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
Semilobar holoprosencephaly, Hypoplasia of the premaxilla, Absent nasal septal cartilage, Depress... OMIM:610828
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Pachygyria, Bulbous nose, Midface retrusion, Hypoplasia of the corpus callosum, Smooth philtrum, ... OMIM:618737
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Median cleft lip and palate, Gingival fibromatosis, Short nose, Large fontane... ORPHA:1832
Cleft Velum
Oral-pharyngeal dysphagia, Aspiration pneumonia, Nasal regurgitation, Cleft soft palate, Poor suc... ORPHA:99772
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Craniosynostosis, Basal ganglia calcification, Microcephaly, Prominent nasal bridge, Hypoplasia o... OMIM:608432
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Convex nasal ridge, Aplasia/Hypoplasia of the cerebellum, Frontal bossing, Abnormal palate morpho... ORPHA:93262
Maxillonasal Dysplasia
Open bite, Short nose, Midface retrusion, Mandibular prognathia, Short columella, Abnormality of ... ORPHA:1248
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Frontal bossing, Mandibular prognathia, Macrocephaly, High palate, Prominent nasal bridge, Hypopl... OMIM:300676
Isolated Exencephaly
Aplasia/Hypoplasia of the cerebellum, Abnormality of the calvaria, Abnormality of facial skeleton... ORPHA:563612
Familial Median Cleft Of The Upper And Lower Lips
Fusion of gums, Diastema, Abnormality of the maxilla, Irregular dentition, Cleft lower lip, Cleft... ORPHA:401942
Hypomandibular Faciocranial Dysostosis
Pursed lips, Choanal stenosis, Aglossia, Patent ductus arteriosus, Coronal craniosynostosis, Micr... OMIM:241310
Frontofacionasal Dysplasia
Short nose, Underdeveloped nasal alae, Midface retrusion, Oral cleft, Bifid uvula, Brachycephaly,... OMIM:229400
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Narrow mouth, Anteverted nares, Abnormal palate morphology, Patent ... ORPHA:2412
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Long philtrum, Prominence of the premaxilla, Short nose, Open mouth, Everted ... OMIM:137550
Holoprosencephaly 9
Hypoplasia of the premaxilla, Anterior pituitary hypoplasia, Solitary median maxillary central in... OMIM:610829
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Slender finger, Sh... OMIM:609813
Crouzon Disease
Convex nasal ridge, Narrow palate, Frontal bossing, Midface retrusion, Choanal atresia, Cerebella... ORPHA:207
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Rib fusion, Severe short stature, Hemivertebrae, Vertebral fusion, Disproportionate sh... OMIM:277300
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, M... OMIM:613686
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Underdeveloped nasal alae, Aplasia/Hypoplasia of the frontal sinuses, Lipoma of corpus callosum, ... ORPHA:306542
Hartsfield Syndrome
Craniosynostosis, Cleft upper lip, Cleft palate, Lobar holoprosencephaly, Microcephaly, Hypoplasi... OMIM:615465
Autosomal Recessive Distal Osteolysis Syndrome
Midface retrusion, Abnormality of the dentition, Broad nasal tip, Hypoplasia of the maxilla ORPHA:2776
Fg Syndrome Type 1
Cryptorchidism, Craniosynostosis, Open mouth, Dental crowding, Abnormal sternum morphology, Choan... ORPHA:93932
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Bulbous nose, Trigonocephaly, Brachycephaly, Bifid nasal tip, Bifid nose, Micrognathia, Prominent... OMIM:275595
Skraban-Deardorff Syndrome
Hyperplasia of the maxilla, Feeding difficulties, Hypoplasia of the corpus callosum, Constipation... OMIM:617616
Intellectual Developmental Disorder, Autosomal Recessive 69
Microcephaly, Hyperplasia of the maxilla, Cerebellar hypoplasia, Drooling OMIM:618383
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Abnormality of the ribs, Short thorax, Posterior rib fusion, Anteverted... ORPHA:1797
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Respiratory tract infection, Restrictive ventilatory defect, Decreased motor nerve conduction vel... OMIM:218000
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Anal atresia, Brachycephaly, Microcephaly, Hypoplasia of the maxilla ORPHA:93950
Craniofacial-Deafness-Hand Syndrome
Malar flattening, Short nose, Hypoplasia of the maxilla OMIM:122880
Lujan-Fryns Syndrome
Short philtrum, Aplasia/Hypoplasia of the corpus callosum, Dental crowding, Abnormality of the de... ORPHA:776
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Convex nasal ridge, Short philtrum, Thin vermilion border, Premature loss of teeth, Hypoplasia of... OMIM:156510
Marshall-Smith Syndrome
Prominence of the premaxilla, Choanal stenosis, Choanal atresia, Patent ductus arteriosus, Pulmon... OMIM:602535
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Feeding difficulties, Midface retrusion, Hypoplasia of the corpus callosum, Cerebellar hypoplasia... OMIM:618291
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Narrow mouth, Aplasia/Hypoplasia of the corpus callosum, Holoprosen... ORPHA:2166
Leukodystrophy, Hypomyelinating, 17
Respiratory distress, Feeding difficulties, Hypoplasia of the corpus callosum, Mandibular prognat... OMIM:618006
20P12.3 Microdeletion Syndrome
Long philtrum, Narrow mouth, Hypoplasia of the maxilla, Wide nasal bridge, Macrocephaly, Malar fl... ORPHA:261295
Non-Distal Trisomy 10Q
Convex nasal ridge, Short nose, Frontal bossing, Everted lower lip vermilion, Brachycephaly, High... ORPHA:1695
Frontonasal Dysplasia 1
Agenesis of corpus callosum, Hypoplastic frontal sinuses, Short columella, Lipoma of corpus callo... OMIM:136760
Cleft Lip/Palate
Poor suck, Agenesis of lateral incisor, Abnormal number of permanent teeth, Malnutrition, Feeding... ORPHA:199306
Osteolysis Syndrome, Recessive
Broad nasal tip, Hypoplasia of the maxilla OMIM:259610
Isolated Arrhinia
Absent nasal septal cartilage, Aplasia/Hypoplasia of the nasal septum, Hypoplasia of the nasal bo... ORPHA:1134
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
Macrocephaly, High palate, Prominent nasal bridge, Microcephaly, Hypoplasia of the maxilla ORPHA:85279
Pierre Robin Syndrome
Pierre-Robin sequence, Neonatal respiratory distress, Upper airway obstruction, Glossoptosis, Cle... OMIM:261800
Craniofacial-Deafness-Hand Syndrome
Short nose, Narrow mouth, Hypoplasia of the maxilla, Depressed nasal ridge, Aplasia/Hypoplasia in... ORPHA:1529
Neurofaciodigitorenal Syndrome
Hypoplasia of the premaxilla, Abnormality of the philtrum, Mandibular prognathia, Plagiocephaly, ... ORPHA:2673
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Feeding difficulties, Cerebral atrophy, Respiratory insufficiency due to muscle ... OMIM:611890
Spondylocostal Dysostosis 2, Autosomal Recessive
Recurrent respiratory infections, Rib fusion, Hemivertebrae, Disproportionate short-trunk short s... OMIM:608681
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Lambdoidal craniosynostosis, Sagittal craniosynostos... OMIM:614188
Femoral-Facial Syndrome
Scoliosis, Cryptorchidism, Oral cleft, Aplasia/Hypoplasia of the tibia, Abnormality of the ribs, ... ORPHA:1988
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Hypoplastic sacrum, Cryptorchidism, Bifid distal phalanx of toe, Broad thumb, Dental c... OMIM:268310
Sweeney-Cox Syndrome
Narrow mouth, Underdeveloped nasal alae, Overfolded helix, Choanal atresia, Short clavicles, High... OMIM:617746
Nemaline Myopathy 9
High palate, Micrognathia, Respiratory insufficiency, Cleft palate OMIM:615731
Split-Hand/Foot Malformation 3
Narrow mouth, Microretrognathia, Cleft palate, High palate, Hypoplasia of the maxilla OMIM:246560
Jackson-Weiss Syndrome
Convex nasal ridge, Frontal bossing, Midface retrusion, Mandibular prognathia, Abnormal palate mo... ORPHA:1540
Holoprosencephaly 2
Median cleft lip and palate, Absent nasal septal cartilage, Midface retrusion, Holoprosencephaly,... OMIM:157170
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Thin vermilion border, Wormian bones, Thin calvarium, Hypoplasia of th... OMIM:601812
Apert Syndrome
Narrow palate, Large fontanelles, Mandibular prognathia, Choanal atresia, Respiratory insufficien... ORPHA:87
Trisomy 13
Scoliosis, Cryptorchidism, Abnormality of the antihelix, Narrow chest, Calvarial skull defect, Ir... ORPHA:3378
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Thin vermilion border, Long philtrum, Frontal bossing, Arrhinenceph... ORPHA:1106
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short nose, Feeding difficulties, Trigonocephaly, Cleft palate, Secondary microcephaly, Micrognat... ORPHA:79113
Microcephaly-Microcornea Syndrome, Seemanova Type
Narrow mouth, Brachycephaly, High palate, Retrognathia, Microcephaly ORPHA:2528
Mental Retardation, Autosomal Dominant 1
Bulbous nose, Open mouth, Downturned corners of mouth, Postnatal growth retardation, Sandal gap, ... OMIM:156200
Spondylocostal Dysostosis 5
Scoliosis, Posterior rib fusion, Low back pain, Pectus carinatum, Supernumerary ribs, Severe shor... OMIM:122600
Intellectual Developmental Disorder, Autosomal Dominant 64
Short philtrum, Bulbous nose, Growth delay, High palate, Smooth philtrum, Single transverse palma... OMIM:619188
Lowry-Maclean Syndrome
Craniosynostosis, Downturned corners of mouth, Choanal atresia, Small anterior fontanelle, Trigon... ORPHA:2409
Aarskog-Scott Syndrome
Cryptorchidism, Oral cleft, Short neck, Hypoplasia of the maxilla, Long philtrum, Genu recurvatum... ORPHA:915
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft palate, Micrognathia, Broad nasal tip ORPHA:166016
Congenital Disorder Of Glycosylation, Type Iu
Short nose, Feeding difficulties, Cerebral white matter atrophy, Respiratory distress, Death in i... OMIM:615042
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Thickened calvaria, Broad jaw, Facial palsy, Brachycephaly, Macrocephaly, Optic... ORPHA:178377
Isolated Pierre Robin Syndrome
Neonatal respiratory distress, Upper airway obstruction, Glossoptosis, Cleft palate, Micrognathia... ORPHA:718
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Camptodactyly of finger, Anomalous pulmonary venous return, Abnormality of the ribs, S... ORPHA:2311
Auriculocondylar Syndrome 1
Apnea, Ankylosis, Narrow mouth, Dental crowding, Overfolding of the superior helices, Mandibular ... OMIM:602483
X-Linked Intellectual Disability, Porteous Type
Short philtrum, Mandibular prognathia, Bulbous nose, Hypoplasia of the maxilla ORPHA:93945
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar process hypopla... ORPHA:2972
Stickler Syndrome Type 1
Long philtrum, Cleft palate, Short nose, Hypoplasia of the maxilla ORPHA:90653
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Micrognathia, Mandibular condyle hypoplasia ORPHA:2975
Atelosteogenesis, Type Iii
Frontal bossing, Hypoplasia of the maxilla, Midface retrusion, Prominent occiput, Cleft palate, M... OMIM:108721
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Finger syndactyly, Pectus carinatum, Abnormality of the elbow, ... ORPHA:3268
Dysostosis, Stanescu Type
Convex nasal ridge, Carious teeth, Abnormal dental enamel morphology, Macroglossia, Wormian bones... ORPHA:1798
Branchiootorenal Syndrome 1
Congenital hip dislocation, Branchial cyst, Intestinal malrotation, Stenosis of the external audi... OMIM:113650
Kbg Syndrome
Underdeveloped nasal alae, Anteverted nares, Thoracic kyphosis, Rib fusion, Radial deviation of f... OMIM:148050
Kleeblattschaedel
Hydrocephalus, Proptosis OMIM:148800
Microcephaly-Capillary Malformation Syndrome
Short nose, Hypoplasia of the corpus callosum, Cerebral atrophy, Cleft palate, Optic atrophy, Pro... OMIM:614261
Isolated Klippel-Feil Syndrome
Scoliosis, Spina bifida, Abnormal cranial nerve morphology, Abnormality of the vertebral column, ... ORPHA:2345
Multiple Mitochondrial Dysfunctions Syndrome 3
Feeding difficulties, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morpholog... OMIM:615330
Hamel Cerebro-Palato-Cardiac Syndrome
Bulbous nose, Narrow mouth, Death in infancy, Wide nasal bridge, Cupped ear, Short stature, Cleft... ORPHA:93946
Pfeiffer Syndrome
Short nose, Choanal stenosis, Dental crowding, Mandibular prognathia, Choanal atresia, Cloverleaf... OMIM:101600
Cohen Syndrome
Convex nasal ridge, Short philtrum, Open mouth, Feeding difficulties in infancy, Cerebellar hypop... OMIM:216550
Coffin-Lowry Syndrome
Aplasia/Hypoplasia of the cerebellum, Sleep apnea, Narrow palate, Open mouth, Cerebral cortical a... ORPHA:192
Myopathy, Congenital, Bailey-Bloch
Restrictive ventilatory defect, Downturned corners of mouth, Feeding difficulties, Midface retrus... OMIM:255995
Keipert Syndrome
Hypoplasia of the maxilla, Tented upper lip vermilion, Macrocephaly, Exaggerated cupid's bow, Pro... ORPHA:2662
Achondrogenesis Type 1A
Long philtrum, Short nose, Frontal bossing, Umbilical hernia, Aplasia/Hypoplasia of the lungs, Ma... ORPHA:93299
Metatropic Dysplasia
Scoliosis, Narrow chest, Aplasia/Hypoplasia of the lungs, Joint stiffness, Abnormality of the rib... ORPHA:2635
Pallister-Hall Syndrome
Cryptorchidism, Y-shaped metacarpals, Atresia of the external auditory canal, Natal tooth, Choana... OMIM:146510
Van Maldergem Syndrome 1
Downturned corners of mouth, High palate, Micrognathia, Hypoplasia of the maxilla, Pachygyria, Wi... OMIM:601390
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Macrocephaly, Crowded maxillary incisors, Mandibular prognathia, Hypoplasia of the maxilla ORPHA:397973
Kabuki Syndrome 2
Joint laxity, Natal tooth, Postnatal growth retardation, High palate, Prominent fingertip pads, M... OMIM:300867
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Large iliac wing, Large fontanelles, Increased bone mineral density, Cerebral calcific... ORPHA:2780
Otopalatodigital Syndrome Type 1
Short hallux, Abnormality of the tarsal bones, Synostosis of carpal bones, Elbow dislocation, Hyp... ORPHA:90650
Acrocraniofacial Dysostosis
Craniosynostosis, Broad thumb, Flared iliac wing, Choanal atresia, Short distal phalanx of finger... ORPHA:949
Microphthalmia With Limb Anomalies
Postnatal growth retardation, Sandal gap, Anophthalmia, High palate, Depressed nasal bridge, Post... OMIM:206920
Potocki-Shaffer Syndrome
Short philtrum, Depressed nasal tip, Underdeveloped nasal alae, Downturned corners of mouth, Pari... ORPHA:52022
Nasopalpebral Lipoma-Coloboma Syndrome
Abnormality of cartilage of external ear, Depressed nasal tip, Coloboma, Recurrent upper respirat... ORPHA:2399
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Scoliosis, Pectus excavatum, Iris coloboma, Broad neck, Low-set ears, Cupped ear, Sensorineural h... OMIM:300472
Hyperphosphatasia-Intellectual Disability Syndrome
Scoliosis, Bulbous nose, Downturned corners of mouth, Mandibular prognathia, Abnormal parietal bo... ORPHA:247262
8Q22.1 Microdeletion Syndrome
Long philtrum, Craniosynostosis, Abnormality of the nares, Submucous cleft hard palate, Wide nasa... ORPHA:178303
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Short middle phalanx of finger, Camptodactyly, Aplasia/Hypoplasi... OMIM:113000
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal irregularity, Ovoid vertebral bodies, Irregular patellae, Flat acetabular roof, Narro... OMIM:609052
Myasthenic Syndrome, Congenital, 19
Distal joint laxity, Pectus carinatum, High palate, Respiratory insufficiency, Low-set ears, Spin... OMIM:616720
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short philtrum, Tooth malposition, Midface retrusion, Everted lower lip vermilion, Microcephaly, ... ORPHA:1387
Poland Syndrome
Hypoplasia of deltoid muscle, Sprengel anomaly, Rib fusion, Short ribs, Unilateral brachydactyly,... OMIM:173800
Chondrodysplasia Punctata, Autosomal Dominant
Hypoplasia of the nasal bone, Frontal bossing OMIM:118650
Dextrocardia With Unusual Facies And Microphthalmia
Macrotia, Supernumerary ribs, Vertebral fusion, Cleft palate, Microphthalmia, Anophthalmia, Micro... OMIM:221950
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Narrow mouth, Narrow chest, Downturned corners of mouth, Mandibular prognathia, Attach... ORPHA:1327
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Mandibular prognathia, Microdontia, Widely spaced teeth, Hy... OMIM:601216
Cardioacrofacial Dysplasia 1
Short philtrum, Midface retrusion, Diastema, Conical tooth, Overhanging nasal tip, Accessory oral... OMIM:619142
Chromosome 3Pter-P25 Deletion Syndrome
Long philtrum, Thin vermilion border, Anteverted nares, Downturned corners of mouth, Prominent me... OMIM:613792
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Agenesis of corpus callosum, Abnormal auditory evoked potentials, Brachycephaly, Macrocephaly, Ma... OMIM:109120
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Decreased motor nerve conduction velocity, Short nose, Feeding difficulties, Consti... OMIM:615419
Megalocornea-Mental Retardation Syndrome
Genu valgum, Long philtrum, Frontal bossing, Genu recurvatum, High palate, Wide nasal bridge, Hyp... OMIM:249310
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Dental crowding, Conductive hearing impairment, Everted lower ... OMIM:616367
Ververi-Brady Syndrome
Scoliosis, Bulbous nose, Metaphyseal irregularity, Macrotia, High palate, Everted lower lip vermi... OMIM:617982
Holoprosencephaly
Scoliosis, Cryptorchidism, Abnormality of the antihelix, Branchial anomaly, Spinal dysraphism, Ch... ORPHA:2162
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Long philtrum, Agenesis of corpus callosum, Short nose, Feeding difficulties, Midface retrusion, ... OMIM:618577
Diaphanospondylodysostosis
Short thorax, Short neck, Enlarged thorax, Absent or minimally ossified vertebral bodies, Abnorma... ORPHA:66637
Van Maldergem Syndrome 2
Wide anterior fontanel, Downturned corners of mouth, Gray matter heterotopia, Midface retrusion, ... OMIM:615546
Multicentric Carpotarsal Osteolysis Syndrome
Micrognathia, Hypoplasia of the maxilla OMIM:166300
Nager Syndrome
Abnormal palate morphology, Wide mouth, Non-midline cleft lip, Respiratory insufficiency, Hypopla... ORPHA:245
Kbg Syndrome
Scoliosis, Cryptorchidism, Oligodontia, Underdeveloped nasal alae, Thoracic kyphosis, Persistent ... ORPHA:2332
Crouzon Syndrome
Sleep apnea, Lambdoidal craniosynostosis, Abnormal nasopharynx morphology, Dental crowding, Front... OMIM:123500
Marshall Syndrome
Long philtrum, Short nose, Anteverted nares, Thick lower lip vermilion, Frontal bossing, Hypoplas... ORPHA:560
Intellectual Developmental Disorder, X-Linked 104
Hypoplasia of the corpus callosum, Abnormality of the pinna, Wide nasal bridge, Cerebral cortical... OMIM:300983
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Scoliosis, Optic disc coloboma, Pectus excavatum, Choanal atresia, Abnormality of the pinna, Iris... ORPHA:52055
Distal Xq28 Microduplication Syndrome
Open mouth, Recurrent upper respiratory tract infections, Dental crowding, Patent ductus arterios... ORPHA:293939
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome
Abnormality of the maxilla ORPHA:329252
Genitourinary And/Or Brain Malformation Syndrome
Cryptorchidism, Aplasia of the nasal bone, Acrania, Joint stiffness, Micrognathia, Long philtrum,... OMIM:618820
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Abnormal dental enamel morphology, Thin vermilion border, Long philtru... OMIM:257850
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Long philtrum, Thin vermilion border, Craniosynostosis, Abnormality of the septum pellucidum, Sho... ORPHA:171839
Martsolf Syndrome 1
Short philtrum, Tooth malposition, Hypoplasia of the maxilla, Tracheomalacia, Brachycephaly, Broa... OMIM:212720
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Short philtrum, Open mouth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Deep philtr... OMIM:309520
Autosomal Recessive Multiple Pterygium Syndrome
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Abnormal sternum morphology, Oral ... ORPHA:2990
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Mandi... ORPHA:2790
Otopalatodigital Syndrome, Type Ii
Wormian bones, Delayed closure of the anterior fontanelle, Nonossified fifth metatarsal, Cryptorc... OMIM:304120
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Thickened ribs, Choanal stenosis, Craniofacial hyperostosis, Mandibular progn... OMIM:122860
Distal Tetrasomy 15Q
Scoliosis, Hydrocele testis, Craniosynostosis, Abnormal sternum morphology, Camptodactyly, Flexio... ORPHA:314588
Gorlin-Chaudhry-Moss Syndrome
Oligodontia, Aplasia/Hypoplasia of the nasal bone, Patent ductus arteriosus, Abnormality of the d... ORPHA:2095
2Q32Q33 Microdeletion Syndrome
Convex nasal ridge, Thin vermilion border, Oligodontia, Long philtrum, Narrow mouth, Anteverted n... ORPHA:251019
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Feeding difficulties, Hypoplasia of the corpus callosum, Wide mouth, Microc... OMIM:300934
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Long philtrum, Biparietal narrowing, Microretrognathia, Thick vermilion border, Anteverted nares,... ORPHA:228396
Mohr Syndrome
Wormian bones, Accessory oral frenulum, Porencephalic cyst, Agenesis of central incisor, Tongue n... OMIM:252100
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Lateral Meningocele Syndrome
Scoliosis, Joint hypermobility, Wormian bones, Cryptorchidism, Dental crowding, Patent ductus art... OMIM:130720
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Small thenar eminence, Micrognathia, Webbed neck, Mandibular prognathia, Hypoplasia of the corpus... OMIM:618914
Acrodysostosis
Open bite, Delayed eruption of teeth, Short nose, Open mouth, Hypoplasia of the maxilla, Midface ... ORPHA:950
Oculocerebrofacial Syndrome, Kaufman Type
Thin vermilion border, Short philtrum, Dyspnea, Respiratory distress, Feeding difficulties, High,... ORPHA:2707
Lissencephaly Syndrome, Norman-Roberts Type
Agenesis of corpus callosum, Respiratory distress, Feeding difficulties, Microretrognathia, Dysph... ORPHA:89844
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Optic atrophy, Cl... OMIM:617201
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Oligodontia, Bulbous nose, Prominent frontal sinuses, Antegonial notching of m... OMIM:170390
Nablus Mask-Like Facial Syndrome
Long philtrum, Craniosynostosis, Short nose, Narrow mouth, Frontal bossing, Hypoplasia of the max... OMIM:608156
Axenfeld-Rieger Syndrome
Anal stenosis, Hypoplasia of the maxilla, Midface retrusion, Everted lower lip vermilion, Wide na... ORPHA:782
Schinzel-Giedion Syndrome
Scoliosis, Wormian bones, Choanal stenosis, Camptodactyly, Central hypothyroidism, Abnormality of... ORPHA:798
Adenylosuccinate Lyase Deficiency
Long philtrum, Hypointensity of cerebral white matter on MRI, Short nose, Flat occiput, Smooth ph... ORPHA:46
Mental Retardation, X-Linked, Syndromic 12
Mandibular prognathia, Wide mouth, Thick upper lip vermilion, Brachycephaly, Thick lower lip verm... OMIM:309545
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Sponastrime Dysplasia
Hypoplasia of the nasal bone, Short nose, Frontal bossing, Midface retrusion, Aplasia of the nasa... ORPHA:93357
Acrofacial Dysostosis, Cincinnati Type
Midface retrusion, Choanal atresia, Patent ductus arteriosus, Cleft palate, Microcephaly, Retrogn... OMIM:616462
Seckel Syndrome 4
Steep acetabular roof, Underdeveloped nasal alae, 11 pairs of ribs, Low-set ears, Short stature, ... OMIM:613676
Distal Limb Deficiencies-Micrognathia Syndrome
Narrow mouth, Microretrognathia, Microglossia, Cleft palate, Macrocephaly, High palate, Microdont... ORPHA:1307
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Tarsal synostosis, Narrow chest, Mandibular prognathia, Hemivertebrae, Hypopla... OMIM:263540
Cornelia De Lange Syndrome 5
Long philtrum, Thin vermilion border, Anteverted nares, Downturned corners of mouth, Feeding diff... OMIM:300882
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Disproportionate short stature, Short thorax, Narrow... ORPHA:1801
Holoprosencephaly 11
Holoprosencephaly, Synophrys, Proptosis, Thick eyebrow, Hypotelorism OMIM:614226
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Diastema, Smooth philtrum, Thin upper lip vermilion, Furrowed tongue, Macr... OMIM:300534
Angelman Syndrome
Macroglossia, Drooling, Mandibular prognathia, Constipation, Flat occiput, Wide mouth, Protruding... OMIM:105830
14Q22Q23 Microdeletion Syndrome
Cryptorchidism, Underdeveloped nasal alae, Abnormality of the hypothalamus-pituitary axis, Downtu... ORPHA:264200
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Branchial fistula, Low-set ears, Cupped ear, Se... OMIM:602588
Tetralogy Of Fallot
Proptosis OMIM:187500
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Short philtrum, Downturned corners of mouth, Anteverted nares, Feeding difficulties in infancy, H... OMIM:618672
Cardiospondylocarpofacial Syndrome
Scoliosis, Tarsal synostosis, Joint laxity, Anteverted nares, Synostosis of carpals/tarsals, Cone... OMIM:157800
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Arthrogryposis multiplex congenita, Craniosynostosis, Tarsal synost... OMIM:178110
Spondylospinal Thoracic Dysostosis
Micrognathia, Pulmonary hypoplasia, Hypoplasia of the maxilla OMIM:601809
Witteveen-Kolk Syndrome
Scoliosis, Cryptorchidism, Thin vermilion border, Joint laxity, Underdeveloped nasal alae, Narrow... OMIM:613406
Mental Retardation, Autosomal Dominant 23
Long philtrum, Bulbous nose, Downturned corners of mouth, Dental crowding, Drooling, Feeding diff... OMIM:615761
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the upper limbs, Aplasia/Hypoplasia of the optic nerve, Hig... ORPHA:40366
Cerebrofacioarticular Syndrome
Narrow mouth, Large fontanelles, Anal stenosis, Gray matter heterotopia, Hypoplasia of the corpus... ORPHA:314679
Pierre Robin Sequence With Facial And Digital Anomalies
Frontal bossing, Pierre-Robin sequence, Glossoptosis, Cleft palate, Micrognathia OMIM:311895
Desmosterolosis
Arthrogryposis multiplex congenita, Patent ductus arteriosus, Generalized osteosclerosis, Hypopla... OMIM:602398
Short Stature And Facioauriculothoracic Malformations
Overfolded helix, Proportionate short stature, Pectus carinatum, Pectus excavatum, High palate, L... OMIM:609654
Prieto X-Linked Mental Retardation Syndrome
Osteoporosis, Cryptorchidism, Patellar subluxation, Cerebral atrophy, Abnormality of the dentitio... OMIM:309610
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Wormian bones, Narrow mouth, Midface retrusion, Brachyturricephaly, Hi... OMIM:613849
Axenfeld-Rieger Syndrome, Type 2
Short philtrum, Anal stenosis, Mandibular prognathia, Everted lower lip vermilion, Umbilical hern... OMIM:601499
Insulin-Like Growth Factor I Deficiency
Radial deviation of finger, Clinodactyly, Short stature, Intrauterine growth retardation, Osteope... OMIM:608747
Pde4D Haploinsufficiency Syndrome
Long philtrum, Abnormal dental enamel morphology, Short philtrum, Short nose, Frontal bossing, Ma... ORPHA:439822
Rapp-Hodgkin Syndrome
Narrow mouth, Underdeveloped nasal alae, Hypoplasia of the maxilla, Small, conical teeth, Hypodon... OMIM:129400
Microcephaly-Deafness-Intellectual Disability Syndrome
Abnormal palate morphology, Everted lower lip vermilion, Low-set ears, Cupped ear, Sensorineural ... ORPHA:2533
Verheij Syndrome
Scoliosis, Short nose, Growth delay, Hemivertebrae, Vertebral fusion, Wide nasal bridge, Clinodac... OMIM:615583
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Thin vermilion border, Elbow dislocation, Overfolded helix, Low-set, pos... ORPHA:2631
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Wide nasal bridge, Short stature, Abnormality of the ribs, Optic atrop... ORPHA:1513
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Scoliosis, Cryptorchidism, Oligodontia, Craniosynostosis, Bulbous nose, Narrow mouth, Camptodacty... OMIM:309590
Acrodysostosis With Multiple Hormone Resistance
Hypoplasia of the nasal bone, Absent/hypoplastic paranasal sinuses, Anteverted nares, Midface ret... ORPHA:280651
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla OMIM:264270
Ck Syndrome
Scoliosis, Joint hypermobility, Hyperlordosis, Pachygyria, Dental crowding, Kyphosis, High palate... OMIM:300831
Shprintzen-Goldberg Craniosynostosis Syndrome
Craniosynostosis, Narrow palate, Wide anterior fontanel, Frontal bossing, Feeding difficulties in... OMIM:182212
Cornelia De Lange Syndrome 2
Anteverted nares, Downturned corners of mouth, Gastroesophageal reflux, Microcephaly, Smooth phil... OMIM:300590
Fraser Syndrome 1
Cryptorchidism, Underdeveloped nasal alae, Choanal stenosis, Calvarial skull defect, Dental crowd... OMIM:219000
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Cryptorchidism, Thin vermilion border, Craniosynostosis, Short metatarsal, Short phalanx of finge... OMIM:609945
Arthrogryposis, Distal, Type 1C
Scoliosis, Cryptorchidism, Pursed lips, Thin vermilion border, Narrow mouth, Wrist flexion contra... OMIM:619110
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Frontalis muscle weakness... OMIM:300580
Frias Syndrome
Downslanted palpebral fissures, Ptosis, Hypertelorism, Proptosis OMIM:609640
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Joint hypermobility, Overfolded helix, Midface retrusion, Everted lower lip vermilion, Low-set ea... OMIM:617101
Brachytelephalangic Chondrodysplasia Punctata
Tracheal calcification, Respiratory failure requiring assisted ventilation, Patent ductus arterio... ORPHA:79345
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Abnormality of the pinna, Wide nasal bridge, Low-set ears, Cupped ear,... OMIM:167730
Microcephaly 3, Primary, Autosomal Recessive
Proptosis OMIM:604804
Meier-Gorlin Syndrome 4
Narrow mouth, Thick lower lip vermilion, Feeding difficulties, Emphysema, Microcephaly, Micrognat... OMIM:613804
Baraitser-Winter Syndrome 1
Cryptorchidism, Overfolded helix, Iris coloboma, Patent ductus arteriosus, Postnatal growth retar... OMIM:243310
Chromosome 2P16.1-P15 Deletion Syndrome
Cryptorchidism, Camptodactyly, Metatarsus adductus, Sensorineural hearing impairment, Cortical dy... OMIM:612513
Treacher-Collins Syndrome
Open bite, Abnormal dental enamel morphology, Narrow mouth, Choanal atresia, Patent ductus arteri... ORPHA:861
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Short philtrum, Open mouth, High palate, Everted lower lip vermilion, Smooth philtrum, Abnormalit... OMIM:618342
X-Linked Intellectual Disability, Snyder Type
Small earlobe, Cryptorchidism, Asymmetry of the ears, Bulbous nose, Narrow mouth, Dental crowding... ORPHA:3063
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis, Cryptorchidism, Patellar subluxation, Finger clinodactyly, Abnormal number of incis... ORPHA:2958
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Absent nasal septal cartilage, Bilateral cleft lip and palate, Non-midline cleft lip, Tooth agene... ORPHA:2003
Aminopterin Syndrome Sine Aminopterin
Oligodontia, Frontal bossing, Megalencephaly, Umbilical hernia, Brachycephaly, Cleft palate, Macr... OMIM:600325
Baller-Gerold Syndrome
Scoliosis, Lambdoidal craniosynostosis, Underdeveloped nasal alae, Choanal stenosis, Narrow mouth... OMIM:218600
Smith-Magenis Syndrome
Scoliosis, Mandibular prognathia, Oral cleft, Abnormal tracheobronchial morphology, Abnormality o... OMIM:182290
Saethre-Chotzen Syndrome
Open bite, Convex nasal ridge, Craniosynostosis, Narrow palate, Sleep apnea, Hypoplasia of the ma... ORPHA:794
Sandestig-Stefanova Syndrome
Convex nasal ridge, Rocker bottom foot, Underdeveloped tragus, Hypoplasia of the corpus callosum,... OMIM:618804
Rubinstein-Taybi Syndrome 2
Convex nasal ridge, Carious teeth, Posterior helix pit, Narrow palate, Broad thumb, High palate, ... OMIM:613684
Weiss-Kruszka Syndrome
Colpocephaly, Short nose, Agenesis of corpus callosum, Overfolded helix, Hypoplasia of the corpus... OMIM:618619
Kagami-Ogata Syndrome
Long philtrum, Frontal bossing, Hypoplasia of the maxilla, Patent ductus arteriosus, Laryngomalac... OMIM:608149
Becker Nevus Syndrome
Scoliosis, Abnormality of tibia morphology, Pectus carinatum, Kyphosis, Upper limb asymmetry, Pec... ORPHA:64755
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Hypoplasia of the radius, Finger syndactyly, Conductive hearing impairme... ORPHA:246
Postaxial Acrofacial Dysostosis
Cryptorchidism, Congenital hip dislocation, Choanal atresia, Postnatal growth retardation, Short ... OMIM:263750
Neu-Laxova Syndrome 2
Cleft palate, High palate, Micrognathia, Microcephaly, Depressed nasal ridge OMIM:616038
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability, Short stature OMIM:251250
Aicardi Syndrome
Recurrent pneumonia, Prominence of the premaxilla, Spina bifida, Hiatus hernia, Pachygyria, Cavum... OMIM:304050
Arthrogryposis, Distal, Type 1A
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Congenital hip dislocation, Narrow... OMIM:108120
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Narrow chest, Patent ductus arteriosus, Postnat... OMIM:213980
Goldberg-Shprintzen Syndrome
Hypoplasia of the brainstem, Short philtrum, Pachygyria, Bulbous nose, Hypoplasia of the corpus c... OMIM:609460
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Long philtrum, Thin vermilion border, Hypoplasia of the brainstem, Bulbous nose, Feeding difficul... ORPHA:481152
Fetal Akinesia Deformation Sequence 4
Cryptorchidism, Rocker bottom foot, Arthrogryposis multiplex congenita, Micrognathia, Kyphosis, F... OMIM:618393
Wolf-Hirschhorn Syndrome
Scoliosis, Cryptorchidism, Abnormality of the philtrum, Downturned corners of mouth, Calvarial sk... ORPHA:280
Hydrolethalus
Cryptorchidism, Anencephaly, Gingival cleft, Anophthalmia, Micrognathia, Hydrocephalus, Postaxial... ORPHA:2189
Charge Syndrome
Scoliosis, Cryptorchidism, Coloboma, Choanal atresia, Iris coloboma, Postnatal growth retardation... OMIM:214800
Baraitser-Winter Syndrome 2
Long philtrum, Pachygyria, Coloboma, Webbed neck, Abnormality of the pinna, Wide mouth, Oral clef... OMIM:614583
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Respiratory distress, Midface retrusion, Protuberant abdomen, Hypoplasia of the co... OMIM:617102
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Large fontanelles, Mandibular prognathia, Abnormality of the zygomatic bone, Flat occiput, Unilat... ORPHA:2511
Charge Syndrome
Scoliosis, Cryptorchidism, Abnormality of tibia morphology, Narrow mouth, Overfolded helix, Choan... ORPHA:138
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Short finger, Flexion contracture, Vertebral fusion, Abnormal cervical curvatu... OMIM:312150
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Carious teeth, Thin vermilion border, Long philtrum, Hypoplasia of tee... ORPHA:50814
Aicardi Syndrome
Hiatus hernia, Short philtrum, Prominence of the premaxilla, Pachygyria, Aplasia/Hypoplasia of th... ORPHA:50
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Talon cusp, Tooth malposition, Short nose, Narrow mouth, Abnormality of canine, Abno... ORPHA:363417
Acrofacial Dysostosis 1, Nager Type
Scoliosis, Atresia of the external auditory canal, Patent ductus arteriosus, Absent radius, Micro... OMIM:154400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Growth delay, Pneumonia, Low-set ears, High palate, Retrognathia, Anteverted nares, C... OMIM:614069
Autosomal Recessive Robinow Syndrome
Scoliosis, Cryptorchidism, Open bite, Broad thumb, Downturned corners of mouth, Elbow dislocation... ORPHA:1507
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Anterior clefting of vertebral bod... OMIM:265000
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Chorioretinal coloboma, Short nose, Frontal bossing, Supernumerary ribs, Epi... ORPHA:163961
Wieacker-Wolff Syndrome
Scoliosis, Arthrogryposis multiplex congenita, Narrow chest, Camptodactyly, High palate, Microgna... OMIM:314580
Carpenter Syndrome 1
Agenesis of permanent teeth, Lambdoidal craniosynostosis, Aplasia/Hypoplasia of the corpus callos... OMIM:201000
Odontochondrodysplasia
Delayed eruption of teeth, Short nose, Frontal bossing, Respiratory distress, Death in infancy, P... ORPHA:166272
Pierpont Syndrome
Prominent median palatal raphe, Thin vermilion border, Short nose, Feeding difficulties, Midface ... OMIM:602342
Autism Spectrum Disorder Due To Auts2 Deficiency
Scoliosis, Cryptorchidism, Short philtrum, Arthrogryposis multiplex congenita, Narrow mouth, Kyph... ORPHA:352490
3Mc Syndrome 2
Prominence of the premaxilla, Depressed nasal tip, Craniosynostosis, Downturned corners of mouth,... OMIM:265050
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short toe, Broad thumb, Broad nasal tip, Short 5th metacarpal, 3-4 finger c... ORPHA:370010
Wolf-Hirschhorn Syndrome
Scoliosis, Cryptorchidism, Malrotation of small bowel, Downturned corners of mouth, Split hand, I... OMIM:194190
Isolated Brachycephaly
Hypertelorism, Proptosis ORPHA:35099
Coffin-Siris Syndrome 6
Wormian bones, Short philtrum, Broad nasal tip, Frontal bossing, Conductive hearing impairment, L... OMIM:617808
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Preaxial hand polydactyly, Posterior rib fusion, Pectus excavatum, Abnormality of the larynx, Hem... OMIM:608406
Anophthalmia Plus Syndrome
Spina bifida, Low-set, posteriorly rotated ears, Choanal atresia, Aplasia/Hypoplasia of the earlo... ORPHA:1104
Hypomandibular Faciocranial Dysostosis
Craniosynostosis, Short nose, Choanal stenosis, Laryngeal hypoplasia, Narrow mouth, Midface retru... ORPHA:1790
Pallister-Hall Syndrome
Cryptorchidism, Broad thumb, Atresia of the external auditory canal, Natal tooth, Choanal atresia... ORPHA:672
Bilateral Polymicrogyria
Perisylvian polymicrogyria, Arthrogryposis multiplex congenita, Facial diplegia, Drooling, Diffic... ORPHA:268940
Jawad Syndrome
4-5 toe syndactyly, Primary microcephaly, Hallux valgus, Short middle phalanx of the 5th finger, ... OMIM:251255
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Short finger, Flexion contracture, Vertebral fusion, Abnormal cervical curvatu... OMIM:253290
Acrocephalopolysyndactyly Type Iii
Craniosynostosis, Dental crowding, Oxycephaly, Mandibular prognathia, Malar flattening, Hypoplasi... OMIM:101120
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia of the 1st metacarpal, Hypoplasia of the ulna, Wide nasal bridge, Cupped ear, Clinodactyl... ORPHA:1352
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Contractures of the interphalangeal joint of the thumb, Short nose, Bulbous nose, Aganglionic meg... OMIM:613870
Diastrophic Dwarfism
Scoliosis, Cryptorchidism, Elbow dislocation, Overfolded helix, Respiratory insufficiency, Increa... ORPHA:628
Craniodigital-Intellectual Disability Syndrome
Short nose, Brachycephaly, Spina bifida occulta, Micrognathia, Narrow nasal bridge ORPHA:1514
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Wormian bones, Absent glenoid fossa, Epiphyseal stippling, Cryptorchidism, Narrow mout... ORPHA:96334
Ring Chromosome 21 Syndrome
Scoliosis, Holoprosencephaly, Narrow palm, Fused thoracic vertebrae, Thoracic hemivertebrae, Abno... ORPHA:1445
Microcephaly-Deafness Syndrome
Everted lower lip vermilion, Low-set ears, Cupped ear, Hearing impairment, Microcephaly, Microgna... OMIM:156620
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Short philtrum, Thin vermilion border, Bulbous nose, Feeding difficulties, Respiratory distress, ... ORPHA:261304
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Patent ductus arteriosus, Brachycephaly, High palate, Retrognathia, Micrognathia, Microcephaly, L... OMIM:618142
Gorlin Syndrome
Scoliosis, Cryptorchidism, Carious teeth, Hydrocephalus, Frontal bossing, Palmar pits, Mandibular... ORPHA:377
Otopalatodigital Syndrome Type 2
Scoliosis, Oligodontia, Tarsal synostosis, Narrow mouth, Narrow chest, Elbow dislocation, Large f... ORPHA:90652
Van Den Ende-Gupta Syndrome
Craniosynostosis, Choanal stenosis, Underdeveloped nasal alae, Hypoplasia of the maxilla, Dental ... OMIM:600920
German Syndrome
Open mouth, Midface retrusion, Dysphagia, Everted lower lip vermilion, Wide nasal bridge, Oral cl... ORPHA:2077
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Micrognathia, Cleft palate OMIM:172880
Trisomy 1Q
Cryptorchidism, Narrow mouth, Patent ductus arteriosus, Anophthalmia, Abnormality of the ribs, Hy... ORPHA:261344
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla OMIM:608154
Peho-Like Syndrome
Pachygyria, Short nose, Open mouth, Hypoplasia of the corpus callosum, Polymicrogyria, Retrognath... OMIM:617507
Larsen-Like Syndrome
Absent nasal bridge, Wide anterior fontanel, Frontal bossing, Brachycephaly, Cleft palate, Macroc... OMIM:608545
Zttk Syndrome
Scoliosis, Joint hypermobility, Thin vermilion border, Craniosynostosis, Narrow mouth, Downturned... OMIM:617140
Grant Syndrome
Open bite, Wormian bones, Large fontanelles, Frontal bossing, Abnormal palate morphology, Brachyc... ORPHA:2097
Recombinant Chromosome 8 Syndrome
Downturned corners of mouth, Anteverted nares, Thick lower lip vermilion, Midface retrusion, Cere... OMIM:179613
Treacher Collins Syndrome 4
Choanal stenosis, Respiratory failure requiring assisted ventilation, Cleft palate, Microcephaly,... OMIM:618939
Robinow Syndrome
Scoliosis, Cryptorchidism, Dental crowding, Hemivertebrae, Oral cleft, Short distal phalanx of fi... ORPHA:97360
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Thin upper lip vermilion, Cleft palate, Micrognathia, Anteverted nares ORPHA:2015
Holoprosencephaly 4
Semilobar holoprosencephaly, Median cleft lip and palate, Absent nasal septal cartilage, Depresse... OMIM:142946
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Scoliosis, Cryptorchidism, Broad thumb, High palate, Short neck, Long philtrum, Macrotia, Hypopla... OMIM:617452
Ceroid Lipofuscinosis, Neuronal, 10
Premature closure of fontanelles, Apnea, Cerebral atrophy, Respiratory insufficiency, Wide nasal ... OMIM:610127
Agnathia-Otocephaly Complex
Mandibular aplasia, Narrow mouth, Aglossia, Laryngeal hypoplasia, Respiratory distress, Holoprose... OMIM:202650
Microphthalmia, Syndromic 2
Scoliosis, Cryptorchidism, Oligodontia, Asymmetry of the ears, Iris coloboma, Patent ductus arter... OMIM:300166
Kniest Dysplasia
Laryngotracheomalacia, Joint stiffness, Delayed epiphyseal ossification, Short neck, Vertebral we... ORPHA:485
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Abnormal ilium morphology, Hydrocele testis, Thin vermilion border, Open mouth, Overfolded helix,... OMIM:614080
Acrodysostosis 1 With Or Without Hormone Resistance
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Delayed eruptio... OMIM:101800
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Underdeveloped nasal alae, Lower limb undergro... OMIM:186500
Spondyloepiphyseal Dysplasia, Nishimura Type
Long philtrum, Short nose, Wide anterior fontanel, Downturned corners of mouth, Anterior plagioce... ORPHA:163649
Perching Syndrome
Respiratory distress, Feeding difficulties, Dysphagia, High palate, Depressed nasal bridge OMIM:617055
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Short nose, Depressed nasal ridge, Rhizomelia, Metaphyseal cupping of metacarpals,... OMIM:300863
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Craniosynostosis, Short nose, Aplasia/Hypoplasia of the lungs, Brachycephaly,... ORPHA:2145
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sleep apnea, Agenesis of corpus callosum, Hydrocephalus, Sagittal craniosynostosis, Cerebellar ve... ORPHA:459061
Perlman Syndrome
Cryptorchidism, Thickened helices, Abnormality of upper lip, Short nose, Hyperinsulinemia, Open m... ORPHA:2849
Renpenning Syndrome 1
Scoliosis, Bulbous nose, Coloboma, Narrow mouth, Camptodactyly, Mandibular prognathia, Decreased ... OMIM:309500
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Talipes equinovarus, Arthrogryposis multiplex congenita, Scapular winging, Dental crowding, Micro... OMIM:617468
Gillessen-Kaesbach-Nishimura Syndrome
Underdeveloped nasal alae, Ulnar deviation of the hand, Narrow greater sciatic notch, Micrognathi... OMIM:263210
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metatarsal, Abnormality of the carpal bones, Abnormality of the ribs, Abnormality of the me... ORPHA:93351
Oculocerebrodental Syndrome
Scoliosis, Enamel hypoplasia, Oligodontia, Thoracic kyphosis, Sensorineural hearing impairment, D... ORPHA:557003
Auriculocondylar Syndrome 3
Laryngeal cleft, Bilateral conductive hearing impairment, Question mark ear, Stenosis of the exte... OMIM:615706
Shashi-Pena Syndrome
Scoliosis, Accelerated skeletal maturation, Osteoporosis, Deep palmar crease, Kyphosis, Low-set e... OMIM:617190
Shprintzen-Goldberg Syndrome
Apnea, Craniosynostosis, Frontal bossing, High, narrow palate, Dolichocephaly, Gastroesophageal r... ORPHA:2462
Pierpont Syndrome
Thin vermilion border, Everted lower lip vermilion, Long upper lip, Smooth philtrum, Thin upper l... ORPHA:487825
Cofs Syndrome
Camptodactyly of finger, Arthrogryposis multiplex congenita, Prominent metopic ridge, Micrognathi... ORPHA:1466
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Scoliosis, Cryptorchidism, Broad thumb, Cerebral cortical atrophy, High palate, Short neck, Wide ... ORPHA:505237
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Nasogastric tube feeding, Short nose, Abnormal periventricular white matter morphology, Cerebral ... ORPHA:329178
Monosomy 5P
Scoliosis, Finger syndactyly, Microretrognathia, Joint hyperflexibility, Low-set, posteriorly rot... ORPHA:281
Hypohidrotic Ectodermal Dysplasia
Abnormality of dental morphology, Frontal bossing, Cough, Abnormality of the dentition, Thick ver... ORPHA:238468
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Aplasia of the 1st metacarpal, Hypoplasia of the ulna, Wide nasal bridge, Cupped ear, Clinodactyl... OMIM:600123
Qazi-Markouizos Syndrome
Hypoplasia of teeth, Open mouth, Broad philtrum, Drooling, Chronic constipation, High, narrow pal... ORPHA:3010
Weaver Syndrome
Scoliosis, Accelerated skeletal maturation, Camptodactyly of finger, Cryptorchidism, Long philtru... ORPHA:3447
Temple Syndrome
Scoliosis, Joint hypermobility, Cryptorchidism, High palate, Decreased testicular size, Micrognat... OMIM:616222
Branchiooculofacial Syndrome
Cryptorchidism, Branchial anomaly, Overfolded helix, Iris coloboma, Postnatal growth retardation,... OMIM:113620
Eng-Strom Syndrome
Scoliosis, Camptodactyly of finger, Pectus excavatum, Short stature, Intrauterine growth retardat... ORPHA:1937
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Wide anterior fontanel, Short nose, Laryngeal hypoplasia, Downturned corners of mouth, Pierre-Rob... OMIM:217980
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Thin upper lip vermilion, Hyperplasia of the maxilla, Abnormal cerebral white matter morphology OMIM:618587
Fetal Trimethadione Syndrome
Short nose, Midface retrusion, Brachycephaly, High palate, Micrognathia, Microcephaly, Depressed ... ORPHA:1913
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Platyspondyly, Recurrent pneumon... OMIM:602271
Xq28 (MECP2) duplication
Narrow mouth, Drooling, Dysphagia, Constipation, Gastroesophageal reflux, Hypoplasia of the corpu... DECIPHER:45
Basal Cell Nevus Syndrome
Scoliosis, Irregular ossification of hand bones, Polydactyly, Abnormal sternum morphology, Mandib... OMIM:109400
Pontocerebellar Hypoplasia Type 10
Highly arched eyebrow, Long palpebral fissure, Long eyelashes, Proptosis ORPHA:411493
Mesomelic Dysplasia, Kantaputra Type
Cubitus valgus, Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Dumbbell-... ORPHA:1836
Acrocapitofemoral Dysplasia
Scoliosis, Narrow chest, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finge... OMIM:607778
Gómez-López-Hernández Syndrome
Thin vermilion border, Midface retrusion, Cerebellar vermis hypoplasia, Brachycephaly, Anteverted... ORPHA:1532
Cockayne Syndrome Type 2
Scoliosis, Enamel hypoplasia, Delayed eruption of primary teeth, Cryptorchidism, Male hypogonadis... ORPHA:90322
Subaortic Stenosis--Short Stature Syndrome
Short nose, Anteverted nares, Narrow mouth, Midface retrusion, Diastema, Wide nasal bridge, Short... OMIM:271960
Desmosterolosis
Narrow mouth, Patent ductus arteriosus, Intestinal malrotation, Increased bone mineral density, M... ORPHA:35107
Microphthalmia, Syndromic 3
Cryptorchidism, Coloboma, Patent ductus arteriosus, Postnatal growth retardation, Hemivertebrae, ... OMIM:206900
Meier-Gorlin Syndrome 3
Dyspnea, Narrow mouth, Thick lower lip vermilion, Feeding difficulties, Microretrognathia, Gastro... OMIM:613803
Meier-Gorlin Syndrome 5
Long philtrum, Feeding difficulties, Gastroesophageal reflux, Microcephaly, Micrognathia, Promine... OMIM:613805
Microcephaly 5, Primary, Autosomal Recessive
Highly arched eyebrow, Proptosis OMIM:608716
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory distress, Dysphagia, Respiratory insufficiency, Facia... OMIM:614399
Myhre Syndrome
Cryptorchidism, Narrow mouth, Camptodactyly, Mandibular prognathia, Patent ductus arteriosus, Res... OMIM:139210
Hypoglossia With Situs Inversus
Malnutrition, Narrow mouth, Respiratory distress, Hypodontia, Upper airway obstruction, Microglos... OMIM:612776
Hallermann-Streiff Syndrome
Wormian bones, Thin vermilion border, Narrow palate, Narrow mouth, Underdeveloped nasal alae, Nat... OMIM:234100
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Pursed lips, Long philtrum, Enlarged naris, Short columella, Gastroesophageal reflux, Cerebral at... OMIM:616266
Branchiootic Syndrome
Conductive hearing impairment, Branchial fistula, Atresia of the external auditory canal, Morphol... ORPHA:52429
Cohen Syndrome
Short philtrum, Open mouth, Feeding difficulties in infancy, Aplasia/Hypoplasia of the tongue, Ab... ORPHA:193
Cerebrofaciothoracic Dysplasia
Scoliosis, Narrow chest, Hemivertebrae, Cerebral cortical atrophy, Broad philtrum, Low posterior ... ORPHA:1394
Monosomy 18P
Carious teeth, Short philtrum, Tooth malposition, Downturned corners of mouth, Holoprosencephaly,... ORPHA:1598
Achondrogenesis Type 1B
Short thorax, Disproportionate short stature, Short neck, Short nose, Abnormal enchondral ossific... ORPHA:93298
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Short philtrum, Occipital cortical atrophy, Bulbous nose, Anteverted nares, Hypoplasia of the cor... ORPHA:411986
Ear-Patella-Short Stature Syndrome
Mandibular aplasia, Craniosynostosis, Dyspnea, Narrow mouth, Feeding difficulties, Respiratory di... ORPHA:2554
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Craniosynostosis, Narrow palate, Narrow mouth, Anteverted nares, Respiratory distress, Midface re... ORPHA:1555
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Scoliosis, Narrow palate, Overfolded helix, Patent ductus arteriosus, Hemivertebrae, Short neck, ... OMIM:618223
Otodental Syndrome
Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, ... ORPHA:2791
Focal Dermal Hypoplasia
Scoliosis, Aniridia, Enamel hypoplasia, Cryptorchidism, Oligodontia, Congenital hip dislocation, ... OMIM:305600
White-Sutton Syndrome
Short philtrum, Downturned corners of mouth, Open mouth, Midface retrusion, Feeding difficulties,... OMIM:616364
Williams-Beuren Region Duplication Syndrome
Short philtrum, Hypoplasia of the corpus callosum, Diastema, Patent ductus arteriosus, Cerebellar... OMIM:609757
Uruguay Faciocardiomusculoskeletal Syndrome
Scoliosis, Congenital hip dislocation, Dislocation of toes, Camptodactyly of toe, Broad palm, Kyp... OMIM:300280
Gomez-Lopez-Hernandez Syndrome
Wormian bones, Thin vermilion border, Craniosynostosis, Short nose, Wide anterior fontanel, Antev... OMIM:601853
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Intestinal malrotation, Smooth philtrum, Patent ductus arteriosus, Intestinal p... OMIM:300048
Hemifacial Microsomia
Anotia, Branchial anomaly, Atresia of the external auditory canal, Patent ductus arteriosus, Hemi... OMIM:164210
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Growth delay, Cerebral atrophy, Severe short stature, Neon... OMIM:619057
Cleidocranial Dysplasia
Open bite, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Sleep apnea, Large fo... ORPHA:1452
Carey-Fineman-Ziter Syndrome
Scoliosis, Cryptorchidism, Respiratory insufficiency, Micrognathia, Depressed nasal bridge, Flexi... OMIM:254940
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Flat occiput, Smooth philtrum, Patent ductus arteriosus, Optic atrophy, Sec... OMIM:608799
Intellectual Disability, Wolff Type
Scoliosis, Camptodactyly of finger, Cryptorchidism, Broad thumb, Bulbous nose, Thick lower lip ve... ORPHA:3080
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Convex nasal ridge, Abnormal clavicle morphology, Short neck, Kyphosis, Pectus exc... ORPHA:2522
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Hip subluxation, Sleep apnea, Downturned corners of mouth, Patent ductus arteriosu... ORPHA:444077
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Short nose, Curved linear dimple below the lower ... OMIM:305400
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormality of the antihelix, Abnormal dental enamel morphology, Elbow dislocation, Ma... ORPHA:2916
Bohring-Opitz Syndrome
Narrow palate, Hyperechogenic pancreas, Camptodactyly, Intestinal malrotation, Trigonocephaly, Mi... OMIM:605039
Frontorhiny
Midline nasal groove, Aplasia/Hypoplasia of the corpus callosum, Hypoplastic frontal sinuses, Lip... ORPHA:391474
Koolen-De Vries Syndrome
Scoliosis, Cryptorchidism, Abnormal dental enamel morphology, Narrow palate, Bulbous nose, Underd... ORPHA:96169
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the philtrum, Overfolded helix, Choanal atresia, Aplasia/Hypoplasia of the tongue,... ORPHA:2759
Chromosome 1P36 Deletion Syndrome
Scoliosis, Cryptorchidism, Delayed closure of the anterior fontanelle, Asymmetry of the ears, Cam... OMIM:607872
Robin Sequence-Oligodactyly Syndrome
Micrognathia, Glossoptosis, Abnormality of the dentition, Cleft palate ORPHA:3104
Auriculocondylar Syndrome
Macrocephaly, Narrow mouth, Difficulty in tongue movements, Dental crowding, Feeding difficulties... ORPHA:137888
15Q Overgrowth Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Dental crowding, Abnormal sternum morphology, M... ORPHA:314585
Bartsocas-Papas Syndrome 1
Arthrogryposis multiplex congenita, Short phalanx of finger, Underdeveloped nasal alae, Absent ra... OMIM:263650
Branchioskeletogenital Syndrome
Carious teeth, Thin vermilion border, Craniosynostosis, Downturned corners of mouth, Mandibular p... ORPHA:1299
Cerebrooculofacioskeletal Syndrome 3
Microcephaly, Micrognathia, Cleft palate OMIM:616570
Gaucher Disease, Type Ii
Apnea, Feeding difficulties, Protuberant abdomen, Dysphagia, Cerebral atrophy, Trismus, Recurrent... OMIM:230900
Neu-Laxova Syndrome
Scoliosis, Arthrogryposis multiplex congenita, Abnormality of the philtrum, Cerebral calcificatio... ORPHA:2671
Pseudodiastrophic Dysplasia
Anteverted nares, Frontal bossing, Midface retrusion, Smooth philtrum, Brachycephaly, Micrognathi... OMIM:264180
Brooks-Wisniewski-Brown syndrome
Agenesis of corpus callosum, Bulbous nose, Narrow mouth, Pectus excavatum, Flexion contracture, C... OMIM:300612
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Hyperplasia of the maxilla, Thoracic kyphoscoliosis, Pectus carinatum, 2-3 toe syndact... ORPHA:313892
Crouzon Syndrome With Acanthosis Nigricans
Hypertelorism, Hydrocephalus, Proptosis OMIM:612247
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Disproportionate short-limb short s... ORPHA:174
9P13 Microdeletion Syndrome
Abnormality of cartilage of external ear, Microretrognathia, Umbilical hernia, Wide nasal bridge,... ORPHA:324313
Walker-Warburg Syndrome
Cryptorchidism, Iris coloboma, Anophthalmia, Hydrocephalus, Pachygyria, Low-set ears, Cleft palat... ORPHA:899
2P15P16.1 Microdeletion Syndrome
Scoliosis, Narrow mouth, Enlarged thorax, Bilateral single transverse palmar creases, Sandal gap,... ORPHA:261349
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Growth delay, Pectus excavatum, Wide nasal bridge, Clinodactyly, Short stature, Broad nasal tip, ... ORPHA:73273
Lateral Meningocele Syndrome
Scoliosis, Wormian bones, Cryptorchidism, Dental crowding, Atresia of the external auditory canal... ORPHA:2789
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Scoliosis, Hip dysplasia, Short nose, Abnormal form of the vertebral bodies, Abnormality of the m... ORPHA:2370
Mandibulofacial Dysostosis, Guion-Almeida Type
Short nose, Anteverted nares, Respiratory distress, Midface retrusion, Deep philtrum, Choanal atr... OMIM:610536
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patent ductus arteriosus, Hypodontia, Wide nasal bridge, Selective tooth agenesis, Cleft upper li... OMIM:106260
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Wide nasal bridge, Short statu... OMIM:309620
Distal 17P13.1 Microdeletion Syndrome
Flat occiput, Microcephaly, Unilateral polymicrogyria, Increased overbite, Hypoplasia of the zygo... ORPHA:319171
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Scoliosis, Long philtrum, Decreased motor nerve conduction velocity, Decreased sensory nerve cond... OMIM:619026
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Scoliosis, Tarsal synostosis, C2-C3 subluxation, Abnormality of pelvic girdle ... OMIM:272460
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Long philtrum, Rocker bottom foot, Arthrogryposis multiplex congenita, Hypoplasia of the corpus c... OMIM:619072
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cryptorchidism, Craniosynostosis, 2-5 finger syndactyly, Abnormal periventricular white matter mo... ORPHA:468631
Raine Syndrome
Enamel hypoplasia, Narrow mouth, Choanal stenosis, Large fontanelles, Mandibular prognathia, Nata... OMIM:259775
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Scoliosis, Cryptorchidism, Narrow mouth, Dental crowding, Camptodactyly, Mandibular prognathia, D... OMIM:300998
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormal dental enamel morphology, Bulbous nose, Anteverted nares, Abnormal form of th... ORPHA:2180
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Macroglossia, Patent ductus arteriosus, Umbilical hernia, Brachydactyly, Protrudi... OMIM:612938
Fryns Microphthalmia Syndrome
Abnormality of the vertebral column, Macrotia, Bilateral cleft lip and palate, Neural tube defect... OMIM:600776
Meckel Syndrome, Type 8
Talipes equinovarus, Postaxial hand polydactyly, Short nose, Polydactyly, Low-set ears, Cleft pal... OMIM:613885
Robinow Syndrome, Autosomal Dominant 2
Cryptorchidism, Broad thumb, Dental crowding, Short distal phalanx of finger, Partial duplication... OMIM:616331
Frontometaphyseal Dysplasia 1
Scoliosis, Partial fusion of carpals, Long phalanx of finger, Wrist flexion contracture, Broad ph... OMIM:305620
Mosaic Trisomy 14
Camptodactyly of finger, Cryptorchidism, Anteverted nares, Narrow chest, Micrognathia, Low-set, p... ORPHA:1703
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Short stature, Brachydactyly, ... ORPHA:1436
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Accelerated skeletal maturation, Carious teeth, Small epiphyses, High palate, Advanced... OMIM:618363
Keratoconus Posticus Circumscriptus
Short neck, Growth delay, Limited elbow extension and supination, Abnormal vertebral segmentation... OMIM:244600
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Dysphagia, Hypoplasia of the corpus callosum, Retrognathia, Trigonocephaly, Respiratory fa... OMIM:617301
Squalene Synthase Deficiency
Macrotia, Micrognathia, Low-set, posteriorly rotated ears, Hypoplasia of the corpus callosum, 2-3... OMIM:618156
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Hypoplasia of the radius, Convex nasal ridge, Abnormality of the ribs, Ra... OMIM:617604
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Cryptorchidism, Short toe, Bulbous nose, Postnatal growth retardation, Hearing impairment, Short ... OMIM:612947
Pontocerebellar Hypoplasia, Type 3
Long philtrum, Hypoplasia of the brainstem, Hypoplasia of the pons, Downturned corners of mouth, ... OMIM:608027
Desbuquois Dysplasia 1
Scoliosis, Short metatarsal, Joint laxity, Narrow chest, Phalangeal dislocation, Broad first meta... OMIM:251450
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Mandibular aplasia, Aplasia/Hypoplasia of the cerebellum, Abnormal cranial nerve morphology, Narr... ORPHA:990
Auriculocondylar Syndrome 2
Apnea, Narrow mouth, Dental crowding, Snoring, Mandibular condyle aplasia, Cleft palate, Glossopt... OMIM:614669
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Proptosis OMIM:601420
Pitt-Hopkins Syndrome
Cryptorchidism, Short philtrum, Open mouth, Hypoplasia of the corpus callosum, Abnormal autonomic... OMIM:610954
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Prominent nasolabial fold, Short nose, Hypoplastic helices, Recurrent upper respiratory tract inf... ORPHA:391372
Asymmetric Short Stature Syndrome
Convex nasal ridge, Lumbar scoliosis, Hemihypotrophy of lower limb, Asymmetric short stature, Mic... OMIM:108450
20Q11.2 Microduplication Syndrome
Cryptorchidism, Trigonocephaly, Depressed nasal bridge, Limited elbow extension, Deep palmar crea... ORPHA:363659
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Feeding difficulties, Respiratory insufficiency due to muscle weakness, Pla... ORPHA:1143
Cutis Laxa, Autosomal Recessive, Type Ib
Convex nasal ridge, Prominence of the premaxilla, Bulbous nose, Emphysema, Pulmonary artery aneur... OMIM:614437
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Enlarged joints, Pectus carinatum, Kyphosis, Short finger, Sclerosis of skull base... OMIM:313420
Ulnar Hemimelia
Scoliosis, Radial club hand, Short forearm, Spinal dysraphism, Elbow pain, Limited shoulder movem... ORPHA:93320
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Short nose, Underdeveloped nasal alae, Taurodontia, Hypoplasia of the maxilla, Frontal bossing, E... OMIM:305100
Crisponi/Cold-Induced Sweating Syndrome 1
Carious teeth, Narrow mouth, Camptodactyly, High palate, Micrognathia, Elbow flexion contracture,... OMIM:272430
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia, Cupped ear, Joint stiffness, Short stature OMIM:261560
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Long philtrum, Frontal bossing, Hypoplasia of the zygomatic bone, Anteverted nares, Wide nose ORPHA:3074
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Absent phalangeal crease, Flexion contracture, Fused thoracic verte... OMIM:618469
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Lateral clavicle hook, Radioulnar synostosis, Elb... OMIM:171480
Branchiogenic-Deafness Syndrome
Abnormality of the middle ear ossicles, Branchial cyst, Branchial fistula, Atresia of the externa... OMIM:609166
Craniosynostosis 2
Unicoronal synostosis, Craniosynostosis, Frontal bossing, Trigonocephaly, Brachycephaly, Supernum... OMIM:604757
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Delayed eruption of primary teeth, Alveolar process hypopl... OMIM:273050
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Scoliosis, Carious teeth, Joint hyperflexibility, Low-set, posteriorly rotated ears, Down-sloping... ORPHA:1390
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Short thorax, Sacral dimple, Vertebral fusion, Short long bone, Talipes equinovarus, Vertebral se... OMIM:618845
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Scoliosis, Cryptorchidism, Oligodontia, Narrow palate, Narrow mouth, Camptodactyly, Bilateral sin... OMIM:235510
Richieri-Costa/Guion-Almeida Syndrome
Mandibular prognathia, Cleft palate, Brachycephaly, Cleft upper lip, Spina bifida occulta, Microc... OMIM:268850
Glossopharyngeal Neuralgia
Tongue pain, Mandibular pain, Abnormal palate morphology, Cranial nerve compression, Abnormal glo... ORPHA:221098
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, Talipes equinovarus, Frontal bossing, Micrognathia, Low-set, posteriorly rotated ... ORPHA:98791
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Cleft palate, Bifid uvula, Microcephaly, Retrognathia, Micrognathia, Submu... ORPHA:2521
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Short nose, Narrow mouth, Hypoplasia of the corpus callosum, Growth dela... ORPHA:1495
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... OMIM:128980
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Midface retrusion, Death in infancy, Smooth philtrum, Flat occiput, Wide nasal bridge, Thin upper... OMIM:235255
Atelosteogenesis, Type I
Short metatarsal, Narrow chest, Elbow dislocation, Thoracic platyspondyly, Multinucleated giant c... OMIM:108720
Fibrochondrogenesis 2
Short nose, Anteverted nares, Midface retrusion, Protuberant abdomen, Micrognathia, Malar flattening OMIM:614524
Warsaw Breakage Syndrome
Hypoplasia of the cochlea, High palate, 2-3 toe syndactyly, Wide mouth, Cupped ear, Hearing impai... OMIM:613398
Anauxetic Dysplasia 3
Joint hypermobility, Oligodontia, Hip subluxation, Narrow chest, Femoral bowing, Depressed nasal ... OMIM:618853
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Flat acetabular roof, Narrow greater sciatic notch, Cone-shaped epiphyses of the phala... OMIM:609616
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Cleft ala nasi, Mandibular prognathia, Narrow nas... ORPHA:3044
Weill-Marchesani Syndrome 1
Broad skull, Narrow palate, Tooth malposition, Abnormality of dental morphology, Hypoplasia of th... OMIM:277600
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimuation test, Anal atresia, Prominent occiput, Brachyceph... OMIM:220210
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Joint hypermobility, Amelogenesis imperfecta, Cryptorchidism, Congenital hip d... OMIM:617052
Diaphanospondylodysostosis
Short nose, Large fontanelles, Respiratory distress, Protuberant abdomen, Tracheomalacia, Respira... OMIM:608022
Vacterl With Hydrocephalus
Anotia, Cryptorchidism, Hemivertebrae, Anophthalmia, Micrognathia, Hydrocephalus, Hypoplasia of t... ORPHA:3412
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Cryptorchidism, Camptodactyly, Postnatal growth retardation, Abnormality of the ribs, ... OMIM:611209
Ichthyosis, Congenital, Autosomal Recessive 4B
Ectropion, Proptosis OMIM:242500
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Orofaciodigital Syndrome Xvii
Clubbing of fingers, Central Y-shaped metacarpal, Polydactyly, Short middle phalanx of the 2nd fi... OMIM:617926
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Micrognathia, Respiratory failure, Respiratory insufficiency OMIM:228940
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Short philtrum, Aplasia/Hypoplasia of the corpus callosum, Death in infancy, Wide mouth, Cerebral... ORPHA:1194
Split Lower Lip
Lower lip pit, Narrow maxilla, Abnormality of lower lip, Abnormality of the dentition OMIM:183400
Trisomy 8P
Cryptorchidism, Thin vermilion border, Short fifth metatarsal, Malrotation of small bowel, Periph... ORPHA:264450
Radio-Tartaglia Syndrome
Scoliosis, Bulbous nose, Dental crowding, High palate, High, narrow palate, Micrognathia, Precoci... OMIM:619312
Cowden Syndrome 5
Progressive macrocephaly, Narrow mouth, Furrowed tongue, Colonic diverticula, High palate, Hamart... OMIM:615108
Insulin-Like Growth Factor I, Resistance To
Narrow mouth, Sandal gap, High palate, Micrognathia, Long philtrum, Webbed neck, Pectus excavatum... OMIM:270450
Familial Visceral Myopathy
Anteverted nares, Aganglionic megacolon, Umbilical hernia, Cleft palate, Microcephaly, Micrognath... ORPHA:2604
Wieacker-Wolff Syndrome, Female-Restricted
Long philtrum, Drooling, Downturned corners of mouth, Feeding difficulties, Microretrognathia, Dy... OMIM:301041
Lethal Recessive Chondrodysplasia
Macroglossia, Micrognathia, Respiratory distress ORPHA:1423
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Dyspnea, Dysphagia, Cough, Respiratory failure requirin... ORPHA:90117
6Q16 Microdeletion Syndrome
Bulbous nose, Abnormal ear morphology, Abnormal thorax morphology, Low-set ears, Tapered finger, ... ORPHA:171829
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Joint laxity, Childhood onset short-limb short stature, Metaph... OMIM:177170
Warburg Micro Syndrome 3
Narrow palate, Short nose, Downturned corners of mouth, Hypoplasia of the corpus callosum, Second... OMIM:614222
Pelvis-Shoulder Dysplasia
Bilateral external ear deformity, Iris coloboma, Hypoplastic ischia, Acetabular dysplasia, Neonat... ORPHA:2839
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Oral synechia, Cleft palate, Micrognathia ORPHA:2016
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Pachygyria, Kyphosis, Achilles tendon contracture, Vertebral fusion, Sh... OMIM:606612
Lambotte Syndrome
Semilobar holoprosencephaly, Convex nasal ridge, Narrow mouth, Macrotia, Atresia of the external ... OMIM:245552
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Joint hypermobility, Thin vermilion border, Downturned corners of mouth, Proportionate short stat... ORPHA:500150
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Cryptorchidism, Thin vermilion border, Long philtrum, Sleep apnea, Coloboma, Depressed nasal ridg... ORPHA:464288
Jeune Syndrome
Abnormal clavicle morphology, Abnormality of the ribs, Short thorax, Postaxial hand polydactyly, ... ORPHA:474
Tetrasomy 5P
Long philtrum, Wide anterior fontanel, Short nose, Respiratory distress, Midface retrusion, Lipom... ORPHA:3309
Achondrogenesis, Type Ib
Stillbirth, Umbilical hernia, Respiratory insufficiency, Malar flattening, Abdominal distention OMIM:600972
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Underdeveloped nasal alae, Frontal bossing, Incisor macrodontia, Abnormalit... ORPHA:438216
49,Xxxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont... ORPHA:96264
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Wormian bones, Flared iliac wing, Thoracic kyphosis, Small epiphyses, Short femoral neck, Short n... OMIM:300232