Not currently registered for phenotyping at IMPC

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

Gene Summary

homeobox A3
Hox-1.5,  Mo-10

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Hoxa3 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 Hoxa3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency, Nasal regurgitation, Facial palsy, Dysphagia OMIM:617732
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Cranial nerve compression, Schwannoma, Feed... ORPHA:221098
Verheij Syndrome
Branchial cyst, Thin upper lip vermilion, Vertebral fusion, Ventricular septal defect, Optic nerv... OMIM:615583
Spondyloepimetaphyseal Dysplasia, Shohat Type
Laryngeal stenosis, Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal ... ORPHA:93352
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... OMIM:610168
3C Syndrome
Adrenal hypoplasia, Micrognathia, Feeding difficulties in infancy, Short neck, High, narrow palat... ORPHA:7
Ritscher-Schinzel Syndrome 1
Syndactyly, Ventricular septal defect, Decreased response to growth hormone stimulation test, Adr... OMIM:220210
Atelosteogenesis Type I
Joint dislocation, Laryngeal stenosis, Short femur, Micrognathia, Malrotation of colon, Abnormal ... ORPHA:1190
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... OMIM:609192
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, Gastr... OMIM:609029
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Atelosteogenesis, Type I
Laryngeal stenosis, Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, ... OMIM:108720
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Laryngeal stenosis, Facial palsy, Aplasia/Hypoplasia of the tongue, Micr... ORPHA:1358
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus, Death in childhood OMIM:200900
Arthrogryposis, Distal, Type 1C
Short neck, Knee flexion contracture, Limited neck range of motion, High palate, Clinodactyly of ... OMIM:619110
Emanuel Syndrome
Redundant neck skin, Dental crowding, Multiple joint contractures, Congenital diaphragmatic herni... ORPHA:96170
Atelosteogenesis Type Ii
Laryngeal stenosis, Cervical kyphosis, Micrognathia, Short neck, Short phalanx of finger, Broad m... ORPHA:56304
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thoracic scoliosis, Micrognathia, Downturned corners of mouth, Gastroesophageal r... OMIM:620186
Trehalase Deficiency
Malabsorption, Abdominal pain, Abdominal distention, Diarrhea, Vomiting ORPHA:103909
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... ORPHA:199306
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... OMIM:222600
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Facial palsy, Micrognathia, Hyperlordosis, High, narrow palate, Submuc... ORPHA:2780
Peters Plus Syndrome
Micrognathia, Short neck, Feeding difficulties in infancy, Bicuspid pulmonary valve, Abnormal pul... ORPHA:709
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Micrognathia, Short neck, High, narrow palate, Cleft palate, Abnormal ... ORPHA:2516
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... OMIM:253010
Monosomy 22
Finger syndactyly, Aplasia of the thymus, Short neck, Schwannoma, Clubbing, Hypochromic microcyti... ORPHA:96123
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Trisomy 17P
Skeletal muscle atrophy, Micrognathia, Short neck, Flexion contracture, Orofacial cleft, High pal... ORPHA:261290
Frontometaphyseal Dysplasia 2
Subglottic stenosis, Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, El... OMIM:617137
Chromosome 18Q Deletion Syndrome
Mandibular prognathia, Decreased response to growth hormone stimulation test, Proximal placement ... OMIM:601808
Double Outlet Right Ventricle
Hypoparathyroidism, Tachycardia, Ventricular septal defect, Intestinal malrotation, Abnormality o... ORPHA:3426
Stankiewicz-Isidor Syndrome
Sacral dimple, Ventricular septal defect, Micrognathia, Absent thumb, Cryptorchidism, Short thumb... OMIM:617516
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Laryngeal stenosis, Abnormal metatarsal morphology, Delayed epiphyseal ossification, Multiple joi... ORPHA:93360
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Hypoplasia of the thymus, High palate, Enc... ORPHA:861
Anauxetic Dysplasia 1
Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Microdontia, Lumbar hyperlordos... OMIM:607095
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Chronic diarrhea,... OMIM:602450
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Atrial flutter, Tricuspid regurgitation, Kyphoscoliosis, Protruding tongue... ORPHA:324410
Bilateral Polymicrogyria
Micrognathia, Feeding difficulties, Wide mouth, Facial diplegia, Pseudobulbar paralysis, Abnormal... ORPHA:268940
Spondylodysplastic Ehlers-Danlos Syndrome
Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contractures, Micro... ORPHA:536471
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Adrenal hypoplasia, Micrognathia, Absent middl... OMIM:308050
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Broad jaw, Subglottic stenosis, Exaggerated cupid's bow, Bicuspid aortic valve, Micrognathia, Tap... OMIM:614501
Monosomy 18Q
Mandibular prognathia, Bilateral cryptorchidism, Secundum atrial septal defect, Downturned corner... ORPHA:1600
14Q24.1Q24.3 Microdeletion Syndrome
Thin upper lip vermilion, Brachydactyly, Limited elbow extension and supination, Ventricular sept... ORPHA:401935
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Dental crowding, Abnormal heart valve morphology, Micrognathia, Mitral v... ORPHA:228410
Scheie Syndrome
Mandibular prognathia, Aortic regurgitation, Short neck, Genu valgum, Aortic valve stenosis, Spon... OMIM:607016
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Bicuspid aortic valve, Short neck, Cleft upper lip, Cryptorchidism, Dup... OMIM:243310
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Nasogastric tube feeding in infancy, Gastrointestinal dysmotility, Downtur... ORPHA:453499
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Bifid epiglottis, Decreased response to... OMIM:146510
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Abdominal ... ORPHA:103907
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Gastrointestinal dysm... ORPHA:363705
Anaplastic Thyroid Carcinoma
Laryngotracheal stenosis, Tracheoesophageal fistula, Abnormal skeletal muscle morphology, Lymphad... ORPHA:142
Myhre Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w... OMIM:139210
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, Bicuspid aortic valve, Feeding difficulties in infancy, Nasogastri... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, Bicuspid aortic valve, Feeding difficulties in infancy, Nasogastri... ORPHA:352665
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mandibular prognathia, Subglottic stenosis, Metaphyseal widening, Coxa vara, Thoracic kyphosis, N... OMIM:271510
Robin Sequence With Cleft Mandible And Limb Anomalies
Abnormal aryepiglottic fold morphology, Proximal placement of thumb, Micrognathia, Aplasia of the... OMIM:268305
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Laryngeal stenosis, Short metacarpal, Enlarged interphalangeal joints, Genu recurv... OMIM:151200
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Acrocardiofacial Syndrome
Joint dislocation, Feeding difficulties in infancy, Atrial septal defect, Finger syndactyly, Deat... ORPHA:2008
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Chromosome 22Q11.2 Duplication Syndrome
Velopharyngeal insufficiency, High palate, Micrognathia OMIM:608363
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Fe... ORPHA:95716
Congenital Velopharyngeal Incompetence
Velopharyngeal insufficiency, Abnormal palate morphology ORPHA:2291
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Ventricular septal defect, Camptodactyly of finger, Micrognathia, Thyroid age... ORPHA:3047
Acrofacial Dysostosis 1, Nager Type
Subglottic stenosis, Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognath... OMIM:154400
Thyroid agenesis, Abdominal distention, Feeding difficulties, Macroglossia, Constipation, Hypothy... ORPHA:95713
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Chronic diarrhea, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T ... OMIM:242700
Spastic Paraplegia 81, Autosomal Recessive
Optic atrophy, Bifid uvula, Cleft palate OMIM:618768
Frontometaphyseal Dysplasia
Subglottic stenosis, Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal... ORPHA:1826
Arterial Tortuosity Syndrome
Carotid artery dissection, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Hi... OMIM:208050
Isolated Congenital Hypoglossia/Aglossia
Micrognathia, Nasogastric tube feeding in infancy, Temporomandibular joint ankylosis, Aplasia/Hyp... ORPHA:141152
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Micrognathia, Short neck, Abnor... ORPHA:508498
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Chronic noninfectious lymphadenopathy, Abnormal lymph node morpholo... ORPHA:319487
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long toe, Skeletal muscle atrophy, Arachnodactyly, Kyphoscoliosis, Cryptorchidism, Flexion contra... ORPHA:75496
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Flexion contracture, Tibial bowing, ... OMIM:143095
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventric... ORPHA:210122
Hypothyroidism Due To Tsh Receptor Mutations
Goiter, Feeding difficulties in infancy, Delayed proximal femoral epiphyseal ossification, Elevat... ORPHA:90673
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Feeding difficulties in infancy, Abdominal distention, Delayed epiphyseal ossification, Elevated ... ORPHA:226313
22Q11.2 Deletion Syndrome
Short neck, Micrognathia, Feeding difficulties in infancy, Abnormal aortic arch morphology, Hypop... ORPHA:567
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Short neck, Hypoplasia of the ma... OMIM:201000
Orofaciodigital Syndrome Type 14
Microretrognathia, Ventricular septal defect, Broad hallux, Accessory oral frenulum, Short neck, ... ORPHA:434179
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormality of the parathyroid gland, Secondary hyperparathyroidism ORPHA:140286
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Mandibular prognathia, Thin upper lip vermilion, Finger syndactyly, Dental crowdi... ORPHA:435938
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... OMIM:615779
Smith-Magenis Syndrome
Mandibular prognathia, Everted upper lip vermilion, Abnormality of the dentition, Abnormality of ... OMIM:182290
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Atrial septal defect, Branchial ... ORPHA:261330
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Subglottic stenosis, Atrial septal defect, Toe syndactyly, Ventricular septal defect, Intestinal ... OMIM:619657
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Short neck, Cryptorchidism, Abdominal distention, Diarrhea, Patent ductus arter... OMIM:608104
Satb2-Associated Syndrome Due To A Pathogenic Variant
Thin upper lip vermilion, Micrognathia, Feeding difficulties in infancy, Celiac disease, Abnormal... ORPHA:576283
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Tapered finger, Verte... ORPHA:521445
Carey-Fineman-Ziter Syndrome 2
Thin upper lip vermilion, Dental crowding, Micrognathia, High, narrow palate, Velopharyngeal insu... OMIM:619941
Cohen Syndrome
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Micrognathia, Hypoplas... OMIM:216550
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Subglottic stenosis, Delayed epiphyseal ossifica... ORPHA:93357
Mucolipidosis Iii Gamma
Aortic regurgitation, Short neck, Flat capital femoral epiphysis, Hyperlordosis, Kyphosis, Genu v... OMIM:252605
Congenital Pancreatic Cyst
Abdominal distention, Vomiting, Anorexia, Abdominal pain ORPHA:313906
Cleft Velum
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici... ORPHA:99772
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Short metatarsal, High palate, Broad metacarpals, Short metacarpal, Lu... OMIM:608328
Adducted Thumbs Syndrome
High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High palate, Dysphagia OMIM:201550
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Papillary th... ORPHA:97290
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Subglottic stenosis, Decreased response to growth hormone stimulation test, Micrognathia, Downtur... ORPHA:444077
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, Sinusitis, Aplasia of the thymus, Severe... OMIM:102700
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Dandy-Walker Malformation With Postaxial Polydactyly
Microretrognathia, Patent ductus arteriosus, Postaxial hand polydactyly, Aortic valve stenosis, V... OMIM:220220
Tick-Borne Encephalitis
Back pain, Skeletal muscle atrophy, Stiff neck, Facial palsy, Anorexia, Leukocytosis, Abnormal gl... ORPHA:297
Orofaciodigital Syndrome Xiv
Microretrognathia, Occipital encephalocele, Natal tooth, Ventricular septal defect, Broad hallux,... OMIM:615948
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Delayed cranial suture closure, Decreased circulatin... ORPHA:90674
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Cleft palate, Malar flattening, Truncus arteriosus, Smooth philtrum OMIM:611867
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Redundant neck skin, Micrognathia, Short neck, High palate, Protein-losing enteropathy, Death in ... OMIM:235255
Cowden Syndrome 5
Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroidi... OMIM:615108
Brachytelephalangic Chondrodysplasia Punctata
Laryngeal calcification, Cervical kyphosis, Hypoplasia of the maxilla, Gastroesophageal reflux, A... ORPHA:79345
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
Thoracolaryngopelvic Dysplasia
Laryngeal stenosis, Metaphyseal widening, Narrow pelvis bone, Irregular vertebral endplates, Hypo... OMIM:187760
Hajdu-Cheney Syndrome
Micrognathia, Absent frontal sinuses, Short neck, Downturned corners of mouth, Periodontitis, Par... ORPHA:955
Qazi-Markouizos Syndrome
Abdominal distention, High, narrow palate, Cryptorchidism, Hypoplasia of teeth, Chronic constipat... ORPHA:3010
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, Contracture of the proximal interphalangeal joint of the 2nd finger, Small hypothena... ORPHA:2872
Schimke Immuno-Osseous Dysplasia
Short neck, Neutropenia, Microdontia, Lumbar hyperlordosis, Abnormal primary molar morphology, De... ORPHA:1830
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Long hallux, Thick lower lip vermilion, Flexion con... OMIM:618658
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, ... ORPHA:85451
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Feeding di... OMIM:300048
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif... ORPHA:2521
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Cleft palate, Webbed neck, Hydranencephaly, Truncus arteriosus, Short ... OMIM:601355
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi... ORPHA:3429
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Bifid uvula, Cleft palate OMIM:258320
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dislocated radi... OMIM:612350
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Sinusitis, Aplasia of the thymus, Decreased pr... ORPHA:83471
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Median cleft lip, Accessory oral frenulum, Postaxial polydactyly, Splenomegaly, Supernumerary too... OMIM:617088
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Decreased respon... OMIM:619503
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Arthropathy, Bicuspid aortic valve, Premature thelarche, Osteolysis involving bones of the upper ... ORPHA:371428
Cowden Syndrome 6
Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroidi... OMIM:615109
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Stillbirth, Micrognathia OMIM:183300
Uvula, Bifid
Bifid uvula OMIM:192100
Esophageal Atresia
Subglottic stenosis, Maternal diabetes, Feeding difficulties in infancy, Gastrointestinal dysmoti... ORPHA:1199
Microphthalmia, Syndromic 9
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Patent ... OMIM:601186
Thyroid Hemiagenesis
Macroglossia, Abdominal distention, Constipation, Thyroid agenesis ORPHA:95719
Lambert Syndrome
Wide mouth, Malar flattening, Branchial anomaly, Ventricular septal defect ORPHA:1296
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Nausea and vomiting, Cerebral vasculitis, Leukocytosis, Anterior open-bite malocclusion, Limited ... ORPHA:83601
Pallister-Hall Syndrome
Bifid epiglottis, Adrenal hypoplasia, Gonadotropin deficiency, Hemivertebrae, Atrial septal defec... ORPHA:672
X-Linked Mandibulofacial Dysostosis
Micrognathia, Cryptorchidism, Branchial anomaly, Hypoplasia of the zygomatic bone, High palate, P... ORPHA:1131
Wolman Disease
Nausea and vomiting, Adrenal calcification, Bone-marrow foam cells, Abdominal distention, Splenom... ORPHA:75233
Lethal Congenital Contracture Syndrome 8
Death in infancy, Oral-pharyngeal dysphagia, Feeding difficulties, Facial diplegia, Peripheral hy... OMIM:616287
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Small intestinal dysmoti... ORPHA:298
Fraser Syndrome 1
Encephalocele, Abnormal small intestine morphology, Subglottic stenosis, Laryngeal stenosis, Dent... OMIM:219000
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ectopic posterior pituitary, Congenital hip dislocation, Thoracic scoliosis, Shor... ORPHA:508488
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Congenital diaphragmatic hernia, Micrognathia, Short neck, Hemivertebrae,... ORPHA:96121
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Laryngeal web, Submucous cleft hard palate, Spinal dysraphism, Aortic valv... OMIM:617660
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... ORPHA:75566
Williams-Beuren Syndrome (WBS)
Microdontia, Malar flattening, Aortic valve stenosis, Everted lower lip vermilion DECIPHER:3
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Cleft p... ORPHA:1166
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia, Aortic valve stenosis ORPHA:2871
Adiposis Dolorosa
Abdominal distention, Constipation OMIM:103200
Mucopolysaccharidosis, Type X
Aortic regurgitation, Beaking of vertebral bodies, Thickened aortic valve cusp, Hyperlordosis, Di... OMIM:619698
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Ventricular septal defect, Hypoplasia of the maxilla, Patent ductus arterio... OMIM:277600
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Dependency on parenteral nutrition... OMIM:619445
Volvulus Of Midgut
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... OMIM:193250
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Hallux valgus, Laryngeal stenosis, Thumb contracture, Tapered finger, Duplication of distal phala... ORPHA:324540
Mend Syndrome
Thickened nuchal skin fold, Sacral dimple, Broad hallux, Overlapping toe, Abnormal auditory evoke... ORPHA:401973
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of the premaxilla, Adrenal hypoplasia, Micrognathia, Intestinal malrota... ORPHA:2166
Congenital diaphragmatic hernia, Short neck, Feeding difficulties in infancy, Abnormality of the ... ORPHA:2162
Digeorge Syndrome
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia... OMIM:188400
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... ORPHA:2924
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... ORPHA:1201
Moebius Syndrome
Abnormal nasopharynx morphology, Micrognathia, Feeding difficulties in infancy, Short neck, Conge... OMIM:157900
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect... OMIM:300166
Scimitar Syndrome
Heart block, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Atrial septal defect, Sing... ORPHA:185
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Protruding tongue, Cryptorchidism, Tetralogy of Fallot, Conotruncal defect,... ORPHA:96147
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... OMIM:613330
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Multipl... OMIM:156510
Intellectual Developmental Disorder, X-Linked 90
High palate, Bifid uvula OMIM:300850
Lethal Congenital Contracture Syndrome 10
Torticollis, Stiff neck, Overriding aorta, Ventricular septal defect, Overlapping fingers, Microg... OMIM:617022
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sagittal craniosynostosis, Micrognathia, Small hand, Cleft palate, Widely spaced teeth, Camptodac... ORPHA:459061
Distal Deletion 17Q
Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Abnormality of the philtrum, Aplasia/Hy... ORPHA:1597
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Narrow mouth, Velopharyngeal insuf... OMIM:300978
Jacobsen Syndrome
Short neck, Feeding difficulties in infancy, Abnormal form of the vertebral bodies, Long hallux, ... ORPHA:2308
Cowden Syndrome 1
Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroidi... OMIM:158350
Frontonasal Dysplasia 1
Median cleft lip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal sinu... OMIM:136760
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Micrognathia, Abnormal cardiac ventricle morphology, Patent ductus arterio... ORPHA:2306
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti... OMIM:613662
Thyroid Hypoplasia
Abdominal distention, Macroglossia, Constipation, Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Subaortic Stenosis-Short Stature Syndrome
Abnormal vocal cord morphology, Micrognathia, Short neck, Kyphosis, Membranous subvalvular aortic... ORPHA:3191
Maffucci Syndrome
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... ORPHA:163634
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... ORPHA:2041
Fraser Syndrome
Subglottic stenosis, Laryngeal stenosis, Dental crowding, Orofacial cleft, Vertebral segmentation... ORPHA:2052
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Abnormality of the endocrine system, Metaphyseal chondrodysplasia, Abnormal limb bone morphology,... ORPHA:79321
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... ORPHA:169186
Congenital Pulmonary Valvar Stenosis
Atrial septal defect, Laryngeal stenosis ORPHA:3189
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Congenital hip dislocation, Micrognathia, Short neck, Knee flexion contrac... OMIM:114300
Vater/Vacterl Association
Occipital encephalocele, Laryngeal stenosis, Abnormal nasopharynx morphology, Preaxial polydactyl... OMIM:192350
Femoral-Facial Syndrome
Short fourth metatarsal, Maternal diabetes, Micrognathia, Limited elbow movement, Hemivertebrae, ... OMIM:134780
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Short neck, Protruding tongue, Cryptorchidism, Patent ductus arteriosu... OMIM:612938
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... OMIM:277300
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Thoracolumbar kyphosis, Increased intervertebral space, T l... ORPHA:508533
Atypical Werner Syndrome
Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Micrognathia, Fasting hyperinsuli... ORPHA:79474
Thyroid Dyshormonogenesis 1
Macroglossia, Constipation, Umbilical hernia, Hypothyroidism, Goiter OMIM:274400
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Micrognathia... ORPHA:536516
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... OMIM:601596
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Micrognathia, Deep philtrum, Downturned corners of mouth, Bifid uvula, Cryptorchidism, 2-3 toe sy... ORPHA:404440
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Mitral valve prolapse, Oligodontia, Platyspondy... OMIM:601216
Shwachman-Diamond Syndrome 2
Subglottic stenosis, Normocytic anemia, Death in infancy, Thrombocytopenia, Diarrhea, Metaphyseal... OMIM:617941
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Short neck, Abnormality of the endocrine system, Cryptorchidism, Pseudoh... ORPHA:464288
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Micrognathia, Dilated cardiomyopathy... OMIM:615959
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Nasogastric tube feed... ORPHA:268261
Stillbirth OMIM:265880
Congenital Heart Defects, Multiple Types, 9
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r... OMIM:620294
Adams-Oliver Syndrome 6
Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly... OMIM:616589
Lujan-Fryns Syndrome
Atrial septal defect, Dental crowding, Camptodactyly of finger, Arachnodactyly, Micrognathia, Hyp... ORPHA:776
Neurooculorenal Syndrome
Subglottic stenosis, Decreased circulating cortisol level, Ectopic posterior pituitary, Intestina... OMIM:620305
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Ventricular septal defect, Rocker bottom foot, Feeding difficulties, Wid... OMIM:618506
Temple Syndrome
Maturity-onset diabetes of the young, Micrognathia, Precocious puberty, Cryptorchidism, Flexion c... OMIM:616222
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Right aortic arch, Hypothyroidism, Goiter OMIM:617577
Aarskog-Scott Syndrome
Genu recurvatum, Short neck, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodactyly... ORPHA:915
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Bicuspid aortic valve, Short neck, Cryptorchidism, Deep philtru... OMIM:613563
Classical-Like Ehlers-Danlos Syndrome Type 2
Joint dislocation, Thoracic scoliosis, Micrognathia, Equinus calcaneus, Prominent veins on trunk,... ORPHA:536532
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Congenital Arthrogryposis With Anterior Horn Cell Disease
Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Micrognathia, Cryptorchidis... OMIM:611890
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Short lingual frenulum, Myocardial infarction, Micrognathia, Osteoarthritis, Int... ORPHA:740
Intellectual Developmental Disorder, Autosomal Recessive 44
Thin vermilion border, Bifid uvula, Long philtrum OMIM:615942
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Abnormality of the spleen, Abnormal finger morphology, Gastroeso... ORPHA:2538
Weill-Marchesani Syndrome
Ventricular septal defect, Short thumb, Mitral regurgitation, Pulmonic stenosis, Aortic valve ste... ORPHA:3449
Achondrogenesis Type 1A
Thickened nuchal skin fold, Short palm, Micrognathia, Short neck, Abdominal distention, Short foo... ORPHA:93299
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Hypoplasia of the maxilla, Feeding difficulties in infancy, Abnormal for... ORPHA:192
Bangstad Syndrome
Pancytopenia, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Retrognathia, G... OMIM:210740
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Thickened nuchal skin fold, Redundant neck skin, Mitral atresia, Clinodactyly, Patent ductus arte... OMIM:618164
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Feeding difficulties in infancy, Abdominal distention, Elevated circulating thy... OMIM:218700
Loeys-Dietz Syndrome 4
Torticollis, Bicuspid aortic valve, Arachnodactyly, Eosinophilic infiltration of the esophagus, P... OMIM:614816
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C... ORPHA:160148
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Cleft upper lip, Micrognat... OMIM:612561
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Small intestinal dysmotility, Aganglionic m... ORPHA:95427
Hypomandibular Faciocranial Dysostosis
Death in infancy, Aplasia/Hypoplasia of the tongue, Tracheal stenosis, Craniosynostosis, Laryngea... ORPHA:1790
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Bicuspid aortic valve, Micrognathia, Feeding difficulties in infancy, Nasogastri... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Bicuspid aortic valve, Micrognathia, Feeding difficulties in infancy, Nasogastri... ORPHA:353277
Rhizomelic Limb Shortening With Dysmorphic Features
Hyperextensibility of the finger joints, Micrognathia, Short neck, Short thumb, Short 5th finger,... OMIM:618821
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Bicuspid aortic valve, Abnormal curvature of the vertebral column, Gastroesophag... ORPHA:353281
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Mandibular prognathia, Prominent fingertip pads, Prominent metopic ridge, Bicuspid aortic valve, ... OMIM:619721
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Mitral valve prolapse, Platyspondyly, Ab... ORPHA:90653
Microcephaly 13, Primary, Autosomal Recessive
Subglottic stenosis, Micrognathia, Metaphyseal sclerosis, Small hand, Short foot, Restrictive car... OMIM:616051
Kindler Epidermolysis Bullosa
Laryngeal stenosis, Finger syndactyly, Abnormal dental enamel morphology, Premature loss of prima... ORPHA:2908
Fetal Akinesia Deformation Sequence 4
Micrognathia, Cryptorchidism, High palate, Prenatal death, Neonatal death, Retrognathia OMIM:618393
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Micrognathia, High palate, Short philtrum, Camptodactyly of toe, Long phil... ORPHA:261337
Ascher Syndrome
Deviation of finger, Abnormal upper lip morphology, High palate, Hypothyroidism, Goiter ORPHA:1253
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, High, narrow palate, Sh... ORPHA:193
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Peripheral axonal neuropathy,... OMIM:218000
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Short neck, Widely spaced teeth, High... OMIM:612474
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Abnormality of the dentition, ... OMIM:179613
Mend Syndrome
Microretrognathia, Sacral dimple, Redundant neck skin, Broad hallux, Overlapping toe, Micrognathi... OMIM:300960
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Congenital hip dislocation, Facial palsy, Intestinal malrotati... OMIM:113650
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... OMIM:615382
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Micrognathia, Precocious puberty, Pyloric stenosis, Cryptor... ORPHA:96184
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial... ORPHA:1427
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Optic disc pallor, Ventricular septal defect, Ankle flexion contracture, Ta... ORPHA:464311
Genu recurvatum, Short neck, Hepatosplenomegaly, Short long bone, Protuberant abdomen, Cystic hyg... ORPHA:221054
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Anterior pituitary hypoplasia, Vomiting, Gastroesophageal reflux, Cl... ORPHA:464306
Auriculocondylar Syndrome 3
Glossoptosis, Retrognathia, Bifid uvula, Micrognathia OMIM:615706
Obtuse angle of mandible, Persistent open anterior fontanelle, Decreased response to growth hormo... ORPHA:763
Stickler Syndrome, Type Ii
Micrognathia, High, narrow palate, Pierre-Robin sequence, Cleft palate, Bifid uvula OMIM:604841
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Bifid uvula, Cleft palate ORPHA:506353
Chung-Jansen Syndrome
Micrognathia, Tapered finger, Cryptorchidism, Feeding difficulties, Hip dysplasia, Thin vermilion... OMIM:617991
Benign Schwannoma
Intestinal polyposis, Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth... ORPHA:252164
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... OMIM:274300
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent fora... OMIM:228520
Proteus Syndrome
Kyphoscoliosis, Open mouth, Splenomegaly, Mandibular hyperostosis, Spinal canal stenosis, Lymphan... OMIM:176920
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Micrognathia, Short neck, Short palm, Clinodactyly of the 5th finger, Broad hallux, Clinodactyly ... OMIM:620073
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Thin upper lip vermilion, Redundant neck skin, Ventricular septal defect, Micrognathia, Short nec... ORPHA:1655
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Cari... OMIM:277440
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Sandal gap, Cervical kyphosis, Micrognathia, Hypopla... OMIM:108721
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Brachydactyly, Micrognathia, Short neck, Abnormality of the humerus, Pre... ORPHA:3098
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Osteoarthritis, Brachydactyly ORPHA:2762
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... OMIM:300998
Kagami-Ogata Syndrome
Ventricular septal defect, Diastasis recti, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxil... OMIM:608149
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... ORPHA:884
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal cerebral vascular morphology, Coxa vara, Hypoplastic iliac wing, Atrial septal defect, C... ORPHA:2637
Maxillonasal Dysplasia
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ... ORPHA:1248
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Temple Syndrome
Decreased response to growth hormone stimulation test, Feeding difficulties in infancy, Precociou... ORPHA:254516
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short palm, Bowing of the long bones, Toe syndactyly, Craniosynostosis, Micrognathia, Cryptorchid... ORPHA:171839
Sweeney-Cox Syndrome
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Prominent metopic ridge, Micrognathia, Bi... OMIM:617746
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruption failure, J... OMIM:182250
Cri-Du-Chat Syndrome
Microretrognathia, Syndactyly, Short metacarpal, Diastasis recti, Short neck, Feeding difficultie... OMIM:123450
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain ORPHA:168829
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Patent foramen ovale, Elevated circulating thyroid-stimulating hormone concentr... OMIM:225250
Birk-Barel Syndrome
Microretrognathia, Tented upper lip vermilion, Feeding difficulties in infancy, High palate, Shor... OMIM:612292
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Neoplasm of the pancreas, Testicular neoplasm, Abdominal pain, Abdominal dis... ORPHA:83469
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Feeding difficult... ORPHA:95715
Orofaciodigital Syndrome Type 5
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... ORPHA:2919
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Ventricular septal defect, Abnormal... ORPHA:209905
Mucolipidosis Ii Alpha/Beta
Micrognathia, Cardiomegaly, Metaphyseal widening, Death in childhood, Progressive alveolar ridge ... OMIM:252500
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Mandibular prognathia, Thin upper lip vermilion, Death in infancy, Diabetes mellitus, Tented uppe... OMIM:618622
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, Hyperlordosis, High, narrow palate, Diarrhea, Thick l... OMIM:162300
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... ORPHA:40366
Achondrogenesis, Type Ib
Hypoplastic ilia, Abdominal distention, Stillbirth, Absent or minimally ossified vertebral bodies... OMIM:600972
Martsolf Syndrome 1
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, Ost... OMIM:212720
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Cleft upper lip, Short neck, Abdominal distention, Perica... OMIM:613885
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Thoracolumbar scoliosis, Short neck, Bilateral cryptorchidism, Patent ... OMIM:300472
Proteus-Like Syndrome
Mandibular prognathia, Thymus hyperplasia, Genu recurvatum, Open bite, Venous insufficiency, Abno... ORPHA:2969
Congenital Muscular Dystrophy With Intellectual Disability
Neuropathic spinal arthropathy, Hypoglycosylation of alpha-dystroglycan, Multiple joint contractu... ORPHA:370968
Severe Generalized Junctional Epidermolysis Bullosa
Abnormality of the upper respiratory tract, Laryngeal stenosis, Erosion of oral mucosa, Abnormal ... ORPHA:79404
Distal Xq28 Microduplication Syndrome
Short lingual frenulum, Dental crowding, Epistaxis, Hypoplasia of the maxilla, Patent foramen ova... ORPHA:293939
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subp... OMIM:264700
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Micrognathia, High, narrow pa... OMIM:619472
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Joint dislocation, Decreased muscle mass, Thoracic scoliosis, High, narrow palate, Wrist drop, Jo... ORPHA:1900
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement OMIM:615377
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Micrognathia, Feeding difficulties in infancy, Vertebral segment... ORPHA:2745
Orofaciodigital Syndrome V
Lobulated tongue, High palate, Bifid uvula, Hamartoma of tongue, Optic disc coloboma, Postaxial f... OMIM:174300
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... OMIM:188570
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Syndactyly, Brachydactyly, Intestinal malrotation, Velopharyngeal insuf... OMIM:614701
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Overlapping fingers, Femoral retroversion, Micrognathia, Kn... OMIM:616531
Mesomelia-Synostoses Syndrome
Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morphology, Clinodac... ORPHA:2496
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Redundant neck skin, Proximal placement of thumb, Micrognathia, Short neck, Cryptorch... OMIM:217980
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Short neck, Abdominal distention, Delayed epiphyseal ossification, Splenome... OMIM:602557
Velocardiofacial Syndrome
Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Velopharyngeal insufficiency, Subm... OMIM:192430
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Ovarian fibroma, Abdominal pain, Abdominal distention, Abnorm... ORPHA:314473
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Asplenia, Femoral bowing, Stillbirth, Aortic valve st... OMIM:615415
Orofacial Cleft 13
Oligodontia, Retrognathia, Cleft soft palate, Micrognathia OMIM:613857
Stickler Syndrome, Type I
Arthropathy, Arachnodactyly, Micrognathia, Kyphosis, Irregular femoral epiphysis, Submucous cleft... OMIM:108300
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis, Brachydactyly OMIM:614819
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, C... ORPHA:457193
Primary Effusion Lymphoma
Abdominal distention, Abdominal pain ORPHA:48686
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Geleophysic Dysplasia 3
Subglottic stenosis, Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short ... OMIM:617809
Burn-Mckeown Syndrome
Mandibular prognathia, Ventricular septal defect, Micrognathia, Feeding difficulties in infancy, ... OMIM:608572
Diabetic Embryopathy
Ventricular septal defect, Micrognathia, Cryptorchidism, Abnormal sacrum morphology, Aplasia/Hypo... ORPHA:1926
Greenberg Dysplasia
Laryngeal calcification, Micrognathia, Hypoplasia of the maxilla, Tetraphocomelia, Hypoplastic ve... OMIM:215140
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Mandibular prognathia, Tented upper lip vermilion, Bicuspid aortic valve, Micrognathia, Deep phil... OMIM:619720
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Atrial septal defect, Neon... OMIM:265380
Geleophysic Dysplasia 1
Short palm, Camptodactyly of finger, Tricuspid stenosis, Coxa valga, Congestive heart failure, Hy... OMIM:231050
Ulnar-Mammary Syndrome
Subglottic stenosis, Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia,... OMIM:181450
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia, Neutropenia OMIM:257100
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Irregular verte... ORPHA:439822
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Pediatric-Onset Graves Disease
Nausea and vomiting, Atrial fibrillation, Craniosynostosis, Puberty and gonadal disorders, Conges... ORPHA:525731
Multiple Endocrine Neoplasia Type 2
Multiple mucosal neuromas, Elevated circulating parathyroid hormone level, Pheochromocytoma, Gang... ORPHA:653
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption OMIM:606824
Bangstad Syndrome
Abnormality of the dentition, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ... ORPHA:1227
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Redundant neck skin, Tented upper lip vermilion, Short neck, Micrognathia,... ORPHA:96334
Dysostosis Multiplex, Ain-Naz Type
Glenoid fossa hypoplasia, Abdominal distention, Hip dislocation, Hemivertebrae, Flat acetabular r... OMIM:619345
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Schneckenbecken Dysplasia
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... OMIM:269250
Gaucher Disease, Type I
Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Vertebral compression fra... OMIM:230800
Jansen-De Vries Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Hyperlordosis, Centra... OMIM:617450
Stüve-Wiedemann Syndrome
Bowing of the long bones, Sacral dimple, Camptodactyly of finger, Abnormality of the dentition, F... ORPHA:3206
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchid... ORPHA:2409
Familial Visceral Myopathy
Hyperparathyroidism, Aganglionic megacolon, Camptodactyly of finger, Arachnodactyly, Micrognathia... ORPHA:2604
Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnor... ORPHA:950
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Abdominal distention, Abnormal carpal morphology,... ORPHA:85166
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... OMIM:200990
Abdominal pain, Abdominal distention, Increased serum testosterone level, Ovarian gonadoblastoma,... ORPHA:206484
Noonan Syndrome 5
Mandibular prognathia, Short neck, Cubitus valgus, Cryptorchidism, Wide mouth, Thick vermilion bo... OMIM:611553
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Cleft upper lip, Precocious puberty, Cleft palate, Bifid uvula, Scoliosis, Dysplastic pulmonary v... OMIM:300958
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Hypoplasia of the maxilla, Elevated circulating thyroid-stimulating hormon... OMIM:101800
White-Sutton Syndrome
Mandibular prognathia, Congenital diaphragmatic hernia, Micrognathia, Short neck, Downturned corn... OMIM:616364
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Peroxisome Biogenesis Disorder 2A (Zellweger)
Micrognathia, Metatarsus adductus, Cryptorchidism, Optic nerve dysplasia, Cleft palate, Abnormal ... OMIM:214110
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal distention... ORPHA:92050
Microphthalmia, Syndromic 12
Intestinal malrotation, Micrognathia, Cryptorchidism, Cleft palate, Neonatal death, Retrognathia OMIM:615524
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary venous ... OMIM:617478
Delayed eruption of teeth, Short metacarpal, Short neck, Short metatarsal, Pseudohypoparathyroidi... OMIM:612463
Trisomy 8P
Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Short... ORPHA:264450
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum testosterone concentration, Streak ovary, Abnormal peripheral myelination, Increa... ORPHA:168563
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid process, Cli... OMIM:184250
Mucopolysaccharidosis, Type Vii
Short neck, Flexion contracture, Widely spaced teeth, Narrow greater sciatic notch, Anterior beak... OMIM:253220
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Thyroid Lymphoma
Broad neck, Hyperthyroidism, Lymphadenopathy, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, G... ORPHA:97285
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, Gastroesophageal... OMIM:300373
Lead Poisoning
Delayed eruption of teeth, Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Imbalance... ORPHA:330015
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Optic disc colobo... OMIM:241310
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Micrognathia, Nasogastric tube feeding in infan... ORPHA:93316
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Hurler Syndrome
Short neck, Metaphyseal widening, Flexion contracture, Endocardial fibroelastosis, Microdontia, H... OMIM:607014
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Venous insufficiency, Abnormal form of the vertebral bod... ORPHA:1106
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... ORPHA:137888
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Congest... OMIM:275000
Tracheal atresia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Submucous cleft hard ... ORPHA:2189
Catel-Manzke Syndrome
Joint dislocation, Micrognathia, Short neck, Glossoptosis, High palate, Clinodactyly of the 5th f... OMIM:616145
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Short neck, Hypoplasia of the maxilla, Bilateral cryptor... OMIM:305400
Immunodeficiency 9
Death in infancy, Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stom... OMIM:612782
Cenani-Lenz Syndrome
High, narrow palate, Abnormal form of the vertebral bodies, Short philtrum, Foot oligodactyly, Hy... ORPHA:3258
Charge Syndrome
Feeding difficulties in infancy, Abnormal tibia morphology, Hemivertebrae, Gastroesophageal reflu... ORPHA:138
Pendred Syndrome
Hyperparathyroidism, Thyroid carcinoma, Tracheal stenosis, Hypothyroidism, Goiter ORPHA:705
Mccune-Albright Syndrome
Abnormal femur morphology, Gastroesophageal reflux, Hyperthyroidism, Precocious puberty, Abnormal... ORPHA:562
Thyrocerebrorenal Syndrome
Euthyroid goiter, Thrombocytopenia, Abnormality of the musculature of the limbs ORPHA:3327
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Postaxial hand polydactyly, Multinodular goiter, Triphalangeal thumb ORPHA:2091
Buratti-Harel Syndrome
Dilation of Virchow-Robin spaces, Broad hallux, Cryptorchidism, Velopharyngeal insufficiency, Sub... OMIM:619314
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention OMIM:174050
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Abnormality of the verteb... ORPHA:239
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Micrognathi... ORPHA:177907
Andersen-Tawil Syndrome
Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti... ORPHA:37553
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Abnormal intervertebral disk morphology, Carious teeth, Cryptorchidism, Deep philtrum, Thick lowe... ORPHA:2701
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy, Thrombocytopenia, Goiter OMIM:274240
Aortic Arch Interruption
Bicuspid aortic valve, Feeding difficulties in infancy, Aortic valve atresia, Aortopulmonary wind... ORPHA:2299
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Short neck, Feeding difficulties in infancy, Deep philtrum, High palate, Widely spaced teeth, Atr... OMIM:617506
Autosomal Dominant Progressive External Ophthalmoplegia
Quadriceps muscle weakness, Ragged-red muscle fibers, Gastroesophageal reflux, Hypothyroidism, Hy... ORPHA:254892
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Prec... ORPHA:2588
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... OMIM:614823
Achondrogenesis, Type Ii
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of... OMIM:200610
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... OMIM:101200
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Hypogonadotropic hypogonadism, Ventricular septal defect, Tapered finger, Cryptorc... OMIM:617159
Van Esch-O'Driscoll Syndrome
Sacral dimple, Hypogonadotropic hypogonadism, Ventricular septal defect, Esophageal atresia, Pulm... OMIM:301030
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Cryptorchidism, High palate, ... ORPHA:85279
Geleophysic Dysplasia 2
Short palm, Thin upper lip vermilion, Tricuspid stenosis, Ovoid vertebral bodies, Mitral valve pr... OMIM:614185
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Atrial septal defect, Pancreatic hypoplasia, Hypoplastic tricusp... OMIM:600001
Schimke Immunoosseous Dysplasia
Short neck, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentrat... OMIM:242900
Au-Kline Syndrome
Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, Gastroesophageal reflux,... OMIM:616580
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... OMIM:606519
Short-Rib Thoracic Dysplasia 12
Short neck, Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Patent foramen oval... OMIM:269860
Multicentric Osteolysis, Nodulosis, And Arthropathy
Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty... OMIM:259600
Dysostosis, Stanescu Type
Bowing of the long bones, Persistent open anterior fontanelle, Wormian bones, Abnormal dental ena... ORPHA:1798
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Left-to-right shunt, Overlapping toe, Abnormality of the dentition, Carious teeth, Thin lower lip... ORPHA:363444
Microcephalic Primordial Dwarfism, Dauber Type
Subglottic stenosis, Abnormal carpal morphology, Madelung deformity, Bilateral breast hypoplasia,... ORPHA:319675
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Cleft hard palate, Asplenia, Flexi... ORPHA:261537
Fg Syndrome Type 1
Dental crowding, Micrognathia, Fused teeth, Gastroesophageal reflux, High palate, Atrial septal d... ORPHA:93932
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Cor pulmonale, Clubbing OMIM:247610
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Situs inversus totalis, Patent ductus arteriosus, Hepatosp... OMIM:267010
Fibrochondrogenesis 2
Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Pl... OMIM:614524
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis, Knee osteoarthritis, High palate, Abdominal aortic aneurysm, Bifid uvula, Arachno... ORPHA:284984
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Ventricular septal defec... ORPHA:1458
Thyroid Cancer, Nonmedullary, 4
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm OMIM:616534
Al Amyloidosis
Howell-Jolly bodies, Xerostomia, Abnormal salivary gland morphology, Abnormal EKG, Abnormal auton... ORPHA:85443
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Aortic regurgitation, Normocytic anemia, Refractory anemia, Epistaxi... ORPHA:99147
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Patent ductus ... ORPHA:2412
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Cryptorchidis... ORPHA:3097
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus OMIM:616622
Loeys-Dietz Syndrome 5
Decreased muscle mass, Tented upper lip vermilion, Osteoarthritis, High palate, Bilateral coxa va... OMIM:615582
Congenital Disorder Of Glycosylation, Type It
Decreased serum insulin-like growth factor 1, Tachycardia, Ventricular septal defect, Sudden card... OMIM:614921
Blepharochalasis And Double Lip
Duplication of the upper lip, Goiter OMIM:109900
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Short neck, Hypoplastic ilia, Abnormal cartilage m... ORPHA:2347
Intellectual Developmental Disorder, Autosomal Dominant 21
Sacral dimple, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Feeding difficulties, Coar... OMIM:615502
Marshall-Smith Syndrome
Irregular dentition, Thoracic scoliosis, Bilateral cryptorchidism, Distal widening of metacarpals... OMIM:602535
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Abnormal sacrum morphology, Optic atrophy, Abnormal form of the verteb... ORPHA:93262
Teebi-Shaltout Syndrome
Syndactyly, Ventricular septal defect, Rocker bottom foot, Metatarsus adductus, High, narrow pala... OMIM:272950
Villous atrophy, Short neck, Micrognathia, Right ventricular dilatation, Vomiting, Gastroesophage... ORPHA:79328
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Broad hallux phalanx, Hypoplasia of the maxilla, Narrow mouth, At... ORPHA:261295
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Esophagea... OMIM:314390
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars... OMIM:617102
Craniosynostosis 1
Sagittal craniosynostosis, Craniosynostosis, Right unicoronal synostosis, Aortic valve stenosis, ... OMIM:123100
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Smith-Lemli-Opitz Syndrome
Dental crowding, Proximal placement of thumb, Micrognathia, Gastrointestinal dysmotility, 2-3 toe... OMIM:270400
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Abdominal distention, Optic disc coloboma, Secretory diarrhea, Cleft pala... OMIM:270420
Fraser-Like Syndrome
Subglottic stenosis, Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd f... OMIM:229230
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Trismus, Submucous cleft hard palate, Short distal phalanx of ... OMIM:609166
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abdominal distention, Hypertrophic cardiomyopathy, Delayed puberty ORPHA:369
Progeria-Short Stature-Pigmented Nevi Syndrome
Thoracic scoliosis, Multiple joint contractures, Selective tooth agenesis, Micrognathia, Microcyt... ORPHA:2959
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Multicentric Carpotarsal Osteolysis Syndrome
Ankle swelling, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxilla, Wrist s... OMIM:166300
Mowat-Wilson Syndrome
Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Cleft hard palate, Asplenia, Gastr... ORPHA:2152
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Thin upper lip vermilion, Atrial septal defect, Hyperextensibility of the finger joints, Dental c... OMIM:309520
Adams-Oliver Syndrome 1
Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Supernumerary ni... OMIM:100300
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Pancreatic cysts, Situs inversu... OMIM:208540
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... ORPHA:1307
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... OMIM:277320
Meckel Syndrome 14
Microretrognathia, Occipital encephalocele, Syndactyly, Bowing of the long bones, Tricuspid regur... OMIM:619879
Thin upper lip vermilion, Splenomegaly, 2-3 toe syndactyly, Low posterior hairline, Macroglossia,... OMIM:269921
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Cleft hard palate, Asplenia, Flexi... ORPHA:261552
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Dental crowding, Ventricular septal defect, Persistence of primary teeth, Hiatus hernia, Patent d... OMIM:619769
Koolen-De Vries Syndrome
Bicuspid aortic valve, Feeding difficulties in infancy, High palate, Widely spaced teeth, Promine... OMIM:610443
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Short neck, Hypoplasia ... ORPHA:178303
Cerebellofaciodental Syndrome
Ventricular septal defect, Short neck, Tapered finger, Cryptorchidism, Dental malocclusion, Short... OMIM:616202
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, Chronic constipation, High palate, Sc... OMIM:300676
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abdominal pain, Ab... ORPHA:180229
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, Metaph... OMIM:182212
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Anteriorly placed anus, Gastroesophageal reflux, Prominent fingertip pads, A... OMIM:618494
Folinic Acid-Responsive Seizures
Abdominal distention, Optic atrophy ORPHA:79097
Apert Syndrome
Delayed eruption of teeth, Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndact... ORPHA:87
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... OMIM:252100
Choanal Atresia
Subglottic stenosis, Craniosynostosis, Feeding difficulties, Polydactyly, Laryngomalacia, Chronic... ORPHA:137914
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, High pala... OMIM:613795
Coffin-Siris Syndrome 11
Cleft soft palate, Feeding difficulties in infancy, Esophageal atresia, Downturned corners of mou... OMIM:618779
Orofaciodigital Syndrome Type 2
Micrognathia, Central retinal vessel vascular tortuosity, Finger clinodactyly, High palate, Hypop... ORPHA:2751
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... ORPHA:300373
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... ORPHA:652
2P15P16.1 Microdeletion Syndrome
High palate, Prominent metopic ridge, Facial palsy, Tapered finger, Scoliosis, Narrow mouth, Retr... ORPHA:261349
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormality of the spleen, Tracheoesophageal fistula, Abn... ORPHA:93941
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Thin upper lip vermilion, Prominent fingertip pads, Tricuspid regur... OMIM:612863
Encephalocele, Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplas... ORPHA:391474
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab... ORPHA:980
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Sacral dimple, Abnormality of thyroid physiology, Postaxial polydactyly, Abnormality of the denti... OMIM:300968
Arnold-Chiari Malformation Type I
Abnormality of the musculature of the lower limbs, Stiff neck, Myelopathy, Cranial nerve compress... ORPHA:268882
Rubinstein-Taybi Syndrome 1
Dental crowding, Premature thelarche, Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorc... OMIM:180849
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Chromosome 2P16.1-P15 Deletion Syndrome
Thin upper lip vermilion, Arachnodactyly, Optic nerve hypoplasia, Kyphoscoliosis, Metatarsus addu... OMIM:612513
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Downturned corners of mout... ORPHA:1507
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Proximal placement of thumb, Micrognathia, High, ... ORPHA:435638
Hyperphosphatasia-Intellectual Disability Syndrome
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Supernumerary nipple, M... ORPHA:247262
Zimmermann-Laband Syndrome
Hallux valgus, Micrognathia, Short neck, Splenomegaly, Supernumerary tooth, Gingival fibromatosis... ORPHA:3473
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Irregular, rachitic-l... O