida, Dolichocepha... |
ORPHA:3380 |
| Miller-Dieker Syndrome |
|
Abnormal upper lip morphology, Short nose, Anteverted nares |
ORPHA:531 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Micrognathia, Cleft upper lip, Cryptorchidism, Hydrocephalus, Meningoenc... |
OMIM:236670 |
| Chitayat Syndrome |
|
Respiratory distress, Anteverted nares, Depressed nasal bridge, Short columella, Thick vermilion ... |
OMIM:617180 |
| Robinow Syndrome |
|
Dental crowding, Micrognathia, Orofacial cleft, Anteverted nares, Depressed nasal bridge, Persist... |
ORPHA:97360 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele, Chiari malformation |
ORPHA:261102 |
| Semilobar Holoprosencephaly |
|
Central apnea, Median cleft lip, Decreased response to growth hormone stimulation test, Proboscis... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Central apnea, Median cleft lip, Decreased response to growth hormone stimulation test, Proboscis... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Median cleft lip, Decreased response to growth hormone stimulation test, Proboscis... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Central apnea, Median cleft lip, Decreased response to growth hormone stimulation test, Proboscis... |
ORPHA:93924 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Hip contracture, Thin upper lip vermilion, Posteriorly rotated ears, Broad nasa... |
OMIM:619194 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Anteverted nares, Depressed nasal bridge, Cry... |
ORPHA:1340 |
| Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Posterio... |
OMIM:615873 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Frontal bossing, Micrognathia, Short nose, Hearing impairment |
OMIM:256600 |
| Stankiewicz-Isidor Syndrome |
|
Micrognathia, Prominent nose, Cryptorchidism, Pineal cyst, Low-set ears, Retrognathia, Hearing im... |
OMIM:617516 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Cerebellar atrophy, Tented upper lip vermilion, Exaggerated cupid's bow, Depr... |
ORPHA:369837 |
| Contractural Arachnodactyly, Congenital |
|
Frontal bossing, Micrognathia, Scaphocephaly, Brachycephaly, High palate, Dolichocephaly, Crumple... |
OMIM:121050 |
| Ablepharon Macrostomia Syndrome |
|
Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Underdeveloped nasal alae, Hyp... |
ORPHA:920 |
| Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cleft upper lip, Cryptorchidism, Clef... |
OMIM:615849 |
| Iniencephaly |
|
Encephalocele, Spina bifida, Abnormal occipital bone morphology, Hydrocephalus, Myelomeningocele,... |
ORPHA:63259 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Wide nose, Depressed nasal ridge, Short nose |
ORPHA:2831 |
| Renpenning Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Macrodontia, Micrognathia, Bulbous nose, Cupped ... |
OMIM:309500 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Wide anterior fontanel, Pyloric stenosis, Pneumothorax, Hip dislocation, Recurrent pneumonia, Res... |
ORPHA:90349 |
| Lead Poisoning |
|
Delayed eruption of teeth, Miscarriage, Anorexia, Asthma, Abnormal respiratory system physiology,... |
ORPHA:330015 |
| Coffin-Siris Syndrome 1 |
|
Conical tooth, Partial agenesis of the corpus callosum, Brachycephaly, High palate, Short philtru... |
OMIM:135900 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Abnormal thalamic MRI signal intensity, Stridor, Respiratory failure, Paroxysmal dyspnea |
ORPHA:444013 |
| X-Linked Intellectual Disability, Armfield Type |
|
Mandibular prognathia, Depressed nasal bridge, Micrognathia, Cryptorchidism, Brachycephaly, Cleft... |
ORPHA:85276 |
| Trisomy 8P |
|
Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Hydrocephalus... |
ORPHA:264450 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Uplifted earlobe, Brachycephaly, Short philtrum, Widely spaced teeth, Conductive hearing impairme... |
OMIM:280000 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Angiokeratoma, Gingival fibromatosis, Narrow palate, Telangiectasia, J... |
OMIM:266270 |
| Mogs-Cdg |
|
Respiratory distress, Absent brainstem auditory responses, Wide nose, Hypoventilation, Apnea, Sen... |
ORPHA:79330 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Supernum... |
OMIM:617088 |
| Buratti-Harel Syndrome |
|
Posteriorly rotated ears, Velopharyngeal insufficiency, Submucous cleft hard palate, Recurrent pn... |
OMIM:619314 |
| Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, No... |
OMIM:618699 |
| Specc1L-Related Hypertelorism Syndrome |
|
Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Orofacial cleft, Brachycephaly, Thin v... |
ORPHA:1519 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Frontal bossing, Hydrocephalus, Depressed nasal ridge, Low-set ears, Short nose |
OMIM:300863 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Anteverted nares, Depressed nasal bridge, Broad nasal tip, High palate, Low-set ears, Wormian bon... |
OMIM:300232 |
| Pelvis-Shoulder Dysplasia |
|
Abnormal pinna morphology, Spina bifida, Micrognathia, Hydrocephalus, Cleft palate, Microtia, Thi... |
ORPHA:2839 |
| Tularemia |
|
Respiratory distress, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Oral ulcer, Otitis m... |
ORPHA:3392 |
| Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Bulbous nose, Brachycephaly, Downturned corners of mouth, Macroglossia, Wide mou... |
OMIM:618268 |
| Mycophenolate Mofetil Embryopathy |
|
Micrognathia, Hydrocephalus, Tracheoesophageal fistula, Orofacial cleft, Anotia, Microtia, Atresi... |
ORPHA:268249 |
| Congenital Fibrinogen Deficiency |
|
Cyanosis, Gingival bleeding, Volvulus, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
| Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Coach Syndrome 2 |
|
Apneic episodes in infancy, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:619111 |
| 1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
| Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Delayed eruption of teeth, Posteriorly rotated ears, Broad nasal tip, Ging... |
OMIM:135500 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, Large fleshy ears, High palate, Prominent superior crus of antihelix,... |
ORPHA:280633 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Ap... |
OMIM:619503 |
| Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterior fontanelle... |
ORPHA:2834 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the maxilla, High, narrow palate, A... |
ORPHA:1101 |
| Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Hyperactivity, Anteverted nares, Depressed n... |
ORPHA:1465 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Brachycephaly, Protruding ear, Posterior pla... |
OMIM:620330 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Frontal bossing, Depressed nasal bridge, Lymphoid nodular hyperplasia, Shor... |
ORPHA:210548 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Zttk Syndrome |
|
Hypoplasia of the maxilla, Protruding ear, Downturned corners of mouth, High palate, Short philtr... |
OMIM:617140 |
| Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Posteriorly rotated ears, Prominent nasal bridge, Asymmetry of the ear... |
OMIM:300166 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
| Schimke Immuno-Osseous Dysplasia |
|
Depressed nasal bridge, Broad nasal tip, Abnormal primary molar morphology, Abnormal intestine mo... |
ORPHA:1830 |
| Rothmund-Thomson Syndrome Type 2 |
|
Delayed eruption of teeth, Joint dislocation, Slender nose, Abnormal dental enamel morphology, Ab... |
ORPHA:221016 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Tented upper lip vermilion, Hydrocephalus, Craniofacial osteosclerosis, Bulbous nose, Chiari type... |
OMIM:618476 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Mandibular prognathia, Death in infancy, Respiratory distress, Respiratory failure, High palate, ... |
OMIM:620278 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... |
OMIM:265120 |
| Kenny-Caffey Syndrome, Type 1 |
|
Carious teeth, Calvarial osteosclerosis, Delayed closure of the anterior fontanelle |
OMIM:244460 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Brachycephaly, Craniosynostosis |
OMIM:614416 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Cerebellar hypoplasia |
ORPHA:352682 |
| Meckel Syndrome 12 |
|
Anteverted nares, Micrognathia, Antecubital pterygium, Wide nasal bridge, Low-set ears, Bifid uvula |
OMIM:616258 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Craniosynostosis, ... |
OMIM:614732 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Carious teeth, Enamel hypoplasia, Facial erythema |
OMIM:612843 |
| Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Absent brainstem auditory responses, Delayed eruption of primary teeth, Ab... |
ORPHA:90321 |
| Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones |
ORPHA:2773 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis |
OMIM:610773 |
| Lelis Syndrome |
|
Mandibular prognathia, Carious teeth, Hypodontia, Furrowed tongue |
ORPHA:140936 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Choanal atresia, Micrognathia, Brachycephaly, Choanal stenosis, Tooth malposi... |
OMIM:156400 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Wide nose, Abnormal dental enamel morphology, Hearing impairment, Micrognat... |
ORPHA:2556 |
| Synaptic Congenital Myasthenic Syndromes |
|
Mandibular prognathia, Hypoventilation, Respiratory distress, Neonatal respiratory distress, Resp... |
ORPHA:98915 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Sensorineural ... |
OMIM:614207 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Frontal bossing, Allergic rhinitis, Hydrocephalus, Asthma, Chiari malformation, High palate, Plat... |
OMIM:618162 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne... |
ORPHA:2549 |
| Gardner Syndrome |
|
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... |
ORPHA:79665 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Downturned corners of mouth, Thin vermilion border, Short phil... |
ORPHA:2983 |
| Hajdu-Cheney Syndrome |
|
Wide nose, Anteverted nares, Intestinal malrotation, Micrognathia, Absent frontal sinuses, Conduc... |
OMIM:102500 |
| Spinocerebellar Ataxia 2 |
|
Dilated fourth ventricle, Cerebellar atrophy, Olivopontocerebellar atrophy |
OMIM:183090 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... |
OMIM:610913 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Aqueductal... |
OMIM:154400 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Mixed hearing impairment, Carious teeth, Cupped ear, Dental malocclusion, Wide... |
OMIM:615560 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Narrow joint spaces of the elbow, Dental crowding, Delayed closure of the anterior fontanelle, Mi... |
ORPHA:96182 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Persistence of primary teeth, Micrognathia, Abnormality of the dentition, Macrotia, Thick lower l... |
ORPHA:2785 |
| Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Posteriorly rotated ears, Intestinal malrotation, Hamartoma of ton... |
OMIM:269860 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Tracheomalacia, Micrognath... |
ORPHA:513456 |
| Carpenter Syndrome 2 |
|
Bilateral cryptorchidism, High, narrow palate, Brachycephaly, Protruding ear, High palate, Anteve... |
OMIM:614976 |
| Alexander Disease Type I |
|
Cerebellar atrophy, Hydrocephalus, Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Frontal bossing, Craniosynostosis, Carious teeth, Hydrocephalus, Calvarial osteosclerosis, Hearin... |
OMIM:259700 |
| Mend Syndrome |
|
Microretrognathia, Smooth philtrum, Posteriorly rotated ears, Prominent nasal bridge, Micrognathi... |
OMIM:300960 |
| Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Death in infancy, Frontal bossing, Anteverted nares, Apnea, Micrognathia, Carious te... |
OMIM:601559 |
| Arima Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Dyspnea, T... |
OMIM:243910 |
| Peters Plus Syndrome |
|
Micrognathia, Brachycephaly, Widely spaced teeth, Conductive hearing impairment, Spina bifida occ... |
ORPHA:709 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Mandibular prognathia, Frontal bossing, Cerebellar atrophy, Posterio... |
OMIM:617011 |
| Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Micrognathia, Hip dislocatio... |
ORPHA:958 |
| 8P23.1 Microdeletion Syndrome |
|
Prominent nasal bridge, Micrognathia, External ear malformation, Cryptorchidism, Wide nasal bridg... |
ORPHA:251071 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Choanal atres... |
OMIM:129900 |
| Atelosteogenesis, Type I |
|
Encephalocele, Frontal bossing, Depressed nasal bridge, Micrognathia, Cryptorchidism, Cleft palat... |
OMIM:108720 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Submucous cleft hard palate, Bifid uvula |
OMIM:619239 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Short nose, Macrotia |
OMIM:620292 |
| Hurler Syndrome |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Hydrocephalus, Crania... |
OMIM:607014 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Cerebellar atrophy, Micrognathia, Cryptorchidism, Short nose |
ORPHA:496790 |
| Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Midface retrusion, Micrognathia, Pyloric stenosis, Recurrent pneumonia, Dec... |
OMIM:613848 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Non-midline cleft lip, Ectopic anus, Cleft palate |
ORPHA:2476 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, High palate, Otitis media, Compulsive behaviors, Conductive hearin... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, High palate, Otitis media, Compulsive behaviors, Conductive hearin... |
ORPHA:353277 |
| Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion |
ORPHA:50251 |
| Desbuquois Dysplasia 1 |
|
Microretrognathia, Neonatal respiratory distress, Depressed nasal bridge, Narrow mouth, Concave n... |
OMIM:251450 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Cyanosis, Dyspnea, Vertigo, Hypoxemia |
ORPHA:464453 |
| Floating-Harbor Syndrome |
|
Enlarged joints, Hypoplasia of the maxilla, Long nose, Oligodontia, Short philtrum, Compulsive be... |
ORPHA:2044 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... |
ORPHA:79126 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Short lingual frenulum, Partial anosmia, Total anosmia, Bilateral cryptorchidism, Midgu... |
ORPHA:2326 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Prematurely aged appearance, Telangiectasia of the skin, Craniosynostosis, ... |
ORPHA:3342 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Hy... |
ORPHA:264675 |
| Codas Syndrome |
|
Delayed eruption of teeth, Congenital hip dislocation, Anteverted nares, Depressed nasal bridge, ... |
OMIM:600373 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
| Tetrasomy 18P |
|
Low-set, posteriorly rotated ears, Thin vermilion border, Narrow mouth, Short nose, Long philtrum |
ORPHA:3307 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Cleft soft palate, Prominent nasal bridge,... |
ORPHA:268261 |
| Spinocerebellar Ataxia 1 |
|
Dilated fourth ventricle, Olivopontocerebellar atrophy, Spinocerebellar atrophy |
OMIM:164400 |
| 17Q24.2 Microdeletion Syndrome |
|
Thin upper lip vermilion, Otosclerosis, Micrognathia, Aggressive behavior, Tooth malposition, Wid... |
ORPHA:529962 |
| Dyskeratosis Congenita |
|
Esophageal stenosis, Telangiectasia of the skin, Malabsorption, Hypoplasia of the maxilla, Cariou... |
ORPHA:1775 |
| Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Anteverted nares, Depressed nasal bridge, Protruding tongue, Micrognathia, Low-set e... |
ORPHA:50945 |
| Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Anteverted nares, Partial agenesis of the corpus callosum, Retrognathia, Hypoplasia of teeth, Sho... |
OMIM:234050 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Carious teeth, Premature loss of teeth, Oral leukoplakia |
OMIM:616353 |
| Familial Thyroid Dyshormonogenesis |
|
Large posterior fontanelle, Depressed nasal bridge, Sensorineural hearing impairment, Macroglossi... |
ORPHA:95716 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Cerebellar hypoplasia |
OMIM:618174 |
| Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Anteverted nares, Abnormal dental enamel morphology, Grayish enamel, Carious t... |
ORPHA:582 |
| Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Lobulated tongue, High palate, Chronic otitis media, Abnormal dental enamel morphol... |
ORPHA:2750 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Tracheoesophageal fistula, Upper airway obstruction, Stridor, Coug... |
ORPHA:142 |
| Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Frontal bossing, Odontogenic keratocysts of the jaw, Ovarian fibroma, Spin... |
OMIM:109400 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress |
ORPHA:26792 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Apnea, Premature loss of primary teeth, Craniosynostosis, Otitis media... |
ORPHA:667 |
| Absent Eyebrows And Eyelashes With Mental Retardation |
|
Encephalocele, Short nose, Convex nasal ridge |
OMIM:200130 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Abnormal dental e... |
ORPHA:464 |
| Fraser Syndrome 1 |
|
Cleft ala nasi, Dental crowding, Choanal stenosis, Conductive hearing impairment, Hypoplastic sup... |
OMIM:219000 |
| Silver-Russell Syndrome |
|
Low-set, posteriorly rotated ears, Dental crowding, Micrognathia, Downturned corners of mouth, Th... |
ORPHA:813 |
| Machado-Joseph Disease |
|
Dilated fourth ventricle, Cerebellar atrophy |
OMIM:109150 |
| Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Depressed nasal bridge, Pneumonia, Carious teeth, Hydrocephalus, Recur... |
OMIM:253200 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sensorineural hearing imp... |
OMIM:220110 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis... |
OMIM:604292 |
| Rodrigues Blindness |
|
Narrow nasal bridge, Nasal flaring, Protruding ear, Ectodermal dysplasia, Tooth malposition |
OMIM:268320 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Advanced eruption of teeth |
ORPHA:2348 |
| Houge-Janssens Syndrome 1 |
|
Pyloric stenosis, Hydrocephalus, Open mouth, Ventriculomegaly |
OMIM:616355 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Thin upper lip vermilion, Posteriorly rotated ears, Choanal atresia, Underdev... |
ORPHA:163979 |
| Jacobsen Syndrome |
|
U-Shaped upper lip vermilion, Flat occiput, Anteverted nares, Depressed nasal bridge, Micrognathi... |
OMIM:147791 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis |
OMIM:250800 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Micrognathia, Prominent nose, Brachycephaly, Protruding ear, High palate, ... |
OMIM:612474 |
| Kbg Syndrome |
|
Tented upper lip vermilion, Macrodontia, Posteriorly rotated ears, Anteverted nares, Prominent na... |
OMIM:148050 |
| Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
| Oliver Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Dental malocclusion, Elbow flexion contracture, K... |
ORPHA:2920 |
| Papillary Tumor Of The Pineal Region |
|
Hearing abnormality, Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Micrognathia, Brachycephaly, Neonatal death, Neonatal respiratory distress, Esophageal atresia, C... |
OMIM:265380 |
| Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Abnormal lateral ventricle morphology, Decreased response to growth ho... |
ORPHA:1855 |
| Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... |
ORPHA:95430 |
| Histiocytoid Cardiomyopathy |
|
Cyanosis, Hydrocephalus, Tachypnea, Cleft palate, Polycystic ovaries, Cough, Cerebellar malformat... |
ORPHA:137675 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Death in infancy, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Long philtrum, ... |
ORPHA:955 |
| Microlissencephaly-Micromelia Syndrome |
|
Hypoparathyroidism, Respiratory distress, Cerebellar hypoplasia, Long philtrum, Short nose |
ORPHA:50810 |
| Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Mixed hearing impairment, Cerebellar vermis hypoplasia, Intestinal m... |
OMIM:620305 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, ... |
ORPHA:1454 |
| Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ... |
OMIM:150400 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Thick lower lip vermilion... |
OMIM:619854 |
| Isotretinoin-Like Syndrome |
|
Anteverted nares, Micrognathia, Hydrocephalus, Aplasia/Hypoplasia of the inner ear, Cleft palate,... |
ORPHA:2306 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Supernumerary tooth, Adenomatous colonic polyposis, Esophageal carcinoma, Mul... |
ORPHA:247806 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Streak ovary, Jejunal atresia, Acrania, Ileal atresia, Micrognathia, C... |
OMIM:618820 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Absent frontal sinuses, Anosmia, Bronchi... |
OMIM:244400 |
| Machado-Joseph Disease Type 1 |
|
Dilated fourth ventricle, Abnormal vestibular function, Cerebellar atrophy |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Dilated fourth ventricle, Abnormal vestibular function, Cerebellar atrophy |
ORPHA:276241 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Frontal bossing, Wide nose, Anteverted nares, Cutis marmorata, Abnormal lar... |
ORPHA:109 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Smooth philtrum, Chronic lung disease, Acute respiratory distress syndrome, Depressed nasal bridg... |
OMIM:620005 |
| Dermotrichic Syndrome |
|
Frontal bossing, Depressed nasal bridge, Aganglionic megacolon, Short nose, Macrotia |
ORPHA:99688 |
| Achard Syndrome |
|
Broad skull, Brachycephaly, Micrognathia |
OMIM:100700 |
| Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw |
ORPHA:199276 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress, Sensorineural hearing impairment |
ORPHA:2596 |
| Say-Barber-Miller Syndrome |
|
Low-set, posteriorly rotated ears, Prominent nasal bridge, Craniosynostosis, Micrognathia, Cariou... |
ORPHA:3132 |
| Cornelia De Lange Syndrome |
|
Micrognathia, Brachycephaly, Downturned corners of mouth, High palate, Widely spaced teeth, Condu... |
ORPHA:199 |
| Coffin-Siris Syndrome 12 |
|
Micrognathia, Protruding ear, High palate, Simple ear, Anteverted nares, Depressed nasal bridge, ... |
OMIM:619325 |
| 1Q21.1 Microdeletion Syndrome |
|
Frontal bossing, Cryptorchidism, Hydrocephalus, Sensorineural hearing impairment, Bulbous nose, W... |
ORPHA:250989 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Cryptorchidism, Low-set ears, Conductive hearing impairment, Short nose |
OMIM:616910 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Frontal bossing, Depressed nasal bridge, Narrow nasal ridge, Micrognathia, Underdeveloped nasal a... |
OMIM:619127 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Frontal bossing, Posteriorly rotated ears, Hydrocephalus, Sensorineu... |
OMIM:615219 |
| Microphthalmia, Syndromic 1 |
|
Aganglionic megacolon, Dental crowding, Abnormal pinna morphology, Cleft upper lip, Cryptorchidis... |
OMIM:309800 |
| Denys-Drash Syndrome |
|
Neonatal death, Wide anterior fontanel, Neonatal respiratory distress |
OMIM:194080 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Depressed nasal bridge, Micrognathia, Wide nasal bridge, Brachycephaly, Wide mouth, Thin vermilio... |
ORPHA:2062 |
| Myhre Syndrome |
|
Mandibular prognathia, Vertebral fusion, Thin upper lip vermilion, Prominent nasal bridge, Hypopl... |
OMIM:139210 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Absent nipple, Depressed nasal bridge, Hydrocephalus, Wide nasal bridge, High palate, Low-set ear... |
OMIM:104350 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure, Progressive hearing impairment, Ventriculomegaly |
OMIM:620166 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus, Macrotia |
OMIM:300886 |
| Cousin Syndrome |
|
Frontal bossing, Posteriorly rotated ears, Micrognathia, Hydrocephalus, Alveolar ridge overgrowth... |
OMIM:260660 |
| Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Depressed nasal bridge, Decreased response to growth hormone stimulati... |
ORPHA:94089 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Frontal bossing, Tented upper lip vermilion, Depressed nasal bridge, Craniosynostosis, Microtia, ... |
OMIM:616723 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Prominent superficial veins, Depressed nasal bridge, Pyloric stenosis, Dysp... |
ORPHA:363705 |
| Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dyspnea, U... |
ORPHA:100050 |
| Hsd10 Disease, Infantile Type |
|
Restlessness, Cyanosis, Dysphagia, Paroxysmal bursts of laughter, Hearing impairment |
ORPHA:391428 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Brachycephaly |
OMIM:309541 |
| Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Intestinal obstruction, Malabsorption, Macrotia, Asthma, Protruding ear, Telang... |
OMIM:601675 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Dysplastic corpus callosum, Sensorineural hearing impairment, Lateral ventricle dilatat... |
ORPHA:488627 |
| 3Q29 Microdeletion Syndrome |
|
Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Orofacial cleft, Short phi... |
ORPHA:65286 |
| Fanconi Anemia, Complementation Group L |
|
Micrognathia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft palate, Wide na... |
OMIM:614083 |
| Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Enterocolitis, Abnorm... |
ORPHA:90051 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Increased CSF lactate |
OMIM:612075 |
| Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
| Noonan Syndrome 3 |
|
Frontal bossing, Hypoplastic nasal bridge, Posteriorly rotated ears, Anteverted nares, Sagittal c... |
OMIM:609942 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ... |
ORPHA:352665 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Depressed nasal bridge, Conductive hearing impairment, Sensorineural hearing ... |
OMIM:618500 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Cerebellar vermis hypoplasia, Depressed nasal bridge, Brachycephaly, Low-set ears |
OMIM:612379 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Frontal bossing, Dental crowding, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Rect... |
OMIM:617157 |
| Machado-Joseph Disease Type 3 |
|
Dilated fourth ventricle, Abnormal vestibular function, Cerebellar atrophy |
ORPHA:276244 |
| Jacobsen Syndrome |
|
Agenesis of corpus callosum, Broad columella, Abnormality of the anus, Low-set, posteriorly rotat... |
ORPHA:2308 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Abnormal pinna morphology, Choanal atresia, Absent tragus, Cleft lip,... |
OMIM:603457 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... |
ORPHA:36238 |
| Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Ulnar deviation of the wrist, Grayish enamel, Carious teeth, Recurrent upp... |
OMIM:253010 |
| Weill-Marchesani Syndrome 1 |
|
Hypoplasia of the maxilla, Tooth malposition, Depressed nasal bridge, Narrow palate |
OMIM:277600 |
| Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Cario... |
ORPHA:221008 |
| White-Kernohan Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, U... |
OMIM:619426 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Prominent nose, Long nose, Bulbo... |
ORPHA:3047 |
| Fucosidosis |
|
Abnormality of the dentition, Brachycephaly, Acrocyanosis, Vascular skin abnormality, Hearing imp... |
ORPHA:349 |
| Mgat2-Cdg |
|
Low-set, posteriorly rotated ears, Respiratory distress, Dental crowding, Posteriorly rotated ear... |
ORPHA:79329 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... |
OMIM:610910 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Thin upper lip vermilion, Wide nose, Abnormal pinna morphology, Cryptorchid... |
OMIM:607143 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Orofacial cleft, Ventriculomegaly |
OMIM:615630 |
| Al-Raqad Syndrome |
|
Thin upper lip vermilion, Short nose, Low-set ears, Narrow mouth |
OMIM:616459 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure... |
OMIM:614299 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
| 22Q11.2 Deletion Syndrome |
|
Micrognathia, Hypoplasia of the thymus, Short philtrum, Conductive hearing impairment, Chronic ot... |
ORPHA:567 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Craniosynostosis, Malabsorption, Abnormal sacroiliac joint morphology,... |
ORPHA:289176 |
| Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
| D-Bifunctional Protein Deficiency |
|
Depressed nasal bridge, Micrognathia, Large fontanelles, High palate, Low-set ears, Long philtrum... |
OMIM:261515 |
| Joubert Syndrome 38 |
|
Frontal bossing, Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Posteriorly rotated e... |
OMIM:619476 |
| Corneodermatoosseous Syndrome |
|
Abnormal dental enamel morphology, Carious teeth, Erythema, Gingivitis, Hearing impairment |
ORPHA:3194 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Thin upper lip vermilion, Micrognathia, Knee flexion contracture, Oligodontia, H... |
OMIM:210730 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Posteriorly rotated ears, Cleft upper lip, Cryptorchidism, Hydrocephalus, Holopros... |
OMIM:264480 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose, Midface retrusion, Inspiratory stridor |
OMIM:618618 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Respiratory distress, Micrognathia, Trismus, Bulbous nose, Recurrent pneumoni... |
OMIM:616271 |
| Hurler Syndrome |
|
Death in infancy, Frontal bossing, Anteverted nares, Depressed nasal bridge, Hydrocephalus, Wide ... |
ORPHA:93473 |
| Fraser Syndrome 3 |
|
Wide nose, Micrognathia, Hydrocephalus, Stillbirth, Low-set ears, Convex nasal ridge, Simple ear |
OMIM:617667 |
| Charge Syndrome |
|
Aqueductal stenosis, Hypoplasia of the semicircular canal, Holoprosencephaly, Aplasia/Hypoplasia ... |
ORPHA:138 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Midface retrusion, Depressed nasal bridge, Anterior pituitary hypopl... |
ORPHA:226307 |
| Axial Mesodermal Dysplasia Spectrum |
|
Micrognathia, Hydrocephalus, Tracheoesophageal fistula, Gingival overgrowth, Microtia, Abnormal i... |
ORPHA:1834 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Frontal bossing, Anteverted nares, Depressed nasal bridge, Abnormality of ... |
OMIM:271510 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Cleft soft palate, Convex nasal ridge, Hydrocephalus, Downturned corners ... |
OMIM:619321 |
| Lymphatic Malformation 5 |
|
Cleft palate |
OMIM:153200 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Absent trapezium, Pulp calcification, Absent scaphoid, Absent trapezoid bone, Microdontia, Distal... |
OMIM:606895 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| Osteogenesis Imperfecta |
|
Abnormality of dental color, Micrognathia, Brachycephaly, Dentinogenesis imperfecta, Neonatal res... |
ORPHA:666 |
| Cockayne Syndrome A |
|
Mandibular prognathia, Slender nose, Reduced subcutaneous adipose tissue, Cerebellar atrophy, Abn... |
OMIM:216400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Cerebellar cyst |
OMIM:615181 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Wormian bones |
ORPHA:2787 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Flat occiput, Posteriorly rotated ears, Depressed nasal ridge, Exencephaly, Wide n... |
ORPHA:2211 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Depressed nasal bridge, Hamartoma of tongue, Accessory oral frenulu... |
OMIM:616546 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Death in childhood, Shor... |
OMIM:618961 |
| Thanatophoric Dysplasia, Type I |
|
Frontal bossing, Neonatal respiratory distress, Cloverleaf skull, Hydrocephalus, Neonatal death, ... |
OMIM:187600 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Mandibular prognathia, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prom... |
OMIM:300912 |
| Pseudoaminopterin Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Hypoplasia of the antihelix, Prominent nasal ... |
ORPHA:221120 |
| Limb-Mammary Syndrome |
|
Cleft hard palate, Cleft lip, Cleft palate, Protruding ear, Hypodontia, Submucous cleft soft pala... |
ORPHA:69085 |
| Bartsocas-Papas Syndrome 1 |
|
Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Underdeveloped nasal ala... |
OMIM:263650 |
| Familial Adenomatous Polyposis |
|
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... |
ORPHA:733 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Abnormal pinna morphology, Hydrocephalus, Vertigo, Small pituitary gland, Severe sensorineural he... |
OMIM:614195 |
| Vacterl With Hydrocephalus |
|
Microtia, third degree, Spina bifida, Micrognathia, Aqueductal stenosis, Cryptorchidism, Hydrocep... |
ORPHA:3412 |
| Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Underdeveloped antitragus, Abnormality of the dentition, Abnormal anti... |
ORPHA:2036 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Dental crowding, Posteriorly rotated ears, Anteverted nares, Choanal at... |
OMIM:301044 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
| Marden-Walker Syndrome |
|
Posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Pyloric stenosis, Submucous clef... |
ORPHA:2461 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Carious teeth, Calvarial osteosclerosis, Delayed cranial suture closure, Persistence of primary t... |
ORPHA:93325 |
| Phocomelia, Schinzel Type |
|
Micrognathia, Cryptorchidism, High, narrow palate, Meningocele, Tracheoesophageal fistula, Cleft ... |
ORPHA:2879 |
| Witteveen-Kolk Syndrome |
|
Glue ear, Decreased response to growth hormone stimulation test, Uplifted earlobe, High, narrow p... |
OMIM:613406 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Anteverted nares, Depressed nasal bridge, Dolichocephaly, Cryptorchidism, Sensorineural hearing i... |
ORPHA:2719 |
| Cartilage-Hair Hypoplasia |
|
Low-set, posteriorly rotated ears, Aganglionic megacolon, Anteverted nares, Depressed nasal bridg... |
ORPHA:175 |
| Pallister-Hall Syndrome |
|
Gonadotropin deficiency, Depressed nasal ridge, Holoprosencephaly, Bifid uvula, Microretrognathia... |
ORPHA:672 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Sensorineural hearing impairment... |
ORPHA:3220 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus, Sensorineural hearing impairment |
ORPHA:99947 |
| Kabuki Syndrome |
|
Abnormal dental morphology, Lip pit, Abnormality of the dentition, Cryptorchidism, Hydrocephalus,... |
ORPHA:2322 |
| Hartsfield Syndrome |
|
Wide nose, Median cleft lip, Posteriorly rotated ears, Craniosynostosis, Cleft upper lip, Cleft p... |
OMIM:615465 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Intestinal obstruction, Erythema, Urticaria, Recurrent aphthous stomatitis, Acrocyanosis, Purpura |
ORPHA:343 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Corticospinal tract hypoplasia, Hydrocephalus, Agenesis of corpus callosum |
OMIM:307000 |
| Menke-Hennekam Syndrome 1 |
|
Short ear, Micrognathia, Deep philtrum, Depressed nasal ridge, Protruding ear, High palate, Short... |
OMIM:618332 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Cerebellar atrophy, Cryptorchidism, Respiratory distress, Death in childhood |
OMIM:615597 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Progeroid facial appearance, Narrow nasal ridge, Micrognathi... |
ORPHA:280365 |
| Faciocardiorenal Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Protruding ear, Plagiocephaly, Hypodo... |
ORPHA:1973 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Wide nose, Micrognathia, Underdeveloped nasal alae, Supernumerary tooth, Concave nasal ridge, Low... |
OMIM:619525 |
| Lathosterolosis |
|
Anteverted nares, Bilobate gallbladder, Micrognathia, Myelomeningocele, Gingival overgrowth, Wide... |
OMIM:607330 |
| Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the ear, Downturned corners... |
ORPHA:3455 |
| Fanconi Anemia, Complementation Group R |
|
Chiari type I malformation, Hydrocephalus, Anal atresia, Agenesis of permanent teeth |
OMIM:617244 |
| Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Depressed nasal bridge, Decreased response to growth hormone stimulati... |
ORPHA:79444 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Abnormality o... |
ORPHA:91350 |
| Cockayne Syndrome B |
|
Mandibular prognathia, Slender nose, Reduced subcutaneous adipose tissue, Abnormal pinna morpholo... |
OMIM:133540 |
| Kindler Syndrome |
|
Anal stenosis, Esophageal stenosis, Telangiectasia of the skin, Carious teeth, Fragile skin, Ging... |
OMIM:173650 |
| Fetal Akinesia Deformation Sequence 1 |
|
Posteriorly rotated ears, Micrognathia, Cryptorchidism, Hydrocephalus, High, narrow palate, Cleft... |
OMIM:208150 |
| Congenital Heart Block |
|
Pleural effusion, Cyanosis, Crackles |
ORPHA:60041 |
| Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Depressed nasal bridge, Decreased response to growth hormone stimulati... |
ORPHA:79443 |
| Congenital Sialidosis Type 2 |
|
Protruding tongue, Hydrocephalus, Gingival overgrowth, Telangiectasia, Low-set ears, Umbilical he... |
ORPHA:93400 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Broad nasal tip, Sens... |
ORPHA:466943 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Prominent scalp veins, Agenesis of pineal gland, Abnormality o... |
ORPHA:536471 |
| Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Depressed nasal bridge, Esophageal atresia, Tracheoesophageal fistula, Retrog... |
OMIM:301030 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Thin upper lip vermilion, Sensorineural hearing impairment, Brachycephaly, Aplasia/Hypoplasia of ... |
ORPHA:456312 |
| Weill-Marchesani Syndrome 2 |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Elbow flexion contracture, Narrow palate, High... |
OMIM:608328 |
| Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Vertigo, Cough |
ORPHA:99825 |
| Viss Syndrome |
|
Chronic gastritis, Prominent superficial blood vessels, Micrognathia, High, narrow palate, High p... |
OMIM:619472 |
| Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Enlarged pol... |
ORPHA:91348 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Hydrocephalus, Macroglossia, Pleural effusion |
OMIM:261740 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Downturned corners of mouth,... |
ORPHA:444077 |
| Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Hip dislocation, Genu valgum,... |
OMIM:182250 |
| Tetraamelia Syndrome 1 |
|
Choanal atresia, Micrognathia, Cleft upper lip, Hydrocephalus, Single naris, Cleft palate, Low-se... |
OMIM:273395 |
| Primary Hyperoxaluria |
|
Cutis marmorata, Abnormality of the dentition, Rootless teeth, Abnormal dental pulp morphology, A... |
ORPHA:416 |
| Cranioectodermal Dysplasia 3 |
|
Sagittal craniosynostosis, Micrognathia, Hypoplasia of teeth, Ectodermal dysplasia, Everted lower... |
OMIM:614099 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Cerebellar ve... |
OMIM:263520 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Protruding ear, Downturned corners of mouth, Short philtrum, Cerebella... |
ORPHA:500150 |
| Diamond-Blackfan Anemia 8 |
|
Short nose, Thick upper lip vermilion, Wide nasal bridge |
OMIM:612563 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Posteriorly rotated ears, Anteverted nares, Bulbous nose, Tracheoeso... |
ORPHA:1780 |
| Usher Syndrome |
|
Abnormal vestibular function, Abnormality of dental color, Abnormal dental enamel morphology, Car... |
ORPHA:886 |
| Jaberi-Elahi Syndrome |
|
Depressed nasal bridge, Short nose, Cerebellar vermis atrophy, Protruding ear, Low-set ears, Tria... |
OMIM:617988 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Tinnitus, Hydrocephalus |
ORPHA:73256 |
| 8Q24.3 Microdeletion Syndrome |
|
Microretrognathia, Branchial cyst, Thin upper lip vermilion, Congenital hip dislocation, Posterio... |
ORPHA:508488 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Thin vermilion border, Hypoplasia of the zygomatic bone, Brachycephaly, Long philtrum |
OMIM:614800 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Oligodonti... |
OMIM:180500 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:2182 |
| Roberts Syndrome |
|
Craniosynostosis, Micrognathia, Cleft upper lip, Cryptorchidism, External ear malformation, Under... |
ORPHA:3103 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Micrognathia, Biliary hyperplasia, Cryptorchidism, Pyloric stenosis, Underd... |
ORPHA:83617 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Dental crowding, Apnea, Delayed eruption of primary teeth, Aggressive behavior, Widely spaced tee... |
OMIM:617799 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Protruding ear, Ectodermal dy... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Protruding ear, Ectodermal dy... |
ORPHA:363958 |
| Mucopolysaccharidosis Type 2 |
|
Otosclerosis, Wide nose, Hyperactivity, Impulsivity, Aggressive behavior, Conductive hearing impa... |
ORPHA:580 |
| Aicardi-Goutieres Syndrome 1 |
|
Cerebellar calcifications, Erythema, Multiple gastric polyps, Increased CSF interferon alpha, Chr... |
OMIM:225750 |
| C Syndrome |
|
Low-set, posteriorly rotated ears, Death in infancy, Hypoplasia of the ear cartilage, Anteverted ... |
ORPHA:1308 |
| Dravet Syndrome |
|
Limited knee extension, Obsessive-compulsive trait, Cyanotic episode, Impulsivity |
ORPHA:33069 |
| Diamond-Blackfan Anemia |
|
Depressed nasal bridge, Cleft soft palate, Micrognathia, Cleft lip, Wide nasal bridge, Microtia, ... |
ORPHA:124 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Frontal bossing, Cloverleaf skull, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Mi... |
ORPHA:508533 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Death in infancy, Cyanosis, Apnea, Sensorineural hearing impairment, Respirat... |
OMIM:252010 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Frontal bossing, Short nose, Micrognathia |
OMIM:266810 |
| Tetanus |
|
Respiratory distress, Trismus, Tachypnea |
ORPHA:3299 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cerebellar atrophy, Death in infancy, Respiratory distress, Cyanosis, Apnea, Neonatal respiratory... |
OMIM:618426 |
| Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Otitis media, Aspiration pneumonia, Thickened helices, Conductive hearing impairment... |
ORPHA:581 |
| Bilateral Perisylvian Polymicrogyria |
|
Cerebellar dysplasia, Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Apnea, Choanal a... |
ORPHA:98889 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
| Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Hydrocephalus, Non-midline cleft lip, Anencephaly, Cleft palat... |
ORPHA:1335 |
| Yunis-Varon Syndrome |
|
Micrognathia, Abnormal occipital bone morphology, High, narrow palate, Broad secondary alveolar r... |
ORPHA:3472 |
| Craniorachischisis |
|
Omphalocele, Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia |
ORPHA:63260 |
| Meckel Syndrome, Type 6 |
|
Absent gallbladder, Occipital encephalocele, Cleft upper lip, Hydrocephalus, Anencephaly, Cleft p... |
OMIM:612284 |
| Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration, Hearing impairment |
OMIM:245200 |
| Nicolaides-Baraitser Syndrome |
|
Short lingual frenulum, High, narrow palate, Widely spaced teeth, Anteverted nares, Cryptorchidis... |
OMIM:601358 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Wide anterior fontanel |
OMIM:613673 |
| Faciocardiomelic Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Dental malocclusion, Wide mouth, Long phi... |
OMIM:612731 |
| Tetrasomy 9P |
|
Glue ear, Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short philtrum... |
ORPHA:3310 |
| Isolated Exencephaly |
|
Low-set ears, Depressed nasal bridge, Abnormal facial skeleton morphology, Hypoplasia of the fron... |
ORPHA:563612 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Cardiom... |
OMIM:618838 |
| Congenital Diaphragmatic Hernia |
|
Hypoxemia, Intestinal malrotation, Respiratory distress |
ORPHA:2140 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Micrognathia, Hydrocephalus, Cranial hyperostosis, Gingival overgrowth, Respiratory failure, Stil... |
OMIM:259720 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Delayed eruption of teeth, Arthropathy, Joint dislocation, Genu recurvatum, Camptodactyly of fing... |
OMIM:143095 |
| Pterygium Colli, Isolated |
|
Short nose, Protruding ear |
OMIM:177990 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough |
ORPHA:86812 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Conductive hearing impairment, Respiratory failure, Depressed nasal ... |
ORPHA:1861 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Intestinal malrotation, Cryptorchidism, Brachycephaly, Wide mouth, Posterior plagiocephaly, Micro... |
OMIM:617798 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Posteriorly rotated ears, Aganglionic megacolon, Prominent nasal bridge, Bulbous nose, Cupped ear... |
OMIM:613870 |
| Aspartylglucosaminuria |
|
Mandibular prognathia, Thickened calvaria, Malabsorption, Carious teeth, Abnormality of the denti... |
ORPHA:93 |
| Degcags Syndrome |
|
Micrognathia, Prominent nose, Premature graying of hair, High palate, Agenesis of corpus callosum... |
OMIM:619488 |
| Primrose Syndrome |
|
Hypoplasia of the maxilla, Knee flexion contracture, Downturned corners of mouth, High palate, Ti... |
OMIM:259050 |
| Oxoglutaric Aciduria |
|
Hydrocephalus, Abnormal salivary gland morphology |
ORPHA:31 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Arthropathy, Erythema, Large fontanelles, Arthritis, High palate, Wormian bones, Flushing |
OMIM:259100 |
| Laurin-Sandrow Syndrome |
|
Prominent nose, Underdeveloped nasal alae, Cryptorchidism, Hydrocephalus, Abnormality of the nose... |
ORPHA:2378 |
| Meckel Syndrome |
|
Encephalocele, Low-set, posteriorly rotated ears, Pancreatic fibrosis, Aplasia/Hypoplasia of the ... |
ORPHA:564 |
| Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Prematurely aged appearance, Progeroid facial appearance, Abnormality of the dentition, Large fon... |
ORPHA:90153 |
| Fanconi Anemia, Complementation Group B |
|
Death in infancy, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cerebellar hypopl... |
OMIM:300514 |
| 1P36 Deletion Syndrome |
|
Depressed nasal ridge, Brachycephaly, Conductive hearing impairment, Agenesis of corpus callosum,... |
ORPHA:1606 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Abnormal nasal bone morphology, Neoplasm of the anterior pituitary, Hyd... |
ORPHA:54595 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Wide nose, Recurrent pneumonia, Wide nasal bridge, Macroglossia, Thick verm... |
OMIM:617303 |
| Focal Dermal Hypoplasia |
|
Cleft ala nasi, Anteriorly placed anus, Oligodontia, Spina bifida occulta, Agenesis of corpus cal... |
OMIM:305600 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, High palate |
OMIM:271225 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Anteverted nares, Decreased response to growth hormone stimulation tes... |
ORPHA:293987 |
| Hemangioblastoma |
|
Vertigo, Cerebellar edema, Hydrocephalus, Cerebellar hemangioblastoma |
ORPHA:252054 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
| Hydrolethalus Syndrome 1 |
|
Median cleft lip, Abnormal pinna morphology, Micrognathia, Anencephaly, Cleft palate, Stillbirth,... |
OMIM:236680 |
| Dominant Beta-Thalassemia |
|
Depressed nasal bridge, Abnormality of the dentition, Malar prominence, Dyspnea, Jaundice, Genu v... |
ORPHA:231226 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Pulp calcification, Taurodontia, Enamel hypoplasia |
OMIM:211900 |
| Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Thin upper lip vermilion, Frontal bossing, Anteverted nares, Supernumerary nipple, Cryptorchidism... |
OMIM:616728 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Cryptorchidism, Hydrocephalus, Esophageal atresia, Tracheoesophageal fistula, Holoprosencephaly, ... |
ORPHA:77298 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Recurrent upper respiratory tract infections, Gingival overgrowth, Hea... |
ORPHA:508542 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Anal stenosis, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Hyd... |
OMIM:613686 |
| Muscle-Eye-Brain Disease |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
| Sifrim-Hitz-Weiss Syndrome |
|
Cupped ear, Flat acetabular roof, Anteriorly placed anus, Fused cervical vertebrae, Low-set ears,... |
OMIM:617159 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Carious teeth, Esophageal stricture, Microdontia, Pterygium, Oral leukoplakia |
OMIM:224230 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth, Lateral ventricle dilatation, Agenesis of corpus callosum, Thy... |
OMIM:300952 |
| Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Death in infancy, Low-set, posteriorly rotated ears, Anteverted nares, Sup... |
ORPHA:373 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Death in infancy, Cerebellar vermis hypoplasia, Anteverted nares, Spina bifida, Micrognathia, Pan... |
OMIM:274000 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Respiratory insufficiency due to muscle weakness, Hydrocephalus, Sensorineural hearing impairment... |
OMIM:615249 |
| Warburg Micro Syndrome 2 |
|
Prominent nasal bridge, Asymmetry of the ears, Cryptorchidism, Brachycephaly, Short nose, Macrotia |
OMIM:614225 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Respiratory distress, Neonatal respiratory distress, Sens... |
ORPHA:209905 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Plagiocephaly, Brachycephaly, Holoprosencephaly, Craniosynostosis |
ORPHA:2163 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
| Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Anteverted nares, Decreased CSF albumin concentration, Brachycephaly, Point... |
OMIM:615273 |
| Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae |
OMIM:602473 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Posteriorly rotated ears, Micrognathia, Prominent nose, Long nose, Bulbous nose, Submucous cleft ... |
ORPHA:2636 |
| Griscelli Syndrome |
|
Encephalocele, Pyloric stenosis, Hydrocephalus, Jaundice, Premature graying of hair |
ORPHA:381 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO |
ORPHA:747 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, High palate, Hearing impairment |
ORPHA:2720 |
| Ruvalcaba Syndrome |
|
Dental crowding, Cryptorchidism, Thin vermilion border, Narrow mouth, Short nose, Convex nasal ridge |
ORPHA:3121 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Hearing impairment |
OMIM:616733 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Depressed nasal bridge, Stillbirth, Low-set ears, Midface retrusion |
OMIM:151210 |
| Bardet-Biedl Syndrome 8 |
|
Brachycephaly |
OMIM:615985 |
| Roberts-Sc Phocomelia Syndrome |
|
Posteriorly rotated ears, Abnormal pinna morphology, Craniosynostosis, Micrognathia, Cleft upper ... |
OMIM:268300 |
| Multiple Sulfatase Deficiency |
|
Depressed nasal bridge, Anteverted nares, Hydrocephalus, Sensorineural hearing impairment, Smooth... |
ORPHA:585 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Frontal bossing, Thick vermilion border, Long philtrum, Neonatal death, Short nose, Ventriculomegaly |
OMIM:252160 |
| Humeroradial Synostosis |
|
Brachycephaly, Small earlobe, Microtia, Wide nasal bridge |
OMIM:236400 |
| Camurati-Engelmann Disease |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Carious teeth, Genu valgum, Hearing i... |
OMIM:131300 |
| Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Chiari type I malformatio... |
OMIM:270400 |
| Greenberg Dysplasia |
|
Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Stillbirt... |
OMIM:215140 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Goiter |
ORPHA:97285 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Short nose, Retrognathia, High palate, Wide nasal bridge |
OMIM:618005 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Frontal bossing, Exaggerated cupid's bow, Posteriorly rotated ears, Spina bifida, Broad nasal tip... |
OMIM:619480 |
| Khan-Khan-Katsanis Syndrome |
|
Frontal bossing, Tented upper lip vermilion, Cerebellar vermis hypoplasia, Micrognathia, Sensorin... |
OMIM:618460 |
| Chops Syndrome |
|
Anteverted nares, Tracheomalacia, Cryptorchidism, High, narrow palate, Downturned corners of mout... |
OMIM:616368 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Hydrocephalus, Stridor, Macroglossia, Thick vermilion border, Pulmonary art... |
ORPHA:505248 |
| Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Popliteal pterygium, Intercrura... |
OMIM:119500 |
| Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Anorexia, Carious teeth, Abnormal subcutaneous fat tissue distribution... |
ORPHA:1328 |
| Gracile Bone Dysplasia |
|
Death in infancy, Hydrocephalus, Ankyloglossia |
OMIM:602361 |
| Achondrogenesis, Type Ia |
|
Hypoplastic nasal bridge, Turricephaly, Anteverted nares, Depressed nasal bridge, Protruding tong... |
OMIM:200600 |
| Optic Pathway Glioma |
|
Vertigo, Hydrocephalus |
ORPHA:2086 |
| Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Supernumerary nipple, Uplifted earlobe, Cryptor... |
OMIM:235730 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Hydrocephalus, Jaundice, Low-set ears, Stomatitis, Pulm... |
ORPHA:79282 |
| Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Decreased response to growth hormone stimulation test, Dilatated internal audit... |
ORPHA:1435 |
| Stt3B-Cdg |
|
Cerebellar atrophy, Cryptorchidism, Respiratory distress |
ORPHA:370924 |
| Mucopolysaccharidosis, Type Vii |
|
Hydrocephalus, Sensorineural hearing impairment, Recurrent upper respiratory tract infections, Gi... |
OMIM:253220 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal pinna morphology, Micrognathia, Cleft upper lip, Cryptorchidism, Hydrocephalus, Malrotat... |
OMIM:194190 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Prematurely aged appearance, Progeroid facial appearance, Abnormality of the dentition, Micrognat... |
ORPHA:90154 |
| Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... |
ORPHA:2038 |
| Neu-Laxova Syndrome 1 |
|
Micrognathia, Swollen lip, Depressed nasal ridge, Neonatal death, Agenesis of corpus callosum, Da... |
OMIM:256520 |
| Kabuki Syndrome 1 |
|
Micrognathia, Protruding ear, High palate, Recurrent aspiration pneumonia, Cryptorchidism, Wide n... |
OMIM:147920 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Sensorineural hearing impairment, Submucous cleft hard palate, Spinal dysraphism, Incomplete part... |
OMIM:617660 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cerebellar atrophy, Respiratory distress, Pneumothorax, Increased CSF lactate, Decreased CSF copp... |
OMIM:620306 |
| Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Wormian bones, Stillbirth |
OMIM:259410 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Carious teeth, Dyspnea, Premature graying of hair, Interstitial pneumonitis, Premature loss of te... |
OMIM:127550 |
| Restrictive Dermopathy |
|
Natal tooth, Aplasia/Hypoplasia involving the nose, Camptodactyly of finger, Choanal atresia, Mic... |
ORPHA:1662 |
| L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon |
ORPHA:275543 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Wide nose, Abnormal dental morphology, Camptodactyly of finger, Sensorineural heari... |
ORPHA:217085 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Posterior helix pit, Agenesis of corpus call... |
OMIM:312870 |
| Beta-Thalassemia Major |
|
Depressed nasal bridge, Abnormality of the dentition, Malar prominence, Dyspnea, Jaundice, Genu v... |
ORPHA:231214 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Conical tooth, Erythema, Oligodontia, Hypodontia |
OMIM:308300 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Depressed nasal bridge, Cryptorchidism, Sensorineural hearing impairment, Wide mouth, High palate... |
OMIM:300661 |
| Classical Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Prematurely aged appearance, Phalangeal dislocation, ... |
ORPHA:287 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Short nose, Short nasal septum, Hearing impairment |
OMIM:302950 |
| Slc35A1-Cdg |
|
Hypoxemia, Pneumonia, Respiratory distress, Subcutaneous hemorrhage |
ORPHA:238459 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Mixed hearing impairment, Absence of Stensen duct, Delayed eruption of primary teeth, Carious tee... |
OMIM:149730 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Shwachman-Diamond Syndrome |
|
Delayed eruption of teeth, Sinusitis, Pneumonia, Carious teeth, Abnormal joint morphology, Oral u... |
ORPHA:811 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Wide nose,... |
OMIM:606170 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus, Anal atresia |
OMIM:312190 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Neonatal respiratory distress, Cerebellar vermis hypoplasia, High, narrow palate, Hydrocephalus, ... |
ORPHA:228308 |
| Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... |
ORPHA:199241 |
| Isolated Atp Synthase Deficiency |
|
Cerebellar atrophy, Sensorineural hearing impairment, Respiratory distress |
ORPHA:254913 |
| Japanese Encephalitis |
|
Respiratory distress, CSF pleocytosis, CSF lymphocytic pleiocytosis, Abnormal pons morphology, Fo... |
ORPHA:79139 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
| Hypoplasminogenemia |
|
Duodenal ulcer, Hydrocephalus, Gingival overgrowth, Gingivitis, Periodontitis, Abnormality of the... |
ORPHA:722 |
| H Syndrome |
|
Cleft upper lip, Malabsorption, Recurrent pharyngitis, Hydrocephalus, Gingival overgrowth, Bronch... |
ORPHA:168569 |
| Wiedemann-Steiner Syndrome |
|
Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Dolichocephaly, ... |
ORPHA:319182 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Wide nose, Abnormal dental morphology, Camptodactyly of finger, Sensorineural heari... |
ORPHA:217093 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Abnormal fear-induced behavior, Abnormal circulating porphyrin concen... |
ORPHA:100924 |
| Common Variable Immunodeficiency |
|
Pneumonia, Gastrointestinal stroma tumor, Brachycephaly, Bronchiectasis, Restrictive ventilatory ... |
ORPHA:1572 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Plagiocephaly, Brachycephaly, Low-set ears |
OMIM:619910 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Turricephaly, Pneumonia, Cryptorchidism, Acrocyanosis, Decreased testicular size |
ORPHA:1867 |
| Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Abnormal dental enamel morphology, Premature loss of primary teeth, Cari... |
ORPHA:2908 |
| Meningioma |
|
Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p... |
ORPHA:2495 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Uplifted earlobe, Mic... |
OMIM:616734 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Anteverted nares, Depressed nasal bridge, Splenopancreatic fusio... |
OMIM:269150 |
| Fanconi Anemia |
|
Micrognathia, High palate, Spina bifida, Aplasia/Hypoplasia of the uvula, Cryptorchidism, Umbilic... |
ORPHA:84 |
| Adams-Oliver Syndrome |
|
Encephalocele, Cutis marmorata, Hydrocephalus, Esophageal varix, Pulmonary arterial hypertension,... |
ORPHA:974 |
| Alexander Disease |
|
Frontal bossing, Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, High palate, Agen... |
ORPHA:58 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Wide nose, Depressed nasal bridge, Bulbous nose, Thick lower lip vermilion, Brachycephaly, Thick ... |
OMIM:610442 |
| Episodic Ataxia Type 1 |
|
Cerebellar atrophy, Vertigo, Respiratory distress |
ORPHA:37612 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anteverted nares, Olivopontocerebellar hypoplasia, Hydrocephalus, Plagiocephaly, Open mouth, Agen... |
ORPHA:457284 |
| Mowat-Wilson Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Uplifted earlobe, Cleft har... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Uplifted earlobe, Cleft har... |
ORPHA:261537 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased response to growth hormo... |
ORPHA:95494 |
| Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:60025 |
| Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal s... |
ORPHA:2363 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Frontal bossing, Hydrocephalus, Ventriculomegaly |
OMIM:603387 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Epistaxis, Carious teeth, Enterocolitis, Gout, Ulcerative colitis, Oral ulcer, Gingivitis, Inflam... |
ORPHA:79259 |
| Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Nasal congestion, Stridor, Paroxysmal dys... |
ORPHA:141083 |
| Menkes Disease |
|
Brachycephaly, Death in childhood |
OMIM:309400 |
| Non-24-Hour Sleep-Wake Syndrome |
|
Abnormal pineal melatonin secretion |
ORPHA:73267 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Brachycephaly, Supernumerary nipple |
ORPHA:1173 |
| Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Anteverted nares, Hydrocephalus, Increased CSF protein concentration, Ventric... |
OMIM:272200 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Frontal bossing, Tented upper lip vermilion, Depressed nasal bridge, Craniosynostosis, Abnormalit... |
ORPHA:457395 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Bifid uvula, Craniosynostosis, Micrognathia |
OMIM:601374 |
| Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Movement abnormality of the tongue, Open mouth |
ORPHA:98805 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Mandibular prognathia, Low-set, posteriorly rotated ears, Prominent ... |
ORPHA:457359 |
| Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Cyanosis |
ORPHA:439 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Micrognathia, Prominent nose, Partial agenesis of the corpus callos... |
OMIM:210710 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis |
OMIM:261680 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Neonatal death, Anal atresia |
OMIM:314390 |
| Fibrous Dysplasia Of Bone |
|
Abnormal zygomatic bone morphology, Abnormal facial skeleton morphology, Abnormal mandible morpho... |
ORPHA:249 |
| Noonan Syndrome With Multiple Lentigines |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Wide nasal b... |
ORPHA:500 |
| Limb Body Wall Complex |
|
Encephalocele, Depressed nasal bridge, Choanal atresia, Spina bifida, Cleft lip, Hydrocephalus, M... |
ORPHA:2369 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Protruding ear, High palate, Short philtrum, Otitis media, Anteverted nares,... |
OMIM:619475 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cyanosis, Aqueductal stenosis, Posteriorly placed anus, Hydrocephalus, Myel... |
OMIM:306955 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hypoplasia of the pyramidal tract, Hydrocephalus, Respiratory insufficiency, Holop... |
OMIM:253800 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Uplifted earlobe, Cleft har... |
ORPHA:261552 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Abnormal stomach morphology, Neonatal asphyxia, Dyspnea, Wheezing... |
ORPHA:141127 |
| Hunter-Macdonald Syndrome |
|
Thin upper lip vermilion, Sensorineural hearing impairment, Premature osteoarthritis, Large fonta... |
OMIM:611962 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
| Lhermitte-Duclos Disease |
|
Macroglossia, Hydrocephalus, Enlarged cerebellum, Ovarian neoplasm |
ORPHA:65285 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Poor wound healing, Hydrocephalus, Sensorineural hearing impair... |
ORPHA:2072 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Abnormal pinna morphology, Depressed nasal bridge, Micrognathia, Cryptorchi... |
ORPHA:3404 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion, Ventriculomegaly, CSF lymphocytic pleiocytosis |
ORPHA:292 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Generalized abnormality of skin, Esophageal varix, Respiratory insufficiency |
ORPHA:367 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis, Tachypnea |
ORPHA:860 |
| Opsismodysplasia |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Respiratory ... |
OMIM:258480 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
High-frequency sensorineural hearing impairment, Mixed hearing impairment, Cleft soft palate, Con... |
OMIM:614557 |
| Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... |
OMIM:615512 |
| Floating-Harbor Syndrome |
|
Thin upper lip vermilion, Prominent metopic ridge, Posteriorly rotated ears, Prominent nasal brid... |
OMIM:136140 |
| Microphthalmia, Syndromic 5 |
|
Cryptorchidism, Ectopic posterior pituitary, Cleft palate |
OMIM:610125 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus |
OMIM:601794 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Cerebellar atrophy, Thin upper lip vermilion, Pancreatic fibrosis, Sensorineural hearing impairme... |
OMIM:616263 |
| Ethylene Glycol Poisoning |
|
Cyanosis, Gastritis, Tachypnea, Episodic respiratory distress, Addictive alcohol use, Abnormal pa... |
ORPHA:31826 |
| Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... |
ORPHA:1329 |
| Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly, Cleft palate, Cleft upper lip |
OMIM:313850 |
| Menkes Disease |
|
Tarsal synostosis, Malabsorption, Micrognathia, Abnormal palate morphology, Spontaneous hematomas... |
ORPHA:565 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Wormian bones, Abnormality of the knee, Abnormality of the ankle |
ORPHA:970 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
| Diamond-Blackfan Anemia 1 |
|
Micrognathia, Cleft upper lip, Spina bifida occulta, Depressed nasal ridge, Cleft palate, High pa... |
OMIM:105650 |
| Loeys-Dietz Syndrome 1 |
|
Eosinophilic infiltration of the esophagus, Micrognathia, Craniosynostosis, Hydrocephalus, Cleft ... |
OMIM:609192 |
| Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
| Craniofacial Microsomia 1 |
|
Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Conductive hearing imp... |
OMIM:164210 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus |
OMIM:613330 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Delayed cranial suture closure, Anteriorly placed anus, High palate, Low-set ears, Hyposmia, Over... |
OMIM:618653 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Cleft palate, Anteriorly placed anus, Colpocephaly, Colonic atresia, Agenesis of c... |
OMIM:309801 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Death in infancy |
OMIM:600559 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress |
ORPHA:79312 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Wide nose, Long nose |
ORPHA:2184 |
| Basal Cell Nevus Syndrome 2 |
|
Vertigo, Frontal bossing, Hydrocephalus |
OMIM:620343 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Apnea, Malabsorption, Elbow dislocation, Abnormality of the dentition, Osteoar... |
ORPHA:285 |
| Neuroocular Syndrome |
|
Genu recurvatum, Unilateral deafness, Short uvula, Submucous cleft hard palate, Cupped ear, Anter... |
OMIM:619539 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Frontal bossing, Thick vermilion border, Long philtrum, Short nose, Ventriculomegaly |
OMIM:252150 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Respiratory failure, Ventriculomegaly, Cerebellar cyst |
OMIM:616538 |
| Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth, Xerostomia |
OMIM:180920 |
| Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:611936 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
| Oculoectodermal Syndrome |
|
Giant cell granuloma of mandible, Depressed nasal bridge, Supernumerary nipple, Wide nasal bridge... |
OMIM:600268 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Hydrocephalus, Asthma, Prolonged neonatal jaundice, H... |
OMIM:619377 |
| Arachnoiditis |
|
Hydrocephalus, Tinnitus, Hearing impairment |
ORPHA:137817 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
ORPHA:927 |
| Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation, Agenesis of corp... |
OMIM:613001 |
| Opsismodysplasia |
|
Frontal bossing, Flat occiput, Depressed nasal bridge, Respiratory insufficiency, Short nose |
ORPHA:2746 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Brachycephaly, Dolichocephaly |
ORPHA:2633 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress |
OMIM:212140 |
| Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Pulmonary embolism, Hearing abnormality, Hydrocephalus, Gingival ove... |
ORPHA:3205 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Micrognathia, Hydrocephalus, Everted lower lip vermilion, Cerebellar hypoplasia, Malar flattening... |
OMIM:253280 |
| Methylcobalamin Deficiency Type Cble |
|
Hydrocephalus, Ventriculomegaly, Hearing impairment |
ORPHA:2169 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Meconium ileus, Respiratory insufficiency, Knee flexion contracture |
OMIM:617239 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Submucous cleft hard palate, Ankle clonus, Compulsive behaviors, Attention deficit hyperactivity ... |
OMIM:618891 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
| Coccidioidomycosis |
|
Respiratory distress, Pneumonia, CSF pleocytosis, Hydrocephalus, Broad skull, CSF lymphocytic ple... |
ORPHA:228123 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
| Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
| Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Anteverted nares, In... |
ORPHA:2729 |
| Ablepharon-Macrostomia Syndrome |
|
Microtia, third degree, Abnormal nasal morphology, Microtia, first degree, Short upper lip, Anter... |
OMIM:200110 |
| Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Celiac disease, Vertigo, Jaundice, Esophageal varix, B... |
OMIM:301068 |
| Dend Syndrome |
|
Anteverted nares, Downturned corners of mouth, Long philtrum, Thickened ears, Short nose |
ORPHA:79134 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Central apnea, Thin upper lip vermilion, Prominent nasal tip, Short nose, Brachyturricephaly, Smo... |
ORPHA:522077 |
| Criss-Cross Heart |
|
Cyanosis |
ORPHA:1461 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor, Increased CSF lactate |
OMIM:615595 |
| Myotonic Dystrophy 1 |
|
Respiratory distress, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
| Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Abnormal occipital bone morphology, Abnormal cer... |
ORPHA:2356 |
| Osteogenesis Imperfecta, Type Ii |
|
Wormian bones, Large fontanelles, Convex nasal ridge, Respiratory insufficiency |
OMIM:166210 |
| Knobloch Syndrome |
|
Occipital encephalocele, Depressed nasal bridge, Pyloric stenosis, Hydrocephalus, Calvarial skull... |
ORPHA:1571 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Large posterior fontanelle, Depressed nasal bridge, Macroglossia, Attention deficit hyperactivity... |
ORPHA:90674 |
| Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Cough, Pleural effusion, Abnormality of ... |
ORPHA:1546 |
| Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Brachycephaly, Duodenal stenosis, Macroglossia, Microti... |
OMIM:190685 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... |
ORPHA:99106 |
| Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Respiratory failure, Increa... |
ORPHA:206436 |
| Aspartylglucosaminuria |
|
Anteverted nares, Depressed nasal bridge, Thick lower lip vermilion, Hypoplastic frontal sinuses,... |
OMIM:208400 |
| Myasthenia Gravis |
|
Dyspnea, Rheumatoid arthritis, Dysphagia, Acrocyanosis, Hearing impairment |
ORPHA:589 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Craniosynostosis, Micrognathia, Parietal foramina, Cryptorchidism, Cupped ear, Overfolded helix, ... |
OMIM:609945 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Erosion of oral mucosa, Abnormal oral mucosa morphology, Pneumonia, Dyspnea... |
ORPHA:79404 |
| Mirage Syndrome |
|
Cryptorchidism, Hydrocephalus, Esophageal stricture, Aspiration pneumonia, Decreased testicular s... |
OMIM:617053 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Posteriorly rotated ears, Sensorineural hearing impairment, Aspiration, Age... |
OMIM:618733 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
| Whipple Disease |
|
Cough, Hydrocephalus, Respiratory insufficiency, Malabsorption |
ORPHA:3452 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Pneumonia, Tachypnea, Ecchymosis |
ORPHA:36234 |
| Double Outlet Left Ventricle |
|
Cyanosis, Orofacial cleft |
ORPHA:3427 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
| Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... |
ORPHA:2905 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Neonatal respiratory distress, Abnormal pineal melatonin secretion, Jaundice |
ORPHA:69665 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Chronic gastritis, Thin upper lip vermilion, Prominent palatine ridges, Mi... |
OMIM:150230 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Elbow dislocation, Large fontanelles, Delayed cranial suture closure |
ORPHA:2249 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Hip dislocation, Protruding ear, Low-set ears, Wormian bones, Premature skin wrinkling, Delayed c... |
OMIM:616603 |
| Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Abnormality of the dentition, Trismus, Asthma, Smooth tongue, Ectopi... |
ORPHA:3206 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Frontal bossing, Wide nose, Cloverleaf skull, Depressed nasal bridge, Choanal atresia, Craniosyno... |
OMIM:201750 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Abnormal pinna morphology, Pancreatic fibrosis, Craniosynostosis, Oxycephaly, ... |
OMIM:200995 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:79242 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Nodular goiter, Brachycephaly, Polycystic ovaries |
ORPHA:371428 |
| 1P21.3 Microdeletion Syndrome |
|
Broad nasal tip, Micrognathia, Wide mouth, Long ear, Short nose |
ORPHA:293948 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased sensitivity to hypoxemia, Hypogeusia, Acrocyanosis, Neuropathic arthropathy |
OMIM:223900 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
| Cartilage-Hair Hypoplasia |
|
Anal stenosis, Aganglionic megacolon, Malabsorption, Esophageal atresia, Brachycephaly |
OMIM:250250 |
| Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation, Myelopathy, Sensorineural hearing impairment, Hear... |
ORPHA:79241 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Calcification of the auricular cartilage, Bilateral cryptorchidism, Hydrocephalus, Plagiocephaly,... |
ORPHA:3042 |
| Hec Syndrome |
|
Communicating hydrocephalus, Vaginal hydrocele, Respiratory insufficiency |
ORPHA:2119 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Volvulus... |
ORPHA:210122 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Pituitary adenoma, Parathyroid hyperplasia, Noncommunicating hydrocephalus,... |
ORPHA:805 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Neonatal Lupus Erythematosus |
|
Hydrocephalus, Cutaneous photosensitivity |
ORPHA:398124 |
| Omodysplasia 1 |
|
Frontal bossing, Depressed nasal bridge, Micrognathia, Cryptorchidism, Wide nasal bridge, Long ph... |
OMIM:258315 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Wormian bones |
ORPHA:2788 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Posteriorly rotated ears, Anteverted nares, Broad nasal tip, Carious teeth, Cryptorchidism, Long ... |
OMIM:619522 |
| Williams Syndrome |
|
Micrognathia, Rectal prolapse, Protruding ear, Microdontia, Chronic otitis media, Spina bifida oc... |
ORPHA:904 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Hydrocephalu... |
OMIM:615287 |
| Dural Sinus Malformation |
|
Pulsatile tinnitus, Myelopathy, Hydrocephalus, Abnormal cerebellum morphology, Ear pain |
ORPHA:97339 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Partial agenesis of the corpus callosum, Cyanosis, Low-set ears |
OMIM:617478 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... |
ORPHA:365 |
| Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Exaggerated cupid's bow, Downturned corners of mouth, Aspiration, Fl... |
ORPHA:2131 |
| Pmm2-Cdg |
|
Mandibular prognathia, Respiratory distress, Cerebellar vermis hypoplasia, Prominent nose, High p... |
ORPHA:79318 |
| Bruck Syndrome |
|
Wormian bones, Pterygium, Respiratory insufficiency |
ORPHA:2771 |
| Dextrocardia |
|
Intestinal malrotation, Hydrocephalus, Pancreatic hypoplasia, Meckel diverticulum, Aplasia/Hypopl... |
ORPHA:1666 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Micrognathia, Hydrocephalus, Protruding ear, Abnormality of the sphenoid sinus, High p... |
ORPHA:363700 |
| Aicardi-Goutières Syndrome |
|
Cutis marmorata, Increased CSF interferon alpha, Chronic CSF lymphocytosis, Plagiocephaly, Low-se... |
ORPHA:51 |
| Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Abnormal sweat gland morphology |
ORPHA:247257 |
| Cockayne Syndrome |
|
High-frequency sensorineural hearing impairment, Reduced subcutaneous adipose tissue, Abnormal de... |
ORPHA:191 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Apnea, Sensorineural hearing impairment, Orofacial cleft, Increased CSF lac... |
ORPHA:17 |
| Curry-Jones Syndrome |
|
Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip pit, Unicoronal synosto... |
OMIM:601707 |
| Medulloblastoma |
|
Cerebellar calcifications, Vertigo, Hydrocephalus, Adenomatous colonic polyposis, Bilateral senso... |
ORPHA:616 |
| Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Abnormal pinna morphology, Micrognathia, Underdeveloped nasal alae, Cry... |
OMIM:134780 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... |
OMIM:610655 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... |
ORPHA:99104 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Apnea, Ventriculomegaly |
ORPHA:395 |
| Sotos Syndrome |
|
Hip contracture, Aganglionic megacolon, Ankle flexion contracture, Craniosynostosis, Abnormality ... |
ORPHA:821 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Neonatal respiratory distress, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus ca... |
ORPHA:157 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Tympanosclerosis |
OMIM:240300 |
| Fanconi Anemia, Complementation Group D2 |
|
Cryptorchidism, Hydrocephalus, Esophageal atresia, Tracheoesophageal fistula, Low-set ears, Annul... |
OMIM:227646 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Stomatitis, Respiratory distress |
OMIM:612852 |
| Loeys-Dietz Syndrome 2 |
|
Spontaneous pneumothorax, Eosinophilic infiltration of the esophagus, Micrognathia, Craniosynosto... |
OMIM:610168 |
| Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pseudobulbar paralysis, Infantile sensorineural hearing impairment |
ORPHA:268943 |
| Occipital Horn Syndrome |
|
Hiatus hernia, High, narrow palate, Jaundice, Large fontanelles, Hip dislocation, Bruising suscep... |
ORPHA:198 |
| Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Rectal atresia, Perineal fistula, Rectovaginal fistula, Anal atresia |
ORPHA:3016 |
| Geleophysic Dysplasia 2 |
|
Thin upper lip vermilion, Respiratory insufficiency, Long philtrum, Pulmonary arterial hypertensi... |
OMIM:614185 |
| Williams-Beuren Syndrome |
|
Rectal prolapse, Premature graying of hair, Chiari type I malformation, Microdontia, Anteverted n... |
OMIM:194050 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Prematurely aged appearance, Hydrocephalus, Urticaria, Cutaneous photosensitivity, Hearing impair... |
ORPHA:220295 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Nonproductive cough, Rhinitis, Ecchymosis, Purpura |
ORPHA:319213 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Intestinal malrotation |
OMIM:616749 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Cutis marmorata, Malabsorption, Pulmonary embolism, Dyspnea, Angioedema, As... |
ORPHA:3260 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Low-set ears, Hydrocephalus, Macrotia, Smooth philtrum |
OMIM:277400 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Gastritis, Pneumonia, Malabsorption, Ileus, Urticaria, Interstitial pneumon... |
ORPHA:37042 |
| Cleft Lip And Alveolus |
|
Lip pit, Abnormal pattern of respiration, Abnormal nasal morphology, Hypodontia, Abnormal nasal s... |
ORPHA:141291 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Ecchymosis, Short nose, Bruising susceptibility, Epistaxis |
OMIM:277450 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Jaundice, Decreased thalamic volume, Hypoglycorrhachia, Macrotia |
ORPHA:168577 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress |
OMIM:251000 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Cryptorchidism, Pulmonary arterial hypertension, Supernumerary nipple |
ORPHA:2519 |
| Farber Disease |
|
Respiratory distress, Recurrent upper respiratory tract infections, Respiratory insufficiency |
ORPHA:333 |
| Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Brachycephaly |
ORPHA:2988 |
| Toxic Epidermal Necrolysis |
|
Respiratory distress, Malabsorption, Intestinal perforation, Erythema, Tracheoesophageal fistula,... |
ORPHA:537 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
| Absence Of The Pulmonary Artery |
|
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... |
ORPHA:980 |
| Bruck Syndrome 2 |
|
Wormian bones, Pterygium, Elbow flexion contracture, Knee flexion contracture |
OMIM:609220 |
| Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Prominent nose, Erythema, Respiratory acidos... |
OMIM:614748 |
| Listeriosis |
|
Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure, Hypoglycorrhachia, I... |
ORPHA:533 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
| Toriello-Lacassie-Droste Syndrome |
|
Aganglionic megacolon, Anteverted nares, Abnormality of the ear, Short nose, Agenesis of corpus c... |
ORPHA:3339 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Abnormality of the knee, Stapes ankylosis, Mixed hearing impairment, Calcif... |
ORPHA:51608 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Death in infancy, Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation, Death in chil... |
OMIM:612301 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Micrognathia, Protruding ear, High palate, Short philtrum, Aspiration... |
OMIM:216340 |
| Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
| Pituitary Stalk Interruption Syndrome |
|
Cryptorchidism, Ectopic posterior pituitary, Death in infancy |
ORPHA:95496 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chiari malformation, Occipi... |
ORPHA:268810 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Anterior pitu... |
ORPHA:67045 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Wormian bones |
OMIM:619638 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Frontal bossing, Anteverted nares, Anterior pituitary hypoplasia, Depressed nasal bridge, Aqueduc... |
OMIM:619534 |
| Cocaine Intoxication |
|
Respiratory distress, Intestinal perforation, Wheezing, Tachypnea, Pneumothorax, Colitis, Cough, ... |
ORPHA:90068 |
| Cardiospondylocarpofacial Syndrome |
|
Posteriorly rotated ears, Tarsal synostosis, Anteverted nares, Conductive hearing impairment, Con... |
OMIM:157800 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Decreased adipose tissue around neck, Cutis marmorata, Lack ... |
OMIM:606721 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:274150 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract, Rectal abscess |
OMIM:600145 |
| Mietens Syndrome |
|
Wide nose, Wide nasal bridge, Short nose |
ORPHA:2557 |
| Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, Hydrocephalus, Telangiectasia, Chylothorax, Vascular skin abnormality |
ORPHA:137667 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Geleophysic Dysplasia 1 |
|
Anteverted nares, Wide mouth, Long philtrum, Thickened helices, Short nose, Smooth philtrum |
OMIM:231050 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ventriculomegaly, Vertigo, Subependymal nodules |
ORPHA:25 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hip dislocation, Joint subluxation, Wormian bones, Bruising susceptibility, Fragile skin |
OMIM:617821 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Flat acetabular roof, Delayed ossification of carpal bones, Limited el... |
OMIM:300106 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Epistaxis, Pneumonia, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... |
ORPHA:340 |
| Gaucher Disease |
|
Death in infancy, Hydrocephalus, Respiratory insufficiency, Gingival bleeding, Pulmonary arterial... |
ORPHA:355 |
| Lymphangioleiomyomatosis |
|
Dyspnea, Hydrocephalus, Pneumothorax, Restrictive ventilatory defect, Chylothorax, Cough, Emphysema |
ORPHA:538 |
| Q Fever |
|
Respiratory distress, Pneumonia, Cough, Pleural effusion, Purpura |
ORPHA:781 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress, Steatorrhea |
OMIM:260400 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P... |
ORPHA:95455 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea |
OMIM:115197 |
| Witkop Syndrome |
|
Microdontia of primary teeth, Agenesis of permanent teeth |
OMIM:189500 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Recurrent pneumonia, Retrognathia, Abnormal pons morphology, Thin vermilion... |
ORPHA:99646 |
| Dermatomyositis |
|
Telangiectasia of the skin, Gastrointestinal stroma tumor, Erythema, Respiratory insufficiency, A... |
ORPHA:221 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased response to growth hormo... |
ORPHA:90695 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Dyspnea, Sensorineural hearing impairment, Episodic respiratory distress, Increased CSF la... |
ORPHA:255210 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:256810 |
| Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
| Townes-Brocks Syndrome 1 |
|
Overfolding of the superior helices, Anal stenosis, Rectoperineal fistula, Choanal atresia, Crypt... |
OMIM:107480 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, Jaundice |
OMIM:617156 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Intestinal malrotation, Aplasia/Hypoplasia of the gallbladder, Umbilical he... |
ORPHA:2255 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
| Autosomal Dominant Cutis Laxa |
|
Genu recurvatum, Prematurely aged appearance, Emphysema, Hip dislocation, Bronchiectasis, Protrud... |
ORPHA:90348 |
| Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Vertigo, Wheezing, Hypox... |
ORPHA:97214 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Posterior pituitary hypoplasia |
OMIM:613986 |
| Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax |
OMIM:617300 |
| Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... |
ORPHA:31204 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Anal stenosis, Anterior pituitary hypoplasia, Pyloric stenosis, Axil... |
OMIM:181450 |
| Full Nf2-Related Schwannomatosis |
|
Bilateral vestibular schwannoma, Myelopathy, Hydrocephalus, Sensorineural hearing impairment, Abn... |
ORPHA:637 |
| Oeis Complex |
|
Intestinal malrotation, Cryptorchidism, Hydrocephalus, Myelomeningocele, Anteriorly placed anus, ... |
OMIM:258040 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Anterior pituitary agenesis |
OMIM:620303 |
| Familial Dysautonomia |
|
Acrocyanosis |
ORPHA:1764 |
| Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Arthritis, Vasculitis in the skin, Acrocy... |
ORPHA:48435 |
| Goodpasture Syndrome |
|
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... |
OMIM:233450 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea |
ORPHA:99050 |
| Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Pheochromocytoma, Parathyroid adenoma |
OMIM:162200 |
| Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
| Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
| Osteogenesis Imperfecta, Type Xxi |
|
Wormian bones |
OMIM:619131 |
| Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea, Petechiae, Purpura |
ORPHA:2330 |
| Plague |
|
Respiratory distress, Chapped lip, Enterocolitis, Acute infectious pneumonia, Inflammation of the... |
ORPHA:707 |
| Acromesomelic Dysplasia 1 |
|
Frontal bossing, Short nose |
OMIM:602875 |
| Alström Syndrome |
|
Respiratory distress, Abnormality of dental color, Decreased response to growth hormone stimulati... |
ORPHA:64 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Sensorineural hearing impairment |
OMIM:616084 |
| Scimitar Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough |
ORPHA:185 |
| Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
| Gitelman Syndrome |
|
Neoplasm of the pancreas, Respiratory distress, Vertigo, Parathyroid adenoma, Tinnitus |
ORPHA:358 |
| Truncus Arteriosus |
|
Tachypnea, Cyanosis, Hypoplasia of the thymus |
ORPHA:3384 |
| Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
| Peroxisome Biogenesis Disorder 4B |
|
Sensorineural hearing impairment, Short nose |
OMIM:614863 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... |
ORPHA:99125 |
| Split Cord Malformation |
|
Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Meningocele, Chiari... |
ORPHA:573278 |
| Neurofibromatosis Type 1 |
|
Cryptorchidism, Hydrocephalus, Hearing abnormality, Pheochromocytoma, Hearing impairment |
ORPHA:636 |
| Penile Agenesis |
|
Posteriorly rotated ears, Depressed nasal bridge, Rectal fistula, Cryptorchidism, Tracheoesophage... |
ORPHA:49 |
| Neutral Lipid Storage Myopathy |
|
Sensorineural hearing impairment, Pineal cyst |
ORPHA:98908 |
| Exstrophy-Epispadias Complex |
|
Anal stenosis, Spina bifida, Cryptorchidism, Hydrocephalus, Anal atresia |
ORPHA:322 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis |
ORPHA:216694 |
| Leptospirosis |
|
Respiratory distress, Pleural effusion, Jaundice, Cough |
ORPHA:509 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebellar atrophy, Hydrocephalus |
OMIM:175780 |
