Anencephaly 2 |
|
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Bifid nose, Median c... |
OMIM:619452 |
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Cleft ala nasi, Underdeveloped nasal alae, Non-midline cleft lip, Wide nasal bridge, Convex nasal... |
ORPHA:2007 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect, Bilateral cleft lip and palate |
OMIM:600776 |
Holoprosencephaly 7 |
|
Synophrys, Hypoplastic nasal septum, Shallow orbits, Iris coloboma, Median cleft palate, Bilatera... |
OMIM:610828 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Microphthalmia |
OMIM:611638 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Thin upper lip vermilion, Epicanthus, Anteverted nares, Micrognathia, Cleft palate, Short nose |
ORPHA:2015 |
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Thin upper lip vermilion, Broad nasal tip, Narrow jaw, Wide nasal bridge, Thin eyebrow, Long phil... |
OMIM:618147 |
Spondyloepiphyseal Dysplasia Tarda With Characteristic Facies |
|
Broad nasal tip, Thick lower lip vermilion, Wide nasal bridge, Short philtrum, Thick upper lip ve... |
OMIM:600093 |
Frontonasal Dysplasia 1 |
|
Epicanthus, Median cleft lip, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Hypopl... |
OMIM:136760 |
17Q21.31 Microduplication Syndrome |
|
Epicanthus, Anteverted nares, Micrognathia, Abnormality of the dentition, Synophrys, High palate,... |
ORPHA:217340 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Choanal atresia, Spina bifida, Abnormal nasal morphology, Non-midline cleft lip, Cl... |
ORPHA:1104 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Depressed nasal ridge, Cle... |
OMIM:613885 |
14Q11.2 Microdeletion Syndrome |
|
Epicanthus, Exaggerated cupid's bow, Depressed nasal bridge, Highly arched eyebrow, Micrognathia,... |
ORPHA:261120 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Cleft lower lip, Fusion of gums |
ORPHA:401942 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Intestinal malrotation, Broad nasal tip, Wide nasal bridge, Cleft palate, Microphth... |
OMIM:615524 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
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 |
Diprosopus |
|
Non-midline cleft lip, Anencephaly, Cleft palate, Abnormality of the nose |
ORPHA:1681 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... |
OMIM:137550 |
Hiatt-Neu-Cooper Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Epicanthus, Exaggerated cupid's bow, Anteverted nares, Wide nasal bridg... |
OMIM:619311 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Micrognathia, Everted lower lip vermilion, High palate, Blepharophimosis,... |
ORPHA:1695 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Cleft upper li... |
OMIM:147250 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Cleft ala nasi, Orbital encephalocele, Cleft palate, Microphthalmia |
OMIM:164180 |
Holoprosencephaly 9 |
|
Anophthalmia, Depressed nasal bridge, Hypoplasia of the premaxilla, Optic nerve hypoplasia, Cleft... |
OMIM:610829 |
Frontofacionasal Dysplasia |
|
Encephalocele, Telecanthus, Depressed nasal bridge, Choanal atresia, Blepharophimosis, Bifid nasa... |
ORPHA:1791 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Intestinal malrotation, Hypoplasia of the premaxilla, Micrognathia, Cleft palate, ... |
ORPHA:2166 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Craniofacial-Deafness-Hand Syndrome |
|
Telecanthus, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, S... |
OMIM:122880 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Depressed nasal bridge, Hypoplasia of t... |
OMIM:167730 |
Oculomaxillofacial Dysostosis |
|
Median cleft lip, Abnormal eyelid morphology, Micrognathia, Abnormality of the dentition, Abnorma... |
ORPHA:1794 |
Zechi-Ceide Syndrome |
|
Wide nose, Cleft upper lip, Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Narrow pa... |
OMIM:612916 |
Proboscis Lateralis |
|
Anophthalmia, Abnormal morphology of bony orbit of skull, Single naris, Orofacial cleft, Abnormal... |
ORPHA:141099 |
X-Linked Intellectual Disability, Siderius Type |
|
Cleft upper lip, Orofacial cleft, Broad nasal tip |
ORPHA:85287 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:600251 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Epicanthus, Prominence of the premaxilla, Anteverted nares, Patent ductus arteriosus, Depressed n... |
ORPHA:2412 |
Pai Syndrome |
|
Encephalocele, Telecanthus, Median cleft lip, Depressed nasal bridge, Nasal polyposis, Cleft pala... |
ORPHA:1993 |
Intellectual Developmental Disorder, Autosomal Recessive 45 |
|
Anteverted nares, Highly arched eyebrow, Synophrys, Bulbous nose, Wide nasal bridge, Upslanted pa... |
OMIM:615979 |
Frontofacionasal Dysplasia |
|
Telecanthus, Malar flattening, Cleft upper lip, Blepharophimosis, Underdeveloped nasal alae, Orof... |
OMIM:229400 |
Intellectual Disability, Wolff Type |
|
Microretrognathia, Non-midline cleft lip, Thick lower lip vermilion, Bulbous nose, Wide nasal bri... |
ORPHA:3080 |
Holoprosencephaly 3 |
|
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... |
OMIM:142945 |
Microphthalmia With Limb Anomalies |
|
Abnormal eyebrow morphology, Death in infancy, Macrodontia, Hypoplasia of the premaxilla, Depress... |
ORPHA:1106 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Epicanthus, Anteverted nares, Highly arched eyebrow, Cleft upper lip, P... |
OMIM:243310 |
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Synophrys, Downslanted palpebral fissures, Wide nasal bridge, Micrognathia |
ORPHA:3207 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Prominent nasal tip, Epicanthus, Thick eyebrow, Anteverted nares, Depressed nasal bridge, Highly ... |
OMIM:615834 |
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy |
|
Synophrys, Retrognathia, Wide nasal bridge |
OMIM:619844 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Wid... |
OMIM:619736 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Epicanthus, Abnormality of the philtrum, Hypoplasia of the premaxilla, Abn... |
ORPHA:2673 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Microphthalmia, Submucous cleft hard palate, Single naris, Anosmia, Cleft palate, A... |
ORPHA:2250 |
Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly, Microcephaly |
ORPHA:293 |
Trigonocephaly 2 |
|
Depressed nasal bridge, Downslanted palpebral fissures, Wide nasal bridge |
OMIM:614485 |
Holoprosencephaly 4 |
|
Median cleft lip, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip, Sem... |
OMIM:142946 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Hartsfield Syndrome |
|
Encephalocele, Depressed nasal bridge, Non-midline cleft lip, Cleft palate, Lobar holoprosencepha... |
ORPHA:2117 |
Gómez-López-Hernández Syndrome |
|
Turricephaly, Telecanthus, Cerebellar vermis hypoplasia, Hydrocephalus, Brachycephaly, Midface re... |
ORPHA:1532 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Depressed nasal bridge, Hypoplasia of the zygomatic bone, Macrocephaly, Malar flattening, Short nose |
ORPHA:2835 |
Intellectual Developmental Disorder, X-Linked 91 |
|
High palate, Epicanthus, Macrodontia, Short nose |
OMIM:300577 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Optic disc hypoplasia, Depressed nasal bridge, Wide nasal bridge, Death in childhood, Downslanted... |
OMIM:609528 |
Mosaic Trisomy 14 |
|
Anteverted nares, Prominent nasal bridge, Micrognathia, Wide nasal bridge, Cleft palate, Wide mou... |
ORPHA:1703 |
Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Micrognathia, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth... |
ORPHA:1832 |
Phenobarbital Embryopathy |
|
Mandibular prognathia, Epicanthus, Abnormal nasal base norphology, Unilateral cleft lip, Malar fl... |
ORPHA:1919 |
Alazami Syndrome |
|
Wide nose, Depressed nasal bridge, Wide nasal bridge, Wide mouth, Narrow palpebral fissure, Thick... |
OMIM:615071 |
Intellectual Disability-Short Stature-Hypertelorism Syndrome |
|
Frontal bossing, Wide nose, Hypoplasia of the zygomatic bone, Anteverted nares |
ORPHA:3074 |
Hydrolethalus |
|
Anophthalmia, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate, Gingival cle... |
ORPHA:2189 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Synophrys, Wide mouth, Everted lower lip vermili... |
ORPHA:2429 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft upper lip, Cleft palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:120433 |
Temtamy Syndrome |
|
Telecanthus, Convex nasal ridge, Micrognathia, Thick lower lip vermilion, Chorioretinal coloboma,... |
ORPHA:1777 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dandy-Walker malformation, Flat occiput, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the ... |
OMIM:618736 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Choanal atresia, Prominent nasal bridge, Cleft upper lip, Micrognathia, Un... |
OMIM:608572 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Bilateral ptosis, Brachycephaly, Inappropriate laughter, Hypoplasia of the corpus callosum, Recur... |
OMIM:618859 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Lacrima... |
ORPHA:1529 |
X-Linked Intellectual Disability, Abidi Type |
|
Non-midline cleft lip, Prominent nasal bridge, Cleft palate |
ORPHA:85273 |
Charlie M Syndrome |
|
Micrognathia, Non-midline cleft lip, Wide nasal bridge, Tooth agenesis, Thin vermilion border, Sh... |
ORPHA:1406 |
Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Epicanthus, Exaggerated cupid's bow, Anteverted nares, Depressed nasal ... |
OMIM:617752 |
Kahrizi Syndrome |
|
Bulbous nose, Wide nasal bridge, Thick vermilion border, Iris coloboma |
OMIM:612713 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Epicanthus, Frontal bossing, Anencephaly, Narrow palpebral fissure, Cere... |
OMIM:614175 |
Fetal Akinesia Deformation Sequence 2 |
|
Tented upper lip vermilion, Micrognathia, Wide nasal bridge, Cleft palate, High palate, Downslant... |
OMIM:618388 |
Rhiny |
|
Short nose, Thin vermilion border, Anteverted nares |
OMIM:180360 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Abnormal spaced incisors, Anteverted nares, Prominent nasal bridge, Broad nasal tip... |
ORPHA:411986 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Median cleft lip, Nasal polyposis, Bifid uvula, High palate, Downslanted palpebral fissures, Iris... |
OMIM:155145 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Non-midline cleft lip, Meningocele, Depressed nasal ridge, Absent nasal septal cartilage, Bilater... |
ORPHA:2003 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Telecanthus, Tented upper lip vermilion, Aganglionic megacolon, White eyel... |
ORPHA:894 |
Blepharonasofacial Malformation Syndrome |
|
Epicanthus, Telecanthus, Wide nose, Underdeveloped nasal alae, Abnormal eyelash morphology, Non-m... |
ORPHA:1252 |
Parietal Foramina 1 |
|
Encephalocele, Cleft palate, Cleft upper lip |
OMIM:168500 |
Orofacial Cleft 14 |
|
Median cleft lip |
OMIM:615892 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Thin upper lip vermilion, Depressed nasal bridge, Highly arched eyebrow, Long philtrum, Short nos... |
ORPHA:438178 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus |
ORPHA:2476 |
Velo-Facial-Skeletal Syndrome |
|
Epicanthus, Telecanthus, Abnormality of the dentition, High, narrow palate, Wide nasal bridge |
ORPHA:3424 |
Facial Paresis, Hereditary Congenital, 3 |
|
Unilateral ptosis, Epicanthus, Tented upper lip vermilion, Anteverted nares, Depressed nasal brid... |
OMIM:614744 |
Ring Chromosome 1 Syndrome |
|
Telecanthus, Anteverted nares, Wide nasal bridge, Downturned corners of mouth, Long philtrum, Dow... |
ORPHA:1437 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Open bite, Hypoplasia of the maxilla, Depressed na... |
ORPHA:1248 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Choanal atresia, Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilateral micropht... |
OMIM:607597 |
Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Abnormal palate morphology, Short nose, Short palpebra... |
ORPHA:1200 |
Fetal Valproate Spectrum Disorder |
|
Epicanthus, Narrow mouth, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion bord... |
ORPHA:1906 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Epicanthus, Anteverted nares, Cleft upper lip, Abnormality of the dent... |
ORPHA:915 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Intestinal malrotation, Micrognathia, Underdeveloped nasal alae, Deep philtrum, Depressed nasal r... |
ORPHA:77300 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Epicanthus, Prominent nasal bridge, Micrognathia, Broad nasal tip, Upsl... |
OMIM:613544 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, Hydranencephaly, Da... |
OMIM:617967 |
Zimmermann-Laband Syndrome 3 |
|
Broad nasal tip, Synophrys, Thick lower lip vermilion, Patent ductus arteriosus, Gingival overgro... |
OMIM:618658 |
Adenylosuccinate Lyase Deficiency |
|
Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum |
ORPHA:46 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Dental crowding, Anteverted nares, Depressed nasal bridge, Micrognathia... |
OMIM:615761 |
Lamb-Shaffer Syndrome |
|
Epicanthus, Dental crowding, Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Open mouth,... |
OMIM:616803 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Microphthalmia |
OMIM:611561 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Anteverted nares, Narrow nasal ridge, Bulbous nose, Hypoplasia of the brainste... |
OMIM:236500 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Encephalocele, Micrognathia, Microcephaly, Hydrocephalus, Meningocele, Ane... |
ORPHA:1908 |
Distal 17P13.1 Microdeletion Syndrome |
|
Flat occiput, Prominent nasal bridge, Unilateral polymicrogyria, Microcephaly, Hypoplasia of the ... |
ORPHA:319171 |
Craniosynostosis 6 |
|
Turricephaly, Dandy-Walker malformation, Craniosynostosis, Microcephaly, Parietal foramina, Brach... |
OMIM:616602 |
Ring Chromosome 8 Syndrome |
|
Epicanthus, Short nose, Anteverted nares, Abnormal palate morphology |
ORPHA:1450 |
Otodental Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Agenesis of premo... |
ORPHA:2791 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Epicanthus, Telecanthus, Anteverted nares, Micrognathia, Non-midline cl... |
ORPHA:1915 |
Mmep Syndrome |
|
Microphthalmia, Median cleft lip, Orofacial cleft |
ORPHA:3434 |
Frontal Encephalocele |
|
Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor... |
ORPHA:1931 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Epicanthus, Micrognathia, Underdeveloped nasal alae, Patent ductus arteriosus, Wide nasal bridge,... |
ORPHA:1516 |
Growth Delay Due To Insulin-Like Growth Factor I Resistance |
|
Broad nasal tip, Wide nasal bridge, Thin vermilion border, Everted lower lip vermilion, Smooth ph... |
ORPHA:73273 |
Orofaciodigital Syndrome Xi |
|
Bulbous nose, Downslanted palpebral fissures, Wide nasal bridge, Cleft palate |
OMIM:612913 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Micrognathia, Patent ductus arteriosus, W... |
ORPHA:2863 |
Pierpont Syndrome |
|
Smooth philtrum, Telecanthus, Wide nose, Broad nasal tip, Short nose, Unilateral narrow palpebral... |
OMIM:602342 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce... |
OMIM:601349 |
Fetal Akinesia Deformation Sequence 4 |
|
Micrognathia, Wide nasal bridge, High palate, Prenatal death, Neonatal death, Retrognathia |
OMIM:618393 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Epicanthus, Exaggerated cupid's bow, Anteverted nares, Wide mouth, Delayed eruption of permanent ... |
OMIM:618506 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose |
ORPHA:1355 |
Disorganization, Mouse, Homolog Of |
|
Cleft palate, Cleft upper lip |
OMIM:223200 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Epicanthus, Dental crowding, Anteverted nares, Highly arched eyebrow, Persistence of primary teet... |
OMIM:618342 |
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities |
|
Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Wide nasal bridge, Wide mouth, Narro... |
OMIM:619595 |
Cofs Syndrome |
|
Death in infancy, Micrognathia, Abnormal nasal morphology, Wide nasal bridge, Everted lower lip v... |
ORPHA:1466 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Mandibular prognathia, Wide nasal bridge, Narrow palate, Prominent nose |
OMIM:617169 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Broad nasal tip, Malar flattening, Open mouth, Retrognathia, Downslanted palpebral fissures, Shor... |
OMIM:613670 |
Potocki-Shaffer Syndrome |
|
Epicanthus, Telecanthus, Underdeveloped nasal alae, Wide nasal bridge, Downturned corners of mout... |
OMIM:601224 |
Chung-Jansen Syndrome |
|
Epicanthus, Anteverted nares, Micrognathia, Synophrys, Upslanted palpebral fissure, Thin vermilio... |
OMIM:617991 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Telecanthus, Anteverted nares, Abnormal soft... |
ORPHA:884 |
Blepharocheilodontic Syndrome 1 |
|
Choanal atresia, Cleft upper lip, Conical tooth, Lagophthalmos, Ectropion of lower eyelids, Neura... |
OMIM:119580 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Type II lissencephaly |
OMIM:615041 |
Monosomy 5P |
|
Microretrognathia, Epicanthus, Wide nasal bridge, High palate, Downslanted palpebral fissures |
ORPHA:281 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Epicanthus, Anteverted nares, Micrognathia, Bulbous nose, Pierre-Robin ... |
OMIM:613604 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Bifid nasal tip, Retrognathia, High palate, Wide nasal bridge |
OMIM:300983 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, High palate, Widely spaced teeth, Solitary median maxillary central incisor, Long p... |
ORPHA:66625 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Diffuse cerebral atrophy, Flat occiput, Microcephaly, Brachycephaly, Plagiocephaly |
ORPHA:2898 |
3Q13 Microdeletion Syndrome |
|
Epicanthus, Anteverted nares, Wide nasal bridge, Long philtrum |
ORPHA:1621 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Upslanted palpebral fissure, Epicanthus, Brachycephaly, Microcephaly |
ORPHA:2528 |
Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Epicanthus, Micrognathia, Underdeveloped nasal alae, Wide nasal bridge, Upslanted palpebral fissu... |
OMIM:248910 |
Ohdo Syndrome |
|
Ptosis, Epicanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Sparse eyebrow, Wide ... |
OMIM:249620 |
Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Epicanthus, A... |
ORPHA:420561 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Death in infancy, Median cleft lip, Depressed nasal bridge, Micrognathia... |
OMIM:241800 |
Non-Distal Duplication 13Q |
|
Abnormality of the dentition, Micrognathia, Abnormal eyelash morphology, Synophrys, Thin vermilio... |
ORPHA:1702 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Epicanthus, Alobar holoprosencephaly, Brachycephaly, Plagiocephaly, Agenesis of corpus callosum, ... |
OMIM:615433 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Micrognathia, Synophrys, Downturned corners of mouth, High palate, Anteverted nares, Depressed na... |
OMIM:613792 |
Joubert Syndrome 10 |
|
Epicanthus, Deep philtrum, Wide nasal bridge, Thick vermilion border, Downslanted palpebral fissures |
OMIM:300804 |
Gand Syndrome |
|
Thin upper lip vermilion, Broad nasal tip, Wide nasal bridge, Wide mouth, Narrow palpebral fissur... |
OMIM:615074 |
Toluene Embryopathy |
|
Microcephaly, Micrognathia, Hypoplasia of the zygomatic bone, Biparietal narrowing, Short nose |
ORPHA:1920 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, High palate, Long philtrum, Short nose, Distichiasis |
ORPHA:2598 |
20P12.3 Microdeletion Syndrome |
|
Epicanthus, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Narrow mouth, M... |
ORPHA:261295 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Selective tooth agenesis, Cleft upper lip, Conical tooth, Hypoplasia of the max... |
OMIM:106260 |
Orofaciodigital Syndrome Viii |
|
Telecanthus, Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate, High palate |
OMIM:300484 |
Verheij Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Anteverted nares, Optic nerve hypoplasia, Broad nasal t... |
OMIM:615583 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Secondary microcephaly, Brachycephaly, Aggressive behavior |
OMIM:309530 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Synophrys, Upslanted palpebra... |
OMIM:300143 |
Holzgreve Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:236110 |
Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Cerebral calcification, Abnormal dental enamel morphology, Microcephaly, Hyp... |
ORPHA:1798 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Tooth ankylosis, Coloboma, Pul... |
OMIM:166750 |
Baraitser-Winter Syndrome 2 |
|
Thin upper lip vermilion, Telecanthus, Highly arched eyebrow, Orofacial cleft, Wide mouth, Colobo... |
OMIM:614583 |
Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Short columella, Dental malocclusion, Short nose |
OMIM:155050 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis, Microcephaly |
OMIM:302000 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia, Coloboma, Orbital cyst |
OMIM:251505 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus, Wide nasal bridge |
OMIM:209970 |
Cleft Lip-Retinopathy Syndrome |
|
Non-midline cleft lip |
ORPHA:1995 |
Perlman Syndrome |
|
Epicanthus, Anteverted nares, Micrognathia, High, narrow palate, Short nose, Wide nasal bridge, A... |
ORPHA:2849 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Cleft upper lip, Synophrys, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Smoot... |
OMIM:613192 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Frontal bossing, Turricephaly, Microcephaly, Megalencep... |
OMIM:613603 |
Nager Syndrome |
|
Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla, Abnormal nasal morphology, Non-m... |
ORPHA:245 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Unilateral ptosis, Epicanthus, Anteverted nares, Prominent nasal bridge, H... |
ORPHA:1449 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Cerebral calcification, Micrognathia, Carious teeth, Supernumerary tooth, Hypoplasia of the zygom... |
ORPHA:3145 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Blepharophimosis, Microcephaly, Aplasia/Hypoplasia of the c... |
ORPHA:2570 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Epicanthus, Cleft lip, Deep philtrum, Bulbous nose, Wide nasal bridge, Cleft p... |
OMIM:618571 |
Rafiq Syndrome |
|
Thin upper lip vermilion, Broad eyebrow, Wide nose, Underdeveloped nasolabial fold, Highly arched... |
OMIM:614202 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Epicanthus, Anteverted nares, Depressed nasal bridge, Deep philtrum, Wide nasal bridge, Wide mout... |
ORPHA:1825 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose, Long philtrum |
OMIM:125700 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Synophrys, Wide nasal bridge, Narrow palpebral fissure, Broad eyebrow |
OMIM:618302 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Thin upper lip vermilion, Thick eyebrow, Hypoplasia of the maxilla, Synophrys, Bulbous nose, Upsl... |
OMIM:618737 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Epicanthus, Acrania, Absent septum pellucidum, Dysplastic corpus callosum, Upslanted palpebral fi... |
OMIM:618820 |
Distal Deletion 10P |
|
Micrognathia, Non-midline cleft lip, Wide nasal bridge, Cleft palate, Ectopic anus, Downslanted p... |
ORPHA:1580 |
Keppen-Lubinsky Syndrome |
|
Narrow nasal bridge, Tented upper lip vermilion, Micrognathia, Underdeveloped nasal alae, Abnorma... |
OMIM:614098 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Epicanthus, Telecanthus, Optic nerve hypoplasia, Highly arched eyebrow, Synophrys, Brachycephaly,... |
OMIM:618828 |
Branchio-Oculo-Facial Syndrome |
|
Ptosis, Broad nasal tip, Deep philtrum, Non-midline cleft lip, Nasolacrimal duct obstruction, Oro... |
ORPHA:1297 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Prominent nasal bridge, Highly arched eyebrow, Cleft upper lip, Wid... |
OMIM:265050 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Wide nasal bridge, Downturned... |
OMIM:618729 |
Fg Syndrome 4 |
|
Wide nasal bridge |
OMIM:300422 |
Cebalid Syndrome |
|
Turricephaly, Highly arched eyebrow, Polyphagia, Brachycephaly, Platystencephaly, Plagiocephaly, ... |
OMIM:618774 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:614402 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Craniofacial osteoscler... |
OMIM:122860 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Epicanthus, Sparse eyelashes, Bilateral clef... |
OMIM:616788 |
Braddock-Carey Syndrome 2 |
|
Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Retrognathia, Down... |
OMIM:619981 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Sparse eyelashes, Depressed nasal bridge, Wide nasal bridge, Oligodontia, Thick vermilion border,... |
OMIM:617392 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Depresse... |
OMIM:618622 |
Hydrolethalus Syndrome 2 |
|
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Micrognathia |
OMIM:614120 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Micrognathia, Bulbous nose, Wide nasal bridge, Cleft palate, Narrow mouth, Mala... |
ORPHA:93946 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Depressed nasal bridge, Cleft upper lip, Abnormal eyelash morphology, Deep philtrum... |
OMIM:206920 |
Bartsocas-Papas Syndrome |
|
Median cleft lip, Micrognathia, Underdeveloped nasal alae, Ankyloblepharon, Cleft palate, Sparse ... |
ORPHA:1234 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... |
OMIM:239300 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Turricephaly, Cloverleaf skull, Anteverted nares, Depressed nasal bridge, Choanal atresia, Cranio... |
ORPHA:1555 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Patent ductus arteriosus, O... |
ORPHA:1790 |
Marshall Syndrome |
|
Frontal bossing, Cerebral calcification, Anteverted nares, Depressed nasal bridge, Micrognathia, ... |
ORPHA:560 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Self-injurious behavior, Frontal cortical atrophy, Brachycephaly, Aggressive behavior |
OMIM:300699 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Malar flattening, Maxillozygomatic hypoplasia |
ORPHA:2972 |
Keppen-Lubinsky Syndrome |
|
Narrow nasal bridge, Tented upper lip vermilion, Micrognathia, Underdeveloped nasal alae, Abnorma... |
ORPHA:435628 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Thin upper lip vermilion, Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdevelo... |
ORPHA:521308 |
Trisomy 12P |
|
Epicanthus, Thick eyebrow, Micrognathia, Wide nasal bridge, Cleft palate, Downturned corners of m... |
ORPHA:1699 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Wide nose, Hypoplasia of the maxilla, Sparse eyebrow, Abnormal e... |
ORPHA:2399 |
Microhydranencephaly |
|
Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Ag... |
OMIM:605013 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Epicanthus, Dental crowding, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Rectal pr... |
OMIM:617157 |
Orofaciodigital Syndrome Ix |
|
Telecanthus, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Broad nasal... |
OMIM:258865 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida, Microcephaly |
ORPHA:63862 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Epicanthus, Thick eyebrow, Exaggerated cupid's bow, Depressed nasal bridge, Sparse eyebrow, Cleft... |
OMIM:620098 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Eyelid coloboma, High palate, Iris colobom... |
ORPHA:861 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Microcephaly, Brachycephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Thin corpus ... |
OMIM:620200 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Highly arched eyebrow, Microg... |
ORPHA:404440 |
Craniodigital-Intellectual Disability Syndrome |
|
Spina bifida occulta, Long eyelashes, Brachycephaly, Thick eyebrow |
ORPHA:1514 |
Pierpont Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Telecanthus, Wide nasal ridge, Narrow palpebral fissur... |
ORPHA:487825 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Mandibular prognathia, Synophrys, Thick lower lip vermilion, Anosmia, Wide nasal bridge, Blepharo... |
OMIM:210745 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Prominent nasal bridge, Microcephaly, Carious teeth, Hypoplasia of the zyg... |
ORPHA:1110 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Wide nose, Cleft lip, Wide nasal bridge, Cleft palate, Downturned corners ... |
ORPHA:217017 |
Peho-Like Syndrome |
|
Epicanthus, Open mouth, Retrognathia, Short nose |
OMIM:617507 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Encephalocele, Absent eyebrow, Absent eyelashes, Short nose, Convex nasal ridge |
OMIM:200130 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Prominent nasal tip, Epicanthus, Anteverted nares, Highly arched eyebrow, Micrognathia, Bilateral... |
ORPHA:352490 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Sinusitis, Depressed nasal bri... |
ORPHA:1452 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Frontal bossing, Depressed nasal bridge, Abnormal dental enamel morphology, Hydrocephalus, Hypopl... |
ORPHA:1812 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Brachycephaly, Craniosynostosis |
OMIM:614416 |
Acromicric Dysplasia |
|
Abnormal eyebrow morphology, Anteverted nares, Narrow mouth, Bulbous nose, Thick lower lip vermil... |
ORPHA:969 |
6Q25 Microdeletion Syndrome |
|
Epicanthus, Micrognathia, Wide nasal bridge, Cleft palate, Upslanted palpebral fissure, High pala... |
ORPHA:251056 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of... |
OMIM:616367 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Anteverted nares, Cleft upper lip, Bulbous nose, Wide nasal bridge, Cleft palate, Bifid uvula |
OMIM:300958 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
2Q24 Microdeletion Syndrome |
|
Cleft palate, Coloboma, Abnormal oral frenulum morphology, Short philtrum, Microphthalmia, Downsl... |
ORPHA:1617 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion |
OMIM:612247 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Thick eyebrow, Anteverted nares, Micrognathia, Synophrys, Wide nasal bridge, Wide mouth, Oligodon... |
OMIM:602562 |
Intellectual Developmental Disorder, Autosomal Dominant 61 |
|
Thin upper lip vermilion, Prominent nasal bridge, Synophrys, Wide nasal bridge, Wide mouth, Narro... |
OMIM:618009 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha... |
OMIM:611134 |
Fg Syndrome 5 |
|
Epicanthus, Anteverted nares, Depressed nasal bridge, Diastema, Upslanted palpebral fissure, Long... |
OMIM:300581 |
Catel-Manzke Syndrome |
|
Cleft upper lip, Micrognathia, Pierre-Robin sequence, Nasolacrimal duct obstruction, Cleft palate... |
OMIM:616145 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
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 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Micrognathia, Synophrys, Downturned corners of mouth, Thin ver... |
ORPHA:1895 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Long eyelashes, Hypoplasia o... |
OMIM:618577 |
Chromosome 3Q29 Duplication Syndrome |
|
Abnormally large globe, Bulbous nose, Wide nasal bridge, Blepharophimosis, Short nose, Downslante... |
OMIM:611936 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Synophrys, Oligodontia, Prominence of the zygomatic bone, Exaggerated... |
ORPHA:364577 |
Frontonasal Dysplasia 3 |
|
Absent eyebrow, Sparse eyelashes, Underdeveloped nasal alae, Upper eyelid coloboma, Cleft palate,... |
OMIM:613456 |
Trisomy 8Q |
|
Micrognathia, Non-midline cleft lip, Myelomeningocele, Wide nasal bridge, Cleft palate, Orofacial... |
ORPHA:1752 |
Axenfeld-Rieger Syndrome |
|
Anal stenosis, Telecanthus, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge,... |
ORPHA:782 |
8Q12 Microduplication Syndrome |
|
Epicanthus, Telecanthus, Highly arched eyebrow, Narrow mouth, Wide nasal bridge, Everted lower li... |
ORPHA:228399 |
Trigonocephaly 1 |
|
Epicanthus, High, narrow palate, Synophrys, Wide nasal bridge, Upslanted palpebral fissure, Long ... |
OMIM:190440 |
14Q11.2 Microduplication Syndrome |
|
Epicanthus, Depressed nasal bridge, Exaggerated cupid's bow, Highly arched eyebrow, Micrognathia,... |
ORPHA:261229 |
Cerebrooculonasal Syndrome |
|
U-Shaped upper lip vermilion, Encephalocele, Anophthalmia, Anteverted nares, Prominent nasal brid... |
OMIM:605627 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Thick vermilion border, Wide nasal bridge, Thin eyebrow |
OMIM:619690 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Micrognathia, Synophrys, Wide nasal bridge, Abnormal palate morphology, Thick eyebrow |
ORPHA:1278 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Death in infancy, Micrognathia, Narrow mouth, Short nose, Abnormal palate morphology |
ORPHA:1495 |
Frank-Ter Haar Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Depressed nasal bridge, Gingival overgrowth, Wi... |
ORPHA:137834 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Keipert Syndrome |
|
Epicanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Prominen... |
ORPHA:2662 |
Warburg Micro Syndrome 1 |
|
Anteverted nares, Micrognathia, Wide nasal bridge, Thin vermilion border, Narrow mouth, Microphth... |
OMIM:600118 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Epicanthus, Telecanthus, Anteverted nares, Depressed nasal bridge, Spina b... |
ORPHA:1327 |
Simosa Craniofacial Syndrome |
|
Telecanthus, Highly arched eyebrow, Underdeveloped nasal alae, Sparse eyebrow, High, narrow palat... |
OMIM:182150 |
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 |
17P13.3 Microduplication Syndrome |
|
Wide nose, High palate, Narrow mouth, Short nose, Downslanted palpebral fissures |
ORPHA:217385 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Tented upper lip vermilion, Wide nasal bridge, Macroglossia, High palate, Umbilical hernia |
OMIM:616025 |
Antley-Bixler Syndrome |
|
Frontal bossing, Turricephaly, Anteverted nares, Choanal atresia, Craniosynostosis, Brachycephaly... |
ORPHA:83 |
Trisomy 18P |
|
Telecanthus, Highly arched eyebrow, Micrognathia, Underdeveloped nasal alae, High, narrow palate,... |
ORPHA:1715 |
Momo Syndrome |
|
Delayed eruption of teeth, Epicanthus, Thick lower lip vermilion, Dental malocclusion, Wide nasal... |
OMIM:157980 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Preauricular pit, Microcephaly, Carious teeth, Hypoplasia of the zygomatic bon... |
ORPHA:1786 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Highly arched eyebrow, Abnormality of the dent... |
ORPHA:2712 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Epicanthus, Tented upper lip vermilion, Palpebral edema, Depressed nasal b... |
ORPHA:261144 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Epicanthus, Anteverted nares, Carious teeth, Deep philtrum, Thick lower lip vermilion, Aplasia/Hy... |
ORPHA:2701 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Epicanthus, Microcephaly, Synophrys, Brachycephaly, Multifocal cerebral white matter abnormalitie... |
ORPHA:352530 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Preauricular pit, Microcephaly, Underdeveloped nasal alae |
OMIM:601355 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Absent lacrimal punctum, Telecanthus, Anteverted nares, Highly arched eyebrow,... |
ORPHA:228396 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Highly arched eyebrow, Cleft upper... |
ORPHA:3253 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Mandibular prognathia, Epicanthus, Telecanthus, Wide nasal bridge, Hypoplasia of the zygomatic bo... |
ORPHA:1778 |
Fanconi Anemia, Complementation Group S |
|
Epicanthus, Macrodontia, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Den... |
OMIM:617883 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Cyclopia, Remnants of the hyaloid vascular system, Aplasia of the prem... |
OMIM:157170 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Brachycephaly, Midface retrusion |
ORPHA:35099 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Telecanthus, Tented upper lip vermilion, Anteverted nares, Underdeveloped nasal alae, Wide nasal ... |
OMIM:616158 |
Congenital Disorder Of Glycosylation, Type 2V |
|
Thin upper lip vermilion, Epicanthus, Underdeveloped nasal alae, Bulbous nose, Low hanging colume... |
OMIM:619493 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Wide nose, Wide nasal bridge, Long philtrum, Open mouth, Downslanted palpebral fissures, Ptosis |
OMIM:615032 |
Distal Duplication 18Q |
|
Abnormal dental morphology, Anteverted nares, Choanal atresia, Micrognathia, Carious teeth, Promi... |
ORPHA:1716 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Wide nose, Anteverted nares, Micrognathia, Upslanted palpebral fissure, Widely spaced teeth, Long... |
OMIM:619694 |
8Q22.1 Microdeletion Syndrome |
|
Telecanthus, Sparse eyelashes, Highly arched eyebrow, Abnormality of the dentition, Hypoplasia of... |
ORPHA:178303 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Tented upper lip vermilion, Anteverted nares, Micrognathia, Synophrys, Bulbous nose, Wide nasal b... |
OMIM:619320 |
Thomas Syndrome |
|
Cleft palate, Cleft upper lip |
ORPHA:3316 |
X-Linked Mandibulofacial Dysostosis |
|
Prominent nasal bridge, Microcephaly, Micrognathia, Branchial anomaly, Hypoplasia of the zygomati... |
ORPHA:1131 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Optic nerve hypoplasia, Highly arched eyebrow, Micrognathia, Hypoplasia of... |
OMIM:620157 |
German Syndrome |
|
Abnormal eyebrow morphology, Depressed nasal bridge, Micrognathia, Synophrys, Wide nasal bridge, ... |
ORPHA:2077 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Synophrys, Short philtrum, Widely spaced teeth, Microdontia, Exaggerated cupid's bow, Anteverted ... |
OMIM:619293 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, C... |
OMIM:612530 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Long eyebrows, Cleft upper lip, Wide nasal bridge, Cleft palate, Wide mout... |
OMIM:201180 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, Coloboma, High palate, Short philtrum, Promin... |
OMIM:200990 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly,... |
OMIM:225790 |
Baker-Gordon Syndrome |
|
Thin upper lip vermilion, Epicanthus, Prominent nasal tip, Short nose, Smooth philtrum |
OMIM:618218 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Choanal atresia, Cleft palate, Abnormality of the sense of... |
ORPHA:1135 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Epicanthus, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Bulbous nose, H... |
OMIM:614105 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Upslanted palpebral fissure, ... |
OMIM:300558 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Highly arched eyebrow, Broad nasal tip, Thick lower lip vermilion, Wide nasal bridge, Prominent n... |
OMIM:619451 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Patent ductus arteriosus, Thin vermilion ... |
ORPHA:171839 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Depressed nasal bridge, Wide nasal bridge |
ORPHA:1513 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Anterior encephalocele, Holoprosenc... |
OMIM:601357 |
Orofaciodigital Syndrome Xviii |
|
Prominent nasal bridge, Accessory oral frenulum, Diastema, Cleft lip, Wide nasal bridge, Upslante... |
OMIM:617927 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Delayed eruption of teeth, Choanal atresia, Trigonocephaly, Micrognathia, Microcep... |
OMIM:619148 |
Cleft Palate-Lateral Synechia Syndrome |
|
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Blepharophimosis, Oral syn... |
ORPHA:2016 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Choanal atresia, Cleft upper lip, Anosmia, Cleft palate, Tooth agenesis, Hyposmia, Iris coloboma |
OMIM:147950 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Micrognathia, Wide nasal bridge, Thin vermilion border, Long philtrum, Mic... |
ORPHA:1438 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Telecanthus, Thick eyebrow, Prominent nasal bridge, Prominent nose, Underdeveloped nasal alae, Sy... |
OMIM:611091 |
Acrofacial Dysostosis, Palagonia Type |
|
Sparse eyelashes, Micrognathia, Abnormal eyelid morphology, High, narrow palate, Supernumerary to... |
ORPHA:1787 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Thin upper lip vermilion, Epicanthus, Telecanthus, Almond-shaped palpebral fissure, Bulbous nose,... |
OMIM:620292 |
Cornelia De Lange Syndrome 2 |
|
Cutis marmorata, Highly arched eyebrow, Microcephaly, Synophrys, Brachycephaly, Long eyelashes, D... |
OMIM:300590 |
Pontocerebellar Hypoplasia Type 10 |
|
Highly arched eyebrow, Underdeveloped nasal alae, Wide nasal bridge, Long eyelashes, Long palpebr... |
ORPHA:411493 |
Joubert Syndrome 14 |
|
Encephalocele, Epicanthus, Tented upper lip vermilion, Prominent nasal bridge, Highly arched eyeb... |
OMIM:614424 |
Orofaciodigital Syndrome Xix |
|
Epicanthus, Thick nasal alae, Cleft soft palate, Accessory oral frenulum, Underdeveloped nasal al... |
OMIM:620107 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Epicanthus, Exaggerated cupid's bow, Prominent nasal bridge, Micrognathia, Narrow mouth, Low hang... |
OMIM:618659 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Thin upper lip vermilion, Death in infancy, Micrognathia, High palate, Short nose |
OMIM:615042 |
Lissencephaly, X-Linked, 2 |
|
Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Wide anterior fontanel, Wide nasa... |
OMIM:300215 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Turricephaly, Hypoplasia of the zygomatic bone, Wide nasal bridge |
ORPHA:710 |
Ritscher-Schinzel Syndrome 3 |
|
Thin upper lip vermilion, Death in infancy, Anteverted nares, Highly arched eyebrow, Micrognathia... |
OMIM:619135 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Epicanthus, Telecanthus, Dental crowding, Sparse eyelashes, Narrow nos... |
OMIM:257850 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Wide nose, Micrognathia, Underdeveloped nasal alae, Cleft lip, Bifid nasal tip, Up... |
ORPHA:398156 |
Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Dental crowding, Anteverted nares, Narrow nasal ridge, Prominent na... |
OMIM:620370 |
Chromosome 16Q22 Deletion Syndrome |
|
Epicanthus, Depressed nasal bridge, Highly arched eyebrow, Micrognathia, Wide anterior fontanel, ... |
OMIM:614541 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Prominent nasal bridge, Wide nasal bridge, Everted lower lip vermilion, Short philtrum, Long phil... |
OMIM:619556 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Downturned corners of mouth, ... |
OMIM:613443 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Abnormal nasopharynx morphology, Telecanthus, Wide nasal bridge, Nasal con... |
OMIM:218400 |
Treacher Collins Syndrome 3 |
|
Malar flattening, Hypoplasia of the zygomatic bone, Micrognathia |
OMIM:248390 |
Distal Deletion 13Q |
|
Encephalocele, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosence... |
ORPHA:1590 |
Distal Monosomy 7Q36 |
|
Micrognathia, Non-midline cleft lip, Bulbous nose, Cleft palate, Wide mouth, Upslanted palpebral ... |
ORPHA:1636 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, Depressed nasal bridge, Clef... |
ORPHA:261236 |
Man1B1-Cdg |
|
Thin upper lip vermilion, Epicanthus, Wide nose, Long eyebrows, Prominent nose, Sparse eyebrow, W... |
ORPHA:397941 |
Radio-Tartaglia Syndrome |
|
Dental crowding, Micrognathia, High, narrow palate, Synophrys, High palate, Short philtrum, Antev... |
OMIM:619312 |
Frontorhiny |
|
Encephalocele, Epicanthus, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, ... |
ORPHA:391474 |
X-Linked Intellectual Disability, Najm Type |
|
Optic nerve hypoplasia, Micrognathia, Wide nasal bridge, Chorioretinal coloboma, Long philtrum |
ORPHA:163937 |
Desanto-Shinawi Syndrome |
|
Aggressive behavior, Synophrys, Brachycephaly, Agitation, Attention deficit hyperactivity disorde... |
OMIM:616708 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Mandibular prognathia, Cleft upper lip, Cleft palate, Eyelid coloboma, Malar flattening, Spina bi... |
OMIM:268850 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Epicanthus, Dental crowding, Depressed nasal bridge, Micrognathia, Syno... |
OMIM:617061 |
Chiari Malformation Type Ii |
|
Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia, Agenesis... |
OMIM:207950 |
Perching Syndrome |
|
Cyanosis, Dysphagia |
OMIM:617055 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Micrognathia, Hypoplasia of the premaxilla, Mandibular condyle hypoplasia |
ORPHA:2975 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Epicanthus, Depressed nasal bridge, Bulbous nose, Bilateral microphthalmos... |
ORPHA:369891 |
Rapp-Hodgkin Syndrome |
|
Absent lacrimal punctum, Sparse eyelashes, Depressed nasal bridge, Cleft upper lip, Conical tooth... |
OMIM:129400 |
Wiedemann-Steiner Syndrome |
|
Micrognathia, Synophrys, High palate, Brow ptosis, Exaggerated cupid's bow, Highly arched eyebrow... |
OMIM:605130 |
Filippi Syndrome |
|
Underdeveloped nasal alae, Low hanging columella, Wide nasal bridge, Thin vermilion border, Short... |
OMIM:272440 |
Temtamy Syndrome |
|
Dental crowding, Convex nasal ridge, Highly arched eyebrow, Micrognathia, Hypoplasia of teeth, Ch... |
OMIM:218340 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Aggressive behavior, Synophrys, Brachycephaly, Upslanted palpebral fissure, Ptosis |
OMIM:616083 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Micrognathia, Bulbous nose, Wide nasal bridge, Thin vermilion border, Short philtrum, Aplasia/Hyp... |
ORPHA:261304 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Thickened calvaria, Brachycephaly, Craniosynostosis |
ORPHA:178377 |
Miller-Dieker Syndrome |
|
Abnormal upper lip morphology, Epicanthus, Anteverted nares, Short nose |
ORPHA:531 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Short corpus callosum, Brachycephaly, Ptosis |
OMIM:619972 |
Catifa Syndrome |
|
Delayed eruption of teeth, Epicanthus, Anteverted nares, Cleft lip, Cleft palate, Increased overb... |
OMIM:618761 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Short nose, Cleft palate, Long philtrum |
ORPHA:90653 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Under... |
OMIM:615866 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Broad nasal tip, Recurrent upper respiratory tract infections, Downturned ... |
ORPHA:391372 |
5Q14.3 Microdeletion Syndrome |
|
Anteverted nares, Optic nerve hypoplasia, Short nose, Upslanted palpebral fissure, Short philtrum... |
ORPHA:228384 |
Focal Facial Dermal Dysplasia Type Iii |
|
Epicanthus, Sparse lower eyelashes, Highly arched eyebrow, Depressed nasal ridge, Wide nasal brid... |
ORPHA:1807 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anal stenosis, Telecanthus, Hypoplasia of the maxilla, Wide nasal bridge, ... |
OMIM:601499 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Synophrys, Wide nasal bridge, Narrow palate, Hypoplasia of teeth, Wide mouth, Upsla... |
OMIM:620250 |
Tetrasomy 18P |
|
Epicanthus, Thin vermilion border, Narrow mouth, Short nose, Downslanted palpebral fissures, Long... |
ORPHA:3307 |
Sandestig-Stefanova Syndrome |
|
Laterally extended eyebrow, Epicanthus, Highly arched eyebrow, Retrognathia, Orofacial cleft, Wid... |
OMIM:618804 |
Pontocerebellar Hypoplasia, Type 3 |
|
Reduced cerebral white matter volume, Hypoplasia of the pons, Brachycephaly, Cerebral atrophy, Hy... |
OMIM:608027 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Epicanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Wide anterior fontanel, Cleft... |
ORPHA:163649 |
Mulibrey Nanism |
|
Wide nose, Dental crowding, Depressed nasal bridge, Absent frontal sinuses, Hypoplastic frontal s... |
OMIM:253250 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Thin upper lip vermilion, Thick eyebrow, Perianal abscess, Wide nasal bridge, Wide mouth, Upslant... |
OMIM:614684 |
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Microretrognathia, Prominent nose, Bulbous nose, Wide nasal bridge, High palate, Ptosis |
OMIM:606220 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Anosmia, Hypoplasia of the zygomatic bone, Short nose |
ORPHA:1295 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Micrognathia, High, narrow palate, Temporomandibular joint ankylosis, Wide nasal bridge, Umbilica... |
ORPHA:2872 |
Isolated Exencephaly |
|
Depressed nasal bridge, Abnormal facial skeleton morphology, Abnormal calvaria morphology, Holopr... |
ORPHA:563612 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Entropion, Dental crowding, Anteverted nares, Broad nasal tip, Hypoplasia ... |
OMIM:617402 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Anteverted nares, Depressed nasal br... |
OMIM:152950 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Underdeveloped nasal alae, Patent ductus ar... |
ORPHA:3241 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Telecanthus, Anteverted nares, ... |
ORPHA:438216 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Broad nasal tip, Micrognathia, Cleft upper lip, Cleft palate, Bifid nose, Narrow mouth |
OMIM:239800 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Deafness, X-Linked 7 |
|
Telecanthus, Unilateral microphthalmos, Wide nasal bridge, Thick eyebrow, Ptosis |
OMIM:301018 |
Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Telecanthus, Abnormal nasopharynx morphology, Anteverted nares, Cleft u... |
OMIM:300000 |
Hengel-Maroofian-Schols Syndrome |
|
Epicanthus, Thick eyebrow, Synophrys, Wide nasal bridge, Thick vermilion border, Short philtrum, ... |
OMIM:619641 |
Braddock-Carey Syndrome 1 |
|
Telecanthus, Anteverted nares, Pierre-Robin sequence, Wide nasal bridge, Cleft palate, Anteriorly... |
OMIM:619980 |
Ring Chromosome 6 Syndrome |
|
Epicanthus, Wide nasal bridge |
ORPHA:1448 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Intestinal malrotation, Prominent nasal bridge, Synophrys, Wide nasal b... |
ORPHA:401935 |
Neurooculocardiogenitourinary Syndrome |
|
Epicanthus, Prominent nasal bridge, Patent ductus arteriosus, Downturned corners of mouth, Colobo... |
OMIM:618652 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Thin upper lip vermilion, Wide nasal bridge, Smooth philtrum, Broad nasal tip |
OMIM:620393 |
Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Epicanthus, Thick eyebrow, Highly arched eyebrow, Sy... |
OMIM:618950 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Epicanthus, Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infection... |
OMIM:614069 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Epicanthus, Telecanthus, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft ... |
ORPHA:79113 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Short nose, Abnormal palate morphology, Long philtrum |
ORPHA:1389 |
Aarskog-Scott Syndrome |
|
Anteverted nares, Cleft upper lip, Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, Cu... |
OMIM:305400 |
Skraban-Deardorff Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Absent cupid's bow, Cleft palate, Widely ... |
OMIM:617616 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Telecanthus, Abnormal oral mucosa morphology, Highly arched eyebrow, Micrognathia, Sparse eyebrow... |
ORPHA:1968 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Brachyc... |
ORPHA:93262 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cerebellar vermis hypoplasia, Cyanotic episode, Secondary microcephaly |
OMIM:610992 |
Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Dental crowding, Anteverted nares, Highly arched eyebrow, ... |
OMIM:145420 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Dandy-Walker malformation |
OMIM:603194 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Dela... |
ORPHA:819 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short nose, Thin vermilion border, Narrow mouth |
ORPHA:2370 |
Arthrogryposis, Distal, Type 2B1 |
|
Mandibular prognathia, Micrognathia, Wide nasal bridge, Prominent nasolabial fold, High palate, N... |
OMIM:601680 |
Tetraamelia Syndrome 1 |
|
Choanal atresia, Micrognathia, Cleft upper lip, Single naris, Cleft palate, Microphthalmia, Anal ... |
OMIM:273395 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Epicanthus, Anteverted nares, Selective tooth agenesis, Narrow nose, Cleft u... |
OMIM:164200 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Epicanthus, Wide nasal bridge, High palate, Broad alveolar ridges, Convex nasal ridge |
OMIM:314320 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Broad nasal tip, Abnormality of the dentition |
ORPHA:2776 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Synophrys, Gingival overgrowt... |
OMIM:616977 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Cleft palate, Micrognathia |
OMIM:616570 |
Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Hydrocephalus, Brachycephaly, Multiple suture craniosynostosis, Co... |
ORPHA:207 |
Terminal Osseous Dysplasia |
|
Epicanthus, Telecanthus, Accessory oral frenulum, Cleft palate, Depressed nasal tip, Upslanted pa... |
OMIM:300244 |
Monosomy 18P |
|
Epicanthus, Micrognathia, Carious teeth, Wide nasal bridge, Cleft palate, Downturned corners of m... |
ORPHA:1598 |
Acalvaria |
|
Spina bifida, Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Calvarial s... |
ORPHA:945 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Highly arched eyebrow, Aggressive behavior, Brachycephaly, Upslanted palpebral fis... |
OMIM:600430 |
Joubert Syndrome 26 |
|
Anteverted nares, Cleft lip, Recurrent upper respiratory tract infections, Cleft palate, Ptosis |
OMIM:616784 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Frontal bossing, Epicanthus, Aggressive behavior, Brachycephaly, Upslanted palpebral fissure, Hor... |
OMIM:615828 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bifid uvula, Cleft palate |
OMIM:258320 |
Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
Mohr Syndrome |
|
Telecanthus, Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Micrognathia, Hyp... |
OMIM:252100 |
Fetal Trimethadione Syndrome |
|
Epicanthus, Depressed nasal bridge, Micrognathia, Synophrys, High palate, Short nose, Ptosis |
ORPHA:1913 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Highly arched eyebrow, Microcephaly, Synophrys, Polyphagia, Brachycephaly, Self-in... |
ORPHA:228402 |
Acrofrontofacionasal Dysostosis |
|
Broad nasal tip, Non-midline cleft lip, Cleft palate, Eyelid coloboma, Everted lower lip vermilio... |
ORPHA:1784 |
Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Hydrocephalus, Brachycephaly, Hypoplasia of the corpus callosum, Abnormal shape ... |
OMIM:218350 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Epicanthus, Wide nasal bridge, Broad secondary alveolar ridge, High palate, Convex nasal ridge |
ORPHA:3369 |
Alg2-Cdg |
|
Epicanthus, Wide nasal bridge, Downslanted palpebral fissures, Iris coloboma |
ORPHA:79326 |
Frontonasal Dysplasia 2 |
|
Aplasia of the nasal bone, Cleft ala nasi, Conical tooth, Depressed nasal ridge, Widely spaced te... |
OMIM:613451 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Thin upper lip vermilion, Slender nose, Micrognathia, Wide mouth, Short nose, Smooth philtrum |
OMIM:615419 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Bilateral cleft lip and palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Ptosis |
ORPHA:1473 |
Chromosome 5P13 Duplication Syndrome |
|
Frontal bossing, Epicanthus, Turricephaly, Craniosynostosis, Blepharophimosis, Brachycephaly, Ups... |
OMIM:613174 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Depressed nasal bridge, Patent ductus arteriosus, Sh... |
ORPHA:166272 |
Freeman-Sheldon Syndrome |
|
Abnormality of the dentition, Underdeveloped nasal alae, Narrow mouth, Depressed nasal ridge, Wid... |
ORPHA:2053 |
Spastic Paraplegia 47, Autosomal Recessive |
|
Bulbous nose, Wide nasal bridge, Wide mouth, High palate, Short philtrum |
OMIM:614066 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Aganglionic megacolon, Sparse eyebrow, Wide nasal bridge, Cleft palate, Iris coloboma, Ptosis |
ORPHA:66629 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Depressed nasal bridge, Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, Prominen... |
OMIM:618500 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Epicanthus, Telecanthus, Abnormality of the dentition, Micrognathia, Thick lower lip vermilion, D... |
ORPHA:85321 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
|
Broad nasal tip, Cleft lip, Synophrys, Cleft palate, Upslanted palpebral fissure |
OMIM:300263 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Telecanthus, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Clef... |
OMIM:603671 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Frontal bossing, Telecanthus, Agenesis of cerebellar vermis, Brachycephaly, Upslan... |
ORPHA:228390 |
Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Bulbous nose, Prominent eyelashes, Upslanted palpebral fissure, Thin vermilion ... |
OMIM:616420 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion,... |
OMIM:616898 |
Macrocephaly-Developmental Delay Syndrome |
|
Mandibular prognathia, Microretrognathia, Palpebral edema, Wide nasal bridge, Narrow palpebral fi... |
ORPHA:397612 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Celiac disease, Absent cupid's bow, Synophrys, Bulbous n... |
ORPHA:284169 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Epicanthus, Anteverted nares, Abnormal dental enamel morphology, Promi... |
ORPHA:2107 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Micrognathia, Prominent nose, Long nose, Iris coloboma, Highly arched eyebrow, Optic disc colobom... |
ORPHA:2995 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Narrow nasal bridge, Abnormal zygomatic bone morphology, Unilateral cleft ... |
ORPHA:2511 |
Rauch-Steindl Syndrome |
|
Epicanthus, Telecanthus, Depressed nasal bridge, Miscarriage, Highly arched eyebrow, Micrognathia... |
OMIM:619695 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Thick eyebrow, Anteverted nares, Depressed nasal bridge, Curly eyelashes, Multiple rows of eyelas... |
ORPHA:163654 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose, Thick vermilion border, Long philtrum |
ORPHA:833 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Optic disc colobo... |
OMIM:241310 |
Carpenter Syndrome 2 |
|
Epicanthus, Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Carious teeth, High,... |
OMIM:614976 |
Stevenson-Carey Syndrome |
|
Anteverted nares, Underdeveloped nasal alae, Pierre-Robin sequence, Downturned corners of mouth, ... |
OMIM:611961 |
Pentasomy X |
|
Upslanted palpebral fissure, Patent ductus arteriosus, Wide nasal bridge, Micrognathia |
ORPHA:11 |
Tonne-Kalscheuer Syndrome |
|
Prominent nasal bridge, Micrognathia, Prominent nose, Velopharyngeal insufficiency, Wide nasal br... |
OMIM:300978 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Thin upper lip vermilion, Dental crowding, Anteverted nares, Synophrys, Pierre-Robin sequence, An... |
OMIM:617877 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Sparse eyelashes, Sparse eyebrow, Bifid nasal tip, Unilateral microphth... |
OMIM:618874 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Sparse eyelashes, Anteverted nares, Micrognathia, Carious teeth, Sparse eyebrow, Blepharophimosis... |
OMIM:613026 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Micrognathia, Patent ductus arteriosus, Duodenal stenosis, Microphthalmia, Short nose |
ORPHA:2547 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Mandibular prognathia, Wide nasal bridge, Prominent nose |
ORPHA:137831 |
Roberts-Sc Phocomelia Syndrome |
|
Malar flattening, Cleft upper lip, Micrognathia, Underdeveloped nasal alae, Patent ductus arterio... |
OMIM:268300 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Epicanthus, Prominence of the premaxilla, Prominent nose, Wide anterior fontanel, Patent ductus a... |
OMIM:614886 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Micrognathia, Wide nasal bridge, Long philtrum, Downslanted palpebral fissures, Smooth philtrum |
OMIM:618821 |
Xq28 (MECP2) duplication |
|
Microcephaly, Brachycephaly, Death in childhood, Hypoplasia of the corpus callosum, Dysphagia, Ab... |
DECIPHER:45 |
Achondrogenesis |
|
Anteverted nares, Micrognathia, Long philtrum, Umbilical hernia, Short nose |
ORPHA:932 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Epicanthus, Craniosynostosis, Microcephaly, Brachycephaly, Upslanted palpebral fissure, Plagiocep... |
ORPHA:2163 |
Spastic Paraplegia 52, Autosomal Recessive |
|
Prominent nose, Bulbous nose, Wide nasal bridge, Wide mouth, Thick vermilion border, High palate,... |
OMIM:614067 |
Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Intestinal malrotation, Wide anterior fontanel, Umbilical hernia, Short n... |
ORPHA:2143 |
Zaki Syndrome |
|
Wide nose, Anteverted nares, Micrognathia, Sparse eyebrow, Patent ductus arteriosus, Wide nasal b... |
OMIM:619648 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Epicanthus, Sparse eyelashes, Underdeveloped nasal alae, Hypoplasia of the maxilla, Sparse eyebro... |
ORPHA:306542 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Anteverted nares, Depressed nasal br... |
ORPHA:435638 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Thick nasal alae, Micrognathia, Retrognathia, Chorioretinal coloboma, Short nose, Meckel divertic... |
ORPHA:163961 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Frontal bossing, Epicanthus, Hyperactivity, Aggressive behavior, Microcephaly, Synophrys, Brachyc... |
ORPHA:3306 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Sparse eyelashes, Cleft upper lip, Sparse eyebrow, Cleft palate, Hyp... |
OMIM:225060 |
Kapur-Toriello Syndrome |
|
Intestinal malrotation, Cleft upper lip, Bulbous nose, Patent ductus arteriosus, Cleft palate, Re... |
OMIM:244300 |
Cornelia De Lange Syndrome 5 |
|
Telecanthus, Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Micrognathia, Broad... |
OMIM:300882 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Epicanthus, Patent ductus arteriosus, Dental malocclusion, Wide nasal b... |
OMIM:619149 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Thick eyebrow, Anteverted nares, Intestinal malrotation, Highly arched ... |
OMIM:614701 |
Microphthalmia, Syndromic 13 |
|
Widely-spaced incisors, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Ptosis |
OMIM:300915 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Sparse eyebrow, Open mouth, Wide nasal bridge, Long palpebral fissure |
OMIM:600906 |
Coffin-Siris Syndrome 3 |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Cleft palate, Wide mouth, Macroglossia, Dela... |
OMIM:614608 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Intestinal obstruction, Telecanthus, Aganglionic megacolon, White ey... |
ORPHA:897 |
Gorlin Syndrome |
|
Mandibular prognathia, Epicanthus, Telecanthus, Carious teeth, Wide nasal bridge, Abnormality of ... |
ORPHA:377 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Unilateral ptosis, Bilateral microphthalmos, Unilateral microphthalmos, Coloboma, Anal atresia, L... |
OMIM:619318 |
Treacher Collins Syndrome 4 |
|
Micrognathia, Lower eyelid coloboma, Cleft palate, Choanal stenosis, Malar flattening, Downslante... |
OMIM:618939 |
Multiple Pterygium Syndrome, X-Linked |
|
Epicanthus, Multiple pterygia, Micrognathia, Cleft upper lip, Depressed nasal ridge, Cleft palate |
OMIM:312150 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Frontal bossing, Brachycephaly, Dysphagia |
OMIM:264470 |
Distal Duplication 5Q |
|
Epicanthus, Prominent nasal bridge, Micrognathia, Carious teeth, Narrow mouth, Thin vermilion bor... |
ORPHA:96097 |
Peho Syndrome |
|
Epicanthus, Tented upper lip vermilion, Open mouth, Retrognathia, Short nose |
OMIM:260565 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bridg... |
ORPHA:2180 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Micrognathia, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Microphthalmia |
ORPHA:93267 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Brachycephaly, Aplasia/Hypoplasia of the corpus callosum, Plagiocephaly, Dolichoce... |
ORPHA:272 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Choanal atresia, Midnasal sten... |
ORPHA:280200 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Telecanthus, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, ... |
ORPHA:314655 |
Williams-Beuren Region Duplication Syndrome |
|
Cerebellar vermis hypoplasia, Cutis marmorata, Hydrocephalus, Brachycephaly, Long eyelashes, Hori... |
OMIM:609757 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Blepharophimosis, Wide nasal bridge, Micrognathia |
OMIM:612626 |
3Q29 Microduplication Syndrome |
|
Abnormality of the dentition, Deep philtrum, Wide nasal bridge, Cleft palate, Ectopic anus, High ... |
ORPHA:251038 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Triangular mouth, Wide nasal bridge |
ORPHA:166024 |
Orofaciodigital Syndrome Xvii |
|
High, narrow palate, Median cleft lip, Retrognathia, Prominent nose |
OMIM:617926 |
Holoprosencephaly |
|
Flat occiput, Depressed nasal ridge, Absent nares, Holoprosencephaly, Aplasia/Hypoplasia of the c... |
ORPHA:2162 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Thin upper lip vermilion, Highly arched eyebrow, Underdeveloped nasal alae, Cleft palate, Malar f... |
OMIM:611867 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Anteverted nares, Abnormality of th... |
OMIM:616331 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Epicanthus, Tented upper lip vermilion, Telecanthus, Anteverted nares, Wide ... |
OMIM:619383 |
Nablus Mask-Like Facial Syndrome |
|
Thin upper lip vermilion, Telecanthus, Sparse eyelashes, Anteverted nares, Highly arched eyebrow,... |
OMIM:608156 |
Lissencephaly 4 |
|
Wide nasal bridge |
OMIM:614019 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Epicanthus, Cerebellar vermis hypoplasia, Sagittal craniosynostosis, Sparse eyebrow, Hydrocephalu... |
ORPHA:459061 |
Split hand/foot malformation 1 (SHFM1) |
|
Median cleft lip, Cleft palate |
DECIPHER:46 |
Congenital Disorder Of Glycosylation, Type Id |
|
Epicanthus, Villous atrophy, Depressed nasal bridge, Bulbous nose, Wide nasal bridge, High palate... |
OMIM:601110 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Epicanthus, Prominent nasal bridge, Optic nerve hypoplasia, Micrognathia, Broad nasal tip, Abnorm... |
OMIM:300749 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida, Ptosis |
OMIM:311000 |
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 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Epicanthus, Abnormality of the philtrum, Non-midline cleft lip, Cleft palate, Short columella, Um... |
ORPHA:1770 |
Al Kaissi Syndrome |
|
Thin upper lip vermilion, Epicanthus, Telecanthus, Macrodontia, Depressed nasal bridge, Broad nas... |
OMIM:617694 |
Trichorhinophalangeal Syndrome Type 2 |
|
Thin upper lip vermilion, Thick eyebrow, Abnormality of the dentition, Supernumerary tooth, Deep ... |
ORPHA:502 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Hypoplasia of the corpus callosum, Brachycephaly, Cerebral atrophy, Microcephaly |
ORPHA:320385 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, O... |
OMIM:619356 |
Chromosome 9P Deletion Syndrome |
|
Thin upper lip vermilion, Epicanthus, Anteverted nares, Depressed nasal bridge, Highly arched eye... |
OMIM:158170 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Brachycephaly, Microcephaly |
ORPHA:93950 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Vitamin K Antagonist Embryofetopathy |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Myelomeningocele, Macroglossia, Short ... |
ORPHA:1914 |
16P12.1P12.3 Triplication Syndrome |
|
Unilateral ptosis, Epicanthus, Thick eyebrow, High, narrow palate, Bulbous nose, Wide mouth, Thin... |
ORPHA:485405 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Death in infancy, Epicanthus, Sparse eyelashes, Micrognathia, Carious teeth, Sparse eyebrow, Alve... |
OMIM:620070 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Micrognathia, Depressed nasal ridge, Wide mouth, Short philtrum, Microphthalmia... |
ORPHA:163966 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Thin upper lip vermilion, Epicanthus, Anteverted nares, Bulbous nose, Thick lower lip vermilion, ... |
OMIM:220500 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Absent lacrimal punctum, Sparse eyelashes, Abnormal dental enamel morp... |
ORPHA:1071 |
Semilobar Holoprosencephaly |
|
Median cleft lip, Proboscis, Depressed nasal ridge, Single naris, Cleft palate, Neural tube defec... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Median cleft lip, Proboscis, Depressed nasal ridge, Single naris, Cleft palate, Neural tube defec... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Median cleft lip, Proboscis, Depressed nasal ridge, Single naris, Cleft palate, Neural tube defec... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Median cleft lip, Proboscis, Depressed nasal ridge, Single naris, Cleft palate, Neural tube defec... |
ORPHA:93924 |
Trisomy 13 |
|
Median cleft lip, Anophthalmia, Abnormality of the dentition, High, narrow palate, Cleft palate, ... |
ORPHA:3378 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Synophrys, Wide nasal bridge, Downturned corners of mouth, Wide mouth, ... |
OMIM:618067 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Cleft palate, Cleft upper lip |
ORPHA:398189 |
Trisomy 1Q |
|
Wide nose, Anophthalmia, Depressed nasal bridge, Hydrocephalus, Cleft palate, Narrow mouth, Anal ... |
ORPHA:261344 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Medial flaring of the eyebrow, Frontal bossing, Microcephaly, Brachycephaly, Attention deficit hy... |
OMIM:617364 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Mandibular prognathia, Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the cerebellum, Ma... |
ORPHA:2715 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Depressed nasal bridge, Almond-shaped palpebral fissure, Epiblepharon, Bul... |
OMIM:619103 |
Carey-Fineman-Ziter Syndrome |
|
Epicanthus, Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequen... |
ORPHA:1358 |
Aminopterin Syndrome Sine Aminopterin |
|
Frontal bossing, Highly arched eyebrow, Megalencephaly, Microcephaly, Brachycephaly, Narrow palpe... |
OMIM:600325 |
9q subtelomeric deletion syndrome |
|
Synophrys, Anteverted nares, Short nose, Protruding tongue |
DECIPHER:52 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Preauricular pit, Choanal atresia, Micrognathia, Hypoplasia of the zygomatic b... |
OMIM:613717 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Epicanthus, Anteverted nares, Wide nasal bridge, Upslanted palpebral fissure, High palate |
ORPHA:50812 |
Cantu Syndrome |
|
Epicanthus, Anteverted nares, Depressed nasal bridge, Curly eyelashes, Patent ductus arteriosus, ... |
OMIM:239850 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele, Coloboma, Orofacial cleft |
ORPHA:324416 |
Oculotrichoanal Syndrome |
|
Anal stenosis, Anophthalmia, Bifid nasal tip, Anteriorly placed anus, Microphthalmia |
ORPHA:2717 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Frontal bossing, Epicanthus, Microcephaly, Brachycephaly, Cerebral atrophy, Plagiocephaly, Hypopl... |
OMIM:616801 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Short lingual frenulum, Downturned corners of mouth, Short philtrum, Microdontia, Spina bifida oc... |
OMIM:617360 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Brachycephaly, Thick corpus callosum, Upslanted palpebral fissure, Plagiocephaly, Prominent occip... |
OMIM:618672 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Hypoplasia of the corpus callosum, Brachycephaly, Cerebral atrophy, Microcephaly |
OMIM:615031 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Prominent nose, Micrognathia |
OMIM:616171 |
Otopalatodigital Syndrome Type 1 |
|
Depressed nasal bridge, Hypoplastic frontal sinuses, Wide nasal bridge, Cleft palate, Oligodontia... |
ORPHA:90650 |
Achondrogenesis Type 1B |
|
Anteverted nares, Micrognathia, Long philtrum, Umbilical hernia, Short nose |
ORPHA:93298 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Epicanthus, Tented upper lip vermilion, Dental crowding, Telecanthus, Depressed nasal bridge, Cle... |
OMIM:612582 |
Cardiofaciocutaneous Syndrome |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Hydrocephalus, Full cheeks, Hypoplasia... |
ORPHA:1340 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Cleft palate, Neonatal death, Microphthalmia, Iris... |
ORPHA:85284 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Wide nasal bridge |
OMIM:614870 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Thin upper lip vermilion, Epicanthus, Telecanthus, Depressed nasal bridge, Optic nerve hypoplasia... |
OMIM:612513 |
Acrocephalopolydactyly |
|
Epicanthus, Depressed nasal ridge, Short nose |
ORPHA:221054 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Convex nasal ridge, Cleft palate |
OMIM:600252 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Dental crowding, Depressed nasal bridge, Choanal atresia, Hypoplasia of th... |
OMIM:101600 |
Isolated Dandy-Walker Malformation |
|
Encephalocele, Cleft palate |
ORPHA:217 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Tented upper lip vermilion, Short philtrum |
ORPHA:85277 |
Prolidase Deficiency |
|
Depressed nasal bridge, Micrognathia, Carious teeth, Depressed nasal ridge, Hypoplasia of the zyg... |
ORPHA:742 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Short philtrum |
ORPHA:93945 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Highly arched eyebrow, Short nose, Downturned corners of mouth, Everted l... |
OMIM:617865 |
Genitopalatocardiac Syndrome |
|
Micrognathia, Non-midline cleft lip, Wide nasal bridge, Cleft palate, Downturned corners of mouth... |
ORPHA:2075 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Anteverted nares, Underdeveloped nasal alae, Meningocele, Glossoptosis, Chorioretinal coloboma, B... |
ORPHA:2031 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Anteverted nares, Wide nasal bridge, Midline notch of upper alveolar ridge |
OMIM:617127 |
2Q32Q33 Microdeletion Syndrome |
|
Dental crowding, Anteverted nares, Prominent nasal bridge, Micrognathia, Cleft palate, Oligodonti... |
ORPHA:251019 |
Non-Syndromic Metopic Craniosynostosis |
|
Synophrys, Wide nasal bridge |
ORPHA:3366 |
Bartsocas-Papas Syndrome 2 |
|
Accessory oral frenulum, Micrognathia, Wide anterior fontanel, Antecubital pterygium, Ankylobleph... |
OMIM:619339 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Cerebral calcification, Spina bifida, Micrognathia, Microcephaly, Myelomeningoc... |
ORPHA:1393 |
Renpenning Syndrome |
|
Mandibular prognathia, Epicanthus, Macrodontia, Prominent nose, High, narrow palate, Cleft palate... |
ORPHA:3242 |
Muenke Syndrome |
|
Brachycephaly, Plagiocephaly, Attention deficit hyperactivity disorder, Coronal craniosynostosis,... |
OMIM:602849 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Prominent nasal bridge, Micrognathia, Carious teeth, Prominent nose, D... |
OMIM:214150 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Synophrys, Oligodontia, High palate, Exaggerated median... |
OMIM:608670 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Abnormal external nose morphology, Prominent occiput, Hypoplasia of the zygomatic bone, Holoprose... |
ORPHA:556955 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Depressed nasal bridge, Pierre-Robin sequence, Anteverted nares, Cleft palate |
OMIM:184840 |
Potocki-Shaffer Syndrome |
|
Parietal foramina, Epicanthus, Brachycephaly |
ORPHA:52022 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Epicanthus, High palate, Wide nasal bridge, Depressed nasal bridge |
OMIM:615760 |
Trisomy 9P |
|
Dental crowding, Abnormal nasal morphology, Non-midline cleft lip, Impacted tooth, Downturned cor... |
ORPHA:236 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Telecanthus, Median cleft lip, Broad nasal tip, Bifid nasal tip, Meningocele, Wide... |
ORPHA:1827 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Highly arc... |
OMIM:619124 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Natal tooth, Microretrognathia, Hamartoma of tongue, Prominent nose, Sparse eyebro... |
OMIM:616300 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Frontal bossing, Telecanthus, Poor wound healing, Brachycephaly, Cerebral atrophy, Downslanted pa... |
OMIM:615539 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Single naris, Chronic sinusitis, Ptosis |
OMIM:615636 |
Iniencephaly |
|
Encephalocele, Spina bifida, Abnormal occipital bone morphology, Hydrocephalus, Myelomeningocele,... |
ORPHA:63259 |
Diamond-Blackfan Anemia 8 |
|
Short nose, Thick upper lip vermilion, Wide nasal bridge |
OMIM:612563 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Prominent nasal bridge, Prominent nose, Abnormality of the dentition, Supe... |
ORPHA:627 |
Cerebrofaciothoracic Dysplasia |
|
Epicanthus, Thick eyebrow, Wide nose, Cleft upper lip, Synophrys, Cleft palate, Wide mouth, Short... |
ORPHA:1394 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Anteverted nares, Wide nasal bridge, Cleft palate, Upslanted palpebral fissure, Spina bifida occulta |
ORPHA:1797 |
Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Turricephaly, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Cranios... |
OMIM:601853 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Median cleft palate |
ORPHA:2432 |
Codas Syndrome |
|
Delayed eruption of teeth, Epicanthus, Abnormal dental morphology, Abnormal dental enamel morphol... |
ORPHA:1458 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Epicanthus, Micrognathia, Wide nasal bridge, High palate, Malar flattening, Retrognathia, Downsla... |
ORPHA:98791 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Prominent nasal bridge, Micrognathia, Optic nerve hypopl... |
OMIM:243605 |
Achondrogenesis Type 1A |
|
Anteverted nares, Micrognathia, Long philtrum, Umbilical hernia, Short nose |
ORPHA:93299 |
Nasal Bones, Absence Of |
|
Short columella, Narrow naris |
OMIM:161480 |
Momo Syndrome |
|
Delayed eruption of teeth, Epicanthus, Thick lower lip vermilion, Dental malocclusion, Bilateral ... |
ORPHA:2563 |
Oculoskeletodental Syndrome |
|
Epicanthus, Thick nasal alae, Depressed nasal bridge, Abnormality of the dentition, Wide nasal br... |
ORPHA:557003 |
Bainbridge-Ropers Syndrome |
|
Dental crowding, Micrognathia, Synophrys, High palate, Choanal stenosis, Death in infancy, Anteve... |
OMIM:615485 |
Ohdo Syndrome, X-Linked |
|
Ptosis, Epicanthus, Depressed nasal bridge, Hiatus hernia, Micrognathia, Sparse eyebrow, Blepharo... |
OMIM:300895 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Microretrognathia, Depressed nasal bridge, Patent ductus arteriosus, Wide nasal bridge, Narrow pa... |
OMIM:220220 |
Trisomy 18 |
|
Microretrognathia, Choanal atresia, Spina bifida, Microcephaly, Anencephaly, Aplasia/Hypoplasia o... |
ORPHA:3380 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Anteverted nares, Depressed nasal b... |
ORPHA:950 |
Smith-Kingsmore Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Wide anterior fontanel, Short nose, Wide mouth,... |
OMIM:616638 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Entropion, Bulbous nose, Wide nasal bridge, Narrow naris, Blepharophimosis, Retrognathia, Downsla... |
OMIM:617403 |
Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Prominent nasal bridge, Abnormality of the dentiti... |
ORPHA:193 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Prominent nasal bridge, Highly arched eyebrow, Wide nasal bridge, High ... |
OMIM:617452 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Short nose |
OMIM:618379 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Pursed lips, Anteverted nares, Micrognathia, Wide nasal bridge, Prominent nasolabial fold, Short ... |
OMIM:616266 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Prominent nasal bridge |
OMIM:300676 |
Seckel Syndrome 2 |
|
Prominent nose, Micrognathia, Microdontia, Microphthalmia, Microglossia |
OMIM:606744 |
Chopra-Amiel-Gordon Syndrome |
|
Microcephaly, Almond-shaped palpebral fissure, Brachycephaly, Upslanted palpebral fissure, Attent... |
OMIM:619504 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Anteverted nares, Cleft soft palate, Abnormality of the dentition, Micrognathia, Broad nasal tip,... |
OMIM:618529 |
Intellectual Developmental Disorder, Autosomal Recessive 70 |
|
Retrognathia, Wide nasal bridge |
OMIM:618402 |
Waardenburg Syndrome, Type 1 |
|
Mandibular prognathia, Telecanthus, White eyelashes, White eyebrow, Thick eyebrow, Spina bifida, ... |
OMIM:193500 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Epicanthus, Telecanthus, Anteverted nares, Choanal atresia, Micrognathia, Esophageal atresia, Dee... |
OMIM:610536 |
Heart And Brain Malformation Syndrome |
|
Anteverted nares, Depressed nasal bridge, High, narrow palate, Cleft lip, Thick lower lip vermili... |
OMIM:616920 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Brachycephaly |
OMIM:309545 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Abnormal dental enamel m... |
ORPHA:439822 |
Omodysplasia 2 |
|
Tented upper lip vermilion, Depressed nasal bridge, Bilateral cleft lip, Micrognathia, Bifid nasa... |
OMIM:164745 |
Lowry-Maclean Syndrome |
|
Short nasal bridge, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia ... |
ORPHA:2409 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Short nose, Highly arched eyebrow, Long philtrum |
OMIM:300887 |
Lujan-Fryns Syndrome |
|
Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Aplasia/Hypoplasi... |
ORPHA:776 |
Pterygium Colli, Isolated |
|
Epicanthus, Short nose |
OMIM:177990 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Micrognathia, Wide nasal bridge, Cleft palate, Narrow mouth, Short nose |
OMIM:614078 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Epicanthus, Exaggerated cupid's bow, Micrognathia, Underdeveloped nasal alae, Wide nasal bridge, ... |
OMIM:614230 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Wide nose, Anteverted nares, Depressed nasal bridge, Thick lower lip v... |
OMIM:614607 |
Hemifacial Microsomia With Radial Defects |
|
Short mandibular rami, Non-midline cleft lip, Cleft palate, Orofacial cleft |
OMIM:141400 |
Neonatal Adrenoleukodystrophy |
|
Anteverted nares, Wide anterior fontanel, Wide nasal bridge, Abnormal palate morphology, Ptosis |
ORPHA:44 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Wide nasal bri... |
ORPHA:3079 |
20Q11.2 Microduplication Syndrome |
|
Epicanthus, Tented upper lip vermilion, Palpebral edema, Anteverted nares, Depressed nasal bridge... |
ORPHA:363659 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Choanal atresia, Cleft lip, Synophrys, Dental malocclusion, Lacrimal ... |
OMIM:603457 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Narrow mouth, Wide nasal bridge, Downturned corners of mouth, Wide mouth, Short philtrum, Long ph... |
OMIM:617333 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Microcephaly, Abnormal globus pallidus morphology, Brachycephaly, Plagiocephaly, Hypoplasia of th... |
OMIM:618603 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Thin upper lip vermilion, Epicanthus, Wide nose, Anteverted nares, Micrognathia, Synophrys, Hypop... |
ORPHA:391408 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Wide nose, Epicanthus, Depressed nasal ridge, Short nose |
ORPHA:2831 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Epicanthus, Depressed nasal bridge, Microphthalmia, Downslanted palpebral fissures, Smooth philtrum |
OMIM:602501 |
Manitoba Oculotrichoanal Syndrome |
|
Anal stenosis, Anophthalmia, Broad nasal tip, Bifid nasal tip, Anteriorly placed anus, Microphtha... |
OMIM:248450 |
Craniosynostosis, Herrmann-Opitz Type |
|
Micrognathia, Cleft palate, Malar flattening, Short nose, Convex nasal ridge |
ORPHA:2145 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Epicanthus, Anteverted nares, Downturned corners of mouth, Thick vermilion border, Short nose, Sp... |
ORPHA:1185 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Prominent nasal bridge, Micrognathia, Wide nasal bridge, Cleft palate, Glossoptosis |
OMIM:618356 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Malar flatte... |
OMIM:601808 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Thin vermilion border, Neonatal deat... |
OMIM:610015 |
Even-Plus Syndrome |
|
Highly arched eyebrow, Bifid nasal tip, Synophrys, Depressed nasal ridge, High palate, Hypodontia... |
OMIM:616854 |
Triploidy |
|
Intestinal malrotation, Non-midline cleft lip, Hydrocephalus, Meningocele, Cleft palate, Wide mou... |
ORPHA:3376 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2736 |
Autosomal Dominant Omodysplasia |
|
Depressed nasal bridge, Micrognathia, Long philtrum, Malar flattening, Short nose |
ORPHA:93328 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal nostril morphology, Anal atresia, Narrow mouth |
ORPHA:3469 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Unilateral ptosis, Thin upper lip vermilion, Micrognathia, Patent ductus arteriosus, Wide nasal b... |
ORPHA:3304 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, Macrocephaly, Prominent nasal bridge, Microcephaly |
ORPHA:85279 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Micrognathia, Cleft palate, Orofacial cleft, Upslanted palpebral fissur... |
ORPHA:1988 |
Benign Samaritan Congenital Myopathy |
|
Epicanthus, Wide nasal bridge, Narrow mouth |
ORPHA:324581 |
Muenke Syndrome |
|
Hydrocephalus, Brachycephaly, Plagiocephaly, Coronal craniosynostosis, Ptosis |
ORPHA:53271 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Epicanthus, Anteverted nares, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Un... |
OMIM:619122 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Narrow nasal bridge, Thin upper lip vermilion, Dental crowding, Prominent nasal bridge, Micrognat... |
OMIM:309520 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Telecanthus, Dental crowding, Palpebral edema, Depressed nasal bridge, Deep philtrum, Patent duct... |
ORPHA:397709 |
Fetal Hydantoin Syndrome |
|
Epicanthus, Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Short n... |
ORPHA:1912 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Intestinal malrotation, Highly arched eyebrow,... |
OMIM:618316 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Hypoplasia of the maxilla, Wide nasal bridge, High palate, Short nose, Ptosis |
OMIM:218000 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Epicanthus, Wide nasal bridge, Upslanted palpebral fissure, High palate, Iris coloboma |
OMIM:607906 |
Bamforth-Lazarus Syndrome |
|
Cleft palate, Bilateral choanal atresia |
OMIM:241850 |
Snijders Blok-Campeau Syndrome |
|
Epicanthus, Prominent nose, Wide nasal bridge, Taurodontia, High palate, Widely spaced teeth, Umb... |
OMIM:618205 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Dental malocclusion, Unilateral narrow palpebral fis... |
OMIM:618727 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Coloboma |
OMIM:613094 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hyposmia, Anosmia, Cleft palate, Cleft upper lip |
OMIM:244200 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Epicanthus, Sinusitis, Anteverted nares, Depressed nasal bridge, Malabsorption, Micrognathia, Pro... |
OMIM:242860 |
Insulin-Like Growth Factor I, Resistance To |
|
Thin upper lip vermilion, Thick eyebrow, Rieger anomaly, Highly arched eyebrow, Micrognathia, Syn... |
OMIM:270450 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Micrognathia, Wide nasal bridge, Narrow mouth, Neonatal death, Malar fla... |
OMIM:224410 |
Hypoglossia-Hypodactyly Syndrome |
|
Death in infancy, Telecanthus, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, W... |
ORPHA:989 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Prominent nasal bridge, M... |
ORPHA:371364 |
8Q21.11 Microdeletion Syndrome |
|
Epicanthus, Wide nose, Exaggerated cupid's bow, Abnormality of the dentition, Micrognathia, Under... |
ORPHA:284160 |
Micro Syndrome |
|
Anteverted nares, Micrognathia, Wide nasal bridge, High palate, Short philtrum, Retinal coloboma,... |
ORPHA:2510 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, P... |
ORPHA:293939 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Everted upper lip vermilion, Abnormality of the dentition, Velopharyngeal ... |
OMIM:182290 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Medial flaring of the eyebrow, Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nas... |
OMIM:619833 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors, High palate, ... |
OMIM:309580 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Telecanthus, Depressed nasal bridge, Carious teeth, Wide nasal bridge, Thick vermilion border, Wi... |
OMIM:617102 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Synophrys, Downturned corners of mouth, Thin vermilion border, Short philtrum, Short nose, Spina ... |
ORPHA:2983 |
Stickler Syndrome, Type Ii |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, High, narrow palate, Pierre-Robin sequenc... |
OMIM:604841 |
3C Syndrome |
|
Death in infancy, Depressed nasal bridge, Intestinal malrotation, Micrognathia, High, narrow pala... |
ORPHA:7 |
Goldberg-Shprintzen Syndrome |
|
Telecanthus, Aganglionic megacolon, Prominent nasal bridge, Highly arched eyebrow, Hypoplasia of ... |
OMIM:609460 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Frontal bossing, Hyperactivity, Epicanthus, Aggressive behavior, Brachycephaly, Plagiocephaly, Co... |
OMIM:618430 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Downslanted palpebral fissures, Brachycephaly, Craniosynostosis |
ORPHA:314575 |
Fryns Syndrome |
|
Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Micr... |
ORPHA:2059 |
Histidinuria Due To A Renal Tubular Defect |
|
Thin upper lip vermilion, Wide nasal bridge, Smooth philtrum, Long philtrum |
OMIM:235830 |
Developmental And Epileptic Encephalopathy 75 |
|
Anteverted nares, Wide nasal bridge, Upslanted palpebral fissure, Short philtrum, Open mouth, Sho... |
OMIM:618437 |
Isotretinoin Syndrome |
|
Spina bifida occulta, Depressed nasal bridge, Cleft palate |
ORPHA:2305 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Dental crowding, Anteverted nares, Micrognathia, Pierre-Robin sequence, Cleft ... |
OMIM:617201 |
Laryngeal Abductor Paralysis |
|
Microcephaly, Cyanosis, Dysphagia |
OMIM:150260 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Hamartoma of tongue, Cleft upper lip, Supernume... |
OMIM:311200 |
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Microcephaly, Brachycephaly, Temporal cortical atrophy, Upslanted palpebral fissure, Plagiocephal... |
OMIM:618862 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Broad nasal tip, Submucous cleft hard palate, Wide nasal brid... |
OMIM:618106 |
Amyotrophy, Hereditary Neuralgic |
|
Epicanthus, Depressed nasal bridge, Cleft palate, Upslanted palpebral fissure, Narrow mouth, Blep... |
OMIM:162100 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Epicanthus, Telecanthus, Prominent nasal bridge, Micrognathia, Carious... |
OMIM:223370 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Epicanthus, Anteverted nares, Intestinal malrotation, Depressed nasal bri... |
OMIM:605039 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Wide nose, Abnormality of upper lip vermillion, Dental crowding, Prominent nasal bridge, Abnormal... |
ORPHA:251028 |
Koolen-De Vries Syndrome |
|
Epicanthus, Abnormal dental enamel morphology, Prominent nasal bridge, Abnormality of the dentiti... |
ORPHA:96169 |
Postaxial Acrofacial Dysostosis |
|
Choanal atresia, Cleft upper lip, Conical tooth, Midgut malrotation, Pyloric stenosis, Micrognath... |
OMIM:263750 |
Woods Syndrome |
|
Thin vermilion border, Wide nasal bridge, Low hanging columella |
OMIM:615236 |
Hajdu-Cheney Syndrome |
|
Wide nose, Anteverted nares, Micrognathia, Absent frontal sinuses, Dolichocephaly, Hydrocephalus,... |
ORPHA:955 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Prematurely aged appearance, Microcephaly, Brachycephaly, Midface retrusion, Cerebral cortical at... |
ORPHA:1387 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Midface retrusio... |
ORPHA:1540 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Pursed lips, Epicanthus, Slender nose, Micrognathia, Wide nasal bridge, Short columella, High pal... |
ORPHA:562528 |
White-Kernohan Syndrome |
|
Tented upper lip vermilion, Synophrys, Broad medial eyebrow, Epicanthus inversus, Anteriorly plac... |
OMIM:619426 |
Myoclonic-Astatic Epilepsy |
|
Thin upper lip vermilion, Anteverted nares, Thick lower lip vermilion, Wide nasal bridge, Wide mo... |
ORPHA:1942 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Broad nasal tip, Bifid nasal tip, Wide mouth, Upslanted palpebral fissure, Median pseudocleft lip... |
OMIM:619758 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Telecanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Wide anterior fontanel, Pate... |
OMIM:217980 |
Genitopalatocardiac Syndrome |
|
Micrognathia, Cleft palate, Cleft upper lip |
OMIM:231060 |
Spinocerebellar Ataxia 47 |
|
High palate, Wide nasal bridge, Ptosis |
OMIM:617931 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Odontogenic keratocysts of the jaw, Spina bifida, Cleft upper lip, Hamarto... |
OMIM:109400 |
Rapadilino Syndrome |
|
Slender nose, Sparse eyelashes, Sparse eyebrow, High, narrow palate, Cleft palate, Narrow palpebr... |
OMIM:266280 |
Rere-Related Neurodevelopmental Syndrome |
|
Epicanthus, Anteverted nares, Choanal atresia, Micrognathia, Chorioretinal coloboma, Blepharophim... |
ORPHA:494344 |
Joubert Syndrome 37 |
|
Wide nose, Anteverted nares, Wide nasal bridge, High palate, Microphthalmia, Ptosis |
OMIM:619185 |
Keratoconus Posticus Circumscriptus |
|
Cleft palate, Cleft upper lip |
OMIM:244600 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Micrognathia, Patent ductus arte... |
OMIM:301043 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Epicanthus, Depressed nasal bridge, Micrognathia, Narrow mouth, Cleft palate, Upslanted palpebral... |
OMIM:156610 |
Developmental And Epileptic Encephalopathy 80 |
|
Death in infancy, Tented upper lip vermilion, Protruding tongue, Micrognathia, Wide nasal bridge,... |
OMIM:618580 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Anosmia, Cleft palate |
OMIM:612370 |
Cat-Eye Syndrome |
|
Chorioretinal coloboma, Microphthalmia, Downslanted palpebral fissures, Iris coloboma, Anal atresia |
ORPHA:195 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Micrognathia, Short philtrum, Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Cl... |
OMIM:618454 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Thin upper lip vermilion, Choanal atresia, Lip pit, Micrognathia, Non-midline cleft lip, Fibrous ... |
ORPHA:1300 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bri... |
OMIM:614749 |
Autosomal Recessive Omodysplasia |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Long philtrum, Pterygium, Short nose |
ORPHA:93329 |
Atelis Syndrome 2 |
|
Epicanthus, Remnants of the hyaloid vascular system, Micrognathia, Diastema, Prominent nose, Bulb... |
OMIM:620185 |
Waardenburg Syndrome, Type 3 |
|
Mandibular prognathia, Telecanthus, Aganglionic megacolon, Prominent nasal bridge, Synophrys, Wid... |
OMIM:148820 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Hypoplasia of the zygomatic bone, Brachycephaly |
OMIM:614800 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Epicanthus, Wide nose, Anteverted nares, Highly arched eyebrow, Cleft upper lip, Micrognathia, Hy... |
OMIM:213980 |
16P11.2P12.2 Microdeletion Syndrome |
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Microretrognathia, Epicanthus, Anteverted nares, Long nose, Bulbous nose, Orofacial cleft, Absent... |
ORPHA:261211 |
Down Syndrome |
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Epicanthus, Aganglionic megacolon, Depressed nasal bridge, Protruding tongue, Abnormality of the ... |
ORPHA:870 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
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Epicanthus, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prominent nasal... |
OMIM:300260 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
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Micrognathia, Prominent nose, Wide anterior fontanel, Wide nasal bridge, High palate, Short philt... |
OMIM:201170 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Telecanthus, Hydrocephalus, Brachycephaly, Agenesis of corpus callosum, Absent extraocular muscles |
OMIM:109120 |
Microphthalmia, Syndromic 5 |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cleft palate |
OMIM:610125 |
Temtamy Preaxial Brachydactyly Syndrome |
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Abnormal spaced incisors, Abnormality of the dentition, Abnormality of canine, Micrognathia, Hypo... |
ORPHA:363417 |
Macs Syndrome |
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Irregular dentition, Epicanthus, Palpebral edema, Micrognathia, Sparse eyebrow, Gingival overgrow... |
OMIM:613075 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
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Wide mouth, Hydrocephalus, Wide nasal base, Wide nasal bridge |
OMIM:616521 |
Waardenburg Syndrome |
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Abnormal eyebrow morphology, Intestinal obstruction, Telecanthus, Aganglionic megacolon, Aplasia/... |
ORPHA:3440 |
Marshall-Smith Syndrome |
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Irregular dentition, Synophrys, Anteriorly placed anus, Glossoptosis, Short philtrum, High palate... |
OMIM:602535 |
Cleidocranial Dysplasia 2 |
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Delayed eruption of primary teeth, Hypoplasia of the maxilla, Wide anterior fontanel, Supernumera... |
OMIM:620099 |
Filippi Syndrome |
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Wide nose, Prominent nasal bridge, Underdeveloped nasal alae, Wide nasal bridge, Thin vermilion b... |
ORPHA:3255 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
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Medial flaring of the eyebrow, Dental crowding, Intestinal malrotation, Narrow nose, Carious teet... |
OMIM:617602 |
Arthrogryposis, Distal, Type 2A |
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Mandibular prognathia, Pursed lips, Ptosis, Epicanthus, Dental crowding, Telecanthus, Underdevelo... |
OMIM:193700 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
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Epicanthus, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Choanal atresia, Wide ... |
ORPHA:2759 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
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Delayed eruption of teeth, Epicanthus, Micrognathia, High, narrow palate, Submucous cleft hard pa... |
ORPHA:2780 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Anophthalmia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Holoprosencephaly, Mi... |
ORPHA:77298 |
Trichothiodystrophy 4, Nonphotosensitive |
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Epicanthus, Sparse eyelashes, Anteverted nares, Hypoplasia of teeth, Keratoconjunctivitis sicca, ... |
OMIM:234050 |
Mulibrey Nanism |
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Wide nasal bridge |
ORPHA:2576 |
Waardenburg Syndrome, Type 2A |
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White eyelashes, White eyebrow, Underdeveloped nasal alae, Synophrys, Wide nasal bridge, Hypoplas... |
OMIM:193510 |
Microcephaly-Capillary Malformation Syndrome |
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Wide nose, Hypoplasia of the maxilla, Cleft palate, Short nose, Ptosis |
OMIM:614261 |
Craniofrontonasal Dysplasia |
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Abnormality of the dentition, Depressed nasal ridge, Wide nasal bridge, Orofacial cleft, High pal... |
ORPHA:1520 |
Elsahy-Waters Syndrome |
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Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Anteriorly placed anus, High palate,... |
OMIM:211380 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
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Mandibular prognathia, Absent eyebrow, Epicanthus, Sparse eyelashes, Palpebral edema, Prominent n... |
OMIM:137940 |
Coffin-Siris Syndrome 6 |
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Epicanthus, Depressed nasal bridge, Micrognathia, Broad nasal tip, High, narrow palate, Deep phil... |
OMIM:617808 |
Crouzon Syndrome |
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Frontal bossing, Sagittal craniosynostosis, Hydrocephalus, Brachycephaly, Conjunctivitis, Lambdoi... |
OMIM:123500 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Telecanthus, Anteverted nares, Micrognathia, Wide nasal bridge, Cleft palate, Unilateral cleft li... |
OMIM:616897 |
Emanuel Syndrome |
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Delayed eruption of teeth, Broad jaw, Dental crowding, Hooded eyelid, Micrognathia, Submucous cle... |
ORPHA:96170 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Anteverted nares, Micrognathia, Sparse eyebrow, Wide nasal bridge, Narrow mouth, Neonatal death |
OMIM:618810 |
Hemifacial Hyperplasia |
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Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
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Exaggerated cupid's bow, High palate, Wide nasal bridge, Death in childhood |
OMIM:620316 |
9P13 Microdeletion Syndrome |
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Microretrognathia, Epicanthus, Anteverted nares, Highly arched eyebrow, Abnormality of cartilage ... |
ORPHA:324313 |
Bartsocas-Papas Syndrome 1 |
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Micrognathia, Hypoplasia of the maxilla, Cicatricial lagophthalmos, Ankyloblepharon, Pterygium, A... |
OMIM:263650 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
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Anteverted nares, Flared nostrils, Wide nasal bridge, Long philtrum, Ptosis |
OMIM:312170 |
Intellectual Disability-Strabismus Syndrome |
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Epicanthus, Telecanthus, Depressed nasal bridge, Highly arched eyebrow, Micrognathia, Abnormality... |
ORPHA:363528 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Microphthalmia, Coloboma |
OMIM:274270 |
Recombinant 8 Syndrome |
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Anteverted nares, Depressed nasal bridge, Cleft upper lip, Abnormality of the dentition, Microgna... |
ORPHA:96167 |
19P13.13 Microdeletion Syndrome |
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Thin upper lip vermilion, Epicanthus, Anteverted nares, Depressed nasal bridge, Optic nerve hypop... |
ORPHA:357001 |
Hallermann-Streiff Syndrome |
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Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Chorioretinal coloboma,... |
OMIM:234100 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Epicanthus, Tented upper lip vermilion, Anteverted nares, Cleft palate, Furrowed tongue, High pal... |
OMIM:616449 |
Rubinstein-Taybi Syndrome |
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Epicanthus, Telecanthus, Highly arched eyebrow, Micrognathia, Carious teeth, Abnormality of the d... |
ORPHA:783 |
Harel-Yoon Syndrome |
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Mandibular prognathia, Short nose, Upslanted palpebral fissure, Micrognathia |
OMIM:617183 |
2Q31.1 Microdeletion Syndrome |
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Epicanthus, Micrognathia, Deep philtrum, Optic disc coloboma, Synophrys, Bulbous nose, Cleft pala... |
ORPHA:251014 |
Noonan Syndrome 13 |
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Epicanthus, Anteverted nares, Highly arched eyebrow, Micrognathia, Almond-shaped palpebral fissur... |
OMIM:619087 |
Neuhauser Syndrome |
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Epicanthus, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Hypoplasia of the iris, High... |
OMIM:249310 |
Craniometaphyseal Dysplasia |
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Craniofacial hyperostosis, Telecanthus, Depressed nasal bridge, Wide nasal bridge |
ORPHA:1522 |
3Q29 Microdeletion Syndrome |
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Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Patent ductus arteriosus, ... |
ORPHA:65286 |
Acrofacial Dysostosis, Cincinnati Type |
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Ablepharon, Aplastic zygomatic arch, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Pa... |
OMIM:616462 |
Postaxial Acrofacial Dysostosis |
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Micrognathia, Non-midline cleft lip, Ectropion of lower eyelids, Cleft palate, Eyelid coloboma, M... |
ORPHA:246 |
Cardioacrofacial Dysplasia 1 |
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Accessory oral frenulum, Conical tooth, Diastema, Hypoplasia of the maxilla, Short philtrum, Over... |
OMIM:619142 |
Nanophthalmos 1 |
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Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
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Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
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Microphthalmia |
OMIM:609549 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
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Depressed nasal bridge, Downslanted palpebral fissures, Wide nasal bridge, Micrognathia |
ORPHA:2256 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
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Microphthalmia, Abnormality of the dentition |
OMIM:251700 |
Pelvis-Shoulder Dysplasia |
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Hydranencephaly, Hydrocephalus, Spina bifida, Micrognathia |
ORPHA:2839 |
Seckel Syndrome 5 |
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Selective tooth agenesis, Prominent nasal bridge, Micrognathia, Cleft palate, Oligodontia, High p... |
OMIM:613823 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
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Solitary median maxillary central incisor, High palate, Cleft palate, Cleft upper lip |
OMIM:602418 |
Lig4 Syndrome |
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Epicanthus, Telecanthus, Micrognathia, Malabsorption, Wide nasal bridge, Upslanted palpebral fiss... |
ORPHA:99812 |
Moebius Syndrome |
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Epicanthus, Abnormal nasopharynx morphology, Depressed nasal bridge, Micrognathia, Abnormality of... |
OMIM:157900 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
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Brachycephaly, Microcephaly |
OMIM:309541 |
Hyperphosphatasia-Intellectual Disability Syndrome |
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Mandibular prognathia, Epicanthus, Tented upper lip vermilion, Aganglionic megacolon, Prominent n... |
ORPHA:247262 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
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Microphthalmia |
OMIM:616335 |
Greig Cephalopolysyndactyly Syndrome |
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Umbilical hernia, Telecanthus, Wide nasal bridge |
ORPHA:380 |
Barber-Say Syndrome |
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Delayed eruption of teeth, Ablepharon, Telecanthus, Anteverted nares, Bulbous nose, Wide nasal br... |
ORPHA:1231 |
Seizures, Benign Familial Infantile, 3 |
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Cyanosis |
OMIM:607745 |
Poikiloderma With Neutropenia |
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Depressed nasal bridge, Micrognathia, Carious teeth, Sparse eyebrow, Underdeveloped nasal alae, N... |
OMIM:604173 |
Jacobsen Syndrome |
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Epicanthus, Telecanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormal eyelash... |
OMIM:147791 |
Takenouchi-Kosaki Syndrome |
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Thin upper lip vermilion, Highly arched eyebrow, Sparse eyebrow, Synophrys, Bulbous nose, Dental ... |
OMIM:616737 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
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Cerebellar vermis hypoplasia, Craniosynostosis, Simplified gyral pattern, Lissencephaly, Hypoplas... |
ORPHA:284417 |
Van Maldergem Syndrome 1 |
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Irregular dentition, Epicanthus, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxi... |
OMIM:601390 |
Microphthalmia, Isolated, With Cataract 1 |
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Microphthalmia |
OMIM:156850 |
Marden-Walker Syndrome |
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Ptosis, Epicanthus, Anteverted nares, Micrognathia, High, narrow palate, Pyloric stenosis, Wide a... |
OMIM:248700 |
Peroxisome Biogenesis Disorder 2B |
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Epicanthus, Anteverted nares, High, narrow palate, Wide nasal bridge, High palate |
OMIM:202370 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
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Highly arched eyebrow, Aggressive behavior, Microcephaly, Corpus callosum atrophy, Simplified gyr... |
OMIM:619244 |
Donnai-Barrow Syndrome |
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Depressed nasal bridge, Intestinal malrotation, Malar flattening, Broad nasal tip, Wide anterior ... |
OMIM:222448 |
Unilateral Ocular Duplication |
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Encephalocele, Abnormal eyebrow morphology, Median cleft lip, Cleft palate, Blepharophimosis, Iri... |
ORPHA:3374 |
Oculodentodigital Dysplasia |
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Mandibular prognathia, Narrow nasal bridge, Epicanthus, Median cleft lip, Anteverted nares, Abnor... |
ORPHA:2710 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
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Highly arched eyebrow, Microcephaly, Brachycephaly, Upslanted palpebral fissure, Lissencephaly, H... |
OMIM:618142 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Telecanthus, Depressed nasal bridge, Highly arched eyebrow, Wide nasal bridge, High palate, Bleph... |
OMIM:110100 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
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Epicanthus, Depressed nasal bridge, Short nose |
OMIM:616910 |
Sweeney-Cox Syndrome |
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Choanal atresia, Micrognathia, Broad nasal tip, Wide anterior fontanel, Velopharyngeal insufficie... |
OMIM:617746 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
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Thin upper lip vermilion, Epicanthus, High, narrow palate, Bulbous nose, Cleft palate, Anteriorly... |
OMIM:618494 |
Pontocerebellar Hypoplasia, Type 10 |
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Thin upper lip vermilion, Highly arched eyebrow, Underdeveloped nasal alae, Synophrys, Bulbous no... |
OMIM:615803 |
Trisomy 20P |
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Smooth philtrum, Epicanthus, Thick eyebrow, Anteverted nares, Spina bifida, Abnormality of the de... |
ORPHA:261318 |
Walker-Warburg Syndrome |
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Anophthalmia, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Microphthalmia, Bifid uvula |
ORPHA:899 |
Craniolenticulosutural Dysplasia |
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Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Carious teeth, Hypoplasia of the ma... |
ORPHA:50814 |
Chromosome 17P13.1 Deletion Syndrome |
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Epicanthus, Telecanthus, Turricephaly, Diffuse cerebral atrophy, Highly arched eyebrow, Spina bif... |
OMIM:613776 |
Megalocornea-Intellectual Disability Syndrome |
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Epicanthus, Micrognathia, Wide nasal bridge, Hypoplasia of the iris, Everted lower lip vermilion,... |
ORPHA:2479 |
Subaortic Stenosis-Short Stature Syndrome |
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Epicanthus, Anteverted nares, Micrognathia, Microdontia, Microphthalmia |
ORPHA:3191 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
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Choanal atresia, Prominent nasal bridge, Patent ductus arteriosus, Optic disc coloboma, Cleft pal... |
ORPHA:52055 |
Opitz-Kaveggia Syndrome |
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Anal stenosis, Epicanthus, Dental crowding, Intestinal malrotation, Choanal atresia, Cleft upper ... |
OMIM:305450 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
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Cleft lip, Anosmia, Cleft palate, Bifid nose, Hyposmia |
OMIM:614838 |
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome |
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Epicanthus, Abnormality of the dentition, Synophrys, Wide nasal bridge, Abnormal palate morpholog... |
ORPHA:1970 |
Fraser Syndrome 1 |
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Cleft ala nasi, Dental crowding, Anophthalmia, Malformed lacrimal duct, Choanal stenosis, Cryptop... |
OMIM:219000 |
Spondylometaphyseal Dysplasia, X-Linked |
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Depressed nasal bridge, Anteverted nares, Wide nasal bridge |
OMIM:313420 |
Kleefstra Syndrome Due To A Point Mutation |
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Microcephaly, Brachycephaly, Plagiocephaly, Self-injurious behavior, Abnormal cerebral white matt... |
ORPHA:261652 |
Hereditary Methemoglobinemia |
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Cyanosis, Microcephaly, Temporal cortical atrophy, Frontal cortical atrophy, Global brain atrophy... |
ORPHA:621 |
Short-Rib Thoracic Dysplasia 12 |
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Natal tooth, Hydrocephalus, Anencephaly, Holoprosencephaly, Macrocephaly, Neonatal death |
OMIM:269860 |
Atelosteogenesis, Type Iii |
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Frontal bossing, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Prominent occip... |
OMIM:108721 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
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Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Low insertion o... |
OMIM:619995 |
Aicardi Syndrome |
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Prominence of the premaxilla, Anteverted nares, Spina bifida, Hiatus hernia, Cleft upper lip, Opt... |
OMIM:304050 |
Robinow Syndrome, Autosomal Dominant 3 |
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Epicanthus, Telecanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Cleft lip, Paten... |
OMIM:616894 |
Cerebrooculofacioskeletal Syndrome 2 |
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Prominent nose, Micrognathia, Death in childhood, Microphthalmia, Convex nasal ridge |
OMIM:610756 |
Joubert Syndrome 15 |
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Exencephaly |
OMIM:614464 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
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Downturned corners of mouth, Telecanthus, Wide nasal bridge, Micrognathia |
ORPHA:2774 |
Acro-Renal-Mandibular Syndrome |
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Abnormality of the sense of smell, Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:958 |
Cdags Syndrome |
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Ptosis, Frontal bossing, Sparse eyelashes, Sagittal craniosynostosis, Sparse eyebrow, Parietal fo... |
OMIM:603116 |
Weiss-Kruszka Syndrome |
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Epicanthus, Exaggerated cupid's bow, Anteverted nares, Highly arched eyebrow, Horizontal crus of ... |
OMIM:618619 |
Sialuria |
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Thin upper lip vermilion, Epicanthus, Synophrys, Wide nasal bridge, Macroglossia, High palate, Lo... |
OMIM:269921 |
Beemer-Ertbruggen Syndrome |
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Bulbous nose, Deep philtrum, Wide nasal bridge, Micrognathia |
ORPHA:1237 |
Renpenning Syndrome 1 |
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Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Telecanthus, Macrodontia, Micrognath... |
OMIM:309500 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
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Cleft palate, Cleft upper lip |
OMIM:214300 |
Roifman-Chitayat Syndrome |
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Lacrimal duct stenosis, Depressed nasal bridge, Thin lower lip vermilion, Wide nasal bridge, Umbi... |
OMIM:613328 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
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Wide nasal bridge, Ptosis |
ORPHA:2229 |
Seizures, Benign Familial Infantile, 1 |
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Cyanosis |
OMIM:601764 |
Bamforth-Lazarus Syndrome |
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Retrognathia, Choanal atresia, Cleft palate |
ORPHA:1226 |
Juberg-Hayward Syndrome |
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Anteriorly placed anus, Ptosis, Highly arched eyebrow, Cleft upper lip |
OMIM:216100 |
Kapur-Toriello Syndrome |
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Intestinal malrotation, Bulbous nose, Patent ductus arteriosus, Orofacial cleft, Retinal coloboma... |
ORPHA:2328 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
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Natal tooth, Depressed nasal bridge, Micrognathia, Long eyelashes, Volvulus, Short nose |
OMIM:617802 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
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Microcephaly, Brachycephaly, Cerebral cortical atrophy, Thin corpus callosum, Progressive microce... |
OMIM:620240 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Microcephaly 26, Primary, Autosomal Dominant |
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Prominent nasal bridge, Protruding tongue, Prominent eyelashes, Gingival overgrowth, Wide nasal b... |
OMIM:619179 |
Johanson-Blizzard Syndrome |
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Delayed eruption of teeth, Absent lacrimal punctum, Death in infancy, Abnormality of the dentitio... |
ORPHA:2315 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Telecanthus, Crowded maxillary incisors, Hypoplasia of the maxilla, Blepha... |
ORPHA:397973 |
Chromosome 10Q26 Deletion Syndrome |
|
Thin upper lip vermilion, Epicanthus, Micrognathia, Prominent nose, Patent ductus arteriosus, Fla... |
OMIM:609625 |
Coffin-Siris Syndrome 4 |
|
Narrow nasal bridge, Thin upper lip vermilion, Everted upper lip vermilion, Wide nose, Anteverted... |
OMIM:614609 |
Chromosome 18P Deletion Syndrome |
|
Epicanthus, Anteverted nares, Micrognathia, Depressed nasal ridge, Wide nasal bridge, High palate... |
OMIM:146390 |
Distal Deletion 9P |
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Epicanthus, Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, U... |
ORPHA:1642 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Shallow orbits, Short nose, Downslanted palpebral fissures, Micrognathia |
ORPHA:1129 |
Menke-Hennekam Syndrome 1 |
|
Micrognathia, Deep philtrum, Depressed nasal ridge, High palate, Short philtrum, Anteverted nares... |
OMIM:618332 |
Al-Raqad Syndrome |
|
Thin upper lip vermilion, Short nose, Narrow mouth |
OMIM:616459 |
Hamamy Syndrome |
|
Thin upper lip vermilion, Telecanthus, Sparse eyelashes, Anteverted nares, Micrognathia, Sparse e... |
OMIM:611174 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Absent eyebrow, Epicanthus, Telecanthus, Flat occiput, Microcephaly, Brachycephaly, Upslanted pal... |
ORPHA:2707 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Death in early adulthood, Epicanthus, Wide nose, Abnormal dental morph... |
ORPHA:192 |
8P23.1 Microdeletion Syndrome |
|
Epicanthus, Prominent nasal bridge, Micrognathia, Patent ductus arteriosus, Wide nasal bridge, Up... |
ORPHA:251071 |
Metaphyseal Acroscyphodysplasia |
|
Epicanthus, Depressed nasal ridge, Wide nasal bridge, Telecanthus |
ORPHA:1240 |
Ring Chromosome 13 Syndrome |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, Anencephal... |
ORPHA:96176 |
Cousin Syndrome |
|
Frontal bossing, Blepharophimosis, Hydrocephalus, Narrow palpebral fissure, Hydranencephaly, Shor... |
OMIM:260660 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2 |
|
Bilateral cleft lip |
OMIM:616994 |
Marshall Syndrome |
|
Epicanthus, Anteverted nares, Depressed nasal bridge, Malar flattening, Micrognathia, Absent fron... |
OMIM:154780 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Thick lower lip vermilion, Wide nasal bridge, Wide mouth, Open mouth, Thick upper lip vermilion |
OMIM:611087 |
49,Xxxyy Syndrome |
|
Mandibular prognathia, Epicanthus, Micrognathia, Recurrent upper respiratory tract infections, Wi... |
ORPHA:261534 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... |
ORPHA:1507 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Thin upper lip vermilion, Epicanthus, Telecanthus, Depressed nasal bridge, Long nose, Downturned ... |
OMIM:618590 |
Short Stature And Facioauriculothoracic Malformations |
|
High palate, Cleft palate, Cleft upper lip |
OMIM:609654 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral morphology, Brachycephaly, Dysphagia |
ORPHA:70472 |
Familial Benign Copper Deficiency |
|
Deep philtrum, Wide nasal bridge, Aplasia/Hypoplasia of the fovea |
ORPHA:1551 |
Chromosome 1P35 Deletion Syndrome |
|
Thin upper lip vermilion, Micrognathia, Almond-shaped palpebral fissure, Wide nasal bridge, High ... |
OMIM:617930 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Death in infancy, Depressed nasal bridge, Choanal atresia, Hi... |
OMIM:259775 |
Marcus-Gunn Syndrome |
|
Unilateral ptosis, Choanal atresia, Cleft lip, Cleft palate, Abnormality of the sense of smell, C... |
ORPHA:91412 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Epicanthus, Thick lower lip vermilion, Wide nasal bridge, Orofacial cleft, Dow... |
OMIM:123450 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Coloboma, Iris coloboma |
OMIM:610023 |
Diamond-Blackfan Anemia 6 |
|
Micrognathia, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Retrognathia, Bifid uvula |
OMIM:612561 |
Dermotrichic Syndrome |
|
Blepharophimosis, Depressed nasal bridge, Aganglionic megacolon, Short nose |
ORPHA:99688 |
Cohen Syndrome |
|
Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philt... |
OMIM:216550 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Micrognathia... |
OMIM:615546 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Lobulated tongue, High palate, Abnormal dental enamel morphology, Accessory oral fr... |
ORPHA:2750 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bri... |
OMIM:614207 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Prominent nasal bridge, Highly arched eyebrow, Underdeveloped nasal alae, Micrognathia, Short nos... |
ORPHA:2083 |
Orofaciodigital Syndrome Vi |
|
Epicanthus, Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Micrognathia, Broad na... |
OMIM:277170 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Progressive microcephaly |
ORPHA:71277 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Ca... |
OMIM:607812 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Dental crowding, Anteverted nares, Highly arched eyebrow, Micrognathia, Depressed nasal bridge, U... |
OMIM:619005 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth |
OMIM:246560 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Anteverted nares, Depressed nasal bridge, Optic nerve hypoplasia, Micrognathia, Submucous cleft h... |
OMIM:222765 |
Cornelia De Lange Syndrome 1 |
|
Micrognathia, High, narrow palate, Synophrys, Downturned corners of mouth, Widely spaced teeth, H... |
OMIM:122470 |
Rabin-Pappas Syndrome |
|
Mandibular prognathia, Optic nerve hypoplasia, Highly arched eyebrow, Micrognathia, Broad nasal t... |
OMIM:620155 |
Aicardi Syndrome |
|
Intestinal polyposis, Prominence of the premaxilla, Hiatus hernia, Cleft upper lip, Malabsorption... |
ORPHA:50 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Anteverted nares, Carious teeth, Wide anterior fontanel, Narrow mouth, High palate, Long philtrum... |
OMIM:219200 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Flat occiput, Abnormal cortical gyration, Exencephaly, Brachycephaly, Macrogyria, ... |
ORPHA:2211 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Koolen-De Vries Syndrome |
|
Epicanthus, Prominent nasal bridge, Cleft upper lip, Pyloric stenosis, Bulbous nose, Patent ductu... |
OMIM:610443 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormal eyelid morphology, Hypoplasia of the maxilla, Abnormality of the dentition, Patent ductu... |
ORPHA:2095 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Anal stenosis, Epicanthus, Dental crowding, Intestinal malrotation, Paranasal sinus ... |
OMIM:300373 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Telecanthus, Cerebellar vermis hypoplasia, Brachycephaly, Upslanted palpebral fissure, Agenesis o... |
OMIM:620073 |
2P15P16.1 Microdeletion Syndrome |
|
Epicanthus, Telecanthus, Prominent nasal bridge, Optic nerve hypoplasia, Sparse eyebrow, Narrow m... |
ORPHA:261349 |
Renal Agenesis, Bilateral |
|
Epicanthus, Non-midline cleft lip, Depressed nasal ridge, Tracheoesophageal fistula, Cleft palate... |
ORPHA:1848 |
Fraser Syndrome |
|
Encephalocele, Anal stenosis, Cleft ala nasi, Depressed nasal bridge, Dental crowding, Anophthalm... |
ORPHA:2052 |
Martin-Probst Syndrome |
|
Epicanthus, Telecanthus, Micrognathia, Thick lower lip vermilion, Dental malocclusion, Wide nasal... |
OMIM:300519 |
Pyruvate Dehydrogenase Deficiency |
|
Epicanthus, Wide nasal bridge, Upslanted palpebral fissure, High palate, Long philtrum |
ORPHA:765 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia, High palate |
ORPHA:139471 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Highly arched eyebrow, Micrognathia, Prominent n... |
OMIM:156200 |
Laurence-Moon Syndrome |
|
Epicanthus, Brachycephaly |
ORPHA:2377 |
Orofaciodigital Syndrome V |
|
Unilateral ptosis, Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma o... |
OMIM:174300 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Anal stenosis, Rieger anomaly, Hypoplasia of the maxilla, Wide nasal br... |
OMIM:180500 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Iris coloboma |
OMIM:610092 |
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Highly arched eyebrow, Brachycephaly, Upslanted palpebral fissure, Epicanthus inversus, Ptosis |
ORPHA:2988 |
Ritscher-Schinzel Syndrome 4 |
|
Impulsivity, Aggressive behavior, Brachycephaly, Plagiocephaly, Agenesis of corpus callosum, Down... |
OMIM:619435 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Depressed nasal bridge, Anteverted nares, Patent ductus arteriosus, Death in childhood, Short nose |
OMIM:618961 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Median cleft lip, Holoprosencephaly, Cleft palate |
ORPHA:2165 |
Ayme-Gripp Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Mandibular prognathia, Ptosis, Broad eyebrow, Depresse... |
OMIM:601088 |
Non-Distal Deletion 10Q |
|
Epicanthus, Synophrys, Wide nasal bridge, Upslanted palpebral fissure, Ptosis |
ORPHA:1581 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Telecanthus, Anteverted nares, Prominent nasal bridge, Micrognathia, Open bite, Deep philtrum, Wi... |
ORPHA:1974 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu... |
OMIM:615287 |
Teebi-Shaltout Syndrome |
|
Telecanthus, Highly arched eyebrow, Broad nasal tip, Underdeveloped nasal alae, High, narrow pala... |
OMIM:272950 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Wide nose, Prominent nose, Synophrys, Everted lower lip vermilion, Thick vermilion border, Retrog... |
OMIM:300280 |
Meckel Syndrome |
|
Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the tongue, Hydrocephalus, Depressed nasal rid... |
ORPHA:564 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Osteogenesis Imperfecta, Type Xviii |
|
Micrognathia, Abnormality of the dentition, Wide nasal bridge, Long eyelashes, Umbilical hernia |
OMIM:617952 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Telecanthus, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveola... |
ORPHA:2751 |
Joubert Syndrome 3 |
|
Epicanthus, Anteverted nares, Highly arched eyebrow, Wide nasal bridge, Open mouth, Ptosis |
OMIM:608629 |
Hartsfield Syndrome |
|
Wide nose, Craniosynostosis, Alobar holoprosencephaly, Microcephaly, Lobar holoprosencephaly, Age... |
OMIM:615465 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Micrognathia, Wide nasal bridge, Anteriorly placed anus, Upslanted palpebral fissure, Blepharophi... |
ORPHA:1352 |
Barber-Say Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,... |
OMIM:209885 |
Duane Retraction Syndrome |
|
Anteverted nares, Optic disc hypoplasia, Micrognathia, Blepharophimosis, Wide nasal bridge, Cleft... |
ORPHA:233 |
Autosomal Dominant Robinow Syndrome |
|
Micrognathia, High, narrow palate, Abnormality of the gingiva, Downturned corners of mouth, Oligo... |
ORPHA:3107 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Non-midline cleft lip, Cleft palate, Orofacial cleft, Wide mouth, Ectopic anus, Short mandibular ... |
ORPHA:2549 |
Nance-Horan Syndrome |
|
Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Supernumerary maxillary incisor... |
OMIM:302350 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Upslanted palpebral fissure, Short nose |
ORPHA:496790 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Epicanthus, Telecanthus, Sparse eyelashes, Sparse eyebrow, Wide nasal bridge, Abnormality of prim... |
ORPHA:75496 |
C Syndrome |
|
Epicanthus, Anteverted nares, Accessory oral frenulum, Micrognathia, Patent ductus arteriosus, Wi... |
OMIM:211750 |
Steinfeld Syndrome |
|
Bifid uvula, Retinal coloboma, Aplasia of the nose, Microphthalmia, Iris coloboma, Median cleft l... |
OMIM:184705 |
Prolidase Deficiency |
|
Depressed nasal bridge, Micrognathia, Concave nasal ridge, High palate, Short nose, Ptosis |
OMIM:170100 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Prominent nose, Micrognathia, High palate, Chorioretinal coloboma, Hyperplasia of the maxilla |
OMIM:620194 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Micrognathia, Orofacial cleft, Narr... |
ORPHA:3301 |
Cenani-Lenz Syndrome |
|
Ectropion, Abnormal dental enamel morphology, High, narrow palate, Short philtrum, Hypodontia, Ma... |
ORPHA:3258 |
Tetrasomy 5P |
|
Epicanthus, Anteverted nares, Micrognathia, Wide anterior fontanel, Wide nasal bridge, Upslanted ... |
ORPHA:3309 |
Microcephaly-Micromelia Syndrome |
|
Wide nose, Micrognathia, Cleft palate, Narrow mouth, Neonatal death, Microphthalmia, Convex nasal... |
OMIM:251230 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Death in infancy, Micrognathia, Alveolar ridge overgrowth, Cleft palate... |
OMIM:235255 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Hypoplasia... |
OMIM:616546 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Convex nasal ridge, Micrognathia, Thin vermilio... |
OMIM:241410 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Broad eyebrow, Anteverted nares, Hypoplasia of the maxilla, Bulbous nose, Upslanted palpebral fis... |
ORPHA:481152 |
Pallister-Hall Syndrome |
|
Natal tooth, Anteverted nares, Depressed nasal bridge, Choanal atresia, Cleft upper lip, Patent d... |
OMIM:146510 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Epicanthus, Prominent nose, Wide nasal bridge, Wide mouth, Long philtrum, Umbilical hernia, Malar... |
ORPHA:1292 |
Autosomal Recessive Amelia |
|
Non-midline cleft lip, Orofacial cleft, Micrognathia |
ORPHA:1027 |
Cantú Syndrome |
|
Epicanthus, Anteverted nares, Curly eyelashes, Patent ductus arteriosus, Wide nasal bridge, Wide ... |
ORPHA:1517 |
Short Syndrome |
|
Telecanthus, Abnormal dental enamel morphology, Abnormality of the dentition, Abnormal zygomatic ... |
ORPHA:3163 |
Monosomy 9P |
|
Epicanthus, Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Abnormality of the d... |
ORPHA:261112 |
Ritscher-Schinzel Syndrome 1 |
|
Hydrocephalus, Brachycephaly, Prominent occiput, Downslanted palpebral fissures, Dandy-Walker mal... |
OMIM:220210 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cerebral white matter atrophy, Impulsivity, Aggressive behavior, Microcephaly, Hydrocephalus, Bra... |
ORPHA:500055 |
Pontocerebellar Hypoplasia, Type 7 |
|
Epicanthus, Micrognathia, Broad nasal tip, Deep philtrum, Synophrys, Wide nasal bridge, High pala... |
OMIM:614969 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Frontal bossing, Anteverted nares, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Wid... |
OMIM:182212 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te... |
ORPHA:37553 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, High palate, Short nose |
ORPHA:329178 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Micrognathia, Downturned corners of mouth, Choanal stenosis, Iris coloboma, Bifid... |
OMIM:620186 |
Ruvalcaba Syndrome |
|
Dental crowding, Thin vermilion border, Narrow mouth, Short nose, Downslanted palpebral fissures,... |
ORPHA:3121 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Diffuse cerebral atrophy, Cyanosis, Microcephaly, Cerebral atrophy, Abnormal basal ... |
ORPHA:391428 |
Zimmermann-Laband Syndrome |
|
Telecanthus, Wide nose, Micrognathia, Supernumerary tooth, Bulbous nose, Gingival fibromatosis, C... |
ORPHA:3473 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Narrow palpebral fissure, Short nose, Upslanted palpebral fissure |
OMIM:618087 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Mandibular prognathia, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prom... |
OMIM:300912 |
Trisomy 17P |
|
Broad eyebrow, Wide nose, Micrognathia, Prominent nose, Patent ductus arteriosus, Orofacial cleft... |
ORPHA:261290 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Flat occiput, Highly arched eyebrow, Microcephaly, Brachycephaly, Aplasia/Hypoplasia of the corpu... |
ORPHA:505237 |
Al-Gazali-Bakalinova Syndrome |
|
Malar flattening, Triangular mouth, Depressed nasal bridge, Wide nasal bridge |
OMIM:607131 |
Glass Syndrome |
|
Dental crowding, Anteverted nares, Prominent nasal bridge, Conical tooth, Micrognathia, Long nose... |
OMIM:612313 |
Cockayne Syndrome Type 2 |
|
Anophthalmia, Delayed eruption of primary teeth, Widely spaced primary teeth, Hypoplasia of the p... |
ORPHA:90322 |
Fountain Syndrome |
|
Craniofacial hyperostosis, Epicanthus, Cutis marmorata, Spina bifida, Synophrys, Erythema, Spina ... |
ORPHA:3219 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Laterally extended eyebrow, Tented upper lip vermilion, Highly arched e... |
OMIM:600987 |
Warburg Micro Syndrome 3 |
|
Micrognathia, Narrow palate, Downturned corners of mouth, Blepharophimosis, Microphthalmia, Short... |
OMIM:614222 |
Sheldon-Hall Syndrome |
|
High palate, Wide nasal bridge, Micrognathia |
ORPHA:1147 |
Sialuria |
|
Thin upper lip vermilion, Epicanthus, High, narrow palate, Wide nasal bridge, Smooth philtrum |
ORPHA:3166 |
Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, High palate, Shallow orbits, Bifid uvula, Lagophthalmos... |
OMIM:616580 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Prominent nasal bridge, Hypoplasia of the maxilla, Cleft palate, High palate, ... |
ORPHA:1307 |
Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
Beck-Fahrner Syndrome |
|
Lacrimal duct stenosis, Microcephaly, Brachycephaly, Attention deficit hyperactivity disorder, Pe... |
OMIM:618798 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Anal stenosis, Epicanthus, Sinusitis, Choanal atresia, Cleft upper l... |
OMIM:251260 |
Congenital Myopathy 22A, Classic |
|
Dental crowding, Micrognathia, Bilateral ptosis, Synophrys, Wide nasal bridge, High palate, Neona... |
OMIM:620351 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Entropion, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae... |
OMIM:616835 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Aqueductal stenosis, Hypoplasia of the pons, Synophrys, Partial agenesis of the corpus callosum, ... |
OMIM:619512 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Malar flattening, Short nose |
OMIM:614613 |
Craniofrontonasal Syndrome |
|
Telecanthus, Abnormality of the dentition, Cleft upper lip, Bifid nasal tip, Wide nasal bridge, C... |
OMIM:304110 |
Lathosterolosis |
|
Epicanthus, Anteverted nares, Micrognathia, Bulbous nose, Meningocele, Gingival overgrowth, Downt... |
ORPHA:46059 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Dental crowding, Persistence of primary teeth, Micrognathia, Hypoplasia... |
OMIM:170390 |
Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Epicanthus, Telecanthus, Anteverted nares, Intestinal malrotation, Depr... |
OMIM:244450 |
Adams-Oliver Syndrome 2 |
|
Depressed nasal bridge, Micrognathia, Bulbous nose, Narrow palpebral fissure, Microphthalmia |
OMIM:614219 |
Distal Deletion 10Q |
|
Thin upper lip vermilion, Epicanthus, Prominent nasal bridge, Micrognathia, Prominent nose, Paten... |
ORPHA:96148 |
Joubert Syndrome 28 |
|
Wide nasal bridge, Highly arched eyebrow |
OMIM:617121 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Everted upper lip vermilion, Sparse eyelashes, Abnormal oral mucosa morphology, D... |
OMIM:305100 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Aminoacylase 1 Deficiency |
|
Wide nasal bridge |
OMIM:609924 |
Vici Syndrome |
|
Everted upper lip vermilion, Median cleft lip, Epicanthus, Depressed nasal bridge, Wide nose, Cle... |
OMIM:242840 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Epicanthus, Micrognathia, Deep philtrum, Bulbous nose, Everted lower li... |
OMIM:613884 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Micrognathia, Carious teeth, Blepha... |
OMIM:616734 |
Zellweger Syndrome |
|
Death in infancy, Epicanthus, Depressed nasal bridge, Micrognathia, Malabsorption, Pyloric stenos... |
ORPHA:912 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Epicanthus, Wide nasal bridge, Wide nasal base, Sparse lateral eyebrow, Low hanging columella |
OMIM:617788 |
Meckel Syndrome 12 |
|
Anteverted nares, Micrognathia, Antecubital pterygium, Wide nasal bridge, Bifid uvula |
OMIM:616258 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Depressed nasal bridge, Micrognathia, Wide nasal bridge, Wide mouth, Thin vermilion border, Short... |
ORPHA:2062 |
Fibrochondrogenesis 2 |
|
Malar flattening, Short nose, Anteverted nares, Micrognathia |
OMIM:614524 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Curly eyelashes, Micrognathia, Prominent nose, ... |
OMIM:301022 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Epicanthus, Depressed nasal bridge, Patent ductus arteriosus, Wide nasal bridge, High palate, Umb... |
OMIM:104350 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Prominent nose, Supernumerary tooth, Synophrys, Underdeveloped nasal... |
ORPHA:90024 |
Ablepharon Macrostomia Syndrome |
|
Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, H... |
ORPHA:920 |
Specc1L-Related Hypertelorism Syndrome |
|
Prominent nasal bridge, Highly arched eyebrow, Patent ductus arteriosus, Wide nasal bridge, Orofa... |
ORPHA:1519 |
Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Epicanthus, Anteverted nares, Highly arched eyebrow, Micrognathia, Prot... |
OMIM:617062 |
Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Trigonocep... |
OMIM:604757 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Anteriorly placed anus, Downturned c... |
ORPHA:1299 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Telecanthus, Gastritis, Wide nasal bridge, Micrognathia |
ORPHA:2575 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Anteverted nares, Depressed nasal bridge, Curly eyelashes, Thick lower lip vermilion, Wide nasal ... |
OMIM:611717 |
Holoprosencephaly 11 |
|
Cleft lip, Holoprosencephaly, Cleft palate |
OMIM:614226 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Long eyebrows, Microcephaly, Simplified gyral pattern, Abnormal cerebral white matter morphology,... |
OMIM:614407 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Epicanthus, Dental crowding, Abnormality of the dentition, Micrognathia, Synophrys, Congenital pt... |
ORPHA:476126 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Aplasia of the nasal bone, Prominent nasal bridge, Micrognathia, Hypop... |
OMIM:601812 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis |
ORPHA:91130 |
Tolchin-Le Caignec Syndrome |
|
Thick eyebrow, Hooded eyelid, Micrognathia, Prominent nose, Submucous cleft hard palate, Nasolacr... |
OMIM:618971 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Wide anterior fontanel, Wide nasal bridge |
OMIM:614859 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Telecanthus, Dental crowding, Highly arched eyebrow, Cleft upper lip... |
OMIM:257920 |
Gapo Syndrome |
|
Epicanthus, Sparse eyelashes, Anteverted nares, Depressed nasal bridge, Micrognathia, Sparse eyeb... |
OMIM:230740 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Epicanthus, Anteverted nares, Micrognathia, ... |
OMIM:247200 |
Desmosterolosis |
|
Epicanthus, Hypoplastic nasal bridge, Anteverted nares, Micrognathia, Patent ductus arteriosus, G... |
OMIM:602398 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Miscarriage, Micrognathia, Wide nasal bridge, Cleft palate, Narrow mouth, Pterygium |
ORPHA:1865 |
Peho Syndrome |
|
Epicanthus, Palpebral edema, Anteverted nares, Short nose, Gingival overgrowth, Abnormal upper li... |
ORPHA:2836 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Thick eyebrow, Prominent nasal bridge, Micrognat... |
OMIM:300534 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Thick vermilion border, Malar fla... |
OMIM:616723 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Wide nasal bridge |
OMIM:610127 |
Fryns Syndrome |
|
Microretrognathia, Tented upper lip vermilion, Aganglionic megacolon, Intestinal malrotation, Ant... |
OMIM:229850 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Epicanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Anteverte... |
ORPHA:464738 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Lacrimal duct stenosis, Carious teeth, Periorbital dermoid cyst, Dental malocc... |
OMIM:615560 |
Kagami-Ogata Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Patent ductus ... |
OMIM:608149 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Micrognathia, Synophrys, Epicanthus inversus, Microdontia, Bifid uvul... |
OMIM:613458 |
Marshall-Smith Syndrome |
|
Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrowth, Open mouth, Retrognath... |
ORPHA:561 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Anteverted nares, Protruding tongue, Patent ductus arteriosus, Alveolar ridge overgrowth, Cleft p... |
OMIM:612938 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Wide nasal bridge, Ankyloblepha... |
OMIM:612651 |
Kosaki Overgrowth Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Wide nasal bridge, Xanthelasma, Downslanted pal... |
OMIM:616592 |
Acrocardiofacial Syndrome |
|
Death in infancy, Cleft upper lip, Wide nasal bridge, Cleft palate, Long eyelashes, Anal atresia |
ORPHA:2008 |
Rothmund-Thomson Syndrome, Type 2 |
|
Delayed eruption of teeth, Mandibular prognathia, Absent eyebrow, Epicanthus, Sparse eyelashes, D... |
OMIM:268400 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Upslanted palpebral fissure, Frontal bossing, Plagiocephaly, Brachycephaly |
OMIM:616789 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... |
ORPHA:101030 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Coloboma |
ORPHA:141333 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Microcephaly, Myelomeningocele, Facial telangiec... |
OMIM:620141 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Entropion, Abnormal dental enamel morphology, Trichiasis, Cleft upper lip, Cleft ... |
OMIM:601701 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Patent ductus arteriosus, Wide nasal bridge, Buphthalmos, High palate, Short nose, Retrognathia |
OMIM:618005 |
Desmosterolosis |
|
Epicanthus, Depressed nasal bridge, Intestinal malrotation, Micrognathia, Abnormality of the nose... |
ORPHA:35107 |
Waardenburg Syndrome Type 3 |
|
Telecanthus, Microcephaly, Blepharophimosis, Acrocyanosis, Downslanted palpebral fissures, Thick ... |
ORPHA:896 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Frontal bossing, Microcephaly, Brachycephaly, Plagiocephaly, Dolichocephaly, Midface retrusion |
OMIM:619721 |
Tarp Syndrome |
|
Anteverted nares, Micrognathia, Wide nasal bridge, Cleft palate, Tongue nodules, Glossoptosis, Hi... |
OMIM:311900 |
Tetraploidy |
|
Micrognathia, Cleft palate, Short philtrum, Aplasia/Hypoplasia affecting the eye, Convex nasal ridge |
ORPHA:3305 |
Zimmermann-Laband Syndrome 1 |
|
Delayed eruption of teeth, Mandibular prognathia, Highly arched eyebrow, Broad nasal tip, Synophr... |
OMIM:135500 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Coloboma, Depressed nasal bridge |
OMIM:612379 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Furrowed tongue, Downturned corners o... |
ORPHA:453499 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, D... |
ORPHA:2753 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Lymphoid nodular hyperplasia, Short nose, Depressed nasal bridge |
ORPHA:210548 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Epicanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Patent ductus ... |
OMIM:614080 |
Stickler Syndrome |
|
Epicanthus, Telecanthus, Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bri... |
ORPHA:828 |
Mycophenolate Mofetil Embryopathy |
|
Micrognathia, Tracheoesophageal fistula, Orofacial cleft, Eyelid coloboma, Bifid nose, Chorioreti... |
ORPHA:268249 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Short nasal septum, Anosmia, Depressed nasal bridge, Short nose |
OMIM:302950 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Wide nose, Anteverted nares, Depressed nasal bridge, Deep philtrum, Death in ch... |
OMIM:613320 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Cleft palate |
ORPHA:66637 |
Orofaciodigital Syndrome X |
|
Telecanthus, Retrognathia, Depressed nasal bridge, Cleft palate |
OMIM:165590 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Esophageal atresia, Tracheoesophageal ... |
OMIM:619859 |
Lymphedema-Distichiasis Syndrome |
|
Ectropion, Micrognathia, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Conjunctivitis,... |
OMIM:153400 |
1Q21.1 Microdeletion Syndrome |
|
Epicanthus, Bulbous nose, Patent ductus arteriosus, Wide nasal bridge, High palate, Long philtrum... |
ORPHA:250989 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Otopalatodigital Syndrome, Type I |
|
Selective tooth agenesis, Absent frontal sinuses, Wide nasal bridge, Cleft palate, Multiple impac... |
OMIM:311300 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Micrognathia, Cleft palate, Cleft upper lip |
OMIM:601076 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Cleft soft palate, Highly arched eyebrow, Micrognathia, Patent ductus arteriosu... |
ORPHA:2282 |
Vacterl/Vater Association |
|
Occipital encephalocele, Anencephaly |
ORPHA:887 |
Neu-Laxova Syndrome 1 |
|
Wide nose, Spina bifida, Micrognathia, Depressed nasal ridge, Stillbirth, Lissencephaly, Short um... |
OMIM:256520 |
Martsolf Syndrome 1 |
|
Epicanthus, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Broad nasal tip, Hig... |
OMIM:212720 |
Acitretin/Etretinate Embryopathy |
|
Epicanthus, Aplasia/Hypoplasia of the maxilla, Anteverted nares, Micrognathia, Antecubital pteryg... |
ORPHA:40366 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Wide nasal bridge, Long philtrum |
ORPHA:2158 |
Faciocardiorenal Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Hypodontia, Narrow mouth, Smooth phil... |
ORPHA:1973 |
Phelan-Mcdermid Syndrome |
|
Epicanthus, Palpebral edema, Micrognathia, Bulbous nose, Patent ductus arteriosus, Dental maloccl... |
OMIM:606232 |
Pseudodiastrophic Dysplasia |
|
Frontal bossing, Brachycephaly, Midface retrusion |
OMIM:264180 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Pierre-Robin sequence, Wide nasal bridg... |
OMIM:611209 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Thin upper lip vermilion, Anteverted nares, Upslanted palpebral fissure, Narrow mouth, Short nose |
OMIM:613735 |
Mosaic Trisomy 1 |
|
Microretrognathia, Depressed nasal bridge, Thick lower lip vermilion, Wide nasal bridge, Cleft pa... |
ORPHA:1692 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Cleft upper lip, Hydrocephalus, Cleft palate, Buphthalmos, Macroglossia, Microphth... |
OMIM:613150 |
Carpenter Syndrome 1 |
|
Preauricular pit, Depressed nasal bridge, Sagittal craniosynostosis, Persistence of primary teeth... |
OMIM:201000 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Wide nose, Wide nasal bridge |
ORPHA:89844 |
Cataract 9, Multiple Types |
|
Microphthalmia, Iris coloboma |
OMIM:604219 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Cerebellar vermis hypoplasia, Aggressive behavior, Brachycephaly, Hypoplasia of the corpus callos... |
ORPHA:364028 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Prominent nasal bridge, Patent ductus arteriosus, Bulbous nose, Short nose |
OMIM:613870 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Epicanthus, Anteverted nares, Depressed nasal bridge, Protruding tongue, D... |
OMIM:301040 |
Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Anencephaly |
ORPHA:1335 |
Bardet-Biedl Syndrome 8 |
|
Brachycephaly |
OMIM:615985 |
Prader-Willi Syndrome Due To Translocation |
|
Micrognathia, Prominent nose, Downturned corners of mouth, High palate, Bifid uvula, Anteverted n... |
ORPHA:177907 |
Enlarged Parietal Foramina |
|
Cleft lip, Occipital encephalocele, Myelomeningocele, Cleft palate |
ORPHA:60015 |
Boomerang Dysplasia |
|
Neonatal death, Hypoplastic nasal septum, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:112310 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Rieger anomaly, Tented upper lip vermilion, Wide nasal bridge, Buphthalmos... |
ORPHA:521445 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Prominent nasal bridge, Micrognathia, Bilateral microphthalmos, Short philtrum, Death in childhoo... |
OMIM:610758 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
Kury-Isidor Syndrome |
|
Frontal bossing, Brachycephaly, Attention deficit hyperactivity disorder, Downslanted palpebral f... |
OMIM:619762 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cleft upper lip, Upslanted palpebral fissure, Microphthalmia, Cyclopia, Anal atres... |
OMIM:264480 |
Meckel Syndrome, Type 1 |
|
Natal tooth, Occipital encephalocele, Micrognathia, Microcephaly, Large placenta, Hydrocephalus, ... |
OMIM:249000 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Epicanthus, Orofacial cleft, Narro... |
ORPHA:77301 |
Scarf Syndrome |
|
Epicanthus, Prominent nasal bridge, Wide nasal bridge, Long philtrum, Umbilical hernia, Enamel hy... |
OMIM:312830 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Cloverleaf skull, Depressed na... |
ORPHA:87 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Tracheoesopha... |
ORPHA:3412 |
Acropectorovertebral Dysplasia |
|
High, narrow palate, Spina bifida, Cleft palate |
ORPHA:957 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Highly arched eyebrow, Sparse eyebrow, Syno... |
ORPHA:487796 |
Recombinant Chromosome 8 Syndrome |
|
Secondary microcephaly, Brachycephaly, Cerebral atrophy, Midface retrusion |
OMIM:179613 |
Lig4 Syndrome |
|
Epicanthus, Microcephaly, Brachycephaly, Telangiectasia, Upslanted palpebral fissure, Cutaneous p... |
OMIM:606593 |
Schneckenbecken Dysplasia |
|
Cleft palate, Stillbirth, Umbilical hernia, Short nose, Malar flattening |
OMIM:269250 |
Acrofrontofacionasal Dysostosis 2 |
|
Microcephaly, Downslanted palpebral fissures, Brachycephaly, Ptosis |
OMIM:239710 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia, Patent ductus arteriosus |
OMIM:615297 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's... |
ORPHA:261494 |
8P Inverted Duplication/Deletion Syndrome |
|
Anteverted nares, Micrognathia, High, narrow palate, Synophrys, Abnormality of dental eruption, W... |
ORPHA:96092 |
Arthrogryposis, Distal, With Impaired Proprioception And Touch |
|
Long nose, Thin upper lip vermilion, High palate, Wide nasal bridge |
OMIM:617146 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Wide nose, Protruding tongue, Micrognathia, Upslanted palpebral fissure, Thick ... |
OMIM:608779 |
Adenylosuccinase Deficiency |
|
Hyperactivity, Aggressive behavior, Microcephaly, Brachycephaly, Cerebral atrophy, Inappropriate ... |
OMIM:103050 |
Kleefstra Syndrome 1 |
|
Aggressive behavior, Microcephaly, Synophrys, Brachycephaly, Upslanted palpebral fissure, Compuls... |
OMIM:610253 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of... |
OMIM:129900 |
19P13.12 Microdeletion Syndrome |
|
Hyperactivity, Epicanthus, Craniosynostosis, Aplasia/Hypoplasia of the cerebellar vermis, Microce... |
ORPHA:254346 |
7Q31 Microdeletion Syndrome |
|
Epicanthus, Telecanthus, Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Patent duct... |
ORPHA:251061 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly, Cleft palate, Cleft upper lip |
OMIM:313850 |
Rhombencephalosynapsis |
|
Microretrognathia, Septo-optic dysplasia, Aganglionic megacolon, Anteverted nares, Esophageal atr... |
ORPHA:59315 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Choanal atresia, Carious teeth, Absent eyelashes, Bulbous nose, Anosmia, Cleft pa... |
ORPHA:2316 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Flat occiput, Brachycephaly, Cerebral atrophy, Horizontal eyebrow, Hypoplasia of the corpus callo... |
OMIM:618797 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Broad eyebrow, Epicanthus, Anteverted nares, Choanal atresia, Micrognathia, Cleft lip, Bulbous no... |
OMIM:616975 |
Jung Syndrome |
|
Telecanthus, Depressed nasal bridge, Wide nasal bridge |
ORPHA:2321 |
Noonan Syndrome 6 |
|
Epicanthus, Depressed nasal bridge, Long eyebrows, Bilateral ptosis, Wide nasal bridge, Downslant... |
OMIM:613224 |
Lathosterolosis |
|
Epicanthus, Anteverted nares, Micrognathia, Myelomeningocele, Gingival overgrowth, Wide nasal bri... |
OMIM:607330 |
Piebaldism |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Synophrys, Wide nasal bridge, Long philtrum |
ORPHA:2884 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Depressed nasal bridge, Narrow mouth, Cleft palate, Long eyelashes, Sha... |
OMIM:601353 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Median cleft lip, Orofacial cleft, Aplasia of the nose, Microphthalmia, Cyclopia, Iris coloboma |
ORPHA:3186 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Thin upper lip vermilion, Wide nasal bridge, Recurrent aphthous stomatitis, Long philtrum |
OMIM:615966 |
Wolf-Hirschhorn Syndrome |
|
Epicanthus, Abnormality of the philtrum, Highly arched eyebrow, Cleft upper lip, Micrognathia, Wi... |
ORPHA:280 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Coloboma, Shallo... |
ORPHA:453504 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Smooth philtrum, Depressed nasal bridge, Choanal atresia, Abnormality of the dentition, Prominent... |
OMIM:300968 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Coloboma, Shallo... |
ORPHA:352665 |
Short Syndrome |
|
Delayed eruption of teeth, Telecanthus, Rieger anomaly, Micrognathia, Underdeveloped nasal alae, ... |
OMIM:269880 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Optic disc hypoplasia, Wide nasal bridge, Depr... |
OMIM:619306 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of ... |
OMIM:619950 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Anteverted nares, Highly arched eyebrow, Micrognathia, Lagophthalmos, Bulbous nos... |
OMIM:615065 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Dental crowding, Narrow nasal ridge, Micrognathia, Hypoplasia of teeth,... |
OMIM:608612 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Wide nasal bridge, Anal atresia |
OMIM:309620 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hooded eyelid, Micrognathia, Synophrys, Downturned corners of mouth, High palate, Microdontia, La... |
OMIM:610759 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Cleft soft palate, Lacrimal duct stenosis, Micrognathia, Choanal atresia,... |
OMIM:154500 |
Spastic Paraplegia 51, Autosomal Recessive |
|
Long nose, Bulbous nose, Wide nasal bridge, Wide mouth, Short philtrum, Downslanted palpebral fis... |
OMIM:613744 |
Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Downslanted palpebral fissures, Wide nasal bridge |
OMIM:175700 |
Hydrolethalus Syndrome 1 |
|
Absent septum pellucidum, Abnormal cortical gyration, Micrognathia, Anencephaly, Stillbirth, Bifi... |
OMIM:236680 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis... |
OMIM:604292 |
Nicolaides-Baraitser Syndrome |
|
Short lingual frenulum, High, narrow palate, Widely spaced teeth, Sparse medial eyebrow, Absent e... |
OMIM:601358 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Short philtrum, Widely spaced teeth, Chorioretinal coloboma, Depressed nasal bridge, Highly arche... |
OMIM:280000 |
Congenital Disorder Of Glycosylation, Type Il |
|
Wide mouth, Short nose, Depressed nasal bridge, Long philtrum |
OMIM:608776 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Epicanthus, Anteverted nares, Depressed nasal bridge, Abnormality of the dentitio... |
OMIM:115150 |
Macrocephaly/Autism Syndrome |
|
Epicanthus, Depressed nasal bridge, High palate, Long philtrum, Short nose |
OMIM:605309 |
Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Sparse lower eyelashes, Prominent nasal bridge, Cleft upper lip, Micrognat... |
OMIM:154400 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Epicanthus, Lacrimal duct stenosis, Intestinal malro... |
ORPHA:457193 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Epicanthus, Depressed nasal bridge, Rectal prolapse, Gingival overgrow... |
OMIM:235510 |
Congenital Myopathy 22B, Severe Fetal |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Synophrys, Wide nasal bridge, High pal... |
OMIM:620369 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Epicanthus, Brachycephaly, Telecanthus, Microcephaly |
OMIM:263210 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Epicanthus, Depressed nasal bridge, Micrognathia, Narrow mouth, Patent ductus arteriosus, Wide na... |
OMIM:613457 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Abnormal dental morphology, Anteverted nares, Abnormality of the dentition, Hypoplasia... |
ORPHA:238468 |
Charge Syndrome |
|
Delayed eruption of teeth, Epicanthus, Anophthalmia, Depressed nasal bridge, Choanal atresia, Hig... |
ORPHA:138 |
Monosomy 13Q14 |
|
Epicanthus, Prominent nasal bridge, Micrognathia, Wide nasal bridge, Microphthalmia, Iris colobom... |
ORPHA:1587 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Bifid nasal tip, Bifid nose, Median cleft lip and palate |
ORPHA:2213 |
Trisomy 10P |
|
Epicanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormality of the nose, Orof... |
ORPHA:171929 |
Maternal Phenylketonuria |
|
Epicanthus, Anteverted nares, Micrognathia, Esophageal atresia, Bilateral ptosis, Wide nasal brid... |
ORPHA:2209 |
Ohdo Syndrome, Sbbys Variant |
|
Thin upper lip vermilion, Depressed nasal bridge, Blepharophimosis, Micrognathia, Bulbous nose, C... |
OMIM:603736 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Microphthalmia, Downslanted palpebral fissur... |
OMIM:614526 |
Congenital Myopathy 13 |
|
Telecanthus, Hypercapnia, Microcephaly, Brachycephaly, Hypoxemia, Blepharophimosis, Downslanted p... |
OMIM:255995 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Anteverted nares, Depressed nasal bridge, Abnormality of the dentition, Deep philtrum, Patent duc... |
OMIM:615398 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Anteverted nares, Depressed nasal brid... |
OMIM:268310 |
Cerebrofacioarticular Syndrome |
|
Irregular dentition, Anal stenosis, Epicanthus, Micrognathia, Hypoplasia of the maxilla, Bilatera... |
ORPHA:314679 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Malar prominence, Microphthalmia, Long eyelashes, Micrognathia |
ORPHA:48431 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Epicanthus, Prominent nasal bridge, Malabsorption, Micrognathia, Cleft palat... |
ORPHA:1225 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Depressed nasal bridge, Micrognathia, Bulbous nose, Narrow palpebra... |
OMIM:614437 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... |
OMIM:601216 |
1Q41Q42 Microdeletion Syndrome |
|
Depressed nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Submucous cleft hard palate, ... |
ORPHA:250999 |
49,Xxxxy Syndrome |
|
Epicanthus, Brachycephaly, Upslanted palpebral fissure, Holoprosencephaly, Attention deficit hype... |
ORPHA:96264 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Thin upper lip vermilion, Hyperplasia of the maxilla |
OMIM:618587 |
Feingold Syndrome 1 |
|
Epicanthus, Jejunal atresia, Anteverted nares, Micrognathia, Esophageal atresia, Patent ductus ar... |
OMIM:164280 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Depressed nasal bridge, Micrognathia, Myelomeningocele, Pierre-Robin sequence, Hyp... |
ORPHA:90652 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Cleft upper lip, Micrognathia, Meningoencephaloc... |
OMIM:236670 |
Warburg Micro Syndrome 4 |
|
Anteverted nares, Prominent nasal bridge, Narrow mouth, Long philtrum, Microphthalmia, Ptosis |
OMIM:615663 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Long philtrum, Short nose, Smooth ph... |
OMIM:616430 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Hyperplasia of the maxilla |
OMIM:618383 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Depressed nasal bridge, Prominent nasal bridge, Abnormal eyelid morphology, Promin... |
ORPHA:647 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Micrognathia, Underdeveloped nasal alae, Narrow mo... |
OMIM:616007 |
Dystonia-Deafness Syndrome 1 |
|
Cleft palate, Cleft upper lip |
OMIM:607371 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Epicanthus, Depressed nasal bridge, Micrognathia, Bulbous nose, Narrow mouth, Blepharophimosis, S... |
OMIM:614114 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Wide nose, Prominent nasal bridge, Convex nasal ridge, Prominent nose, Malar flattening, Dental m... |
OMIM:601552 |
Gaucher Disease, Perinatal Lethal |
|
Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Everted lowe... |
OMIM:608013 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Cyanosis, Aggressive behavior, Dysplas... |
ORPHA:488627 |
Pycnodysostosis |
|
Obtuse angle of mandible, Frontal bossing, Delayed eruption of primary teeth, Persistence of prim... |
ORPHA:763 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Flat occiput, Absent septum pellucidum, Highly arched eyebrow, Microcephaly, Synophrys, Brachycep... |
ORPHA:96147 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Microcephaly, Brachycephaly, Dysphagia, Ptosis |
OMIM:301041 |
Retinitis Pigmentosa |
|
Anteverted nares, Wide nasal bridge |
ORPHA:791 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Micrognathia, Iris coloboma, Depressed nasal bridge, Cleft upper lip, Malrotation o... |
OMIM:113620 |
Choanal Atresia |
|
Cyanosis, Craniosynostosis, Choking episodes |
ORPHA:137914 |
Grant Syndrome |
|
Frontal bossing, Brachycephaly |
ORPHA:2097 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Pyloric stenosis, Wide anterior fontanel, Submucous cleft hard palate, ... |
ORPHA:457279 |
Diaphanospondylodysostosis |
|
Epicanthus, Depressed nasal bridge, Micrognathia, Depressed nasal ridge, Cleft palate, Short nose |
OMIM:608022 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Thick eyebrow, Anteverted nares, Depressed n... |
ORPHA:1465 |
Fibrochondrogenesis 1 |
|
Anteverted nares, Depressed nasal bridge, Wide anterior fontanel, Narrow mouth, Cleft palate, Sti... |
OMIM:228520 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Anteverted nares, Prominent nasal bridge, Trismus, Deep philtrum, Dental malocclusion, Narrow pal... |
OMIM:227330 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
Cat Eye Syndrome |
|
Anal stenosis, Epicanthus, Intestinal malrotation, Rectal fistula, Micrognathia, Patent ductus ar... |
OMIM:115470 |
Saethre-Chotzen Syndrome |
|
Epicanthus, Depressed nasal bridge, Prominent nasal bridge, Open bite, Hypoplasia of the maxilla,... |
ORPHA:794 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Severe periodontitis, Palpebral edema, Depressed nasal bridge, Protruding ... |
ORPHA:99843 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Macular coloboma, Narrow palpebral fissure, Long philtrum, Microphthalmia, Iris coloboma, Ptosis |
OMIM:615145 |
Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Ankyloblepharon, Popliteal pter... |
OMIM:119500 |
B4Galt1-Cdg |
|
Thin upper lip vermilion, Wide nasal bridge, Long philtrum |
ORPHA:79332 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Prominent nose, Underdeveloped nasal alae, Patent ductus arteriosus, Wide nasal bridge, Tooth age... |
ORPHA:2637 |
Desbuquois Dysplasia 1 |
|
Microretrognathia, Depressed nasal bridge, Narrow mouth, Concave nasal ridge, Long philtrum, Mala... |
OMIM:251450 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Anteverted nares, Broad nasal tip, Carious teeth, Prominent nasolabial fold, High palate, Long ph... |
ORPHA:357074 |
Split Lower Lip |
|
Abnormal lower lip morphology, Lower lip pit, Narrow maxilla, Abnormality of the dentition |
OMIM:183400 |
Pfeiffer Syndrome Type 1 |
|
Aqueductal stenosis, Brachycephaly, Bicoronal synostosis, Midface retrusion |
ORPHA:93258 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Aganglionic megacolon, Anteverted nares, Highly arched eyebrow, Prominent nasal br... |
ORPHA:220497 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, High, narrow palate, Long philtrum, Aniridia, Umbilical hernia |
ORPHA:1101 |
Omodysplasia 1 |
|
Epicanthus, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Popliteal pterygium, Narrow ... |
OMIM:258315 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Short nose, Depressed nasal ridge |
OMIM:300863 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Epicanthus, Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Cleft palate, Upsl... |
OMIM:257300 |
Holoprosencephaly 14 |
|
Median cleft lip, Anteverted nares, Proboscis, Alobar holoprosencephaly, Aqueductal stenosis, Cle... |
OMIM:619895 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Micrognathia, Underdeveloped nasal alae, High, narrow palate, Cleft palate, Abnormal columella mo... |
ORPHA:436003 |
15Q Overgrowth Syndrome |
|
Mandibular prognathia, Microretrognathia, Telecanthus, Dental crowding, Micrognathia, High, narro... |
ORPHA:314585 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Impulsivity, Aggressive behavior, Microcephaly, Tongue thrusting, Thin corpus callosum,... |
OMIM:619580 |
Laryngotracheoesophageal Cleft |
|
Impaired oropharyngeal swallow response, Cyanosis, Choking episodes |
ORPHA:2004 |
Jacobsen Syndrome |
|
Eyelid coloboma, Broad columella, Iris coloboma, Abnormality of the anus, Death in infancy, Antev... |
ORPHA:2308 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Broad nasal tip, Synophrys, Bulbous... |
ORPHA:466950 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Epicanthus, Broad nasal tip, Prominent crus of helix, Deep philtrum, Su... |
OMIM:619194 |
Agnathia-Otocephaly Complex |
|
Wide nose, Micrognathia, Aglossia, Cleft palate, Narrow mouth, Mandibular aplasia, Microglossia, ... |
OMIM:202650 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose |
OMIM:618618 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Epicanthus, Short nose, Micrognathia |
OMIM:615851 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Telecanthus, Anteverted nares, Depressed nasal ... |
OMIM:166250 |
Dend Syndrome |
|
Anteverted nares, Bilateral ptosis, Downturned corners of mouth, Long philtrum, Short nose |
ORPHA:79134 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Submucous cleft hard... |
ORPHA:2588 |
Mucopolysaccharidosis-Plus Syndrome |
|
Epicanthus, Telecanthus, Wide nose, Synophrys, Patent ductus arteriosus, Wide nasal bridge, Macro... |
OMIM:617303 |
Kabuki Syndrome 2 |
|
Natal tooth, Epicanthus, Highly arched eyebrow, Micrognathia, Broad nasal tip, Lower lip pit, Den... |
OMIM:300867 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormality of the dentition, Optic disc c... |
ORPHA:568 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:601809 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Pfeiffer Syndrome Type 2 |
|
Depressed nasal bridge, Intestinal malrotation, Choanal atresia, Cleft palate, High palate, Malar... |
ORPHA:93259 |
Alkuraya-Kucinskas Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Upslanted palpebral fissure, High palate,... |
OMIM:617822 |
Verloove Vanhorick-Brubakk Syndrome |
|
Non-midline cleft lip, Cleft palate, Micrognathia |
ORPHA:3429 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Microretrognathia, Anteverted nares, Wide nasal bridge, Death in childhood, Long philtrum, Neonat... |
OMIM:614052 |
Achard Syndrome |
|
Broad skull, Brachycephaly |
OMIM:100700 |
White-Sutton Syndrome |
|
Hyperactivity, Optic nerve hypoplasia, Aggressive behavior, Microcephaly, Abnormal repetitive man... |
OMIM:616364 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Malar flattening, Sh... |
OMIM:613038 |
Kyphomelic Dysplasia |
|
Depressed nasal bridge, Micrognathia, Cleft upper lip, Cleft palate, Pterygium |
OMIM:211350 |
Wiedemann-Steiner Syndrome |
|
Thin upper lip vermilion, Epicanthus, Telecanthus, Thick eyebrow, Synophrys, Wide nasal bridge, H... |
ORPHA:319182 |
Adnp Syndrome |
|
Trigonocephaly, Oral-pharyngeal dysphagia, Aggressive behavior, Bilateral ptosis, Microcephaly, B... |
ORPHA:404448 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose, Micrognathia |
OMIM:256600 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Intestinal obstruction, Malabsorption, Keratoconjunctivitis sicca, Microphthalm... |
OMIM:601675 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Telecanthus, Sparse eyelashes, Choanal atresia, Abnormality of the dentition, Microg... |
ORPHA:2108 |
Limb Body Wall Complex |
|
Encephalocele, Depressed nasal bridge, Choanal atresia, Spina bifida, Myelomeningocele, Hydroceph... |
ORPHA:2369 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Optic nerve hypoplasia, Broad nasal tip, Hypoplasia of the maxilla, Patent... |
ORPHA:79345 |
Naxos Disease |
|
Cleft upper lip |
ORPHA:34217 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Oligodontia, Fused teeth, Laterally curved eyebrow, Iris coloboma, Bifid uvula, Per... |
OMIM:300166 |
Periventricular Nodular Heterotopia 9 |
|
Everted upper lip vermilion, Epicanthus, Hypoplastic philtrum, Synophrys, Gingival overgrowth, Hi... |
OMIM:618918 |
Hennekam-Beemer Syndrome |
|
Wide nose, Micrognathia, Long nose, Thick lower lip vermilion, Wide nasal bridge, Upslanted palpe... |
ORPHA:2135 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Epicanthus, Dental crowding, ... |
OMIM:300998 |
Den Hoed-De Boer-Voisin Syndrome |
|
Thick eyebrow, Microcephaly, Brachycephaly, Death in adolescence, Downslanted palpebral fissures,... |
OMIM:619229 |
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus |
|
Open bite, Dental crowding, Hyperplasia of the maxilla |
OMIM:613671 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Thin upper lip vermilion, Micrognathia, Synophrys, Patent ductus arteriosus after b... |
ORPHA:529962 |
Toriello-Carey Syndrome |
|
Telecanthus, Aganglionic megacolon, Micrognathia, Sparse eyebrow, Wide anterior fontanel, Patent ... |
ORPHA:3338 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Unilateral ptosis, Optic nerv... |
ORPHA:508498 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:166300 |
Megalencephaly |
|
Wide nasal bridge |
ORPHA:2477 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Cleft lip, Malrotation of small bowel, Cleft palate,... |
ORPHA:2953 |
Osteogenesis Imperfecta, Type Xx |
|
Highly arched eyebrow, Microcephaly, Brachycephaly, Plagiocephaly, Midface retrusion, Sparse late... |
OMIM:618644 |
Lymphedema-Distichiasis Syndrome |
|
Ectropion, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Conjunctivitis, Distichiasis,... |
ORPHA:33001 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Mandibular prognathia, Thin upper lip vermilion, Wide nasal bridge, Short palpebral fissure |
OMIM:619714 |
Perlman Syndrome |
|
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Depressed nasal br... |
OMIM:267000 |
Steel Syndrome |
|
Anteverted nares, Wide nasal bridge |
OMIM:615155 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
Distal Deletion 3P |
|
Epicanthus, Telecanthus, Anteverted nares, Micrognathia, Cleft palate, Downturned corners of mout... |
ORPHA:1620 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Aggressive behavior, Microcephaly, Abnormal repetitive mannerisms, Brachycephaly, Stereotypical h... |
OMIM:212066 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Neonatal death, Depressed nasal bridge, Wide nasal bridge, Micrognathia |
OMIM:614887 |
Menkes Disease |
|
Death in childhood, Brachycephaly, Microcephaly |
OMIM:309400 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Intestinal malrotation, Hypoplastic philtrum, Hiatus hernia, Bulbous nose, Patent ductus arterios... |
OMIM:616682 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Aganglionic megacolon, Anteverted nares, Highly arched eyebrow, Prominent nasal br... |
ORPHA:220493 |
Wolf-Hirschhorn Syndrome |
|
Epicanthus, Rieger anomaly, Convex nasal ridge, Highly arched eyebrow, Cleft upper lip, Micrognat... |
OMIM:194190 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Wide nasal bridge, Cleft palate, Gingivitis |
ORPHA:2314 |
High Altitude Pulmonary Edema |
|
Hypoxemia, Cyanosis, Anorexia |
ORPHA:330012 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Telecanthus, Wide nose, Anteverted nares, Highly arched eyebrow, Rectal pr... |
OMIM:303600 |
Cooper-Jabs Syndrome |
|
Umbilical hernia, Frontal bossing, Brachycephaly |
ORPHA:1488 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Coloboma, Death in childhood |
OMIM:613153 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Shallow orbits, Coloboma, Microphthalmia, Micrognathia |
OMIM:617306 |
Van Esch-O'Driscoll Syndrome |
|
Depressed nasal bridge, Esophageal atresia, Tracheoesophageal fistula, Retrognathia, Downturned c... |
OMIM:301030 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Umbilical hernia, Prominent superficial blood vessels, Frontal bossing, Brachycephaly |
OMIM:219150 |
Aica-Ribosiduria |
|
Brachycephaly |
ORPHA:250977 |
Rodrigues Blindness |
|
Narrow nasal bridge, Microphthalmia, Tooth malposition |
OMIM:268320 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Carious teeth, Pyloric stenosis, Eclabion, Microphthalmia, Meckel diverticulum, Ectr... |
OMIM:616395 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Thin upper lip vermilion, Ptosis, Depressed nasal bridge, Micrognathia, Broad nasal tip, Bulbous ... |
OMIM:309590 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Ectropion of lower eyelids, Oligodontia, Eyelid coloboma, Widely spaced teet... |
OMIM:615873 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Epicanthus, Carious teeth, Wide nasal bridge, Enamel hypoplasia |
OMIM:277440 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Epicanthus, Depressed nasal bridge, Wide mouth, High palate, Death in childhood, Short nose, Down... |
OMIM:300661 |
Focal Dermal Hypoplasia |
|
Narrow nasal bridge, Delayed eruption of teeth, Cleft ala nasi, Anophthalmia, Intestinal malrotat... |
OMIM:305600 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Unilateral ptosis, Thin upper lip vermilion, Dental crowding, Anteverted nares, Highly arched eye... |
OMIM:301044 |
Van Den Ende-Gupta Syndrome |
|
Abnormal eyebrow morphology, Dental crowding, Depressed nasal bridge, Micrognathia, Hypoplasia of... |
OMIM:600920 |
Opitz Gbbb Syndrome |
|
Natal tooth, Telecanthus, Anteverted nares, Micrognathia, Cleft lip, Patent ductus arteriosus, Tr... |
ORPHA:2745 |
Bohring-Opitz Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Cleft lip, Synophrys, Wide nasal bridge, ... |
ORPHA:97297 |
Apert Syndrome |
|
Absent septum pellucidum, Sagittal craniosynostosis, Craniosynostosis, Megalencephaly, Hydrocepha... |
OMIM:101200 |
Immunodeficiency 59 And Hypoglycemia |
|
Micrognathia, Malabsorption, Recurrent upper respiratory tract infections, Wide nasal bridge, Hig... |
OMIM:233600 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Death in infancy, Epicanthus, Anteverted nares, Cleft upper lip, High, nar... |
ORPHA:373 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Prominent nose, Co... |
OMIM:180849 |
Encephalopathy, Ethylmalonic |
|
Focal T2 hyperintense basal ganglia lesion, Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Zttk Syndrome |
|
Epicanthus, Depressed nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Spar... |
OMIM:617140 |
Joubert Syndrome 22 |
|
Microphthalmia, Coloboma |
OMIM:615665 |
Witteveen-Kolk Syndrome |
|
High, narrow palate, Short philtrum, High palate, Shallow orbits, Iris coloboma, Hyperplasia of t... |
OMIM:613406 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Telecanthus, Lip pit, Hypodontia, Microphthalmia, Iris coloboma, Abnormal ... |
ORPHA:1236 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Telecanthus, Highly arched eyebrow, Microcephaly, Brachycephaly, Telangiectasia, Plagiocephaly, A... |
ORPHA:495818 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Hydrocephalus, Brachycephaly, Lambdoidal craniosynostosis, Coronal craniosynosto... |
OMIM:207410 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Broad... |
OMIM:101800 |
Khan-Khan-Katsanis Syndrome |
|
Tented upper lip vermilion, Patent ductus arteriosus after premature birth, Trichiasis, Highly ar... |
OMIM:618460 |
Aicardi-Goutieres Syndrome 1 |
|
Intracerebral periventricular calcifications, Microcephaly, Basal ganglia calcification, Erythema... |
OMIM:225750 |
Alagille Syndrome |
|
Frontal bossing, Telangiectasia of the skin, Brachycephaly, Spina bifida occulta, Downslanted pal... |
ORPHA:52 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Anal stenosis, Tented upper lip vermilion, Microretrog... |
ORPHA:280633 |
Amish Lethal Microcephaly |
|
Death in infancy, Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Micrognathia, Lissenc... |
ORPHA:99742 |
Cockayne Syndrome Type 1 |
|
Anophthalmia, Delayed eruption of primary teeth, Abnormality of the dentition, Widely spaced prim... |
ORPHA:90321 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Epicanthus, Micrognathia, Cleft palate, Long philtrum, Microphthalmia, Umbilical hernia |
ORPHA:2505 |
Frontometaphyseal Dysplasia 1 |
|
Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal... |
OMIM:305620 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Blepharophimosis, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Microdontia, Microphtha... |
ORPHA:2728 |
Atelosteogenesis, Type I |
|
Encephalocele, Depressed nasal bridge, Micrognathia, Cleft palate, Stillbirth, Multinucleated gia... |
OMIM:108720 |
Angelman Syndrome |
|
Mandibular prognathia, Flat occiput, Hypoplasia of the maxilla, Brachycephaly, Secondary microcep... |
OMIM:105830 |
Cranioectodermal Dysplasia 2 |
|
Unilateral ptosis, Micrognathia, Fused teeth, High palate, Widely spaced teeth, Microdontia, Depr... |
OMIM:613610 |
Peters Plus Syndrome |
|
Intestinal fistula, Thin upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, Depresse... |
ORPHA:709 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Frontal bossing, Hyperactivity, Aggressive behavior, Synophrys, Brachycephaly, Self-injurious beh... |
OMIM:616078 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Cleft palate, Concave nasal ridge, Short philtrum, Sparse lateral eyebrow |
OMIM:617337 |
Fanconi Anemia, Complementation Group L |
|
Micrognathia, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Wide nasal bridge, Ups... |
OMIM:614083 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida, Microcephaly |
ORPHA:64754 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Wide nasal bridge |
ORPHA:168486 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Depressed nasal bridge, Esophageal diverticulum, Hamartoma of tongue, Micrognathia, ... |
OMIM:617925 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Duodenal stenosis |
ORPHA:2470 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Cerebellar vermis hypoplasia, Brachycephaly, Posterior plagiocephaly, Abnormal repetitive manneri... |
OMIM:620330 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Abnormality of the dentition, Cleft upper lip |
OMIM:273400 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Epicanthus, Microcephaly, Thick corpus callosum, Brachycephaly, Posterior plagiocephaly, Hyperint... |
OMIM:617798 |
C Syndrome |
|
Death in infancy, Epicanthus, Anteverted nares, Depressed nasal bridge, Accessory oral frenulum, ... |
ORPHA:1308 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Micrognathia, Lens coloboma, Microphthalmia, Umbilical hernia, Retrognathia |
OMIM:618914 |
Toriello-Lacassie-Droste Syndrome |
|
Epicanthus, Telecanthus, Aganglionic megacolon, Anteverted nares, Blepharophimosis, Eyelid colobo... |
ORPHA:3339 |
Mend Syndrome |
|
Telecanthus, Prominent nasal bridge, Micrognathia, Asymmetry of the mouth, Wide anterior fontanel... |
ORPHA:401973 |
X-Linked Intellectual Disability, Wilson Type |
|
Brachycephaly, Microcephaly |
ORPHA:85290 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Synophrys, Tracheoesophageal fistula, Cleft palate |
ORPHA:261272 |
Arthrogryposis Multiplex Congenita 5 |
|
Death in infancy, Anteverted nares, Micrognathia, Wide nasal bridge, Upslanted palpebral fissure,... |
OMIM:618947 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Short nose, Depressed nasal bridge |
OMIM:614732 |
Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, Epicanthus, Tented upper lip vermilion, High, narrow palate, Synophrys, Bu... |
ORPHA:488632 |
Hermansky-Pudlak Syndrome 2 |
|
Thin upper lip vermilion, Epicanthus, Carious teeth, Wide nasal bridge, Upslanted palpebral fissu... |
OMIM:608233 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Synophrys, Anteriorly placed anus, Olig... |
OMIM:612289 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Short nose, Recurrent upper respiratory tract infections, Micrognathia |
ORPHA:3078 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla |
OMIM:608154 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Micrognathia, High palate, Long philtrum, Short nose, Smooth philtrum |
OMIM:617527 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Anteverted nares, Depressed nasal bridge, Narrow mouth, Microdontia, Short nose, Aplasia/Hypoplas... |
ORPHA:2719 |
Distal Deletion 12Q |
|
Telecanthus, Median cleft lip, Anteverted nares, Micrognathia, High, narrow palate, Supernumerary... |
ORPHA:96149 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Ptosis |
ORPHA:98913 |
Dravet Syndrome |
|
Global brain atrophy, Obsessive-compulsive trait, Cyanotic episode, Impulsivity |
ORPHA:33069 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Short nose, Hypodontia |
ORPHA:544503 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Miscarriage, Cleft palate, Cleft upper lip |
ORPHA:96181 |
Hurler Syndrome |
|
Anteverted nares, Depressed nasal bridge, Broad nasal tip, Bilateral ptosis, Gingival overgrowth,... |
OMIM:607014 |
7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Cutis marmorata, Craniosynostosis, Aggressive behavior, Hydrocephal... |
ORPHA:96121 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Long philtrum |
OMIM:615877 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Telecanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Protruding tong... |
ORPHA:50945 |
Microlissencephaly-Micromelia Syndrome |
|
Short nose, Palpebral edema, Long philtrum |
ORPHA:50810 |
Renal And Mullerian Duct Hypoplasia |
|
Short nose, Micrognathia |
OMIM:266810 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Flat occiput, Depressed nasal bridge... |
OMIM:614188 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Wide nose, Anophthalmia, Anteverted nares, Wide nasal bridge, Thick vermilion border, Long philtr... |
ORPHA:2526 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Telecanthus, Wide nasal bridge, Ptosis |
OMIM:247410 |
Plaa-Associated Neurodevelopmental Disorder |
|
Tented upper lip vermilion, Micrognathia, High palate, Long philtrum, Short nose, Smooth philtrum |
ORPHA:521426 |
Deeah Syndrome |
|
Death in infancy, Epicanthus, Malabsorption, Narrow palate, Death in adolescence, Death in childh... |
OMIM:619004 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Ankyloglossia |
OMIM:618021 |
Sclerosteosis 1 |
|
Mandibular prognathia, Depressed nasal bridge, Dental malocclusion, Wide nasal bridge, Facial pal... |
OMIM:269500 |
Oculoskeletodental Syndrome |
|
Epicanthus, Wide nasal bridge, Macroglossia, Oligodontia, Protein-losing enteropathy, Broad colum... |
OMIM:618440 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Depressed nasal bridge, Sparse eyebrow, High palate, Microphthalmia, Downslante... |
ORPHA:35173 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Frontal bossing, Partial agenesis of the corpus callosum, Brachycephaly, Cerebral atrophy, Plagio... |
OMIM:617296 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Colitis, Depressed nasal bridge, Wide nasal bridge |
OMIM:614602 |
Czeizel-Losonci Syndrome |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Upslanted palpebral fissure, Thin calvarium, Spina... |
ORPHA:2437 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Thin upper lip vermilion, Anteverted nares, Highly arched eyebrow, Synophrys, Wide nasal bridge, ... |
OMIM:616728 |
Ctcf-Related Neurodevelopmental Disorder |
|
Thin upper lip vermilion, Epicanthus, Anteverted nares, Highly arched eyebrow, Abnormality of the... |
ORPHA:363611 |
1P21.3 Microdeletion Syndrome |
|
Broad nasal tip, Micrognathia, Wide mouth, Upslanted palpebral fissure, Short nose |
ORPHA:293948 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele |
ORPHA:1528 |
46,Xy Sex Reversal 4 |
|
Anteverted nares, Micrognathia, Prominent nose, Depressed nasal ridge, Cleft palate, Upslanted pa... |
OMIM:154230 |
Robinow Syndrome |
|
Dental crowding, Anteverted nares, Depressed nasal bridge, Persistence of primary teeth, Microgna... |
ORPHA:97360 |
Sialidosis Type 1 |
|
Thick lower lip vermilion, Wide nasal bridge |
ORPHA:812 |
Constricting Bands, Congenital |
|
Encephalocele, Cleft palate, Cleft upper lip |
OMIM:217100 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormal eyelash morphology, Anteverted nares, Wide nasal bridge |
ORPHA:2518 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Anteverted nares, Abnormality of the dentition, Downturned corners of mouth, Shallow orbits, Mala... |
OMIM:612394 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Abnormal cerebral white matter morphology, Downslanted palpebral fissures, Brachycephaly, Microce... |
OMIM:618885 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Micrognathia, Long nose, Synophrys, Cleft palate, Narrow palpebral fissure, High palate, Narrow m... |
OMIM:301091 |
Hereditary Bullous Dystrophy, Macular Type |
|
Turricephaly, Acrocyanosis, Microcephaly |
ORPHA:1867 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Geleophysic Dysplasia 3 |
|
Anteverted nares, Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Thick vermilion border... |
OMIM:617809 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Micrognathia, High, ... |
ORPHA:369837 |
Joubert Syndrome 2 |
|
Encephalocele, Depressed nasal bridge, Optic disc coloboma, High palate, Chorioretinal coloboma, ... |
OMIM:608091 |
Primary Pulmonary Hypoplasia |
|
Hypoxemia, Epicanthus, Cyanosis, Microcephaly |
ORPHA:2257 |
Cadds |
|
Short nose, Micrognathia |
ORPHA:369942 |
Smith-Lemli-Opitz Syndrome |
|
Micrognathia, Advanced eruption of teeth, Iris coloboma, Abnormal dental morphology, Abnormal den... |
ORPHA:818 |
Chops Syndrome |
|
Anteverted nares, High, narrow palate, Synophrys, Patent ductus arteriosus, Downturned corners of... |
OMIM:616368 |
Jaberi-Elahi Syndrome |
|
Sparse eyelashes, Depressed nasal bridge, Sparse eyebrow, Triangular mouth, Short nose |
OMIM:617988 |
Diamond-Blackfan Anemia 1 |
|
Epicanthus, Cleft upper lip, Micrognathia, Depressed nasal ridge, Retrognathia, Cleft palate, Col... |
OMIM:105650 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Thin upper lip vermilion, Wide nasal bridge |
OMIM:614376 |
Cerebellar-Facial-Dental Syndrome |
|
Anteverted nares, Micrognathia, Sparse eyebrow, Dental malocclusion, Alveolar ridge overgrowth, W... |
ORPHA:444072 |
Ogden Syndrome |
|
Micrognathia, Abnormal eyelid morphology, Deep philtrum, Short philtrum, High palate, Thick upper... |
OMIM:300855 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Cleft palate |
OMIM:257910 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Depressed nasal bridge, Micrognathia, Cleft upper lip, Stillbirth, Umbilical hernia |
OMIM:308050 |
Weill-Marchesani Syndrome 1 |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Patent ductus arteriosus, Microspherophakia, N... |
OMIM:277600 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Microphtha... |
ORPHA:231736 |
White-Sutton Syndrome |
|
Hyperactivity, Aggressive behavior, Hypoplasia of the pons, Microcephaly, Brachycephaly, Self-inj... |
ORPHA:468678 |
Duane-Radial Ray Syndrome |
|
Anal stenosis, Epicanthus, Aganglionic megacolon, Abnormal nasopharynx morphology, Choanal atresi... |
OMIM:607323 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Epicanthus, Exaggerated cupid's bow, Spina bifida, Broad nasal tip, Patent ductus arteriosus, Wid... |
OMIM:619480 |
Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis, Anorexia |
ORPHA:1302 |
Focal Dermal Hypoplasia |
|
Narrow nasal bridge, Abnormal dental morphology, Abnormal dental enamel morphology, Spina bifida,... |
ORPHA:2092 |
Mosaic Trisomy 9 |
|
Intestinal malrotation, Spina bifida, Micrognathia, Bulbous nose, Patent ductus arteriosus, Cleft... |
ORPHA:99776 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Micrognathia, Patent ductus arteriosus, Bilateral microphthalmos, Wide nasal bridge... |
OMIM:601186 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Aplasia/Hypoplasia of the lens, Thin vermilion border, Long philtrum... |
ORPHA:85194 |
Larsen Syndrome |
|
Depressed nasal bridge, Cleft upper lip, Cleft palate, Hypodontia, Shallow orbits, Malar flatteni... |
OMIM:150250 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Epicanthus, Thick eyebrow, Exaggerated cupid's bow, Wide nasal bridge, Fus... |
OMIM:300896 |
Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Microcephaly |
OMIM:250800 |
3Mc Syndrome 3 |
|
Highly arched eyebrow, Cleft upper lip, Cleft palate, Blepharophimosis, Epicanthus inversus, Ptosis |
OMIM:248340 |
Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Narrow mouth, Bilateral ptosis, Patent ductus a... |
ORPHA:1272 |
Cree Mental Retardation Syndrome |
|
Downslanted palpebral fissures, Brachycephaly, Ptosis |
OMIM:606851 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Epicanthus, Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Supernumerary toot... |
OMIM:617088 |
Pfeiffer Syndrome Type 3 |
|
Depressed nasal bridge, Intestinal malrotation, Choanal atresia, Cleft palate, High palate, Short... |
ORPHA:93260 |
Faciocardiomelic Syndrome |
|
Ptosis, Telecanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Dental malocclusion,... |
OMIM:612731 |
Cog5-Cdg |
|
Retrognathia, High palate, Wide nasal bridge, Prominent nose |
ORPHA:263487 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Optic nerve hypoplasia, Macroglossia, Coloboma, Microphthalmia |
ORPHA:370959 |
Nail-Patella Syndrome |
|
Spina bifida, Cleft upper lip, Antecubital pterygium, Cleft palate, Microphakia, Ptosis |
OMIM:161200 |
Multiple Synostoses Syndrome 1 |
|
Thin upper lip vermilion, Asymmetry of the mouth, Underdeveloped nasal alae, Wide nasal bridge, U... |
OMIM:186500 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Lacrimal duct stenosis, Palpebral edema, Anteverted nares, Depressed nasal bridge, Broad nasal ti... |
ORPHA:221139 |
Holoprosencephaly 1 |
|
Proboscis, Aplasia of the nose, Microphthalmia, Cyclopia, Median cleft lip and palate |
OMIM:236100 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Narrow nasal tip, Abnormality of canine, Sparse eyebr... |
ORPHA:477993 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Frontal bossing, Anteverted nares, Craniosynostosis, Micrognathia, H... |
ORPHA:2462 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Epicanthus, Abnormal dental morphology, Abnormal oral mucosa morpholog... |
ORPHA:2136 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Narrow nasal bridge, Microphthalmia, Keratoconjunctivitis sicca, Abnormality of the dentition |
ORPHA:1806 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Lacrimal gland aplasia, Telecanthus, Ectropion, Duplicated lacrimal punctum, Highly arched eyebro... |
ORPHA:572333 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Epicanthus, Depressed nasal bridge, Cleft upper lip, Wide anterior fontanel, Synophrys, Submucous... |
OMIM:607872 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Abnormality of the dentition, Pat... |
ORPHA:457395 |
48,Xxxy Syndrome |
|
Epicanthus, Brachycephaly, Upslanted palpebral fissure, Attention deficit hyperactivity disorder,... |
ORPHA:96263 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Plagiocephaly, Brachycephaly |
OMIM:619910 |
Achondrogenesis, Type Ii |
|
Frontal bossing, Stillbirth, Brachycephaly |
OMIM:200610 |
Saethre-Chotzen Syndrome |
|
Abnormal nasolacrimal system morphology, Hypoplasia of the maxilla, Long nose, Prominent crus of ... |
OMIM:101400 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Micrognathia, Prominent nose, Synophrys, Widely spaced teeth, High palate,... |
OMIM:612474 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
Hurler Syndrome |
|
Death in infancy, Anteverted nares, Depressed nasal bridge, Wide nasal bridge, Macroglossia, Rhin... |
ORPHA:93473 |
Neuroocular Syndrome |
|
Synophrys, Lens coloboma, Downturned corners of mouth, Widely spaced teeth, Torus palatinus, Iris... |
OMIM:619539 |
Frontometaphyseal Dysplasia 2 |
|
Depressed nasal bridge, Broad nasal tip, Pyloric stenosis, Deep philtrum, Pierre-Robin sequence, ... |
OMIM:617137 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Microcephaly, Hypoplasia of olfactory tract, Midface retrusion, Brachyturricephaly... |
ORPHA:314621 |
Roberts Syndrome |
|
Micrognathia, Underdeveloped nasal alae, Cleft upper lip, Cleft palate, High palate, Microphthalm... |
ORPHA:3103 |
Tarp Syndrome |
|
Thick eyebrow, Anteverted nares, Micrognathia, Pierre-Robin sequence, Alveolar ridge overgrowth, ... |
ORPHA:2886 |
Myhre Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Prominent nasal bridge, Hypoplasia of the maxill... |
OMIM:139210 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Cleft maxillary alveolar ridge, Spina bifida occulta, Microretrognathia, Antevert... |
ORPHA:508488 |
Cleidocranial Dysplasia 1 |
|
Depressed nasal bridge, Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, ... |
OMIM:119600 |
Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality, Brachycephaly |
ORPHA:349 |
Trichohepatoneurodevelopmental Syndrome |
|
Epicanthus, Ectropion, Microcephaly, Almond-shaped palpebral fissure, Synophrys, Brachycephaly, C... |
OMIM:618268 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormality of the dentition, Micrognathia, Narrow mouth, Short nose, Convex nasal ridge |
ORPHA:90154 |
Doors Syndrome |
|
Short lingual frenulum, Downturned corners of mouth, Widely spaced teeth, High palate, Spina bifi... |
ORPHA:79500 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Rectal prolapse, Hypoplastic facial bones, Convex nasal ridge |
OMIM:619793 |
14Q22Q23 Microdeletion Syndrome |
|
Downturned corners of mouth, Optic nerve aplasia, Anophthalmia, Underdeveloped nasal alae |
ORPHA:264200 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla |
ORPHA:3044 |
Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Death in infancy, Anteverted nares, Micrognathia, Carious teeth, Short nose, Thin ve... |
OMIM:601559 |
De Barsy Syndrome |
|
Epicanthus, Cerebellar vermis hypoplasia, Progeroid facial appearance, Brachycephaly, Prominent v... |
ORPHA:2962 |
Kbg Syndrome |
|
Telecanthus, Microcephaly, Synophrys, Brachycephaly, Attention deficit hyperactivity disorder, Lo... |
OMIM:148050 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Decreased calvarial ossification, Cyanosis, Holoprosencephaly |
OMIM:619879 |
Galloway-Mowat Syndrome 1 |
|
Epicanthus, Narrow nasal ridge, Micrognathia, Hiatus hernia, Prominent nose, Wide mouth, Hypoplas... |
OMIM:251300 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Brachycephaly |
ORPHA:1173 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Low hanging columella, Submuc... |
OMIM:235730 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Warburg Micro Syndrome 2 |
|
Microcephaly, Brachycephaly, Secondary microcephaly, Hypoplasia of the corpus callosum, Polymicro... |
OMIM:614225 |
Williams Syndrome |
|
Death in early adulthood, Abnormal dental enamel morphology, Micrognathia, Carious teeth, Microce... |
ORPHA:904 |
Humero-Radial Synostosis |
|
Meningocele, Microcephaly |
ORPHA:3265 |
Muscle-Eye-Brain Disease |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Velocardiofacial Syndrome |
|
Underdeveloped nasal alae, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robi... |
OMIM:192430 |
Ablepharon-Macrostomia Syndrome |
|
Hypoplasia of the zygomatic bone, Aplastic zygomatic arch, Abnormal nasal morphology |
OMIM:200110 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis |
OMIM:263000 |
Pitt-Hopkins Syndrome |
|
Deep philtrum, Flared nostrils, Wide nasal bridge, Wide mouth, Upslanted palpebral fissure, Short... |
OMIM:610954 |
Alg9-Cdg |
|
Microretrognathia, Thin upper lip vermilion, Villous atrophy, Telecanthus, Depressed nasal bridge... |
ORPHA:79328 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Neu-Laxova Syndrome |
|
Cerebral calcification, Absent septum pellucidum, Spina bifida, Micrognathia, Microcephaly, Trism... |
ORPHA:2671 |
Moebius Syndrome |
|
Death in infancy, Epicanthus, Aplasia/Hypoplasia of the tongue, Micrognathia, Cleft palate, Abnor... |
ORPHA:570 |
Fibular Hemimelia |
|
Anophthalmia, Spina bifida |
ORPHA:93323 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Epicanthus, Micrognathia, Synophrys, Dental malocclusion, Wide nasal bridge, Localized hypoplasia... |
ORPHA:73223 |
Curry-Jones Syndrome |
|
Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip pit, Lipomyelomeningoce... |
OMIM:601707 |
Larsen-Like Syndrome |
|
Frontal bossing, Brachycephaly |
OMIM:608545 |
Neu-Laxova Syndrome 2 |
|
Spina bifida, Microcephaly, Micrognathia, Depressed nasal ridge, Lissencephaly, Cerebellar hypopl... |
OMIM:616038 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Anteverted nares, In... |
ORPHA:2729 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Thick eyebrow, Hypoplastic philtrum |
OMIM:620047 |
Phocomelia, Schinzel Type |
|
Micrognathia, High, narrow palate, Meningocele, Tracheoesophageal fistula, Cleft palate, Short no... |
ORPHA:2879 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Epicanthus, Meningocele, Dolichocephaly, Umbilical hernia, Downslanted... |
ORPHA:2789 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Cleft palate |
OMIM:607361 |
Mucopolysaccharidosis, Type X |
|
Diastema, Open bite, Wide nasal bridge, Widely spaced teeth, Long philtrum |
OMIM:619698 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Lateral Meningocele Syndrome |
|
Micrognathia, Hydrocephalus, Meningocele, Umbilical hernia, Dolichocephaly, Platybasia, Malar fla... |
OMIM:130720 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Macroglossia |
OMIM:613155 |
Congenital Pulmonary Lymphangiectasia |
|
Cyanosis |
ORPHA:2414 |
Ethylmalonic Encephalopathy |
|
Abnormal basal ganglia MRI signal intensity, Acrocyanosis, Petechiae |
ORPHA:51188 |
Aica-Ribosuria Due To Atic Deficiency |
|
Frontal bossing, Brachycephaly |
OMIM:608688 |
H Syndrome |
|
Abnormal eyebrow morphology, Malabsorption, Cleft upper lip, Recurrent pharyngitis, Gingival over... |
ORPHA:168569 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Epicanthus, Irregularly spaced teeth, Recurrent sinusitis, Umbilical hernia, Bowel diverticulosis... |
OMIM:130000 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Retinal coloboma |
ORPHA:363741 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele |
OMIM:617255 |
Chime Syndrome |
|
Epicanthus, Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Depres... |
ORPHA:3474 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Anteverted nares, Depressed nasal bridge, Optic nerve... |
ORPHA:536471 |
Charge Syndrome |
|
Anophthalmia, Micrognathia, Coloboma, Iris coloboma, Cleft upper lip, Esophageal atresia, Patent ... |
OMIM:214800 |
Shprintzen Omphalocele Syndrome |
|
Epicanthus, Flared nostrils, Wide nasal bridge, Short columella, Thin vermilion border, Anal atresia |
OMIM:182210 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Retinal coloboma |
OMIM:601794 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Epicanthus, Micrognathia, Antecubital pterygium, Wide nasal bridge, Popliteal pterygium, Thin ver... |
OMIM:609945 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Microretrognathia, Prominent nasal bridge, Optic nerve hypoplasia, Bilateral microphthalmos, Wide... |
ORPHA:468631 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Micrognat... |
ORPHA:109 |
Chromosome 15Q25 Deletion Syndrome |
|
Tented upper lip vermilion, Cleft upper lip, Synophrys, Cleft palate, Thin vermilion border, Down... |
OMIM:614294 |
Noonan Syndrome 3 |
|
Epicanthus, Hypoplastic nasal bridge, Anteverted nares, Patent ductus arteriosus, High palate, Sh... |
OMIM:609942 |
Mesomelic Dysplasia, Nievergelt Type |
|
Brachycephaly, Dolichocephaly |
ORPHA:2633 |
Cartilage-Hair Hypoplasia |
|
Epicanthus, Aganglionic megacolon, Anteverted nares, Depressed nasal bridge, Malabsorption, Spars... |
ORPHA:175 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Abnormal eyelid morphology, Short philtrum, Abnormal dental enamel morphology, Spin... |
ORPHA:567 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Cleft palate |
OMIM:243440 |
Dahlberg-Borer-Newcomer Syndrome |
|
Telecanthus, Wide nasal bridge |
ORPHA:1563 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Congenital Heart Block |
|
Cyanosis |
ORPHA:60041 |
Monosomy 22Q13.3 |
|
Epicanthus, Dental crowding, Palpebral edema, Bulbous nose, Dental malocclusion, Wide nasal bridg... |
ORPHA:48652 |
Cog1-Cdg |
|
Thin upper lip vermilion, Micrognathia, Pierre-Robin sequence, Wide nasal bridge, High palate, Na... |
ORPHA:263508 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
Restrictive Dermopathy 1 |
|
Micrognathia, Neonatal death, Depressed nasal bridge, Narrow nasal ridge, Absent eyelashes, Wide ... |
OMIM:275210 |
Humeroradial Synostosis |
|
Brachycephaly |
OMIM:236400 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Wide nose, Anophthalmia, Abnormal dental enamel morphology, Hydrocephalus, Wide nasal bridge, Abn... |
ORPHA:2556 |
Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Epicanthus, Abnormal location of the eyebrow, Almond-shaped palpebral f... |
ORPHA:522077 |
Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Brachycephaly, Dolichocephaly, Long palpebral fissure, Bruis... |
OMIM:615582 |
Achondrogenesis, Type Ia |
|
Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Protruding tongue, Stillbirth... |
OMIM:200600 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Micrognathia, Pyloric stenosis, Rectal prolapse, Wide nasal bridge, Death in ch... |
OMIM:613177 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Epicanthus, Flat occiput, Aplasia/Hypoplasia of the corpus callosum, Upslanted palpebral fissure,... |
OMIM:214100 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoe... |
ORPHA:2538 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Culler-Jones Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:615849 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Broad nasal tip, Synophrys, Bulbous... |
ORPHA:466943 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Thick vermili... |
OMIM:613803 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Bu... |
OMIM:271510 |
Noonan Syndrome With Multiple Lentigines |
|
Excessive wrinkled skin, Spina bifida occulta, Brachycephaly, Ptosis |
ORPHA:500 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Anteverted nares, Depressed nasal bridge, Microcephaly, Meningocele, Prominent occiput, Macroceph... |
ORPHA:2311 |
Alg3-Cdg |
|
Cerebral white matter atrophy, Microcephaly, Hypoplasia of the pons, Neural tube defect, Subcorti... |
ORPHA:79321 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Death in infancy, Microphthalmia |
OMIM:613730 |
Gracile Bone Dysplasia |
|
Aniridia, Death in infancy, Microphthalmia, Ankyloglossia |
OMIM:602361 |
Mietens Syndrome |
|
Wide nose, Wide nasal bridge, Short nose |
ORPHA:2557 |
Osteogenesis Imperfecta, Type Xii |
|
Brachyturricephaly, Midface retrusion |
OMIM:613849 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Neonatal death, Short nose, Thick vermilion border, Long philtrum |
OMIM:252160 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Absent eyebrow, Frontal bossing, Absent eyelashes, Parietal foramina, Brachycephaly, Plagiocephal... |
ORPHA:85199 |
Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Synophrys, Wide nasal bridge, Umbilical hernia, Thick eyebrow |
OMIM:619636 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Micrognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Conical ... |
OMIM:261540 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Highly arched eyebrow, Micrognathia, Synophrys, Paten... |
ORPHA:444077 |
Trisomy 8P |
|
Anteverted nares, Depressed nasal bridge, Malrotation of small bowel, Recurrent upper respiratory... |
ORPHA:264450 |
Opsismodysplasia |
|
Depressed nasal bridge, Anteverted nares, Shallow orbits, Long palpebral fissure, Short nose, Lon... |
OMIM:258480 |
Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
Oculoectodermal Syndrome |
|
Giant cell granuloma of mandible, Epicanthus, Depressed nasal bridge, Patent ductus arteriosus, W... |
OMIM:600268 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Hypo... |
OMIM:225500 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microretrognathia, Thin upper lip vermilion, Telecanthus, Intestinal malrotation, Hiatus hernia, ... |
OMIM:601776 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Choking episodes, Dysphagia, Ptosis |
ORPHA:98914 |
Branchiootic Syndrome |
|
Branchial fistula, Abnormal nasolacrimal system morphology, Lip pit, Micrognathia, Cleft palate |
ORPHA:52429 |
Congenital Myasthenic Syndrome |
|
Cyanosis, Choking episodes, Dysphagia, Ptosis |
ORPHA:590 |
Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis |
ORPHA:464453 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Prominent nose, Abnormal periodontium morphology, High palate, Depressed nasal bridge, Patent duc... |
ORPHA:480880 |
Adult Syndrome |
|
Abnormal dental morphology, Prominent nasal bridge, Abnormality of the dentition, Wide nasal brid... |
ORPHA:978 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Micrognathia, Buphthalmos, Coloboma, Hypoplasia of the retina, Everted lower lip vermilion, Micro... |
OMIM:253280 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Frontal bossing, Craniosynostosis, Hydrocephalus, Brachycephaly, Downslanted palpebral fissures, ... |
OMIM:245600 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Choanal atresia, Optic disc coloboma, Cleft palate, Rectovaginal fistula,... |
OMIM:270420 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal basal ganglia MRI signal intensity, Cyanosis |
ORPHA:444013 |
Oculoauricular Syndrome |
|
Phthisis bulbi, Nasolacrimal duct obstruction, Retinal coloboma, Macular hypoplasia, Chorioretina... |
OMIM:612109 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Death in infancy, Remnants of the hyaloid vascular system, Optic nerve hypoplasia,... |
OMIM:614643 |
15q26 overgrowth syndrome |
|
Mandibular prognathia, Micrognathia, Prominent nose, Bulbous nose, Wide nasal bridge, High palate... |
DECIPHER:81 |
Meier-Gorlin Syndrome 4 |
|
Hypoplasia of the maxilla, Microcephaly, Micrognathia |
OMIM:613804 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Thin upper lip vermilion, Telecanthus, Bulbous nose, Wide nasal bridge, Eyelid coloboma, Anal atr... |
ORPHA:140952 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Cyanosis |
ORPHA:70587 |
Joubert Syndrome 1 |
|
Epicanthus, Hyperactivity, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Highly ar... |
OMIM:213300 |
Cornelia De Lange Syndrome |
|
Micrognathia, Synophrys, Downturned corners of mouth, Widely spaced teeth, High palate, Anteverte... |
ORPHA:199 |
Arterial Tortuosity Syndrome |
|
Hiatus hernia, Pyloric stenosis, Abnormal zygomatic bone morphology, Esophagitis, Blepharophimosi... |
ORPHA:3342 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Coloboma, Abnormally large globe |
OMIM:615249 |
Weill-Marchesani Syndrome 2 |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Patent ductus arteriosus, Microspherophakia, N... |
OMIM:608328 |
Greenberg Dysplasia |
|
Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Large placenta, Costal cartilage... |
OMIM:215140 |
Hunter-Macdonald Syndrome |
|
Brachycephaly, Upslanted palpebral fissure, Blepharophimosis, Umbilical hernia, Midface retrusion... |
OMIM:611962 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Epicanthus, Wide nose, Micrognathia, Depressed nasal ridge, Cleft palate, C... |
ORPHA:1052 |
Craniotubular Dysplasia, Ikegawa Type |
|
Epicanthus, Anteverted nares, Thick lower lip vermilion, Phthisis bulbi, Wide nasal bridge, Long ... |
OMIM:619727 |
Hereditary Orotic Aciduria |
|
Patent ductus arteriosus, Downslanted palpebral fissures, Wide nasal bridge |
ORPHA:30 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, ... |
OMIM:164210 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele |
ORPHA:1759 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Depressed nasal bridge, Blepharophimosis, Micrognathia, Patent ductus arteriosus, Depressed nasal... |
OMIM:620005 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Lymphangiectasia, Pulmonary, Congenital |
|
Malar flattening, Depressed nasal bridge, Palpebral edema, Wide nasal bridge |
OMIM:265300 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Epicanthus, Depressed nasal bridge, Accessory oral frenulum, Micrognathia, Wide anterior fontanel... |
OMIM:266920 |
Neurocutaneous Melanocytosis |
|
Aplasia/Hypoplasia of the cerebellum, Death in infancy, Meningocele, Dandy-Walker malformation |
ORPHA:2481 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Malar flattening, Sparse eyebrow, Concave nasal ridge, Microphthalmia, Downslan... |
OMIM:302960 |
Cranioectodermal Dysplasia 1 |
|
Epicanthus, Telecanthus, Anteverted nares, High, narrow palate, Wide nasal bridge, High palate, W... |
OMIM:218330 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal death, Death in infancy, Cyanosis |
OMIM:265120 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
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 |
Curry-Jones Syndrome |
|
Microphthalmia, Iris coloboma, Optic disc coloboma, Intestinal malrotation |
ORPHA:1553 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening, Microcephaly |
OMIM:231070 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Optic disc coloboma, Spina bifida occulta, Iris coloboma |
OMIM:169550 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Narrow nasal bridge, Frontal bossing, Micrognathia, Hypoplasia of the ... |
OMIM:259600 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hypoplasia of eyelid, Intestinal malrotation, Cleft soft palate, Optic nerve hypoplasia, Downturn... |
OMIM:619321 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thin upper lip vermilion, High palate, Wide nasal bridge |
ORPHA:572798 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Cerebral atrophy |
OMIM:261680 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hypoxemia, Cerebellar hemisphere hypoplasia, Brachycephaly, Secondary microcephaly |
ORPHA:456312 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Geleophysic Dysplasia 2 |
|
Thin upper lip vermilion, Short nose, Smooth philtrum, Long philtrum |
OMIM:614185 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Long nose, Narrow mouth, Bulbous nose, Gi... |
ORPHA:508533 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Abnormality of the dentition, Carious teeth, Malabsorption, Gingival overg... |
ORPHA:93 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma, Macular hypoplasia, Hypoplastic iris... |
ORPHA:2334 |
Contractural Arachnodactyly, Congenital |
|
Frontal bossing, Scaphocephaly, Brachycephaly, Dolichocephaly |
OMIM:121050 |
Cohen-Gibson Syndrome |
|
Epicanthus, Depressed nasal bridge, Patent ductus arteriosus, Wide nasal bridge, Umbilical hernia... |
OMIM:617561 |
Fanconi Anemia |
|
Micrognathia, Abnormal eyelid morphology, High palate, Spina bifida, Aplasia/Hypoplasia of the uv... |
ORPHA:84 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Esophageal atresia, Microphthalmia |
OMIM:206900 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Microretrognathia, Epicanthus, Carious teeth, Wide anterior fontanel, ... |
OMIM:278250 |
Fraser Syndrome 2 |
|
Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Rectal atresia, Narrow mouth, Micro... |
OMIM:617666 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Dental crowding, Narrow palate, Hyperplasia of the maxilla |
ORPHA:313892 |
Distal Deletion 19P |
|
Hypoplasia of the maxilla, Cleft palate, Short philtrum, Umbilical hernia, Thick eyebrow |
ORPHA:96129 |
Asbestos Intoxication |
|
Hypoxemia, Cyanosis, Oxygen desaturation on exertion |
ORPHA:2302 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Pterygium, Brachycephaly, Abnormality of the orbital region |
ORPHA:371428 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Synophrys, Coloboma, Short philtrum, High palate, Chorioretinal coloboma, Ir... |
OMIM:619475 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:212550 |
Keutel Syndrome |
|
Calcification of the auricular cartilage, Depressed nasal bridge, Cartilaginous ossification of n... |
OMIM:245150 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Epicanthus, Telecanthus, Anteverted nares, Broad nasal tip, Carious teeth, Long nose, Bulbous nos... |
OMIM:619522 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Absent cupid... |
ORPHA:513456 |
Kabuki Syndrome 1 |
|
Anal stenosis, Intestinal malrotation, Highly arched eyebrow, Abnormality of the dentition, Malab... |
OMIM:147920 |
Baller-Gerold Syndrome |
|
Epicanthus, Turricephaly, Optic nerve hypoplasia, Sagittal craniosynostosis, Craniosynostosis, Hy... |
OMIM:218600 |
Pontocerebellar Hypoplasia Type 7 |
|
Epicanthus, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Upslanted palpebral fissure,... |
ORPHA:284339 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Epicanthus, Telecanthus, Patent ductus arteriosus, Macroglossia, Conjunctivitis, Thick vermilion ... |
ORPHA:505248 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Exaggerated median tongue furrow, Anteverted nares, Depressed nasal bridge... |
OMIM:312870 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Frontometaphyseal Dysplasia |
|
Micrognathia, Wide nasal bridge, Cleft palate, Oligodontia, Spina bifida occulta, Downslanted pal... |
ORPHA:1826 |
Wiedemann-Rautenstrauch Syndrome |
|
Brachycephaly, Parietal bossing, Agenesis of corpus callosum, Dandy-Walker malformation, Absent e... |
OMIM:264090 |
Campomelic Dysplasia |
|
Relative macrocephaly, Frontal bossing, Depressed nasal bridge, Spina bifida, Micrognathia, Cario... |
OMIM:114290 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis |
OMIM:610773 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Sparse eyebrow, Synophrys, Brachycephaly, Thickened calvaria, Ptosis |
OMIM:309583 |
Cowden Syndrome 5 |
|
Hypoplasia of the maxilla, Progressive macrocephaly, Micrognathia |
OMIM:615108 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Degcags Syndrome |
|
Micrognathia, Prominent nose, Synophrys, High palate, Anteverted nares, Hiatus hernia, Abnormal e... |
OMIM:619488 |
Geleophysic Dysplasia 1 |
|
Anteverted nares, Wide mouth, Upslanted palpebral fissure, Long philtrum, Short nose, Smooth phil... |
OMIM:231050 |
Chand Syndrome |
|
Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Ankyloblepharon, Abnormal oral... |
ORPHA:1401 |
Spondylocarpotarsal Synostosis Syndrome |
|
Anteverted nares, Broad nasal tip, Cleft palate, Failure of eruption of permanent teeth, Enamel h... |
OMIM:272460 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida |
ORPHA:2345 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Highly arched eyebrow, Craniosynostosis, Cranial hyperostosis, Brach... |
ORPHA:309282 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Micrognathia, Broad nasal tip, Wide anterior fo... |
ORPHA:798 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Anal at... |
OMIM:613091 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia, High, narrow palate, Remnants of the hyaloid vascular system, Cleft palate |
ORPHA:2714 |
Schimke Immunoosseous Dysplasia |
|
Microdontia, Bulbous nose, Depressed nasal bridge, Wide nasal bridge |
OMIM:242900 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Cyanosis |
ORPHA:91359 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Thick vermilion border, Lon... |
OMIM:613805 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Telecanthus, Aganglionic megacolon, Prominent nasal bridge, Underdev... |
ORPHA:163746 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Microcephaly, Focal T2 hypointense basal ganglia lesion, Leukoencepha... |
OMIM:252010 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Frontal bossing, Cerebellar vermis hypoplasia, Depressed nasal bridge, A... |
ORPHA:397715 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Umbilical hernia, Frontal bossing, Brachycephaly |
OMIM:618188 |
Anterior Segment Dysgenesis 2 |
|
Coloboma, Anterior segment of eye aplasia, Aniridia, Microphthalmia, Congenital aphakia |
OMIM:610256 |
Cowden Syndrome 1 |
|
Hypoplasia of the maxilla, Progressive macrocephaly, Hemimegalencephaly, Micrognathia |
OMIM:158350 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Broad lateral eyebrow, Epicanthus, Depressed nasal bridge, Optic nerve hypoplasia, Hypoplasia of ... |
ORPHA:500150 |
Congenital Disorder Of Deglycosylation 1 |
|
Restlessness, Oral-pharyngeal dysphagia, Microcephaly, Brachycephaly, Impaired oropharyngeal swal... |
OMIM:615273 |
Cowden Syndrome 6 |
|
Hypoplasia of the maxilla, Progressive macrocephaly, Micrognathia |
OMIM:615109 |
Congenital Toxoplasmosis |
|
Microphthalmia |
ORPHA:858 |
Opsismodysplasia |
|
Short nose, Depressed nasal bridge |
ORPHA:2746 |
Refsum Disease |
|
Microphthalmia, Anosmia, Ptosis |
ORPHA:773 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Epicanthus, Micrognathia, Underdeveloped nasal alae, Pyloric stenosis, Wide nasal bridge, Cleft p... |
ORPHA:83617 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ... |
OMIM:120200 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Micrognathia, Underdeveloped nasal alae, Cleft palate, Upslanted palpeb... |
OMIM:134780 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, D... |
ORPHA:534 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microretrognathia, Epicanthus, Depressed nasal bridge, Wide nasal bridge, High palate |
OMIM:619418 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Epicanthus, Upslanted palpebral fissure, Hypoplasia of the small intestine, Sh... |
OMIM:200995 |
Peroxisome Biogenesis Disorder 1B |
|
Epicanthus, Wide nasal bridge, Convex nasal ridge |
OMIM:601539 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Hyperintensity of cerebral white matter on MRI, Cyanosis, Ptosis |
OMIM:617239 |
Diamond-Blackfan Anemia |
|
Epicanthus, Depressed nasal bridge, Cleft soft palate, Micrognathia, Cleft lip, Wide nasal bridge... |
ORPHA:124 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Short nose, Epistaxis |
OMIM:277450 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Cleft soft palate, Prominent nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Pyloric st... |
ORPHA:268261 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Carious teeth, High palate, Long philtrum... |
ORPHA:536467 |
Acro-Renal-Ocular Syndrome |
|
Epicanthus, Aganglionic megacolon, Optic disc hypoplasia, Optic disc coloboma, Coloboma, Choriore... |
ORPHA:959 |
Galloway-Mowat Syndrome 3 |
|
Epicanthus, Micrognathia, Hiatus hernia, High palate, Narrow mouth, Microphthalmia, Downslanted p... |
OMIM:617729 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Telecanthus, Accessory oral frenulum, Hamartoma of tongue, Supernumerary tooth... |
ORPHA:434179 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Double Outlet Right Ventricle |
|
Narrow palpebral fissure, Cyanosis |
ORPHA:3426 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Dental crowding, Aganglionic megacolon, Cleft upper lip, High, narrow palate, Recta... |
OMIM:309800 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Epicanthus, Wide nose, Depressed nasal bridge, Cleft upper lip, Micrognathia, Esophageal atresia,... |
ORPHA:93271 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Patent ductus arteriosus |
ORPHA:290 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Depressed nasal bridge, Short lingual frenulum, Wide nasal bridge, Widely spaced teeth, Long phil... |
OMIM:619479 |
Yunis-Varon Syndrome |
|
Narrow nasal base, Sparse eyelashes, Anteverted nares, Premature loss of primary teeth, Micrognat... |
ORPHA:3472 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Epicanthus, Aplasia of the nasal bone, Anteverte... |
ORPHA:93357 |
Acute Interstitial Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:79126 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:100300 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Short nose, Thick vermilion border, Long philtrum |
OMIM:252150 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Wide nose, Abnormal dental morphology, Recurrent upper respiratory tract infections... |
ORPHA:217085 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Depressed nasal bridge, Micrognathia, Wide anterior fontanel, Depressed nasal ridge, Progressive ... |
OMIM:271665 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Hypoxemia, Death in infancy, Cyanosis, Neonatal death |
OMIM:610921 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Wide nose, Abnormal dental morphology, Recurrent upper respiratory tract infections... |
ORPHA:217093 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis |
ORPHA:860 |
Cartilage-Hair Hypoplasia |
|
Sparse eyebrow, Sparse eyelashes, Brachycephaly |
OMIM:250250 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Abnormal ethmoid bone morphology, Prominent nose, Abnormal mandible condylar process morphology, ... |
ORPHA:2976 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Epicanthus, Reduced cerebral white matter volume, Microcephaly, Synophrys, Perisylvian polymicrog... |
OMIM:610442 |
Primrose Syndrome |
|
Epicanthus, Calcification of the auricular cartilage, Anteverted nares, Depressed nasal bridge, B... |
OMIM:259050 |
Meier-Gorlin Syndrome 1 |
|
Death in infancy, Micrognathia, Hypoplasia of the maxilla, Blepharophimosis, Cleft palate, Thick ... |
OMIM:224690 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Epicanthus, Abnormal dental morphology, Prominent nasal bridge, Spina bifida, Underdeveloped nasa... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Epicanthus, Abnormal dental morphology, Prominent nasal bridge, Spina bifida, Underdeveloped nasa... |
ORPHA:363958 |
Thrombocytopenia-Absent Radius Syndrome |
|
Death in infancy, Cerebellar vermis hypoplasia, Spina bifida, Brachycephaly, Cerebellar hypoplasi... |
OMIM:274000 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia, Iris coloboma |
OMIM:269400 |
Neonatal Marfan Syndrome |
|
High, narrow palate, Downslanted palpebral fissures, Wide nasal bridge, Micrognathia |
ORPHA:284979 |
X-Linked Intellectual Disability, Snyder Type |
|
Unilateral ptosis, Megalencephaly, Sparse eyebrow, Synophrys, Brachycephaly, Upslanted palpebral ... |
ORPHA:3063 |
Osteogenesis Imperfecta, Type Xi |
|
Brachycephaly |
OMIM:610968 |
Coffin-Siris Syndrome 1 |
|
Frontal bossing, Dandy-Walker malformation, Cutis marmorata, Aggressive behavior, Microcephaly, P... |
OMIM:135900 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Micrognathia, Wide nasal bridge, Cleft palate, Narrow mouth, Bifid uvula |
OMIM:130070 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Brachycephaly, Thick eyebrow |
OMIM:608980 |
Myasthenia Gravis |
|
Acrocyanosis, Dysphagia, Ptosis |
ORPHA:589 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia, Narrow mouth |
OMIM:614833 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Perianal abscess, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Wide na... |
OMIM:612541 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Microcephaly |
ORPHA:159 |
1P36 Deletion Syndrome |
|
Abnormal eyebrow morphology, Epicanthus, Frontal bossing, Microcephaly, Polyphagia, Brachycephaly... |
ORPHA:1606 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Partial agenesis of the corpus callosum, Cyanosis, Microcephaly |
OMIM:617478 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Death in infancy, Cyanosis, Microcephaly, Cerebral atrophy, Death in childhood, Global brain atrophy |
OMIM:618426 |
Smith-Lemli-Opitz Syndrome |
|
Microretrognathia, Death in infancy, Epicanthus, Aganglionic megacolon, Dental crowding, Intestin... |
OMIM:270400 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Absent eyebrow, Sparse eyelashes, Poor wound healing, Sparse eyebrow, Meningocele, Facial erythema |
ORPHA:1010 |
Cockayne Syndrome B |
|
Mandibular prognathia, Slender nose, Prominent nasal bridge, Delayed eruption of primary teeth, C... |
OMIM:133540 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Epicanthus, Wide nasal bridge |
OMIM:618569 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Death in childhood, Patent ductus arteriosus, Cleft palate, Cleft upper lip |
OMIM:600460 |
Mucopolysaccharidosis Type 2 |
|
Otosclerosis, Wide nose, Recurrent upper respiratory tract infections, Temporomandibular joint an... |
ORPHA:580 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Spina bifida |
ORPHA:1120 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, High palate |
OMIM:619053 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Poor wound healing, Hydrocephalus, Brachycephaly, Abnormal temper tantrums, Hypoplasia of the cor... |
ORPHA:2072 |
Aicardi-Goutières Syndrome |
|
Cerebral calcification, Cutis marmorata, Microcephaly, Porencephalic cyst, Multifocal cerebral wh... |
ORPHA:51 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Cyanosis |
ORPHA:439 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Micrognathia, Prominent nose, Deep philtrum, Synophrys, D... |
OMIM:619503 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Erythema, Acrocyanosis, Purpura |
ORPHA:343 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis |
OMIM:610910 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Thin upper lip vermilion, Epicanthus, Anteverted nares, Deep philtrum, Wide nasal bridge |
OMIM:617641 |
Otopalatodigital Syndrome, Type Ii |
|
Frontal bossing, Depressed nasal bridge, Spina bifida, Micrognathia, Wide anterior fontanel, Hydr... |
OMIM:304120 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Microcephaly, Brachycephaly, Neuronal loss in the cerebral cortex, Plagiocephaly, Cerebral cortic... |
OMIM:301072 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Epicanthus, Brachycephaly, Attention deficit hyperactivity disorder |
OMIM:618223 |
Pallister-Hall Syndrome |
|
Microretrognathia, Natal tooth, Anteverted nares, Choanal atresia, Accessory oral frenulum, Cleft... |
ORPHA:672 |
Turnpenny-Fry Syndrome |
|
Frontal bossing, Cerebellar vermis hypoplasia, Microcephaly, Brachycephaly, Plagiocephaly, Narrow... |
OMIM:618371 |
X-Linked Intellectual Disability, Armfield Type |
|
Epicanthus, Brachycephaly, Midface retrusion, Downslanted palpebral fissures, Cerebral cortical a... |
ORPHA:85276 |
Dominant Beta-Thalassemia |
|
Depressed nasal bridge, Malar prominence, Abnormality of the dentition, Upslanted palpebral fissu... |
ORPHA:231226 |
Sepsis In Premature Infants |
|
Jaundice, Cyanosis, Petechiae, Purpura |
ORPHA:90051 |
Pulmonary Arteriovenous Malformation |
|
Hypoxemia, Cyanosis, Ischemic stroke, Telangiectasia |
ORPHA:2038 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Occipital encephalocele, Telecanthus, Hamartoma of tongue, Microg... |
OMIM:615948 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Frontal bossing, Turricephaly, Craniosynostosis, Hydrocephalus, Brachycephaly, Stillbirth, Midfac... |
ORPHA:95699 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Brachycephaly |
OMIM:156400 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Chronic gastritis, Thin upper lip vermilion, Ptosis, Micrognathia, Carious... |
OMIM:150230 |
Ear-Patella-Short Stature Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Submucous cleft hard palate, Cleft ... |
ORPHA:2554 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Cleft palate, High palate, Microphthalmia, Microglossia, Bifid uvula |
OMIM:607932 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Orofaci... |
ORPHA:464 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Widely spaced teeth, Iris coloboma, Bi... |
ORPHA:2152 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, Bifid uvula, Anteverted nares, ... |
OMIM:601803 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Anteverted nares, Depressed nasal bridge, Macroglossia, Choanal ... |
OMIM:269150 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Short philtrum, Iris coloboma, Bifid u... |
ORPHA:261537 |
Cardiospondylocarpofacial Syndrome |
|
Epicanthus, Telecanthus, Anteverted nares, Bulbous nose, Wide nasal bridge, Hypoplastic nasal tip... |
OMIM:157800 |
Ethylene Glycol Poisoning |
|
Cyanosis, Addictive alcohol use, Cerebral edema |
ORPHA:31826 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Cutis marmorata, Urticaria, Dysphagia, Acrocyanosis, Purpura |
ORPHA:183 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Secondary microcephaly, Brachycephaly, Progressive microcephaly, Midface retrusion |
OMIM:616263 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Lacrimal duct atresia, Delayed eruption of primary teeth |
OMIM:300952 |
Frank-Ter Haar Syndrome |
|
Flat occiput, Downslanted palpebral fissures, Brachycephaly, Hypoplasia of the corpus callosum |
OMIM:249420 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Short philtrum, Iris coloboma, Bifid u... |
ORPHA:261552 |
Knobloch Syndrome 1 |
|
Occipital encephalocele, Epicanthus, Telecanthus, Absent septum pellucidum, Microcephaly, Polymic... |
OMIM:267750 |
Pitt-Hopkins Syndrome |
|
Aggressive behavior, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Upslanted palpebral... |
ORPHA:2896 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Esophageal stenosis, Abnormality of the dentition, Carious teeth, Ma... |
ORPHA:1775 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Frontal bossing, Progeroid facial appearance, Sparse eyebrow, Brachycephaly, Death in childhood, ... |
OMIM:619127 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Unilateral Polymicrogyria |
|
Cyanosis, Microcephaly, Cortical dysplasia, Perisylvian polymicrogyria, Pseudobulbar paralysis |
ORPHA:268943 |
Beta-Thalassemia Major |
|
Depressed nasal bridge, Malar prominence, Abnormality of the dentition, Upslanted palpebral fissu... |
ORPHA:231214 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Cyanosis |
ORPHA:747 |
Papillorenal Syndrome |
|
Orbital cyst, Microphthalmia, Optic disc coloboma, Retinal coloboma |
OMIM:120330 |
Trichothiodystrophy |
|
Epicanthus, Hypoplasia of mandible relative to maxilla, Carious teeth, High, narrow palate, Bilat... |
ORPHA:33364 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia, Cryptophthalmos, Ankyloblepharon |
OMIM:123570 |
Léri-Weill Dyschondrosteosis |
|
Depressed nasal bridge, Wide nasal bridge |
ORPHA:240 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Microglossia |
OMIM:263520 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cleft palate, Anteriorly placed anus, Colonic atresia, Microphthalmia, Iris coloboma, Anal atresia |
OMIM:309801 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Wide nose, Prominent nasal bridge, Micrognathia, Promin... |
OMIM:606170 |
Smith-Mccort Dysplasia 1 |
|
Hypoplastic facial bones, Dolichocephaly, Microcephaly |
OMIM:607326 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Williams-Beuren Syndrome |
|
Colonic diverticula, Medial flaring of the eyebrow, Epicanthus, Anteverted nares, Depressed nasal... |
OMIM:194050 |
Floating-Harbor Syndrome |
|
Narrow nasal bridge, Persistence of primary teeth, Celiac disease, Carious teeth, Hypoplasia of t... |
ORPHA:2044 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cyanosis, Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Cerebellar hypoplasia |
OMIM:306955 |
Adams-Oliver Syndrome |
|
Encephalocele, Microphthalmia, Esophageal varix |
ORPHA:974 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
Norrie Disease |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Hyp... |
ORPHA:649 |
Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Cyanosis, Agenesis of corpus callosum |
ORPHA:137675 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Anal atresia, Agenesis of permanent teeth |
OMIM:617244 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Telecanthus, Iris coloboma |
ORPHA:2612 |
Osteopetrosis With Renal Tubular Acidosis |
|
Cerebral calcification, Basal ganglia calcification, Brachycephaly, Plagiocephaly, Abnormal periv... |
ORPHA:2785 |
Hardikar Syndrome |
|
Lacrimal duct stenosis, Cleft soft palate, Intestinal malrotation, Celiac disease, Patent ductus ... |
OMIM:301068 |
Cockayne Syndrome Type 3 |
|
Carious teeth, Keratoconjunctivitis sicca, Microphthalmia, Enamel hypoplasia, Narrow nose |
ORPHA:90324 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hydrocephalus, Cyanosis |
OMIM:261740 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Microphthalmia, Iris coloboma |
OMIM:221900 |
Pulmonary Capillary Hemangiomatosis |
|
Hypoxemia, Cyanosis |
ORPHA:199241 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system, Hypoplas... |
OMIM:609049 |
Criss-Cross Heart |
|
Cyanosis |
ORPHA:1461 |
Peroxisome Biogenesis Disorder 4B |
|
Short nose |
OMIM:614863 |
Common Variable Immunodeficiency |
|
Brachycephaly, Purpura |
ORPHA:1572 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Synophrys, Depressed nasal bridge, Wide nasal bridge |
ORPHA:447997 |
Xeroderma Pigmentosum, Complementation Group D |
|
Entropion, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Ectropion |
OMIM:278730 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Hypoplasia of the fovea, Conical tooth, Oligodontia, Hypodontia, Micro... |
OMIM:308300 |
Esophageal Atresia |
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Oral aversion, Cyanosis, Dysphagia |
ORPHA:1199 |
Congenital Tricuspid Valve Dysplasia |
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Hypoxemia, Cyanosis |
ORPHA:555874 |
Acromesomelic Dysplasia 1 |
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Short nose |
OMIM:602875 |
Anterior Segment Dysgenesis 5 |
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Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Dyggve-Melchior-Clausen Disease |
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Mandibular prognathia, Thickened calvaria, Hypoplastic facial bones, Microcephaly |
OMIM:223800 |
Cockayne Syndrome |
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Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, Dental malocclusion... |
ORPHA:191 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Microphthalmia, Coloboma |
ORPHA:85167 |
Osteogenesis Imperfecta |
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Hydrocephalus, Noncommunicating hydrocephalus, Brachycephaly, Prominent occiput, Dysphagia, Umbil... |
ORPHA:666 |
Idiopathic Uveal Effusion Syndrome |
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Microphthalmia |
ORPHA:209956 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
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Hypoxemia, Cyanosis |
OMIM:610913 |
Fanconi Anemia, Complementation Group I |
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Microphthalmia, Optic nerve hypoplasia |
OMIM:609053 |
Encephalocraniocutaneous Lipomatosis |
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Limbal dermoid, Hypoplasia of the iris, Eyelid coloboma, Microphthalmia |
OMIM:613001 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Cyanosis, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Polydipsia, Polyphagia |
ORPHA:293987 |
Syndromic Diarrhea |
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Villous atrophy, Gastritis, Patent ductus arteriosus, Wide nasal bridge, Colitis |
ORPHA:84064 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
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Conjunctival telangiectasia, Cyanosis, Lip telangiectasia, Tongue telangiectasia, Ischemic stroke... |
OMIM:610655 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Death in infancy, Anteverted nares, Highly arched eyebrow, Micrognathia, Wide nasal bridge, Anter... |
OMIM:220111 |
Pagod Syndrome |
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Encephalocele, Death in infancy, Spina bifida, Microcephaly, Meningocele |
ORPHA:991 |
Down Syndrome |
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Upslanted palpebral fissure, Epicanthus, Brachycephaly |
OMIM:190685 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Misca... |
OMIM:187300 |
Phace Syndrome |
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Optic nerve hypoplasia, Lens coloboma, Abnormality of the orbital region, Microphthalmia, Iris co... |
ORPHA:42775 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Fingerpad telangiectases, Lip tel... |
OMIM:600376 |
Complete Atrioventricular Septal Defect |
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Cyanosis |
ORPHA:1329 |
Cardiac Valvular Dysplasia 2 |
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Central cyanosis |
OMIM:620067 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Encephalocele, Microphthalmia |
OMIM:253800 |
Classical Ehlers-Danlos Syndrome |
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Epicanthus, Prematurely aged appearance, Poor wound healing, Dermatochalasis, Blepharochalasis, U... |
ORPHA:287 |
Arima Syndrome |
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Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hypoplasia of the brainstem, Occipit... |
OMIM:243910 |
Lumbar Syndrome |
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Myelomeningocele, Spina bifida |
ORPHA:83628 |
Exudative Vitreoretinopathy 2, X-Linked |
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Microphthalmia |
OMIM:305390 |
Hutchinson-Gilford Progeria Syndrome |
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Absent eyebrow, Prominent superficial blood vessels, Cyanosis, Nocturnal lagophthalmos, Loss of e... |
ORPHA:740 |
Heterotaxy, Visceral, 7, Autosomal |
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Cyanosis |
OMIM:616749 |
Viss Syndrome |
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Ptosis, Prominent superficial blood vessels, Frontal bossing, Dolichocephaly, Microcephaly, Brach... |
OMIM:619472 |
Microcephaly 20, Primary, Autosomal Recessive |
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Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Epicanthus, Wide nasal bridge, Narrow palate, High palate, Occipital meningocele |
OMIM:276820 |
Vitreoretinochoroidopathy |
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Microphthalmia |
OMIM:193220 |
Cornea Plana 2, Autosomal Recessive |
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Microphthalmia |
OMIM:217300 |
Fibrous Dysplasia Of Bone |
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Abnormal zygomatic bone morphology, Abnormal facial skeleton morphology, Abnormal mandible morpho... |
ORPHA:249 |
Aspartylglucosaminuria |
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Microcephaly, Brachycephaly, Cerebral atrophy, Angiokeratoma corporis diffusum, Thickened calvaria |
OMIM:208400 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis |
ORPHA:99106 |
Pulmonary Alveolar Microlithiasis |
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Hypoxemia, Cyanosis, Oxygen desaturation on exertion |
ORPHA:60025 |
Marfan Syndrome |
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Micrognathia, Abnormal zygomatic bone morphology, Meningocele, Dolichocephaly, Retrognathia |
ORPHA:558 |
Familial Exudative Vitreoretinopathy |
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Microphthalmia |
ORPHA:891 |
Phace Association |
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Microphthalmia, Patent ductus arteriosus, Optic nerve hypoplasia, Horner syndrome |
OMIM:606519 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Fanconi Anemia, Complementation Group F |
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Microphthalmia, Patent ductus arteriosus, Duodenal atresia |
OMIM:603467 |
Postinfectious Vasculitis |
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Palpable purpura, Cutis marmorata, Anorexia, Ischemic stroke, Vasculitis in the skin, Acrocyanosis |
ORPHA:48435 |
Poems Syndrome |
|
Acrocyanosis |
ORPHA:2905 |
Fanconi Anemia, Complementation Group D2 |
|
Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistula, Blepharophimosis, Microp... |
OMIM:227646 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Neonatal death, Brachycephaly |
OMIM:265380 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida |
ORPHA:2874 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis |
ORPHA:99104 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Acrocyanosis |
OMIM:223900 |
Dermatomyositis |
|
Telangiectasia of the skin, Abnormal eyelid morphology, Erythema, Acrocyanosis, Cutaneous photose... |
ORPHA:221 |
Congenital Tracheomalacia |
|
Cyanosis |
ORPHA:95430 |
Penile Agenesis |
|
Depressed nasal bridge, Rectal fistula, Tracheoesophageal fistula, Short nose, Anal atresia |
ORPHA:49 |
Familial Dysautonomia |
|
Acrocyanosis |
ORPHA:1764 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida, Lisch nodules |
OMIM:162200 |
Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis |
ORPHA:99103 |
Townes-Brocks Syndrome |
|
Rectoperineal fistula, Blepharophimosis, Patent ductus arteriosus, Anteriorly placed anus, Wide m... |
ORPHA:857 |
Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Carious teeth, Hypoplasia of the maxilla, Eruption failure, Short denta... |
OMIM:182250 |
Lipodystrophy, Familial Partial, Type 7 |
|
Short nose, Narrow nasal ridge, Narrow mouth |
OMIM:606721 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Epicanthus |
OMIM:227645 |
Cardiac-Urogenital Syndrome |
|
Patent ductus arteriosus, Wide nasal bridge, Intestinal malrotation, Patent urachus |
OMIM:618280 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Carious teeth, Bilateral microphthalmos, Calvarial osteosclerosis, Persistence of primary teeth |
ORPHA:93325 |
Double Outlet Left Ventricle |
|
Cyanosis |
ORPHA:3427 |
Absence Of The Pulmonary Artery |
|
Cyanosis, Hypocapnia |
ORPHA:980 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Frontal bossing, Cloverleaf skull, Craniosynostosis, Microcephaly, Brachycephaly, Midface retrusion |
OMIM:201750 |
Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis |
ORPHA:99050 |
Hypermobile Ehlers-Danlos Syndrome |
|
Epicanthus, Keratoconjunctivitis sicca, Umbilical hernia, Acrocyanosis, Ptosis |
ORPHA:285 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
Primary Hyperoxaluria |
|
Acrocyanosis, Cutis marmorata |
ORPHA:416 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia |
OMIM:600901 |
Fanconi Anemia, Complementation Group A |
|
Microphthalmia |
OMIM:227650 |
Yunis-Varon Syndrome |
|
Thin upper lip vermilion, Epicanthus, Sparse eyelashes, Anteverted nares, Premature loss of prima... |
OMIM:216340 |
Congenital Tracheal Stenosis |
|
Cyanosis |
ORPHA:141127 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Aortic Arch Interruption |
|
Cyanosis |
ORPHA:2299 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
Eisenmenger Syndrome |
|
Hypoxemia, Cyanosis |
ORPHA:97214 |
Generalized Arterial Calcification Of Infancy |
|
Cerebral calcification, Cyanosis, Encephalomalacia |
ORPHA:51608 |
Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia, Enamel hypoplasia |
OMIM:309000 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Microcephaly, Spina bifida, Abnormality of the orbital region |
ORPHA:322 |
Truncus Arteriosus |
|
Cyanosis |
ORPHA:3384 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis |
ORPHA:216694 |
Vater/Vacterl Association |
|
Occipital encephalocele, Abnormal nasopharynx morphology, Choanal atresia, Spina bifida, Patent u... |
OMIM:192350 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi |
OMIM:259770 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia |
OMIM:127000 |
Goodpasture Syndrome |
|
Cyanosis |
OMIM:233450 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300106 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Cyanosis |
ORPHA:99125 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:175780 |