Gene Summary

Name:
SET domain containing 5
Synonyms:
2900045N06Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
vertebral fusion Setd5tm1a(EUCOMM)Wtsi HET Early adult 3.92×10-05
decreased grip strength Setd5tm1a(EUCOMM)Wtsi HET   Early adult 7.49×10-05
preweaning lethality, complete penetrance Setd5tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal tooth morphology Setd5tm1a(EUCOMM)Wtsi HET Early adult 3.90×10-06
abnormal cranium morphology Setd5tm1a(EUCOMM)Wtsi HET Early adult 6.16×10-10
abnormal maxilla morphology Setd5tm1a(EUCOMM)Wtsi HET Early adult 6.47×10-07
abnormal incisor morphology Setd5tm1a(EUCOMM)Wtsi HET   Early adult 6.43×10-06
decreased circulating glucose level Setd5tm1a(EUCOMM)Wtsi HET   Early adult 7.00×10-05
abnormal auditory brainstem response Setd5tm1a(EUCOMM)Wtsi HET   Early adult 2.13×10-07
abnormal coat/hair pigmentation Setd5tm1a(EUCOMM)Wtsi HET Early adult 2.66×10-09
increased regulatory T cell number Setd5tm1a(EUCOMM)Wtsi HET Early adult 0.00
absent pinna reflex Setd5tm1a(EUCOMM)Wtsi HET Early adult 9.77×10-06
abnormal snout morphology Setd5tm1a(EUCOMM)Wtsi HET Early adult 8.23×10-11
increased monocyte cell number Setd5tm1a(EUCOMM)Wtsi HET Early adult 0.00

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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.

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Eye Morphology

Images Slit Lamp

2 Images

Legacy Phenotype Associated Images

View all 268 images

Human diseases caused by Setd5 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 Setd5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mental Retardation, Autosomal Dominant 23
Scoliosis, Long philtrum, Hyperlordosis, Low anterior hairline, Drooling, Downturned corners of m... OMIM:615761
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Scoliosis, Long philtrum, Low anterior hairline, Highly arched eyebrow, Downturned corners of mou... ORPHA:404440

The table below shows human diseases predicted to be associated to Setd5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Atrial fibrillation,... OMIM:604169
Anonychia-Microcephaly Syndrome
Carious teeth, Aplastic/hypoplastic toenail, Abnormality of the dentition, Anonychia ORPHA:1094
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Pilodental Dysplasia With Refractive Errors
Brittle scalp hair, Abnormality of the nail, Reticular hyperpigmentation, Wide nasal bridge, Hypo... OMIM:262020
Regional Odontodysplasia
Enamel hypoplasia, Abnormal dental enamel morphology, Carious teeth, Pulp calcification, Hypoplas... ORPHA:83450
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Fryns Macrocephaly
Short philtrum, Everted lower lip vermilion, Wide mouth, Macrodontia of permanent maxillary centr... OMIM:600302
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Platyspondyly, Mandibular prognathia, Delayed skeletal matu... OMIM:601216
Kbg Syndrome
Scoliosis, Long philtrum, Oligodontia, Macrotia, Thoracic kyphosis, Persistent open anterior font... ORPHA:2332
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Oligodontia, Platyspondyly, Joint contracture of the 5th finger, Irregular vertebral... OMIM:601668
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Syncope, Left bundle branch block, Hepatomegaly, A... OMIM:115197
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Polyarticular arthritis, Recurrent sinusitis, B lympho... OMIM:619281
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Dextrocardia With Unusual Facies And Microphthalmia
Macrotia, Vertebral fusion, Cleft palate, Micrognathia, Vertebral segmentation defect OMIM:221950
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Cleft Lip/Palate
Abnormal number of permanent teeth, Agenesis of lateral incisor, Conductive hearing impairment, O... ORPHA:199306
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Abnormality of the nail, Taurodontia, Abnormal hair quantity, Periapical toot... ORPHA:3352
Cantu Syndrome
Lymphedema, Pericardial effusion, Patent ductus arteriosus, Umbilical hernia, Congenital hypertro... OMIM:239850
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Talon cusp, Tooth malposition, Narrow mouth, Tarsal synostosis, Short nose, Abnormal... ORPHA:363417
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal dental enamel morphology, Abnormality of the antihelix, Low posterior hairlin... ORPHA:2916
Cerebellofaciodental Syndrome
Scoliosis, Sparse hair, Taurodontia, Macrodontia of permanent maxillary central incisor, Sparse a... OMIM:616202
Aarskog-Scott Syndrome
Long philtrum, Delayed eruption of teeth, Camptodactyly of finger, Genu recurvatum, Joint hyperfl... ORPHA:915
Intellectual Disability, Birk-Barel Type
Highly arched eyebrow, Short philtrum, Open mouth, Broad philtrum, Congenital finger flexion cont... ORPHA:166108
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Dentinogenesis Imperfecta
Joint hypermobility, Finger joint hypermobility, Generalized hypoplasia of dental enamel, Abnorma... ORPHA:49042
Brachydactyly, Type B1
Hypoplastic sacrum, Anonychia, Camptodactyly, Hemivertebrae, Vertebral fusion, Delayed cranial su... OMIM:113000
Temtamy Preaxial Brachydactyly Syndrome
Highly arched eyebrow, Talon cusp, Tarsal synostosis, Radioulnar synostosis, Bilateral sensorineu... OMIM:605282
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Pericardial effusion, Atrial flutter, Atrial fibrillation, Congestive hea... OMIM:115200
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Genu valgum, Abnormality of dental morphology, Low-set, posteriorly ro... ORPHA:2972
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Tarsal synostosis, Low posterior hairline, Mandibular prognathia, Hypodontia, ... OMIM:263540
Ethanolaminosis
Cardiomegaly OMIM:227150
Liang-Wang Syndrome
Macroglossia, Downturned corners of mouth, Everted lower lip vermilion, Diastema, Wide mouth, Mac... OMIM:618729
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Oral ulcer, Lymphopenia, Leukemia, Periodontitis, Neutropenia, Recurrent aphthous st... ORPHA:486
Otopalatodigital Syndrome Type 1
Oligodontia, Elbow dislocation, Synostosis of carpal bones, Hypoplastic frontal sinuses, Anodonti... ORPHA:90650
Anonychia With Flexural Pigmentation
Carious teeth, Anonychia, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypo... ORPHA:69125
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Pycnodysostosis
Scoliosis, Wormian bones, Delayed eruption of primary teeth, Carious teeth, Narrow palate, Absent... OMIM:265800
Clark-Baraitser syndrome
Scoliosis, Genu valgum, Joint laxity, Genu recurvatum, Kyphosis, Maxillary lateral incisor microd... OMIM:300602
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Delayed eruption of teeth, Abnormality of the dentition, Hearin... ORPHA:2222
Gorlin Syndrome
Scoliosis, Carious teeth, Mandibular prognathia, Melanocytic nevus, Hemivertebrae, Vertebral fusi... ORPHA:377
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Low posterior hairline, Conductive hearing impairment, Abnormality of the pinna, Cervi... OMIM:214300
Maxillonasal Dysplasia
Open bite, Scoliosis, Patchy distortion of vertebrae, Short nose, Mandibular prognathia, Tooth ag... ORPHA:1248
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormality of the nail, Hypoplastic toenails, Agenesis of permanent t... ORPHA:2228
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyphoscoliosis, ... OMIM:277300
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Amelogenesis imperfecta, Carious teeth, Accelerated skeletal maturation, Hyperlordosis... OMIM:618363
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Cohen Syndrome
Joint hypermobility, Short philtrum, Genu valgum, Cubitus valgus, Bone spicule pigmentation of th... OMIM:216550
Trichodentoosseous Syndrome
Abnormal hair morphology, Taurodontia, Increased bone mineral density, Microdontia, Widely spaced... OMIM:190320
Verheij Syndrome
Scoliosis, Long philtrum, Short nose, Hemivertebrae, Thin upper lip vermilion, Vertebral fusion, ... OMIM:615583
Atkin-Flaitz Syndrome
Scoliosis, Genu valgum, Joint laxity, Genu recurvatum, Kyphosis, Maxillary lateral incisor microd... OMIM:300431
Growth Hormone Insensitivity Syndrome
Delayed eruption of teeth, Abnormality of the mouth, Abnormality of the nail, Insulin resistance,... ORPHA:181393
Oculodentodigital Dysplasia, Autosomal Recessive
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Delayed eruption of teet... OMIM:257850
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Lymphopenia, Neutropenia, Recurrent aphthous stomatitis ORPHA:2688
Frontometaphyseal Dysplasia 1
Scoliosis, Hirsutism, Partial fusion of carpals, Sensorineural hearing impairment, Wrist flexion ... OMIM:305620
Charcot-Marie-Tooth Disease, Type 4B1
Scoliosis, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial... OMIM:601382
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Isolated Klippel-Feil Syndrome
Scoliosis, Abnormal cranial nerve morphology, Low posterior hairline, Abnormality of the vertebra... ORPHA:2345
Split-Hand/Foot Malformation 3
Narrow mouth, Microretrognathia, Camptodactyly, Ridged nail, Abnormality of the pinna, Nail dyspl... OMIM:246560
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Narrow mouth, Short nose, Generalized hyperpigmentation, Abnormal oral ... ORPHA:1355
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Arthrogryposis multiplex congenita, Craniosynostosis, Tarsal synost... OMIM:178110
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Pericardial effusion, Muscular dystrophy,... ORPHA:300751
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:616501
Kbg Syndrome
Long philtrum, Oligodontia, Low anterior hairline, Macrotia, Thoracic kyphosis, Delayed skeletal ... OMIM:148050
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment, Malar flattening, Short nose, Hypoplasia of the maxilla OMIM:122880
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Hyperplasia of the maxilla, Narrow palate, Thoracic kyphoscoliosis, Dental crowding, L... ORPHA:313892
Mental Retardation, Autosomal Dominant 21
Long philtrum, Thin vermilion border, Narrow mouth, Low-set, posteriorly rotated ears, Incisor ma... OMIM:615502
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Pyle Disease
Scoliosis, Delayed eruption of teeth, Carious teeth, Platyspondyly, Limited elbow extension, Genu... OMIM:265900
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Platyspondyly, Short philtrum, Thin vermilion border, Osteopo... OMIM:156510
Oculotrichodysplasia
Trichodysplasia, Carious teeth, Generalized hypotrichosis, Agenesis of permanent teeth, Sparse ax... OMIM:257960
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Horner syndrome, Kyphosis, Poliosis, Patchy alopecia, Short mandibular... OMIM:141300
Pili Torti
Abnormal dental enamel morphology, Abnormal eyebrow morphology, Abnormality of the nail, Abnormal... ORPHA:2889
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Arthrogryposis, Distal, Type 2A
Pursed lips, Scoliosis, Restricted neck movement due to contractures, Narrow mouth, Dental crowdi... OMIM:193700
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Leukopenia, Refractory anemia OMIM:616871
Griscelli Syndrome, Type 2
Hemophagocytosis, Melanin pigment aggregation in hair shafts, Silver-gray hair, Accumulation of m... OMIM:607624
Waardenburg Syndrome Type 1
Scoliosis, Premature graying of hair, Mandibular prognathia, Heterochromia iridis, White hair, Sy... ORPHA:894
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... OMIM:252011
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Scoliosis, Low anterior hairline, Tremor, Decreased motor nerve conduction velocity, Decreased se... OMIM:218000
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Pleural effusion, Growth delay, Tricuspid regurgitation, Hepatomegaly, Pulmonic ... ORPHA:2414
Otodental Dysplasia
Long philtrum, Pulp calcification, Ankylosis, Taurodontia, Hypodontia, Sensorineural hearing impa... OMIM:166750
Microcephalic Primordial Dwarfism, Montreal Type
Open bite, Scoliosis, Carious teeth, Low posterior hairline, Premature graying of hair, Abnormal ... ORPHA:2617
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hearing impairment, Hy... ORPHA:42665
Atkin-Flaitz Syndrome
Macrotia, Everted lower lip vermilion, Abnormality of the dentition, Thick vermilion border, Maxi... ORPHA:1193
Koolen-De Vries Syndrome
Scoliosis, Abnormal dental enamel morphology, Hypopigmentation of hair, Narrow palate, Abnormalit... ORPHA:96169
Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Camptodactyly of finger, Carious teeth, Hypodontia, Nail dysplasia, Oral mucosal blisters, Nail d... OMIM:226650
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Sparse eyelashes, Dental crowding, Conductive hearing impairme... OMIM:616367
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Patent foramen ov... ORPHA:555874
Stickler Syndrome Type 1
Long philtrum, Platyspondyly, Abnormality of vertebral epiphysis morphology, Short nose, Joint hy... ORPHA:90653
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Long philtrum, Short neck, Low posterior hairline, Everted lower lip vermilion, Flexion contractu... OMIM:616549
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Scoliosis, Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality... OMIM:617519
Osteolysis Syndrome, Recessive
Osteolytic defects of the distal phalanges of the hand, Osteolytic defects of the middle phalange... OMIM:259610
Histidinuria-Renal Tubular Defect Syndrome
Long philtrum, Hypoplastic toenails, Macrotia, Hypoglycemia, Wide nasal bridge, Sensorineural hea... ORPHA:2158
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Glucose intolerance, Thoracic hemivertebrae, Wide nasal bridge, Fused cervical vertebr... OMIM:309620
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Smooth philtrum, Synophrys, Interictal epileptiform activity, Thin upper lip vermilion, Widely-sp... OMIM:618737
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Wide nasal bridge, Hypoplasia of the... OMIM:612541
Trisomy 4P
Scoliosis, Camptodactyly of finger, Carious teeth, Abnormality of the antihelix, Low anterior hai... ORPHA:1738
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Flexion contracture, Fused thoracic vertebrae, Cleft palate, Antecu... OMIM:618469
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Maxillonasal Dysplasia, Binder Type
Short nose, Dental malocclusion, Patchy distortion of vertebrae, Large earlobe, Vertebral clefting OMIM:155050
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia, Coronal craniosynostosis, Micrognathia, Malar flattening, Hypoplasia of th... OMIM:241310
Lateral Meningocele Syndrome
Scoliosis, Long philtrum, Joint hypermobility, Wormian bones, Short neck, Abnormality of the midd... OMIM:130720
Flynn-Aird Syndrome
Osteoporosis, Progressive sensorineural hearing impairment, Carious teeth, Increased bone density... OMIM:136300
Hydrops Fetalis
Polyhydramnios, Arrhythmia, Abnormal heart morphology, Lymphedema, Pleural effusion, Pericardial ... ORPHA:1041
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Lowry-Maclean Syndrome
Osteoporosis, Delayed eruption of primary teeth, Talon cusp, Craniosynostosis, Short nose, Downtu... ORPHA:2409
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Hypoplasia of teeth, Abnormal hair morphology, Abnormality of dental morphology, Premature loss o... ORPHA:248
Otodental Syndrome
Progressive sensorineural hearing impairment, Long philtrum, Carious teeth, Abnormal dental ename... ORPHA:2791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Macroglossia, Kyphosis, Achilles tendon contracture, Vertebral fusion, ... OMIM:606612
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Abcd Syndrome
Albinism, Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Craniolenticulosutural Dysplasia
Scoliosis, Long philtrum, Thin vermilion border, Carious teeth, Delayed eruption of teeth, Hypopl... ORPHA:50814
Asymmetric Short Stature Syndrome
Micrognathia, Fused cervical vertebrae, Lumbar scoliosis, Dental crowding OMIM:108450
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Abnormality of the nail, Midline notch of upper alveolar ridge,... OMIM:129540
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Metacarpal osteolysis, Carpal osteolysis, Ankle swelling, Osteolysis invol... OMIM:166300
Shashi-Pena Syndrome
Scoliosis, Accelerated skeletal maturation, Osteoporosis, Highly arched eyebrow, Kyphosis, Hypogl... OMIM:617190
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Neutropenia, Partial albinism ORPHA:90023
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Premature Aging Syndrome, Penttinen Type
Scoliosis, Delayed eruption of teeth, Thin vermilion border, Wormian bones, Sparse hair, Osteolyt... OMIM:601812
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Hepatomegaly, Edema, Ascites, Abnormal cardiac septum morphology, Hepatospl... OMIM:608776
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Short neck, Abnormality of dental morphology, Kyphosis, Malar prominence, Microgna... ORPHA:2522
Keratoconus Posticus Circumscriptus
Cleft palate, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion,... OMIM:244600
Eem Syndrome
Carious teeth, Abnormality of retinal pigmentation, Abnormality of dental morphology, Absent eyeb... ORPHA:1897
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Thin vermilion border, Carious teeth, Low posterior hairline, Short nose, Hypoplastic toenails, M... ORPHA:2701
Nablus Mask-Like Facial Syndrome
Craniosynostosis, Narrow mouth, Camptodactyly, High palate, Short neck, Frontal upsweep of hair, ... OMIM:608156
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Carious teeth, Melanocytic nevus, Flexion contracture, Hypodontia, Hyperpigmentation of the skin,... OMIM:612079
Acrocraniofacial Dysostosis
Short philtrum, Craniosynostosis, Abnormality of the vertebral column, Conductive hearing impairm... OMIM:201050
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Sparse hair, Taurodontia OMIM:272980
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Scoliosis, Osteoporosis, Camptodactyly of finger, Kyphosis, Long eyelashes, Hypoglycemia, Abnorma... ORPHA:48431
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Short philtrum, Abnormal dental enamel morphology, Hypoplastic toenail... ORPHA:2325
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Narrow mouth, Short nose, Ulnar deviation of the wrist, Sensorineural he... ORPHA:1529
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Low posterior hairline, Conductive hearing impairment, Cervical C2/C3 vertebral fusion... OMIM:118100
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Increased ... OMIM:312150
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Rubinstein-Taybi Syndrome 2
Carious teeth, Posterior helix pit, Narrow palate, Hirsutism, Long eyelashes, Retrognathia, Incre... OMIM:613684
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis, Abnormality of the pinna OMIM:610680
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Osteolysis, Narrow palate, Gingival... ORPHA:3019
Cardiospondylocarpofacial Syndrome
Scoliosis, Long philtrum, Freckling, Tarsal synostosis, Joint laxity, Conductive hearing impairme... OMIM:157800
8Q22.1 Microdeletion Syndrome
Long philtrum, Camptodactyly of finger, Craniosynostosis, Abnormality of the antihelix, Highly ar... ORPHA:178303
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Cubitus valgus, Genu valgum, Sparse facial hair, Sparse axillary hair, Disharmonious carpal bone,... OMIM:608154
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Scoliosis, Hyperlordosis, Failure of eruption of permanent teeth, Tarsal synos... OMIM:272460
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth, Ridged nail, Alopecia OMIM:614564
Spondylocostal Dysostosis 4, Autosomal Recessive
Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Spina bifida occulta, Block... OMIM:613686
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Shovel-shaped maxillary central incisors, Increased overbite, Dental crowding OMIM:600907
Intermediate Osteopetrosis
Cortical sclerosis, Abnormality of dental morphology, Sandwich appearance of vertebral bodies, Op... ORPHA:210110
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Thoracic kyphoscoliosis, Generalized hypoplasia of dental enamel, Flexion contract... OMIM:203550
Frontonasal Dysplasia 1
Conductive hearing impairment, Hypoplastic frontal sinuses, Camptodactyly, Widow's peak, Wide nas... OMIM:136760
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Onychauxis, Postprandial hyperglycemia, Mandibular progna... OMIM:262190
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules OMIM:614072
Melanocytic Nevus Syndrome, Congenital
Long philtrum, Prominence of the premaxilla, Short nose, Open mouth, Congenital giant melanocytic... OMIM:137550
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Mandibular prognathia, Kyphosis, High palate, Hypoplasia of the maxilla OMIM:300676
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Carious teeth, Sparse hair, Alopecia, Nail dystrophy OMIM:616353
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Open mouth, Dental crowding, Wide nasal bridge, Shovel-shaped maxillary central incisors, Sparse ... OMIM:600906
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hyperlordosis, Long philtrum, Thin vermilion border, Hypoplastic sweat glands, Localized hypoplas... ORPHA:73223
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Increased ... OMIM:253290
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Thoracic hemivertebrae, Type II diabetes mellitus, Fused cervical vertebrae, Abnormal ... ORPHA:1436
X-Linked Intellectual Disability Due To Gria3 Mutations
Scoliosis, Uplifted earlobe, Short philtrum, Narrow palate, Joint laxity, Open mouth, Macrotia, G... ORPHA:364028
Lymphatic Malformation 7
Atrial septal defect, Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fe... OMIM:617300
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental color, Hypopl... ORPHA:1028
Fibrodysplasia Ossificans Progressiva
Scoliosis, Small cervical vertebral bodies, Conductive hearing impairment, Ectopic ossification i... OMIM:135100
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Carious teeth, Abnormal dental enamel morphology, Micrognathia, Hyperlordosis, Abnormality of den... ORPHA:3253
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Scoliosis, Delayed eruption of teeth, Oligodontia, Narrow palate, Narrow mouth, Conical incisor, ... OMIM:235510
Waardenburg Syndrome, Type 3
Camptodactyly of finger, Heterochromia iridis, Premature graying of hair, Mandibular prognathia, ... OMIM:148820
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Thin vermilion border, Genu valgum, Cubitus valgus, Conical incisor, H... ORPHA:289
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Platyspondyly, Hypopigmentation of hair, Albinism, Kyphosis, Hypopigmentation of th... ORPHA:2786
Acrodysostosis 2 With Or Without Hormone Resistance
Accelerated skeletal maturation, Short nose, Red hair, Mandibular prognathia, Fair hair, Spinal c... OMIM:614613
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormality of the vertebral column, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:109120
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Hypoplastic sacrum, Dental crowding, Triangular mouth, Short neck, Micrognathia, Long ... OMIM:268310
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Prominence of the premaxilla, Narrow mouth, Congenital hip dislocation, ... ORPHA:2412
Mental Retardation, Buenos Aires Type
Carious teeth, Cuboid-shaped thoracolumbar vertebral bodies, Mandibular prognathia, Wide mouth, L... OMIM:249630
Charcot-Marie-Tooth Disease, Type 4C
Scoliosis, Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potenti... OMIM:601596
Ring Chromosome 21 Syndrome
Scoliosis, Fused thoracic vertebrae, Thoracic hemivertebrae, EEG abnormality, Multiple cafe-au-la... ORPHA:1445
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Genu valgum, Delayed eruption of primary teeth, Posteriorl... OMIM:273050
Lichtenstein Syndrome
Enamel hypoplasia, Osteoporosis, Carious teeth, Downturned corners of mouth, Hirsutism, Neutropen... OMIM:246550
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis OMIM:260900
Atelosteogenesis, Type Iii
Scoliosis, Cervical segmentation defect, Short neck, Elbow dislocation, Knee dislocation, Flat ac... OMIM:108721
Rapp-Hodgkin Syndrome
Decreased number of sweat glands, Small nail, Narrow mouth, Sparse hair, Pili canaliculi, Small, ... OMIM:129400
Cleft Velum
Conductive hearing impairment, Cleft soft palate, Velopharyngeal insufficiency, Hypoplasia of the... ORPHA:99772
Acrodysostosis
Open bite, Delayed eruption of teeth, Accelerated skeletal maturation, Epiphyseal stippling, Abno... ORPHA:950
X-Linked Intellectual Disability, Porteous Type
Short philtrum, Macrotia, Mandibular prognathia, Cupped ear, Frontal balding, Hypoplasia of the m... ORPHA:93945
Localized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Abnormality of dental color, Dental enamel pits, Scarring alopecia of scalp, S... ORPHA:251393
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Scoliosis, Camptodactyly of finger, Carious teeth, Sparse hair, Kyphosis, Joint contracture of th... ORPHA:1883
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Generalized microdontia, Taurodontia OMIM:104530
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Carious teeth, Abnormality of dental morphology, Mandibular prognathia, Recurrent fr... ORPHA:2785
Mosaic Trisomy 20
Scoliosis, Depigmentation/hyperpigmentation of skin, Kyphosis, Craniofacial asymmetry, Hypopigmen... ORPHA:1724
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis, Abnormality of the dentition, Hypoplasia of the maxilla ORPHA:2776
Geroderma Osteodysplasticum
Osteoporosis, Wormian bones, Platyspondyly, Biconcave vertebral bodies, Beaking of vertebral bodi... OMIM:231070
Neuroectodermal Melanolysosomal Disease
Tremor, Hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, Optic... ORPHA:33445
Mandibuloacral Dysplasia With Type B Lipodystrophy
Wormian bones, Narrow mouth, Hypoplasia of teeth, Dental crowding, High palate, Micrognathia, Ost... OMIM:608612
Lujan-Fryns Syndrome
Scoliosis, Camptodactyly of finger, Short philtrum, Dental crowding, Joint hyperflexibility, Abno... ORPHA:776
Albers-Schönberg Osteopetrosis
Genu valgum, Carious teeth, Osteomyelitis, Recurrent fractures, Abnormality of the dentition, Bon... ORPHA:53
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Abnormal heart valve morphology, Pleural effusion, Pericardial effusion,... ORPHA:36412
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu... ORPHA:66637
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Carious teeth, Anonychia, Oral mucosal blisters, Nail dystrophy ORPHA:79406
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of skin pigmentation, Carious teeth, Anonychia, Abnormality of the subungual region, ... ORPHA:79411
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Absent eyelashes, Sparse eyelashes, Anonychia, Conductive hearing impairment, Atresia of the exte... OMIM:106260
20P12.3 Microdeletion Syndrome
Long philtrum, Thickened helices, Narrow mouth, Wide nasal bridge, Malar flattening, Microtia, Hy... ORPHA:261295
Sick Sinus Syndrome 2
Aortic regurgitation, Atrial fibrillation, Sick sinus syndrome, Ventricular fibrillation, Left ve... OMIM:163800
Faciodigitogenital Syndrome, Autosomal Recessive
Hyperextensible hand joints, Narrow palate, Short nose, Deep philtrum, Camptodactyly, Widow's pea... OMIM:227330
Timothy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Prolonged QT interval, Patent ... OMIM:601005
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Lambdoidal craniosynostosis, Sagittal craniosynostos... OMIM:614188
Otopalatodigital Syndrome Type 2
Scoliosis, Camptodactyly of finger, Oligodontia, Tarsal synostosis, Narrow mouth, Short nose, Elb... ORPHA:90652
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Craniosynostosis, Hypoplasia of the maxilla OMIM:608432
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Carious teeth, Extramedullary hematopoiesis, Mandibular prognathia, Recurrent fractu... OMIM:259710
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
Camptodactyly of finger, Protruding ear, Patchy alopecia, Multiple cafe-au-lait spots, High palat... ORPHA:85279
Kniest Dysplasia
Platyspondyly, Arthropathy, Enlarged joints, Flexion contracture of finger, Coronal cleft vertebr... ORPHA:485
Mulibrey Nanism
Myocardial fibrosis, Hydrops fetalis, Growth delay, Hepatomegaly, Congestive heart failure, Cardi... OMIM:253250
Trichorhinophalangeal Syndrome, Type I
Scoliosis, Carious teeth, Narrow palate, Accelerated bone age after puberty, Leukonychia, Ivory e... OMIM:190350
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Intrauterine growth retardation, Bradycardia, Hy... OMIM:618775
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Drooling, Mandibular prognathia, Wide mouth, EEG... ORPHA:411515
Congenital Enterovirus Infection
Polyhydramnios, Hydrops fetalis, Hypotension, Pleural effusion, Pericardial effusion, Fetal ascit... ORPHA:292
Spondylocostal Dysostosis 5
Scoliosis, Low back pain, Hemivertebrae, Vertebral fusion, Short neck, Butterfly vertebrae OMIM:122600
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Scoliosis, Carious teeth, Abnormality of retinal pigmentation, Heterochromia iridis, Joint hyperf... ORPHA:1390
Angelman Syndrome
Scoliosis, Macroglossia, Drooling, Mandibular prognathia, Wide mouth, Fair hair, Protruding tongu... OMIM:105830
Cohen Syndrome
Scoliosis, Abnormality of skin pigmentation, Open mouth, Aplasia/Hypoplasia of the tongue, Neutro... ORPHA:193
Spondylospinal Thoracic Dysostosis
Arthrogryposis multiplex congenita, Multiple pterygia, Micrognathia, Hypoplasia of the maxilla OMIM:601809
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Platyspondyly, Carious teeth, Maternal diabetes, Abnormal vertebral morphology, Delayed ossificat... ORPHA:93346
Nance-Horan Syndrome
Mulberry molar, Macrotia, Diastema, Screwdriver-shaped incisors, Supernumerary maxillary incisor OMIM:302350
Piebaldism
Long philtrum, Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Aganglionic megacol... ORPHA:2884
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Short nose, Absent tragus, Overfolded helix, Large earlobe, Conduct... ORPHA:79113
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Dilated cardiomyopathy, Arrhythmia, Ventricular septal defect, Pericardial ... ORPHA:26793
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Low anterior hairline, Oligodontia, Short neck, Sparse hair, Abnormal form of the vert... ORPHA:1787
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Vertebral segmentation defect, Sacral dimple OMIM:618845
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Reticular hyperpigmentation, Premature loss of teeth, Fragile nails OMIM:161000
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Abnormality of the antihelix, Conductive hearing impairment, Supernumerary tooth, ... ORPHA:3145
Marshall Syndrome
Long philtrum, Platyspondyly, Absent frontal sinuses, Thick lower lip vermilion, Short nose, Pier... OMIM:154780
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular systolic dysfunction, Tricuspid regurgitation, Hepatomeg... OMIM:619167
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Camptodactyly of finger, Abnormal dental enamel morphology, Abnormal eyebrow morphology, Taurodon... ORPHA:3220
Cranioectodermal Dysplasia
Osteoporosis, Abnormal dental enamel morphology, Craniosynostosis, Sparse hair, Taurodontia, Join... ORPHA:1515
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Agenesis of lateral incisor, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... OMIM:313500
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, Wide nasal b... OMIM:193510
Wildervanck Syndrome
Low posterior hairline, Pseudopapilledema, Facial palsy, Short neck, Fused cervical vertebrae, Co... ORPHA:3456
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Carious teeth, Anonychia, Oral mucosal blisters, Nail dystrophy ORPHA:79405
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, Aganglionic megacolon,... ORPHA:895
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Narrow mouth, Microretrognathia, Low-set, posteriorly rotated ears, Conductive... ORPHA:1307
Cockayne Syndrome Type 1
Enamel hypoplasia, Scoliosis, Delayed eruption of primary teeth, Tremor, Pigmentary retinopathy, ... ORPHA:90321
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Thick vermilion border, Optic atrophy, Micrognathia, Fused cervical... ORPHA:530983
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Incisor macrodontia, Abnormality of primary teeth, Tented upper lip vermilion, Wide nasal bridge,... ORPHA:438216
Gaucher Disease Type 1
Pericardial effusion, Growth delay, Pedal edema, Hepatomegaly, Delayed puberty, Ascites, Splenome... ORPHA:77259
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Scoliosis, Oligodontia, Hypoplasia of teeth, Narrow mouth, Downturned corners of mouth, Joint lax... ORPHA:391408
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Small earlobe, Oligodontia, Agenesis of central incisor, Short nose, Small nail, Abnormality of c... ORPHA:364577
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Tricuspid regurgitation, Congestive heart failure, Bicuspid aortic valve,... OMIM:613426
Cerebellar-Facial-Dental Syndrome
Scoliosis, Long philtrum, Short neck, Sparse eyebrow, Taurodontia, Sparse hair, Macrodontia of pe... ORPHA:444072
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Scoliosis, Oligodontia, Short mandibular rami, Joint laxity, Prominent frontal... OMIM:170390
Danon Disease
EMG: myopathic abnormalities, Myocardial fibrosis, Arrhythmia, Wolff-Parkinson-White syndrome, Ge... OMIM:300257
Marshall Syndrome
Long philtrum, Genu valgum, Short nose, Thick lower lip vermilion, Sparse hair, Sparse eyelashes,... ORPHA:560
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Prolonged QTc interval ORPHA:231111
Tooth Agenesis, Selective, 4
Sparse eyebrow, Sparse hair, Short eyelashes, Tooth agenesis, Peg-shaped maxillary lateral incisors OMIM:150400
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Orofaciodigital Syndrome Type 2
Hypoplasia of teeth, Tongue nodules, Natal tooth, Hamartoma of tongue, High palate, Micrognathia,... ORPHA:2751
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, Hypopigmentation of hair, White... ORPHA:897
Combined Oxidative Phosphorylation Deficiency 33
Oligohydramnios, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Myopathy, Cardiomyopathy OMIM:617713
Crouzon Disease
Narrow palate, Narrow internal auditory canal, Hypoplasia of the maxilla, Conductive hearing impa... ORPHA:207
Robinow Syndrome
Scoliosis, Dental crowding, Hemivertebrae, Oral cleft, Triangular mouth, Micrognathia, Long philt... ORPHA:97360
Nager Syndrome
Aplasia/Hypoplasia of the eyebrow, Low-set, posteriorly rotated ears, Abnormal palate morphology,... ORPHA:245
Hypophosphatasia, Adult
Carious teeth, Chondrocalcinosis, Rickets, Premature loss of permanent teeth, Recurrent fractures... OMIM:146300
Familial Atrial Myxoma
Pedal edema, Cardiac myxoma, Tricuspid regurgitation, Pulmonic valve myxoma, Congestive heart fai... ORPHA:615
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Wildervanck Syndrome
Pseudopapilledema, Hearing impairment, Fused cervical vertebrae OMIM:314600
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
3Mc Syndrome 2
Joint hypermobility, Prominence of the premaxilla, Craniosynostosis, Highly arched eyebrow, Radio... OMIM:265050
Pallister W Syndrome
Cubitus valgus, Agenesis of central incisor, Agenesis of maxillary central incisor, Camptodactyly... OMIM:311450
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal form of the vertebral bodies, Hypoplasia of the maxilla, Conductive hearing impairment, ... ORPHA:93262
Duane Retraction Syndrome
Central heterochromia, Irregular hyperpigmentation, Short neck, Low posterior hairline, Narrow in... ORPHA:233
Dyskeratosis Congenita
Scoliosis, Carious teeth, Premature graying of hair, Anemia, Aplastic/hypoplastic toenail, Hypopl... ORPHA:1775
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Koolen-De Vries Syndrome
Scoliosis, Joint hypermobility, Iris hypopigmentation, Abnormality of hair texture, Narrow palate... OMIM:610443
Cardioacrofacial Dysplasia 1
Genu valgum, Short philtrum, Diastema, Nail dysplasia, Conical tooth, Accessory oral frenulum, Hy... OMIM:619142
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Macroglossia, Kyphosis, Achilles tendon contracture, Vertebral fusion OMIM:607155
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:618652
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed closure of the anterior fontanelle, Metatarsal osteolysis, Hirsutism, Interphalangeal joi... OMIM:259600
Muenke Syndrome
Hypermelanotic macule, Hypopigmentation of hair, Tarsal synostosis, Hypopigmented skin patches, S... ORPHA:53271
Dysostosis, Stanescu Type
Scoliosis, Wormian bones, Macroglossia, Carious teeth, Abnormal dental enamel morphology, Hyperlo... ORPHA:1798
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling, Calcaneal epiphyseal stippling, Hypoplasia of the maxilla, Atlantoaxial ins... ORPHA:79345
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Short philtrum, Iris hypopigmentation, Freckling, Hypopigmentation of ... ORPHA:3214
Ohdo Syndrome
Long philtrum, Thin vermilion border, Hypoplasia of teeth, Narrow mouth, Joint laxity, Short nose... OMIM:249620
Pde4D Haploinsufficiency Syndrome
Accelerated skeletal maturation, Long philtrum, Abnormal dental enamel morphology, Short philtrum... ORPHA:439822
Monosomy 18P
Carious teeth, Short philtrum, Tooth malposition, Short neck, Downturned corners of mouth, Abnorm... ORPHA:1598
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Short nose, Hypoplasia of teeth, Macrotia, Trichorrhexis nodosa, Sparse hair, Woolly ... OMIM:234050
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Arthrogryposis multiplex congenita, Anterior clefting of vertebral bodies, Narrow mout... OMIM:265000
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Endocardial fibroelastosis, Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlarg... OMIM:619313
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Ulnar radial head dislocation, Hypoplasia of the maxilla OMIM:264270
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Long philtrum, Radioulnar synostosis, Elbow dislocation, Conductive hearing impairment, Shoulder ... OMIM:171480
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Macrotia, Hypoplasia of the maxilla ORPHA:93950
Flynn-Aird Syndrome
Scoliosis, Progressive sensorineural hearing impairment, Carious teeth, Kyphosis, Joint stiffness... ORPHA:2047
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Abnormality of the nail, Generalized hypopigmentation of hair, Abnor... ORPHA:238468
Distal Trisomy 18Q
Camptodactyly of finger, Carious teeth, Short neck, Short nose, Abnormality of dental morphology,... ORPHA:1716
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Elevated pulmonary artery pressure, Pleural effusion, Pericardial effu... ORPHA:199241
Coffin-Lowry Syndrome
Scoliosis, Narrow palate, Open mouth, Sensorineural hearing impairment, High palate, Hypoplasia o... ORPHA:192
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, Aganglionic megacolon, Sensorineu... OMIM:613265
Gaucher Disease Type 3
Hydrops fetalis, Abnormal heart valve morphology, Mitral valve calcification, Pericardial effusio... ORPHA:77261
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Scoliosis, Biconcave vertebral bodies, Wide mouth, Synophrys, Os odontoideum, Irregular dentition... OMIM:619260
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphopenia, Recurrent sinusitis, Abnormally low T cell recepto... OMIM:618986
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Tremor, Iris hypopigmentation, Hypopigmentation of hai... OMIM:214500
Alopecia Antibody Deficiency
Abnormality of dental color, Sparse hair, Conductive hearing impairment, Abnormal eyelash morphol... ORPHA:1006
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Congestive heart failure, Cardiomegaly, Atrial flutter OMIM:300886
Ataxia-Telangiectasia
Tremor, Hypopigmentation of hair, Premature graying of hair, Lymphopenia, Type II diabetes mellit... ORPHA:100
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Delayed eruption of teeth, Low anterior hairline, Abnormality of the mouth, Low pos... ORPHA:73272
Laron Syndrome
Delayed eruption of teeth, Abnormality of the elbow, Hypoglycemia, Tooth agenesis, Microdontia, M... ORPHA:633
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Hemivertebrae, High palate, Short neck, Low pos... OMIM:213980
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Long philtrum, Highly arched eyebrow, Absent eyelashes, Microretrognathia, Abnormality of the pin... ORPHA:228396
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Wormian bones, Acroosteolysis of distal p... OMIM:248370
Brittle Cornea Syndrome 1
Scoliosis, Joint laxity, Congenital hip dislocation, Red hair, Spondylolisthesis, Hearing impairm... OMIM:229200
Congenital Toxoplasmosis
Intrauterine growth retardation, Ascites, Cardiomegaly, Hepatomegaly ORPHA:858
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Irregular hyperpigmentation, Abnormal eyebrow morphology, Heterochromia... ORPHA:2885
Orofacial Cleft 15
Agenesis of lateral incisor, Sparse eyebrow, Sparse eyelashes, High anterior hairline, Protruding... OMIM:616788
Myhre Syndrome
Platyspondyly, Short philtrum, Narrow mouth, Sparse hair, Mandibular prognathia, Camptodactyly, E... OMIM:139210
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Cockayne Syndrome A
Abnormality of skin pigmentation, Delayed eruption of primary teeth, Carious teeth, Tremor, Hypop... OMIM:216400
48,Xxyy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Scoliosis... ORPHA:10
Microcephaly-Capillary Malformation Syndrome
Small nail, Short nose, Abnormal hair whorl, Hearing impairment, Cleft palate, Optic atrophy, Hyp... OMIM:614261
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormality of the tongue, Carious teeth, Osteolysis, Ankylosis, Sparse hair, Abnormality of the ... ORPHA:659
Juvenile Idiopathic Arthritis
Hepatomegaly, Pericardial effusion, Joint swelling, Splenomegaly ORPHA:92
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Intention tremor, Kyphoscoliosis, Retrognathi... ORPHA:466722
Pediatric Systemic Lupus Erythematosus
Pleural effusion, Pericardial effusion, Edema, Ascites, Myositis, Raynaud phenomenon ORPHA:93552
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Pericardial effusion ORPHA:411703
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Macrotia, Mandibular prognathia, Diastema, Smooth philtrum, Thin upper lip vermilion, Furrowed to... OMIM:300534
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Lelis Syndrome
Vitiligo, Carious teeth, Abnormality of the mouth, Yellow nails, Sparse hair, Mandibular prognath... ORPHA:140936
Neuraminidase Deficiency
Hydrops fetalis, Facial edema, Hepatomegaly, Splenomegaly, Cardiomegaly, Short stature, Skeletal ... OMIM:256550
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Enamel hypoplasia, Carious teeth, Scarring alopecia of scalp, Nail dysplasia, Anemia, Nail dystrophy OMIM:226670
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Conductive hearing impairment, Proximal/middle symphalangism of 5th finger, Lon... OMIM:184460
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Pulmonary arterial hypertension, Tricuspid regurgitation, Cardiomegaly, ... OMIM:619051
Cockayne Syndrome B
Abnormality of skin pigmentation, Carious teeth, Hypoplasia of teeth, Mandibular prognathia, Sens... OMIM:133540
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Low-set, posteriorly rotated ears, Thrombocytopenia, Aplasia/Hypoplasia of the patella... ORPHA:3320
Simpson-Golabi-Behmel Syndrome
Scoliosis, Accelerated skeletal maturation, Congenital hip dislocation, Mandibular prognathia, Ab... ORPHA:373
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Scoliosis, Iris hypopigmentation, Tremor, Hypopigmentation of hair, Drooling, Limitation of movem... ORPHA:98794
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Hepatomegaly, Congestive heart failure, Ascites, Cardiomegaly, Splenomegaly OMIM:269920
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Hypoplasia of the maxilla, Concave nail, Abnormal oral mucosa morphology, Conical... OMIM:305100
Oslam Syndrome
Abnormality of neutrophils, Carious teeth, Radioulnar synostosis, Increased mean corpuscular volume ORPHA:2760
Carnitine Deficiency, Systemic Primary
Reduced muscle carnitine level, Endocardial fibroelastosis, Hepatomegaly, Congestive heart failur... OMIM:212140
Trisomy 10P
Thin vermilion border, Flexion contracture of thumb, Abnormal hip joint morphology, Short nose, L... ORPHA:171929
Dyskeratosis Congenita, Autosomal Dominant 1
Oral leukoplakia, Osteoporosis, Carious teeth, Nail pits, Reticular hyperpigmentation, Premature ... OMIM:127550
Treacher-Collins Syndrome
Open bite, Abnormal dental enamel morphology, Narrow mouth, Narrow internal auditory canal, High ... ORPHA:861
Cardiomyopathy, Familial Hypertrophic 27
Hydrops fetalis, Tricuspid regurgitation, Prolonged QT interval, Cardiomegaly, Mitral regurgitation OMIM:618052
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Arthrogryposis multiplex congenita, Edema, Camptodactyly OMIM:617822
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Crowded maxillary incisors, Mandibular prognathia, Hypoplasia of the maxilla ORPHA:397973
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, EEG with focal epileptiform discharges, Mandibul... ORPHA:98795
Carpenter Syndrome 1
Scoliosis, Lambdoidal craniosynostosis, Camptodactyly, Sensorineural hearing impairment, Spina bi... OMIM:201000
Non-Specific Syndromic Intellectual Disability
Scoliosis, Long philtrum, Thin vermilion border, Joint hypermobility, Highly arched eyebrow, Narr... ORPHA:528084
Mucopolysaccharidosis, Type Iva
Scoliosis, Osteoporosis, Carious teeth, Genu valgum, Hyperlordosis, Joint laxity, Platyspondyly, ... OMIM:253000
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Enlarged kidney, Subconjunctival hemorrhage, Pleural effusion, Pericardial e... ORPHA:464329
Blepharo-Cheilo-Odontic Syndrome
Carious teeth, Abnormal hair quantity, Conductive hearing impairment, Bilateral cleft lip and pal... ORPHA:1997
Aarskog-Scott Syndrome
Scoliosis, Joint laxity, Short nose, Large earlobe, Widow's peak, Curved linear dimple below the ... OMIM:305400
Mandibuloacral Dysplasia
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:2457
Hermansky-Pudlak Syndrome 2
Carious teeth, Albinism, Neutropenia, Acetabular dysplasia, Generalized hypopigmentation, Long ph... OMIM:608233
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Short philtrum, Joint laxity, Open mouth, Dental crowding, Abnormally folded helix, Deep philtrum... OMIM:309520
Saethre-Chotzen Syndrome
Open bite, Scoliosis, Hyperlordosis, Craniosynostosis, Narrow palate, Abnormality of the antiheli... ORPHA:794
Acute Interstitial Pneumonia
Pleural effusion, Pericardial effusion, Peripheral edema, Hypertension ORPHA:79126
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Low anterior hairline, Tremor, Highly arched eyebrow, Hirsutism, Hypoglycemia, Wide nasal bridge,... OMIM:220111
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Van Maldergem Syndrome 2
Scoliosis, Joint laxity, Downturned corners of mouth, Conductive hearing impairment, Atresia of t... OMIM:615546
Lymphoproliferative Syndrome 1
Hepatomegaly, Pleural effusion, Pericardial effusion, Splenomegaly OMIM:613011
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Sparse hair, Sparse eyelashes, Absent pubic hair, Absent axillary hair, Anodontia, Hypoplastic ni... OMIM:211370
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Submucous cleft hard palate, Hypertrichosis, Cafe-au-lait spot, Spina bifida occulta, Retrognathi... OMIM:619227
Caudal Regression Sequence
Scoliosis, Maternal diabetes, Oral cleft, Joint stiffness, Abnormal vertebral segmentation and fu... ORPHA:3027
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Macrotia, Low-set, posteriorly rotated ears, Optic nerve hypopl... OMIM:618156
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Frontal open bite, Delayed closure of the anterior fontanelle, Joint laxity, Recurrent mandibular... OMIM:225410
Mohr Syndrome
Scoliosis, Wormian bones, Accessory oral frenulum, Agenesis of central incisor, Tongue nodules, C... OMIM:252100
Crisponi/Cold-Induced Sweating Syndrome 1
Long philtrum, Carious teeth, Limited elbow extension, Short neck, Narrow mouth, Camptodactyly, T... OMIM:272430
Basal Cell Nevus Syndrome
Scoliosis, Irregular ossification of hand bones, Odontogenic keratocysts of the jaw, Mandibular p... OMIM:109400
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short nose, Flexion contracture, Hirsutism, Neutropenia, Hypoglycemia, Wide nasal bridge, Hip dis... OMIM:618005
Van Maldergem Syndrome 1
Scoliosis, Joint laxity, Downturned corners of mouth, Conductive hearing impairment, Atresia of t... OMIM:601390
Q Fever
Endocarditis, Pericarditis, Abnormal heart valve morphology, Pleural effusion, Pericardial effusi... ORPHA:781
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Moderate hearing impairment, Hypoplastic toenails, Thin upper lip vermilion, Cervical C2/C3 verte... ORPHA:370010
Axenfeld-Rieger Syndrome, Type 2
Short philtrum, Mandibular prognathia, Everted lower lip vermilion, Hypodontia, Wide nasal bridge... OMIM:601499
Poems Syndrome
Pleural effusion, Pericardial effusion, Visceromegaly, Edema, Ascites, Pulmonary arterial hyperte... ORPHA:2905
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel... OMIM:618386
Marshall-Smith Syndrome
Scoliosis, Accelerated skeletal maturation, Prominence of the premaxilla, Short philtrum, Short n... OMIM:602535
Doors Syndrome
Narrow palate, Open mouth, Downturned corners of mouth, Atresia of the external auditory canal, M... ORPHA:79500
Aymé-Gripp Syndrome
Pericarditis, Pericardial effusion, Camptodactyly, Patent ductus arteriosus, Postnatal growth ret... ORPHA:1272
Cartilage-Hair Hypoplasia
Scoliosis, Joint hypermobility, Limited elbow extension, Sparse hair, Sparse eyelashes, Sparse fa... OMIM:250250
Rubinstein-Taybi Syndrome 1
Enamel hypoplasia, Joint hypermobility, Scoliosis, Narrow palate, Narrow mouth, Joint laxity, Den... OMIM:180849
Hypertrichotic Osteochondrodysplasia, Cantu Type
Abnormal heart valve morphology, Patent ductus arteriosus, Umbilical hernia, Cardiomegaly, Hypert... ORPHA:1517
Mucopolysaccharidosis Type 4
Scoliosis, Hyperlordosis, Carious teeth, Abnormal dental enamel morphology, Genu valgum, Platyspo... ORPHA:582
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Oligodontia, Craniosynostosis, Limitation of knee mobility, In... ORPHA:1826
Axenfeld-Rieger Syndrome
Everted lower lip vermilion, Wide nasal bridge, Hypodontia, Hearing impairment, Microdontia, Hypo... ORPHA:782
Keipert Syndrome
Tented upper lip vermilion, Sensorineural hearing impairment, Exaggerated cupid's bow, Aplastic/h... ORPHA:2662
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Mucopolysaccharidosis, Type Ivb
Scoliosis, Osteoporosis, Carious teeth, Genu valgum, Hyperlordosis, Joint laxity, Platyspondyly, ... OMIM:253010
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of retinal pigmentation, ... ORPHA:1873
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Cardiogenic ... ORPHA:75565
Nasopalpebral Lipoma-Coloboma Syndrome
Widow's peak, Abnormality of the pinna, Wide nasal bridge, Cupped ear, Hypoplasia of the maxilla OMIM:167730
Acrocephalopolysyndactyly Type Iii
Craniosynostosis, Dental crowding, Mandibular prognathia, Abnormality of the pinna, Short neck, M... OMIM:101120
Gorlin-Chaudhry-Moss Syndrome
Low anterior hairline, Oligodontia, Conductive hearing impairment, Abnormality of the dentition, ... ORPHA:2095
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Red hair, Delayed skeletal maturation, Hypopigmentation ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Red hair, Delayed skeletal maturation, Hypopigmentation ... ORPHA:71526
Craniometadiaphyseal Dysplasia
Scoliosis, Wormian bones, Carious teeth, Genu valgum, Cubitus valgus, Dental crowding, Mandibular... OMIM:269300
Acrodysostosis 1 With Or Without Hormone Resistance
Scoliosis, Delayed eruption of teeth, Accelerated skeletal maturation, Epiphyseal stippling, Disl... OMIM:101800
Aicardi Syndrome
Scoliosis, Abnormality of skin pigmentation, Short philtrum, Prominence of the premaxilla, Abnorm... ORPHA:50
Hemochromatosis, Type 1
Arrhythmia, Pleural effusion, Hepatomegaly, Congestive heart failure, Ascites, Cardiomegaly, Sple... OMIM:235200
Waardenburg Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, Abnormality of the mouth, Abnormal ey... ORPHA:3440
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor, Aplasia of the eccrine sweat glands, Sparse hair OMIM:300291
Hemifacial Microsomia
Vertebral hypoplasia, Anotia, Conductive hearing impairment, Atresia of the external auditory can... OMIM:164210
Primary Intestinal Lymphangiectasia
Hydrops fetalis, Lymphedema, Pleural effusion, Pericardial effusion, Pedal edema, Chylous ascites ORPHA:90362
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Congenital Disorder Of Glycosylation, Type Ia
Pericardial effusion, Flexion contracture, Hepatomegaly, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:212065
Classical-Like Ehlers-Danlos Syndrome Type 2
Mitral valve prolapse, Pericardial effusion, Umbilical hernia ORPHA:536532
Familial Aortic Dissection
Abnormal left ventricular function, Patent ductus arteriosus, Cardiomegaly, Aortic regurgitation ORPHA:229
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Long philtrum, Thin vermilion border, Joint hypermobility, Thoracic kyphoscoliosis, Overfolded he... ORPHA:481152
Meier-Gorlin Syndrome 4
Narrow mouth, Thick lower lip vermilion, Breast hypoplasia, Genu recurvatum, Patellar aplasia, Mi... OMIM:613804
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR inte... OMIM:261740
Wolf-Hirschhorn Syndrome
Scoliosis, Downturned corners of mouth, Oral cleft, Sensorineural hearing impairment, Micrognathi... OMIM:194190
Epidermolysis Bullosa, Junctional, Herlitz Type
Enamel hypoplasia, Carious teeth, Nail dysplasia, Nail dystrophy OMIM:226700
Mohr-Tranebjaerg Syndrome
Tremor, Ankle clonus, Absent brainstem auditory responses, Sensorineural hearing impairment, Abno... ORPHA:52368
Acrofacial Dysostosis, Catania Type
Carious teeth, Short nose, Microretrognathia, Low-set, posteriorly rotated ears, Abnormal palate ... ORPHA:1786
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, Sensorineural hearing impairment, White eyelashes,... OMIM:227010
Paternal Uniparental Disomy Of Chromosome 6
Macroglossia, Oligohydramnios, Ventricular septal defect, Patent ductus arteriosus, Umbilical her... ORPHA:96191
Qazi-Markouizos Syndrome
Dysharmonic bone age, Small nail, Drooling, Hypoplasia of teeth, Open mouth, Broad philtrum, Dela... ORPHA:3010
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Platyspondyly, Carious teeth, Scoliosis, Recurrent fractures, Mixed hearing impairm... OMIM:126550
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Joint swelling, Stomatitis, Fused cervical vertebrae, Splenomegaly, Neutrophilia, Ost... OMIM:612852
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Abnormal dental enamel morphology, Coarse hair, Generalized hyperpigmentation, Micrognathia, Non-... ORPHA:1071
Goldberg-Shprintzen Syndrome
Highly arched eyebrow, Short philtrum, Sparse hair, Everted lower lip vermilion, Aganglionic mega... OMIM:609460
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Cleidocranial Dysplasia
Open bite, Scoliosis, Carious teeth, Abnormal dental enamel morphology, Wormian bones, Mandibular... ORPHA:1452
Crouzon Syndrome
Lambdoidal craniosynostosis, Dental crowding, Conductive hearing impairment, Mandibular prognathi... OMIM:123500
Johnson Neuroectodermal Syndrome
Carious teeth, Sparse hair, Absent eyelashes, Conductive hearing impairment, Atresia of the exter... OMIM:147770
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Trichodermodysplasia-Dental Alterations Syndrome
Scoliosis, Delayed eruption of teeth, Hyperlordosis, Abnormality of dental morphology, Tooth agen... ORPHA:3353
Taurodontism
Taurodontia OMIM:272700
Apert Syndrome