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Gene: Chrd MGI:1313268

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
Thin upper lip vermilion, Cleft palate, Malar flattening, Truncus arteriosus, Smooth philtrum OMIM:611867
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Hypoplasia of the thymus, High palate, Con... ORPHA:861
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thoracic scoliosis, Polyhydramnios, Micrognathia, Downturned corners of mouth, Ga... OMIM:620186
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High ... OMIM:609029
Emanuel Syndrome
Multiple joint contractures, Congenital hip dislocation, Dental crowding, Congenital diaphragmati... ORPHA:96170
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Pierre Robin Syndrome
Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis OMIM:261800
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Diabetic Embryopathy
Micrognathia, Abnormality of the neck, Vertebral segmentation defect, Aplasia/Hypoplasia of the c... ORPHA:1926
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Verheij Syndrome
Branchial cyst, Vertebral fusion, Thin upper lip vermilion, Ventricular septal defect, Optic nerv... OMIM:615583
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Short neck, Micrognathia, High, narrow palate, Cleft palate, Abnormal ... ORPHA:2516
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Micrognathia, Abnormal aortic arch morphology, Conotruncal defect, Anotia,... ORPHA:2306
Fg Syndrome Type 1
Dental crowding, Micrognathia, Fused teeth, High palate, Gastroesophageal reflux, Atrial septal d... ORPHA:93932
Double Outlet Right Ventricle
Hypoparathyroidism, Ventricular septal defect, Intestinal malrotation, Abnormality of cartilage o... ORPHA:3426
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Fe... OMIM:619503
Branchiootorenal Syndrome 1
Branchial cyst, Congenital hip dislocation, High palate, Conductive hearing impairment, Microdont... OMIM:113650
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:172880
Holoprosencephaly-Postaxial Polydactyly Syndrome
Adrenal hypoplasia, Micrognathia, Polyhydramnios, Orofacial cleft, Holoprosencephaly, Abnormality... ORPHA:2166
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Cleft palate, Webbed neck, Hydranencephaly, Truncus arteriosus OMIM:601355
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Short neck, Micrognathia, Cleft palate ORPHA:2015
22Q11.2 Deletion Syndrome
Polyhydramnios, Short neck, Micrognathia, Anorectal anomaly, Abnormal aortic arch morphology, Hyp... ORPHA:567
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Congenital hip dislocation, Adrenal hypoplasia, Micrognathia, Hearing impairment, Cleft upper lip... OMIM:308050
Trisomy 13
High, narrow palate, Hydrops fetalis, Atrial septal defect, Cryptorchidism, Patent ductus arterio... ORPHA:3378
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Polyhydramnios, Posterior ... OMIM:265380
Skraban-Deardorff Syndrome
Ventricular septal defect, Micrognathia, Absent cupid's bow, Cleft palate, Right aortic arch, Wid... OMIM:617616
Oculoauriculofrontonasal Syndrome
Encephalocele, Pericallosal lipoma, Ventricular septal defect, Microcephaly, Micrognathia, Cleft ... ORPHA:398156
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Right aortic arch, Transp... OMIM:231060
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis, Microcephaly, Micrognathia, Dermatographic urticaria, Microtia, High pala... OMIM:248910
Pallister-Hall Syndrome
Adrenal hypoplasia, Hemivertebrae, Gonadotropin deficiency, Holoprosencephaly, Atrial septal defe... ORPHA:672
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... ORPHA:50815
Lateral Meningocele Syndrome
Decreased muscle mass, Bicuspid aortic valve, Dental crowding, Short neck, Micrognathia, High pal... OMIM:130720
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Attached earlobe, Sacral dimple, Low-set, posteriorly rotated ears, Scapul... ORPHA:1327
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Beaded ribs, Short neck, Micrognathia, Cardiomegaly, Flexion contracture, Hydrops... OMIM:616897
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Monosomy 22
Low-set, posteriorly rotated ears, Aplasia of the thymus, Short neck, Hypochromic microcytic anem... ORPHA:96123
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Short neck, Cryptorchid... ORPHA:1703
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Ventricular septal defect, Micrognathia, Microcephaly, Abnormality o... ORPHA:513456
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Hypoplasia of the maxilla, Optic atrophy, Simplified gyral pattern, Ce... OMIM:614261
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Auriculocondylar Syndrome 2A
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Nar... OMIM:614669
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Micrognathia, Conical tooth, Supernumerary tooth, Sensorineural hearing impairment, Abnormal cran... ORPHA:90024
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect, Absent tragus, Micrognathia, Hypoplasia of the maxilla, Accessory oral fren... ORPHA:79113
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Gastrointestinal dysmotility, Downturned corners of mouth, Vertebral segme... ORPHA:453499
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Microcephaly, Vertebr... ORPHA:521445
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Polyhydramnios, Micrognathia, Atrial septal defect, Atrioventricular canal de... ORPHA:3047
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Pineal cyst, L... OMIM:617516
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate, Micrognathia ORPHA:718
Distal Deletion 17Q
Low-set, posteriorly rotated ears, Hepatomegaly, Prominent metopic ridge, Premature birth, Abnorm... ORPHA:1597
14Q24.1Q24.3 Microdeletion Syndrome
Thin upper lip vermilion, Atrial septal defect, Ventricular septal defect, Intestinal malrotation... ORPHA:401935
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Atrial septal defect, Branchial fistula, Premature birth, Hyperlordosis, Nar... ORPHA:261330
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Microretrognathia, Low-set, posteriorly rotated ears, Camptodactyly of finger, Short neck, Microc... ORPHA:2994
Mosaic Trisomy 9
Polyhydramnios, Short neck, Micrognathia, Asplenia, Hemivertebrae, Hydrops fetalis, High palate, ... ORPHA:99776
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Lateral Meningocele Syndrome
Dental crowding, Short neck, Micrognathia, High, narrow palate, Abnormal form of the vertebral bo... ORPHA:2789
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Gm1 Gangliosidosis
Mandibular prognathia, Hydrops fetalis, Abnormal form of the vertebral bodies, Encephalomalacia, ... ORPHA:354
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Horner syndrome, Microt... OMIM:141300
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Polyhydramnios, Situs inversus totalis, Conductive hearing impa... ORPHA:199302
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Oral ulcer, Lymph... OMIM:602450
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Short neck, Micrognathia, Abnor... ORPHA:508498
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Torticollis, Stiff neck, Microgn... OMIM:617022
Holoprosencephaly
Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Deep philtrum, Abnormal f... ORPHA:2162
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Gastrointestinal dysmo... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Gastrointestinal dysmo... ORPHA:352665
Bor Syndrome
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... ORPHA:107
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Craniosynostosis, Micrognathia, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Cerebral... ORPHA:171839
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Posteriorly rotated ears, Miscarriage, Micrognathia, Short neck, Cryptorchidism, M... ORPHA:1865
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Cerebellar vermis hypoplasia, Short neck, Micrognathia, Glossoptosis, Vertebr... OMIM:611209
Charge Syndrome
Decreased response to growth hormone stimulation test, Polyhydramnios, Micrognathia, Secundum atr... OMIM:214800
Nuchal Bleb, Familial
Stillbirth, Cystic hygroma, Fetal cystic hygroma OMIM:257350
8Q24.3 Microdeletion Syndrome
Branchial cyst, Thoracic scoliosis, Ectopic posterior pituitary, Congenital hip dislocation, Shor... ORPHA:508488
7Q31 Microdeletion Syndrome
Atrial septal defect, Skeletal muscle atrophy, Torticollis, Hypoplasia of the maxilla, Hypoplasia... ORPHA:251061
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Abnormal mitral valve morphology, Micrognathia, Microcephaly, ... ORPHA:1131
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Death in infancy, Nonimmune hydrops fetalis, Microcephaly, Micrognathia, Splenomega... OMIM:608540
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Abnormal aor... ORPHA:860
Classic Multiminicore Myopathy
Mandibular prognathia, Microretrognathia, Absent muscle fiber merosin, Multiple joint contracture... ORPHA:324604
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Short neck, Large fleshy ears, High palate, Gastroesophageal reflux, ... ORPHA:280633
Acrocraniofacial Dysostosis
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Craniosynostosis, Micrognathia, Mic... ORPHA:949
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Micrognathia, Anteverted ears, Conical tooth, Aplasia of the inner ear, Widely spaced teeth, Peg-... OMIM:610706
Alg3-Cdg
Abnormality of the gastrointestinal tract, Cerebral white matter atrophy, Abnormal pinna morpholo... ORPHA:79321
Atelis Syndrome 1
Glue ear, Ventricular septal defect, Carious teeth, Thrombocytopenia, Lumbar kyphosis, Leukopenia... OMIM:620184
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Oligodontia, Protein-losing ente... OMIM:235510
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Prominent superficial blood v... OMIM:619472
Digeorge Syndrome
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia... OMIM:188400
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Posteriorly rotated ears, Kyphoscoliosis, Micrognathia, Precocious pub... ORPHA:447980
Hypothyroidism Due To Tsh Receptor Mutations
Edema, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioact... ORPHA:90673
Trisomy 8P
Multiple joint contractures, Abnormal atrioventricular connection, Short neck, Fetal pyelectasis,... ORPHA:264450
Chondrodysplasia, Blomstrand Type
Premature birth, Polyhydramnios, Micrognathia, Fetal ascites, Advanced ossification of carpal bon... OMIM:215045
Branchiootic Syndrome
Branchial fistula, Facial palsy, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnorma... ORPHA:52429
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Polyhydramnios, Micrognathia, Partial agenesis of the corpus callosum, Craniofac... OMIM:300373
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Delayed cranial suture closure, Decreased circulatin... ORPHA:90674
Branchiootic Syndrome 1
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... OMIM:602588
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Mandibular prognathia, Branchial cyst, Thin upper lip vermilion, Dental crowding, Ankle flexion c... ORPHA:435938
Trisomy 1Q
Microretrognathia, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic h... ORPHA:261344
Distal Triplication 15Q
Micrognathia, Flexion contracture, High palate, Atrial septal defect, Dandy-Walker malformation, ... ORPHA:314588
Sialidosis Type 2
Skeletal muscle atrophy, Hepatomegaly, Kyphosis, Splenomegaly, Flexion contracture, Hydrops fetal... ORPHA:87876
Fibrochondrogenesis 1
Short neck, Hydrops fetalis, Patent foramen ovale, Widely patent sagittal suture, Posterior verte... OMIM:228520
Monosomy 18Q
Mandibular prognathia, Bilateral cryptorchidism, Secundum atrial septal defect, Diffuse white mat... ORPHA:1600
Velocardiofacial Syndrome
Hypoparathyroidism, Ventricular septal defect, Microcephaly, Cryptorchidism, Velopharyngeal insuf... OMIM:192430
3-Hydroxyisobutyric Aciduria
Cerebral calcification, Hypogonadotropic hypogonadism, Microcephaly, Micrognathia, Aplasia/Hypopl... ORPHA:939
Fryns Syndrome
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Short neck, Polyhydram... ORPHA:2059
Catifa Syndrome
Delayed eruption of teeth, Cleft lip, Cleft palate, Mild microcephaly, Microtia, Increased overbi... OMIM:618761
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Short neck, Micrognathia, Abnormality of the spleen, Anorectal a... ORPHA:1834
Vitamin K Antagonist Embryofetopathy
Short neck, Myelomeningocele, Hydrocephalus, Punctate vertebral calcifications, Optic atrophy, Ma... ORPHA:1914
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c... OMIM:265000
Femoral-Facial Syndrome
Thin upper lip vermilion, Maternal diabetes, Micrognathia, Cryptorchidism, Abnormal sacrum morpho... ORPHA:1988
Auriculocondylar Syndrome 1
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Nar... OMIM:602483
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect, Cleft lip, Cleft... OMIM:616898
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Cerebral calcification, Posteriorly rotated ears, Facial palsy, Microg... ORPHA:2780
Au-Kline Syndrome
Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Gastroesoph... OMIM:616580
Isotretinoin Syndrome
Sacral dimple, Micrognathia, Cleft palate, Microtia, Biparietal narrowing, Spina bifida occulta, ... ORPHA:2305
Tarp Syndrome
Cerebellar vermis hypoplasia, Micrognathia, Glossoptosis, Premature rupture of membranes, High pa... OMIM:311900
22Q11.2 Duplication Syndrome
Ventricular septal defect, Microcephaly, Micrognathia, Cleft palate, Anterior creases of earlobe,... ORPHA:1727
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Ventricular septal defect, Microcephaly, Nephrogenic diabetes insipidus, Microg... OMIM:208085
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Polyhydramnios, Flexion contracture, Congenital pyloric atresia, Microtia, Macrocephaly, Neonatal... OMIM:612138
Sweeney-Cox Syndrome
Uplifted earlobe, Micrognathia, Bilateral cryptorchidism, Asplenia, Polyhydramnios, High palate, ... OMIM:617746
Catel-Manzke Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Micrognathia, Cleft palate, Glossop... ORPHA:1388
Hypertelorism, Microtia, Facial Clefting Syndrome
Microcephaly, Micrognathia, Cleft upper lip, Cleft palate, Abnormal heart morphology, Small thena... OMIM:239800
Achondrogenesis Type 1B
Thickened nuchal skin fold, Polyhydramnios, Micrognathia, Short neck, Abnormal rib morphology, Hy... ORPHA:93298
Meier-Gorlin Syndrome 8
Micrognathia, Bilateral cryptorchidism, Microtia, Thick vermilion border, Low-set ears, Narrow mo... OMIM:617564
Acitretin/Etretinate Embryopathy
Aplasia/Hypoplasia of the maxilla, Premature birth, Micrognathia, Microcephaly, Cupped ear, Antec... ORPHA:40366
Achondrogenesis, Type Ib
Edema, Polyhydramnios, Breech presentation, Hydrops fetalis, Stillbirth, Umbilical hernia, Short ... OMIM:600972
Opitz-Kaveggia Syndrome
Multiple joint contractures, Dental crowding, Micrognathia, Short neck, Partial agenesis of the c... OMIM:305450
Acrocardiofacial Syndrome
Joint dislocation, Death in infancy, Hyperthyroidism, Mitral stenosis, Ventricular septal defect,... ORPHA:2008
Charge Syndrome
Polyhydramnios, Aqueductal stenosis, Hemivertebrae, Hypoplasia of the semicircular canal, Gastroe... ORPHA:138
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Jejunal atresia, Polyhydramnios, High, narrow palate, Narrow palate, Secondary microcephaly, Darw... OMIM:612949
Phaver Syndrome
Posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Myelomeningocele, A... ORPHA:2876
Achondrogenesis Type 1A
Thickened nuchal skin fold, Multiple rib fractures, Polyhydramnios, Micrognathia, Short neck, Hyd... ORPHA:93299
Achondrogenesis
Thickened nuchal skin fold, Polyhydramnios, Micrognathia, Short neck, Hydrops fetalis, Macrocepha... ORPHA:932
Glycine Encephalopathy 1
Death in infancy, Hyperactivity, Restlessness, Impulsivity, Aggressive behavior, Irritability OMIM:605899
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Thin upper lip vermilion, Overriding aorta, Cyanosis, Microcephaly, Microgn... ORPHA:3304
Wilson-Turner Syndrome
Thin upper lip vermilion, Hypogonadotropic hypogonadism, Uplifted earlobe, Malar prominence, Micr... ORPHA:3459
Microphthalmia, Syndromic 9
Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, C... OMIM:601186
Parc Syndrome
Microretrognathia, Cleft palate OMIM:600331
Distal Xq28 Microduplication Syndrome
Predominantly lower limb lymphedema, Epistaxis, Short lingual frenulum, Microcephaly, Hypoplasia ... ORPHA:293939
Alg9-Cdg
Villous atrophy, Short neck, Micrognathia, Hydrops fetalis, Large fleshy ears, Right ventricular ... ORPHA:79328
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Micrognathia, Short neck, Narrow mouth, Partial agenesis of the corpus callosum, Macrotia, Narrow... OMIM:620250
Greenberg Dysplasia
Polyhydramnios, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Hydrops fetalis, Hypoplasti... OMIM:215140
Warsaw Breakage Syndrome
Ventricular septal defect, Cutis marmorata, Microcephaly, Hypoplasia of the cochlea, Cupped ear, ... OMIM:613398
Toriello-Carey Syndrome
Micrognathia, Short neck, Partial agenesis of the corpus callosum, Anteriorly placed anus, Anotia... ORPHA:3338
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Micrognathia, Abnormal rib morphology, Oligohydramnios, Cleft palate, Abnormal ... ORPHA:2145
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Thin upper lip vermilion, Sacral dimple, Ventricular septal defect, Limb joint contracture, Short... ORPHA:505237
Adams-Oliver Syndrome 6
Splenomegaly, Truncus arteriosus, Esophageal varix, Ventricular septal defect OMIM:616589
Zechi-Ceide Syndrome
Mandibular prognathia, Atrial septal defect, Cerebellar vermis hypoplasia, Cleft lip, Abnormal ea... ORPHA:217017
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Aplasia of the thymus, Malabsorption, Thyroidit... ORPHA:83471
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Conductive hearing impairment, ... ORPHA:794
Van Esch-O'Driscoll Syndrome
Sacral dimple, Hypogonadotropic hypogonadism, Ventricular septal defect, Microcephaly, Esophageal... OMIM:301030
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Cyanosis, Hypogonadotropic hypogonadism, Short lingual frenulum, Anomalous ... ORPHA:2326
De Barsy Syndrome
Decreased muscle mass, Cerebellar vermis hypoplasia, Congenital hip dislocation, Prominent veins ... ORPHA:2962
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, Short neck, Cardiomegaly, M... OMIM:245600
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Micrognathia, Protruding ear, Webbed neck, High palate, Biparietal narrowi... ORPHA:261337
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroid gland, Non-midlin... ORPHA:3429
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Thoracolumbar kyphosis, Flexion contracture, Hydrops fetalis, Widely ... OMIM:253220
Van Maldergem Syndrome 1
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Simplif... OMIM:601390
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Cognitive impairment OMIM:238700
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Microcephaly, Cryptorch... ORPHA:1166
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... ORPHA:199306
Johnson Neuroectodermal Syndrome
Facial palsy, Microcephaly, Carious teeth, Cleft palate, Protruding ear, Microtia, Hypogonadism, ... ORPHA:2316
Even-Plus Syndrome
Short neck, Dysplastic corpus callosum, Patent foramen ovale, Vertebral clefting, Coronal cleft v... OMIM:616854
Cowden Syndrome 5
Colonic diverticula, Hyperthyroidism, Hearing impairment, Micrognathia, Hypoplasia of the maxilla... OMIM:615108
Van Maldergem Syndrome 2
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Anterio... OMIM:615546
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Lumbar hyperlordosis, Calf muscle pseudohypertrophy, Abnormal macrophage morpho... ORPHA:353
Fetal Gaucher Disease
Low-set, posteriorly rotated ears, Hepatomegaly, Pancytopenia, Decreased fetal movement, Death in... ORPHA:85212
Infantile Sialic Acid Storage Disease
Hepatomegaly, Premature birth, Cardiomegaly, Splenomegaly, Hydrocephalus, Congestive heart failur... OMIM:269920
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Redundant neck skin, Polyhydramnios, Short nec... ORPHA:96334
Heart And Brain Malformation Syndrome
Attached earlobe, Cerebellar vermis hypoplasia, Polyhydramnios, High, narrow palate, Gastroesopha... OMIM:616920
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Hydrocephalus, Tracheoe... ORPHA:268249
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Fa... ORPHA:95716
Oculoauriculovertebral Spectrum With Radial Defects
Maternal diabetes, Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abno... ORPHA:2549
Hartnup Disorder
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Atrial septal defect, Hypoplasia of the maxilla, Narrow mouth, Mi... ORPHA:261295
Weaver-Williams Syndrome
Protruding ear, Cleft palate, Narrow mouth ORPHA:3448
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... OMIM:609166
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Decreased fetal movement, Facial palsy, Polyhydramnios, Centrally nuclea... OMIM:255320
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia, Micrognathia, Short philtrum, Bifid uvula, Facial palsy, Cleft l... OMIM:301022
Cowden Syndrome 6
Colonic diverticula, Hyperthyroidism, Hearing impairment, Micrognathia, Hypoplasia of the maxilla... OMIM:615109
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the ribs, Lumbar hyperlordosis, Abnormal pinna morphology, Camptodactyly of... ORPHA:2839
Cutis Laxa, Autosomal Recessive, Type Ic
Adrenal hypoplasia, Micrognathia, Morgagni diaphragmatic hernia, Periorbital edema, Rectal prolap... OMIM:613177
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Polyhydramn... OMIM:312870
Tetrasomy 15Q26
Microretrognathia, Kyphoscoliosis, Hydrocephalus, Cupped ear, Patent ductus arteriosus, Hypoplast... OMIM:614846
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Polyhydramnios, Short neck, Deep philtrum, Webbed neck, High palate, Widely spaced teeth, Atrial ... OMIM:617506
Fetal Akinesia Deformation Sequence 2
Tented upper lip vermilion, Micrognathia, Cryptorchidism, Cleft palate, High palate, Low-set ears... OMIM:618388
Synaptic Congenital Myasthenic Syndromes
Mandibular prognathia, Skeletal muscle atrophy, Scapular winging, Abnormality of the knee, Facial... ORPHA:98915
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Short neck, Cardiomegaly, Deep philtrum, Flat acetabular roof, Hypertension, Mi... OMIM:613320
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... OMIM:301040
Arthrogryposis, Distal, Type 1C
Pursed lips, Short neck, Cleft lip, Increased nuchal translucency, Cryptorchidism, Cleft palate, ... OMIM:619110
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Camptodactyly of finger, Mastocytosis, Microcephaly, Micrognathia, Er... ORPHA:2135
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Orofacial cleft, High palate, Gastroesophageal reflux, Conductive hearing ... OMIM:607872
Mulibrey Nanism
Hepatomegaly, Dental crowding, Cardiomegaly, Absent frontal sinuses, Congestive heart failure, Hy... OMIM:253250
Nabais Sa-De Vries Syndrome, Type 2
Posteriorly rotated ears, Polyhydramnios, Micrognathia, Bilateral cleft lip and palate, Protrudin... OMIM:618829
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Goiter, Right aortic arch, Hypothyroidism, Hearing impairment OMIM:617577
Alg8-Cdg
Abnormality of the gastrointestinal tract, Abnormality of subcutaneous fat tissue, Premature birt... ORPHA:79325
Lambert Syndrome
Ventricular septal defect, Jaundice, Wide mouth, Branchial anomaly, Aplasia/Hypoplasia of the cer... ORPHA:1296
Acrocephalopolydactyly
Genu recurvatum, Short neck, Hepatosplenomegaly, Microtia, Cystic hygroma ORPHA:221054
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Septo-optic dysplasia, Polyhydramnios, Micrognathia, Missing ribs,... ORPHA:3301
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Diastasis recti, Kyphoscoliosis, Micrognathia, Hypoplasi... OMIM:608149
Myhre Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Atrial septal defec... OMIM:139210
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Conotruncal defect, Cleft palate, Anotia, Microtia OMIM:243440
Deafness, Conductive, With Malformed External Ear
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Hypogonadism, Low-set ears, Co... OMIM:221300
Rubinstein-Taybi Syndrome 1
Dental crowding, Premature thelarche, Micrognathia, Bilateral cryptorchidism, Hypoplasia of the m... OMIM:180849
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... ORPHA:137888
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Torticollis, Abnormal mandible morphology, Cleft palate OMIM:217150
Mesomelic Limb Shortening And Bowing
Retrognathia, Cleft palate, Micrognathia OMIM:249710
Cowden Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Hamartomatous polyposis, High palate, Hypothyroidism, Hy... OMIM:158350
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Sinusitis, Apl... OMIM:102700
Scimitar Syndrome
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... ORPHA:185
Intellectual Developmental Disorder, Autosomal Dominant 21
Posteriorly rotated ears, Narrow mouth, Patent ductus arteriosus, Cryptorchidism, Cleft palate, C... OMIM:615502
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Polyhydramnios, Micrognathia, Short neck, Flexion contracture, Hydrops fetalis, Knee flexion cont... OMIM:300868
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Low-set, posteriorly rotated ears, Overriding aorta, Microcephaly, Carious... ORPHA:1110
Contractures-Developmental Delay-Pierre Robin Syndrome
Atrial septal defect, Thoracolumbar scoliosis, Micrognathia, High, narrow palate, Cleft palate, G... ORPHA:436003
Mucopolysaccharidosis Type 3
Cardiomegaly, Adenoiditis, Flexion contracture, Atrioventricular block, Abnormal form of the vert... ORPHA:581
Fetal Akinesia Deformation Sequence 1
Decreased muscle mass, Elbow contracture, Polyhydramnios, Micrognathia, Short neck, High, narrow ... OMIM:208150
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Microcephaly, Cryptorchidism, Increased circulating gonadotropin ... ORPHA:163976
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Ventricular septal defect, Microcephaly, Partial agenesis of the corp... OMIM:617478
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Short neck, Protruding ear, High pala... OMIM:612474
Intellectual Developmental Disorder, Autosomal Dominant 43
Attached earlobe, Thin upper lip vermilion, Microcephaly, Narrow mouth, Gingival overgrowth, Micr... OMIM:616977
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplas... OMIM:616367
Perching Syndrome
Cyanosis, Dysphagia, High palate, Scoliosis, Camptodactyly, Joint contracture OMIM:617055
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Supernumerary ni... OMIM:612530
Craniofacial Microsomia 1
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Anotia, Conducti... OMIM:164210
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Relative macrocephaly, Posteriorly rotated ears, Decreased response to growth hormone stimulation... OMIM:618336
Turnpenny-Fry Syndrome
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Polyhydramnios, Downturned ... OMIM:618371
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Subcortical heterotopia, Partial agenesis of the corpus callosum, Hypoplasia of the brainstem, De... OMIM:614643
Congenital Heart Block
First degree atrioventricular block, Atrioventricular block, Hydrops fetalis, Vaginal birth after... ORPHA:60041
Short Stature And Facioauriculothoracic Malformations
Abnormal odontoid process morphology, Ventricular septal defect, Short neck, Microcephaly, Cleft ... OMIM:609654
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Short neck, Micrognathia, Partial agenesis of the corpus callosum, ... OMIM:210710
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, Hemivertebrae, Protruding ear,... OMIM:156200
Gm1 Gangliosidosis Type 1
Diffuse cerebral atrophy, Spatulate ribs, T2 hypointense basal ganglia, Diffuse white matter abno... ORPHA:79255
Schneckenbecken Dysplasia
Ovoid vertebral bodies, Anterior rib cupping, Short neck, Polyhydramnios, Nonimmune hydrops fetal... OMIM:269250
Difference Of Sex Development-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Short neck, Kyphosis, Genu valgum, Downturned corners of mouth... ORPHA:2983
Transaldolase Deficiency
Edema, Thrombocytopenia, Hydrops fetalis, Hepatosplenomegaly, Telangiectasia, Biventricular hyper... ORPHA:101028
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Cupped ear, Cleft palate, Narrow mouth, Atrial septal defect, Malar flattening ORPHA:93946
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Micrognathia, Alobar holoprosencephaly, Gastroesophageal reflux, Thoracic ... OMIM:301043
Cranioectodermal Dysplasia 2
Polyhydramnios, Micrognathia, Short neck, Hydrops fetalis, Ectodermal dysplasia, Fused teeth, Hig... OMIM:613610
Congenital Myopathy 22B, Severe Fetal
Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Polyhydramnios, Short neck, Micr... OMIM:620369
Tetrasomy 5P
Pericallosal lipoma, Cyanosis, Posteriorly rotated ears, Redundant neck skin, Micrognathia, Short... ORPHA:3309
Distal Deletion 12Q
Short neck, Micrognathia, High, narrow palate, Patent foramen ovale, Long philtrum, Wide anterior... ORPHA:96149
Hemifacial Microsomia With Radial Defects
Non-midline cleft lip, Cleft palate, Orofacial cleft, Microtia, Atresia of the external auditory ... OMIM:141400
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Micrognathia, Cardiomegaly, Neonatal death, Hepatomegaly, Premature birth, Nonimm... OMIM:608013
Tarp Syndrome
Extramedullary hematopoiesis, Micrognathia, Glossoptosis, Atrial septal defect, Small earlobe, Lo... ORPHA:2886
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft lip, Cleft palate, Protruding ear, Decreased testicular size, Hearing impairment ORPHA:85273
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Abnormality of the dentition, Cleft palate, Micrognathia ORPHA:3104
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vertebral bodies, Downturned ... ORPHA:280
Cerebrofacioarticular Syndrome
Irregular dentition, Anal stenosis, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the... ORPHA:314679
Down Syndrome
Prenatal double bubble sign, Redundant neck skin, Atrial septal defect, Conductive hearing impair... OMIM:190685
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Polyhydramnios, Micrognathia, Patent ductus arteriosus, Duodenal stenosi... ORPHA:2547
Loeys-Dietz Syndrome 5
Decreased muscle mass, Tented upper lip vermilion, Osteoarthritis, High palate, Atrial septal def... OMIM:615582
Braddock-Carey Syndrome 2
Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory canal, Retrogna... OMIM:619981
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... OMIM:616331
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Sacral dimple, Aganglionic megacolon, Polyhydramnios, M... OMIM:613603
Split-Hand/Foot Malformation 3
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Cleft palate, High palat... OMIM:246560
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Micrognathia, Hypoplasia of the brainstem, Congenital contracture, Pachy... OMIM:236670
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corp... OMIM:615948
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dental crowding, Cardiomegaly, High, narrow palate, Pineal cyst, Increased head circumference, Ga... OMIM:300967
Lymphatic Malformation 6
Edema, Micrognathia, Facial edema, Lymphedema, Polyhydramnios, Periorbital edema, Gastroesophagea... OMIM:616843
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Posteriorly rotated ears, Microcephaly, Cleft lip, Narrow mouth, Cleft palate, Downturned corners... OMIM:618089
Gm1-Gangliosidosis, Type I
Hepatomegaly, Death in infancy, Thickened ribs, Abnormal heart valve morphology, Short neck, Kyph... OMIM:230500
Mgat2-Cdg
Low-set, posteriorly rotated ears, Impaired lymphocyte transformation with phytohemagglutinin, Po... ORPHA:79329
Klippel-Feil Syndrome 2, Autosomal Recessive
Abnormal pinna morphology, Ventricular septal defect, Cleft upper lip, Short neck, Sensorineural ... OMIM:214300
6Q16 Microdeletion Syndrome
Abnormal ear morphology, Micrognathia, Microtia, Low-set ears, Macrocephaly, Retrognathia ORPHA:171829
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Death in infancy, Ventricular septal defect, Microcephaly, Nephrogenic diabetes ins... OMIM:613404
Hennekam Syndrome
Abnormal oral mucosa morphology, Lymphedema, Hydrops fetalis, Short philtrum, Conductive hearing ... ORPHA:2136
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Camptodactyly of finger, Supernumerary nipple, Micrognathia, N... ORPHA:246
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Death in infancy, Fetal akinesia sequence, Cryptorchidism, Dilated cardiomyopathy, Flexion contra... OMIM:618815
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Micrognathia, Sensorineural hearing impairment, Cleft palate, Glossoptosis, Long philtrum, Malar ... ORPHA:166100
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching, Microcephaly OMIM:107500
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Hig... OMIM:224690
Neuraminidase Deficiency
Skeletal muscle atrophy, Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Facial edema, Spleno... OMIM:256550
Treacher Collins Syndrome 3
Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair... OMIM:248390
Abruzzo-Erickson Syndrome
Hearing impairment, Macrotia, Cleft palate, Protruding ear OMIM:302905
Peters Plus Syndrome
Polyhydramnios, Short neck, Micrognathia, Bicuspid pulmonary valve, Webbed neck, Abnormal pulmona... ORPHA:709
Diprosopus
External ear malformation, Non-midline cleft lip, Anencephaly, Cleft palate, Abnormal cardiac sep... ORPHA:1681
Pendred Syndrome
Hyperparathyroidism, Sensorineural hearing impairment, Abnormality of the inner ear, Vertigo, Hyp... ORPHA:705
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Abnormal carpal morphology, Hydrops fetalis, Cleft palate, Platyspondyly, Low-set... ORPHA:85166
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Cleft upper lip, Micrognat... OMIM:612561
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Edema, Microcephaly,... ORPHA:90308
Congenital Myasthenic Syndrome
Congenital hip dislocation, Polyhydramnios, Limb-girdle muscle weakness, High palate, Gastroesoph... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Congenital hip dislocation, Polyhydramnios, Limb-girdle muscle weakness, High palate, Gastroesoph... ORPHA:98914
Coxoauricular Syndrome
Microtia, Hip dislocation, Hearing impairment OMIM:122780
Yunis-Varon Syndrome
Redundant neck skin, Polyhydramnios, Micrognathia, Cardiomegaly, High, narrow palate, Hydrops fet... ORPHA:3472
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Aqueductal stenosis, Asplenia, Dextrotr... OMIM:306955
Microcephaly 6, Primary, Autosomal Recessive
Small cerebral cortex, Microtia, Microcephaly OMIM:608393
Vacterl With Hydrocephalus
Absence of the sacrum, Microtia, third degree, Spina bifida, Micrognathia, Aqueductal stenosis, C... ORPHA:3412
Distal Deletion 15Q
Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, Abnormal aortic arch morpho... ORPHA:1596
Branchiooculofacial Syndrome
Short neck, Micrognathia, Premature graying of hair, Gastroesophageal reflux, Conductive hearing ... OMIM:113620
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Thickened nuchal skin fold, Cerebellar vermis hypoplasia, Limb joint contracture, Ankle flexion c... ORPHA:284417
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Femoral-Facial Syndrome
Maternal diabetes, Micrognathia, Limited elbow movement, Hemivertebrae, Gastroesophageal reflux, ... OMIM:134780
Blomstrand Lethal Chondrodysplasia
Natal tooth, Premature birth, Polyhydramnios, Protruding tongue, Micrognathia, Hydrops fetalis, C... ORPHA:50945
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Otosclerosis, Thin upper lip vermilion, Decreased response to growth hormo... ORPHA:529962
Congenital Disorder Of Deglycosylation 2
Sacral dimple, Cerebellar vermis hypoplasia, Genu recurvatum, Hamartoma of tongue, Micrognathia, ... OMIM:619775
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Natal tooth, Abnormal pinna morphology, Hamartoma of tongue, Short neck, Micr... OMIM:617925
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Thoracic scoliosis, Ventricular septal defect, Megalencephaly, Kyphosis,... OMIM:603387
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Cleft palate, Thin vermilion border, Overfolded helix, Retrogn... ORPHA:2631
Achondrogenesis, Type Ii
Microretrognathia, Absent vertebral body mineralization, Edema, Polyhydramnios, Hydrops fetalis, ... OMIM:200610
Cousin Syndrome
Micrognathia, Short neck, Prominent protruding coccyx, Wrist flexion contracture, Dislocated radi... OMIM:260660
Tetraamelia Syndrome 2
Microretrognathia, Absent nipple, Ventricular septal defect, Bilateral cleft lip, Micrognathia, H... OMIM:618021
Weiss-Kruszka Syndrome
Prominent metopic ridge, Bicuspid aortic valve, Ventricular septal defect, Hearing impairment, Ex... OMIM:618619
Combined Oxidative Phosphorylation Defect Type 27
Diffuse cerebral atrophy, Nonimmune hydrops fetalis, Ragged-red muscle fibers, Abnormal cerebral ... ORPHA:477774
Chromosome 18Q Deletion Syndrome
Mandibular prognathia, Decreased response to growth hormone stimulation test, Short neck, Downtur... OMIM:601808
Split-Foot Deformity With Mandibulofacial Dysostosis
Malar flattening, Cleft palate, Micrognathia OMIM:183700
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Microtia, Postnatal macrocephaly, Gastroesophageal reflux, Periventricular white matter hyperinte... OMIM:618158
Fontaine Progeroid Syndrome
Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Micrognathia, High, n... OMIM:612289
Microphthalmia, Syndromic 2
Anteverted ears, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect, Contracture... OMIM:300166
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Cerebellar vermis hypoplasia, Edema, Flexion contracture, Abnormality of the amn... OMIM:212065
Primary Pulmonary Hypoplasia
Cyanosis, Dextrocardia, Abnormal hemidiaphragm morphology, Microcephaly, Secundum atrial septal d... ORPHA:2257
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Broad neck, Short neck, Cryptorchidism, Narrow philtrum, Cuboid-shaped vertebral bodies, Thick lo... ORPHA:163654
1P36 Deletion Syndrome
Abnormality of the spleen, Abnormality of the neck, Gastroesophageal reflux, Conductive hearing i... ORPHA:1606
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect, Microcephaly, Micrognathia, Esophageal atresia, ... OMIM:610536
Craniofacioskeletal Syndrome
Absent gallbladder, Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect... OMIM:300712
Thyroid Hypoplasia
Macroglossia, Jaundice, Hypothyroidism, Thyroid hypoplasia ORPHA:95720
20Q11.2 Microduplication Syndrome
Low-set, posteriorly rotated ears, Sacral dimple, Prominent metopic ridge, Palpebral edema, Tente... ORPHA:363659
Congenital Fibrinogen Deficiency
Tachycardia, Cyanosis, Hemorrhagic ovarian cyst, Internal hemorrhage, Splenic rupture, Gingival b... ORPHA:335
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Unilateral cryptorchidism, Micrognathia, Cleft palate, Persistence of hemoglob... OMIM:300946
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Limited elbow movement, ... ORPHA:268
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Ventricular septal defect, Cleft palate, Downturned corners of mouth, Ecto... ORPHA:94066
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Arthropathy, Papilledema, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect,... ORPHA:371428
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif... ORPHA:2521
Neu-Laxova Syndrome
Skeletal muscle atrophy, Cerebral calcification, Polyhydramnios, Micrognathia, Flexion contractur... ORPHA:2671
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Boomerang Dysplasia
Abnormally ossified vertebrae, Decreased response to growth hormone stimulation test, Polyhydramn... ORPHA:1263
Phocomelia, Schinzel Type
Micrognathia, Short neck, Cryptorchidism, High, narrow palate, Meningocele, Aplasia/Hypoplasia of... ORPHA:2879
Intellectual Developmental Disorder, Autosomal Recessive 35
Thin upper lip vermilion, Micrognathia, Downturned corners of mouth, Microtia, Everted lower lip ... OMIM:615162
Meier-Gorlin Syndrome 7
Heart block, Anteriorly placed anus, Vertebral segmentation defect, High palate, Atrial septal de... OMIM:617063
Landau-Kleffner Syndrome
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Emotional lability, Social... ORPHA:98818
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Microcephaly, Microdontia, Cryptorchidism, Cleft palate, Hypoplasia of teet... ORPHA:2728
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... OMIM:128980
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Anemia, Intrauterine growth retardation, Hypertro... ORPHA:295
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism, Telangiectasia of the skin, Recurrent shoulder dislocation, Poor ... OMIM:212112
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Thin upper lip vermilion, Micrognathia, Microtia, Everted lower lip vermilion, Low-set ears, Long... ORPHA:357175
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Thrombocytopenia, Leukocytosis, Anterior open-bite malocclusion, Abnormal ce... ORPHA:83601
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Polyhydramnios, Micrognathia, Porencephalic cyst, Webbed neck, Anteri... OMIM:117650
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Wide anterior fon... ORPHA:95715
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Patent ductus arteriosus, Abnormal cardiac septum morphology, Flexion c... ORPHA:2712
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Mixed hearing impairment, Macrocytic anemia, Posteriorly rotated ears, Congenital diaphragmatic h... OMIM:606164
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Thin upper lip vermilion, Cutis marmorata, Intestinal malrotation, Microcephaly... OMIM:614701
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Short neck, Micrognathia,... OMIM:255800
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Abnormality of the philtrum, Non-mi... ORPHA:1770
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Pterygium, Cardiac arrest, Nonimmune hydrops feta... OMIM:618052
Branchiootic Syndrome 3
Branchial cyst, Sensorineural hearing impairment OMIM:608389
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Chronic gastritis, Bicuspid aortic valve, Cerebral arteriovenous malformat... OMIM:150230
Esophageal Atresia
Subglottic stenosis, Maternal diabetes, Polyhydramnios, Gastrointestinal dysmotility, Anorectal a... ORPHA:1199
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Pulmonic st... OMIM:615415
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Irregular dentition, Pericardial lymphangiectasia, Lymphedema, Narrow mouth, Pulmonary lymphangie... OMIM:616006
Noonan Syndrome 7
Atrial septal defect, Thickened helices, Short neck, Cubitus valgus, Dysphagia, Webbed neck, Low ... OMIM:613706
Amish Lethal Microcephaly
Hepatomegaly, Decreased fetal movement, Cerebellar vermis hypoplasia, Death in infancy, Cleft sof... ORPHA:99742
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... OMIM:261600
Trisomy 20P
Short neck, Micrognathia, Abnormal form of the vertebral bodies, Protruding ear, Downturned corne... ORPHA:261318
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Palpebral edema, Micrognathia, Cryptorchidism, Jaundice, Optic nerve dysplasia, Cle... OMIM:214110
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Micrognathia, Short neck, Reticulocytopenia, Leukop... ORPHA:124
Fanconi Anemia, Complementation Group B
Death in infancy, Hypergonadotropic hypogonadism, Ventricular septal defect, Aplastic anemia, Sho... OMIM:300514
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dental crowding, Anterior pituitary hypoplasia, Bilateral cryptorchidism, High, narrow palate, Ga... ORPHA:466791
Cog1-Cdg
Irregularity of vertebral bodies, Cerebellar vermis hypoplasia, Short neck, Micrognathia, Vertebr... ORPHA:263508
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Polyhydramnios, Microcephaly, Splenomegaly, Abnormality of neuronal migration, Hydr... ORPHA:2204
Meier-Gorlin Syndrome 5
Prominent metopic ridge, Microcephaly, Hypoplasia of the maxilla, Cryptorchidism, Micrognathia, S... OMIM:613805
Parenti-Mignot Neurodevelopmental Syndrome
Posteriorly rotated ears, Craniosynostosis, Micrognathia, Cupped ear, Microtia, Short philtrum, L... OMIM:619873
Peters-Plus Syndrome
Short lingual frenulum, Bilobate gallbladder, Limited elbow movement, Short neck, Micrognathia, H... OMIM:261540
Combined Oxidative Phosphorylation Deficiency 57
Death in infancy, Left ventricular noncompaction cardiomyopathy, Reduced cerebral white matter vo... OMIM:620167
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
20Q13.33 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Sacral dimple, Dilation of Virchow-Robin spaces, Facial hypoto... ORPHA:261311
Dubowitz Syndrome
Abnormality of neutrophils, Micrognathia, Rectal prolapse, Protruding ear, High palate, Spina bif... ORPHA:235
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Micrognathia, Short neck, Protruding ear, Webbed neck, Atrial septal ... OMIM:613458
Congenital Gerbode Defect
Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho... ORPHA:99095
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Increased circulating T4 concentration, Intrauterine growth r... ORPHA:525731
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Peau d'orange, Ventricular septal defect, Abnormal cortical gyration,... OMIM:614576
Distal Deletion 10P
Low-set, posteriorly rotated ears, Micrognathia, Short neck, Cryptorchidism, Non-midline cleft li... ORPHA:1580
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Tented upper lip vermilion, Thoracolumbar scoliosis, Craniosynostosis, Short neck, Microcephaly, ... OMIM:616723
Proximal 16P11.2 Microduplication Syndrome
Abnormal basal ganglia MRI signal intensity, Thin upper lip vermilion, Congenital diaphragmatic h... ORPHA:370079
Diamond-Blackfan Anemia 10
Macrocytic anemia, Posteriorly rotated ears, Ventricular septal defect, Congenital diaphragmatic ... OMIM:613309
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplasia of the maxilla, Gastroesophageal reflux, Atrial septal defect, Hypo... ORPHA:79345
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Severe periodontitis, Microcytic anemia, Deep philtrum, Conductive hearing... ORPHA:99843
Cardiofaciocutaneous Syndrome 1
Polyhydramnios, Micrognathia, Short neck, Deep philtrum, Webbed neck, High palate, Gastroesophage... OMIM:115150
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short neck, Abnormality of the endocrine system, Cryptorchidism, Microcephaly, Sensorineural hear... ORPHA:464288
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Micrognathia, Cryptorchidism, Hypoplastic left... OMIM:615524
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... OMIM:619462
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Right... OMIM:253700
Hydrolethalus
Low-set, posteriorly rotated ears, Tracheal atresia, Premature birth, Absent septum pellucidum, P... ORPHA:2189
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Cyanosis, Facial palsy, Triceps weakness, Weakn... ORPHA:98913
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Megaloblastic anemia, Hydrops fetalis, Dehydration, Neutropenia, Intrauterine... ORPHA:79282
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Atrial septal defect, Pancreatic hypoplasia, Hypoplastic tricusp... OMIM:600001
Orofaciodigital Syndrome Type 4
Joint dislocation, Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormalit... ORPHA:2753
Bamforth-Lazarus Syndrome
Thyroid agenesis, Retrognathia, Cleft palate, Congenital hypothyroidism ORPHA:1226
Meier-Gorlin Syndrome 6
Microretrognathia, Posteriorly rotated ears, Decreased response to growth hormone stimulation tes... OMIM:616835
Beta-Mercaptolactate Cysteine Disulfiduria
Low-set, posteriorly rotated ears, Genu valgum, High palate, Hypoplasia of the ear cartilage, Atr... ORPHA:1035
Congenital Neuronal Ceroid Lipofuscinosis
Microcephaly, Neuronal loss in the cerebral cortex, Aplasia/Hypoplasia of the external ear, Vascu... ORPHA:168486
Orofaciodigital Syndrome Type 5
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Microcephaly... ORPHA:2919
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Oligodontia, Prominent metopic ridge, Pericardial effusion, Cryp... ORPHA:1272
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Edema, Polyhydramnios, Aqueductal stenosis, Secundum atrial septal... OMIM:619534
Generalized Arterial Calcification Of Infancy
Cerebral calcification, Medial calcification of large arteries, Adrenal calcification, Edema, Car... ORPHA:51608
Ohdo Syndrome, X-Linked
Posteriorly rotated ears, Hiatus hernia, Micrognathia, Cryptorchidism, Narrow mouth, Long philtru... OMIM:300895
Treacher Collins Syndrome 1
Cleft soft palate, Micrognathia, Cryptorchidism, Cleft palate, Abnormal heart morphology, Wide mo... OMIM:154500
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Flexion contracture, Irregular verte... OMIM:143095
Indomethacin Embryofetopathy
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... ORPHA:1909
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
8Q22.1 Microdeletion Syndrome
Underfolded helix, Abnormal pinna morphology, Camptodactyly of finger, Short neck, Hypoplasia of ... ORPHA:178303
Burn-Mckeown Syndrome
Mandibular prognathia, Atrial septal defect, Ventricular septal defect, Cleft upper lip, Microgna... OMIM:608572
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Thin upper lip vermilion, Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema... OMIM:601927
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Absent septum pellucidum, Hypoplasia of the max... ORPHA:87
Cardiofaciocutaneous Syndrome
Short neck, Lymphedema, Webbed neck, High palate, Biparietal narrowing, Atrial septal defect, Thi... ORPHA:1340
Monosomy 9P
Congenital diaphragmatic hernia, Short neck, Micrognathia, Webbed neck, Anotia, High palate, Agen... ORPHA:261112
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Chronic noninfectious lymphadenopathy, Abnormal lymph node morpholo... ORPHA:319487
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect... ORPHA:163979
Microtia, Hearing Impairment, And Cleft Palate
Increased incisura length, Mixed hearing impairment, Cleft palate, Microtia, Overfolded helix OMIM:612290
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Everted upper lip vermilion, Craniosynostosis, Oligohydramnios, Wide mouth, Microtia, Widely spac... OMIM:619056
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Microcephaly, Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate... OMIM:619227
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Cutis marmorata, Protruding tongue, Short neck, Cryptorchidism, Hydroc... OMIM:612938
Marshall-Smith Syndrome
Irregular dentition, Thoracic scoliosis, Bilateral cryptorchidism, Anteriorly placed anus, Glosso... OMIM:602535
Desmosterolosis
Micrognathia, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Low-set, posteriorly rotated ... ORPHA:35107
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Abnormal pinna morphology, Ventricular septal defect, Short neck, Sensorineural hearing impairmen... ORPHA:52055
Paganini-Miozzo Syndrome
Mandibular prognathia, Posteriorly rotated ears, Downturned corners of mouth, Microtia, Thin verm... OMIM:301025
Ohdo Syndrome
Micrognathia, Cryptorchidism, Hypoplasia of teeth, Long philtrum, Microtia, Widely spaced teeth, ... OMIM:249620
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Dental crowding, Abnormal curvature of the vertebral column, Gastroesophag... ORPHA:353281
Distal Deletion 10Q
Micrognathia, Protruding ear, High palate, Atrial septal defect, Cavum septum pellucidum, Spina b... ORPHA:96148
Tetrasomy 9P
Joint dislocation, Myositis, Glue ear, Dental crowding, Short neck, Micrognathia, Downturned corn... ORPHA:3310
Seckel Syndrome 7
Microcephaly, Abnormal carpal morphology, Madelung deformity, Central hypothyroidism, Microtia, L... OMIM:614851
Developmental And Epileptic Encephalopathy 96
Death in infancy, Hydrops fetalis, Primary microcephaly OMIM:619340
Buratti-Harel Syndrome
Dilation of Virchow-Robin spaces, Posteriorly rotated ears, Cryptorchidism, Velopharyngeal insuff... OMIM:619314
Campomelia, Cumming Type
Hepatomegaly, Abnormally ossified vertebrae, Death in infancy, Prematurely aged appearance, Lymph... ORPHA:1318
Recon Progeroid Syndrome
Attached earlobe, Skeletal muscle atrophy, Prominence of the premaxilla, Smooth philtrum, Dental ... OMIM:620370
Achondrogenesis, Type Ia
Hypoplastic sacrum, Polyhydramnios, Beaded ribs, Short neck, Protruding tongue, Increased nuchal ... OMIM:200600
Galloway-Mowat Syndrome
Abnormal intervertebral disk morphology, Premature birth, Camptodactyly of finger, Hiatus hernia,... ORPHA:2065
Nager Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip... ORPHA:245
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Neurodevelopmental Disorder With Spasticity And Poor Growth
Tented upper lip vermilion, Reduced cerebral white matter volume, High, narrow palate, Patent duc... OMIM:618076
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,... OMIM:274600
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hamartoma of tongue, Short neck, Congenital diaphragmatic hernia, P... OMIM:616546
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Polyhydramnios, Nonimmune hydrops fetalis, Adrenal hypoplasia OMIM:613124
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Ventricular septal defect, Microcep... ORPHA:209905
Kagami-Ogata Syndrome
Pursed lips, Premature birth, Diastasis recti, Kyphoscoliosis, Micrognathia, Short neck, Large pl... ORPHA:254519
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla... OMIM:220210
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Elbow dislocation, Aplasia/Hypoplasia of the middle ear, Atres... ORPHA:3236
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasop... ORPHA:217093
Atelosteogenesis, Type Ii
Death in infancy, Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral s... OMIM:256050
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the knee, Cleft soft palate, Kyphoscoliosis, Micrognathia, Abnormality of the wris... ORPHA:93316
Tetraploidy
Microcephaly, Micrognathia, Cleft palate, Short philtrum, Biparietal narrowing, Hypoplasia of the... ORPHA:3305
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora... ORPHA:980
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Cyanosis, Splenomegaly, Congestive heart failure, Hydrops ... ORPHA:2414
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Cyanosis, Microcephaly, Cardiomegaly, Gastrointestinal dysmotility, Opt... ORPHA:391428
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Macrog... ORPHA:226313
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Severe ... ORPHA:90646
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Micrognathia, Multiple joint dislocation, High palate, Microdontia, ... ORPHA:536467
Hardikar Syndrome
Premature rupture of membranes, Atrial septal defect, Patent foramen ovale, Hepatomegaly, Thoraco... OMIM:301068
Feingold Syndrome 1
Polyhydramnios, Micrognathia, Asplenia, High palate, Accessory spleen, Esophageal atresia, Patent... OMIM:164280
Mitochondrial Complex I Deficiency, Nuclear Type 35
Redundant neck skin, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death, Pulmonary arteria... OMIM:619003
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spa... OMIM:601349
Meacham Syndrome
Bicuspid aortic valve, Death in childhood, Atrial septal defect, Scimitar anomaly, Neonatal death... OMIM:608978
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasop... ORPHA:217085
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Widely spaced teeth, Flaring of rib cage, Hepatomegaly, Hyperlordosis, Hyp... OMIM:253010
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Papillary th... ORPHA:97290
Progressive Supranuclear Palsy
Impulsivity, Depression, Abnormal synaptic transmission, Dementia, Cognitive impairment, Dysphagi... ORPHA:683
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis, Microcephaly OMIM:302000
You-Hoover-Fong Syndrome
Kyphoscoliosis, Microcephaly, Accessory oral frenulum, Cleft palate, Vascular ring, Coarctation o... OMIM:616954
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Myocardial infarcti... ORPHA:740
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Posteriorly rotated ears, Microcephaly, Short neck, Cryptorchidism, Sensorineural h... OMIM:618958
Hydrops Fetalis, Nonimmune
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis, Anemia OMIM:236750
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Short neck, Lymphedema, Splenomegaly, Hydrops fetal... ORPHA:584
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totalis, Common at... OMIM:616749
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis OMIM:616622
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Dental crowding, Polyhydramnios, Micrognathia, Abnormal curvature of the v... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Dental crowding, Polyhydramnios, Micrognathia, Abnormal curvature of the v... ORPHA:353277
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Female hypogonadism, Cholelithiasis, Decreased circulatin... OMIM:240300
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
High-frequency sensorineural hearing impairment, Skeletal muscle atrophy, Mixed hearing impairmen... OMIM:614557
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Micrognathia, Short neck, Abnormal rib morphology, Downturned corners ... ORPHA:93267
Meier-Gorlin Syndrome 4
Genu recurvatum, Microcephaly, Hypoplasia of the maxilla, Cryptorchidism, Micrognathia, Patellar ... OMIM:613804
Schilbach-Rott Syndrome
Posteriorly rotated ears, Microcephaly, Micrognathia, Submucous cleft hard palate, Microtia, Narr... OMIM:164220
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Broad neck, Short neck, Cubitus valgus, Anterior scalloping of vertebral bodies, Cuboid-shaped ve... OMIM:611717
Ear-Patella-Short Stature Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Bifid uvula, Microtia, thir... ORPHA:2554
Trisomy 8Q
Low-set, posteriorly rotated ears, Micrognathia, Short neck, Cryptorchidism, Non-midline cleft li... ORPHA:1752
Alstrom Syndrome
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:203800
Zttk Syndrome
Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Protruding ear, Downturned corners... OMIM:617140
Pyle Disease
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... OMIM:265900
Proteus-Like Syndrome
Mandibular prognathia, Communicating hydrocephalus, Thymus hyperplasia, Genu recurvatum, Venous i... ORPHA:2969
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Hydrops fetalis, Abnormal ... ORPHA:45452
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Thin upper lip vermilion, Posteriorly rotated ears, Cryptorchidism, Narrow mouth, Cleft palate, C... OMIM:601353
Maffucci Syndrome
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... ORPHA:163634
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cleft soft palate, Micrognathia, Short neck, Cryptorchidism, Microcephaly, Patent ductus arterios... ORPHA:2282
Monosomy 18P
Micrognathia, Carious teeth, Short neck, Cleft palate, Protruding ear, Downturned corners of mout... ORPHA:1598
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Posteriorly rotated ears, Micrognathia, Wide mouth, Oligodontia, Microtia, Long philtrum, Recurre... OMIM:602562
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Patent foramen ovale, Elevated circulating thyroid-stimulating hormone concentr... OMIM:225250
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Hypoplasia of the maxilla, Microcephaly, Macrotia, Patent ductus arteriosus, Cleft ... OMIM:616462
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Esophageal varix, Pulmonary arterial hypertension, Pulmonic stenosis... OMIM:616028
Yunis-Varon Syndrome
Cerebellar vermis hypoplasia, Congenital hip dislocation, Anterior concavity of thoracic vertebra... OMIM:216340
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Micrognathia, Vertebral segmentation defect, High palate, Atrial... ORPHA:2745
Mccune-Albright Syndrome
Gastroesophageal reflux, Benign gastrointestinal tract tumors, Hyperthyroidism, Precocious pubert... ORPHA:562
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Micrognathia, Microdontia, Atrial septal defect, Intrauterine growth re... OMIM:620005
Bronchopulmonary Dysplasia
Hyperoxemia, Premature birth, Right ventricular failure, Right ventricular hypertrophy ORPHA:70589
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Absent septum pellucidum, Microcephaly, Conductive hearing impairment, Sensor... OMIM:618500
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Sensorineural hearing impairment, Hydrops fetalis, Cleft palate, Hydrocele test... OMIM:616738
Trichohepatoenteric Syndrome 1