Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
chordin
Synonyms:
Chd

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 Chrd 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, Malar flattening, Cleft palate OMIM:611867
Treacher-Collins Syndrome
Conductive hearing impairment, Hypoplasia of the thymus, Micrognathia, Thyroid hypoplasia, Tooth ... ORPHA:861
Emanuel Syndrome
Truncus arteriosus, Micrognathia, Recurrent sinusitis, Cleft palate, Hearing impairment, Sacral d... OMIM:609029
Emanuel Syndrome
Truncus arteriosus, Ectopic anus, Delayed eruption of teeth, Multiple joint contractures, Microgn... ORPHA:96170
Diabetic Embryopathy
Spinal dysraphism, Micrognathia, Abnormality of the pulmonary artery, Cleft palate, Hearing impai... ORPHA:1926
Pierre Robin Syndrome
Pierre-Robin sequence, Micrognathia, Cor pulmonale, Cleft palate, Glossoptosis OMIM:261800
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Double outlet right ventricle, Webbed neck, Narrow palate, T lymphocyto... OMIM:618223
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Webbed neck, Truncus arteriosus, Ventricular septal defect, Micrognat... ORPHA:2516
Isotretinoin-Like Syndrome
Micrognathia, Abnormal aortic arch morphology, Bilateral sensorineural hearing impairment, Cleft ... ORPHA:2306
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Webbed neck, Truncus arteriosus, Ventricular septal defect, Hydranencephaly, Cleft palate OMIM:601355
Johnson Neuroectodermal Syndrome
Retrognathia, Patent ductus arteriosus, Conductive hearing impairment, Ventricular septal defect,... OMIM:147770
Fg Syndrome Type 1
Broad neck, Abnormal large intestine morphology, Micrognathia, Optic nerve hypoplasia, Small pitu... ORPHA:93932
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia ... ORPHA:3426
Holoprosencephaly-Postaxial Polydactyly Syndrome
Polyhydramnios, Abnormal cardiac septum morphology, Micrognathia, Thyroid hypoplasia, Holoprosenc... ORPHA:2166
Branchiootorenal Syndrome 1
Conductive hearing impairment, Hypoplasia of the cochlea, Microdontia, Bifid uvula, Cholesteatoma... OMIM:113650
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip subluxation, Subvalvular aortic stenosis, Flexion contracture, Ischemic stroke, Cleft soft pa... OMIM:619503
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Micrognathia, Pierre-Robin sequence OMIM:172880
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Thin upper lip vermilion, Short neck, Low-set, posteriorly rotated ears, Cleft palate ORPHA:2015
22Q11.2 Deletion Syndrome
Meningocele, Hypothyroidism, Polyhydramnios, Conductive hearing impairment, Hypoplasia of the thy... ORPHA:567
Trisomy 13
Abnormal antihelix morphology, Optic atrophy, Median cleft lip, Abnormal rib morphology, Cleft pa... ORPHA:3378
Mullegama-Klein-Martinez Syndrome
Sensorineural hearing impairment, Long philtrum, Abnormal cardiac septum morphology, Microtia, Mi... OMIM:301022
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Polyhydramnios, Asplenia, Micrognathia, Butterfly vertebrae, Poste... OMIM:265380
Pallister-Hall Syndrome
Atrioventricular canal defect, Precocious puberty, Gonadotropin deficiency, Bifid uvula, Hip disl... ORPHA:672
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Encephalocele, Ventricular septal defect, Microtia, Micrognathia, ... ORPHA:398156
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Cleft upper lip, Flexion contracture, Vertebral hypoplasia, Mild intrauterine growth retardation,... OMIM:308050
Genitopalatocardiac Syndrome
Double outlet right ventricle, Cleft upper lip, Ventricular septal defect, Micrognathia, Right ao... OMIM:231060
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, High palate, Dermatographic urticaria, Microtia, Micrognathia, Sco... OMIM:248910
Skraban-Deardorff Syndrome
Thick upper lip vermilion, Ventricular septal defect, Widely spaced teeth, Micrognathia, Hyperpla... OMIM:617616
Lateral Meningocele Syndrome
Meningocele, Conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia,... OMIM:130720
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os... ORPHA:50815
Mosaic Trisomy 14
Camptodactyly of finger, High palate, Ectopic anus, Microtia, Wide mouth, Micrognathia, Short nec... ORPHA:1703
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Dental malocclusion, Sacral dimple, Mandibular prognathia, High palate, ... ORPHA:1327
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Flexion contracture, Micrognathia, Pleural effusion, Large fleshy ears, Hypertrop... OMIM:616897
Monosomy 22
Retrognathia, High palate, Long philtrum, Hepatosplenomegaly, Hypochromic microcytic anemia, Shor... ORPHA:96123
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Delayed cranial suture closure, Thyroid hypoplasia, Optic nerve hypoplasia, Short neck, Maternal ... ORPHA:226307
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Ventricular septal defect, Optic atrophy, Atrial septal defect, Hypoplasia ... OMIM:614261
Smith-Magenis Syndrome
Mandibular prognathia, Everted upper lip vermilion, Velopharyngeal insufficiency, Abnormality of ... OMIM:182290
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Abnormal antihelix morphology, Camptodactyly of finger, Hypothyroidism, Atrioventricular canal de... ORPHA:3047
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Lower-limb joint contracture, Gastroesophageal reflux, Everted upper lip vermilion, Ventricular s... ORPHA:513456
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Conical tooth, Aplasia of the inner ear, Sensorineural hearing impairment, Microtia, Widely space... ORPHA:90024
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hypothyroidism, Atrioventricular canal defect, Ascending tubular aorta aneurysm, Abnormal autonom... ORPHA:453499
14Q24.1Q24.3 Microdeletion Syndrome
Long philtrum, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Intestinal ma... ORPHA:401935
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Vertebrobasilar dolichoectasia, Macrotia, Mandibular prognathia, Short philtrum, Thyroid hypoplas... ORPHA:521445
Distal Monosomy 17Q
Patent ductus arteriosus, Abnormality of the philtrum, Optic atrophy, Microtia, Abnormal cardiac ... ORPHA:1597
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Microtia, Underdeveloped tragus, Mi... ORPHA:79113
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Retrognathia, Truncus arteriosus, Ventricular septal defect, Pineal cys... OMIM:617516
Mosaic Trisomy 9
Camptodactyly of finger, Polyhydramnios, Asplenia, Micrognathia, Biparietal narrowing, Hip disloc... ORPHA:99776
Isolated Pierre Robin Syndrome
Cleft palate, Micrognathia, Glossoptosis ORPHA:718
Auriculocondylar Syndrome 2
Hypoplastic superior helix, Dental malocclusion, Cleft at the superior portion of the pinna, Mand... OMIM:614669
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Camptodactyly of finger, Hypothyroidism, Ectopic anus, Microtia, Microretrognathia, Delayed puber... ORPHA:2994
Isolated Cleft Lip
Supernumerary maxillary incisor, Non-midline cleft lip, Conductive hearing impairment, Polyhydram... ORPHA:199302
Lateral Meningocele Syndrome
Meningocele, Conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia,... ORPHA:2789
Cleft Palate, Isolated
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion OMIM:119540
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... OMIM:217095
Distal 22Q11.2 Microdeletion Syndrome
Camptodactyly of finger, Truncus arteriosus, Smooth philtrum, Cleft palate, Ventricular septal de... ORPHA:261330
Gm1 Gangliosidosis
Camptodactyly of finger, Encephalomalacia, Optic atrophy, Hepatosplenomegaly, Dysphagia, Gingival... ORPHA:354
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hemifacial Atrophy, Progressive
Dental malocclusion, Horner syndrome, Kyphosis, Delayed eruption of teeth, Microtia, Tongue atrop... OMIM:141300
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Oral synechia, Everted lower lip vermilion, Narrow mouth, Cleft palate ORPHA:2016
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Oral ulcer, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell re... OMIM:602450
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Patent ductus arteriosus, Long philtrum, Microtia, Micrognathia, Hydrocephalus, Radioulnar synost... ORPHA:171839
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Fetal akinesia sequence, Stiff neck, Thoracic sco... OMIM:617022
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Atrioventricular canal defect, Truncus arteriosus, Micrognathia, Abnormal optic disc morphology, ... ORPHA:508498
Cleft Lip With Or Without Cleft Palate
Non-midline cleft lip, Submucous cleft of soft and hard palate, Chronic sinusitis, Median cleft l... ORPHA:1991
Dyssegmental Dysplasia, Silverman-Handmaker Type
Flexion contracture, Encephalocele, Hydrops fetalis, Short ribs, Micrognathia, Increased placenta... ORPHA:1865
Congenital Hypothyroidism
Hypotension, Hypothyroidism, Optic atrophy, Anterior hypopituitarism, Intestinal obstruction, Hea... ORPHA:442
Holoprosencephaly
Abnormal antihelix morphology, Spinal dysraphism, Abnormality of neuronal migration, Optic atroph... ORPHA:2162
Bor Syndrome
Retrognathia, Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Facial palsy, En... ORPHA:107
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricu... ORPHA:860
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hypothyroidism, Conductive hearing impairment, Bifid tongue, Exaggerated median tongue furrow, Bi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hypothyroidism, Conductive hearing impairment, Bifid tongue, Exaggerated median tongue furrow, Bi... ORPHA:352665
Congenital Disorder Of Glycosylation, Type Iig
Conductive hearing impairment, Micrognathia, Butterfly vertebrae, Camptodactyly, Cholesteatoma, S... OMIM:611209
Charge Syndrome
Hypothyroidism, Polyhydramnios, Gonadotropin deficiency, Micrognathia, Secundum atrial septal def... OMIM:214800
Conductive Deafness-Malformed External Ear Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, High palate, Hypogonadism, Micro... ORPHA:3216
X-Linked Mandibulofacial Dysostosis
Conductive hearing impairment, Sensorineural hearing impairment, Branchial anomaly, High palate, ... ORPHA:1131
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Large fleshy ears, Short neck, Peripheral pulmonary artery stenosis, Smooth philtrum, Dysphagia, ... ORPHA:280633
Nuchal Bleb, Familial
Fetal cystic hygroma, Cystic hygroma, Stillbirth OMIM:257350
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Flexion contracture, Hypogonadism, Death in infancy, Abnormality of the amniotic fl... OMIM:608540
Pallister-Hall Syndrome
Precocious puberty, Decreased circulating cortisol level, Hip dislocation, Holoprosencephaly, Cle... OMIM:146510
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Aplasia of the inner ear, Widely spaced teeth, Micrognathia, Microdontia, Peg-shap... OMIM:610706
Acrocraniofacial Dysostosis
Genu valgum, Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the ... ORPHA:949
Classic Multiminicore Myopathy
Mandibular prognathia, High palate, Multiple joint contractures, Muscle fiber atrophy, Generalize... ORPHA:324604
Hypothyroidism Due To Tsh Receptor Mutations
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:90673
Alg3-Cdg
Subcortical cerebral atrophy, High palate, Abnormal uvula morphology, Abnormal cerebral morpholog... ORPHA:79321
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Conductive hearing impairment, Delayed eruption of teeth, Thyroid lymphangiectasia, Pericardial e... OMIM:235510
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed cranial suture closure, Macroorchidism, Increased circulating prolactin concentration, In... ORPHA:90674
Trisomy 1Q
Camptodactyly of finger, Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis, Ventricular s... ORPHA:261344
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Hydrops fetalis, Advanced ossification of carpal bones, Short ribs, Micrognathia,... OMIM:215045
Digeorge Syndrome
Hypothyroidism, Hypoplasia of the thymus, Patellar dislocation, Truncus arteriosus, Micrognathia,... OMIM:188400
Viss Syndrome
Aortic tortuosity, Hypothyroidism, Polyhydramnios, Ascending tubular aorta aneurysm, Bifid tongue... OMIM:619472
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Global brain atrophy, Truncus arteriosus, Cleft maxillary alveolar... ORPHA:508488
19P13.3 Microduplication Syndrome
Hip subluxation, Gastroesophageal reflux, Pulmonary arterial hypertension, Precocious puberty, Ve... ORPHA:447980
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Polyhydramnios, Delayed closure of the anterior fontanelle, Conductiv... OMIM:300373
Trisomy 8P
Abnormal atrioventricular connection, Conductive hearing impairment, Multiple joint contractures,... ORPHA:264450
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Duodenal atresia, Aplasia of the thymus ORPHA:3004
Branchiootic Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Lip pit, Facial palsy, Micrognat... ORPHA:52429
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Knee flexion contracture, Gastroesophageal reflux, Mandibular prognathia, Sensorineural hearing i... ORPHA:435938
Fibrochondrogenesis 1
Camptodactyly, Short neck, Cleft palate, Widely patent coronal suture, Patent foramen ovale, Shor... OMIM:228520
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the corpus callosum, Long philtrum, Microtia, Micrognathia, Vertebral segme... ORPHA:1988
Distal Tetrasomy 15Q
Flexion contracture, Micrognathia, Camptodactyly, Cupped ear, Hydrocephalus, Atrial septal defect... ORPHA:314588
Branchiootic Syndrome 1
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... OMIM:602588
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Sialidosis Type 2
Pedal edema, Splenomegaly, Flexion contracture, Hydrops fetalis, Kyphosis, Skeletal muscle atroph... ORPHA:87876
Fryns Syndrome
Non-midline cleft lip, Polyhydramnios, Cerebral cortical atrophy, Ectopic anus, Abnormal cardiac ... ORPHA:2059
3-Hydroxyisobutyric Aciduria
Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus... ORPHA:939
Monosomy 18Q
Hypothyroidism, Bilateral conductive hearing impairment, Secundum atrial septal defect, Biparieta... ORPHA:1600
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Genetic Transient Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Prolonged neonatal jaundice, Abno... ORPHA:226316
Axial Mesodermal Dysplasia Spectrum
Cerebral cortical atrophy, Micrognathia, Abnormal intestine morphology, Short neck, Abnormal rib ... ORPHA:1834
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Optic atrophy, Microtia, Hydrocephalus, Macroglossia, Short neck, Intrauterine ... ORPHA:1914
Multiple Pterygium Syndrome, Escobar Variant
Neck pterygia, Conductive hearing impairment, Flexion contracture, Multiple joint contractures, A... OMIM:265000
Velocardiofacial Syndrome
Retrognathia, Pierre-Robin sequence, Ventricular septal defect, Abnormality of the ear, Interrupt... OMIM:192430
Catifa Syndrome
Mild microcephaly, Long philtrum, Delayed eruption of teeth, Microtia, Camptodactyly, Cleft lip, ... OMIM:618761
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Patent foramen ovale, Ventricular septal defect, Death in infancy, Micrognathia, Jaundice, Nephro... OMIM:208085
Au-Kline Syndrome
Bifid tongue, Bifid uvula, Supernumerary nipple, Prominent metopic ridge, Lipomyelomeningocele, C... OMIM:616580
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Short philtrum, Atrial septal defect, Everted lower lip vermilion, Pos... OMIM:616898
Isotretinoin Syndrome
Sacral dimple, Microtia, Micrognathia, Biparietal narrowing, Spina bifida occulta, Abnormality of... ORPHA:2305
Osteopathia Striata-Cranial Sclerosis Syndrome
Retrognathia, Delayed cranial suture closure, Hyperlordosis, Conductive hearing impairment, Delay... ORPHA:2780
Sweeney-Cox Syndrome
Polyhydramnios, Asplenia, Broad neck, Micrognathia, Prominent metopic ridge, Uplifted earlobe, Cu... OMIM:617746
Meier-Gorlin Syndrome 8
Microtia, Micrognathia, Bilateral cryptorchidism, Narrow mouth, Low-set ears, Intrauterine growth... OMIM:617564
Achondrogenesis Type 1B
Polyhydramnios, Hydrops fetalis, Long philtrum, Micrognathia, Macrocephaly, Short neck, Umbilical... ORPHA:93298
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Third degree atrioventricular block, Conotruncal defect, High pala... ORPHA:40366
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Conductive hearing impairment, Microtia, Micrognathia, Abnormal vertebral morpho... OMIM:239800
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Micrognathia, Hypoplasti... OMIM:601186
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia, Polyhydramnios, Flexion contracture, Microtia, Macrocephaly, Fragile ... OMIM:612138
Acrocardiofacial Syndrome
Camptodactyly of finger, Cleft upper lip, Joint dislocation, Hyperthyroidism, Truncus arteriosus,... ORPHA:2008
Achondrogenesis Type 1A
Polyhydramnios, Hydrops fetalis, Long philtrum, Micrognathia, Multiple rib fractures, Macrocephal... ORPHA:93299
Opitz-Kaveggia Syndrome
Delayed closure of the anterior fontanelle, Multiple joint contractures, Micrognathia, Camptodact... OMIM:305450
Achondrogenesis, Type Ib
Polyhydramnios, Absent or minimally ossified vertebral bodies, Hydrops fetalis, Short ribs, Breec... OMIM:600972
Achondrogenesis
Polyhydramnios, Hydrops fetalis, Long philtrum, Micrognathia, Macrocephaly, Short neck, Umbilical... ORPHA:932
Mucopolysaccharidosis, Type Vii
Flexion contracture, Short neck, Hepatomegaly, Gingival overgrowth, Hearing impairment, Splenomeg... OMIM:253220
Auriculocondylar Syndrome 1
Hypoplastic superior helix, Dental malocclusion, Cleft at the superior portion of the pinna, Mand... OMIM:602483
Charge Syndrome
Polyhydramnios, Aortic arch aneurysm, Optic atrophy, Delayed eruption of teeth, Anterior hypopitu... ORPHA:138
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Polyhydramnios, Narrow palate, Jejunal atresia, P... OMIM:612949
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Cyanosis, Macrotia, High palate, Microgn... ORPHA:3304
Phaver Syndrome
Camptodactyly of finger, Conductive hearing impairment, Myelomeningocele, Ventricular septal defe... ORPHA:2876
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Craniosynostosis, Herrmann-Opitz Type
Abnormal antihelix morphology, Webbed neck, Microtia, Micrognathia, Oligohydramnios, Abnormal rib... ORPHA:2145
Alg9-Cdg
Delayed cranial suture closure, Pericardial effusion, Micrognathia, Abnormal left ventricular out... ORPHA:79328
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... OMIM:242700
Van Esch-O'Driscoll Syndrome
Retrognathia, Sacral dimple, Pulmonary valve atresia, Ventricular septal defect, Wide mouth, Micr... OMIM:301030
Distal 22Q11.2 Microduplication Syndrome
Abnormal antihelix morphology, Camptodactyly of finger, Micrognathia, Biparietal narrowing, Smoot... ORPHA:261337
Wilson-Turner Syndrome
Microtia, Micrognathia, Malar prominence, Thin upper lip vermilion, Cryptorchidism, Hypogonadotro... ORPHA:3459
Zechi-Ceide Syndrome
Conductive hearing impairment, Mandibular prognathia, Microtia, Oligodontia, Short philtrum, Cere... ORPHA:217017
Parc Syndrome
Cleft palate, Microretrognathia OMIM:600331
Greenberg Dysplasia
Polyhydramnios, Absent or minimally ossified vertebral bodies, Micrognathia, Nonimmune hydrops fe... OMIM:215140
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Retrognathia, Sacral dimple, Macrotia, High palate, Long philtrum, Ventricular septal defect, Cer... ORPHA:505237
Saethre-Chotzen Syndrome
Abnormal antihelix morphology, Delayed cranial suture closure, Conductive hearing impairment, Opt... ORPHA:794
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Death in infancy, Impulsivity, Irritability, Restlessness OMIM:605899
22Q11.2 Duplication Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Micrognathia, Interrupted aortic arc... ORPHA:1727
Warsaw Breakage Syndrome
High palate, Ventricular septal defect, Wide mouth, Hypoplasia of the cochlea, Cutis marmorata, C... OMIM:613398
Adams-Oliver Syndrome 6
Esophageal varix, Splenomegaly, Truncus arteriosus, Ventricular septal defect OMIM:616589
Thymic Aplasia
Hypothyroidism, T lymphocytopenia, Malabsorption, Coombs-positive hemolytic anemia, Thyroiditis, ... ORPHA:83471
Distal Xq28 Microduplication Syndrome
Patent ductus arteriosus, Hypothyroidism, Patent foramen ovale, Upper eyelid edema, High palate, ... ORPHA:293939
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Shoulder dislocation, Micrognathia, Elbow flexion contracture, Microdontia, Hip dislocation, Disl... OMIM:245600
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Hypogonadism, Microtia, Facial palsy, Everted lower lip vermilion,... ORPHA:2316
Van Maldergem Syndrome 1
Irregular dentition, Conductive hearing impairment, Micrognathia, Camptodactyly, Periventricular ... OMIM:601390
De Barsy Syndrome
Delayed closure of the anterior fontanelle, Delayed eruption of teeth, Progeroid facial appearanc... ORPHA:2962
Kallmann Syndrome-Heart Disease Syndrome
Midgut malrotation, Double outlet right ventricle, Cyanosis, Sensorineural hearing impairment, Pu... ORPHA:2326
Familial Thyroid Dyshormonogenesis
Delayed cranial suture closure, Increased radioactive iodine uptake, Sensorineural hearing impair... ORPHA:95716
Verloove Vanhorick-Brubakk Syndrome
Non-midline cleft lip, Microtia, Micrognathia, Abnormality of the parathyroid gland, Cleft palate... ORPHA:3429
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal lower lip morphology, Abnormal aortic morphology, Cerebral cortical atrophy, Ventricular... ORPHA:1166
Van Maldergem Syndrome 2
Hip subluxation, Irregular dentition, Conductive hearing impairment, Micrognathia, Periventricula... OMIM:615546
Oculoauriculovertebral Spectrum With Radial Defects
Non-midline cleft lip, Atrioventricular canal defect, Conductive hearing impairment, Sensorineura... ORPHA:2549
Fetal Gaucher Disease
Fetal akinesia sequence, Splenomegaly, Flexion contracture, High palate, Hydrops fetalis, Death i... ORPHA:85212
Cowden Syndrome 5
Hypothyroidism, Colonic diverticula, High palate, Kyphosis, Hyperthyroidism, Micrognathia, Thyroi... OMIM:615108
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Polyhydramnios, Spinal dysraphism, Flexion contracture, Micrognathia, Camptodactyly, Redundant ne... ORPHA:96334
Even-Plus Syndrome
Vertebral clefting, Patent foramen ovale, High palate, Microtia, Hypodontia, Agenesis of corpus c... OMIM:616854
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Abnormal macrophage morp... ORPHA:353
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety OMIM:619031
Infantile Sialic Acid Storage Disease
Premature birth, Hydrops fetalis, High palate, Hydrocephalus, Congestive heart failure, Hepatomeg... OMIM:269920
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Polyhydramnios, Global brain atrophy, Everted lower lip vermilion, Promi... OMIM:616920
20P12.3 Microdeletion Syndrome
Long philtrum, Microtia, Wolff-Parkinson-White syndrome, Macrocephaly, Atrial septal defect, Hypo... ORPHA:261295
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Posteriorly rotated ears, Ventricular septal defect, Reduced alpha/beta synthesis ratio, Macroglo... OMIM:301040
Weaver-Williams Syndrome
Cleft palate, Narrow mouth, Protruding ear ORPHA:3448
Mycophenolate Mofetil Embryopathy
Hydrops fetalis, Ventricular septal defect, Anotia, Microtia, Micrognathia, Bifid thoracic verteb... ORPHA:268249
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Microtia, Spina bifida, Micrognathia, Hydrocephalus, Aplasia/Hypoplasia ... ORPHA:2839
Tarp Syndrome
Short sternum, High palate, Optic atrophy, Microtia, Glossoptosis, Micrognathia, Tongue nodules, ... OMIM:311900
Cowden Syndrome 6
Hypothyroidism, Colonic diverticula, High palate, Kyphosis, Hyperthyroidism, Micrognathia, Thyroi... OMIM:615109
Fetal Akinesia Deformation Sequence 2
High palate, Broad neck, Micrognathia, Cryptorchidism, Tented upper lip vermilion, Low-set ears, ... OMIM:618388
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Hypothyroidism, Delayed closure of the anterior fontanelle, Conductive h... OMIM:607872
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Dextrocardia, Situs inversus totalis, Right aortic arch, Hearing impairment, Goiter OMIM:617577
Simpson-Golabi-Behmel Syndrome, Type 1
Polyhydramnios, Exaggerated median tongue furrow, Supernumerary nipple, Cervical ribs, Hepatoblas... OMIM:312870
Cutis Laxa, Autosomal Recessive, Type Ic
Hypoplasia of the thymus, Morgagni diaphragmatic hernia, Micrognathia, Progeroid facial appearanc... OMIM:613177
Congenital Myopathy 1B, Autosomal Recessive
Increased variability in muscle fiber diameter, Polyhydramnios, Hydrops fetalis, High palate, Cen... OMIM:255320
Tetraamelia-Multiple Malformations Syndrome
Polyhydramnios, Optic atrophy, Microtia, Septo-optic dysplasia, Micrognathia, Hydrocephalus, Miss... ORPHA:3301
Mulibrey Nanism
Enamel hypoplasia, Dental malocclusion, Cardiomegaly, Hydrops fetalis, Pericardial constriction, ... OMIM:253250
Myhre Syndrome
Pericardial effusion, Camptodactyly, Short neck, Skeletal muscle hypertrophy, Cleft palate, Heari... OMIM:139210
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Polyhydramnios, Broad neck, Bifid uvula, Optic nerve hypoplasia, Short neck, Peripheral pulmonary... OMIM:617506
Branchiogenic-Deafness Syndrome
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Submucous cleft hard pa... OMIM:609166
Kagami-Ogata Syndrome
Retrognathia, Patent ductus arteriosus, Splenomegaly, Flexion contracture, Diastasis recti, Long ... OMIM:608149
Hennekam-Beemer Syndrome
Delayed cranial suture closure, Camptodactyly of finger, Hypotension, Conductive hearing impairme... ORPHA:2135
X-Linked Intellectual Disability, Van Esch Type
Retrognathia, Microtia, Coronal craniosynostosis, Type II diabetes mellitus, Decreased testicular... ORPHA:163976
Lambert Syndrome
Aplasia/Hypoplasia of the cerebellum, Ventricular septal defect, Branchial anomaly, Wide mouth, J... ORPHA:1296
Acrocephalopolydactyly
Microtia, Hepatosplenomegaly, Short neck, Cystic hygroma, Genu recurvatum ORPHA:221054
Alg8-Cdg
Premature birth, Leukoencephalopathy, Anemia, Hydrops fetalis, Cerebral cortical atrophy, Optic a... ORPHA:79325
Rubinstein-Taybi Syndrome 1
Delayed cranial suture closure, Polyhydramnios, Premature thelarche, Flexion contracture, Patella... OMIM:180849
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Hypogonadism, Abnormality of the middle ear ossicles, Abnormal pin... OMIM:221300
Nabais Sa-De Vries Syndrome, Type 2
Hypothyroidism, Polyhydramnios, Gastroesophageal reflux, High palate, Microtia, Micrognathia, Hyp... OMIM:618829
Synaptic Congenital Myasthenic Syndromes
Pulmonary arterial hypertension, Abnormality of the knee, Mandibular prognathia, High palate, Dys... ORPHA:98915
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Incisor macrodontia, Long philtrum, Atrial septal defect, Coarctation o... OMIM:615502
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Systolic heart murmur, Webbed neck, Truncus arteriosus, Ventricular septal defect, Deat... OMIM:617478
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Genu varum, Macrotia, Mandibular prognathia, Arteriovenous malformation, Abnormal aortic arch mor... ORPHA:1110
Cowden Syndrome 1
Hypothyroidism, Colonic diverticula, Micrognathia, Ovarian carcinoma, Furrowed tongue, Ovarian cy... OMIM:158350
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune... OMIM:102700
Contractures-Developmental Delay-Pierre Robin Syndrome
Thoracolumbar scoliosis, Wrist flexion contracture, Glossoptosis, Microtia, Micrognathia, Lop ear... ORPHA:436003
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Polyhydramnios, Flexion contracture, Cerebral cortical atrophy, Increased head circumference, Mic... OMIM:300868
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Torticollis, Abnormal mandible morphology, Natal tooth OMIM:217150
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect, Anotia, Microtia, Micrognathia, Cleft palate OMIM:243440
Auriculocondylar Syndrome
Micrognathia, Bifid uvula, Question mark ear, Cleft palate, Hearing impairment, Glossoptosis, Cle... ORPHA:137888
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Ascending tubular aorta aneurysm, Truncus arteriosus, Micrognathia, Microdontia, Bifid uvula, Cam... OMIM:612474
Scimitar Syndrome
Truncus arteriosus, Abnormal vena cava morphology, Double outlet right ventricle, Ventricular sep... ORPHA:185
Truncus Arteriosus
Hypoplasia of the thymus, Truncus arteriosus, Pulmonary artery stenosis, Ventricular septal defec... ORPHA:3384
Fetal Akinesia Deformation Sequence 1
Camptodactyly of finger, Wrist flexion contracture, Polyhydramnios, Micrognathia, Elbow contractu... OMIM:208150
Mucopolysaccharidosis Type 3
Conductive hearing impairment, Flexion contracture, Optic atrophy, Abnormality of the middle ear ... ORPHA:581
Cleft Lip/Palate
Dental malocclusion, Conductive hearing impairment, Abnormal number of permanent teeth, Unilatera... ORPHA:199306
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft upper lip, High palate, Ventricular septal defect, Deep philtrum, Microtia, Widely spaced t... OMIM:612530
Turnpenny-Fry Syndrome
Polyhydramnios, Conductive hearing impairment, Microdontia, Hypoplasia of the primary teeth, Lumb... OMIM:618371
Mandibulofacial Dysostosis With Alopecia
Conductive hearing impairment, Delayed eruption of primary teeth, Glossoptosis, Microtia, Microgn... OMIM:616367
Perching Syndrome
Cyanosis, High palate, Camptodactyly, Scoliosis, Dysphagia, Joint contracture OMIM:617055
Yunis-Varon Syndrome
Hypoplasia of the frontal lobes, Polyhydramnios, Primary microcephaly, Micrognathia, Hip dislocat... ORPHA:3472
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Decreased response to growth hormone stimulation test, Broad neck, Microtia, Micrognathia, Bilate... OMIM:618336
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Vascular dilatation, Cardiomegaly, Severe platyspondyly, Deep ph... OMIM:613320
Craniofacial Microsomia
Conductive hearing impairment, Vertebral hypoplasia, Micrognathia, Hypoplasia of facial musculatu... OMIM:164210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Lissencephaly, Optic nerve hypoplasia, Type II lissencephaly, Polymicrogyria, Gray matter heterot... OMIM:614643
Intellectual Developmental Disorder, Autosomal Dominant 43
Gastroesophageal reflux, High palate, Microtia, Thin corpus callosum, Short philtrum, Frontal cor... OMIM:616977
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Schneckenbecken Dysplasia
Polyhydramnios, Advanced ossification of carpal bones, Anterior rib cupping, Short ribs, Narrow v... OMIM:269250
Diprosopus
Non-midline cleft lip, Abnormal cardiac septum morphology, Anencephaly, External ear malformation... ORPHA:1681
Disorder Of Sex Development-Intellectual Disability Syndrome
Genu valgum, Kyphosis, Microtia, Hypogonadism, Short philtrum, Severe sensorineural hearing impai... ORPHA:2983
Transaldolase Deficiency
Anemia, Hydrops fetalis, Telangiectasia, Premature skin wrinkling, Atrial septal defect, Hepatosp... ORPHA:101028
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hypoplasia of the frontal lobes, Flexion contracture, Micrognathia, Elbow flexion contracture, Hi... OMIM:210710
Short Stature And Facioauriculothoracic Malformations
Cleft upper lip, High palate, Ventricular septal defect, Microtia, Cervical ribs, Short neck, Mic... OMIM:609654
Holoprosencephaly 13, X-Linked
Vertebral clefting, Micrognathia, Butterfly vertebrae, Optic nerve hypoplasia, Median cleft lip, ... OMIM:301043
Cranioectodermal Dysplasia 2
Horizontal ribs, Polyhydramnios, Micrognathia, Microdontia, Everted lower lip vermilion, Short ne... OMIM:613610
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft lip, Decreased testicular size, Cleft palate, Hearing impairment, Protruding ear ORPHA:85273
Tarp Syndrome
Abnormal antihelix morphology, Cyanosis, Optic atrophy, Micrognathia, Prominent antihelix, Abnorm... ORPHA:2886
Gm1 Gangliosidosis Type 1
Macrotia, Hydrops fetalis, Long philtrum, Beaking of vertebral bodies T12-L3, Diffuse white matte... ORPHA:79255
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Desquamation of skin soon after birth, Everted upper lip vermilion, Micrognathia,... OMIM:608013
Intellectual Developmental Disorder, Autosomal Dominant 1
Hypoplasia of the frontal lobes, Micrognathia, Microdontia, Everted lower lip vermilion, Cupped e... OMIM:156200
Tetrasomy 5P
Cyanosis, Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdominal wall musculature, ... ORPHA:3309
Wolf-Hirschhorn Syndrome
Optic atrophy, Abnormal cardiac septum morphology, Micrognathia, Abnormal lip morphology, Cleft p... ORPHA:280
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Atrial septal defect, Narrow mouth, Malar flattening, Cleft palate, Cupped ear ORPHA:93946
Ciliary Dyskinesia, Primary, 40
Patent ductus arteriosus, Congenitally corrected transposition of the great arteries, Atrioventri... OMIM:618300
Distal Monosomy 12Q
Bilateral conductive hearing impairment, Micrognathia, Elbow flexion contracture, Median cleft li... ORPHA:96149
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Patent ductus arteriosus, Polyhydramnios, Microtia, Micrognathia, Duoden... ORPHA:2547
Down Syndrome
Hypothyroidism, Atrioventricular canal defect, Conductive hearing impairment, Redundant neck skin... OMIM:190685
Cerebrofacioarticular Syndrome
Irregular dentition, Gray matter heterotopia, Conductive hearing impairment, Microtia, Lymphedema... ORPHA:314679
Robinow Syndrome, Autosomal Dominant 2
Conductive hearing impairment, Cleft soft palate, Micrognathia, Camptodactyly, Cleft palate, Ging... OMIM:616331
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Micrognathia, Meningoencephalocele, Optic nerve hypoplasia, Type II lissencephaly,... OMIM:236670
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Sacral dimple, Polyhydramnios, Mandibular prognathia, Microtia, Aganglionic megacolon, Hydrocepha... OMIM:613603
Gm1-Gangliosidosis, Type I
Splenomegaly, Thickened ribs, Hydrops fetalis, Kyphosis, Death in infancy, Abnormal heart valve m... OMIM:230500
Orofaciodigital Syndrome Xiv
Bifid tongue, Micrognathia, Holoprosencephaly, Cleft palate, Optic disc coloboma, Posteriorly rot... OMIM:615948
Hemifacial Microsomia With Radial Defects
Non-midline cleft lip, Conductive hearing impairment, Microtia, Orofacial cleft, Cleft palate, Sh... OMIM:141400
Mgat2-Cdg
Patent ductus arteriosus, Gastroesophageal reflux, Hydrops fetalis, Ventricular septal defect, Ky... ORPHA:79329
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Fetal akinesia sequence, Flexion contracture, Hydrops fetalis, Death in infancy, Simplified gyral... OMIM:618815
Loeys-Dietz Syndrome 5
Cleft soft palate, Reduced subcutaneous adipose tissue, Bifid uvula, Ascending aortic dissection,... OMIM:615582
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... ORPHA:99832
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Death in infancy, Jaundice, Nephrogenic diabetes insipidus, Arthrogryp... OMIM:613404
6Q16 Microdeletion Syndrome
Retrognathia, Microtia, Micrognathia, Macrocephaly, Abnormal ear morphology, Low-set ears ORPHA:171829
Split-Hand/Foot Malformation 3
High palate, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Abnormal pinna morpholog... OMIM:246560
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Non-midline cleft lip, Conductive hearing impairment, Microtia, Microgna... ORPHA:246
Lymphatic Malformation 6
Hypothyroidism, Polyhydramnios, Micrognathia, Nonimmune hydrops fetalis, Pleural effusion, Genita... OMIM:616843
Meier-Gorlin Syndrome 1
Flexion contracture, Micrognathia, Osteochondritis dissecans, Microdontia, Camptodactyly, Elbow d... OMIM:224690
Braddock-Carey Syndrome 2
Retrognathia, Pierre-Robin sequence, Wide mouth, Cleft palate, Thrombocytopenia, Hearing impairme... OMIM:619981
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Conductive hearing impairment, Sensorineural hearing impairment, Ventricular sep... OMIM:214300
Klippel-Trénaunay Syndrome
Patent ductus arteriosus, Pulmonary embolism, Hydrops fetalis, Macrocephaly, Abnormality of the p... ORPHA:90308
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Increased head circumference, Pineal cyst, Thick corpus callosum, Left ventricular noncompaction,... OMIM:300967
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Long philtrum, Microtia, Bifid uvula, Macrocephaly, Everted lower lip vermilion, Downturned corne... OMIM:618089
Femoral-Facial Syndrome
Hypoplastic acetabulae, Truncus arteriosus, Humeroradial synostosis, Micrognathia, Smooth philtru... OMIM:134780
Platyspondylic Dysplasia, Torrance Type
Genu varum, Polyhydramnios, Hydrops fetalis, Abnormal carpal morphology, Platyspondyly, Low-set e... ORPHA:85166
Neuraminidase Deficiency
Hydrops fetalis, Sensorineural hearing impairment, Skeletal muscle atrophy, Bone-marrow foam cell... OMIM:256550
Vacterl With Hydrocephalus
Retrognathia, Polyhydramnios, Microtia, third degree, Anotia, Absence of the sacrum, Spina bifida... ORPHA:3412
Hennekam Syndrome
Camptodactyly of finger, Conductive hearing impairment, Delayed eruption of teeth, Pericardial ef... ORPHA:2136
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Sensorineural hearing impairment, Long philtrum, Micrognathia, Cleft palate, Malar flattening, Gl... ORPHA:166100
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching, Microcephaly OMIM:107500
Pendred Syndrome
Hypothyroidism, Sensorineural hearing impairment, Thyroid carcinoma, Hypoplasia of the cochlea, E... ORPHA:705
Treacher Collins Syndrome 3
Conductive hearing impairment, Microtia, Micrognathia, Hypoplasia of the zygomatic bone, Cleft pa... OMIM:248390
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability OMIM:234500
Abruzzo-Erickson Syndrome
Cleft palate, Macrotia, Hearing impairment, Protruding ear OMIM:302905
Congenital Myasthenic Syndrome
Cyanosis, Polyhydramnios, Limb-girdle muscle weakness, Muscle fiber atrophy, Dysphagia, Distal am... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Polyhydramnios, Limb-girdle muscle weakness, Muscle fiber atrophy, Dysphagia, Distal am... ORPHA:98914
Microcephaly 6, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Microtia OMIM:608393
Diamond-Blackfan Anemia 6
Patent ductus arteriosus, Retrognathia, Cleft upper lip, Ventricular hypertrophy, Ventricular sep... OMIM:612561
Coxoauricular Syndrome
Hip dislocation, Hearing impairment, Microtia OMIM:122780
Peters Plus Syndrome
Polyhydramnios, Conductive hearing impairment, Cerebral cortical atrophy, Optic atrophy, Abnormal... ORPHA:709
Blomstrand Lethal Chondrodysplasia
Polyhydramnios, Hydrops fetalis, Long philtrum, Natal tooth, Short ribs, Micrognathia, Synostosis... ORPHA:50945
Branchiooculofacial Syndrome
Conductive hearing impairment, Premature graying of hair, Micrognathia, Elbow flexion contracture... OMIM:113620
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Polyhydramnios, Cyanosis, Asplenia, H... OMIM:306955
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Wide anterior fontanel, Abnormality of thyroid physiology, Reduced radioactive iodine uptake, Dec... ORPHA:95715
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Horizontal ribs, Neonatal death, Wide anterior fontanel, Natal tooth, Microti... OMIM:617925
Achondrogenesis, Type Ii
Horizontal ribs, Polyhydramnios, Hydrops fetalis, Long philtrum, Short ribs, Absent vertebral bod... OMIM:200610
Cousin Syndrome
Wrist flexion contracture, Anterior rounding of vertebral bodies, Humeroradial synostosis, Microg... OMIM:260660
Congenital Disorder Of Deglycosylation 2
Cleft earlobe, Sacral dimple, Gray matter heterotopia, High palate, Microtia, Micrognathia, Thin ... OMIM:619775
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Hyperactivity, Aggressive behavior, Agitation OMIM:309548
20Q11.2 Microduplication Syndrome
Retrognathia, Sacral dimple, Limited elbow extension, Microtia, Thickened ears, Tented philtrum, ... ORPHA:363659
Fraser Syndrome 1
Conductive hearing impairment, Abnormality of the anus, Laryngeal stenosis, Subglottic stenosis, ... OMIM:219000
Distal Monosomy 15Q
Bifid tongue, Abnormal cardiac septum morphology, Micrognathia, Hip dislocation, Abnormal aortic ... ORPHA:1596
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Knee flexion contracture, Cyanotic episode, Primary microcephaly, Simplified gyral pattern, Micro... ORPHA:284417
Weiss-Kruszka Syndrome
Horizontal crus of helix, Ventricular septal defect, Microtia, Exaggerated cupid's bow, Bicuspid ... OMIM:618619
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Thick upper lip vermilion, Long philtrum, Wide mouth, Microtia, Thick lower lip vermilion, Cuboid... ORPHA:163654
Combined Oxidative Phosphorylation Defect Type 27
Diffuse cerebral atrophy, Nonimmune hydrops fetalis, Abnormal cerebral white matter morphology, D... ORPHA:477774
17Q24.2 Microdeletion Syndrome
Patent ductus arteriosus after birth at term, Otosclerosis, Decreased response to growth hormone ... ORPHA:529962
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Knee flexion contracture, Ventricular septal defect, Vascular ring, Kyphosis, Thick corpus callos... OMIM:603387
Split-Foot Deformity With Mandibulofacial Dysostosis
Cleft palate, Micrognathia, Malar flattening OMIM:183700
Permanent Congenital Hypothyroidism
Hypothyroidism, Jaundice, Macroglossia, Umbilical hernia, Thyroid dysgenesis, Goiter ORPHA:226292
Congenital Disorder Of Glycosylation, Type Ia
Hypothyroidism, Flexion contracture, Pericardial effusion, Nonimmune hydrops fetalis, Pericarditi... OMIM:212065
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Low-set ears, Ventricular septal defect, Bilateral cleft lip, Ankylo... OMIM:618021
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Gastroesophageal reflux, Postnatal macrocephaly, Periventricular white matter hyperintensities, M... OMIM:618158
Chromosome 18Q Deletion Syndrome
Conductive hearing impairment, Ascending tubular aorta aneurysm, Optic atrophy, Bifid uvula, Shor... OMIM:601808
Craniofacioskeletal Syndrome
Patent ductus arteriosus, Absent gallbladder, Ventricular septal defect, Hypoplastic frontal sinu... OMIM:300712
Mandibulofacial Dysostosis, Guion-Almeida Type
Conductive hearing impairment, Ventricular septal defect, Deep philtrum, Microtia, Esophageal atr... OMIM:610536
Microphthalmia, Syndromic 2
Hypothyroidism, Flexion contracture, Delayed eruption of teeth, Adrenal insufficiency, Bifid uvul... OMIM:300166
1P36 Deletion Syndrome
Delayed cranial suture closure, Camptodactyly of finger, Hypothyroidism, Conductive hearing impai... ORPHA:1606
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia, Micrognathia, Persistence of hemoglobin F, Unilateral cr... OMIM:300946
Congenital Fibrinogen Deficiency
Cyanosis, Hemorrhagic ovarian cyst, Subcutaneous hemorrhage, Volvulus, Decreased testicular size,... ORPHA:335
Boomerang Dysplasia
Polyhydramnios, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Decreased ... ORPHA:1263
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... OMIM:218700
Phocomelia, Schinzel Type
Meningocele, Hydrops fetalis, Humeroradial synostosis, Micrognathia, Anal atresia, Tracheoesophag... ORPHA:2879
Thyroid Hypoplasia
Hypothyroidism, Jaundice, Macroglossia, Thyroid hypoplasia ORPHA:95720
Fontaine Progeroid Syndrome
Conductive hearing impairment, Micrognathia, Microdontia, Reduced subcutaneous adipose tissue, Ev... OMIM:612289
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microtia, Widely spaced teeth, Microdontia, Heart murmur, Recurrent otitis media, Atrial septal d... ORPHA:2728
Intellectual Developmental Disorder, Autosomal Recessive 35
Long philtrum, Microtia, Micrognathia, Everted lower lip vermilion, Thin upper lip vermilion, Dow... OMIM:615162
Primary Pulmonary Hypoplasia
Cyanosis, Patellar hypoplasia, Micrognathia, Secundum atrial septal defect, Hypoxemia, Dextrocard... ORPHA:2257
Neu-Laxova Syndrome
Polyhydramnios, Flexion contracture, Abnormality of neuronal migration, Micrognathia, Bifid uvula... ORPHA:2671
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Hyperlordosis, Limited knee flexion/extension, Right bundle branch block, Limited elbow movement,... ORPHA:268
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Hyperactivity, Hydrocephalus OMIM:619470
Meier-Gorlin Syndrome 7
Breast aplasia, Heart block, Dislocated radial head, Cleft palate, Second degree atrioventricular... OMIM:617063
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Retrognathia, Mandibular prognathia, Micrognathia, Bifid uvula, Submucous cleft hard palate, Clef... ORPHA:2521
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Long philtrum, Microtia, Micrognathia, Everted lower lip vermilion, Thin upper lip vermilion, Low... ORPHA:357175
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Agitation ORPHA:100973
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Ventricular septal defect, Ectopic anus, Short philtrum, Downturned corner... ORPHA:94066
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Premature thelarche, Sclerotic cranial sutures, Ventricular septal... ORPHA:371428
Cerebrocostomandibular Syndrome
Polyhydramnios, Conductive hearing impairment, Cleft soft palate, Micrognathia, Elbow flexion con... OMIM:117650
Meier-Gorlin Syndrome 5
Small earlobe, Gastroesophageal reflux, Patellar aplasia, Long philtrum, Microtia, Micrognathia, ... OMIM:613805
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Delayed eruption of teeth, Peripheral pulmonary artery stenos... ORPHA:2712
Fetal Parvovirus Syndrome
Anemia, Hydrops fetalis, Hypertrophic cardiomyopathy, Thrombocytopenia, Ascites, Increased nuchal... ORPHA:295
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Truncus arteriosus, Hypertrophic cardiomyopathy, Situs inversus totalis, Aortic valve s... OMIM:615415
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Non-midline cleft lip, Abnormality of the philtrum, Ventricular septal defect, Microtia, Bipariet... ORPHA:1770
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Trichorhinophalangeal Syndrome, Type Ii
Hip subluxation, Micrognathia, Scapular winging, Hearing impairment, Recurrent otitis media, Micr... OMIM:150230
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Hypoplasia of the thymus, Joint contracture of the hand, Micrognathia, Jau... OMIM:214110
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Irregular dentition, Microtia, Lymphedema, Pulmonary lymphangiectasia, Camptodactyly, Pericardial... OMIM:616006
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Bilateral conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia, Ab... OMIM:128980
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Vertebral clefting, Gastroesophageal reflux, Stapes ankylosis, Long philtrum, Velopharyngeal insu... OMIM:614701
Branchiootic Syndrome 3
Branchial cyst, Sensorineural hearing impairment OMIM:608389
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Sensorineural hearing impairment, Broad neck, Granulocytopenia, Microtia, Micrognathia, Bifid uvu... OMIM:606164
Schwartz-Jampel Syndrome, Type 1
Wrist flexion contracture, Micrognathia, Short neck, Skeletal muscle hypertrophy, Flexion contrac... OMIM:255800
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... OMIM:618052
Cog1-Cdg
Broad neck, Micrognathia, Butterfly vertebrae, Hepatosplenomegaly, Short neck, Posterior rib gap,... ORPHA:263508
Trisomy 20P
Abnormal antihelix morphology, Camptodactyly of finger, Ectopic anus, Micrognathia, Abnormal auto... ORPHA:261318
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Radioulnar dislocation, High palate, Abnormality of the elbow, Micrognathia, Elbow flexion contra... ORPHA:93359
Chromosome 16P13.3 Duplication Syndrome
Micrognathia, Microdontia, Bifid uvula, Hip dislocation, Camptodactyly, Short neck, Smooth philtr... OMIM:613458
Esophageal Atresia
Cyanosis, Polyhydramnios, Subglottic stenosis, Dysphagia, Cleft palate, Hearing impairment, Ventr... ORPHA:1199
Amish Lethal Microcephaly
Cleft soft palate, Optic atrophy, Death in infancy, Spina bifida, Micrognathia, Limb hypertonia, ... ORPHA:99742
Peters-Plus Syndrome
Polyhydramnios, Broad neck, Short lingual frenulum, Micrognathia, Microtia, second degree, Short ... OMIM:261540
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Ventricular septal defect, Hypogonadism, Esophageal atresia, Death in i... OMIM:300514
Dysplastic Cortical Hyperostosis
Polyhydramnios, Hydrops fetalis, Abnormality of neuronal migration, Microcephaly, Hepatomegaly, S... ORPHA:2204
Noonan Syndrome 7
Webbed neck, Dysphagia, Pulmonic stenosis, Impaired oropharyngeal swallow response, Macrocephaly,... OMIM:613706
Hydrolethalus
Retrognathia, Polyhydramnios, Gingival cleft, Micrognathia, Anencephaly, Arrhinencephaly, Hydroce... ORPHA:2189
Blackfan-Diamond Anemia
Acute myeloid leukemia, Cleft soft palate, Micrognathia, Nonimmune hydrops fetalis, Short neck, T... ORPHA:124
Leukocyte Adhesion Deficiency Type Ii
Hypoplasia of the frontal lobes, Conductive hearing impairment, Hepatomegaly, Gingival overgrowth... ORPHA:99843
20Q13.33 Microdeletion Syndrome
Sacral dimple, Prominent crus of helix, Dilation of Virchow-Robin spaces, Hip dislocation, Atrial... ORPHA:261311
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Camptodactyly of finger, Shoulder dislocation, Ventricular hypertrophy, Flexion contracture, Dela... OMIM:143095
Dubowitz Syndrome
Abnormal antihelix morphology, Delayed cranial suture closure, Delayed eruption of teeth, Microgn... ORPHA:235
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Anemia, Conductive hearing impairment, Broad neck, Ventricular septal d... OMIM:613309
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Pseudobulbar paralysis, Supernumerary nipple, Tricuspid regurgitation, Patent foramen ovale, Abno... ORPHA:466791
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Thoracolumbar scoliosis, Microtia, Carpal bone hypoplasia, Premature rupture of membranes, Platys... OMIM:616723
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Conductive hearing impairment, Cerebral cortical atrophy, Microtia, thir... ORPHA:2753
Parenti-Mignot Neurodevelopmental Syndrome
Microtia, Micrognathia, Short philtrum, Low-set ears, Cupped ear, Craniosynostosis, Posteriorly r... OMIM:619873
Pediatric-Onset Graves Disease
Sinus tachycardia, Increased circulating T4 concentration, Increased circulating free T3, Graves ... ORPHA:525731
Biliary, Renal, Neurologic, And Skeletal Syndrome
Atrioventricular canal defect, Polyhydramnios, Unbalanced atrioventricular canal defect, Cardiac ... OMIM:619534
Congenital Disorder Of Glycosylation, Type Iil
Retrognathia, Enamel hypoplasia, Patent ductus arteriosus, Splenomegaly, Peau d'orange, Ventricul... OMIM:614576
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Hyperlordosis, Muscle fiber splitting, Flexion contracture, Increased variability in muscle fiber... OMIM:253700
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Subdural hemorrhage, Smooth philtrum, Dehydration, Thrombocytopenia, Pulmonary emb... ORPHA:79282
Cardiofaciocutaneous Syndrome 1
Hypoplasia of the frontal lobes, Polyhydramnios, Cerebral cortical atrophy, Micrognathia, Hypertr... OMIM:115150
Beta-Mercaptolactate Cysteine Disulfiduria
Genu valgum, High palate, Atrial septal defect, Hypoplasia of the ear cartilage, Low-set, posteri... ORPHA:1035
Generalized Arterial Calcification Of Infancy
Cyanosis, Ventricular hypertrophy, Stapes ankylosis, Conductive hearing impairment, Polyhydramnio... ORPHA:51608
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Retrognathia, Sensorineural hearing impairment, Patellar hypoplasia, Long philtrum, Thick corpus ... ORPHA:464288
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Polyhydramnios, Hydrops fetalis, Fetal pleural effusion, Fetal ascites, Hepatomegaly, Fetal peric... OMIM:619462
Congenital Gerbode Defect
Pedal edema, Systolic heart murmur, Palpitations, Peripheral edema, Elevated right atrial pressur... ORPHA:99095
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Weakness of long finger extensor muscles, High palate, Abnormality of masticatory muscl... ORPHA:98913
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Microtia, Arrhinencephaly, Radioulnar synostosis, Microretrognathia, Malar f... ORPHA:1788
Yunis-Varon Syndrome
Hypoplasia of the frontal lobes, Polyhydramnios, Micrognathia, Hypoplastic facial bones, Hip disl... OMIM:216340
Meier-Gorlin Syndrome 6
Gastroesophageal reflux, Conductive hearing impairment, Decreased response to growth hormone stim... OMIM:616835
Aymé-Gripp Syndrome
Delayed cranial suture closure, Cerebral cortical atrophy, Pericardial effusion, Camptodactyly, P... ORPHA:1272
Ohdo Syndrome, X-Linked
High palate, Long philtrum, Microtia, Widely spaced teeth, Micrognathia, Microdontia, Narrow mout... OMIM:300895
Brachytelephalangic Chondrodysplasia Punctata
Vertebral hypoplasia, Butterfly vertebrae, Optic nerve hypoplasia, Hypoplastic cervical vertebrae... ORPHA:79345
Proximal 16P11.2 Microduplication Syndrome
Microtia, Thin upper lip vermilion, Congenital diaphragmatic hernia, Abnormal basal ganglia MRI s... ORPHA:370079
Cardiofaciocutaneous Syndrome
Cerebral cortical atrophy, Optic atrophy, Biparietal narrowing, Hypertrophic cardiomyopathy, Shor... ORPHA:1340
Treacher Collins Syndrome 1
Hypoplasia of the pharynx, Conductive hearing impairment, Cleft soft palate, Wide mouth, Microtia... OMIM:154500
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Retrognathia, Patent ductus arteriosus, Sensorineural hearing impairment, Ventricular septal defe... OMIM:612938
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Vascular ring, Lymphedema, ... OMIM:601927
Ohdo Syndrome
Long philtrum, Microtia, Widely spaced teeth, Micrognathia, Narrow mouth, Smooth philtrum, Crypto... OMIM:249620
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Non-midline cleft lip, Abnormality of the philtrum, Bifid tongue, Cleft soft p... ORPHA:2919
Bamforth-Lazarus Syndrome
Retrognathia, Cleft palate, Thyroid agenesis, Congenital hypothyroidism ORPHA:1226
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Patent ductus arteriosus, Absent gallbladder, Anemia, Ventricular septal defect, Microtia, Heart ... ORPHA:163979
Microgastria-Limb Reduction Defect Syndrome
Truncus arteriosus, Elbow dislocation, Hepatomegaly, Abnormal cortical gyration, Esophageal atres... ORPHA:2538
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Monosomy 9P
Abnormal antihelix morphology, Micrognathia, Short neck, Abnormal rib morphology, Cleft palate, A... ORPHA:261112
Indomethacin Embryofetopathy
Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Premature birt... ORPHA:1909
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Nodular goiter, Abnormal neck blood vessel morphology, Colon canc... ORPHA:319487
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Burn-Mckeown Syndrome
Cleft upper lip, Conductive hearing impairment, Mandibular prognathia, Ventricular septal defect,... OMIM:608572
8Q22.1 Microdeletion Syndrome
Abnormal antihelix morphology, Camptodactyly of finger, Long philtrum, Hypogonadism, Submucous cl... ORPHA:178303
Paganini-Miozzo Syndrome
Mandibular prognathia, Microtia, Downturned corners of mouth, Thin vermilion border, Low-set ears... OMIM:301025
Buratti-Harel Syndrome
Gastroesophageal reflux, High palate, Dilation of Virchow-Robin spaces, Microtia, Velopharyngeal ... OMIM:619314
Apert Syndrome
Morphological abnormality of the semicircular canal, Conductive hearing impairment, Sensorineural... ORPHA:87
Marshall-Smith Syndrome
Irregular dentition, Bilateral conductive hearing impairment, Microdontia, Atlantoaxial dislocati... OMIM:602535
Heart Defects, Congenital, And Other Congenital Anomalies
Truncus arteriosus, Microcolon, Hypoplastic tricuspid valve, Cervical ribs, Pulmonary artery sten... OMIM:600001
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... OMIM:275200
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Retrognathia, Webbed neck, Esophageal atresia, Fused cervical vertebrae, Butterfly vertebrae, Sub... OMIM:619227
Seckel Syndrome 7
Central hypothyroidism, Lumbar scoliosis, Abnormal carpal morphology, Microtia, Microcephaly, Mad... OMIM:614851
Desmosterolosis
Abnormality of neuronal migration, Micrognathia, Bifid uvula, Lissencephaly, Cleft palate, Spleno... ORPHA:35107
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, Mental deterioration ORPHA:2382
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis, Short ribs, Anencephaly, Hydrocephalus, Cerebellar vermis hypopl... OMIM:616546
Microtia, Hearing Impairment, And Cleft Palate
Microtia, Increased incisura length, Mixed hearing impairment, Cleft palate, Overfolded helix OMIM:612290
Nager Syndrome
Non-midline cleft lip, Wide mouth, Microtia, Micrognathia, Hypoplasia of the maxilla, Abnormal pa... ORPHA:245
Achondrogenesis, Type Ia
Hypoplastic sacrum, Polyhydramnios, Hydrops fetalis, Flaring of rib cage, Short ribs, Unossified ... OMIM:200600
Campomelia, Cumming Type
Pancreatic cysts, Hydrops fetalis, Death in infancy, Lymphedema, Prematurely aged appearance, Oli... ORPHA:1318
Feingold Syndrome 1
Polyhydramnios, Asplenia, Micrognathia, Everted lower lip vermilion, Hearing impairment, Posterio... OMIM:164280
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis, Primary microcephaly, Death in infancy OMIM:619340
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Patent ductus arteriosus, Retrognathia, High palate, Sensorineural hearing impairment, Low-set ea... ORPHA:52055
Pendred Syndrome
Thyroid carcinoma, Cochlear malformation, Abnormal vestibular function, Compensated hypothyroidis... OMIM:274600
Neurodevelopmental Disorder With Spasticity And Poor Growth
Knee flexion contracture, Patent ductus arteriosus, Patent foramen ovale, Gastroesophageal reflux... OMIM:618076
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Macroglossia, Decreased circulati... ORPHA:226313
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Everted upper lip vermilion, Wide mouth, Microtia, Widely spaced teeth, Macrocephaly, Oligohydram... OMIM:619056
Mucopolysaccharidosis Type 2, Attenuated Form
Camptodactyly of finger, Thickened ribs, Conductive hearing impairment, Flexion contracture, Opti... ORPHA:217093
Kagami-Ogata Syndrome
Coat hanger sign of ribs, Polyhydramnios, Diastasis recti, Webbed neck, Microtia, Micrognathia, H... ORPHA:254519
Microphthalmia, Syndromic 8
Cleft upper lip, Mandibular prognathia, Widely-spaced maxillary central incisors, Cryptorchidism,... OMIM:601349
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Tetraploidy
Aplasia/Hypoplasia of the thymus, Micrognathia, Biparietal narrowing, Short philtrum, Microcephal... ORPHA:3305
Meacham Syndrome
Aplasia of the left hemidiaphragm, Ventricular septal defect, Enlarged kidney, Single umbilical a... OMIM:608978
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis, Adrenal hypoplasia OMIM:613124
Absence Of The Pulmonary Artery
Cyanosis, Pedal edema, Systolic heart murmur, Truncus arteriosus, Abnormal cardiac septum morphol... ORPHA:980
Tetrasomy 9P
Abnormal cardiac septum morphology, Micrognathia, Bifid uvula, Lissencephaly, Pericarditis, Myosi... ORPHA:3310
Distal Monosomy 10Q
Micrognathia, Hip dislocation, Morphological abnormality of the vestibule of the inner ear, Spina... ORPHA:96148
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Decreased response to growth hormone stimulation test, Ventricular... OMIM:220210
Atelosteogenesis, Type Ii
Increased intervertebral space, Horizontal sacrum, Death in infancy, Micrognathia, Cervical kypho... OMIM:256050
Spondylometaphyseal Dysplasia, Schmidt Type
Polyhydramnios, Abnormality of the knee, Genu valgum, Gastroesophageal reflux, Cleft soft palate,... ORPHA:93316
Brain-Lung-Thyroid Syndrome
Pulmonary arterial hypertension, Patent foramen ovale, Thyroid hemiagenesis, Sensorineural hearin... ORPHA:209905
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the ... ORPHA:3236
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Nodular goiter, Abnormal neck blood vessel morphology, Colon canc... ORPHA:97290
Galloway-Mowat Syndrome
Camptodactyly of finger, Premature birth, Macrotia, Aqueductal stenosis, Abnormality of neuronal ... ORPHA:2065
Hardikar Syndrome
Cleft soft palate, Hepatosplenomegaly, Celiac disease, Pulmonary artery stenosis, Hepatomegaly, H... OMIM:301068
Meier-Gorlin Syndrome 4
Patellar aplasia, Microtia, Thick lower lip vermilion, Micrognathia, Hypoplasia of the maxilla, B... OMIM:613804
Combined Oxidative Phosphorylation Deficiency 47
Sensorineural hearing impairment, Long philtrum, Dysphagia, Short neck, Cryptorchidism, Hepatomeg... OMIM:618958
Congenital Pulmonary Lymphangiectasia
Cyanosis, Gastroesophageal reflux, Pulmonary arterial hypertension, Hydrops fetalis, Pulmonic ste... ORPHA:2414
Mucopolysaccharidosis Type 7
Anterior beaking of lumbar vertebrae, Hydrops fetalis, Lymphedema, Arteriovenous malformation, Sh... ORPHA:584
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting, Attention deficit hyper... OMIM:619827
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Redundant neck skin, Neonatal death, ... OMIM:619003
Mucopolysaccharidosis Type 2, Severe Form
Camptodactyly of finger, Thickened ribs, Conductive hearing impairment, Flexion contracture, Opti... ORPHA:217085
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Patent ductus arteriosus, Pulmonary arterial hypertension, Cleft soft palate, Microtia, Micrognat... ORPHA:2282
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Thick upper lip vermilion, Flexion contracture, Long philtrum, Wide mouth, Microtia, Thick lower ... OMIM:611717
Trisomy 8Q
Non-midline cleft lip, Myelomeningocele, Bifid tongue, High palate, Micrognathia, Abnormal oral f... ORPHA:1752
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood, Microcephaly OMIM:302000
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Mandibular aplasia, Microtia, third degree, Micrognathia, Bifid uvula, B... ORPHA:2554
Hutchinson-Gilford Progeria Syndrome
Cyanosis, Ventricular hypertrophy, Conductive hearing impairment, Left ventricular diastolic dysf... ORPHA:740
You-Hoover-Fong Syndrome
Vascular ring, Coarctation of aorta, Double aortic arch, Kyphoscoliosis, Microcephaly, Accessory ... OMIM:616954
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Conductive hearing impairment, Patellar dislocation, Talon cusp, Narrow palate, Ventricular septa... ORPHA:353281
Mucopolysaccharidosis, Type Ivb
Grayish enamel, Ovoid vertebral bodies, Hepatomegaly, Hearing impairment, Genu valgum, Ulnar devi... OMIM:253010
Hydrops Fetalis, Nonimmune
Anemia, Hydrops fetalis, Congestive heart failure, Nonimmune hydrops fetalis OMIM:236750
Schilbach-Rott Syndrome
Microtia, Micrognathia, Bifid uvula, Submucous cleft hard palate, Narrow mouth, Microcephaly, Pos... OMIM:164220
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Long philtrum, Microtia, Camptodactyly, Breast hypoplasia, Thin upper lip vermilion, Narrow mouth... OMIM:601353
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged... ORPHA:90646
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Patent ductus arteriosus, Aortic rupture, Polyhydramnios, Conductive hearing impairment, Tricuspi... OMIM:614557
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Hydrops fetalis, Reduced left ventricular ejection fraction, Abnorm... ORPHA:45452
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Female hypogonadism, Enamel hypoplasia, Tympanosclerosis, Hypothyroidism, Atrophic gastritis, Dec... OMIM:240300
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Ascending tubular aorta aneurysm, Multiple joint contractures, Micrognathia, Atlantoaxial disloca... ORPHA:536467
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Micrognathia, Short philtrum, Downturned corners of mouth, Short neck,... ORPHA:93267
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Long philtrum, Wide mouth, Microtia, Micrognathia, Oligodontia, Recurrent otitis media, Smooth ph... OMIM:602562
Hsd10 Disease, Infantile Type
Cyanosis, Frontotemporal cerebral atrophy, Optic atrophy, Diffuse cerebral atrophy, Hypertrophic ... ORPHA:391428
Alstrom Syndrome
Gingivitis, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Decreased response to growth ho... OMIM:203800
Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Patent foramen ovale, Decreased circulating free T4 concentration, Elevated circu... OMIM:225250
Immunodeficiency 42
Recurrent aphthous stomatitis, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Proteus-Like Syndrome
Splenomegaly, Mandibular prognathia, Hydrocephalus, Communicating hydrocephalus, Macrocephaly, Ve... ORPHA:2969
Zttk Syndrome
Flexion contracture, Optic atrophy, Bifid uvula, Cervical ribs, Intestinal atresia, Ventricular s... OMIM:617140
Van Der Woude Syndrome 2
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate OMIM:606713
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Comm... OMIM:616749
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Delayed cranial suture closure, Hypothyroidism, Micrognathia, Microdontia, Smooth philtrum, Throm... OMIM:620005
Pyle Disease
Genu valgum, Mandibular prognathia, Hypoplastic frontal sinuses, Delayed eruption of teeth, Absen... OMIM:265900
Opitz Gbbb Syndrome
Ectopic anus, Micrognathia, Thyroglossal cyst, Abnormal corpus callosum morphology, Dysphagia, Pr... ORPHA:2745
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Diabetes insipidus, Conductive hearing impairment, Sensorineural hearing impa... OMIM:618500
Maffucci Syndrome
Parathyroid adenoma, Neoplasm of the parathyroid gland, Neoplasm of the adrenal cortex, Multiple ... ORPHA:163634
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Hydrops fetalis, Sensorineural hearing impairment, Radioulnar synostosis, Hydrocele testi... OMIM:616738
Ring Chromosome 12 Syndrome
Hypothyroidism, Webbed neck, Microtia, Secundum atrial septal defect, Breast hypoplasia, Microcep... ORPHA:1439
Mccune-Albright Syndrome
Precocious puberty, Abnormal testis morphology, Hyperplasia of the Leydig cells, Bone marrow hypo... ORPHA:562
Landau-Kleffner Syndrome
Hyperactivity, Aggressive behavior, Social and occupational deterioration, Emotional lability, Im... ORPHA:98818
Fryns Syndrome
Polyhydramnios, Broad neck, Camptodactyly, Short neck, Hypoplasia of the optic tract, Cleft palat... OMIM:229850
Acrofacial Dysostosis, Cincinnati Type
Retrognathia, Patent ductus arteriosus, Macrotia, Anotia, Microtia, Micrognathia, Acetabular dysp... OMIM:616462
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Severely reduced left ventricular ejection fraction, Wolff-Parkinson-White syndrome, Le... ORPHA:444013
Bronchopulmonary Dysplasia
Premature birth, Hyperoxemia, Right ventricular failure, Right ventricular hypertrophy ORPHA:70589
Monosomy 18P
Abnormal antihelix morphology, Hypothyroidism, Macrotia, Webbed neck, Hypodontia, Micrognathia, S... ORPHA:1598
Oligomeganephronia
Premature birth, Micrognathia, Secundum atrial septal defect, Hypertension, Congenital diaphragma... ORPHA:2260
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Polyhydramnios, Conductive hearing impairment, Patellar dislocation, Micrognathia, Abnormal subcl... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Polyhydramnios, Conductive hearing impairment, Patellar dislocation, Micrognathia, Abnormal subcl... ORPHA:353277
Say Syndrome
Cleft palate, Micrognathia, Macrotia OMIM:181180
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Abnormal aortic morphology, Hydrops fetalis, Anemia, Ventricular septal defect, A... ORPHA:3405
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar hypoplasia, Cerebral hypoplasia, Neuronal loss in the cerebral cortex, Aplasia/Hypopla... ORPHA:168486
Apert Syndrome
Delayed cranial suture closure, Humeroradial synostosis, Delayed eruption of teeth, Ectopic anus,... OMIM:101200
Fanconi Anemia, Complementation Group F
Sacral dimple, Patent ductus arteriosus, Polyhydramnios, Conductive hearing impairment, Decreased... OMIM:603467
Stickler Syndrome, Type I
Conductive hearing impairment, Sensorineural hearing impairment, Pierre-Robin sequence, Kyphosis,... OMIM:108300
Mucopolysaccharidosis Type 2
Conductive hearing impairment, Optic atrophy, Hip osteoarthritis, Hepatomegaly, Papilledema, Ging... ORPHA:580
Trichohepatoenteric Syndrome 1
Polyhydramnios, Splenomegaly, Abnormalities of placenta or umbilical cord, Long philtrum, Villous... OMIM:222470
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Anemia, Webbed neck, Anotia, Microtia, Esophageal atresia, Micrognathia, Cere... OMIM:614083
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Pierre-Robin sequence, Sensorineural hearing impairment, Premature osteoarthritis, Platyspondyly,... OMIM:184840
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Patent foramen ovale, Splenomegaly, Pulmonic stenosis, Hypersple... OMIM:616028
8P23.1 Microdeletion Syndrome