Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
treacle ribosome biogenesis factor 1
Synonyms:
treacle

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Tcof1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Tcof1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Tcof1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Holoprosencephaly 7
Hypoplastic nasal septum, Hypoplasia of the premaxilla, Alobar holoprosencephaly, Agenesis of cor... OMIM:610828
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Wide nasal bridge, Cranium bifidum occultum, Hypoplasia of the maxilla, Hypoplasia of the frontal... ORPHA:306542
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Optic atrophy, Hypoplasia of the maxilla, Widely-spaced incisors, Bulbous nose, Hypoplasia of the... OMIM:618737
Frontofacionasal Dysplasia
Cranium bifidum occultum, Hypoplasia of the frontal bone, Bifid uvula, Underdeveloped nasal alae,... OMIM:229400
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Retrognathia, Respiratory distress, Anteverted nares, Micrognathia, Median... ORPHA:1832
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hypoplasia of the maxilla, Optic atrophy, Respiratory insufficiency, Malar flatt... ORPHA:93262
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Maxillonasal Dysplasia
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Tooth agenesis, Open bi... ORPHA:1248
Isolated Exencephaly
Abnormal calvaria morphology, Hypoplasia of the frontal bone, Abnormal facial skeleton morphology... ORPHA:563612
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Prominence of the premaxilla, Narro... OMIM:137550
Intellectual Developmental Disorder, Autosomal Recessive 68
Wide nasal bridge, Hypoplasia of the maxilla, Periventricular leukomalacia, Microcephaly, Hydroce... OMIM:618302
Crouzon Syndrome
Choanal atresia, Hypoplasia of the maxilla, Optic atrophy, Multiple suture craniosynostosis, Resp... ORPHA:207
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide nasal bridge, Hepatic failure, Cerebral atrophy, Scaphocephaly, Prominent nose, Prominence o... OMIM:614886
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Respiratory distress, Temporomandibular joint ankylosis, Feeding difficulties, Micr... ORPHA:141152
Hartsfield Syndrome
Hypoplasia of the frontal bone, Semilobar holoprosencephaly, Alobar holoprosencephaly, Cleft uppe... OMIM:615465
Frontonasal Dysplasia 1
Wide nasal bridge, Cranium bifidum occultum, Hypoplasia of the maxilla, Broad nasal tip, Bifid na... OMIM:136760
Holoprosencephaly 9
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Bilateral cleft palate, Short hard palate... OMIM:610829
Familial Median Cleft Of The Upper And Lower Lips
Diastema, Abnormal mandible morphology, Cleft upper lip, Cleft lower lip, Irregular dentition, Me... ORPHA:401942
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Broad nasal tip ORPHA:2776
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Prominent nasal bridge, Chronic constipation, Macrocephaly, High palat... OMIM:300676
Dislocation Of The Hip-Dysmorphism Syndrome
Wide nasal bridge, Depressed nasal ridge, Anteverted nares, Narrow mouth, Malar flattening, Abnor... ORPHA:2412
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Microcephaly, Brachycephaly, Anal atresia, Mandibular prognathia ORPHA:93950
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Wide nasal bridge, Short thorax, Abnormal sacrum morphology, Intrauterine g... ORPHA:1797
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Intellectual Developmental Disorder, Autosomal Dominant 70
Wide nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Hypoplasia of the pons, Retrognath... OMIM:620157
Fg Syndrome Type 1
Finger syndactyly, Clinodactyly of the 2nd finger, Micrognathia, Open mouth, Cryptorchidism, Sens... ORPHA:93932
Spondylocostal Dysostosis 1, Autosomal Recessive
Severe short stature, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosis, Rib ... OMIM:277300
Isolated Arrhinia
Tessier cleft, Underdeveloped nasal alae, Respiratory distress, Midline defect of the nose, Aplas... ORPHA:1134
Lujan-Fryns Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Aplasia/Hypoplasia of t... ORPHA:776
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Aplasia/Hypoplasia of the corpus callosum, Umbilical hernia, Intest... ORPHA:2166
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Convex nasal ridge, Thin vermilion border, Short philtrum, Premature l... OMIM:156510
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, Microcephaly, Brachycephaly, Everted lower lip vermilion, C... ORPHA:1695
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Aplasia/Hypoplasia invo... ORPHA:1529
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Prominent nasal bridge, Microcephaly, Macrocephaly, High palate ORPHA:85279
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Ora... ORPHA:199306
20P12.3 Microdeletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Long philtrum, Narrow mouth... ORPHA:261295
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, Diffuse white matter abnormalities, Hypoplasia of the maxilla, Decreased motor... OMIM:218000
Malan Syndrome
Retrognathia, Gingival overgrowth, Narrow mouth, Hypoplasia of the corpus callosum, Hyperplasia o... OMIM:614753
Sweeney-Cox Syndrome
Low-set ears, Crumpled ear, Hearing impairment, Velopharyngeal insufficiency, Micrognathia, Narro... OMIM:617746
Neurofaciodigitorenal Syndrome
Abnormal oral mucosa morphology, Hypoplasia of the premaxilla, Plagiocephaly, Prominent nasal bri... ORPHA:2673
Intellectual Developmental Disorder, Autosomal Recessive 69
Cerebellar hypoplasia, Microcephaly, Hyperplasia of the maxilla OMIM:618383
Verheij Syndrome
Branchial cyst, Clinodactyly, Short neck, Hip dislocation, Short nose, Short 5th finger, Broad na... OMIM:615583
Holoprosencephaly 2
Bifid uvula, Alobar holoprosencephaly, Semilobar holoprosencephaly, Proboscis, Median cleft palat... OMIM:157170
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Scoliosis, Abnormal sacr... ORPHA:1988
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Spondylocostal Dysostosis 5
Severe short stature, Pectus carinatum, Butterfly vertebrae, Supernumerary ribs, Missing ribs, Sh... OMIM:122600
Autosomal Recessive Spondylocostal Dysostosis
Depressed nasal bridge, Short thorax, Finger syndactyly, Umbilical hernia, Camptodactyly of finge... ORPHA:2311
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, High palate, Cleft palate OMIM:246560
Aarskog-Scott Syndrome
Small hand, Finger syndactyly, Cryptorchidism, Short neck, Everted lower lip vermilion, Short foo... ORPHA:915
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Diaphanospondylodysostosis
Myelomeningocele, Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Abnorm... ORPHA:66637
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Secondary microcephaly, Trigonocephaly, Feeding difficulties, Microgna... ORPHA:79113
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Hypoplasia of the maxilla, Pursed lips, Optic disc coloboma, Aglossia, ... OMIM:241310
Pierre Robin Syndrome
Neonatal respiratory distress, Micrognathia, Feeding difficulties in infancy, Glossoptosis, Cleft... OMIM:261800
Congenital Arthrogryposis With Anterior Horn Cell Disease
Retrognathia, Cerebral atrophy, Micrognathia, Facial diplegia, Neonatal death, Microcephaly, Resp... OMIM:611890
Congenital Disorder Of Glycosylation, Type Iu
Optic atrophy, Neonatal respiratory distress, Respiratory distress, Secondary microcephaly, Feedi... OMIM:615042
Robinow Syndrome, Autosomal Recessive 1
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, ... OMIM:268310
Microcephaly-Microcornea Syndrome, Seemanova Type
Retrognathia, Narrow mouth, Microcephaly, Brachycephaly, High palate ORPHA:2528
Microphthalmia With Limb Anomalies
Depressed nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Optic atrophy, L... ORPHA:1106
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Frontal bossing, Abnormal palate morphology, Turricephaly, Convex nasa... ORPHA:1540
Keipert Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Prominent nasal bridge, Tented upper lip vermi... ORPHA:2662
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Cleft palate, Long philtrum, Short nose ORPHA:90653
X-Linked Intellectual Disability, Porteous Type
Short philtrum, Bulbous nose, Hypoplasia of the maxilla, Mandibular prognathia ORPHA:93945
Intellectual Developmental Disorder, Autosomal Dominant 1
Low-set ears, Postnatal growth retardation, Micrognathia, Open mouth, Low posterior hairline, Eve... OMIM:156200
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Small hand, Shallow acetabular fossae, Postnatal growth retardation, Micrognathia, ... OMIM:611209
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Optic atrophy, ... OMIM:123500
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Delayed skeletal maturation, Radioulnar synostosis, Abnormal... ORPHA:3268
Orofaciodigital Syndrome Xix
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Carious teeth, Cleft soft palate, Narro... OMIM:620107
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Disproportionate short-trunk short stature... OMIM:608681
Pallister-Hall Syndrome
Toe syndactyly, Natal tooth, Postaxial foot polydactyly, Atresia of the external auditory canal, ... OMIM:146510
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Abnormal cranial nerve morphol... ORPHA:2345
Trisomy 13
Low-set ears, Abnormal helix morphology, Cryptorchidism, Bilateral single transverse palmar creas... ORPHA:3378
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Optic atrophy, Thickened calvaria, Brachycephaly, Macrocephaly, Craniosynostosis, Faci... ORPHA:178377
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Bell-shaped thorax, Vert... OMIM:613686
Lowry-Maclean Syndrome
High, narrow palate, Choanal atresia, Hypoplasia of the maxilla, Pyloric stenosis, Retrognathia, ... ORPHA:2409
Apert Syndrome
Agenesis of corpus callosum, Feeding difficulties in infancy, Cloverleaf skull, Choanal atresia, ... ORPHA:87
Intellectual Developmental Disorder, Autosomal Dominant 64
Low-set ears, Depressed nasal bridge, Plagiocephaly, Cupped ear, Prominent fingertip pads, Bulbou... OMIM:619188
Atelosteogenesis, Type Iii
Depressed nasal bridge, Hypoplasia of the maxilla, Micrognathia, Prominent occiput, Malar flatten... OMIM:108721
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Respiratory distr... OMIM:614669
Microphthalmia With Limb Anomalies
Flared nostrils, Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Postnatal growth retar... OMIM:206920
Cleft Velum
Hypoplasia of the maxilla, Nasal regurgitation, Velopharyngeal insufficiency, Oral-pharyngeal dys... ORPHA:99772
Gorlin-Chaudhry-Moss Syndrome
Coronal craniosynostosis, Hypoplasia of the maxilla, Abnormality of the dentition, Aplasia/Hypopl... ORPHA:2095
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Low-set ears, Choanal atresia, Iris coloboma, Cupped ear, Hearing impairment, Optic disc coloboma... ORPHA:52055
Mandibulofacial Dysostosis With Alopecia
Wide nasal bridge, Low-set ears, Hypoplasia of the maxilla, Cupped ear, Conductive hearing impair... OMIM:616367
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia ORPHA:2975
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Crowded maxillary incisors, Macrocephaly ORPHA:397973
Pfeiffer Syndrome
Coronal craniosynostosis, Hypoplasia of the maxilla, Choanal atresia, Depressed nasal bridge, Bra... OMIM:101600
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Microcephaly-Capillary Malformation Syndrome
Optic atrophy, Hypoplasia of the maxilla, Cerebral atrophy, Wide nose, Hypoplasia of the corpus c... OMIM:614261
Fetal Akinesia Deformation Sequence 4
Wide nasal bridge, Low-set ears, Broad neck, Retrognathia, 11 pairs of ribs, Micrognathia, Crypto... OMIM:618393
Intellectual Developmental Disorder, Autosomal Dominant 26
Wide nasal bridge, Depressed nasal bridge, Umbilical hernia, Anteverted nares, Micrognathia, Narr... OMIM:615834
8Q22.1 Microdeletion Syndrome
Wide nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Abnormality of the dentition... ORPHA:178303
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Dispropo... OMIM:156530
Potocki-Shaffer Syndrome
Broad nasal tip, Parietal foramina, Underdeveloped nasal alae, Downturned corners of mouth, Depre... ORPHA:52022
Marshall Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Abnormality of the dentitio... ORPHA:560
Poland Syndrome
Hypoplasia of deltoid muscle, Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, ... OMIM:173800
Carey-Fineman-Ziter Syndrome 2
High, narrow palate, Dental crowding, Velopharyngeal insufficiency, Underdeveloped nasal alae, Do... OMIM:619941
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Broad ischia, Irregular capital femoral epiphysis, Flat acetabular ... OMIM:609052
Chondrodysplasia Punctata, Autosomal Dominant
Frontal bossing, Hypoplasia of the nasal bone OMIM:118650
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Low-set ears, Choanal atresia, Bifid uvula, Broad neck, Cupped ear, Retrognathia, Optic disc colo... OMIM:300472
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Plagiocephaly, Long philtrum, Anteverted nares, Micrognathia, Feeding difficul... OMIM:618577
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Aplasia/Hypoplasia of the corpus callosum, Death in early adulthood, O... ORPHA:192
Otopalatodigital Syndrome Type 1
Wide nasal bridge, Short distal phalanx of finger, Depressed nasal bridge, Synostosis of carpal b... ORPHA:90650
Hyperphosphatasia-Intellectual Disability Syndrome
Clinodactyly, Supernumerary nipple, Micrognathia, Short neck, High palate, Abnormal parietal bone... ORPHA:247262
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, C... OMIM:113000
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact... OMIM:610017
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cerebral cortical atrophy, Depressed nasal bridge, Tooth malposition, Furrowed tongue, Micrognath... ORPHA:1387
Dysostosis, Stanescu Type
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomat... ORPHA:1798
2Q32Q33 Microdeletion Syndrome
Dental crowding, Long philtrum, Anteverted nares, Micrognathia, Prominent nasal bridge, Narrow mo... ORPHA:251019
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Low-set ears, Velopharyngeal insufficiency, Radioulnar synostosis, Vertebral clefting, Lobar holo... OMIM:614701
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Depressed nasal bridge, Umbilical hernia, Anteverted nares, Micrognathia, Protuberant abdomen, Ma... OMIM:618272
Recon Progeroid Syndrome
Dental crowding, Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Prominence ... OMIM:620370
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Gastroesophageal reflux, Decreased motor nerve conduction velocity, Feeding diffic... OMIM:615419
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Depressed nasal ridge, Tooth agenesis, Bilateral cleft palate, Meningocele, Absent nasal septal c... ORPHA:2003
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Malar flattening, Agenesis of cor... OMIM:109120
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta... OMIM:601216
Holoprosencephaly
Chorioretinal coloboma, Encephalocele, Cryptorchidism, Abnormal antihelix morphology, Anophthalmi... ORPHA:2162
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Mandibular osteomyelitis, Dental malocclusion, Periapical bone loss... ORPHA:83451
Kabuki Syndrome 2
Low-set ears, Natal tooth, Hearing impairment, Recurrent otitis media, Postnatal growth retardati... OMIM:300867
Seckel Syndrome 4
Severe short stature, Low-set ears, Retrognathia, Underdeveloped nasal alae, Intrauterine growth ... OMIM:613676
Kleeblattschaedel
Proptosis, Hydrocephalus OMIM:148800
Nager Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Respiratory insufficiency, Micrognat... ORPHA:245
Auriculocondylar Syndrome 1
Low-set ears, Mandibular condyle aplasia, Cupped ear, Cleft at the superior portion of the pinna,... OMIM:602483
Intellectual Developmental Disorder, X-Linked 104
Wide nasal bridge, Optic atrophy, Bifid nasal tip, Retrognathia, Trigonocephaly, High palate, Abn... OMIM:300983
Hoxha-Aliu Syndrome
Abnormal vertebral morphology, Low-set ears, Overlapping toe, Absent fifth metatarsal, Uplifted e... OMIM:620662
Craniodiaphyseal Dysplasia, Autosomal Dominant
Wide nasal bridge, Optic atrophy, Depressed nasal bridge, Craniofacial hyperostosis, Craniofacial... OMIM:122860
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Abnormal vertebral morphology, Low-set ears, Carpal synostosis, Micr... OMIM:218600
Hamel Cerebro-Palato-Cardiac Syndrome
Wide nasal bridge, Cupped ear, Bulbous nose, Micrognathia, Narrow mouth, Malar flattening, Death ... ORPHA:93946
Distal Xq28 Microduplication Syndrome
Epistaxis, Hypoplasia of the maxilla, Broad nasal tip, Recurrent upper respiratory tract infectio... ORPHA:293939
Metatropic Dysplasia
Severe short stature, Depressed nasal bridge, Narrow chest, Scoliosis, Coarse metaphyseal trabecu... ORPHA:2635
Chromosome 3Pter-P25 Deletion Syndrome
Low-set ears, Hearing impairment, Postnatal growth retardation, Overlapping toe, Micrognathia, Cr... OMIM:613792
Cornelia De Lange Syndrome 5
Depressed nasal bridge, Broad nasal tip, Gastroesophageal reflux, Retrognathia, Downturned corner... OMIM:300882
Skraban-Deardorff Syndrome
Depressed nasal bridge, Hyperplasia of the maxilla, Widely spaced teeth, Thick upper lip vermilio... OMIM:617616
Arthrogryposis, Distal, Type 1C
Pursed lips, Narrow mouth, Cryptorchidism, Hip contracture, Talipes equinovarus, Short neck, High... OMIM:619110
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla, Global brain atrophy, Vomiting, Long philtrum, Hypoplasia of the brain... ORPHA:481152
Autosomal Recessive Multiple Pterygium Syndrome
Low-set ears, Limitation of joint mobility, Finger syndactyly, Hearing impairment, Micrognathia, ... ORPHA:2990
Achondrogenesis Type 1A
Abdominal distention, Long philtrum, Umbilical hernia, Anteverted nares, Micrognathia, Macrocepha... ORPHA:93299
Cardioacrofacial Dysplasia 1
Conical tooth, Hypoplasia of the maxilla, Diastema, Overhanging nasal tip, Short philtrum, Access... OMIM:619142
Lissencephaly Syndrome, Norman-Roberts Type
Wide nasal bridge, Abnormal calvaria morphology, Microretrognathia, Respiratory distress, Cerebra... ORPHA:89844
Zaki Syndrome
Wide nasal bridge, Broad distal phalanx of finger, Toe syndactyly, Cupped ear, Ectrodactyly, Medi... OMIM:619648
Shashi-Pena Syndrome
Low-set ears, Broad nasal tip, Kyphosis, Cupped ear, Retrognathia, Intrauterine growth retardatio... OMIM:617190
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... ORPHA:2972
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Low-set ears, Cupped ear, Retrognathia, Anteverted nares, Micrognathia, Anterior concavity of tho... OMIM:617101
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... ORPHA:2790
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Depressed nasal ridge, Optic atrophy, Plagiocephaly, Downturned corners of mouth, Anteverted nare... OMIM:618672
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hypoplasia of the maxilla, Dental crowding, Narrow nose, Narrow nasal bridge, Micrognathia, Promi... OMIM:309520
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Branchial cyst, Sensorineural hearing impairment, Enlarged ves... OMIM:113650
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Anteverted nares, Thick vermilion bo... ORPHA:228396
Camptodactyly Syndrome, Guadalajara Type 1
Toe syndactyly, Open bite, Narrow mouth, High palate, Short nose, Pectus carinatum, Short toe, De... ORPHA:1327
Distal Triplication 15Q
Low-set ears, Abnormal helix morphology, Cupped ear, Retrognathia, Abnormal sternum morphology, I... ORPHA:314588
Tetralogy Of Fallot
Proptosis OMIM:187500
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Mandibular prognathia, Thick lower lip vermilion, Thick upper lip vermilion, Brachycephaly, Wide ... OMIM:309545
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Crumpled ear, Clinodactyly, Hearing impairment, Everted lower lip vermilion, High palate, Symphal... OMIM:620494
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nasal bridge, Low-set ears, Depressed nasal bridge, Hypoplasia of the maxilla, Cupped ear, D... OMIM:167730
Pierre Robin Sequence With Facial And Digital Anomalies
Micrognathia, Glossoptosis, Frontal bossing, Cleft palate, Pierre-Robin sequence OMIM:311895
Ververi-Brady Syndrome
Low-set ears, Broad nasal tip, Cupped ear, Delayed skeletal maturation, Bulbous nose, Intrauterin... OMIM:617982
Holoprosencephaly 11
Proptosis, Thick eyebrow, Hypotelorism, Holoprosencephaly, Synophrys OMIM:614226
Oculocerebrofacial Syndrome, Kaufman Type
High, narrow palate, Optic atrophy, Retrognathia, Abnormal lip morphology, Respiratory distress, ... ORPHA:2707
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Branchial fistula, Cupped ear, Retrognathia, Sen... OMIM:602588
Frias Syndrome
Ptosis, Proptosis, Hypertelorism, Downslanted palpebral fissures OMIM:609640
Angelman Syndrome
Cerebral cortical atrophy, Hypoplasia of the maxilla, Widely spaced teeth, Secondary microcephaly... OMIM:105830
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Cerebral atrophy, Umbilical hernia, Long philtrum, Anteverted nares, Micr... ORPHA:171839
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Webbed neck, Cupped ear, Sandal gap, Retrognathia, Umbilical hernia, Micrognathia, Joint contract... OMIM:618914
Multiple Mitochondrial Dysfunctions Syndrome 3
Optic atrophy, Retrognathia, Cerebral atrophy, Polymicrogyria, Respiratory insufficiency, Hypopla... OMIM:615330
Axenfeld-Rieger Syndrome, Type 2
Wide nasal bridge, Hypoplasia of the maxilla, Anal stenosis, Umbilical hernia, Microdontia, Hypod... OMIM:601499
Kyphomelic Dysplasia
Narrow chest, Disproportionate short stature, Limitation of joint mobility, Micromelia, Abnormal ... ORPHA:1801
Osteopathia Striata-Cranial Sclerosis Syndrome
Low-set ears, Delayed cranial suture closure, Micrognathia, Flat occiput, High, narrow palate, Co... ORPHA:2780
Van Maldergem Syndrome 1
Wide nasal bridge, Hypoplasia of the maxilla, Dental malocclusion, Downturned corners of mouth, A... OMIM:601390
Lateral Meningocele Syndrome
Low-set ears, Micrognathia, Cryptorchidism, Short neck, High palate, Patent ductus arteriosus, Bi... OMIM:130720
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Low-set ears, Supernumerary nipple, Recurrent otitis media, Postnatal growth retardation, Overlap... OMIM:213980
Autosomal Recessive Robinow Syndrome
Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger syndactyly, Broad thumb, He... ORPHA:1507
Orofaciodigital Syndrome Ii
Bifid nasal tip, Hypoplasia of the maxilla, Broad nasal tip, Depressed nasal bridge, Micrognathia... OMIM:252100
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microretrognathia, Microglossia, Prominent nasal bridge, Narrow mouth,... ORPHA:1307
Cornelia De Lange Syndrome 2
Gastroesophageal reflux, Downturned corners of mouth, Anteverted nares, Micrognathia, Prominent n... OMIM:300590
Becker Nevus Syndrome
Pectus carinatum, Micromelia, Abnormal tibia morphology, Rib fusion, Supernumerary ribs, Spina bi... ORPHA:64755
Neuropathy, Congenital Hypomyelinating, 3
Narrow palate, Gastroesophageal reflux, Decreased motor nerve conduction velocity, Retrognathia, ... OMIM:618186
Craniodiaphyseal Dysplasia
Wide nasal bridge, Optic atrophy, Depressed nasal bridge, Craniofacial hyperostosis, Diaphyseal u... ORPHA:1513
Marshall-Smith Syndrome
Irregular dentition, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Prominence o... OMIM:602535
Isolated Pierre Robin Syndrome
Neonatal respiratory distress, Micrognathia, Cleft palate, Glossoptosis ORPHA:718
Congenital Disorder Of Glycosylation, Type Iy
Widely spaced teeth, Respiratory distress, Micrognathia, Hypoplasia of the corpus callosum, Micro... OMIM:300934
Adenylosuccinate Lyase Deficiency
Long philtrum, Anteverted nares, Hypointensity of cerebral white matter on MRI, Thin upper lip ve... ORPHA:46
Kbg Syndrome
Bilateral conductive hearing impairment, Cryptorchidism, Short neck, Widely-spaced maxillary cent... ORPHA:2332
Intellectual Developmental Disorder, Autosomal Dominant 23
Wide nasal bridge, Depressed nasal bridge, Dental crowding, Downturned corners of mouth, Long phi... OMIM:615761
Axenfeld-Rieger Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Anal stenosis, Microdontia,... ORPHA:782
Parenti-Mignot Neurodevelopmental Syndrome
Low-set ears, Cupped ear, Frontal bossing, Prominent nasal bridge, Micrognathia, Prominent nasal ... OMIM:619873
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... OMIM:257850
7Q31 Microdeletion Syndrome
Hypoplasia of the maxilla, Hypoplasia of the olfactory bulb, Plagiocephaly, Gastroesophageal refl... ORPHA:251061
Pde4D Haploinsufficiency Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Long philtrum, Frontal bossing, Abnormal denta... ORPHA:439822
Chromosome 6Q24-Q25 Deletion Syndrome
Low-set ears, High, narrow palate, Small hand, Cupped ear, Prominent fingertip pads, Sandal gap, ... OMIM:612863
Sponastrime Dysplasia
Depressed nasal bridge, Frontal bossing, Delayed eruption of permanent teeth, Anteverted nares, A... ORPHA:93357
Genitourinary And/Or Brain Malformation Syndrome
Low-set ears, Abnormality of the outer ear, Ileal atresia, Long philtrum, Polymicrogyria, Joint s... OMIM:618820
Non-Syndromic Bicoronal Craniosynostosis
Proptosis, Hypertelorism ORPHA:35099
Holoprosencephaly 4
Depressed nasal bridge, Semilobar holoprosencephaly, Depressed nasal tip, Median cleft palate, Me... OMIM:142946
Witteveen-Kolk Syndrome
Flared nostrils, Small hand, Toe syndactyly, Clinodactyly, Hearing impairment, Hyperplasia of the... OMIM:613406
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Micrognathia, Respiratory insufficiency due to muscle weakness, Facial pals... OMIM:300580
Meckel Syndrome, Type 8
Low-set ears, Depressed nasal ridge, Narrow chest, Occipital encephalocele, Cleft upper lip, Ence... OMIM:613885
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Short distal phalanx of the thumb, Short 3rd metacarpal, Short to... ORPHA:370010
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hearing impairment, Hypoplastic iliac win... OMIM:609945
Hydrolethalus
Low-set ears, Bifid uvula, Gingival cleft, Micromelia, Retrognathia, Unilateral cleft lip, Low-se... ORPHA:2189
Treacher-Collins Syndrome
Open bite, Micrognathia, Narrow mouth, Encephalocele, High palate, Rectovaginal fistula, Patent d... ORPHA:861
Shprintzen-Goldberg Craniosynostosis Syndrome
Narrow palate, Hypoplasia of the maxilla, Gastroesophageal reflux, Dental malocclusion, Brachytur... OMIM:182212
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Depressed nasal... OMIM:201000
Williams-Beuren Region Duplication Syndrome
Cerebellar vermis hypoplasia, Broad nasal tip, Diastema, Micrognathia, Hypoplasia of the corpus c... OMIM:609757
Frontorhiny
Cranium bifidum occultum, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the corpus callosum, E... ORPHA:391474
Microcephaly With Cervical Spine Fusion Anomalies
Short stature, Spinal instability, Vertebral fusion OMIM:251250
Postaxial Acrofacial Dysostosis
Cupped ear, Finger syndactyly, Conductive hearing impairment, Camptodactyly of finger, Supernumer... ORPHA:246
Aminopterin Syndrome Sine Aminopterin
Umbilical hernia, Micrognathia, Oligodontia, Microcephaly, Brachycephaly, Cleft palate, Macroceph... OMIM:600325
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia OMIM:601809
Tetrasomy 15Q26
Low-set ears, Microretrognathia, Cupped ear, Intrauterine growth retardation, Kyphoscoliosis, Ara... OMIM:614846
Trisomy 1Q
Low-set ears, Abnormality of the outer ear, Toe syndactyly, Narrow mouth, Cryptorchidism, Anophth... ORPHA:261344
Microcephaly-Deafness-Intellectual Disability Syndrome
Low-set ears, Cupped ear, Micrognathia, Abnormal palate morphology, Sensorineural hearing impairm... ORPHA:2533
Multiple Pterygium Syndrome, Escobar Variant
Low-set ears, Intercrural pterygium, Exostosis of the external auditory canal, Micrognathia, Dysp... OMIM:265000
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Cerebral cortical atrophy, Depressed nasal bridge, Micrognathia, Tented upper lip vermilion, Micr... OMIM:620240
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Micrognathia OMIM:166300
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla OMIM:264270
Prieto Syndrome
Low-set ears, Abnormality of the dentition, Clinodactyly, Radial deviation of finger, Retrognathi... OMIM:309610
Qazi-Markouizos Syndrome
High, narrow palate, Prominent nasal bridge, Open mouth, Chronic constipation, Broad philtrum, Ab... ORPHA:3010
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic atrophy, Darwin tubercle of helix, Prominent antihelix, Prominent fingertip pads, Retrognat... OMIM:615722
3Mc Syndrome 2
Wide nasal bridge, Skull asymmetry, Downturned corners of mouth, Cleft upper lip, Depressed nasal... OMIM:265050
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Long philtrum, Prominent nas... ORPHA:50814
Short Stature And Facioauriculothoracic Malformations
Low-set ears, Pectus carinatum, Cupped ear, Cleft upper lip, Cervical ribs, Abnormal odontoid pro... OMIM:609654
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Depressed nasal ridge, Joint dislocation, Short finger, Intrauterine growth retardatio... OMIM:312150
Brachytelephalangic Chondrodysplasia Punctata
Depressed nasal ridge, Hypoplasia of the maxilla, Broad nasal tip, Neonatal respiratory distress,... ORPHA:79345
14Q22Q23 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Hearing impairment, Atresia of the external auditory canal, Mi... ORPHA:264200
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Chorioretinal coloboma, Abnormal tibia mo... ORPHA:138
Pierpont Syndrome
Broad nasal tip, Widely spaced teeth, Feeding difficulties, Malar flattening, Prominent median pa... OMIM:602342
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Low-set ears, Retrognathia, Finger clinodactyly, Abnormal number of incisors, Prominent nose, Cry... ORPHA:2958
Autism Spectrum Disorder Due To Auts2 Deficiency
Wide nasal bridge, Low-set ears, Joint contracture of the hand, Congenital contracture, Arthrogry... ORPHA:352490
Helsmoortel-Van Der Aa Syndrome
Low-set ears, Small hand, Carious teeth, Posterior plagiocephaly, Ankyloglossia, Genu valgum, Cry... OMIM:615873
Nasopalpebral Lipoma-Coloboma Syndrome
Low-set ears, Recurrent upper respiratory tract infections, Hypoplasia of the maxilla, Cupped ear... ORPHA:2399
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Cupped ear, Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Agangl... OMIM:613870
Anophthalmia Plus Syndrome
Aplasia/Hypoplasia of the earlobes, Choanal atresia, Tessier cleft, Deviation of finger, Low-set,... ORPHA:1104
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Hypoplasia of the maxilla, Abnormality of canine, Abnormality of the dentition... ORPHA:363417
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Hearing impairment, Micrognathia, Cryptorchidism, Arachnodactyly, ... ORPHA:280
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Wide nasal bridge, Gastroesophageal reflux, Abnormal pattern of respiration, Enlarged naris, Resp... ORPHA:562528
Acitretin/Etretinate Embryopathy
Hypoplastic nasal septum, Cupped ear, Abnormality of the calcaneus, Anteverted nares, Micrognathi... ORPHA:40366
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma... ORPHA:485
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Overlapping toe, Streak ov... ORPHA:798
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Cutaneous finger syndactyly, Barrel-shaped chest, Hip contracture, Short neck,... OMIM:178110
Pierpont Syndrome
Abnormal cortical gyration, Widely spaced teeth, Malar flattening, Wide nasal ridge, Thin upper l... ORPHA:487825
Acrodysostosis
Wide nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Depressed nasal bridge, Dela... ORPHA:950
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Low-set ears, Small hand, Clinodactyly, Hearing impairment, Overlapping toe, Micrognathia, Narrow... OMIM:309590
Frontonasal Dysplasia 2
Tessier number 13 facial cleft, Encephalocele, Hypoplasia of the corpus callosum, Aplasia of the ... OMIM:613451
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Depressed nasal bridge, Retrognathia, Micrognathia, Hypoplasia of the corpus callosum, Agenesis o... OMIM:618142
Postaxial Acrofacial Dysostosis
Low-set ears, Supernumerary vertebrae, Supernumerary nipple, Postnatal growth retardation, Microg... OMIM:263750
Aicardi Syndrome
Optic atrophy, Plagiocephaly, Gastroesophageal reflux, Cleft upper lip, Polymicrogyria, Optic dis... ORPHA:50
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Diastema, Furrowed tongu... OMIM:300534
Martsolf Syndrome 1
Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Tooth malposition, Long philt... OMIM:212720
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla OMIM:608154
Fraser Syndrome 1
Low-set ears, Atresia of the external auditory canal, Aplasia/Hypoplasia of the sternum, Abnormal... OMIM:219000
Arthrogryposis, Distal, Type 1A
Low-set ears, Hand clenching, Joint contracture of the hand, Overlapping toe, Overlapping fingers... OMIM:108120
Desmosterolosis
Low-set ears, Rhizomelia, Joint contracture of the hand, Hypoplastic nasal bridge, Cupped ear, Fr... OMIM:602398
Van Maldergem Syndrome 2
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Dental malocclusion, Downtu... OMIM:615546
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Low-set ears, Broad thumb, Hearing impairment, Overlapping toe, Cryptorchidism, Talipes equinovar... OMIM:617452
Cerebrooculonasal Syndrome
Low-set ears, Postnatal growth retardation, Encephalocele, Anophthalmia, High palate, Iris colobo... OMIM:605627
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Bowing of the long bones, Abnorm... ORPHA:628
Developmental And Epileptic Encephalopathy 36
Low-set ears, Optic atrophy, Small hand, Microretrognathia, Anteverted nares, Hydrocephalus, Flex... OMIM:300884
Odontochondrodysplasia
Dentinogenesis imperfecta, Depressed nasal bridge, Delayed eruption of teeth, Retrognathia, Respi... ORPHA:166272
Wolf-Hirschhorn Syndrome
Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Low posterior hairline, Talipes e... OMIM:194190
Sandestig-Stefanova Syndrome
Wide nasal bridge, Low-set ears, Clinodactyly, Retrognathia, Underdeveloped tragus, Intrauterine ... OMIM:618804
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Depressed nasal ridge, Joint dislocation, Short finger, Intrauterine growth retardatio... OMIM:253290
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Micrognathia, Thin upper lip vermilion, Short nose, Cleft palate ORPHA:2015
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Retrognathia, Camptodactyly of finger, Low-set,... ORPHA:2631
Larsen-Like Syndrome
Dental malocclusion, Malar flattening, Absent nasal bridge, Brachycephaly, Cleft palate, Macrocep... OMIM:608545
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Pectus carinatum, Hyperplasia of the maxilla, Lumbar hyperlordosis, Butterfly vert... ORPHA:313892
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Micrognathia, Brachycephaly, Spina bifida occulta, Short nose ORPHA:1514
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Thoracic hemivertebrae, Abnormal thorax morphology, Narrow palm, Fused ... ORPHA:1445
Cerebrofacioarticular Syndrome
Wide nasal bridge, Cerebellar vermis hypoplasia, Hypoplasia of the maxilla, Anal stenosis, Anteri... ORPHA:314679
Neuhauser Syndrome
Genu recurvatum, Osteopenia, Wide nasal bridge, Depressed nasal bridge, Cupped ear, Bifid uvula, ... OMIM:249310
Baraitser-Winter Syndrome 1
Low-set ears, Chorioretinal coloboma, Postnatal growth retardation, Cryptorchidism, Sensorineural... OMIM:243310
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Aplasia/Hypoplasia of the tongue, Optic disc coloboma, Trigonocephaly, Anteverted na... ORPHA:1790
X-Linked Intellectual Disability, Snyder Type
Low-set ears, Narrow mouth, Cryptorchidism, Arachnodactyly, Everted lower lip vermilion, High pal... ORPHA:3063
Pallister-Hall Syndrome
Toe syndactyly, Natal tooth, Broad thumb, Radial bowing, Atresia of the external auditory canal, ... ORPHA:672
Xq28 (MECP2) duplication
Depressed nasal bridge, Gastroesophageal reflux, Narrow mouth, Malar flattening, Hypoplasia of th... DECIPHER:45
Coffin-Siris Syndrome 6
Low-set ears, Depressed nasal bridge, High, narrow palate, Broad nasal tip, Conductive hearing im... OMIM:617808
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Thin upper lip vermilion, Abnormal cerebral white matter morphology, Hyperplasia of the maxilla OMIM:618587
Robinow Syndrome
Flared nostrils, Low-set ears, Tooth malposition, Ankyloglossia, Marked delay in eruption of perm... ORPHA:97360
Ck Syndrome
Dental crowding, Retrognathia, Polymicrogyria, Prominent nasal bridge, Micrognathia, Malar flatte... OMIM:300831
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hypoplasia of the maxilla, Micrognathia, Enterocolitis, Death in childhood OMIM:301108
Clark-Baraitser Syndrome
Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Anteverted nares, Exaggerated... OMIM:617752
Chromosome 2P16.1-P15 Deletion Syndrome
Low-set ears, Joint contracture of the hand, Hearing impairment, Postnatal growth retardation, Cr... OMIM:612513
Otopalatodigital Syndrome Type 2
Low-set ears, Synostosis of carpal bones, Elbow dislocation, Hearing impairment, Carpal synostosi... ORPHA:90652
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Anteverted nares, Micrognathi... ORPHA:163649
Bilateral Polymicrogyria
Low-set ears, Central hypothyroidism, Micrognathia, Facial diplegia, Wide mouth, Abnormal glossop... ORPHA:268940
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Unilateral cleft lip, Narrow nasal bridge, Malar flattening, Microcephaly, Brachycephaly, Abnorma... ORPHA:2511
Kagami-Ogata Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Retrognathia, Long philtrum, Anteverted nares,... OMIM:608149
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T... OMIM:272460
Saethre-Chotzen Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Plagiocephaly, Optic atrophy, Prominent crus o... ORPHA:794
Recombinant Chromosome 8 Syndrome
Depressed nasal bridge, Abnormality of the dentition, Downturned corners of mouth, Cerebral atrop... OMIM:179613
Pycnodysostosis
Coronal craniosynostosis, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Abnormal... ORPHA:763
17Q11.2 Microduplication Syndrome
Abnormal dental enamel morphology, Thick nasal alae, Malar flattening, Microcephaly, Enamel hypop... ORPHA:139474
Pontocerebellar Hypoplasia, Type 3
High, narrow palate, Depressed nasal bridge, Optic atrophy, Reduced cerebral white matter volume,... OMIM:608027
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Open bite, Dental crowding, Hyperplasia of the maxilla OMIM:613671
Treacher Collins Syndrome 4
Micrognathia, Malar flattening, Microcephaly, Feeding difficulties in infancy, Choanal stenosis, ... OMIM:618939
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Wide nasal bridge, Dental crowding, Retrognathia, Thick lower lip vermilion, Persis... OMIM:618342
Rapp-Hodgkin Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Carious teeth, Bifid uvula, Velopharyngeal ins... OMIM:129400
German Syndrome
Wide nasal bridge, Depressed nasal bridge, Micrognathia, Open mouth, Brachycephaly, Orofacial cle... ORPHA:2077
Cohen Syndrome
High, narrow palate, Abnormality of the dentition, Hypoplasia of the maxilla, Optic atrophy, Hypo... ORPHA:193
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,... ORPHA:93351
Multiple Synostoses Syndrome 1
Hypoplastic nasal septum, Bilateral conductive hearing impairment, Carpal synostosis, Thick upper... OMIM:186500
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Low-set ears, Optic atrophy, Bifid uvula, Retrognathia, Intrauterine growth retardation, Simplifi... OMIM:620428
Microphthalmia, Syndromic 2
Hand clenching, Cryptorchidism, Anophthalmia, Contracture of the proximal interphalangeal joint o... OMIM:300166
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Low-set ears, Toe syndactyly, Broad thumb, Hearing impairment, Overlapping toe, Cryptorchidism, A... ORPHA:505237
Goldberg-Shprintzen Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the brainstem, Polymicrogyria, Bulbou... OMIM:609460
Shprintzen-Goldberg Syndrome
High, narrow palate, Hypoplasia of the maxilla, Gastroesophageal reflux, Retrognathia, Umbilical ... ORPHA:2462
Pontocerebellar Hypoplasia Type 10
Long palpebral fissure, Highly arched eyebrow, Long eyelashes, Proptosis ORPHA:411493
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Disproportionate short-trunk short stature, Ab... ORPHA:168549
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Bell-shaped thorax, Micrognathia, Encephalocel... OMIM:108720
Baraitser-Winter Syndrome 2
Webbed neck, Hearing impairment, Retrognathia, Long philtrum, Pachygyria, Trigonocephaly, Thin up... OMIM:614583
Nablus Mask-Like Facial Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Abnormality of the dentitio... OMIM:608156
Aicardi Syndrome
Cerebellar vermis hypoplasia, Optic atrophy, Cleft upper lip, Polymicrogyria, Optic disc coloboma... OMIM:304050
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Hand clenching, Overlapping fingers, Micrognathia, Talipes equinovarus, Abnormal pinna morphology... OMIM:618291
Wieacker-Wolff Syndrome
Low-set ears, Micrognathia, Talipes equinovarus, Short neck, High palate, U-Shaped upper lip verm... OMIM:314580
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Wide nasal bridge, Depressed nasal ridge, Plagiocephaly, Underdeveloped nasal alae, Intestinal ma... ORPHA:77300
Andersen Cardiodysrhythmic Periodic Paralysis
Hypoplasia of the maxilla, Dental crowding, Bulbous nose, Persistence of primary teeth, Micrognat... OMIM:170390
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormal hip bone morphology, Micrognathia, Short neck, Hyperlordos... ORPHA:2522
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Platyspondyly, Rhizomelia, Metaphyseal cupping of metacarpals, Metaphyseal cupping, De... OMIM:300863
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Wide nasal bridge, Respiratory distress, Bulbous nose, Micrognathia, Microcephaly, Thin vermilion... ORPHA:261304
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... ORPHA:93315
Eng-Strom Syndrome
Camptodactyly of finger, Intrauterine growth retardation, Brachydactyly, Arthritis, Short stature... ORPHA:1937
Microphthalmia, Syndromic 12
Wide nasal bridge, Broad nasal tip, Retrognathia, Intestinal malrotation, Micrognathia, Cryptorch... OMIM:615524
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Lissencephaly, Bifid uvula, Retrognathia, Skull asymmetry, Umbilical hernia, Intrauterine growth ... OMIM:612938
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Cleft palate, Pierre-Robin sequence OMIM:172880
Fetal Trimethadione Syndrome
Depressed nasal bridge, Micrognathia, Microcephaly, Brachycephaly, High palate, Short nose ORPHA:1913
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Choanal atresia, Cleft lip, Postnatal growth retardation... ORPHA:91412
Craniosynostosis, Herrmann-Opitz Type
Micrognathia, Malar flattening, Turricephaly, Brachycephaly, Convex nasal ridge, Craniosynostosis... ORPHA:2145
Rubinstein-Taybi Syndrome 2
Broad thumb, Carious teeth, Short 5th toe, Micrognathia, High palate, Syndactyly, Prominent finge... OMIM:613684
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Plagiocephaly, Delayed eruption of primary teeth, Supernumerary tooth,... OMIM:620099
Gomez-Lopez-Hernandez Syndrome
Cerebellar vermis hypoplasia, Skull asymmetry, Anteverted nares, Malar flattening, High palate, T... OMIM:601853
Aarskog-Scott Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Cleft upper lip, Anteverted nares, Hypodontia, Shor... OMIM:305400
Gorlin Syndrome
Abnormal vertebral morphology, Palmar pits, Wide nasal bridge, Carious teeth, Vertebral wedging, ... ORPHA:377
Peho-Like Syndrome
Lissencephaly, Optic atrophy, Retrognathia, Polymicrogyria, Open mouth, Pachygyria, Short nose, T... OMIM:617507
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Anteverted nares, Turricephaly, Brachycephaly, Hydrocephalus, Thin ... ORPHA:1532
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Dental crowding, Retrognathia, Stillbirth, Internally rotated shoulder... OMIM:617468
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Talipes equinovarus, Short long bone, Short thorax, Vertebral fusi... OMIM:618845
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Sprengel anomaly, Microphthalmia, Iris coloboma, ... OMIM:109400
Bartsocas-Papas Syndrome 1
Low-set ears, Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Sh... OMIM:263650
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Optic atrophy, Rhizomelia, Narrow chest, Scoliosis, Thoracic hypoplasia, Proximal ... OMIM:602271
Branchiooculofacial Syndrome
Low-set ears, Hearing impairment, Supernumerary nipple, Postnatal growth retardation, Ectopic thy... OMIM:113620
Acrodysostosis 1 With Or Without Hormone Resistance
Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Dental malocclusion, Delayed ... OMIM:101800
Gillessen-Kaesbach-Nishimura Syndrome
Retrognathia, Underdeveloped nasal alae, Micrognathia, Microcephaly, Brachycephaly, Smooth philtr... OMIM:263210
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Wide nasal bridge, Retrognathia, Delayed skeletal maturation, Long philtrum, Wide mouth, Cryptorc... OMIM:619595
Neurogenic Arthrogryposis Multiplex Congenita
Plagiocephaly, Respiratory distress, Scaphocephaly, Micrognathia, Respiratory insufficiency due t... ORPHA:1143
Charge Syndrome
Low-set ears, Postnatal growth retardation, Unilateral microphthalmos, Micrognathia, Cryptorchidi... OMIM:214800
Microcephaly 5, Primary, Autosomal Recessive
Highly arched eyebrow, Proptosis OMIM:608716
Crouzon Syndrome With Acanthosis Nigricans
Proptosis, Hydrocephalus, Hypertelorism OMIM:612247
Meier-Gorlin Syndrome 4
Hypoplasia of the maxilla, Thick lower lip vermilion, Micrognathia, Narrow mouth, Microcephaly, F... OMIM:613804
Premature Aging Syndrome, Penttinen Type
Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathia, Thin calvarium, Narrow nose, ... OMIM:601812
Meier-Gorlin Syndrome 5
Hypoplasia of the maxilla, Gastroesophageal reflux, Long philtrum, Micrognathia, Submucous cleft ... OMIM:613805
Zttk Syndrome
Low-set ears, Small hand, Absent gallbladder, Narrow mouth, High palate, Short foot, Patent ductu... OMIM:617140
Perlman Syndrome
Wide nasal bridge, Low-set ears, High, narrow palate, Retrognathia, Abnormal pancreas morphology,... ORPHA:2849
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota... OMIM:300048
Uruguay Faciocardiomusculoskeletal Syndrome
Low-set ears, Joint contracture of the hand, Hyperplasia of the maxilla, Limited elbow movement, ... OMIM:300280
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Delayed eruption of teeth,... ORPHA:2791
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Retrognathia, Gingival overgrowth, Death in childhood, Smooth philtrum, Lumbar kyp... OMIM:619422
Glycine Encephalopathy With Normal Serum Glycine
Depressed nasal bridge, Optic atrophy, Retrognathia, Trigonocephaly, Anteverted nares, Apnea, Hyp... OMIM:617301
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Wide nasal bridge, Depressed nasal bridge, Carious teeth, Widely spaced teeth, Respiratory distre... OMIM:617102
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Wide nasal bridge, Cupped ear, Anteriorly placed anus, Intrauterine growth retardation, Micrognat... ORPHA:1352
Monosomy 18P
Wide nasal bridge, Tooth malposition, Carious teeth, Downturned corners of mouth, Micrognathia, M... ORPHA:1598
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Brachydactyly, Short stature, Abnormal sacrum morphology, Scoliosis, Shor... ORPHA:1436
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Clinodactyly, High palate, Chronic otitis media, Wide nose, Flat occ... OMIM:614188
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Plagiocephaly, Gastroesophageal reflux, Long philtrum, Frontal bossing, Chronic constipation, Mic... OMIM:619721
Grant Syndrome
Depressed nasal bridge, Open bite, Micrognathia, Abnormal palate morphology, Brachycephaly, Front... ORPHA:2097
Chromosome 1P36 Deletion Syndrome, Distal
Low-set ears, Hearing impairment, Cryptorchidism, Sensorineural hearing impairment, Optic disc pa... OMIM:607872
Branchioskeletogenital Syndrome
Carious teeth, Hypoplasia of the maxilla, Broad nasal tip, Downturned corners of mouth, Submucous... ORPHA:1299
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Intrauterine growt... ORPHA:2370
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Low-set ears, Abnormal ilium morphology, Large fleshy ears, Micrognathia, Open mouth, Anal atresi... OMIM:614080
Christian Syndrome
Wide nasal bridge, Thoracic hemivertebrae, Fused cervical vertebrae, Short stature, Scoliosis, Sh... OMIM:309620
Perching Syndrome
Depressed nasal bridge, Respiratory distress, High palate, Dysphagia, Feeding difficulties OMIM:617055
Kbg Syndrome
Ulnar deviation of the 2nd finger, Cryptorchidism, Low posterior hairline, Short neck, Widely-spa... OMIM:148050
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Optic atrophy, Dental malocclusion, Nasogastric tube feeding, Respiratory distress, Trigonocephal... ORPHA:329178
Andersen-Tawil Syndrome
Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Bulb... ORPHA:37553
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Short neck, Brachydactyly, Clinodactyly of the 5th finger... OMIM:244600
Ear-Patella-Short Stature Syndrome
High, narrow palate, Bifid uvula, Hypoplasia of the maxilla, Retrognathia, Respiratory distress, ... ORPHA:2554
Congenital Disorder Of Glycosylation, Type Ie
High, narrow palate, Depressed nasal bridge, Optic atrophy, Respiratory distress, Secondary micro... OMIM:608799
Acrocraniofacial Dysostosis
Broad thumb, Genu valgum, Micrognathia, Sensorineural hearing impairment, Abnormality of the mall... ORPHA:949
Weaver Syndrome
Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Low-set, posteriorly rotated... ORPHA:3447
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Aplasia/Hypoplasia of the earlobes, Elbow dislocation, Abnormal antihelix morphology, Low posteri... ORPHA:2916
Greenberg Dysplasia
Low-set ears, Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification cen... OMIM:215140
Myhre Syndrome
Low-set ears, Limitation of joint mobility, Clinodactyly, Hearing impairment, Hypoplastic iliac w... OMIM:139210
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Cerebellar vermis hypoplasia, Depressed nasal bridge, Widely spaced teeth, Trigonocephaly, Scapho... ORPHA:459061
Intellectual Disability, Wolff Type
Wide nasal bridge, Short distal phalanx of finger, Broad thumb, Limitation of joint mobility, Mic... ORPHA:3080
Cockayne Syndrome Type 2
Male hypogonadism, Mandibular prognathia, Hearing impairment, Widely spaced primary teeth, Intrau... ORPHA:90322
Weiss-Kruszka Syndrome
Low-set ears, Cupped ear, Hearing impairment, Horizontal crus of helix, Anteverted nares, Overfol... OMIM:618619
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Talipes equinovarus, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tars... OMIM:618469
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Choanal atresia, Depressed nasal bridge, Optic atrophy, Hypoplasia of the zygomatic bone, Anterio... ORPHA:1555
Renpenning Syndrome 1
Joint contracture of the hand, Hearing impairment, Micrognathia, Narrow mouth, Death in childhood... OMIM:309500
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Wide nasal bridge, Depressed nasal bridge, Bifid uvula, Downturned corners of mouth, Long philtru... ORPHA:404440
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose OMIM:122880
Focal Dermal Hypoplasia
Low-set ears, Toe syndactyly, Midclavicular aplasia, Chorioretinal coloboma, Supernumerary nipple... OMIM:305600
Vulto-Van Silfhout-De Vries Syndrome
Thick lower lip vermilion, Frontal bossing, Tented upper lip vermilion, Brachycephaly, High palat... OMIM:615828
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Global brain atrophy, Respiratory insufficiency, Feeding difficulties, Death in infancy, Hyperint... OMIM:611722
Mosaic Trisomy 14
Wide nasal bridge, Narrow chest, Camptodactyly of finger, Low-set, posteriorly rotated ears, Fron... ORPHA:1703
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Broad nasal tip, Prominent ear helix, Large earlobe, Bulbous nose, Anteverted nares, Prominent na... ORPHA:411986
Femoral-Facial Syndrome
Low-set ears, Toe syndactyly, Micrognathia, Cryptorchidism, Encephalocele, Limited elbow movement... OMIM:134780
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Wide nasal bridge, Depressed nasal bridge, Plagiocephaly, Downturned corners of mouth, Umbilical ... ORPHA:369891
Weill-Marchesani Syndrome 1
Depressed nasal bridge, Hypoplasia of the maxilla, Tooth malposition, Abnormal dental morphology,... OMIM:277600
Bohring-Opitz Syndrome
Low-set ears, Supernumerary nipple, Overlapping toe, Micrognathia, Narrow mouth, Bilateral cleft ... OMIM:605039
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Flat... OMIM:251450
Crisponi/Cold-Induced Sweating Syndrome 1
Low-set ears, Carious teeth, Micrognathia, Narrow mouth, Talipes equinovarus, Short neck, High pa... OMIM:272430
Glossopharyngeal Neuralgia
Cranial nerve compression, Schwannoma, Abnormal palate morphology, Abnormal glossopharyngeal nerv... ORPHA:221098
Hypohidrotic Ectodermal Dysplasia
Abnormality of the dentition, Hypoplasia of the maxilla, Xerostomia, Tooth agenesis, Abnormal den... ORPHA:238468
Orofaciodigital Syndrome Xvii
Low-set ears, High, narrow palate, Clinodactyly, Hearing impairment, Retrognathia, Prominent nose... OMIM:617926
Foxp1 Syndrome
Hypoplastic helices, Recurrent upper respiratory tract infections, Broad nasal tip, Mandibular pr... ORPHA:391372
Achondrogenesis Type 1B
Severe short stature, Narrow chest, Disproportionate short stature, Micromelia, Abnormal rib morp... ORPHA:93298
Anauxetic Dysplasia 2
Posterior wedging of vertebral bodies, Delayed skeletal maturation, Cervical spine instability, I... OMIM:617396
Cebalid Syndrome
Depressed nasal ridge, Depressed nasal bridge, Plagiocephaly, Platystencephaly, Polymicrogyria, A... OMIM:618774
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Hyperplasia of the maxilla, Prominent nose, Micrognathia, Microcephaly, High palate, Feeding diff... OMIM:620194
Lowry-Maclean Syndrome
Delayed eruption of teeth, Microcephaly, Convex nasal ridge, Craniosynostosis, Cleft palate OMIM:600252
Cowden Syndrome 5
Hypoplasia of the maxilla, Colonic diverticula, Furrowed tongue, Micrognathia, Narrow mouth, Prog... OMIM:615108
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Wide nasal bridge, Hypoplasia of the maxilla, Cleft lip, Conical tooth, Bilateral choanal atresia... OMIM:106260
Otopalatodigital Syndrome, Type Ii
Low-set ears, Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Postnatal growth re... OMIM:304120
Koolen-De Vries Syndrome
Cryptorchidism, Arachnodactyly, Everted lower lip vermilion, Hip dislocation, High, narrow palate... ORPHA:96169
Pseudodiastrophic Dysplasia
Anteverted nares, Micrognathia, Malar flattening, Smooth philtrum, Brachycephaly, Frontal bossing OMIM:264180
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... OMIM:617405
Congenital Myopathy 10A, Severe Variant
Gastroesophageal reflux, Respiratory insufficiency, Respiratory distress, Abnormal motor nerve co... OMIM:614399
Nemaline Myopathy 9
High palate, Micrognathia, Cleft palate, Respiratory insufficiency OMIM:615731
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Beaking of vertebral bodies, Broad toe, Flat acetabular roof, Short foot,... OMIM:609616
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Low-set ears, Decreased thalamic volume, Retrognathia, Long philtrum, High palate, Rocker bottom ... OMIM:619072
Warsaw Breakage Syndrome
Cupped ear, Hearing impairment, Optic disc coloboma, Postnatal growth retardation, Intrauterine g... OMIM:613398
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Micrognathia, Narrow mouth, Everted lower lip vermilion, Cleft palate ORPHA:2016
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Carious teeth, Abnormality of the nose, Retrognathia, Low-set, posteriorly rotated ears, Malar fl... ORPHA:1390
Okur-Chung Neurodevelopmental Syndrome
Wide nasal bridge, Low-set ears, Cupped ear, Broad hallux, Umbilical hernia, Anteverted nares, Mi... OMIM:617062
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Wide nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Respiratory distress, Anteverted n... ORPHA:438216
Smith-Magenis Syndrome
Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Open mouth, Delayed eruption of primary ... ORPHA:819
Seckel Syndrome 5
Low-set ears, Abnormal cortical gyration, Retrognathia, Delayed skeletal maturation, Selective to... OMIM:613823
Elsahy-Waters Syndrome
High palate, Increased cup-to-disc ratio, Wide nose, Hypoplasia of the maxilla, Impacted tooth, B... OMIM:211380
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Wide nasal bridge, Depressed nasal bridge, Sandal gap, Abnormal form of the vertebral bodies, Abn... ORPHA:2180
Monosomy 5P
Wide nasal bridge, Small hand, Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated... ORPHA:281
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Abnormal thorax morphology, Cleft ala nasi, Cryptorchidism, Anophthal... OMIM:164180
Polyrrhinia
Abnormal external nose morphology, Orofacial cleft, Abnormal nasal bone morphology, Supernumerary... ORPHA:141091
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Wide nasal bridge, Choanal atresia, Bifid nasal tip, Downturned corners of mouth, Underdeveloped ... ORPHA:521308
Distal 17P13.1 Microdeletion Syndrome
Retrognathia, Hypoplasia of the zygomatic bone, Prominent nasal bridge, Unilateral polymicrogyria... ORPHA:319171
Hallermann-Streiff Syndrome
Low-set ears, Thin ribs, Natal tooth, Chorioretinal coloboma, Micrognathia, Narrow mouth, Cryptor... OMIM:234100
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Low-set ears, Meckel diverticulum, Retrognathia, Chorioretinal coloboma, Frontal bossing, Thick n... ORPHA:163961
Oculoauriculofrontonasal Syndrome
Bifid nasal tip, Cleft lip, Underdeveloped nasal alae, Micrognathia, Narrow mouth, Encephalocele,... ORPHA:398156
Smith-Magenis Syndrome
Wide nasal bridge, Abnormality of the dentition, Abnormal nerve conduction velocity, Velopharynge... OMIM:182290
Dworschak-Punetha Neurodevelopmental Syndrome
Depressed nasal bridge, Cupped ear, Optic disc hypoplasia, Large earlobe, Microdontia, Peripheral... OMIM:619955
Chopra-Amiel-Gordon Syndrome
Flared nostrils, Cleft lip, Thick nasal alae, Feeding difficulties, Thin upper lip vermilion, Mic... OMIM:619504
Pitt-Hopkins Syndrome
Flared nostrils, Small hand, Clinodactyly, Supernumerary nipple, Overlapping toe, Open mouth, Cry... OMIM:610954
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Micrognathia, Bell-shaped thorax, Thick anterior alveol... ORPHA:2839
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Wide nasal bridge, Low-set ears, Bifid uvula, Broad nasal tip, Cupped ear, Plagiocephaly, Frontal... OMIM:619480
Familial Visceral Myopathy
Umbilical hernia, Anteverted nares, Micrognathia, Prominent nasal bridge, Microcephaly, Aganglion... ORPHA:2604
Walker-Warburg Syndrome
Low-set ears, Optic atrophy, Bifid uvula, Iris coloboma, Lissencephaly, Abnormal cortical gyratio... ORPHA:899
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Cleft palate OMIM:616570
Richieri-Costa/Guion-Almeida Syndrome
Cleft upper lip, Malar flattening, Microcephaly, Brachycephaly, Spina bifida occulta, Mandibular ... OMIM:268850
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Abnormal oral mucosa morphology, Depressed nasal bridge, Hypoplasia of the maxilla, Conical tooth... OMIM:305100
Insulin-Like Growth Factor I, Resistance To
Low-set ears, Small hand, Clinodactyly, Micrognathia, Narrow mouth, High palate, Short foot, Incr... OMIM:270450
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Basilicata-Akhtar Syndrome
Precocious puberty, Low-set ears, Hearing impairment, Retrognathia, Downturned corners of mouth, ... OMIM:301032
Wieacker-Wolff Syndrome, Female-Restricted
Microretrognathia, Downturned corners of mouth, Long philtrum, Anteverted nares, Feeding difficul... OMIM:301041
Cerebrofaciothoracic Dysplasia
Narrow chest, Cleft upper lip, Low-set, posteriorly rotated ears, Wide mouth, Vertebral segmentat... ORPHA:1394
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Neonatal respiratory distress, Downturned corners of mouth, Anteriorly pl... OMIM:217980
Cowden Syndrome 6
Hypoplasia of the maxilla, Colonic diverticula, Furrowed tongue, Micrognathia, Narrow mouth, Prog... OMIM:615109
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... ORPHA:2064
2P15P16.1 Microdeletion Syndrome
Low-set ears, Hearing impairment, Supernumerary nipple, Narrow mouth, Bilateral single transverse... ORPHA:261349
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Low-set ears, Aplasia of the thymus, Short neck, Sprengel anomaly, Hypoparathyroidism, Patent duc... OMIM:618223
Spondylometaphyseal Dysplasia, X-Linked
Severe short stature, Platyspondyly, Wide nasal bridge, Depressed nasal bridge, Pectus carinatum,... OMIM:313420
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Hypoplasia of the maxilla, Cleft ala nasi, Narrow nasal base, Mandibular prognathia, Wide nose ORPHA:3044
Desmosterolosis
Low-set ears, Abnormal earlobe morphology, Micrognathia, Narrow mouth, Patent ductus arteriosus, ... ORPHA:35107
Mandibulofacial Dysostosis, Guion-Almeida Type
Choanal atresia, Respiratory distress, Trigonocephaly, Anteverted nares, Micrognathia, Malar flat... OMIM:610536
15Q Overgrowth Syndrome
Low-set ears, Abnormality of the outer ear, Contracture of the proximal interphalangeal joint of ... ORPHA:314585
Oculoskeletodental Syndrome
Clinodactyly, Hearing impairment, Sensorineural hearing impairment, Metaphyseal dysplasia, Short ... ORPHA:557003
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Low-set ears, Webbed neck, Underdeveloped nasal alae, Long philtrum, Bulbous nose, Micrognathia, ... OMIM:616549
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Dentinogenesis imperfecta, Pectus carinatum, Disproportionate short-limb short sta... OMIM:259440
Weill-Marchesani Syndrome 2
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow palate, Tooth malposition, Umbilical he... OMIM:608328
Pyruvate Dehydrogenase E1-Alpha Deficiency
Flared nostrils, Wide nasal bridge, Cerebral atrophy, Long philtrum, Anteverted nares, Basal gang... OMIM:312170
Acrofacial Dysostosis 1, Nager Type
Low-set ears, Toe syndactyly, Clinodactyly, Atresia of the external auditory canal, Velopharyngea... OMIM:154400
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Micrognathia, High palate, Patent ductus arteriosus, Macrotia, Short nose, Bulbous nose, Oligodon... OMIM:617061
Scalp-Ear-Nipple Syndrome
Low-set ears, Broad thumb, Finger syndactyly, Underdeveloped tragus, Iris coloboma, Breast aplasi... OMIM:181270
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Aplasia/Hypoplasia involving the nose, Respiratory distress, Narrow mouth, Abnormal... ORPHA:990
Osteoglophonic Dysplasia
Choanal atresia, Hypoplasia of the maxilla, Depressed nasal bridge, Delayed eruption of teeth, Er... OMIM:166250
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Proptosis, Upslanted palpebral fissure OMIM:618492
Larsen Syndrome
Hypoplastic cervical vertebrae, Elbow dislocation, Hearing impairment, Cryptorchidism, Talipes eq... OMIM:150250
Alfadhel Syndrome
Retrognathia, Bulbous nose, Microcephaly, Smooth philtrum, Thin vermilion border, Short philtrum,... OMIM:620655
Muenke Syndrome
Coronal craniosynostosis, Plagiocephaly, Dental malocclusion, Malar flattening, Brachycephaly, Ma... OMIM:602849
Fibrochondrogenesis 2
Anteverted nares, Micrognathia, Malar flattening, Protuberant abdomen, Frontal bossing, Short nose OMIM:614524
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Hearing impairment, Open bite, Genu valgum, Micrognathia, De... ORPHA:1452
Sifrim-Hitz-Weiss Syndrome
Low-set ears, Bifid uvula, Cupped ear, Hearing impairment, Anteriorly placed anus, Trigonocephaly... OMIM:617159
6Q25 Microdeletion Syndrome
Wide nasal bridge, Plagiocephaly, Long philtrum, Micrognathia, Malar flattening, Agenesis of corp... ORPHA:251056
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Cerebral cortical atrophy, Tooth malposition, Optic atrophy, Retrognathia, Prominent nose, Promin... OMIM:619576
Ritscher-Schinzel Syndrome 1
Depressed nasal bridge, Micrognathia, Prominent occiput, Brachycephaly, Hydrocephalus, Anal atres... OMIM:220210
Juberg-Hayward Syndrome
Severe short stature, Abnormal vertebral morphology, Toe syndactyly, Short thumb, Intrauterine gr... ORPHA:2319
16P12.1P12.3 Triplication Syndrome
Short 5th finger, Low-set ears, High, narrow palate, Prominent fingertip pads, Retrognathia, Bila... ORPHA:485405
6Q16 Microdeletion Syndrome
Low-set ears, Depressed nasal bridge, Retrognathia, Bulbous nose, Anteverted nares, Micrognathia,... ORPHA:171829
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ... OMIM:603546
Agnathia-Otocephaly Complex
Microglossia, Respiratory distress, Aglossia, Micrognathia, Narrow mouth, Agenesis of corpus call... OMIM:202650
Mesomelic Limb Shortening And Bowing
Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Micrognathia,... OMIM:249710
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Cerebral cortical atrophy, Downturned corners of mouth, Anteverted nares, Hypoplasia of the corpu... OMIM:618859
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Combined Oxidative Phosphorylation Deficiency 51
Severe short stature, Optic atrophy, Neonatal respiratory distress, Hearing impairment, Intrauter... OMIM:619057
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... OMIM:271650
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Global brain atrophy, Plagiocephaly, Cerebral atrophy, Bulbous nose, Prominent nose, Anteverted n... OMIM:616801
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle weakness, Elbow contracture, Hyperlordosis, Achilles tendon contracture, P... OMIM:606612
Hypoglossia With Situs Inversus
Microglossia, Malnutrition, Respiratory distress, Micrognathia, Narrow mouth, Hypodontia, Feeding... OMIM:612776
Van Den Ende-Gupta Syndrome
High, narrow palate, Depressed nasal bridge, Hypoplasia of the maxilla, Dental crowding, Underdev... OMIM:600920
Parc Syndrome
Microretrognathia, Cleft palate OMIM:600331
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Wide nasal bridge, Rhizomelia, Low-set ears, Abnormal epiphysis morphology, Downtu...