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
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Bulbous nose, Widely-spaced incisors, Hypoplasia of the corpus callosum, Optic atrophy, Hypoplasi... OMIM:618737
Holoprosencephaly 7
Hypoplasia of the premaxilla, Hydrocephalus, Macrocephaly, Alobar holoprosencephaly, Parietal bos... OMIM:610828
Frontofacionasal Dysplasia
Cleft upper lip, Brachycephaly, Malar flattening, Bifid nose, Bifid uvula, Oral cleft, Short nose... OMIM:229400
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Basal ganglia calcification, Craniosynostosis, Microcephaly, Hypoplasia of the maxilla, Prominent... OMIM:608432
Cleft Velum
Nasal regurgitation, Velopharyngeal insufficiency, Aspiration pneumonia, Poor suck, Hypoplasia of... ORPHA:99772
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Convex nasal ridge, Malar flattening, Respiratory insufficiency, Aplasia/Hypoplasi... ORPHA:93262
Maxillonasal Dysplasia
Tooth agenesis, Depressed nasal ridge, Cleft palate, Open bite, Depressed nasal bridge, Abnormali... ORPHA:1248
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cleft palate, Bifid nose, Agenesis of corpus callosum, Cranium bifidum occultum, Hypoplasia of th... ORPHA:306542
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Temporomandibular joint ankylosis, Cleft palate, Feeding difficulties, Aspi... ORPHA:141152
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Gingival overgrowth, Depressed nasal ridge, Retrognathia, Micrognathia, Mic... ORPHA:1832
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Supernumerary vertebral ossification centers, Rib fusion... OMIM:609813
Familial Median Cleft Of The Upper And Lower Lips
Cleft upper lip, Diastema, Fusion of gums, Irregular dentition, Abnormality of the maxilla, Media... ORPHA:401942
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Vertebral segmentation defect, Rib fusion, Short stature, Hemivertebrae, Spina ... OMIM:613686
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Everted lower lip vermilion, Broad nasal tip, Long philtrum, Deep p... OMIM:137550
Crouzon Syndrome
Hydrocephalus, Narrow palate, Convex nasal ridge, Respiratory insufficiency, Cerebellar hypoplasi... ORPHA:207
Isolated Exencephaly
Abnormal facial skeleton morphology, Holoprosencephaly, Depressed nasal bridge, Aplasia/Hypoplasi... ORPHA:563612
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Microcephaly, Hypoplasia of the maxilla, Periventricular leukomalacia, Wide nasal ... OMIM:618302
Holoprosencephaly 9
Cleft upper lip, Dental malocclusion, Hypoplasia of the premaxilla, Hydrocephalus, Malar flatteni... OMIM:610829
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Hydrocephalus, Cerebral atrophy, Prominence of the premaxilla, Hepatic fa... OMIM:614886
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Hartsfield Syndrome
Cleft upper lip, Cleft palate, Craniosynostosis, Microcephaly, Wide nose, Hypoplasia of the front... OMIM:615465
Autosomal Recessive Distal Osteolysis Syndrome
Broad nasal tip, Hypoplasia of the maxilla, Midface retrusion, Abnormality of the dentition ORPHA:2776
Skraban-Deardorff Syndrome
Thick upper lip vermilion, Constipation, Feeding difficulties, Depressed nasal bridge, Hyperplasi... OMIM:617616
Frontonasal Dysplasia 1
Median cleft palate, Broad nasal tip, Bifid nose, Bifid nasal tip, Hypoplastic frontal sinuses, C... OMIM:136760
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal palate morphology, Narrow mouth, Malar flattening, Depressed nasal ridge, Prominence of ... ORPHA:2412
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Severe short stature, Short neck, Scoliosis, Posterior rib fusion,... ORPHA:1797
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Bulbous nose, Micrognathia, Bifid nose, Bifid nasal tip, Brachycephaly, Trigonocephaly OMIM:275595
X-Linked Intellectual Disability, Sutherland-Haan Type
Anal atresia, Microcephaly, Hypoplasia of the maxilla, Mandibular prognathia, Brachycephaly ORPHA:93950
Fg Syndrome Type 1
High palate, Wide mouth, Malrotation of colon, Hydrocephalus, Craniosynostosis, Limited elbow ext... ORPHA:93932
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Severe short stature, Back pain, Short... OMIM:277300
Intellectual Developmental Disorder, X-Linked, Syndromic 14
High palate, Macrocephaly, Hypoplasia of the maxilla, Mandibular prognathia, Chronic constipation... OMIM:300676
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Facial diplegia, Decreased sensory nerve conduction velocity, Decreased motor nerve ... OMIM:218000
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Macrocephaly, Cerebral cortical atrophy, Feeding difficulties, Micrognathia, Cerebellar hypoplasi... OMIM:618291
Craniofacial-Deafness-Hand Syndrome
Narrow mouth, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Depressed nasal bridg... ORPHA:1529
Lujan-Fryns Syndrome
High palate, Macrocephaly, Micrognathia, Abnormality of the dentition, Short philtrum, Hypoplasia... ORPHA:776
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Premature loss of teeth, Convex nasal ridge, Thin vermilion border, Short philtrum, Hypoplasia of... OMIM:156510
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Anal atresia, Narrow mouth, Hydrocephalus, Cleft palate, Holoprosen... ORPHA:2166
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
20P12.3 Microdeletion Syndrome
Narrow mouth, Macrocephaly, Malar flattening, Depressed nasal bridge, Long philtrum, Hypoplasia o... ORPHA:261295
Non-Distal Trisomy 10Q
High palate, Convex nasal ridge, Everted lower lip vermilion, Depressed nasal bridge, Micrognathi... ORPHA:1695
Intellectual Developmental Disorder, Autosomal Recessive 69
Microcephaly, Hyperplasia of the maxilla, Cerebellar hypoplasia OMIM:618383
Craniofacial-Deafness-Hand Syndrome
Short nose, Hypoplasia of the maxilla, Malar flattening OMIM:122880
Pierre Robin Syndrome
Cleft palate, Glossoptosis, Micrognathia, Feeding difficulties in infancy, Upper airway obstructi... OMIM:261800
Osteolysis Syndrome, Recessive
Broad nasal tip, Hypoplasia of the maxilla OMIM:259610
Isolated Arrhinia
Respiratory distress, Aplasia of the nose, Hypoplasia of the nasal bone, Aplasia/Hypoplasia of th... ORPHA:1134
Malan Syndrome
Gingival overgrowth, Narrow mouth, Macrocephaly, Everted lower lip vermilion, Retrognathia, Advan... OMIM:614753
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Macrocephaly, Microcephaly, Hypoplasia of the maxilla, Prominent nasal bridge ORPHA:85279
Nemaline Myopathy 9
High palate, Micrognathia, Respiratory insufficiency, Cleft palate OMIM:615731
Holoprosencephaly 2
Constipation, Alobar holoprosencephaly, Malar flattening, Holoprosencephaly, Microcephaly, Bifid ... OMIM:157170
Neurofaciodigitorenal Syndrome
Hypoplasia of the premaxilla, Plagiocephaly, Abnormal oral mucosa morphology, Mandibular prognath... ORPHA:2673
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, High palate, Cerebral atrophy, Feeding difficulties, Retrognathia, Micrognathia,... OMIM:611890
Jackson-Weiss Syndrome
Convex nasal ridge, Frontal bossing, Hypoplasia of the maxilla, Abnormal palate morphology, Mandi... ORPHA:1540
Microphthalmia With Limb Anomalies
High palate, Hypoplasia of the premaxilla, Cleft upper lip, Hydrocephalus, Cleft palate, Thin ver... ORPHA:1106
Split-Hand/Foot Malformation 3
High palate, Narrow mouth, Microretrognathia, Cleft palate, Hypoplasia of the maxilla OMIM:246560
Femoral-Facial Syndrome
Vertebral segmentation defect, Coxa vara, Sprengel anomaly, Rib fusion, Talipes equinovarus, Apla... ORPHA:1988
Robinow Syndrome, Autosomal Recessive 1
Wide mouth, Pectus excavatum, Triangular mouth, Hypoplastic sacrum, Hypoplasia of the radius, Dep... OMIM:268310
Aarskog-Scott Syndrome
Pectus excavatum, Cleft palate, Abnormality of the dentition, Short neck, Delayed eruption of tee... ORPHA:915
Spondylocostal Dysostosis 5
Butterfly vertebrae, Severe short stature, Hemivertebrae, Short neck, Scoliosis, Posterior rib fu... OMIM:122600
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Kyphosis, Rib fusion, Abnormal intervertebral disk morphology, Sho... ORPHA:2311
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Apert Syndrome
Hydrocephalus, Cleft palate, Depressed nasal bridge, Brachyturricephaly, Delayed eruption of teet... ORPHA:87
Congenital Disorder Of Glycosylation, Type Iu
High palate, Respiratory distress, Feeding difficulties, Micrognathia, Cerebellar hypoplasia, Opt... OMIM:615042
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Cleft palate, Malar flattening, Feeding difficulties, Micrognathia, Shor... ORPHA:79113
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Narrow mouth, Retrognathia, Microcephaly, Brachycephaly ORPHA:2528
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Bulbous nose, Short philtrum, Hypoplasia of the maxilla ORPHA:93945
Stickler Syndrome Type 1
Short nose, Hypoplasia of the maxilla, Long philtrum, Cleft palate ORPHA:90653
Keipert Syndrome
Macrocephaly, Depressed nasal bridge, Hypoplasia of the maxilla, Tented upper lip vermilion, Exag... ORPHA:2662
Sweeney-Cox Syndrome
High palate, Cleft palate, Overfolded helix, Short philtrum, Cutaneous syndactyly, Bilateral cryp... OMIM:617746
Atelosteogenesis, Type Iii
Cleft palate, Malar flattening, Depressed nasal bridge, Micrognathia, Prominent occiput, Frontal ... OMIM:108721
Intellectual Developmental Disorder, Autosomal Dominant 1
Wide mouth, Bulbous nose, Depressed nasal ridge, Hemivertebrae, Microdontia, Short nose, Sandal g... OMIM:156200
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck, Disprop... OMIM:608681
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Macrocephaly, Craniosynostosis, Optic atrophy, Broad jaw, Thickened calvaria, Facial palsy, Brach... ORPHA:178377
Hypomandibular Faciocranial Dysostosis
Pursed lips, Malar flattening, Coronal craniosynostosis, Micrognathia, Optic disc coloboma, Aglos... OMIM:241310
Microcephaly-Capillary Malformation Syndrome
Cerebral atrophy, Cleft palate, Hypoplasia of the corpus callosum, Optic atrophy, Wide nose, Shor... OMIM:614261
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Mandibular condyle hypoplasia, Micrognathia ORPHA:2975
Myasthenic Syndrome, Congenital, 19
High palate, Low-set ears, Spinal rigidity, Retrognathia, Micrognathia, Respiratory insufficiency... OMIM:616720
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Short stature, Scoliosis, Pectus carinatum, Radioulnar synostosis... ORPHA:3268
Trisomy 13
Abnormal antihelix morphology, Abnormal helix morphology, Cleft palate, Abnormality of the dentit... ORPHA:3378
Lowry-Maclean Syndrome
Hydrocephalus, Trigonocephaly, Convex nasal ridge, High, narrow palate, Cleft palate, Craniosynos... ORPHA:2409
Multiple Mitochondrial Dysfunctions Syndrome 3
High palate, Cerebral atrophy, Feeding difficulties, Retrognathia, Respiratory insufficiency, Mic... OMIM:615330
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Crowded maxillary incisors, Macrocephaly, Hypoplasia of the maxilla ORPHA:397973
Kleeblattschaedel
Hydrocephalus, Proptosis OMIM:148800
Intellectual Developmental Disorder, Autosomal Dominant 26
Wide mouth, Narrow mouth, Prominent nasal tip, Feeding difficulties, Depressed nasal bridge, Micr... OMIM:615834
Auriculocondylar Syndrome 1
Cleft at the superior portion of the pinna, Dental malocclusion, Narrow mouth, Apnea, Cleft palat... OMIM:602483
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... ORPHA:2345
Intellectual Developmental Disorder, Autosomal Dominant 64
High palate, Bulbous nose, Clinodactyly of the 5th finger, Plagiocephaly, Prominent fingertip pad... OMIM:619188
Coffin-Lowry Syndrome
High palate, Wide mouth, Depressed nasal bridge, Delayed eruption of teeth, Advanced eruption of ... ORPHA:192
Cohen Syndrome
Thick corpus callosum, Convex nasal ridge, Macrodontia of permanent maxillary central incisor, Hi... OMIM:216550
8Q22.1 Microdeletion Syndrome
Depressed nasal ridge, Craniosynostosis, Abnormality of the nares, Abnormality of the dentition, ... ORPHA:178303
Mandibulofacial Dysostosis With Alopecia
Low-set ears, Conductive hearing impairment, Protruding ear, Cleft palate, Everted lower lip verm... OMIM:616367
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Depressed nasal bridge, Cone-shaped epiphysis, Platyspond... OMIM:156530
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
High palate, Pectus excavatum, Short neck, Optic disc coloboma, Bilateral cryptorchidism, Retrogn... OMIM:300472
Myopathy, Congenital, Bailey-Bloch
High palate, Cleft palate, Feeding difficulties, Micrognathia, Microcephaly, Downturned corners o... OMIM:255995
Diaphanospondylodysostosis
Myelomeningocele, Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Absent... ORPHA:66637
Potocki-Shaffer Syndrome
Parietal foramina, Broad nasal tip, Depressed nasal tip, Micrognathia, Short philtrum, Downturned... ORPHA:52022
Premature Aging Syndrome, Penttinen Type
Thin vermilion border, Micrognathia, Thin calvarium, Narrow nose, Delayed eruption of teeth, Midf... OMIM:601812
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
High palate, Sensorineural hearing impairment, Abnormal pinna morphology, Pectus excavatum, Cleft... ORPHA:52055
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Depressed nasal bridge, Single transverse palmar crease, Short nose, S... OMIM:206920
Van Maldergem Syndrome 1
High palate, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Tented upper lip vermi... OMIM:601390
Hyperphosphatasia-Intellectual Disability Syndrome
High palate, Bulbous nose, Pectus excavatum, Short philtrum, Short neck, Tented upper lip vermili... ORPHA:247262
Pfeiffer Syndrome
High palate, Hydrocephalus, Coronal craniosynostosis, Depressed nasal bridge, Brachyturricephaly,... OMIM:101600
Poland Syndrome
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... OMIM:173800
Dysostosis, Stanescu Type
Tooth agenesis, Convex nasal ridge, Macroglossia, Cerebral calcification, Abnormal nasal morpholo... ORPHA:1798
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Short philtrum, Diastema, Overhanging nasal tip, Hypoplasia of the maxil... OMIM:619142
Cataract-Intellectual Disability-Hypogonadism Syndrome
High palate, Cerebral cortical atrophy, Tooth malposition, Malar flattening, Everted lower lip ve... ORPHA:1387
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Hydrocephalus, Feeding difficulties, Micrognathia, Unilambdoid synostosis, Long ph... OMIM:618577
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal sclerosis, Platyspondyly, Hypoplasia of the capital femoral epiphysis, Pectus carinat... OMIM:609052
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed cranial suture closure,... OMIM:113000
Pallister-Hall Syndrome
Cleft palate, Hypothalamic hamartoma, Decreased circulating cortisol level, Depressed nasal bridg... OMIM:146510
Multiple Synostoses Syndrome 2
Carpal synostosis, Talipes equinovarus, Vertebral fusion, Brachydactyly, Proximal symphalangism, ... OMIM:610017
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis, Micrognathia, Upper airway obstruction, Neonatal respiratory distress ORPHA:718
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Cleft palate, Hemivertebrae, Pectus carinatum, Radioulnar synostosis, Single transverse palmar cr... OMIM:614701
Marshall Syndrome
High palate, Thick upper lip vermilion, Malar flattening, Cleft palate, Cerebral calcification, D... ORPHA:560
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Mandibular osteomyelitis, Abnormal number of teeth, Abnormal cementum morpho... ORPHA:83451
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Wide mouth, Slender nose, Constipation, Feeding difficulties, Gastroesophageal reflux, Micrognath... OMIM:615419
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Macrocephaly, Malar flattening, Hypoplasia of the maxilla, Abnormal auditory evoke... OMIM:109120
Dental Anomalies And Short Stature
Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla, Mandibular prognathia, ... OMIM:601216
Metatropic Dysplasia
Narrow chest, Joint stiffness, Hydrocephalus, Halberd-shaped pelvis, Clinodactyly of the 5th fing... ORPHA:2635
Chondrodysplasia Punctata, Autosomal Dominant
Frontal bossing, Hypoplasia of the nasal bone OMIM:118650
Marshall-Smith Syndrome
High palate, Apnea, Airway obstruction, Hydrocephalus, Craniosynostosis, Depressed nasal bridge, ... OMIM:602535
Nager Syndrome
Wide mouth, Cleft palate, Micrognathia, Abnormal nasal morphology, Respiratory insufficiency, Hyp... ORPHA:245
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... ORPHA:90650
Crouzon Syndrome
Sleep apnea, Coronal craniosynostosis, Optic atrophy, Frontal bossing, Sagittal craniosynostosis,... OMIM:123500
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Micrognathia, Prominent nose, Supernumerary ribs, Vertebral fusion OMIM:221950
Acrocraniofacial Dysostosis
Abnormal pinna morphology, Pectus excavatum, Cleft palate, Craniosynostosis, Short 1st metacarpal... ORPHA:949
Achondrogenesis Type 1A
Macrocephaly, Abdominal distention, Micrognathia, Long philtrum, Frontal bossing, Short nose, Umb... ORPHA:93299
Distal Xq28 Microduplication Syndrome
High palate, Asthma, Broad nasal tip, Recurrent upper respiratory tract infections, Microcephaly,... ORPHA:293939
Craniodiaphyseal Dysplasia, Autosomal Dominant
Facial diplegia, Thickened ribs, Cortical sclerosis, Diaphyseal sclerosis, Short stature, Papille... OMIM:122860
Van Maldergem Syndrome 2
High palate, Dental malocclusion, Wide anterior fontanel, Gray matter heterotopia, Malar flatteni... OMIM:615546
Gorlin-Chaudhry-Moss Syndrome
Coronal craniosynostosis, Abnormality of the dentition, Oligodontia, Aplasia/Hypoplasia of the na... ORPHA:2095
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Microretrognathia, Feeding difficulties, Dolichocephaly, Cerebral calcifica... ORPHA:89844
Chromosome 3Pter-P25 Deletion Syndrome
High palate, Bulbous nose, Overfolded helix, Broad nasal tip, Depressed nasal bridge, Tapered fin... OMIM:613792
Branchiootorenal Syndrome 1
High palate, Cleft palate, Branchial fistula, Congenital hip dislocation, Microdontia, Euthyroid ... OMIM:113650
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal ... ORPHA:2790
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Respiratory distress, Hydrocephalus, Prominent fingertip pads, Sandal gap, Anteriorl... OMIM:612863
Seckel Syndrome 4
Short stature, Retrognathia, 11 pairs of ribs, Steep acetabular roof, Low-set ears, Intrauterine ... OMIM:613676
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Wide mouth, Feeding difficulties, Micrognathia, Microcephaly, Hypoplasia of... OMIM:300934
Holoprosencephaly
Abnormal antihelix morphology, Hydrocephalus, Depressed nasal ridge, Depressed nasal tip, Short n... ORPHA:2162
Hamel Cerebro-Palato-Cardiac Syndrome
Bulbous nose, Narrow mouth, Cleft palate, Malar flattening, Arachnodactyly, Micrognathia, Cupped ... ORPHA:93946
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Long philtrum, Hypoplasia of the maxilla, Thick vermilion border, Anteverted n... ORPHA:228396
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Pectus excavatum, Attached earlobe, Depressed nasal bridge, Pectus carinatum, Short ... ORPHA:1327
Holoprosencephaly 11
Hypotelorism, Thick eyebrow, Holoprosencephaly, Proptosis, Synophrys OMIM:614226
Kabuki Syndrome 2
High palate, Cleft palate, Prominent fingertip pads, Broad nasal tip, Depressed nasal tip, Intrau... OMIM:300867
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Cleft palate, Micrognathia, Periventricular nodular heterotopia, Cortica... OMIM:617201
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Thick upper lip vermilion, Wide mouth, Mandibular prognathia, Brachycephaly, Thick lower lip verm... OMIM:309545
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Nablus Mask-Like Facial Syndrome
High palate, Narrow mouth, Craniosynostosis, Retrognathia, Depressed nasal bridge, Abnormality of... OMIM:608156
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Narrow mouth, Macrodontia of permanent maxillary central incisor, Thin vermi... OMIM:257850
Zaki Syndrome
High palate, Wide mouth, Ectrodactyly, Short stature, Micrognathia, Short philtrum, Cupped ear, H... OMIM:619648
Acrodysostosis
Depressed nasal ridge, Open bite, Depressed nasal bridge, Delayed eruption of teeth, Short nose, ... ORPHA:950
Intellectual Developmental Disorder, X-Linked 104
High palate, Abnormal pinna morphology, Retrognathia, Optic atrophy, Bifid nasal tip, Trigonoceph... OMIM:300983
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
2Q32Q33 Microdeletion Syndrome
High palate, Dental crowding, Narrow mouth, Convex nasal ridge, Cleft palate, Feeding difficultie... ORPHA:251019
Axenfeld-Rieger Syndrome
Hypodontia, Everted lower lip vermilion, Depressed nasal bridge, Microdontia, Hypoplasia of the m... ORPHA:782
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Alveolar pr... ORPHA:2972
Cornelia De Lange Syndrome 5
High palate, Gastroesophageal reflux, Cleft palate, Retrognathia, Broad nasal tip, Depressed nasa... OMIM:300882
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Pectus excavatum, Cleft palate, Radial deviation of the 2nd finger, Depressed nasa... OMIM:304120
Autosomal Recessive Multiple Pterygium Syndrome
High palate, Abnormality of the tongue, Pectus excavatum, Cleft palate, Symphalangism affecting t... ORPHA:2990
Osteopathia Striata-Cranial Sclerosis Syndrome
Cleft palate, Delayed eruption of teeth, Abnormal metaphysis morphology, Severe short stature, Hi... ORPHA:2780
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Dilatated internal auditor... OMIM:602588
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
High palate, Macrocephaly, Long nose, Micrognathia, Short philtrum, Narrow nose, Narrow nasal bri... OMIM:309520
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Thick corpus callosum, Plagiocephaly, Malar flattening, Depressed nasal ridge, Dolichocephaly, Sh... OMIM:618672
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Pectus excavatum, Hemivertebrae, Pectus carinatum, Mandibular prognathia, Spinal c... OMIM:263540
Distal Tetrasomy 15Q
High palate, Hydrocele testis, Hydrocephalus, Sensorineural hearing impairment, Abnormal helix mo... ORPHA:314588
Sponastrime Dysplasia
Relative macrocephaly, Depressed nasal bridge, Midface retrusion, Hypoplasia of the nasal bone, M... ORPHA:93357
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Wide mouth, High, narrow palate, Abnormal lip morphology, Feeding difficult... ORPHA:2707
Tetralogy Of Fallot
Proptosis OMIM:187500
Angelman Syndrome
Wide mouth, Cerebral cortical atrophy, Constipation, Macroglossia, Feeding difficulties in infanc... OMIM:105830
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Undulate ribs, Micrognathia, Micromelia, Abnormal form of the vert... ORPHA:1801
Lateral Meningocele Syndrome
High palate, Pectus excavatum, Short neck, Biconcave vertebral bodies, Short nasal bridge, Umbili... OMIM:130720
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Narrow mouth, Macrocephaly, Microretrognathia, Cleft palate, Microdontia, Hypoplasia... ORPHA:1307
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Dolichocephaly, Depressed nasal bridge, Cupped ear, Coloboma, Hyp... OMIM:167730
Ververi-Brady Syndrome
High palate, Wide mouth, Bulbous nose, Metaphyseal irregularity, Clinodactyly of the 5th finger, ... OMIM:617982
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Cerebral atrophy, Malar flattening, Craniosynostosis, Thin vermilion border, Depre... ORPHA:171839
Pde4D Haploinsufficiency Syndrome
Prominent nasal tip, Malar flattening, Depressed nasal bridge, Micrognathia, Short philtrum, Long... ORPHA:439822
Rapp-Hodgkin Syndrome
Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Depressed ... OMIM:129400
Pierre Robin Sequence With Facial And Digital Anomalies
Cleft palate, Glossoptosis, Micrognathia, Frontal bossing, Pierre-Robin sequence OMIM:311895
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
2-3 toe syndactyly, Joint contracture of the 4th finger, Retrognathia, Micrognathia, Cupped ear, ... OMIM:618914
Becker Nevus Syndrome
Kyphosis, Rib fusion, Pectus excavatum, Micromelia, Scoliosis, Abnormality of tibia morphology, S... ORPHA:64755
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Retrognathia, Depressed nasal bridge, Short nose, Pneumonia, Anteverted nares, Growt... OMIM:614069
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus, Hypodontia, Everted lower lip vermilion, Short philtrum, Microdontia, Hypoplasia o... OMIM:601499
Meckel Syndrome, Type 8
Cleft upper lip, Low-set ears, Talipes equinovarus, Cleft palate, Depressed nasal ridge, Short ne... OMIM:613885
Shprintzen-Goldberg Craniosynostosis Syndrome
High palate, Dental malocclusion, Wide anterior fontanel, Narrow palate, Gastroesophageal reflux,... OMIM:182212
Craniodiaphyseal Dysplasia
Short stature, Depressed nasal bridge, Wide nasal bridge, Optic atrophy, Abnormal rib morphology,... ORPHA:1513
Arthrogryposis, Distal, Type 1C
High palate, Pursed lips, Cleft palate, Short neck, Rocker bottom foot, Limited head rotation, Cl... OMIM:619110
Mohr Syndrome
High palate, Accessory oral frenulum, Agenesis of central incisor, Hydrocephalus, Malar flattenin... OMIM:252100
Frias Syndrome
Downslanted palpebral fissures, Hypertelorism, Proptosis, Ptosis OMIM:609640
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Short stature, Craniosy... OMIM:178110
Intellectual Developmental Disorder, Autosomal Dominant 23
Dental crowding, Bulbous nose, Feeding difficulties, Depressed nasal bridge, Micrognathia, Long p... OMIM:615761
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft palate, Tracheoesophageal fistula, Abnormality of the dentition, B... ORPHA:861
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Tooth agenesis, Depressed nasal ridge, Bilateral cleft lip and palate, Meningocele, Absent nasal ... ORPHA:2003
Verheij Syndrome
Growth delay, Short stature, Hemivertebrae, Short neck, Short 5th finger, Scoliosis, Short nose, ... OMIM:615583
Autosomal Recessive Robinow Syndrome
Wide mouth, Pectus excavatum, Depressed nasal bridge, Abnormality of the dentition, Short philtru... ORPHA:1507
Hydrolethalus
Low-set ears, Hydrocephalus, Cleft palate, Abnormality of the sense of smell, Retrognathia, Micro... ORPHA:2189
Cornelia De Lange Syndrome 2
High palate, Gastroesophageal reflux, Micrognathia, Microcephaly, Downturned corners of mouth, Th... OMIM:300590
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Hemivertebrae, Short neck, Short n... OMIM:213980
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Poor suck, Micrognathia, Frontalis muscle weakness, Facial palsy, Respirato... OMIM:300580
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
High palate, Bulbous nose, Feeding difficulties, Thin vermilion border, Long philtrum, Vomiting, ... ORPHA:481152
Kbg Syndrome
Cleft palate, Cutaneous syndactyly, Short neck, Macrodontia, Bilateral conductive hearing impairm... ORPHA:2332
Megalocornea-Mental Retardation Syndrome
High palate, Large fleshy ears, Genu recurvatum, Short stature, Arachnodactyly, Depressed nasal b... OMIM:249310
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Abnormality of the middle ear, Supernumerary nipple, Cleft palate,... ORPHA:246
Parenti-Mignot Neurodevelopmental Syndrome
Prominent nasal tip, Microtia, Craniosynostosis, Micrognathia, Short philtrum, Cupped ear, Fronta... OMIM:619873
Genitourinary And/Or Brain Malformation Syndrome
Low-set ears, Protruding ear, Gray matter heterotopia, Joint stiffness, Kyphoscoliosis, Acrania, ... OMIM:618820
Adenylosuccinate Lyase Deficiency
Microcephaly, Long philtrum, Short nose, Flat occiput, Thin upper lip vermilion, Hypointensity of... ORPHA:46
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
High palate, Pectus excavatum, Craniosynostosis, Overfolded helix, Hypoplasia of the radius, Shor... OMIM:609945
Prieto Syndrome
Low-set ears, Talipes equinovarus, Retrognathia, Abnormality of the dentition, 11 pairs of ribs, ... OMIM:309610
Fetal Akinesia Deformation Sequence 4
High palate, Low-set ears, Kyphosis, Flexion contracture, Retrognathia, Micrognathia, Short neck,... OMIM:618393
Acrodysostosis With Multiple Hormone Resistance
Malar flattening, Absent/hypoplastic paranasal sinuses, Depressed nasal bridge, Hypoplasia of the... ORPHA:280651
Carpenter Syndrome 1
High palate, Persistence of primary teeth, Cerebral atrophy, Malar flattening, Coronal craniosyno... OMIM:201000
Witteveen-Kolk Syndrome
High palate, Depressed nasal bridge, Branchial fistula, Short philtrum, Short nose, Open mouth, M... OMIM:613406
Frontorhiny
Basal encephalocele, Cleft palate, Bifid tongue, Hypoplastic frontal sinuses, Cranium bifidum occ... ORPHA:391474
Pycnodysostosis
Obtuse angle of mandible, Dental malocclusion, High palate, Cerebral dysmyelination, Convex nasal... ORPHA:763
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
High palate, Wide mouth, Uplifted earlobe, Protruding ear, Prominent fingertip pads, Retrognathia... OMIM:615722
Aminopterin Syndrome Sine Aminopterin
High palate, Macrocephaly, Cleft palate, Micrognathia, Oligodontia, Microcephaly, Frontal bossing... OMIM:600325
Schinzel-Giedion Syndrome
High palate, Wide mouth, Respiratory distress, Abnormal clavicle morphology, Abnormal helix morph... ORPHA:798
Arthrogryposis, Distal, Type 1A
Congenital hip dislocation, Single transverse palmar crease, Rocker bottom foot, Calcaneovalgus d... OMIM:108120
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability, Short stature OMIM:251250
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Cleft upper lip, Selective tooth agenesis, Hypodontia, Cleft palate, Bilateral choanal atresia, W... OMIM:106260
Multiple Pterygium Syndrome, Escobar Variant
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Short neck, Down-slopin... OMIM:265000
Multicentric Carpotarsal Osteolysis Syndrome
Micrognathia, Hypoplasia of the maxilla OMIM:166300
Trisomy 1Q
Hydrocephalus, Cleft palate, Depressed nasal bridge, Abnormality of the outer ear, Anal atresia, ... ORPHA:261344
Microcephaly-Deafness-Intellectual Disability Syndrome
Sensorineural hearing impairment, Protruding ear, Everted lower lip vermilion, Short stature, Mic... ORPHA:2533
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Everted lower lip vermilion, Retrognathia, Overfolded helix, Cupped ear, Joint hypermobility, Low... OMIM:617101
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Cryptorchidism, Bilateral talipes equinovarus, Retrognathia, Finger clinodactyly, Osteoporosis, P... ORPHA:2958
Osteogenesis Imperfecta, Type Xii
High palate, Narrow mouth, Malar flattening, Depressed nasal bridge, Micrognathia, Brachyturricep... OMIM:613849
14Q22Q23 Microdeletion Syndrome
Delayed skeletal maturation, Clinodactyly of the 5th finger, Micrognathia, Cupped ear, Anophthalm... ORPHA:264200
Kagami-Ogata Syndrome
Retrognathia, Depressed nasal bridge, Micrognathia, Long philtrum, Frontal bossing, Hypoplasia of... OMIM:608149
Acrofacial Dysostosis, Cincinnati Type
Cleft palate, Retrognathia, Micrognathia, Microcephaly, Choanal atresia, Hypoplasia of the maxill... OMIM:616462
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Cervical C2/C3 vertebral fusion, Short distal phalanx of the thum... ORPHA:370010
Short Stature And Facioauriculothoracic Malformations
Cleft upper lip, High palate, Pectus excavatum, Cleft palate, Microtia, Overfolded helix, Cupped ... OMIM:609654
Spondylospinal Thoracic Dysostosis
Micrognathia, Hypoplasia of the maxilla OMIM:601809
Goldberg-Shprintzen Syndrome
Bulbous nose, Everted lower lip vermilion, Short philtrum, Microcephaly, Polymicrogyria, Hypoplas... OMIM:609460
Aicardi Syndrome
Cleft upper lip, Gray matter heterotopia, Hiatus hernia, Cleft palate, Prominence of the premaxil... OMIM:304050
Cerebrofacioarticular Syndrome
Narrow mouth, Gray matter heterotopia, Dysplastic corpus callosum, Tracheomalacia, Micrognathia, ... ORPHA:314679
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Abnormality of cartilage of external ear, Severe postnatal growth... ORPHA:2399
Brachytelephalangic Chondrodysplasia Punctata
Asthma, Gastroesophageal reflux, Depressed nasal ridge, Feeding difficulties, Broad nasal tip, Op... ORPHA:79345
Autism Spectrum Disorder Due To Auts2 Deficiency
Low-set ears, Narrow mouth, Prominent nasal tip, Decreased palmar creases, Joint contracture of t... ORPHA:352490
Baller-Gerold Syndrome
High palate, Hydrocephalus, Cleft palate, Hypoplasia of the radius, Brachyturricephaly, Polymicro... OMIM:218600
Pierpont Syndrome
Prominent median palatal raphe, Malar flattening, Everted lower lip vermilion, Thin vermilion bor... OMIM:602342
Acitretin/Etretinate Embryopathy
High palate, Median cleft palate, Hypoplastic nasal septum, Aplasia/Hypoplasia of the maxilla, Mi... ORPHA:40366
Aicardi Syndrome
Cleft upper lip, Malabsorption, Plagiocephaly, Hiatus hernia, Constipation, Cleft palate, Promine... ORPHA:50
3Mc Syndrome 2
Cleft upper lip, Cleft palate, Prominence of the premaxilla, Craniosynostosis, Depressed nasal ti... OMIM:265050
Saethre-Chotzen Syndrome
Sleep apnea, Plagiocephaly, Narrow palate, Convex nasal ridge, Cleft palate, Craniosynostosis, Op... ORPHA:794
Postaxial Acrofacial Dysostosis
Pectus excavatum, Cleft palate, Hypoplasia of the radius, Congenital hip dislocation, Radioulnar ... OMIM:263750
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Narrow mouth, Tooth malposition, Hypodontia, Micrognathia, Abnormality ... ORPHA:363417
Martsolf Syndrome 1
High palate, Tooth malposition, Tracheomalacia, Broad nasal tip, Depressed nasal bridge, Microgna... OMIM:212720
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Velopharyngeal insufficiency, Malar flattening, Short stature, ... OMIM:182290
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Dolichocephaly, Depressed nasal bridge, Protuberant abdomen, Hypoplasia of ... OMIM:617102
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
High palate, Wide mouth, Bulbous nose, Pectus excavatum, Craniosynostosis, Broad nasal tip, Depre... OMIM:309590
Non-Syndromic Bicoronal Craniosynostosis
Hypertelorism, Proptosis ORPHA:35099
Holoprosencephaly 4
Depressed nasal bridge, Depressed nasal tip, Median cleft lip and palate, Absent nasal septal car... OMIM:142946
Meier-Gorlin Syndrome 4
Narrow mouth, Feeding difficulties, Micrognathia, Microcephaly, Hypoplasia of the maxilla, Emphys... OMIM:613804
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Vertebral segmentation defect, Cleft palate, Abnormal hip bone morphology, Thin vermilion border,... ORPHA:2631
Charge Syndrome
Cleft palate, Overfolded helix, Depressed nasal bridge, Tracheoesophageal fistula, Hemivertebrae,... ORPHA:138
Desmosterolosis
Alveolar ridge overgrowth, Hydrocephalus, Joint contracture of the hand, Cleft palate, Bilateral ... OMIM:602398
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Bulbous nose, Abnormal autonomic nervous system physiology, Flexion contracture, Cupped ear, Tape... OMIM:613870
Odontochondrodysplasia
Respiratory distress, Dentinogenesis imperfecta, Retrognathia, Depressed nasal bridge, Delayed er... ORPHA:166272
Ring Chromosome 21 Syndrome
Holoprosencephaly, Small hand, Short stature, Fused thoracic vertebrae, Syndactyly, Scoliosis, Na... ORPHA:1445
Baraitser-Winter Syndrome 1
Wide mouth, Overfolded helix, Short neck, Short nose, Microphthalmia, Pachygyria, Midface retrusi... OMIM:243310
Pallister-Hall Syndrome
Central adrenal insufficiency, Depressed nasal ridge, Cleft palate, Hypothalamic hamartoma, Hemiv... ORPHA:672
Qazi-Markouizos Syndrome
Abdominal distention, High, narrow palate, Open mouth, Hypoplasia of teeth, Broad philtrum, Chron... ORPHA:3010
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Micrognathia, Cleft palate OMIM:172880
Hypomandibular Faciocranial Dysostosis
Narrow mouth, Trigonocephaly, Aplasia/Hypoplasia of the tongue, Cleft palate, Craniosynostosis, M... ORPHA:1790
Perching Syndrome
High palate, Respiratory distress, Feeding difficulties, Depressed nasal bridge, Dysphagia OMIM:617055
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Premature loss of teeth, Thin vermilion border, Long philtrum, Delayed e... ORPHA:50814
X-Linked Intellectual Disability, Snyder Type
High palate, Bulbous nose, Testicular atrophy, Pectus excavatum, Cleft palate, Abnormality of the... ORPHA:3063
Gorlin Syndrome
Hydrocephalus, Mandibular prognathia, Arachnodactyly, Hemivertebrae, Vertebral fusion, Abnormalit... ORPHA:377
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
High palate, Macrocephaly, Micrognathia, Recurrent upper respiratory tract infections, Microcepha... OMIM:300534
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Depressed nasal bridge, Short neck, Platyspondyly... ORPHA:485
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla OMIM:608154
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Depressed nasal ridge, Micr... OMIM:312150
Williams-Beuren Region Duplication Syndrome
High palate, Hydrocephalus, Macrocephaly, Broad nasal tip, Short philtrum, Micrognathia, Diastema... OMIM:609757
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Bulbous nose, Feeding difficulties, Thin vermilion border, Micrognathia, Sh... ORPHA:261304
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
High palate, Abnormal pinna morphology, Short neck, Down-sloping shoulders, Tapered finger, Intra... OMIM:617452
Fraser Syndrome 1
Hydrocephalus, Abnormal pinna morphology, Cleft palate, Depressed nasal bridge, Cleft ala nasi, A... OMIM:219000
Craniodigital-Intellectual Disability Syndrome
Micrognathia, Spina bifida occulta, Narrow nasal bridge, Short nose, Brachycephaly ORPHA:1514
Wolf-Hirschhorn Syndrome
Cleft palate, Short philtrum, Optic atrophy, Delayed skeletal maturation, Abnormal lip morphology... ORPHA:280
Anophthalmia Plus Syndrome
Vertebral segmentation defect, Cleft palate, Abnormal nasal morphology, Anophthalmia, Low-set, po... ORPHA:1104
Larsen-Like Syndrome
Dental malocclusion, Wide anterior fontanel, Macrocephaly, Cleft palate, Malar flattening, Fronta... OMIM:608545
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Malar flattening, Microcephaly, Narrow nasal bridge, Flat occiput, Abnormal zygomatic bone morpho... ORPHA:2511
Cerebrooculonasal Syndrome
High palate, Hydrocephalus, Cleft palate, Craniosynostosis, Short nose, Solitary median maxillary... OMIM:605627
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Abnormal cerebral white matter morphology, Hyperplasia of the maxilla, Thin upper lip vermilion OMIM:618587
Diastrophic Dysplasia
Abnormal clavicle morphology, Depressed nasal bridge, Micromelia, Symphalangism affecting the pha... ORPHA:628
Recombinant Chromosome 8 Syndrome
Gingival overgrowth, Cerebral atrophy, Malar flattening, Depressed nasal bridge, Micrognathia, Ab... OMIM:179613
Treacher Collins Syndrome 4
Cleft palate, Malar flattening, Micrognathia, Microcephaly, Respiratory failure requiring assiste... OMIM:618939
Wieacker-Wolff Syndrome
High palate, Apnea, Short neck, U-Shaped upper lip vermilion, Talipes equinovarus, Congenital foo... OMIM:314580
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Cleft palate, Micrognathia, Short nose, Anteverted nares, Thin upper lip vermilion ORPHA:2015
Bilateral Polymicrogyria
Facial diplegia, Wide mouth, Sensorineural hearing impairment, Perisylvian polymicrogyria, Talipe... ORPHA:268940
Wolf-Hirschhorn Syndrome
Hydrocephalus, Abnormal pinna morphology, Cleft palate, Craniofacial asymmetry, Malrotation of sm... OMIM:194190
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
High palate, Dental crowding, Overjet, Sensorineural hearing impairment, Persistence of primary t... OMIM:618342
German Syndrome
High palate, Everted lower lip vermilion, Dolichocephaly, Depressed nasal bridge, Micrognathia, O... ORPHA:2077
Robinow Syndrome
Triangular mouth, Broad alveolar ridges, Broad nasal tip, Depressed nasal bridge, Hemivertebrae, ... ORPHA:97360
Ck Syndrome
High palate, Kyphosis, Malar flattening, Retrognathia, Micrognathia, Scoliosis, Polymicrogyria, H... OMIM:300831
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Retrognathia, Depressed nasal bridge, Micrognathia, Microcephaly, Hypoplasia of the ... OMIM:618142
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Episodic tachypnea, Retrognathia, Micrognathia, Apneic episodes in infancy, Fronta... ORPHA:163961
Acrofacial Dysostosis 1, Nager Type
Wide mouth, Hydrocephalus, Cleft palate, Absent thumb, Hypoplasia of the radius, Polymicrogyria, ... OMIM:154400
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Miscarriage, Pectus excavatum, Prominent sternum, Absent glenoid fo... ORPHA:96334
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Depressed nasal ridge, Micr... OMIM:253290
Sandestig-Stefanova Syndrome
High palate, Intrauterine growth retardation, Angulated antihelix, Trigonocephaly, Convex nasal r... OMIM:618804
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Microretrognathia, Flexion contracture, Small hand, Scoliosis, Optic atrophy, Ante... OMIM:300884
Rubinstein-Taybi Syndrome 2
High palate, Dental malocclusion, Posterior helix pit, Narrow palate, Convex nasal ridge, Intesti... OMIM:613684
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Alveolar ridge overgrowth, Sensorineural hearing impairment, Hydrocephalus, Drumstick terminal ph... OMIM:612938
Baraitser-Winter Syndrome 2
Wide mouth, Abnormal pinna morphology, Webbed neck, Pachygyria, Retrognathia, Short stature, Shor... OMIM:614583
Axial Spondylometaphyseal Dysplasia
Mild postnatal growth retardation, Osteopenia, Platyspondyly, Upper limb undergrowth, Disproporti... ORPHA:168549
Multiple Synostoses Syndrome 1
Pectus excavatum, Hypoplastic nasal septum, Short sternum, Clinodactyly of the 4th toe, Short phi... OMIM:186500
Shprintzen-Goldberg Syndrome
Apnea, Gastroesophageal reflux, High, narrow palate, Craniosynostosis, Retrognathia, Micrognathia... ORPHA:2462
Pierpont Syndrome
Long upper lip, Malar flattening, Everted lower lip vermilion, Thin vermilion border, Abnormal co... ORPHA:487825
Acrodysostosis 1 With Or Without Hormone Resistance
Dental malocclusion, Hydrocephalus, Hypodontia, Calvarial hyperostosis, Broad nasal tip, Depresse... OMIM:101800
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sleep apnea, Hydrocephalus, Relative macrocephaly, Cleft palate, Depressed nasal bridge, Microgna... ORPHA:459061
Chromosome 2P16.1-P15 Deletion Syndrome
High palate, Pectus excavatum, Depressed nasal bridge, Hypogonadism, Calcaneovalgus deformity, Pa... OMIM:612513
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Wide anterior fontanel, Cleft palate, Anterior plagiocephaly, Depressed nasal bridge... ORPHA:163649
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Micromelia, Upper limb undergrowth, Pectus carinatum, Hypoplastic pelvis, Genu val... ORPHA:93351
Microcephaly-Deafness Syndrome
Everted lower lip vermilion, Micrognathia, Cupped ear, Hearing impairment, Low-set ears OMIM:156620
Otopalatodigital Syndrome Type 2
Hydrocephalus, Abnormal pinna morphology, Cleft palate, Depressed nasal bridge, Short nose, Bowin... ORPHA:90652
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Hydrocephalus, Metaphyseal... OMIM:300863
Meier-Gorlin Syndrome 5
Gastroesophageal reflux, Feeding difficulties, Micrognathia, Microcephaly, Long philtrum, Hypopla... OMIM:613805
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 3rd toe, Radiculomegaly, Broad nasal tip... OMIM:300166
Eng-Strom Syndrome
Pectus excavatum, Short stature, Camptodactyly of finger, Brachydactyly, Scoliosis, Arthritis, In... ORPHA:1937
Charge Syndrome
Webbed neck, Aplasia of the semicircular canal, Cleft palate, Tracheoesophageal fistula, Hemivert... OMIM:214800
Fetal Trimethadione Syndrome
High palate, Depressed nasal bridge, Micrognathia, Microcephaly, Short nose, Brachycephaly, Midfa... ORPHA:1913
Pontocerebellar Hypoplasia Type 10
Proptosis, Long palpebral fissure, Long eyelashes, Highly arched eyebrow ORPHA:411493
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
High palate, Short neck, Tapered finger, Limb joint contracture, Intrauterine growth retardation,... ORPHA:505237
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Cleft palate, Depressed nasal bridge, Short neck, 11 pairs of rib... OMIM:108720
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Bulbous nose, Persistence of primary teeth, Prominent frontal sinuses, Malar flatten... OMIM:170390
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Upper limb ... ORPHA:93315
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Cleft palate, Malar flattening, Craniosynostosis, Micrognathia, Short nose, B... ORPHA:2145
Coffin-Siris Syndrome 6
Conductive hearing impairment, Kyphoscoliosis, Pectus excavatum, Plagiocephaly, High, narrow pala... OMIM:617808
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Tooth agenesis, Abnormality of the dentition, Xerostomia, Cough, Frontal bossing, Hypo... ORPHA:238468
Marcus-Gunn Syndrome
Cleft palate, Abnormality of the sense of smell, Coloboma, Cleft lip, Abnormal fifth cranial nerv... ORPHA:91412
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Clinodactyly of the 5th finger, Short stature, Camptodactyly of fi... ORPHA:1836
Shashi-Pena Syndrome
Kyphosis, Accelerated skeletal maturation, Retrognathia, Broad nasal tip, Deep palmar crease, Sco... OMIM:617190
Temple Syndrome
High palate, Hydrocephalus, Cleft palate, Depressed nasal bridge, Short philtrum, Intrauterine gr... OMIM:616222
Spinocerebellar Ataxia, Autosomal Recessive 31
High palate, Gingival overgrowth, Clinodactyly of the 5th finger, Pectus excavatum, Bilateral sen... OMIM:619422
Cohen Syndrome
Gingival overgrowth, Tooth agenesis, Aplasia/Hypoplasia of the tongue, High, narrow palate, Micro... ORPHA:193
Developmental And Speech Delay Due To Sox5 Deficiency
2-3 toe syndactyly, Lumbar hyperlordosis, Butterfly vertebrae, Hyperplasia of the maxilla, Scolio... ORPHA:313892
Xq28 (MECP2) duplication
Narrow mouth, Constipation, Gastroesophageal reflux, Malar flattening, Depressed nasal bridge, De... DECIPHER:45
Crisponi/Cold-Induced Sweating Syndrome 1
High palate, Depressed nasal bridge, Short neck, Tapered finger, Carious teeth, Trismus, Talipes ... OMIM:272430
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... ORPHA:174
Gómez-López-Hernández Syndrome
Hydrocephalus, Thin vermilion border, Cerebellar vermis hypoplasia, Anteverted nares, Brachycepha... ORPHA:1532
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Abnormal rib cage morphology, Short stature, Hemivertebrae, Posterior rib fusio... OMIM:608406
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Delayed skeletal maturation, Wide mouth, Protruding ear, Everted lower lip vermilion, Retrognathi... OMIM:619595
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Dental malocclusion, Respiratory distress, Micrognathia, Nasogastric tube feeding, C... ORPHA:329178
Branchiootic Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Cleft palate, Lip pit, Micrognat... ORPHA:52429
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Anal atresia, Clinodactyly of the 5th finger, Microphthalmia, Microtia, first degree, Micrognathi... OMIM:600123
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... ORPHA:2791
Perlman Syndrome
Low-set ears, Hyperinsulinemia, Abnormal pancreas morphology, High, narrow palate, Broad alveolar... ORPHA:2849
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Anal atresia, Intrauterine growth retardation, Clinodactyly of the 5th finger, Microphthalmia, Mi... ORPHA:1352
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Joint contracture of the hand, Everted lower lip vermilion, Retrognathia, Camptodactyly... OMIM:300280
Chromosome 1P36 Deletion Syndrome, Distal
High palate, Hydrocephalus, Depressed nasal ridge, Depressed nasal bridge, 11 pairs of ribs, Opti... OMIM:607872
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
High palate, Hip contracture, Protruding ear, Internally rotated shoulders, Talipes equinovarus, ... OMIM:617468
Spondylocarpotarsal Synostosis Syndrome
Broad nasal tip, Short neck, Pectus carinatum, Disproportionate short-trunk short stature, Short ... OMIM:272460
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Narrow mouth, Narrow palate, Tooth agenesis, Hydrocephalus, Malar flattenin... ORPHA:1555
Grant Syndrome
Open bite, Depressed nasal bridge, Micrognathia, Frontal bossing, Abnormal palate morphology, Bra... ORPHA:2097
Subaortic Stenosis--Short Stature Syndrome
Narrow mouth, Malar flattening, Diastema, Short nose, Hypoplasia of the maxilla, Anteverted nares... OMIM:271960
Branchiooculofacial Syndrome
Malrotation of colon, Cleft palate, Overfolded helix, Broad nasal tip, Depressed nasal bridge, Ab... OMIM:113620
Zttk Syndrome
High palate, Craniosynostosis, Depressed nasal bridge, Abnormality of the dentition, Short philtr... OMIM:617140
Ear-Patella-Short Stature Syndrome
Respiratory distress, Narrow mouth, High, narrow palate, Cleft palate, Craniosynostosis, Retrogna... ORPHA:2554
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal antihelix morphology, Cleft palate, Hemivertebrae, Macrodontia, Mandibular prognathia, P... ORPHA:2916
Branchioskeletogenital Syndrome
Craniosynostosis, Broad nasal tip, Depressed nasal bridge, Abnormality of the dentition, Short ph... ORPHA:1299
Greenberg Dysplasia
Anterior rib punctate calcifications, Depressed nasal ridge, Horizontal sacrum, Depressed nasal b... OMIM:215140
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, High, narrow palate, Depressed nasal bridge, Micrognathia, Optic atrophy, F... OMIM:608799
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Pectus excavatum, Short stature, Broad nasal tip, Clinodactyly, Growth delay, Short palm, Delayed... ORPHA:73273
Yunis-Varon Syndrome
High palate, Absent nipple, Absent thumb, Short philtrum, Congenital hip dislocation, Cutaneous s... OMIM:216340
Bartsocas-Papas Syndrome 1
Short metacarpal, Cleft palate, Absent thumb, Short neck, Short nose, Hypoplasia of the maxilla, ... OMIM:263650
Aarskog-Scott Syndrome
Cleft upper lip, Hypodontia, Cleft palate, Curved linear dimple below the lower lip, Short nose, ... OMIM:305400
Auriculocondylar Syndrome
Respiratory distress, Dental malocclusion, Narrow mouth, Abnormality of the crus of the helix, Ma... ORPHA:137888
Weaver Syndrome
Joint stiffness, Talipes equinovarus, Accelerated skeletal maturation, Retrognathia, Micrognathia... ORPHA:3447
Gomez-Lopez-Hernandez Syndrome
High palate, Wide anterior fontanel, Malar flattening, Craniosynostosis, Thin vermilion border, A... OMIM:601853
Clark-Baraitser Syndrome
High palate, Wide mouth, Low hanging columella, Dolichocephaly, Depressed nasal bridge, Short phi... OMIM:617752
Monosomy 18P
Tooth malposition, Cleft palate, Hypodontia, Holoprosencephaly, Micrognathia, Short philtrum, Mic... ORPHA:1598
Microcephaly 5, Primary, Autosomal Recessive
Proptosis, Highly arched eyebrow OMIM:608716
Gillessen-Kaesbach-Nishimura Syndrome
Wide anterior fontanel, Convex nasal ridge, Retrognathia, Micrognathia, Microcephaly, Brachycepha... OMIM:263210
Basal Cell Nevus Syndrome
Hydrocephalus, Cleft palate, Hemivertebrae, Down-sloping shoulders, Microphthalmia, Mandibular pr... OMIM:109400
Craniosynostosis And Dental Anomalies
High palate, Depressed nasal bridge, Delayed eruption of teeth, Broad hallux, Sagittal craniosyno... OMIM:614188
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Short stature, Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short middle phalanx... OMIM:309620
Pseudodiastrophic Dysplasia
Malar flattening, Micrognathia, Frontal bossing, Anteverted nares, Brachycephaly, Midface retrusi... OMIM:264180
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Convex nasal ridge, Short stature, Abno... ORPHA:2522
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Clinodactyly of the 5th finger, Short stature, Reduced bone mine... ORPHA:2370
Pontocerebellar Hypoplasia, Type 3
High palate, High, narrow palate, Cerebral atrophy, Depressed nasal bridge, Long philtrum, Hypopl... OMIM:608027
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Plagiocephaly, Feeding difficulties, Micrognathia, Scaphocephaly, Respirato... ORPHA:1143
Spondylometaphyseal Dysplasia, Axial
Narrow chest, Coxa vara, Narrow greater sciatic notch, Reduced sperm motility, Short stature, Pla... OMIM:602271
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Proptosis, Hypertelorism OMIM:612247
Intellectual Disability, Wolff Type
Short distal phalanx of finger, Bulbous nose, Clinodactyly of the 5th finger, Microretrognathia, ... ORPHA:3080
Weiss-Kruszka Syndrome
Horizontal crus of helix, Low-set ears, Protruding ear, Clinodactyly of the 5th finger, Microtia,... OMIM:618619
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
High palate, Hydrocele testis, Cleft palate, Overfolded helix, Depressed nasal bridge, Short nose... OMIM:614080
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Plagiocephaly, Macrocephaly, Gastroesophageal reflux, Low hanging columella, Dolichocephaly, Micr... OMIM:619721
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Talipes equinovarus, Short thorax, Vertebral fusion, Short long bo... OMIM:618845
Kbg Syndrome
Cutaneous syndactyly, Short neck, Macrodontia, Single transverse palmar crease, Tented upper lip ... OMIM:148050
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Abdominal distention, Intestinal malrotation, Increased size of the mandible, Vomiting, Pyloric s... OMIM:300048
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Respiratory distress, Gastroesophageal reflux, Cleft palate, Respiratory insufficien... OMIM:614399
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Lateral clavicle hook, Mesomelic arm ... OMIM:171480
Hypoglossia With Situs Inversus
High palate, Respiratory distress, Narrow mouth, Hypodontia, Micrognathia, Feeding difficulties i... OMIM:612776
Myhre Syndrome
Cleft palate, Short philtrum, Short neck, Cone-shaped epiphysis, Birth length less than 3rd perce... OMIM:139210
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short stature, Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger... ORPHA:1436
Bohring-Opitz Syndrome
Depressed nasal bridge, Tapered finger, Intrauterine growth retardation, Sacral dimple, Cleft upp... OMIM:605039
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Trigonocephaly, Malar flattening, Cleft palate, Micrognathia, Microcephaly,... OMIM:610536
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Cerebral dysmyelination, Feeding difficulties, Respiratory insufficiency, Central apnea, Death in... OMIM:611722
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Cleft palate, Retrognathia, Micrognathia, Microcephaly, Bifid uvula, Mandibular prognathia, Submu... ORPHA:2521
Pitt-Hopkins Syndrome
Wide mouth, Prominent fingertip pads, Short fourth metatarsal, Short philtrum, Short neck, Tapere... OMIM:610954
Auriculocondylar Syndrome 2
Dental malocclusion, Apnea, Narrow mouth, Macrocephaly, Cleft palate, Short mandibular rami, Glos... OMIM:614669
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Clinodactyly of the 5th finger, Convex nasal ridge, Short stature, Hypopl... OMIM:617604
Peho-Like Syndrome
Retrognathia, Polymicrogyria, Optic atrophy, Short nose, Lissencephaly, Open mouth, Pachygyria OMIM:617507
Asymmetric Short Stature Syndrome
Convex nasal ridge, Micrognathia, Lumbar scoliosis, Fused cervical vertebrae, Asymmetric short st... OMIM:108450
Branchiogenic-Deafness Syndrome
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Short distal phalanx of... OMIM:609166
Acromelic Frontonasal Dysostosis
Cleft upper lip, Brachycephaly, U-Shaped upper lip vermilion, Gray matter heterotopia, Cleft pala... OMIM:603671
Cockayne Syndrome Type 2
Anodontia, Widely spaced primary teeth, Intrauterine growth retardation, Hypoplasia of the primar... ORPHA:90322
Achondrogenesis Type 1B
Narrow chest, Severe short stature, Talipes equinovarus, Micrognathia, Short neck, Micromelia, Ab... ORPHA:93298
Lateral Meningocele Syndrome
High palate, Pectus excavatum, Short neck, Umbilical hernia, High, narrow palate, Dolichocephaly,... ORPHA:2789
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Brachydac... OMIM:244600
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Cleft palate, Overfolded helix, Broad nasal tip, Depressed nasal tip, Depressed nasal bridge, Sho... OMIM:618223
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Depressed nasal bridge, Monkey wrench f... OMIM:251450
Orofaciodigital Syndrome Xvii
High, narrow palate, Short stature, Retrognathia, Partial duplication of thumb phalanx, Prominent... OMIM:617926
Fryns Microphthalmia Syndrome
Abnormality of the ear, Microphthalmia, Abnormality of the vertebral column, Anophthalmia, Neural... OMIM:600776
Auriculocondylar Syndrome 3
Glossoptosis, Micrognathia, Retrognathia, Stenosis of the external auditory canal, Bilateral cond... OMIM:615706
Craniosynostosis 2
Supernumerary tooth, Craniosynostosis, Brachyturricephaly, Frontal bossing, Bicoronal synostosis,... OMIM:604757
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Abnormal dental enamel morphology, Hydrocephalus, Bulbous nose, Hemivertebrae, ... ORPHA:2180
15Q Overgrowth Syndrome
High palate, Hydrocephalus, Craniosynostosis, Abnormality of the outer ear, Mandibular prognathia... ORPHA:314585
Focal Dermal Hypoplasia
Hydrocephalus, Hiatus hernia, Cleft palate, Broad nasal tip, Cleft ala nasi, Congenital hip dislo... OMIM:305600
Renpenning Syndrome 1
High palate, Bulbous nose, Pectus excavatum, Cleft palate, Short philtrum, Macrodontia, Microphth... OMIM:309500
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Abnormality of the ear, Recurrent otitis media, Prominent fingertip pads, Flexion contracture, Re... ORPHA:391372
Hallermann-Streiff Syndrome
High palate, Pectus excavatum, Thin calvarium, Optic disc coloboma, Decreased number of sternal o... OMIM:234100
Andersen-Tawil Syndrome
High palate, Dental crowding, Bulbous nose, Persistence of primary teeth, Micrognathia, Abnormali... ORPHA:37553
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia, Joint stiffness, Cupped ear, Short stature OMIM:261560
Gaucher Disease, Type Ii
Apnea, Cerebral atrophy, Feeding difficulties, Recurrent aspiration pneumonia, Dysphagia, Trismus... OMIM:230900
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short stature, Trident acetabulum, Short ribs, Brachydactyly, Pos... OMIM:617405
Glossopharyngeal Neuralgia
Mandibular pain, Cranial nerve compression, Tongue pain, Abnormality of the cervical spine, Abnor... ORPHA:221098
Desmosterolosis
Hydrocephalus, Macrocephaly, Cleft palate, Depressed nasal bridge, Polymicrogyria, Short nose, Ab... ORPHA:35107
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Talipes equinovarus, Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused ... OMIM:618469
Elsahy-Waters Syndrome
High palate, Bulbous nose, Impacted tooth, Delayed eruption of teeth, Hypoplasia of the maxilla, ... OMIM:211380
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Proptosis OMIM:601420
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cleft palate, Feeding difficulties, Intestinal malrotation, Depressed nasal bridge, Micrognathia,... ORPHA:404440
Cowden Syndrome 5
High palate, Narrow mouth, Micrognathia, Furrowed tongue, Hypoplasia of the maxilla, Colonic dive... OMIM:615108
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Taurodontia, Constipation, Hypodontia, Everted lower lip vermilion, Depress... OMIM:305100
Meier-Gorlin Syndrome 3
Narrow mouth, Microretrognathia, Gastroesophageal reflux, Feeding difficulties, Tracheomalacia, M... OMIM:613803
Weill-Marchesani Syndrome 1
Narrow palate, Tooth malposition, Depressed nasal bridge, Broad skull, Hypoplasia of the maxilla,... OMIM:277600
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal spaced incisors, Large earlobe, Bulbous nose, Prominent ear helix, Everted lower lip ver... ORPHA:411986
Mosaic Trisomy 14
High palate, Wide mouth, Ectopic anus, Narrow chest, Aplasia/Hypoplasia affecting the eye, Cleft ... ORPHA:1703
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Retrognathia, Depressed nasal bridge, Dolichocephaly, Microcephaly, Hypoplasia of the corp... OMIM:617301
Van Den Ende-Gupta Syndrome
High palate, Dental crowding, Narrow mouth, Convex nasal ridge, High, narrow palate, Malar flatte... OMIM:600920
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Accelerated skeletal maturation, Cleft palate, Carious teeth, Genu valgum, Small epi... OMIM:618363
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Narrow mouth, Aplasia/Hypoplasia involving the nose, Holoprosencephaly, Apl... ORPHA:990
Koolen-De Vries Syndrome
Bulbous nose, Pectus excavatum, Cleft palate, Overfolded helix, Abnormality of the dentition, Mic... ORPHA:96169
Ichthyosis, Congenital, Autosomal Recessive 4B
Proptosis, Ectropion OMIM:242500
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
High palate, Bulbous nose, Pectus excavatum, Overfolded helix, Depressed nasal bridge, Short phil... OMIM:617061
49,Xxxxy Syndrome
Asthma, Taurodontia, Constipation, Gastroesophageal reflux, Depressed nasal ridge, Cleft palate, ... ORPHA:96264
Cleidocranial Dysplasia
Sleep apnea, Sinusitis, Macrocephaly, Supernumerary tooth, High, narrow palate, Cleft palate, Ope... ORPHA:1452
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Wide anterior fontanel, Cleft palate, Tracheomalacia, Depressed nasal bridg... OMIM:217980
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
High palate, Short nose, Hip subluxation, Cervical C2/C3 vertebral fusion, Tracheomalacia, Microg... ORPHA:444077
Neurodevelopmental Disorder With Seizures And Brain Atrophy
High palate, Decreased thalamic volume, Retrognathia, Long philtrum, Arthrogryposis multiplex con... OMIM:619072
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Clinodactyly of the 5th finger, Malar flattening, Retrognathia, Down-sloping shoulders, Brachydac... ORPHA:1390
Monosomy 5P
High palate, Recurrent fractures, Microretrognathia, Finger syndactyly, Short stature, Small hand... ORPHA:281
Richieri-Costa/Guion-Almeida Syndrome
Cleft upper lip, Cleft palate, Malar flattening, Microcephaly, Spina bifida occulta, Mandibular p... OMIM:268850
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Wide mouth, Cerebral cortical atrophy, Retrognathia, Short philtrum, Microcephaly, Death in infan... ORPHA:1194
Walker-Warburg Syndrome
Low-set ears, Hydrocephalus, Protruding ear, Cleft palate, Pachygyria, Anophthalmia, Bifid uvula,... ORPHA:899
Tetrasomy 5P
High palate, Respiratory distress, Wide anterior fontanel, Hydrocephalus, Macrocephaly, Micrognat... ORPHA:3309
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Narrow mouth, Plagiocephaly, Cyst of the ductus choledochus, Dolichocephaly, Broad n... OMIM:619480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Pachygyria, Scoliosis, Hyperlordosis, Shoulder girdle muscle weakness, Facial palsy, Ve... OMIM:606612
2P15P16.1 Microdeletion Syndrome
High palate, Pectus excavatum, Tapered finger, Optic atrophy, Sandal gap, Hypogonadism, Intrauter... ORPHA:261349
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
High palate, Wide mouth, Bulbous nose, Plagiocephaly, Macroglossia, Depressed nasal bridge, Downt... ORPHA:369891
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:228940
Warburg Micro Syndrome 3
Narrow palate, Cerebral cortical atrophy, Micrognathia, Microcephaly, Polymicrogyria, Hypoplasia ... OMIM:614222
Smith-Magenis Syndrome
Constipation, Cleft palate, Depressed nasal bridge, Short philtrum, Short nose, Tented upper lip ... ORPHA:819
Oculoauriculofrontonasal Syndrome
Narrow mouth, Macrocephaly, Cleft palate, Encephalocele, Micrognathia, Microcephaly, Bifid nasal ... ORPHA:398156
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Distal ulnar epiphyseal stippl... OMIM:609616
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Cleft palate, Everted lower lip vermilion, Micrognathia, Oral synechia ORPHA:2016
Spondylometaphyseal Dysplasia, X-Linked
Enlarged joints, Kyphosis, Sclerosis of skull base, Hip contracture, Severe short stature, Hypere... OMIM:313420
Cebalid Syndrome
High palate, Plagiocephaly, Depressed nasal ridge, Platystencephaly, Dolichocephaly, Depressed na... OMIM:618774
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies... ORPHA:2064
Distal 17P13.1 Microdeletion Syndrome
High palate, Retrognathia, Microcephaly, Hypoplasia of the zygomatic bone, Unilateral polymicrogy... ORPHA:319171
Schaaf-Yang Syndrome
Tapered finger, Narrow palm, Open mouth, Rocker bottom foot, Hypogonadism, Mandibular prognathia,... OMIM:615547
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Dworschak-Punetha Neurodevelopmental Syndrome
Large earlobe, Depressed nasal bridge, Cupped ear, Short neck, Peripheral axonal neuropathy, Micr... OMIM:619955
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Thick upper lip vermilion, Cleft palate, Abnormality of the dentition, Short philtrum, Mandibular... OMIM:226440
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pectus excavatum, Mild postnatal growth retardation, Depressed nasal bridge, Delayed eruption of ... OMIM:235510
Sifrim-Hitz-Weiss Syndrome
Low-set ears, Short clavicles, Short stature, Hypogonadotropic hypogonadism, Cupped ear, Bifid uv... OMIM:617159
Cerebrofaciothoracic Dysplasia
Cleft upper lip, Wide mouth, Rib fusion, Sprengel anomaly, Narrow chest, Bifid ribs, Cleft palate... ORPHA:1394
Warsaw Breakage Syndrome
High palate, Wide mouth, 2-3 toe syndactyly, Cupped ear, Optic disc coloboma, Single transverse p... OMIM:613398
Cutis Laxa, Autosomal Recessive, Type Ib
High palate, Bulbous nose, Convex nasal ridge, Prominence of the premaxilla, Depressed nasal brid... OMIM:614437
Pelvis-Shoulder Dysplasia
Hydrocephalus, Abnormal pinna morphology, Cleft palate, Absent proximal finger flexion creases, T... ORPHA:2839
Frontometaphyseal Dysplasia 1
Craniosynostosis, Increased density of long bone diaphyses, Delayed eruption of teeth, Genu valgu... OMIM:305620
Insulin-Like Growth Factor I, Resistance To
High palate, Pectus excavatum, Sandal gap, Delayed skeletal maturation, Intrauterine growth retar... OMIM:270450
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Prominent sternum, Broad nasal tip, Depressed nasal bridge, Short neck, Platyspondyly, Optic disc... OMIM:300232
Cowden Syndrome 6
High palate, Narrow mouth, Micrognathia, Furrowed tongue, Hypoplasia of the maxilla, Colonic dive... OMIM:615109
Lowry-Maclean Syndrome
Convex nasal ridge, Cleft palate, Craniosynostosis, Microcephaly, Delayed eruption of teeth OMIM:600252
Juberg-Hayward Syndrome
Abnormality of finger, Severe short stature, Hypoplasia of the radius, Scoliosis, Radioulnar syno... ORPHA:2319
Basilicata-Akhtar Syndrome
Abnormal pinna morphology, Precocious puberty, Adducted thumb, Retrognathia, Dolichocephaly, Shor... OMIM:301032
Muenke Syndrome
High palate, Dental malocclusion, Plagiocephaly, Macrocephaly, Malar flattening, Coronal craniosy... OMIM:602849
Familial Visceral Myopathy
Abdominal distention, Cleft palate, Micrognathia, Microcephaly, Umbilical hernia, Anteverted nare... ORPHA:2604
6Q16 Microdeletion Syndrome
Bulbous nose, Microtia, Retrognathia, Depressed nasal bridge, Micrognathia, Tapered finger, Abnor... ORPHA:171829
Oculocerebrodental Syndrome
Abnormality of the dentition, Depressed nasal bridge, Microdontia, Hypoplasia of the capital femo... ORPHA:557003
Wieacker-Wolff Syndrome, Female-Restricted
U-Shaped upper lip vermilion, Microretrognathia, Cleft palate, Feeding difficulties, Microcephaly... OMIM:301041
Split Lower Lip
Abnormality of the dentition, Narrow maxilla, Lower lip pit, Abnormality of lower lip OMIM:183400
Fibrochondrogenesis 2
Malar flattening, Micrognathia, Protuberant abdomen, Short nose, Anteverted nares, Midface retrusion OMIM:614524
Ritscher-Schinzel Syndrome 1
Anal atresia, Hydrocephalus, Cleft palate, Depressed nasal bridge, Micrognathia, Prominent occipu... OMIM:220210
Lethal Recessive Chondrodysplasia
Respiratory distress, Micrognathia, Macroglossia ORPHA:1423
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Bulbous nose, Short toe, Cryptorchidism, Short stature, Retrognathia, Broad nasal tip, Postnatal ... OMIM:612947
Robinow Syndrome, Autosomal Dominant 1
High palate, Pectus excavatum, Triangular mouth, Depressed nasal bridge, Short neck, Duplication ... OMIM:180700
Agnathia-Otocephaly Complex
Respiratory distress, Narrow mouth, Cleft palate, Tracheomalacia, Holoprosencephaly, Micrognathia... OMIM:202650
Achondrogenesis, Type Ib
Abdominal distention, Malar flattening, Respiratory insufficiency, Umbilical hernia, Stillbirth OMIM:600972
Silver-Russell Syndrome 3
Cryptorchidism, Short stature, Retrognathia, Finger clinodactyly, Syndactyly, Patent ductus arter... OMIM:616489
Congenital Muscular Dystrophy, Ullrich Type
Abnormal palate morphology, Micrognathia, Respiratory failure ORPHA:75840
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Gray matter heterotopia, Cleft palate, Cleft ala nasi, Congenital hip disl... OMIM:164180
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite OMIM:119540