Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Deafness-Oligodontia Syndrome |
|
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment |
ORPHA:3230 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Opticocochleodentate Degeneration |
|
Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Redundant neck skin, Anteverted nares, Single transverse palmar crease, Narrow... |
OMIM:236500 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Absent tragus, Overfolded helix... |
ORPHA:79113 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Wid... |
OMIM:619736 |
Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... |
OMIM:611584 |
Intellectual Disability, Birk-Barel Type |
|
Narrow nasal bridge, Hyperactivity, Tented upper lip vermilion, Foot joint contracture, Spinal mu... |
ORPHA:166108 |
Otodental Syndrome |
|
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Anteverted nares, Abn... |
ORPHA:2791 |
Chromosome 16Q22 Deletion Syndrome |
|
Prominent metopic ridge, Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Wide ant... |
OMIM:614541 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Sensorineural hearing impairme... |
OMIM:166750 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Low-set... |
ORPHA:1908 |
Lissencephaly, X-Linked, 2 |
|
Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Feeding difficulties in infancy, ... |
OMIM:300215 |
Rubinstein-Taybi Syndrome 2 |
|
Hyperactivity, Posteriorly rotated ears, Intestinal malrotation, Micrognathia, Carious teeth, Pro... |
OMIM:613684 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Anteverted nar... |
ORPHA:2412 |
Deafness, Autosomal Dominant 9 |
|
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment |
OMIM:601369 |
Autism, Susceptibility To, 20 |
|
Impaired social interactions |
OMIM:618830 |
Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Ataxia, Craniosynostosis, Anteverted nares, Wide anterio... |
OMIM:601853 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Micrognathia, Short neck, Microcep... |
ORPHA:2570 |
Acrocraniofacial Dysostosis |
|
Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Abnormality of the malleus, ... |
ORPHA:949 |
Recon Progeroid Syndrome |
|
Attached earlobe, Skeletal muscle atrophy, Prominence of the premaxilla, Joint laxity, Anteverted... |
OMIM:620370 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Micrognathia, Split hand, Abnormality of the ear, Cleft palate, Split foot, Malar... |
OMIM:183700 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Posteriorly rotated ears, Anteverted nares, Micrognathia, Dyspnea, Large fo... |
ORPHA:1832 |
Larsen-Like Syndrome |
|
Joint laxity, Joint dislocation, Kyphoscoliosis, Wide anterior fontanel, Dental malocclusion, Cle... |
OMIM:608545 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Natal tooth, Mandibular prognathia, Dental crowding, Microdontia, Carious teeth, Wide... |
OMIM:269300 |
Hydrolethalus Syndrome 2 |
|
Micrognathia, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foo... |
OMIM:614120 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Conductive hearing... |
OMIM:136760 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Death in infancy, Large posterior fontanelle, Posteriorly rotated ears, Wide anterior fontanel, F... |
OMIM:614872 |
Mullegama-Klein-Martinez Syndrome |
|
Micrognathia, Prominent nose, Short philtrum, Bifid uvula, Depressed nasal bridge, Cleft lip, Wid... |
OMIM:301022 |
48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Abnormal dental enamel morphology, Carious teeth, Open bite... |
ORPHA:10 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Anteverted nares, Depressed nasal bridge, Ovoid vertebral bodies,... |
ORPHA:163649 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Abnormal vertebral segme... |
ORPHA:915 |
Lowry-Maclean Syndrome |
|
Osteopenia, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxilla, High, narro... |
ORPHA:2409 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Single transverse palmar crease, Micrognathia, Anteriorly placed anus, High palate, Advanced erup... |
OMIM:619148 |
Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Feeding difficulties in infancy, Wide anterior fontanel, Wide nasal bridge, Epiphyseal stippling,... |
OMIM:614859 |
Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent protruding coccyx, Abnormal form of the... |
ORPHA:2839 |
Czeizel-Losonci Syndrome |
|
Single transverse palmar crease, Micrognathia, High palate, Spina bifida occulta, Prominent antit... |
ORPHA:2437 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormal hair quantity, Abnormality of the knee, Brachydactyly, Rhizomelia, Depressed nasal bridg... |
ORPHA:3098 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Cleft palate, Abnormal... |
ORPHA:2145 |
Snijders Blok-Campeau Syndrome |
|
Joint laxity, Prominent nose, Wide nasal bridge, Taurodontia, High palate, Widely spaced teeth, L... |
OMIM:618205 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Convex... |
ORPHA:87 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Posteriorly rotated ears, Micrognathia, Underdeveloped nasal alae, Wide anterior fontanel, Flexio... |
OMIM:263210 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Absent septum pellucidum, Micromelia, Micrognathia, Hydrocepha... |
ORPHA:2189 |
Branchiootic Syndrome |
|
Branchial fistula, Facial palsy, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnorma... |
ORPHA:52429 |
Charlie M Syndrome |
|
Finger syndactyly, Micrognathia, Split hand, Wide nasal bridge, Triphalangeal thumb, Abnormal met... |
ORPHA:1406 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Abnormal form of the vertebral b... |
ORPHA:819 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Scoliosis, Hypopl... |
OMIM:614753 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Depressed nasal bridge, Down-sloping... |
ORPHA:96264 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ... |
OMIM:259420 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... |
OMIM:300614 |
Atkin-Flaitz Syndrome |
|
Anteverted nares, Abnormality of the dentition, Broad nasal tip, Everted lower lip vermilion, Thi... |
ORPHA:1193 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
17Q21.31 Microduplication Syndrome |
|
Anteverted nares, Micrognathia, Abnormality of the dentition, High palate, Short philtrum, Compul... |
ORPHA:217340 |
Cousin Syndrome |
|
Micrognathia, Short neck, Prominent protruding coccyx, Low anterior hairline, Hypoplastic iliac w... |
OMIM:260660 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxi... |
OMIM:601390 |
Moebius Syndrome |
|
Syndactyly, Abnormal nasopharynx morphology, Brachydactyly, Depressed nasal bridge, Abnormal pinn... |
OMIM:157900 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... |
OMIM:137550 |
Distal Deletion 10Q |
|
Micrognathia, Prominent nose, Protruding ear, High palate, Spina bifida occulta, Prominent metopi... |
ORPHA:96148 |
Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Anteverted nares, Optic nerve hypoplasia, Short neck, Broad nas... |
OMIM:615583 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Optic atrophy, Protruding ear,... |
OMIM:618737 |
Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Anteriorly placed an... |
OMIM:602535 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Wide anterior fontanel, Kyphosis, Protube... |
OMIM:618272 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Congenital hip dislocation, Anteverted nares, Carious teeth, Wide anterior fontanel, Feeding diff... |
OMIM:219200 |
Bartsocas-Papas Syndrome 2 |
|
Accessory oral frenulum, Micrognathia, Wide anterior fontanel, Antecubital pterygium, Bilateral c... |
OMIM:619339 |
Lujan-Fryns Syndrome |
|
Dental crowding, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Pectus excavatum,... |
ORPHA:776 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Median cleft lip, Abnormality of orbicularis oris muscle, Cleft upper lip, D... |
ORPHA:401942 |
Spastic Paraplegia 70, Autosomal Recessive |
|
Skeletal muscle atrophy, Micrognathia, Sensorineural hearing impairment, Achilles tendon contract... |
OMIM:620323 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Attached earlobe, Abnormal form of the vertebral bodies, Pectus carinatum,... |
ORPHA:1327 |
Catifa Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Cleft lip, Cleft palate, Microtia, Increased overbit... |
OMIM:618761 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Zellweger Syndrome |
|
Death in infancy, Depressed nasal bridge, Micrognathia, Feeding difficulties in infancy, Wide ant... |
ORPHA:912 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent nose, Microce... |
OMIM:614886 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Narrow nasal bridge, Abnormal dental enamel morphology, Elbow dislocation, Aplasia/Hypoplasia of ... |
ORPHA:3236 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxi... |
OMIM:615546 |
20P12.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow mouth, Wide nasal bridge, Pectus carina... |
ORPHA:261295 |
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Short 5th finger, Low-set ears, Scolios... |
OMIM:618608 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Camptodactyly of fin... |
ORPHA:1703 |
Sweeney-Cox Syndrome |
|
Uplifted earlobe, Micrognathia, High palate, Gastroesophageal reflux, Short philtrum, Median clef... |
OMIM:617746 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... |
ORPHA:971 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Split hand, Cleft palate... |
OMIM:246560 |
Crouzon Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Narrow palate, Multiple... |
ORPHA:207 |
Cranioectodermal Dysplasia |
|
Anteverted nares, Abnormal dental enamel morphology, Rhizomelia, Abnormality of the dentition, Pe... |
ORPHA:1515 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Posteriorly rotated ears, Micrognathia, Prominent nose, Wide anterior fontanel, Wide nasal bridge... |
OMIM:201170 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Prominent nasal bridge, Aggressive behavior, Hypoplasia of the maxilla, ... |
ORPHA:85279 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge, Protruding ear |
OMIM:618302 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Down-sloping... |
ORPHA:96263 |
Lateral Meningocele Syndrome |
|
Decreased muscle mass, Dental crowding, Micrognathia, High palate, Conductive hearing impairment,... |
OMIM:130720 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... |
OMIM:303110 |
Cranioectodermal Dysplasia 4 |
|
Anteverted nares, Joint hypermobility, Sagittal craniosynostosis, Pectus excavatum, Protruding ea... |
OMIM:614378 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... |
OMIM:609166 |
Progeroid Syndrome, Petty Type |
|
Mandibular prognathia, Low-set, posteriorly rotated ears, Wide anterior fontanel, Tooth agenesis,... |
ORPHA:2963 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Torticollis, Prominent nasal bridge, Hypoplasia of the musculature,... |
OMIM:265050 |
Fibrochondrogenesis 1 |
|
Abnormal pinna morphology, Anteverted nares, Depressed nasal bridge, Wide anterior fontanel, Narr... |
OMIM:228520 |
Short-Rib Thoracic Dysplasia 12 |
|
Short neck, Bowing of the legs, Lobulated tongue, Holoprosencephaly, Short palm, Neonatal death, ... |
OMIM:269860 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Thoracic kyphoscoliosis, Generalized hypoplasia of dental enamel, Prominent nose, Carious teeth, ... |
OMIM:203550 |
Heart And Brain Malformation Syndrome |
|
Attached earlobe, Prominent metopic ridge, Posteriorly rotated ears, Camptodactyly of finger, Ant... |
OMIM:616920 |
Marden-Walker Syndrome |
|
Anteverted nares, Micrognathia, Wide anterior fontanel, High, narrow palate, Pyloric stenosis, Na... |
OMIM:248700 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Stapes ankylosis, Anteverted nares, Intestinal malrotation, Velopharyng... |
OMIM:614701 |
Acrootoocular Syndrome |
|
Micrognathia, High, narrow palate, Conductive hearing impairment, Anodontia, Small hypothenar emi... |
ORPHA:2980 |
7Q31 Microdeletion Syndrome |
|
Hyperactivity, Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Nasogastric tube feed... |
ORPHA:251061 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the middle ear ossicles, Non-midline cleft lip, S... |
ORPHA:2549 |
Bor Syndrome |
|
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... |
ORPHA:107 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in inf... |
OMIM:182212 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Posteriorly rotated ears, Narrow mouth, Cleft palate, Thin vermilion border, Low-set ears, Long p... |
OMIM:615502 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Ulnar dev... |
ORPHA:1529 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Opitz-Kaveggia Syndrome |
|
Single transverse palmar crease, Micrognathia, Prominent nose, Short neck, Partial agenesis of th... |
OMIM:305450 |
Lateral Meningocele Syndrome |
|
Dental crowding, Micrognathia, High, narrow palate, Abnormal form of the vertebral bodies, High p... |
ORPHA:2789 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Skeletal muscle atrophy, Posteriorly rotated ears, Micrognathia, Kyphosis, Wide... |
OMIM:618393 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Abnormality of the gingiva, Anteriorly placed anus, C... |
ORPHA:798 |
Pycnodysostosis |
|
Abnormal clavicle morphology, Obtuse angle of mandible, Persistent open anterior fontanelle, Micr... |
ORPHA:763 |
Momo Syndrome |
|
Delayed eruption of teeth, Underfolded helix, Thick lower lip vermilion, Dental malocclusion, Wid... |
OMIM:157980 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
Rhizomelic Syndrome |
|
Wide anterior fontanel, Hip dislocation, Micrognathia |
OMIM:268250 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Papilledema, Thickened ribs, Depressed nasal br... |
OMIM:122860 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Irregular vertebral endplates, Knee dislocation, High palate... |
OMIM:618363 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Wi... |
ORPHA:2863 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Abnormal pinna morphology, Anteverted nares,... |
OMIM:217980 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Micrognathia, Protruding ear, High palate, Short philtrum, Abnormal repetitive m... |
OMIM:618342 |
Zaki Syndrome |
|
Sparse scalp hair, Wide nose, Toe syndactyly, Anteverted nares, Cerebellar vermis hypoplasia, Mic... |
OMIM:619648 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Spontaneous neonatal pneumothorax, Delayed closure of the anterior font... |
OMIM:225410 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Micrognathia, High, narrow palate, High palate, Death in childhood, Loss of ambulation, Neonatal ... |
OMIM:214100 |
Momo Syndrome |
|
Delayed eruption of teeth, Underfolded helix, Thick lower lip vermilion, Dental malocclusion, Abn... |
ORPHA:2563 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... |
ORPHA:88661 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Ataxia, Aggressive behavior, Wide anterior ... |
ORPHA:457279 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea, Dental crowding, Micrognathia, Glossoptosis, Mandibular condyle apla... |
OMIM:614669 |
Distal Deletion 1Q |
|
Depressed nasal bridge, Micrognathia, Thin vermilion border, Low-set ears, Smooth philtrum |
ORPHA:36367 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Thoracolumbar scoliosis, Wide anterior fontanel, Hemivertebrae, Delayed eruptio... |
OMIM:113000 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Abnormal form of the ve... |
ORPHA:93262 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased sensory nerve condu... |
OMIM:218000 |
Tetrasomy 5P |
|
Respiratory distress, Posteriorly rotated ears, Anteverted nares, Micrognathia, Wide anterior fon... |
ORPHA:3309 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Abnormality of the ear, Abnorm... |
ORPHA:2710 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Pectus... |
ORPHA:192 |
Eem Syndrome |
|
Finger syndactyly, Absent eyebrow, Sparse scalp hair, Carious teeth, Ectrodactyly, Sparse body hair |
ORPHA:1897 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Joint laxity, Facial hypotonia, Abnormality of muscle size, Uplifted earlo... |
ORPHA:364028 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Wide nose, Congenital hip dislocation, Posteriorly rotated ears, Left ventricular hypertrophy, Li... |
OMIM:300280 |
Neonatal Adrenoleukodystrophy |
|
Low-set, posteriorly rotated ears, Anteverted nares, Wide anterior fontanel, Sensorineural hearin... |
ORPHA:44 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola... |
ORPHA:2972 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Achondroplasia |
|
Short nasal bridge, Lumbar hyperlordosis, Anteverted nares, Depressed nasal bridge, Hip joint hyp... |
ORPHA:15 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Micrognathia, Clef... |
ORPHA:2015 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Wide cranial sutures, Dental crowding, Micrognathia, Hypoplasia of the... |
OMIM:257850 |
Mmep Syndrome |
|
Mandibular prognathia, Split foot, Triphalangeal thumb, Microcephaly |
ORPHA:3434 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Skeletal muscle atrophy, Hypoplasia of the maxilla, Flexion contracture, Hyperextensibility at wr... |
ORPHA:481152 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... |
OMIM:128980 |
Carey-Fineman-Ziter Syndrome 2 |
|
Thin upper lip vermilion, Dental crowding, Anteverted nares, Posteriorly rotated ears, Underdevel... |
OMIM:619941 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Cupped ear, Short philtrum, Macrotia |
ORPHA:93945 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Depressed nasal bridge, Recur... |
OMIM:613849 |
Anauxetic Dysplasia 3 |
|
Depressed nasal bridge, Thoracolumbar kyphoscoliosis, Wide anterior fontanel, Feeding difficultie... |
OMIM:618853 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Micrognathia, Nasogastric tube feeding in infancy, Dyspnea, Temporomandibul... |
ORPHA:141152 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Horner syndrome, Microt... |
OMIM:141300 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Trichodentoosseous Syndrome |
|
Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth |
OMIM:190320 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Finger syndactyly, Mandibular prognathia, Single transverse palmar crease, Ankle ... |
ORPHA:435938 |
Clark-Baraitser syndrome |
|
Joint laxity, Exaggerated median tongue furrow, Anteverted nares, Genu recurvatum, Broad nasal ti... |
OMIM:300602 |
20P13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Posteriorly rotated ears, Abnormal pinna mo... |
ORPHA:313781 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Rectal prolapse, Conical incisor, Oligodontia, Protein-losing enteropathy, Short palm, Conductive... |
OMIM:235510 |
Filippi Syndrome |
|
Underdeveloped nasal alae, Optic atrophy, Wide nasal bridge, Serrated incisors, Thin vermilion bo... |
OMIM:272440 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Persistent open anterior fontanelle, Congenital hip dislocation, Ataxia, Delayed cranial suture c... |
ORPHA:357058 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Wide anterior fontanel,... |
OMIM:620099 |
8Q22.1 Microdeletion Syndrome |
|
Underfolded helix, Abnormal pinna morphology, Camptodactyly of finger, Abnormality of the dentiti... |
ORPHA:178303 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Depressed nasal bridge, Micromelia, Hearing impairment, Hy... |
ORPHA:1860 |
Chromosome 22Q11.2 Duplication Syndrome |
|
Abnormal pinna morphology, Micrognathia, Velopharyngeal insufficiency, Depressed nasal ridge, Hig... |
OMIM:608363 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Beaking of vertebral bodies, Depressed nasal br... |
ORPHA:137834 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Cerebral calcification, Spina bifida, Micrognathia, Microcephaly, Kyphosis, Mye... |
ORPHA:1393 |
Dubowitz Syndrome |
|
Micrognathia, Rectal prolapse, Protruding ear, High palate, Spina bifida occulta, Low-set, poster... |
ORPHA:235 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Lumbar hyperlordosis, Broad nasal tip, Achi... |
OMIM:619719 |
Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Intestinal malrotation, Depressed nasal bridge, Wide anterior fontanel,... |
ORPHA:2143 |
Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231169 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, General... |
ORPHA:2790 |
Rapp-Hodgkin Syndrome |
|
Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Carious teeth, Coni... |
OMIM:129400 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Abnormal pinna morphology, Depressed nasal bridge, Choanal atresia, Wide anterior fontanel, Hydro... |
OMIM:207410 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Wide nose, Hyperactivity, Depressed nasal bridge, Anteverted nares, Ab... |
OMIM:614607 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Sensorineural hearing impairment, Osteoarthritis, Cleft palate, Joint ... |
ORPHA:90653 |
Acces Syndrome |
|
Sparse scalp hair, Supernumerary nipple, Hip dislocation, Tracheoesophageal fistula, Protruding e... |
OMIM:619959 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty... |
OMIM:259600 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Protruding e... |
OMIM:300534 |
Craniolenticulosutural Dysplasia |
|
Osteopenia, Gastroesophageal reflux, High palate, Bifid uvula, Joint laxity, Anteverted nares, Wi... |
OMIM:607812 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bridg... |
ORPHA:2180 |
Catel-Manzke Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Pectus excavatum, Joint... |
ORPHA:1388 |
Trisomy 18 |
|
Pointed helix, Holoprosencephaly, Bilateral single transverse palmar creases, Microretrognathia, ... |
ORPHA:3380 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... |
ORPHA:1540 |
Skraban-Deardorff Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Absent cupid's bow, Cleft palate, Widely ... |
OMIM:617616 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Anteverted nares, Exaggerated cupid's bow, Posteriorly rotated ears, Wide mouth, Delayed eruption... |
OMIM:618506 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Conductive hearing impairment, ... |
ORPHA:794 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1248 |
Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Underf... |
OMIM:620107 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Depressed nasal bridge, Abnormal rib morphology, Wide nasal bridge, Op... |
ORPHA:1513 |
Lethal Kniest-Like Dysplasia |
|
Wide anterior fontanel, Abnormal cartilage morphology, Abnormal cartilage matrix, Cleft palate, H... |
ORPHA:2347 |
Mohr Syndrome |
|
Short palm, Median cleft lip, Depressed nasal bridge, Wormian bones, Accessory oral frenulum, Mic... |
OMIM:252100 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Gingival overgrowth, Hearing impairment, Abnormality of the dentition |
ORPHA:2222 |
Renpenning Syndrome |
|
Mandibular prognathia, Skeletal muscle atrophy, Macrodontia, Prominent nose, Pectus excavatum, Hi... |
ORPHA:3242 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Short neck, Abnormal tibia morphology, Synophrys, Low anterior hairline, Vertebral ... |
ORPHA:251014 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Abnormal number of incisors, Prominent nose, Osteoporosis, Patellar subluxation, Supernumerary ri... |
ORPHA:2958 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Death in infancy, Depressed nasal bridge, Micrognathia, Bulbous nose, Optic atrophy, Death in chi... |
OMIM:618766 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Conductive hearing im... |
OMIM:164200 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliteration, Selective tooth agen... |
ORPHA:49042 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Ulnar deviation of the hand, Abnormal pinna morphology, Postaxial polyda... |
OMIM:614175 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Abnormal pinna morphology, Split hand, Hand oligodactyly, Cleft palate,... |
OMIM:183600 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Prominent ... |
ORPHA:1307 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Micrognathia, High, narrow palate, Conductive hearing impairment, Spina bifida occulta, Bifid uvu... |
ORPHA:2780 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Micrognathia, Wide anterior... |
ORPHA:85184 |
Opitz Gbbb Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Abnormal nasopharynx morphology, Posteriorly rotated e... |
OMIM:300000 |
Gapo Syndrome |
|
Anteverted nares, Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Mic... |
OMIM:230740 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperextensibility of the finger joints, Dental crowding, Micrognathia, Hypoplasia of the maxilla... |
OMIM:309520 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Abnormal shoulder morphology, Mesomelia, Convex nasal ridge, Brachydactyly |
ORPHA:1277 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Broad nasal tip, Micrognathia, Cleft palate, Small thenar eminence, Microtia, Sh... |
OMIM:239800 |
Braddock-Carey Syndrome 2 |
|
Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory c... |
OMIM:619981 |
Cohen Syndrome |
|
Thoracic scoliosis, Short metacarpal, Facial hypotonia, Prominent nasal bridge, Lumbar hyperlordo... |
OMIM:216550 |
Coffin-Siris Syndrome 3 |
|
Joint laxity, Wide nose, Depressed nasal bridge, Anteverted nares, Central diaphragmatic hernia, ... |
OMIM:614608 |
Nance-Horan Syndrome |
|
Prominent nasal bridge, Prominent nose, Diastema, Macrotia, Mulberry molar, Supernumerary maxilla... |
OMIM:302350 |
Noonan Syndrome |
|
Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin... |
ORPHA:648 |
Seckel Syndrome 5 |
|
11 pairs of ribs, Prominent nasal bridge, Selective tooth agenesis, Micrognathia, Cleft palate, O... |
OMIM:613823 |
Ciliary Dyskinesia, Primary, 2 |
|
Nasal polyposis, Sinusitis, Absent inner and outer dynein arms, Otitis media, Hearing impairment |
OMIM:606763 |
Carpenter Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, High palate, Conductive hearing impairment, Spina bifida... |
OMIM:201000 |
Primary Ciliary Dyskinesia |
|
Nasal polyposis, Intestinal malrotation, Hydrocephalus, Nasal congestion, Recurrent otitis media,... |
ORPHA:244 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Prominent nasal bridge, Sensorineural hearing impairment, Osteoporosis... |
ORPHA:71267 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Poste... |
OMIM:600325 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Facial hypotonia, Underde... |
ORPHA:438216 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... |
OMIM:200990 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Joint dislocation, Respiratory distress, Micrognathia, Feeding difficulties, Wide mouth, Widely s... |
OMIM:300934 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hypoplastic nasal septum, Holoprosencephaly, Median cleft palate, Hypop... |
OMIM:610828 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Abnormal nasopharynx morphology, Mixed hearing impairment, Facial palsy, A... |
OMIM:218400 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Abnormal pinna morphology, Depressed nasal bridge, Hyperlordosis, Wide anterior fontanel, Reye sy... |
ORPHA:26791 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Micrognathia, Microcephaly, Hydrocephalus, Cleft palate, Hypoplasia of the brainstem, Cerebellar ... |
OMIM:225790 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of t... |
ORPHA:245 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... |
ORPHA:1106 |
Six2-Related Frontonasal Dysplasia |
|
Absent/hypoplastic paranasal sinuses, Posteriorly rotated ears, Depressed nasal bridge, Broad nas... |
ORPHA:488437 |
Non-Distal Duplication 10Q |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Pectus excavatum, Joint ... |
ORPHA:1695 |
Arthrogryposis, Distal, Type 2E |
|
Foot joint contracture, Micrognathia, Trismus, Distal arthrogryposis, Narrow mouth, Absent antihe... |
OMIM:121070 |
Hartsfield Syndrome |
|
Encephalocele, Low-set, posteriorly rotated ears, Depressed nasal bridge, Craniosynostosis, Split... |
ORPHA:2117 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Anal atresia |
ORPHA:93950 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Prominent nasal bridge, Abnormality of the dentition, Pectus excavatum, Carious teeth, Prominent ... |
ORPHA:3270 |
Monosomy 5P |
|
Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Short neck, Microcephaly... |
ORPHA:281 |
Bare Lymphocyte Syndrome, Type I |
|
Chronic otitis media, Nasal polyposis, Chronic sinusitis |
OMIM:604571 |
Distal Deletion 13Q |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Microcephaly, Anencephal... |
ORPHA:1590 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Facial hypotonia, Hyperplasia of the maxilla |
OMIM:618383 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Large posterior fontanelle, Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal... |
ORPHA:85199 |
Acrofrontofacionasal Dysostosis 2 |
|
Wide nose, Posteriorly rotated ears, Wide anterior fontanel, High palate, Low-set ears, Overfolde... |
OMIM:239710 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Micromelia, Micrognathia, Abnormal form of the v... |
ORPHA:628 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, D... |
OMIM:619797 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Depressed nasal bridge, Wide anterior fontanel, Feeding difficulties, Macroglossia, Umbilical hernia |
OMIM:275100 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Death in infancy, Persistent open anterior fontanelle, Stippled chondral calcification, Micrognat... |
OMIM:614866 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Antev... |
ORPHA:950 |
Campomelic Dysplasia |
|
Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Cervical kyphosis, Microgna... |
OMIM:114290 |
Ciliary Dyskinesia, Primary, 35 |
|
Chronic otitis media, Nasal polyposis, Chronic sinusitis, Chronic rhinitis |
OMIM:617092 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Anteverted nares, Dental crowding, Kyphoscoliosis, Bulbous nose, Senso... |
OMIM:616354 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormality of the philtrum, Abnormal oral mucosa morphology, Hypoplasia o... |
ORPHA:2673 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Congenital diaphrag... |
ORPHA:1488 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormality of bone mineral d... |
ORPHA:861 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... |
OMIM:616331 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Wide nasal bridge, Gingival overgrowth, Downturned corners of... |
OMIM:618729 |
Keipert Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Prominent nasal brid... |
ORPHA:2662 |
Aicardi Syndrome |
|
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Missing ribs, Cleft upper li... |
ORPHA:50 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Osteoporosis of vertebrae, Mul... |
OMIM:156510 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Brachydactyly, Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, High, narrow palat... |
ORPHA:444002 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, High palate, Chronic otitis me... |
OMIM:614188 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Protruding ear, High palate, ... |
OMIM:249420 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Depressed nasal bridge, Rhizomelia, Sandal gap, Micr... |
OMIM:108721 |
Mcdonough Syndrome |
|
Mandibular prognathia, Low-set, posteriorly rotated ears, Prominent nose, Pectus excavatum, Micro... |
ORPHA:2471 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Optic nerve hypoplasia, Hearing impairment, Micrognathia, Hypoplasia of th... |
OMIM:620157 |
Ciliary Dyskinesia, Primary, 30 |
|
Nasal polyposis, Absent outer dynein arms, Nasal congestion, Recurrent otitis media, Chronic sinu... |
OMIM:616037 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,... |
ORPHA:439822 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Cornelia De Lange Syndrome 2 |
|
Thick eyebrow, Anteverted nares, Prominent nasal bridge, Limited elbow movement, Micrognathia, Sh... |
OMIM:300590 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Epistaxis, Dental crowding, Broad nasal tip, Hypoplasia of the maxilla, A... |
ORPHA:293939 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Osteopenia, Micrognathia, Prominent nose, Pectus carinatum, High palate, Macrotia, Hyperplasia of... |
OMIM:620194 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... |
ORPHA:2325 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Micrognathia, Cleft palate, Short 5th finger, Polydactyly, Small placenta, Ectrodacty... |
ORPHA:397590 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Lumbar hyperlordosis, Depressed nasal bridge, Bowel incontin... |
OMIM:616482 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Underdeveloped nasal alae, Microcephaly, Cleft palate, Webbed neck, Hydranencephaly, Short distal... |
OMIM:601355 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Micrognathia, Coronal craniosynostosis, Knee dislocation, Irregular epiphyses of the metacarpals,... |
OMIM:614078 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Ab... |
OMIM:265900 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Rhizomelia, Micrognathia, Abnormal rib morphology, Wide nasal bridg... |
ORPHA:93267 |
Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Wide nose, Tented upper lip vermilion, Depressed nasal bridge, Antever... |
ORPHA:420561 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor, Low-set ears |
OMIM:620062 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Hearing impairment, Microcephaly, Abnormal nasal morphology, Split h... |
ORPHA:2850 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
Phenobarbital Embryopathy |
|
Mandibular prognathia, Microcephaly, Aplasia/Hypoplasia of fingers, Abnormal nasal base norpholog... |
ORPHA:1919 |
Ck Syndrome |
|
Hyperactivity, Dental crowding, Prominent nasal bridge, Posteriorly rotated ears, Micrognathia, A... |
OMIM:300831 |
Immunodeficiency 13 |
|
Recurrent upper respiratory tract infections, Nasal polyposis, Recurrent otitis media, Recurrent ... |
OMIM:615518 |
Oculoskeletodental Syndrome |
|
Depressed nasal bridge, Abnormality of the dentition, Hyperlordosis, Conductive hearing impairmen... |
ORPHA:557003 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Mandibular prognathia, Prominent nose, Wide nasal bridge, Narrow palate, Brachydactyly |
OMIM:617169 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Hypoplasia of the maxilla, Optic atrophy, Cleft palate, Low-set ears, Right ventricula... |
OMIM:614261 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Chung-Jansen Syndrome |
|
Anteverted nares, Impulsivity, Micrognathia, Aggressive behavior, Feeding difficulties, Large ear... |
OMIM:617991 |
Phocomelia, Schinzel Type |
|
Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal tibia morphology, Protruding ... |
ORPHA:2879 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... |
OMIM:609945 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Hemivertebrae, Thoracic hemivertebrae,... |
OMIM:268310 |
Aarskog-Scott Syndrome |
|
Joint laxity, Hyperextensibility of the finger joints, Anteverted nares, Cleft upper lip, Pectus ... |
OMIM:305400 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Anteverted nares, Depressed nasal bridge, Apnea, Wide anterior fontanel, Large fontanelles, Decre... |
OMIM:614883 |
Frontorhiny |
|
Encephalocele, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Camptodactyly of finger, ... |
ORPHA:391474 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent otitis media, Abnormal axonemal organization of respiratory motile cilia, Nasal polypos... |
OMIM:613808 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Sensorineural hearing impairment, Gingival fibromatosis, Gingival over... |
ORPHA:2027 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Glossoptosis, Narrow chest, ... |
ORPHA:1452 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Protruding ear, High palate, Conductive hearing impairment, Short tibia, Hamartoma ... |
ORPHA:2751 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Death in infancy, Camptodactyly of finger, Micrognathia, Recurrent pneumonia, Protruding ear, Gas... |
ORPHA:1495 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, Sparse scalp hair, Sparse eyelashes, 1-4 finger syndactyly, Sparse eyebrow... |
OMIM:225280 |
Congenital Myopathy 19 |
|
Skeletal muscle atrophy, Posteriorly rotated ears, Facial hypotonia, Micrognathia, Depressed nasa... |
OMIM:618578 |
Lambotte Syndrome |
|
Retrognathia, Atresia of the external auditory canal, Narrow mouth, Macrotia, Convex nasal ridge,... |
OMIM:245552 |
Acro-Renal-Mandibular Syndrome |
|
Micrognathia, Short neck, Hemivertebrae, High palate, Low-set, posteriorly rotated ears, Hypoplas... |
ORPHA:958 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Prominent nasal bridge, Kyphoscoliosis, Prominent nose, Carious teeth,... |
OMIM:214150 |
Marshall Syndrome |
|
Thick upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Absent frontal... |
OMIM:154780 |
Kagami-Ogata Syndrome |
|
Long clavicles, Anteverted nares, Depressed nasal bridge, Diastasis recti, Micrognathia, Hypoplas... |
OMIM:608149 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Microcephaly, Sensorineu... |
ORPHA:1131 |
Iniencephaly |
|
Encephalocele, Dandy-Walker malformation, Rhizomelia, Rocker bottom foot, Spina bifida, Hyperlord... |
ORPHA:63259 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Narrow nasal bridge, Brachydactyly, Hyperlordosis, Abnormal thumb morpholo... |
ORPHA:2511 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Prominent nasal bridge, Pectus excavatum, Hypoplasia of the maxilla, Kypho... |
OMIM:300676 |
Crouzon Syndrome |
|
Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hyd... |
OMIM:123500 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Craniosynostosis, Cleft palate, Diaphragmatic eventration, Convex nasa... |
OMIM:600252 |
Ritscher-Schinzel Syndrome 3 |
|
Death in infancy, Thin upper lip vermilion, Anteverted nares, Micrognathia, Wide anterior fontane... |
OMIM:619135 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Large posterior fontanelle, Abnormal pinna morphology, Depressed nasal bridge, Hamar... |
OMIM:617925 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Micrognathia, Paucity of anterio... |
OMIM:611890 |
Alg9-Cdg |
|
Villous atrophy, Micrognathia, Large fleshy ears, Vomiting, Gastroesophageal reflux, Abnormal bon... |
ORPHA:79328 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Anteverted nares, Depressed nasal bridge, P... |
ORPHA:264450 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Short neck, Micrognathia, Calcaneovalgus deformity, Depressed nasal ridge, Neonatal d... |
OMIM:256520 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Cleft palate, Upper limb phocomelia, Abnormality of the neck, Stillbirth, Polydactyly... |
ORPHA:294975 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Pectus carinatum, Prot... |
OMIM:190350 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Prominent nasal tip, Hyperactivity, Anteverted nares, Micrognathia, Abnormal repetitive mannerism... |
ORPHA:352490 |
Johnson Neuroectodermal Syndrome |
|
Choanal atresia, Facial palsy, Carious teeth, Bulbous nose, Anosmia, Cleft palate, Protruding ear... |
ORPHA:2316 |
Osteoglosphonic Dysplasia |
|
Abnormal clavicle morphology, Anteverted nares, Choanal atresia, Rhizomelia, Micrognathia, Cranio... |
ORPHA:2645 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Depressed nasal bridge, ... |
ORPHA:1458 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Thin upper lip vermilion, Anteverted nares, Uplifted earlobe, Micrognathia, Feeding difficulties ... |
OMIM:618548 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Short metacarpal, Tarsal synostosis, Diastema, Deep philtrum, Talon cusp, Opti... |
OMIM:605282 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Hypoplasia of the maxilla, Sensorineural hearing impairment, Genu valgum, Abnormal ri... |
OMIM:608154 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Underdeveloped nasal alae, Micrognathia, Wide nasal bridge, Short foot, Microtia, High palate, Jo... |
OMIM:248910 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Prominent nasal tip, Scapular winging, Lumbar hyperlordosis, Anteverte... |
OMIM:612921 |
Microhydranencephaly |
|
Prominent nasal bridge, Microcephaly, Macrotia, Hypoplasia of the brainstem, Talipes equinovarus,... |
OMIM:605013 |
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of the nose, Micrognathia, Whistling appearance, H... |
ORPHA:1150 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the ... |
ORPHA:276422 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Absent frontal sinuses, Absent outer dynein arms, A... |
OMIM:244400 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Flexion contracture, Short philtrum, Widely spaced teeth, Microdontia, Abnormal repetitive manner... |
OMIM:619293 |
Ciliary Dyskinesia, Primary, 19 |
|
Nasal polyposis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis, Recurrent oti... |
OMIM:614935 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Narrow nasal bridge, Micrognathia, Aplasia/Hypoplasia of toe, Kyphosis, Ap... |
ORPHA:3082 |
Toriello-Carey Syndrome |
|
Neonatal respiratory distress, Aganglionic megacolon, Abnormal pinna morphology, Micrognathia, Fe... |
ORPHA:3338 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... |
ORPHA:2496 |
Raine Syndrome |
|
Mandibular prognathia, Micromelia, Micrognathia, Protruding ear, Choanal stenosis, High palate, M... |
OMIM:259775 |
Hemifacial Microsomia With Radial Defects |
|
Non-midline cleft lip, Cleft palate, Orofacial cleft, Microtia, Atresia of the external auditory ... |
OMIM:141400 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Transaldolase Deficiency |
|
Depressed nasal bridge, Wide anterior fontanel, Asthma, Deep philtrum, Wide mouth, Thin vermilion... |
OMIM:606003 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent otitis media, Nasal polyposis, Chronic rhinitis, Recurrent sinusitis |
OMIM:608647 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... |
OMIM:603194 |
Pai Syndrome |
|
Encephalocele, Nasal polyposis, Depressed nasal bridge, Median cleft lip, Cleft palate, Abnormal ... |
ORPHA:1993 |
Fibrochondrogenesis |
|
Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Wide anterior fontanel, Hearin... |
ORPHA:2021 |
Trisomy 13 |
|
Abnormal eyelash morphology, High, narrow palate, Postaxial hand polydactyly, Kyphosis, Sensorine... |
ORPHA:3378 |
Ciliary Dyskinesia, Primary, 22 |
|
Nasal polyposis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis, Recurrent oti... |
OMIM:615444 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Broad nasal tip, Feeding difficulties in infancy, Aggressive behavior, Open mouth, Self-injurious... |
OMIM:613670 |
Hartsfield Syndrome |
|
Syndactyly, Wide nose, Posteriorly rotated ears, Craniosynostosis, Alobar holoprosencephaly, Micr... |
OMIM:615465 |
Mpdu1-Cdg |
|
Wide anterior fontanel, Absence of acoustic reflex, Prominent frontal sinuses, Feeding difficulti... |
ORPHA:79323 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Low-set ears, Arthrogryposis multiplex congenita, Cleft palate, Micrognathia |
OMIM:616570 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Pectus carinatum, High palate, Short... |
OMIM:212720 |
Seckel Syndrome 1 |
|
11 pairs of ribs, Hyperactivity, Dental crowding, Selective tooth agenesis, Abnormal pinna morpho... |
OMIM:210600 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Facial palsy, Micrognathia, Type 2 muscle fiber atrophy, High palate, Scoliosis, Dysphagia, Weakn... |
OMIM:608930 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to... |
ORPHA:989 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Short neck, Micrognathia, Lobulated tongue, Agenesis of corpus callosum,... |
OMIM:249000 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow pa... |
ORPHA:2462 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Depressed nasal bridge, Abnormal pinna morphology, Congenital diaph... |
OMIM:614437 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Abnormal pinna morphology, Intestinal malrotation, Micrognathia, Pectus excavatum, Underdeveloped... |
ORPHA:77300 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Volvulus, Bilateral... |
OMIM:617802 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius, Ectopic anus |
ORPHA:2476 |
Cofs Syndrome |
|
Death in infancy, Prominent metopic ridge, Camptodactyly of finger, Micrognathia, Abnormal nasal ... |
ORPHA:1466 |
Holoprosencephaly 9 |
|
Depressed nasal bridge, Hypoplasia of the premaxilla, Optic nerve hypoplasia, Cleft upper lip, Hy... |
OMIM:610829 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Exaggerated cupid's bow, Abnormal dental morphology, Depressed nasal b... |
ORPHA:2025 |
Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Intestinal malrotation, Depressed nasal bridge, Broad nasal tip, Wide a... |
OMIM:222448 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Craniosynostosis, Underdeveloped nasal alae, Micrognathia, Hydrocephalus, Wide nasal bridge, Sten... |
ORPHA:1516 |
Saul-Wilson Syndrome |
|
Narrow nasal bridge, Micrognathia, Wide anterior fontanel, Sensorineural hearing impairment, Made... |
OMIM:618150 |
Lambert Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Malar flattening, Branchial anomaly |
ORPHA:1296 |
Perching Syndrome |
|
Respiratory distress, Depressed nasal bridge, Feeding difficulties, High palate, Scoliosis, Dysph... |
OMIM:617055 |
Coffin-Siris Syndrome 6 |
|
Wormian bones, Depressed nasal bridge, Posteriorly rotated ears, Kyphoscoliosis, Broad nasal tip,... |
OMIM:617808 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... |
OMIM:251450 |
Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Microcephaly, Hydrocephal... |
OMIM:611134 |
Ramon Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Sensorineural hearing impairment, G... |
ORPHA:3019 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Sparse scalp hair, Anteverted nares, Hearing impairment, Cario... |
ORPHA:2701 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:1113 |
Acrocephalopolydactyly |
|
Genu recurvatum, Depressed nasal ridge, Microtia, Protuberant abdomen, Premature closure of fonta... |
ORPHA:221054 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Short tibia, Ar... |
ORPHA:93323 |
Smith-Kingsmore Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Wide anterior fontanel, Open mouth, Feeding dif... |
OMIM:616638 |
Cerebellar-Facial-Dental Syndrome |
|
Anteverted nares, Foot joint contracture, Micrognathia, Dental malocclusion, Wide nasal bridge, A... |
ORPHA:444072 |
Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Death in ... |
OMIM:184260 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Feeding difficult... |
OMIM:180849 |
Schisis Association |
|
Encephalocele, Spina bifida, Micromelia, Microcephaly, Anencephaly, Tracheoesophageal fistula, Cl... |
ORPHA:63862 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Micrognathia... |
ORPHA:480907 |
Adenylosuccinate Lyase Deficiency |
|
Thin upper lip vermilion, Prominent metopic ridge, Anteverted nares, Low-set ears, Long philtrum,... |
ORPHA:46 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Thick nasal alae, Cleft soft palate, Underdeveloped antitragus, Prominent nose, Posteriorly rotat... |
ORPHA:293725 |
Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici... |
ORPHA:99772 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Acrocallosal Syndrome |
|
Wide anterior fontanel, Sensorineural hearing impairment |
ORPHA:36 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Sensorineural hearing impairment, Split hand, 2-3 toe syndactyly, Cleft palate, C... |
DECIPHER:46 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Prominent nasal tip, Hyperactivity, Depressed nasal bridge, Anteverted nares, Micrognathia, Kypho... |
OMIM:615834 |
Mend Syndrome |
|
Hyperactivity, Prominent nasal bridge, Abnormal auditory evoked potentials, Micrognathia, Aggress... |
ORPHA:401973 |
Emanuel Syndrome |
|
Multiple joint contractures, Dental crowding, Congenital hip dislocation, Congenital diaphragmati... |
ORPHA:96170 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Aplasia/Hypoplasia ... |
ORPHA:193 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Wide anterior fontanel, Platyspondyly, Atresia of the external auditory canal |
OMIM:601356 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne... |
OMIM:601812 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Abnormal pinna morphology, Depressed nasal bridge, Wide anterior fontanel, ... |
OMIM:231680 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Anteverted nares, Cleft soft palate, Posteriorly rotated ears, Broad nasal tip, Micrognathia, Abn... |
OMIM:618529 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Pa... |
OMIM:215140 |
14Q11.2 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia,... |
ORPHA:261120 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Anteverted nares, Posteriorly rotated ears, Abnormal pinna morphology, Hypopla... |
ORPHA:228396 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Anteverted nares, Posteriorly rotated ears, Hyperlordosis, Pierre-R... |
OMIM:619980 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Slender nose, Thin upper lip vermilion, Skeletal muscl... |
OMIM:615419 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, Wide nasal b... |
OMIM:106260 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Wide nasal bridge, Downturned corners of mouth, Wide mouth, Everted low... |
OMIM:618067 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Microcephaly, Split hand, Wide nasal bridge, Cerebral atrophy, Low-set ears, Neonatal death |
OMIM:610127 |
Craniosynostosis 3 |
|
Hallux valgus, Single transverse palmar crease, Sagittal craniosynostosis, Partial agenesis of th... |
OMIM:615314 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short femur, Micrognathia, Rib fusion, Abnormal rib morphology, Orofaci... |
ORPHA:1988 |
6Q16 Microdeletion Syndrome |
|
Abnormal ear morphology, Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormal thorax ... |
ORPHA:171829 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Congenital hip dislocation, Intestin... |
OMIM:113650 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Low-set, posteriorly rotated ears, Abnormal den... |
ORPHA:1133 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flat glenoid fos... |
OMIM:224690 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Dental crowding, Feeding difficulties in infancy, Downturned corners of mo... |
OMIM:618371 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Hyperextensibility of the finger joints, Joint hypermobility, Hyperextensibili... |
OMIM:130000 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Hypoplastic iliac wing, Anterior wedging of L1, Lumbar hyperlordosis, Depre... |
OMIM:253200 |
Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Tented upper lip vermilion, Flexion contracture, Gait ataxia, High palate, ... |
OMIM:619383 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Broad nasal tip, Repetitive compulsive behavior, Flexion contracture, Abno... |
ORPHA:391372 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Posteriorly rotated ears, Thick nasal alae, Episodic tachypnea, Micrognathia... |
ORPHA:163961 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Mandibular prognathia, Lumbar hyperlordosis, Broad hallux, Depressed nasal bridge, Short thumb, P... |
OMIM:165800 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Short thumb, Flexion contracture of the 2nd toe, Scoliosis, Tooth malpo... |
ORPHA:2712 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Death in infancy, Wide anterior fontanel, Death in childhood, Pulmonary arterial hypertension, Le... |
OMIM:619064 |
Atelosteogenesis, Type I |
|
Laryngeal stenosis, Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, ... |
OMIM:108720 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Death in infancy, Macrotia, Agitation |
OMIM:272300 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal... |
OMIM:101800 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Adenoiditis, Flexion contracture, Abnormal form of the vertebral bo... |
ORPHA:581 |
Robinow Syndrome, Autosomal Dominant 1 |
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Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Abnormal clavicle morphology, Abnormal dental morphology, Malar prominence, Pectus excavatum, Mic... |
ORPHA:2522 |
Autosomal Recessive Robinow Syndrome |
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Micrognathia, Short neck, Vertebral segmentation defect, Clinodactyly of the 5th finger, Chronic ... |
ORPHA:1507 |
Lipoid Proteinosis |
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Nasal polyposis, Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip ver... |
ORPHA:530 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
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Anteverted nares, Depressed nasal bridge, Craniosynostosis, Micrognathia, Hydrocephalus, Large fo... |
ORPHA:171839 |
Andersen-Tawil Syndrome |
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Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence... |
ORPHA:37553 |
Restrictive Dermopathy 1 |
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Micrognathia, Flexion contracture, Neonatal death, Depressed nasal bridge, Narrow nasal ridge, An... |
OMIM:275210 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
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Wide nose, Anteverted nares, Down-sloping shoulders, Micrognathia, Pectus excavatum, Knee flexion... |
OMIM:619694 |
Diaphanospondylodysostosis |
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Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... |
OMIM:608022 |
Multiple Synostoses Syndrome 1 |
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Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Hypoplastic n... |
OMIM:186500 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
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Hip contracture, Scapular winging, Internally rotated shoulders, Dental crowding, Ankle flexion c... |
OMIM:617468 |
Autosomal Recessive Distal Osteolysis Syndrome |
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Abnormality of the dentition, Hypoplasia of the maxilla, Broad nasal tip, Osteolysis, Short dista... |
ORPHA:2776 |
Otofaciocervical Syndrome |
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Abnormal clavicle morphology, Scapular winging, Anteverted nares, Down-sloping shoulders, Depress... |
ORPHA:2792 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
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Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Mi... |
OMIM:602471 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
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Conical tooth, Micrognathia, Anteverted ears, Aplasia of the inner ear, Widely spaced teeth, Peg-... |
OMIM:610706 |
Van Den Ende-Gupta Syndrome |
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Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Lateral clavicle hook, Hypoplasia of the... |
OMIM:600920 |
Hao-Fountain Syndrome |
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Large fontanelles, Delayed cranial suture closure, Low-set ears, Aggressive behavior |
OMIM:616863 |
Chromosome 15Q26-Qter Deletion Syndrome |
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Micrognathia, Microcephaly, Wide nasal bridge, Short middle phalanx of finger, Talipes equinovaru... |
OMIM:612626 |
Baller-Gerold Syndrome |
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Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... |
OMIM:218600 |
Ring Chromosome 13 Syndrome |
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Aplasia/Hypoplasia of the thumb, Alopecia, Anteverted nares, Depressed nasal bridge, Posteriorly ... |
ORPHA:96176 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
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Encephalocele, Low-set, posteriorly rotated ears, Hypoplasia of the premaxilla, Intestinal malrot... |
ORPHA:2166 |
Oculoauriculofrontonasal Syndrome |
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Encephalocele, Wide nose, Underdeveloped nasal alae, Bifid nasal tip, Micrognathia, Cleft lip, Cl... |
ORPHA:398156 |
Odontochondrodysplasia |
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Delayed eruption of teeth, Death in infancy, Depressed nasal bridge, Micromelia, Joint hyperflexi... |
ORPHA:166272 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
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Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Synophrys, Short met... |
ORPHA:1278 |
Ogden Syndrome |
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Large posterior fontanelle, Congenital hip dislocation, Apnea, Micrognathia, Deep philtrum, Protr... |
OMIM:300855 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
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Syndactyly, Megalencephaly, Hydrocephalus, Postaxial hand polydactyly, Thick corpus callosum, Pol... |
OMIM:615938 |
Vitamin D-Dependent Rickets, Type 2A |
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Delayed eruption of teeth, Enlargement of the ankles, Recurrent fractures, Carious teeth, Delayed... |
OMIM:277440 |
Brachydactyly, Type A1 |
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Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... |
OMIM:112500 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
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Wide anterior fontanel, Respiratory failure, Death in infancy, Feeding difficulties |
OMIM:618240 |
Achondrogenesis Type 1A |
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Anteverted nares, Recurrent fractures, Micrognathia, Abnormal enchondral ossification, Abdominal ... |
ORPHA:93299 |
Incisors, Shovel-Shaped |
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Shovel-shaped maxillary central incisors |
OMIM:147400 |
Fontaine Progeroid Syndrome |
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Mandibular prognathia, Micrognathia, High, narrow palate, Anteriorly placed anus, Oligodontia, Ga... |
OMIM:612289 |
Microphthalmia, Syndromic 8 |
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Mandibular prognathia, Split foot, Cleft palate, Microcephaly |
OMIM:601349 |
Aicardi Syndrome |
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Prominence of the premaxilla, Anteverted nares, Block vertebrae, Spina bifida, Missing ribs, Clef... |
OMIM:304050 |
Triphalangeal Thumbs With Brachyectrodactyly |
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Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly |
OMIM:190680 |
Crossed Polysyndactyly |
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Finger syndactyly, Aplasia/Hypoplasia of the thumb, Depressed nasal bridge, Hearing abnormality, ... |
ORPHA:2935 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Wide anterior fontanel, Depressed nasal bridge, Feeding difficulties |
OMIM:617241 |
Muenke Syndrome |
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Broad hallux, Hearing impairment, Capitate-hamate fusion, Sensorineural hearing impairment, Denta... |
OMIM:602849 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
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Low-set, posteriorly rotated ears, Pericallosal lipoma, Sparse eyelashes, Camptodactyly of finger... |
ORPHA:306542 |
Hall-Riggs Syndrome |
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U-Shaped upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prominent nose, Kyphosis,... |
OMIM:234250 |
Nasopalpebral Lipoma-Coloboma Syndrome |
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Depressed nasal bridge, Hypoplasia of the maxilla, Cupped ear, Wide nasal bridge, Low-set ears |
OMIM:167730 |
Osteogenesis Imperfecta, Type Xix |
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Osteopenia, Rhizomelia, Recurrent fractures, Pectus excavatum, Multiple prenatal fractures, Verte... |
OMIM:301014 |
Congenital Neuronal Ceroid Lipofuscinosis |
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Microcephaly, Split hand, Wide nasal bridge, Neuronal loss in the cerebral cortex, Aplasia/Hypopl... |
ORPHA:168486 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
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Prominent nose, Micrognathia, Aplasia of the epiglottis, Protruding ear, High palate, Short tibia... |
OMIM:268305 |
Stapes Ankylosis With Broad Thumbs And Toes |
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Stapes ankylosis, Toe syndactyly, Broad hallux, Underdeveloped nasal alae, Long nose, Congenital ... |
OMIM:184460 |
Multiple Epiphyseal Dysplasia, Lowry Type |
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Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Broad nasal tip, Micrognathia, Cleft hard palate... |
ORPHA:166016 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
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Abnormal social behavior |
ORPHA:436151 |
Brachydactyly, Type A1, C |
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Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... |
OMIM:615072 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
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Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dental crowding, Micrognathia... |
OMIM:615761 |
Holoprosencephaly |
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Short neck, Synophrys, Depressed nasal ridge, Abnormal form of the vertebral bodies, Absent nares... |
ORPHA:2162 |
Alpha-Mannosidosis |
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Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Open bite, Kyphosis, De... |
ORPHA:61 |
Fetal Akinesia Deformation Sequence 2 |
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Tented upper lip vermilion, Micrognathia, Flexion contracture, Wide nasal bridge, Cleft palate, H... |
OMIM:618388 |
Odontotrichoungual-Digital-Palmar Syndrome |
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Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Brachydactyly, Single transverse... |
OMIM:601957 |
Metatropic Dysplasia |
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Low-set, posteriorly rotated ears, Depressed nasal bridge, Camptodactyly of finger, Micromelia, A... |
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