banner
Genes Phenotypes Help, News, Blog

Gene: Hoxa3 MGI:96175

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
homeobox A3
Synonyms:
Hox-1.5,  Mo-10

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 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
phenotypes		 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
Athyreosis
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
Holoprosencephaly
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
Alg3-Cdg
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
Pyknoachondrogenesis
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
Acrocephalopolydactyly
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
Pycnodysostosis
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
Acrodysostosis
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
Gonadoblastoma
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
Pseudopseudohypoparathyroidism
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
Hydrolethalus
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
Alg9-Cdg
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
Sialuria
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
Polyembryoma
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
Frontorhiny
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... ORPHA:289157
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypogonadotropic hypogonadism, Broad hallux, Overlapping toe, Micrognathia, Microcytic anemia, Cr... ORPHA:293967
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Distal lower limb amyotrophy, Thin upper lip vermilion, Brachydactyly, Fac... OMIM:300534
Glutaric Aciduria Iii
Hyperthyroidism, Diarrhea, Hypertension, Vomiting, Goiter OMIM:231690
Neuroendocrine Tumor Of The Rectum
Abnormal pulmonary valve cusp morphology, Anorexia, Lack of bowel sounds, Bloody diarrhea, Atypic... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Abnormal pulmonary valve cusp morphology, Anorexia, Lack of bowel sounds, Bloody diarrhea, Atypic... ORPHA:100082
Granulomatosis With Polyangiitis
Subglottic stenosis, Sinusitis, Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Oral... OMIM:608710
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hyperthyroidism, Rhabdomyolysis, Palpitations, Goiter OMIM:188580
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Bicuspid aortic valve, Delayed eruption of primary teeth, Micrognathia, Hypoplas... OMIM:616367
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Ventricular septal defect, Micrognathia, Short neck, Cryptorchidism, Tape... ORPHA:444072
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Pallister-Killian Syndrome
Tented upper lip vermilion, Congenital hip dislocation, Congenital diaphragmatic hernia, Microgna... OMIM:601803
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Macrocytic anemia, Micrognathia, Cleft palate, Feeding difficulties, Granulocytopenia, Bifid uvula OMIM:606164
Microcephaly-Capillary Malformation Syndrome
Brachydactyly, Ventricular septal defect, Hypoplasia of the maxilla, Optic atrophy, Cleft palate,... OMIM:614261
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroiditis, I... OMIM:212750
Congenital Aortic Valve Stenosis
Thoracic aortic aneurysm, Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aort... ORPHA:3093
Larynx, Congenital Partial Atresia Of
Laryngeal obstruction, Laryngeal web OMIM:150300
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Pulmonary carcinoi... ORPHA:363618
Cholesteryl Ester Storage Disease
Acute hepatic failure, Death in infancy, Adrenal calcification, Bone-marrow foam cells, Hypersple... OMIM:278000
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Micrognathia, Short neck, Feeding difficulties in infancy, Coxa vara, Hi... ORPHA:800
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Bowel urgency, Abdom... ORPHA:100080
Cutis Laxa, Autosomal Recessive, Type Ic
Adrenal hypoplasia, Micrognathia, Morgagni diaphragmatic hernia, Rectal prolapse, Hypoplasia of t... OMIM:613177
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Selective tooth agenesis, Supernumerary nipple, Conical tooth, Hypopla... OMIM:106260
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Thyroid nodule, Goiter OMIM:180295
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Leukopenia, High palate, Triphalangeal thumb, Atrial sep... ORPHA:84
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, Split hand, Cleft palate, High palate, Narrow mouth... OMIM:246560
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Micrognathia, Kyphosis, Protuberant abdomen, Umbilical hernia OMIM:618272
Shprintzen-Goldberg Syndrome
Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Micrognathia... ORPHA:2462
9Q31.1Q31.3 Microdeletion Syndrome
Mandibular prognathia, Aortic regurgitation, Bicuspid aortic valve, Cervical kyphosis, Short neck... ORPHA:401923
Okamoto Syndrome
Tented upper lip vermilion, Redundant neck skin, Primum atrial septal defect, Downturned corners ... ORPHA:2729
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, Mitral valve prolapse, A... OMIM:193400
Robinow Syndrome
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Atrial septal defect, Fused thorac... ORPHA:97360
Desbuquois Dysplasia 2
Dental crowding, Short neck, Metaphyseal widening, Knee dislocation, Short phalanx of finger, Bif... OMIM:615777
Enlarged Parietal Foramina
Occipital encephalocele, Craniosynostosis, Cleft lip, Myelomeningocele, Cleft palate, Vomiting, S... ORPHA:60015
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Tented upper lip vermilion, Exaggerated cupid's bow, Micrognathia, Coxa valga, Deep philtrum, Opt... OMIM:619833
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Intestinal obstruct... OMIM:243150
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, Optic atrophy, High palate, Vomiting, Bifid uvula OMIM:601110
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, M... OMIM:213980
22Q11.2 Duplication Syndrome
Ventricular septal defect, Micrognathia, Cleft palate, Hypoplastic left heart, Transposition of t... ORPHA:1727
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy ORPHA:103910
Singleton-Merten Syndrome 2
Aortic valve calcification, Osteolytic defects of the phalanges of the hand, Joint subluxation, A... OMIM:616298
Rapp-Hodgkin Syndrome
Supernumerary nipple, Conical tooth, Hypoplasia of the maxilla, Carious teeth, Cleft upper lip, V... OMIM:129400
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... ORPHA:98897
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Feeding difficulties in infancy, Abnormal left ventricular function, Leukope... OMIM:301056
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Congenital diaphragmatic hernia, Micrognathia, Short neck, Cryptorchidism, ... ORPHA:251071
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Torticollis, Prominent fingertip pads, Hypoplasia of the maxilla, Nasoga... ORPHA:251061
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Short palm,... OMIM:268310
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Disc-like vertebral bodies, Ovoid vertebral bodies, Dumbbell-shaped long bone, Sho... OMIM:151210
8P23.1 Duplication Syndrome
Toe syndactyly, Ventricular septal defect, Thick vermilion border, Adrenal insufficiency, Pulmoni... ORPHA:251076
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Thin upper lip vermilion, Proximal placement of thumb, Secundum atrial septal defect, 2-3 toe syn... OMIM:619121
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Wide cranial sutures, Bicuspid aortic valve, Patent ductus arteriosus, ... OMIM:619149
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... OMIM:617412
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Thin upper lip vermilion, Delayed closure of the anterior fontanelle, ... OMIM:607812
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Micrognathia, S... OMIM:608022
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Complete atrioventri... OMIM:619142
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Ulnar deviation... ORPHA:1529
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ... OMIM:187600
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia... ORPHA:1120
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Mandibular prognathia, Hyperextensibility of the finger joints, Decreased muscle mass, Dental cro... OMIM:309583
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Cleft lip, Cleft palate, Downturned corners of mouth, Everted lower lip vermilion, Narrow mouth, ... OMIM:618089
Kaufman Oculocerebrofacial Syndrome
Thin upper lip vermilion, Optic disc pallor, Congenital hip dislocation, Ventricular septal defec... OMIM:244450
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Kyphosis, Hypop... OMIM:183900
Nemaline Myopathy 10
Neonatal death, Death in infancy, Facial palsy, Feeding difficulties OMIM:616165
Chromosome Xq13 Duplication Syndrome
Mandibular prognathia, Thin upper lip vermilion, Dilation of Virchow-Robin spaces, Autoimmune thr... OMIM:301069
Progeroid Short Stature With Pigmented Nevi
Irregular dentition, Thoracic scoliosis, Diabetes mellitus, Bicuspid aortic valve, Abnormal joint... OMIM:176690
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Thin upper lip vermilion, Dental crowding, Sandal gap, Paroxysmal supraventricular tachycardia, S... OMIM:617877
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Skeletal muscle atrophy, Thoracic kyphoscoliosis, Arachnodactyly, Broad hallux, Hypoplasia of the... ORPHA:481152
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy, Short neck, Abnormality of the dentition, Secundum atrial septal defect,... OMIM:615802
Zttk Syndrome
Hypoplasia of the maxilla, Feeding difficulties in infancy, Flexion contracture, Hemivertebrae, D... OMIM:617140
Neuroendocrine Tumor Of Stomach
Abnormal pulmonary valve cusp morphology, Anorexia, Poor appetite, Lack of bowel sounds, Bloody d... ORPHA:100075
Porphyria Due To Ala Dehydratase Deficiency
Abdominal pain, Abnormal erythrocyte enzyme level, Abdominal distention, Diarrhea, Constipation, ... ORPHA:100924
Ovarian Fibrothecoma
Ovarian fibroma, Abdominal pain, Abdominal distention, Abnormal circulating hormone concentration... ORPHA:314478
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Short metacarpal, Short neck, Short toe, Short metatarsal, Pseudohypop... OMIM:103580
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra... OMIM:613239
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Atrial septal ... OMIM:613458
Ptosis-Vocal Cord Paralysis Syndrome
Laryngomalacia ORPHA:2997
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... OMIM:154780
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Decreased response to growth hormone stimulation... OMIM:614114
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Short metacarpal, Short neck, Elevated circulating thyroid-stimulating... OMIM:612462
Mullegama-Klein-Martinez Syndrome
Thin upper lip vermilion, Facial palsy, Congenital diaphragmatic hernia, Micrognathia, Cleft lip,... OMIM:301022
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Decreased circul... OMIM:241410
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Congenital Heart Defects And Skeletal Malformations Syndrome
Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, High palate, Clino... OMIM:617602
Vacterl/Vater Association
Occipital encephalocele, Finger syndactyly, Abnormal intervertebral disk morphology, Congenital d... ORPHA:887
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... ORPHA:1452
Larynx Atresia
Laryngomalacia ORPHA:1202
Premature Aging Syndrome, Penttinen Type
Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Elevated circulating thy... OMIM:601812
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Aplastic clavicle, Protruding tongue, Mi... ORPHA:50945
Mandibuloacral Dysplasia With Type B Lipodystrophy
Death in early adulthood, Prominent superficial veins, Dental crowding, Micrognathia, Insulin-res... OMIM:608612
Kleefstra Syndrome 2
Everted lower lip vermilion, Bifid uvula OMIM:617768
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Knee dislocation, Atrial septal defect, Spina bifida occulta... OMIM:150250
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Abnormal cartilage morphology, Coarctation of aorta, Abnormal aortic m... ORPHA:2396
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the max... ORPHA:397973
Liang-Wang Syndrome
Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi... OMIM:618729
Visceral Myopathy 1
Intestinal pseudo-obstruction, Gastroparesis, Aganglionic megacolon, Abdominal pain, Abdominal di... OMIM:155310
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Overriding aorta, Micrognathia, Cryptorchidism, Patent ductus arteriosu... ORPHA:3304
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Micrognathia, Short neck, Patent ductus arteriosus, Bilateral cleft lip a... ORPHA:2001
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Micrognathia, Carious teeth, Velopharyngeal insufficiency, Patent duct... OMIM:613680
Laryngeal Abductor Paralysis
Laryngomalacia ORPHA:2808
Neuhauser Syndrome
Arachnodactyly, Genu recurvatum, Micrognathia, Genu valgum, High palate, Primary hypothyroidism, ... OMIM:249310
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Skeletal muscle atrophy, Thin upper lip vermilion, Prominent metopic ridge, Unilateral cryptorchi... OMIM:618862
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Craniosynostosis, Hyperlordosi... ORPHA:794
Chromosome 2Q37 Deletion Syndrome
Short fourth metatarsal, Short metacarpal, Short toe, Feeding difficulties, Short phalanx of fing... OMIM:600430
Toriello-Carey Syndrome
Aganglionic megacolon, Micrognathia, Feeding difficulties in infancy, Cryptorchidism, Short neck,... ORPHA:3338
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Thin upper lip vermilion, Hypoplasia of the maxilla, Optic atrophy, Smooth philtrum, Widely-space... OMIM:618737
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... ORPHA:913
Congenital Laryngomalacia
Laryngomalacia, Non-midline cleft lip, Cleft palate ORPHA:2373
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Short metacarpal, Ventricular septal defect, Craniosynostosis, Micrognathia, Abnor... ORPHA:166035
Microsporidiosis
Pharyngitis, Myositis, Sinusitis, Anorexia, Abdominal pain, Abnormal vocal cord morphology, Myoca... ORPHA:2552
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, First degree atrioventricular block, Atrioventricular block, Trip... ORPHA:392
Cerebrofacioarticular Syndrome
Irregular dentition, Anal stenosis, Syndactyly, Micrognathia, Hypoplasia of the maxilla, Feeding ... ORPHA:314679
Jackson-Weiss Syndrome
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Broad met... ORPHA:1540
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Decreased testicular size, Anal atresia ORPHA:93950
Fryns Syndrome
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Short neck, Abnormal a... ORPHA:2059
Van Den Ende-Gupta Syndrome
Dental crowding, Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, High, narrow ... OMIM:600920
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, Flexio... OMIM:224690
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Abdominal pain, Abdominal distention, Vomiting, Nausea ORPHA:90003
Hurler-Scheie Syndrome
Aortic regurgitation, Camptodactyly of finger, Thenar muscle atrophy, Micrognathia, Contracture o... OMIM:607015
Thyroid Ectopia
Abnormality of the thyroid gland, Abdominal distention, Macroglossia, Constipation, Ectopic thyro... ORPHA:95712
Peritoneal Cystic Mesothelioma
Abdominal distention, Constipation, Abdominal pain ORPHA:168816
Pediatric Systemic Lupus Erythematosus
Myositis, Abdominal pain, Pericardial effusion, Abdominal distention, Diarrhea, Raynaud phenomeno... ORPHA:93552
Donohue Syndrome
Precocious puberty, Abdominal distention, Thick lower lip vermilion, Hyperinsulinemia, Gingival o... OMIM:246200
Medullary Thyroid Carcinoma
Diarrhea, Primary hyperparathyroidism, Dysphagia, Lymphadenopathy, Pheochromocytoma, Elevated cir... ORPHA:1332
Pancreatoblastoma
Abdominal pain, Abdominal distention, Diarrhea, Abnormal lymph node morphology, Vomiting, Pancrea... ORPHA:677
Meier-Gorlin Syndrome 5
Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Irregular femor... OMIM:613805
Pseudohypoparathyroidism, Type Ii
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism OMIM:203330
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Abnormal aor... ORPHA:860
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in infancy, Dysphagia, Feeding difficulties, Death in childhood, Neonatal death OMIM:620265
Van Maldergem Syndrome 2
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi... OMIM:615546
Braddock Syndrome
Congenital muscular torticollis, Micrognathia, Short neck, Preaxial hand polydactyly, Hemivertebr... ORPHA:52047
Malignant Peritoneal Mesothelioma
Abdominal distention, Ileus, Abdominal pain ORPHA:168811
Oligomeganephronia
Branchial cyst, Pulmonary venous occlusion, Congenital diaphragmatic hernia, Micrognathia, Secund... ORPHA:2260
Septopreoptic Holoprosencephaly
Precocious puberty, Coarctation of aorta, Anteriorly placed anus, Dysphagia, Anterior hypopituita... ORPHA:280195
Arboleda-Tham Syndrome
Mandibular prognathia, Bilateral cryptorchidism, Secundum atrial septal defect, Downturned corner... OMIM:616268
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Short neck, Micrognathia, Feeding difficulties in infancy, Proxi... ORPHA:818
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Oral ulcer, Leukopenia, High palate, Hypoplasia of the thymus, Neu... OMIM:612541
Orofaciodigital Syndrome Type 4
Joint dislocation, Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormalit... ORPHA:2753
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abn... ORPHA:91387
Phace Syndrome
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctati... ORPHA:42775
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Generalized lymphadenopathy, Pulmonary embolism, Feeding difficulties in... ORPHA:3260
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Cryptorc... OMIM:616331
Frontometaphyseal Dysplasia 1
Carpal synostosis, Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Abs... OMIM:305620
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Arachnodactyly, Thoracic aortic aneurysm, Kne... OMIM:619656
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Feeding difficulties in infancy, Splenomegaly, Lymphad... OMIM:257200
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Elevated circulating growth ho... ORPHA:97287
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Delayed cranial s... ORPHA:2484
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Bifid uvula, Feeding difficulties OMIM:619239
Mucolipidosis Type Ii
Knee flexion contracture, Abnormal long bone morphology, Patent foramen ovale, Telangiectases of ... ORPHA:576
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Proximal placement of thumb, Micrognathia, Feeding difficulties in infancy... OMIM:610759
Native American Myopathy
Skeletal muscle atrophy, Submucous cleft soft palate, Micrognathia, Cryptorchidism, Abnormality o... ORPHA:168572
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, ... ORPHA:1876
Bamforth-Lazarus Syndrome
Thyroid agenesis, Bifid epiglottis, Cleft palate, Congenital hypothyroidism OMIM:241850
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Short neck, Preaxial polydactyly, Narrow greater sciatic notch, Neonatal death, Sho... OMIM:617925
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla, Genu valgum, Slender long bones with narrow diaphyses, Disharmonious c... OMIM:608154
Chops Syndrome
Gastroparesis, Ventricular septal defect, Cryptorchidism, High, narrow palate, Patent ductus arte... OMIM:616368
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Cryptorchidism, Abnormal heart m... OMIM:601499
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Micrognathia, Gingival overgrowth, Narrow palate, Faci... OMIM:618186
Bainbridge-Ropers Syndrome
Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge... OMIM:615485
Letterer-Siwe Disease
Abdominal distention, Thrombocytopenia, Hepatosplenomegaly, Neutropenia, Stomatitis, Anemia OMIM:246400
Marden-Walker Syndrome
Skeletal muscle atrophy, Micrognathia, Abnormal form of the vertebral bodies, Bifid uvula, Arachn... ORPHA:2461
Keipert Syndrome
Broad hallux phalanx, Tented upper lip vermilion, Exaggerated cupid's bow, Short hallux, Aplasia/... ORPHA:2662
Van Maldergem Syndrome 1
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi... OMIM:601390
Marfanoid Habitus With Situs Inversus
Mandibular prognathia, Hyperextensibility of the finger joints, Aortic regurgitation, Arachnodact... OMIM:609008
Robinow Syndrome, Autosomal Recessive 2
Brachydactyly, Bicuspid aortic valve, Cleft soft palate, Broad hallux, Micrognathia, Abnormality ... OMIM:618529
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Abdominal distention, Episodic abdominal pain, N... ORPHA:100086
Anterior Cutaneous Nerve Entrapment Syndrome
Anorexia, Abdominal pain, Abdominal distention, Leukocytosis, Recurrent infection of the gastroin... ORPHA:51890
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Clef... ORPHA:79113
Crouzon Syndrome
Hypoplasia of the maxilla, Abnormal sacrum morphology, Optic atrophy, Narrow palate, Multiple sut... ORPHA:207
Nephrotic Syndrome, Type 1
Hypothyroidism, Abdominal distention, Gastroesophageal reflux, Pyloric stenosis OMIM:256300
Ovarian Hyperstimulation Syndrome
Nausea and vomiting, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycystic ovaries, Abdom... ORPHA:64739
Branchiootic Syndrome
Branchial fistula, Facial palsy, Lip pit, Micrognathia, Cleft palate ORPHA:52429
Spastic Paraplegia 16, X-Linked
Facial hypotonia, Hypoplasia of the maxilla, Lower limb amyotrophy, Lower limb muscle weakness, S... OMIM:300266
Combined Oxidative Phosphorylation Deficiency 53
Abdominal distention, Death in infancy, Hypochromic microcytic anemia, Death in childhood OMIM:619423
Primary Hepatic Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy, Anorexia, Abdominal distention, Diarrhea, Episodic abdomin... ORPHA:100085
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Mucopolysaccharidosis Type 3
Cardiomegaly, Adenoiditis, Flexion contracture, Atrioventricular block, Abnormal form of the vert... ORPHA:581
Costello Syndrome
Thickened nuchal skin fold, Ventricular septal defect, Abnormal dental enamel morphology, Short n... ORPHA:3071
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Bilateral cryptorchidism, Knee... OMIM:617402
Hereditary Angioedema Type 1
Tongue edema, Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiti... ORPHA:100050
Cartilage-Hair Hypoplasia
Short neck, Heart block, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tib... ORPHA:175
Amish Lethal Microcephaly
Death in infancy, Cleft soft palate, Micrognathia, Optic atrophy, Feeding difficulties ORPHA:99742
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Palatine myxoma, Pituitary adenoma, Cardiac my... OMIM:160980
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micrognathia, Short neck, Cl... OMIM:616038
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Abnormally ossified vertebrae, Micrognathia, Cryptorchidism, Optic atrophy... ORPHA:3301
15Q Overgrowth Syndrome
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... ORPHA:314585
Nablus Mask-Like Facial Syndrome
Thin upper lip vermilion, Sandal gap, Short hallux, Short neck, Hypoplasia of the maxilla, Crypto... OMIM:608156
Craniofacioskeletal Syndrome
Absent gallbladder, Thin upper lip vermilion, Ventricular septal defect, Tracheal stenosis, Micro... OMIM:300712
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... ORPHA:2658
Marbach-Rustad Progeroid Syndrome
Prominent superficial veins, Femur fracture, Poor appetite, Delayed eruption of primary teeth, Mi... OMIM:619322
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Vomiting, Male hypogonadism, Hype... ORPHA:91347
Werner Syndrome
Skeletal muscle atrophy, Telangiectasia of the skin, Rocker bottom foot, Abnormal cerebral vascul... ORPHA:902
Familial Adenomatous Polyposis
Duodenal polyposis, Multiple gastric polyps, Eruption failure, Papillary thyroid carcinoma, Adeno... ORPHA:733
Agnathia-Otocephaly Complex
Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Laryngeal hypoplasia, Agloss... OMIM:202650
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Ventricular septal defect, Cryptorchidism, Thick lower lip vermilion, Subm... OMIM:619103
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Wide cranial sutures, Broad long bones, Dental crowding, Fifth finger ... OMIM:257850
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism, Recurrent shoulder dislocation, Down-sloping shoulders, Telangiec... OMIM:212112
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft lip, High palate, Bifid uvula OMIM:155145
Limb-Mammary Syndrome
Bifid uvula, Hypoplastic nipples, Hypodontia, Cleft palate OMIM:603543
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Decreased response to growth hormone stimulation test, Abnormality of the dentition, Short neck, ... OMIM:601427
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, High palat... OMIM:619148
Bor Syndrome
Branchial cyst, Retrognathia, Facial palsy, Cleft palate ORPHA:107
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Feeding difficulties... ORPHA:3282
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Synovitis, Lumb... OMIM:601492
Cowden Syndrome
Brachydactyly, Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of the thyr... ORPHA:201
Neu-Laxova Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Abnormality of th... ORPHA:2671
Crouzon Syndrome
Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Opt... OMIM:123500
Stickler Syndrome
Joint dislocation, Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Feeding diff... ORPHA:828
Farber Disease
Skeletal muscle atrophy, Flexion contracture, Cherry red spot of the macula, Abnormality of the w... ORPHA:333
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, At... OMIM:306955
Tetrasomy 9P
Joint dislocation, Myositis, Dental crowding, Micrognathia, Short neck, Downturned corners of mou... ORPHA:3310
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Narrow mouth, Neonatal death, Microglossia, Retrognathia OMIM:227270
Meier-Gorlin Syndrome 4
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Thick lower lip vermili... OMIM:613804
Osteoglophonic Dysplasia
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... OMIM:166250
Hamamy Syndrome
Prolonged QRS complex, Micrognathia, Microcytic anemia, High palate, Atrial septal defect, Clinod... OMIM:611174
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the muscul... ORPHA:1101
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Death in infancy, Elbow contracture, Abdominal distention, Knee contracture, Feeding difficulties... OMIM:620275
Branchiooculofacial Syndrome
Proximal placement of thumb, Micrognathia, Short neck, Gastroesophageal reflux, Clinodactyly of t... OMIM:113620
Liver Failure, Infantile, Transient
Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal distention, V... OMIM:613070
Microphthalmia With Limb Anomalies
Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Hig... OMIM:206920
Pycnodysostosis
Persistent open anterior fontanelle, Delayed eruption of primary teeth, Micrognathia, Absent fron... OMIM:265800
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Proximal ... OMIM:613406
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Bone-marrow foam cells, Precocious atherosclerosis, Vacuolated lymphocytes... ORPHA:275761
Ear-Patella-Short Stature Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly of the 5th finger, Bif... ORPHA:2554
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Orofaciodigital Syndrome Iii
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula OMIM:258850
Cenani-Lenz Syndactyly Syndrome
Premature loss of permanent teeth, Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia... OMIM:212780
Degcags Syndrome
Micrognathia, Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, Gastroesophageal ref... OMIM:619488
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy... ORPHA:97289
Mirizzi Syndrome
Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Gallbladder perforation, Vomitin... ORPHA:521219
Meester-Loeys Syndrome
Joint dislocation, Aortic dissection, Arachnodactyly, Gingival overgrowth, Mitral valve prolapse,... OMIM:300989
Kleefstra Syndrome
Mandibular prognathia, Tented upper lip vermilion, Bicuspid aortic valve, Downturned corners of m... ORPHA:261494
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hypothyroidism, Hyperplasia of the ... ORPHA:231226
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Congenital diaphragmatic hernia, Supernumera... ORPHA:1001
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Thickened nuchal skin fold, Redundant neck skin, Supernumerary nipple, Proximal placement of thum... OMIM:604314
Mucopolysaccharidosis Type 2, Severe Form
Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi... ORPHA:217085
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, V... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, V... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, V... ORPHA:93924
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, V... ORPHA:220386
Coffin-Siris Syndrome 12
Micrognathia, Gastroesophageal reflux, High palate, Patent foramen ovale, Hypothyroidism, Facial ... OMIM:619325
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Optic disc pallor, Death in infancy, Cryptorchidism OMIM:613730
Geroderma Osteodysplasticum
Mandibular prognathia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Kyph... OMIM:231070
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Nausea and vomiting, Torticollis, Back pain, Abnormal thoracic spine mo... ORPHA:370348
Schinzel-Giedion Syndrome
Short neck, Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, Shor... ORPHA:798
Methimazole Embryofetopathy
Ventricular septal defect, Abnormality of the thyroid gland, Esophageal atresia, Tracheoesophagea... ORPHA:1923
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Atria... OMIM:274000
Desmosterolosis
Intestinal malrotation, Micrognathia, Metatarsus adductus, Splenomegaly, Patent ductus arteriosus... ORPHA:35107
Craniofacial Microsomia 1
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Vertebral hypopl... OMIM:164210
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Short distal phalanx of finger, Abnormality of the dentition ORPHA:2776
15Q14 Microdeletion Syndrome
Ventricular septal defect, Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, ... ORPHA:261190
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Congestive heart failure, Ovarian neoplasm, Arteriovenous malformation, Lym... ORPHA:137608
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Micrognathia, Feeding difficulties in infancy, Cryptorchidism, Cleft l... OMIM:619123
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Exaggerated cupid's bow, Spina bifida, Tapered finger, Cyst of the ductus choledochu... OMIM:619480
Mitochondrial Complex I Deficiency, Nuclear Type 15
Neonatal death, Optic atrophy OMIM:618237
Schilbach-Rott Syndrome
Narrow mouth, Submucous cleft hard palate, Bifid uvula, Micrognathia OMIM:164220
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Abno... OMIM:109120
Keutel Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Optic atrophy, Recurrent sinusitis, Calcifi... ORPHA:85202
Stuve-Wiedemann Syndrome 2
Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Thrombocytopenia OMIM:619751
Takenouchi-Kosaki Syndrome
Proximal placement of thumb, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Lo... OMIM:616737
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Mandibular prognathia, Abnormality of the dentition, Cryptorchidism, Wide mouth, Thick vermilion ... OMIM:618505
Mucopolysaccharidosis Type 2, Attenuated Form
Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi... ORPHA:217093
Jung Syndrome
Tracheal stenosis, Hypothyroidism, Abnormal form of the vertebral bodies, Low posterior hairline ORPHA:2321
Floating-Harbor Syndrome
Enlarged joints, Short neck, Hypoplasia of the maxilla, Oligodontia, Humeral pseudarthrosis, Gast... ORPHA:2044
Castleman Disease
Nausea and vomiting, Intestinal obstruction, Generalized lymphadenopathy, Abdominal pain, Follicu... ORPHA:160
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting ORPHA:35710
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Thyroid C cell hyperplasia, Delayed eruption of primary teeth, Dilated cardiomyop... OMIM:300952
Peroxisome Biogenesis Disorder 6A (Zellweger)
Feeding difficulties in infancy, Decreased liver function, Neonatal death OMIM:614870
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Multiple joint contractures, Short neck, Secundum atrial septal defect, Nasogastric tube feeding ... ORPHA:99646
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Congenital malformation of the left heart,... ORPHA:3455
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Ventricular septal defect, Supernumerary nipple... OMIM:235730
Fanconi Anemia, Complementation Group B
Death in infancy, Hypergonadotropic hypogonadism, Ventricular septal defect, Aplastic anemia, Sho... OMIM:300514
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Short palm, Finger syndactyly, Toe syndactyly, Intestinal pseudo-obstruction, Arachnodactyly, Cry... ORPHA:73246
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Decreased response to growth hormo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Decreased response to growth hormo... ORPHA:363958
Hereditary Spherocytosis
Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Restrictive cardiomy... ORPHA:822
Branchioskeletogenital Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Upper limb peromelia, Anteriorly pl... ORPHA:1299
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Micrognathia, Short ... OMIM:605275
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Patent ductus arteriosu... OMIM:614886
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Chronic diarrhea, ... OMIM:300400
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Feeding difficulties in infancy, Orofacial cleft, Gastroesophageal reflux,... OMIM:607872
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Micrognathia, Short neck, Short metatarsal, Widely spaced teeth, High palate, Microdontia, Clinod... OMIM:266920
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Thin upper lip vermilion, Foot dorsiflexo... ORPHA:477817
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Chylomicron Retention Disease
Acanthocytosis, Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption ORPHA:71
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Death in infancy, Intestinal malrotation, Hypoperistalsis, Abdominal distent... ORPHA:2241
Distal Deletion 15Q
Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous syndactyl... ORPHA:1596
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Dyskeratosis Congenita
Abnormality of neutrophils, Hypoplasia of the maxilla, Periodontitis, Scoliosis, Abnormal testis ... ORPHA:1775
Angelman Syndrome
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Feeding difficulties in infa... OMIM:105830
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebr... ORPHA:50814
Chime Syndrome
Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Aplastic clavicle, Supernume... ORPHA:3474
Oculogastrointestinal Neurodevelopmental Syndrome
Sacral dimple, Bicuspid aortic valve, Hemivertebrae, Laryngeal cleft, Anal atresia OMIM:619318
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Sc... ORPHA:624
Combined Oxidative Phosphorylation Deficiency 8
Death in childhood, Death in infancy, Neonatal death, Feeding difficulties OMIM:614096
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... OMIM:609945
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Abdominal symptom, Calcinosis, Prolonged QT interval, Decreased respon... ORPHA:94089
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Protruding tong... OMIM:200600
3Mc Syndrome 2
Prominence of the premaxilla, Torticollis, Diastasis recti, Hypoplasia of the musculature, Partia... OMIM:265050
Xanthoma Disseminatum
Abnormality of the pharynx, Abnormal lip morphology, Diabetes insipidus, Abnormality of the larynx ORPHA:158003
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Hypoplasia of the maxilla, Retinal t... OMIM:620157
Beta-Thalassemia Major
Extramedullary hematopoiesis, Malar prominence, Hypothyroidism, Hyperplasia of the maxilla, Hypop... ORPHA:231214
Mosaic Trisomy 1
Thoracic scoliosis, Congenital diaphragmatic hernia, Orofacial cleft, Finger clinodactyly, Pulmon... ORPHA:1692
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Dental crowding, Micrognathia, Vascular dilatation, Long fingers, Varicose vei... OMIM:618343
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bowel incontinence, Kyphosis, Gastrointestinal dysmotility, Axonal degeneration, Abnormal sensory... ORPHA:88628
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:609152
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, S... OMIM:119600
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Abdominal symptom, Calcinosis, Short metacarpal, Hypergonadotropic hyp... ORPHA:79444
Opsismodysplasia
Short metacarpal, Short neck, Hypoplasia of the odontoid process, Squared iliac bones, Hypoplasti... OMIM:258480
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Aganglionic megacolon, Ventricular septal defect, Short neck, Hypoplasia of... OMIM:609460
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Flexion contracture of finger, Redundant neck skin, Exaggerated cupid's bow, Diastasis ... ORPHA:254528
Gaucher Disease, Type Ii
Death in infancy, Trismus, Thrombocytopenia, Splenomegaly, Feeding difficulties, Gastroesophageal... OMIM:230900
W Syndrome
Hypoplasia of the ulna, Radial bowing, Metatarsus adductus, Elbow dislocation, Clinodactyly, Subm... ORPHA:2804
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metacarpal, Redundant neck skin, Dental crowding, Brachydactyly, Sacral dimple, Short neck,... OMIM:617157
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Peripheral axonal neuropathy, Micrognathia, Feeding difficulties in infancy, Hydrocele testis, Na... OMIM:618810
Beare-Stevenson Cutis Gyrata Syndrome
Natal tooth, Redundant neck skin, Overlapping toe, Craniosynostosis, Feeding difficulties in infa... OMIM:123790
Hydrolethalus Syndrome 1
Accessory spleen, Median cleft lip, Ventricular septal defect, Micrognathia, Laryngeal hypoplasia... OMIM:236680
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, Unilateral cryptorchidism, Bilateral cryptorchidism, Feeding difficulties, High... OMIM:300219
Orofaciodigital Syndrome Xix
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Tongue nodules, Downtur... OMIM:620107
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Tented upper lip vermilion, Decreased response to... ORPHA:488632
Colonic Atresia
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, S... OMIM:218600
Meckel Syndrome, Type 1
Occipital encephalocele, Adrenal hypoplasia, Short neck, Micrognathia, Asplenia, Lobulated tongue... OMIM:249000
Ulnar-Mammary Syndrome
Aplasia of the pectoralis major muscle, Abnormal finger morphology, Abnormality of the wrist, Abn... ORPHA:3138
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Aortic regurgitation, Rhabdomyosarcoma, Micrognathia, Increased nuchal tran... ORPHA:1052
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Patent ductus arteriosus, Oligodontia, A... ORPHA:2095
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac... OMIM:217085
Pai Syndrome
Median cleft lip, Bifid uvula, Cleft palate, Abnormal oral frenulum morphology ORPHA:1993
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, Gastroesophageal ... OMIM:117650
Pfeiffer Syndrome
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Melnick-Needles Syndrome
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... OMIM:309350
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the maxilla, Feeding difficulties in infancy, Gastrointestinal dysmotility, Hemiver... ORPHA:500150
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Diarrhea, Activating thyroid-stimulating hor... ORPHA:424
Lymphatic Malformation 6
Micrognathia, Splenomegaly, Hydrocele testis, Varicose veins, Gastroesophageal reflux, Scoliosis,... OMIM:616843
Necrotizing Enterocolitis
Abdominal distention, Diarrhea, Leukocytosis, Bloody diarrhea, Vomiting, Neutropenia, Thrombocyto... ORPHA:391673
Peters-Plus Syndrome
Short lingual frenulum, Bilobate gallbladder, Proximal placement of thumb, Short neck, Micrognath... OMIM:261540
Branchiootic Syndrome 1
Branchial fistula, Retrognathia OMIM:602588
Leopard Syndrome 1
Mandibular prognathia, Bundle branch block, Limited elbow movement, Short neck, Webbed neck, Apla... OMIM:151100
Mucopolysaccharidosis Type 2
Irregularity of vertebral bodies, Abnormal tricuspid valve morphology, Papilledema, Chronic diarr... ORPHA:580
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Micrognathia, Multinodular goiter, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Hammert... OMIM:620189
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He... ORPHA:402075
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Mandibular prognathia, Gastroesophageal reflux, Clinodactyly of the 5th finger, Atrial septal def... ORPHA:459070
Sepsis In Premature Infants
Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Leukocytosis, Enterocolitis, Functi... ORPHA:90051
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, M... ORPHA:140
Meier-Gorlin Syndrome 3
Microretrognathia, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Aplasia/Hypoplasia of... OMIM:613803
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Clinodactyly, Webbed neck, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, C... OMIM:280000
Charge Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Secundum atrial septal defec... OMIM:214800
Liver Disease, Severe Congenital
Chronic gastritis, Micrognathia, Biliary hyperplasia, Cardiomegaly, Abnormal left ventricular fun... OMIM:619991
Phaver Syndrome
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Myelomenin... ORPHA:2876
Dubowitz Syndrome
Delayed eruption of teeth, Syndactyly, Sacral dimple, Aplastic anemia, Micrognathia, Carious teet... OMIM:223370
Fetal Gaucher Disease
Death in infancy, Pancytopenia, Abnormality of the spleen, Splenomegaly, Stillbirth, High palate,... ORPHA:85212
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Thin upper lip vermilion, Tricuspid regurgitation, Abdominal distention, Mediastinal lymphadenopa... OMIM:620233
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal intervertebral disk morphology, Micrognathia, Short neck, Abnormal finger morphology, Ab... ORPHA:2636
Mandibuloacral Dysplasia
Dental crowding, Micrognathia, Insulin-resistant diabetes mellitus, Abnormal tongue morphology, H... ORPHA:2457
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death OMIM:301021
Fraser Syndrome 2
Intestinal malrotation, Short neck, Abdominal distention, Rectal atresia, Cutaneous syndactyly, H... OMIM:617666
Lissencephaly 7 With Cerebellar Hypoplasia
Downturned corners of mouth, Death in infancy, Neonatal death, Micrognathia OMIM:616342
Focal Dermal Hypoplasia
Acute hepatic failure, Congenital diaphragmatic hernia, Gastroesophageal reflux, Finger syndactyl... ORPHA:2092
3-Methylglutaconic Aciduria, Type Iv
Biventricular hypertrophy, Cryptorchidism, Subvalvular aortic stenosis OMIM:250951
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, High, narrow palate, High palate, Widely spaced teeth, Microdontia, Anodon... OMIM:218330
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Diarrhea, Activating thyroid-stimulating hor... ORPHA:99819
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Absent nipple, Micrognathia, Hypoplasia of the ... OMIM:209885
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow... OMIM:614753
Hyperparathyroidism-Jaw Tumor Syndrome
Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Shortened QT i... ORPHA:99880
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Thin upper lip vermilion, Decreased response to growth hormone stimulation... ORPHA:529962
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Abdominal distention, Microcolon OMIM:619362
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Anteriorly placed anu... OMIM:211380
Cleidocranial Dysplasia 2
Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypoplasia of the m... OMIM:620099
Tarp Syndrome
Extramedullary hematopoiesis, Micrognathia, Glossoptosis, Atrial septal defect, Finger syndactyly... ORPHA:2886
16P13.11 Microduplication Syndrome
Arachnodactyly, Ventricular septal defect, Craniosynostosis, Coarctation of aorta, Hand polydacty... ORPHA:261243
Down Syndrome
Redundant neck skin, Short palm, Hypoplastic iliac wing, Atrial septal defect, Atrioventricular c... OMIM:190685
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, ... ORPHA:245
Livedoid Vasculopathy
Enlargement of the ankles, Diabetes mellitus, Abnormal capillary morphology, Telangiectasia of th... ORPHA:542643
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones... OMIM:614091
Menkes Disease
Gastrointestinal hemorrhage, Nausea and vomiting, Bowing of the long bones, Tarsal synostosis, Mi... ORPHA:565
Atelis Syndrome 2
Sacral dimple, Micrognathia, Diastema, Kyphosis, Patent ductus arteriosus, Elevated circulating t... OMIM:620185
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Pulmonary embolism, Venous insuffi... ORPHA:90308
Parathyroid Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Shortened QT i... ORPHA:143
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Hypertension, Increased c... OMIM:171400
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Intestinal malrotation, Abdominal distention, Bloody diarrhea, Intes... ORPHA:436252
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H... OMIM:147750
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Micrognathia, Cryptorchidism... ORPHA:1724
Kabuki Syndrome 2
Natal tooth, Prominent fingertip pads, Micrognathia, Feeding difficulties in infancy, Lower lip p... OMIM:300867
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Cryptorchidism, Wide mouth, Protuberant abdomen, Long philtrum, Open mouth, ... ORPHA:457485
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous syndactyly, Short philtrum, Clin... OMIM:618454
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Postaxial hand polydactyl... ORPHA:2752
Von Willebrand Disease
Abnormal mitral valve morphology, Venous insufficiency, Deviation of finger ORPHA:903
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Micrognathia, ... OMIM:300990
Microvillus Inclusion Disease
Abdominal distention, Diarrhea, Abnormal small intestinal villus morphology, Villous atrophy ORPHA:2290
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta, Abnormal cardiac septum morphology, Neonatal deat... OMIM:601612
Diamond-Blackfan Anemia 1
Micrognathia, Short neck, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palate, Tripha... OMIM:105650
Giant Cell Arteritis
Glossitis, Pericarditis, Epistaxis, Anorexia, Abdominal pain, Sudden cardiac death, Mediastinal l... ORPHA:397
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... ORPHA:199302
Distal Deletion 19P
Long toe, Ventricular septal defect, Arachnodactyly, Hypoplasia of the maxilla, Cleft palate, Sho... ORPHA:96129
Alternating Hemiplegia Of Childhood
Exaggerated cupid's bow, Facial hypotonia, Anorexia, Oral-pharyngeal dysphagia, Cardiac conductio... ORPHA:2131
Gabriele-De Vries Syndrome
Hallux valgus, Facial hypotonia, Sandal gap, Aortopulmonary collateral arteries, Micrognathia, Ab... OMIM:617557
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Sandal gap, Micrognathia, 2-3 toe syndactyly, Small thenar eminence, Joint... OMIM:618914
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Pyloric stenosis, Elbow flexion contracture, Increased variability in ... OMIM:619461
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Cardiomegaly, Microcytic anemia, Elevated circulating thyroid-stimulatin... OMIM:256040
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Marshall Syndrome
Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, Osteoarthritis, Hypoplasti... ORPHA:560
Wilson Disease
Hypoparathyroidism, Acute hepatic failure, Hemolytic anemia, Decreased nerve conduction velocity,... OMIM:277900
Noonan Syndrome 4
Ventricular septal defect, Short neck, Cubitus valgus, Cryptorchidism, Dental malocclusion, Wide ... OMIM:610733
Pseudohypoparathyroidism Type 1A
Abdominal symptom, Decreased response to growth hormone stimulation test, Reduced circulating pro... ORPHA:79443
Loeys-Dietz Syndrome
Joint dislocation, Arachnodactyly, Camptodactyly of finger, Cardiac arrest, Micrognathia, Arteria... ORPHA:60030
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Broad hallux, Sa... OMIM:600987
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism OMIM:603233
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Brachydactyly, Short lingual frenulum, Bowed humerus, Flexion cont... OMIM:619479
Bartsocas-Papas Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Short neck, Flexion contractur... OMIM:263650
Arterial Tortuosity Syndrome
Myocardial infarction, Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th finger, Arachn... ORPHA:3342
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Metachromatic Leukodystrophy, Late Infantile Form
Feeding difficulties in infancy, Abdominal distention, Decreased nerve conduction velocity, Optic... ORPHA:309256
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Cleft palate, Osteolytic defects of the distal phalanges of th... ORPHA:50815
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... ORPHA:229
Neurodevelopmental Disorder With Spasticity And Poor Growth
Tented upper lip vermilion, High, narrow palate, Achilles tendon contracture, Patent ductus arter... OMIM:618076
X-Linked Intellectual Disability, Nascimento Type
Deep philtrum, Downturned corners of mouth, Neutropenia, Patent foramen ovale, Lower extremity jo... ORPHA:163956
Holt-Oram Syndrome
Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm... OMIM:142900
Opitz Gbbb Syndrome
Anal atresia, Thin upper lip vermilion, Abnormal nasopharynx morphology, Ventricular septal defec... OMIM:300000
Orofaciodigital Syndrome Vi
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ... OMIM:277170
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis OMIM:114065
Diaphragmatic Hernia 4, With Cardiovascular Defects
Finger syndactyly, Ventricular septal defect, Aortopulmonary collateral arteries, Optic nerve hyp... OMIM:620025
Parathyroid Carcinoma
Hyperparathyroidism, Parathyroid carcinoma OMIM:608266
Occipital Horn Syndrome
Venous insufficiency, High, narrow palate, Coxa vara, Humerus varus, Gastroesophageal reflux, Sho... ORPHA:198
Endocrine-Cerebroosteodysplasia
Natal tooth, Syndactyly, Median cleft lip, Bowed forearm bones, Bilateral cleft lip, Adrenal hypo... OMIM:612651
Isolated Anencephaly
Cleft lip, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Lacrimoauriculodentodigital Syndrome
Micrognathia, Xerostomia, Orofacial cleft, Hypoplasia of the epiglottis, Microdontia, Abnormal sa... ORPHA:2363
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Oral ulcer, Gingivitis, Inflammation of the large intestine, Periodontitis, Hypothyroidism, Delay... ORPHA:79259
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Cleft upper lip, Micrognathia, Kyphosis, Patent ductus arteriosus, Tet... OMIM:153400
Williams Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Micrognathia, Cardiomegaly, Myocard... ORPHA:904
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Orofaciodigital Syndrome Type 10
Cleft soft palate, Accessory oral frenulum, Micrognathia, Short neck, Duplication of thumb phalan... ORPHA:2756
Syndromic Diarrhea
Aortic regurgitation, Atrial septal defect, Villous atrophy, Lymphopenia, Gastritis, Bicuspid aor... ORPHA:84064
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dental crowding, Cardiomegaly, High, narrow palate, Pineal cyst, Gastroesophageal reflux, Short p... OMIM:300967
Meckel Syndrome, Type 10
Occipital encephalocele, Sacral dimple, Postaxial polydactyly, Postaxial hand polydactyly, Anence... OMIM:614175
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Multiple pterygia, Micrognathia OMIM:601809
Chromosome 17Q12 Duplication Syndrome
Facial hypotonia, Cleft soft palate, Micrognathia, Esophageal atresia, Atrial septal defect, Broa... OMIM:614526
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Myocardial infarction, Short neck, Micrognathia, High, narrow palate, Gast... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Myocardial infarction, Short neck, Micrognathia, High, narrow palate, Gast... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Myocardial infarction, Short neck, Micrognathia, High, narrow palate, Gast... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Myocardial infarction, Short neck, Micrognathia, High, narrow palate, Gast... ORPHA:881
3Q29 Microdeletion Syndrome
Dental crowding, Abnormality of the dentition, Tapered finger, Patent ductus arteriosus, Orofacia... ORPHA:65286
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Short palm, Thin upper lip vermilion, Brachydactyly, Wide mouth, Branchial anomaly, Gastroesophag... ORPHA:466950
Mosaic Trisomy 16
Syndactyly, Single coronary artery origin, Ventricular septal defect, Maternal diabetes, Large pl... ORPHA:1708
Axenfeld-Rieger Syndrome
Anal stenosis, Hypoplasia of the maxilla, Everted lower lip vermilion, Hypodontia, Microdontia, A... ORPHA:782
Metachromatic Leukodystrophy, Adult Form
Bowel incontinence, Decreased nerve conduction velocity, Abdominal distention, Optic atrophy, Neo... ORPHA:309271
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Thin upper lip vermilion, Anal stenosis, Optic nerve hypoplasia, Micrognat... OMIM:620029
Acute Intermittent Porphyria
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi... ORPHA:79276
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Secretory diarrhea, Hyperactive renin-angiotensin system, Hyperaldosteronis... OMIM:214700
Carney Complex
Neoplasm of the stomach, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, O... ORPHA:1359
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation OMIM:264270
Kagami-Ogata Syndrome
Pursed lips, Diastasis recti, Kyphoscoliosis, Micrognathia, Short neck, Large placenta, Coxa valg... ORPHA:254519
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin... OMIM:300106
Alkaptonuria
Arthropathy, Vertebral fusion, Mitral valve calcification, Low back pain, Coronary artery calcifi... OMIM:203500
De Barsy Syndrome
Delayed eruption of teeth, Decreased muscle mass, Congenital hip dislocation, Ventricular septal ... ORPHA:2962
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, Diarrhea, T lym... OMIM:619313
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Celiac disease, Abnormality of the thyroid gland, Primary adrenal insufficien... ORPHA:3143
Larsen-Like Syndrome, Lethal Type
Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Laryngomalacia, Neonata... OMIM:245650
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Long toe, Joint dislocation, Bowing of the long bones, Arachnodactyly, Phalangeal dislocation, Ge... OMIM:130070
Pyknoachondrogenesis
Craniofacial hyperostosis, Short iliac bones, Abdominal distention, Abnormal iliac wing morpholog... ORPHA:3003
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Abdominal distention, Hypoperistalsis OMIM:619365
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Hamartoma of tongue, Cryptorchidism, Patent ductus arteriosus, 2-3 finger syndactyly, Subvalvular... ORPHA:1338
Noonan Syndrome 10
Atrial septal defect, Ventricular septal defect, Short neck, Cubitus valgus, Cryptorchidism, Incr... OMIM:616564
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... OMIM:619534
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Ventricular s... OMIM:263520
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Oral mucosal blisters, Abdominal distention, Congenital pyloric atresia, Ena... ORPHA:79403
Noonan Syndrome 14
Aortic regurgitation, Scapular winging, Short neck, Cryptorchidism, High, narrow palate, Clinodac... OMIM:619745
Ring Chromosome 7 Syndrome
Mandibular prognathia, Situs inversus totalis, Slender finger, Prominent crus of helix, Small han... ORPHA:1449
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla OMIM:618302
Meier-Gorlin Syndrome 6
Microretrognathia, Sandal gap, Decreased response to growth hormone stimulation test, Cryptorchid... OMIM:616835
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Afibrinogenemia, Congenital
Death in infancy, Hematemesis, Splenic rupture, Death in adolescence, Gingival bleeding, Death in... OMIM:202400
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Abdominal distention OMIM:618528
Parkes Weber Syndrome
Abnormal femoral metaphysis morphology, Back pain, Peripheral arteriovenous fistula, Cerebral art... ORPHA:90307
Transaldolase Deficiency
Pancytopenia, Ventricular septal defect, Short neck, Patent foramen ovale, Deep philtrum, Patent ... OMIM:606003
Bent Bone Dysplasia Syndrome 1
Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hepatospl... OMIM:614592
Steinfeld Syndrome
Absent gallbladder, Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ra... OMIM:184705
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Dental crowding, Down-sloping shoulders, Micrognathia, Coxa valga, Insulin-resistant ... OMIM:248370
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... OMIM:600501
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Abnormal morphology of ulna, Short neck, Feeding difficulties in... ORPHA:1340
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Micrognathia, Short neck, Reticulocytopenia, Leukop... ORPHA:124
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Villous atrophy, Ventricular septal defect, Increased mean platelet volume,... OMIM:222470
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum ORPHA:93945
Ppoma
Poor appetite, Anorexia, Lack of bowel sounds, Episodic abdominal pain, Increased circulating cor... ORPHA:97278
Lymphatic Malformation 7
Pericardial effusion, Abdominal distention, Increased nuchal translucency, Varicose veins, Atrial... OMIM:617300
Walker-Warburg Syndrome
Skeletal muscle atrophy, Cryptorchidism, Submucous cleft hard palate, Optic atrophy, Cleft palate... ORPHA:899
Autosomal Dominant Spastic Paraplegia Type 10
Distal lower limb amyotrophy, Dupuytren contracture, Peripheral axonal neuropathy, Upper limb amy... ORPHA:100991
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Prominent superficial veins, Telangiectasia of the skin, A... ORPHA:75508
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Short neck, Secundum atrial septal defect, Flexion contracture, Downturned corners ... OMIM:264090
Genitopatellar Syndrome
Congenital hip dislocation, Micrognathia, Knee flexion contracture, Anteriorly placed anus, Atria... OMIM:606170
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperextensibility of the finger joints, Intracranial hemorrhage, Short philtrum, Atrial septal d... ORPHA:163979
Ichthyosis, Congenital, Autosomal Recessive 4B
Neonatal death, Death in infancy, Everted lower lip vermilion OMIM:242500
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Thin upper lip vermilion, Tricuspid regurgitation, Dextrocardia, Supernumerary nipple, Cryptorchi... OMIM:618929
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Bicuspid aortic valve, High, narrow palate, Abnormal curvature of the vertebral column... OMIM:619475
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Bacterial endocarditis, S... ORPHA:97214
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Cleft palate, Femoral bowing, ... OMIM:616462
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Micrognathia, Optic atrophy, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia... OMIM:619708
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Thoracic aortic aneurysm, Arachnodactyly, Mitral valve prolapse, Ascending a... OMIM:616166
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Marfan Syndrome
Skeletal muscle atrophy, Dental crowding, Limited elbow movement, Micrognathia, High, narrow pala... ORPHA:558
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Abdominal distention, Optic atrophy ORPHA:309263
Hereditary Fructose Intolerance
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... ORPHA:469
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, Neonatal death, Decr... ORPHA:85284
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Tracheal stenosis, Secundum atrial septal defect, In... OMIM:620183
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Death in infancy, Thymus hyperplasia, Arachnodactyly, Micrognathia, Feeding difficulties in infan... OMIM:619036
Osteogenesis Imperfecta
Abnormality of dental color, Cervical kyphosis, Micrognathia, Abnormal tibia morphology, Flexion ... ORPHA:666
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Micrognathia, C... OMIM:619343
Primary Ciliary Dyskinesia
Abnormal atrial arrangement, Atrial situs ambiguous, Intestinal malrotation, Situs inversus total... ORPHA:244
Aicardi Syndrome
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Cleft upper lip, Precocious ... ORPHA:50
Keutel Syndrome
Sinusitis, Ventricular septal defect, Calcification of the auricular cartilage, Short hallux, Car... OMIM:245150
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Micrognathia, Short neck, Feeding difficulties in infancy, High... OMIM:163950
Foix-Alajouanine Syndrome
Distal lower limb amyotrophy, Back pain, Low back pain, Bowel incontinence, Myelopathy, Cervical ... ORPHA:79093
Hardikar Syndrome
Vomiting, Atrial septal defect, Patent foramen ovale, Cleft soft palate, Portal hypertension, Abd... OMIM:301068
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Tricuspid regurgitation, Hypoplasia of the maxilla, Thick vermilion border, Lo... ORPHA:228396
Floating-Harbor Syndrome
Short neck, Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, ... OMIM:136140
Holoprosencephaly 2
Aplasia of the premaxilla, Adrenal hypoplasia, Submucous cleft hard palate, Absent nasal septal c... OMIM:157170
Primary Biliary Cholangitis
Orthostatic hypotension, Celiac disease, Abdominal distention, Abnormality of the thyroid gland, ... ORPHA:186
Holoprosencephaly 9
Hypoplasia of the premaxilla, Decreased response to growth hormone stimulation test, Anterior pit... OMIM:610829
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Cleft upper lip, Cryp... OMIM:264480
45,X/46,Xy Mixed Gonadal Dysgenesis
Bicuspid aortic valve, Micrognathia, Bilateral cryptorchidism, Short metatarsal, High palate, Ova... ORPHA:1772
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Short palm, Bifid epiglottis, Cleft upper lip, Micrognathia, Cryptorchidism, Abdominal distention... ORPHA:93271
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Congenital diaphragmatic hernia, Cardiomegaly, Feeding difficulties in inf... ORPHA:116
Meacham Syndrome
Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Atrial septal defect, Diaphragmatic ... OMIM:608978
Currarino Syndrome
Absence of the sacrum, Anal stenosis, Hemisacrum, Perianal abscess, Gastrointestinal obstruction,... OMIM:176450
Hypermobile Ehlers-Danlos Syndrome
Joint dislocation, Venous insufficiency, Gastrointestinal dysmotility, Abnormality of the gingiva... ORPHA:285
Ravine Syndrome
Abnormal auditory evoked potentials, Abnormality of the larynx, Anorexia ORPHA:99852
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Hypoplasia of the maxilla, Cleft palate, Finger clinodactyly, Pectoral m... ORPHA:306542
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Congenital diaphragmatic hernia, Vertebral segmentation defect, Narrow gre... OMIM:312870
Kabuki Syndrome
Congenital diaphragmatic hernia, Hemivertebrae, Abnormal form of the vertebral bodies, Orofacial ... ORPHA:2322
Crane-Heise Syndrome
Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Toe syndactyly, Aplastic ... ORPHA:1512
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Nasogastric ... ORPHA:206436
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f... OMIM:608670
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cryptorchidism, Submucous cleft hard palate, Cleft palate, Hypogonadism, Failure of eruption of p... ORPHA:2250
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micrognathia, Short neck, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact... OMIM:210710
Milroy Disease
Hydrocele testis, Varicose veins, Abnormal venous morphology, Ankle swelling ORPHA:79452
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, Cryptorchidism, Rectal atresia, Neonatal death, Anal atresia OMIM:613390
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... ORPHA:137675
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Diarrhea, Thrombocytopenia, Lymphadenopathy... OMIM:603554
Marfan Syndrome
Decreased muscle mass, Dental crowding, Bicuspid aortic valve, Genu recurvatum, Micrognathia, Equ... OMIM:154700
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... ORPHA:500
Meckel Syndrome 12
Rocker bottom foot, Micrognathia, Antecubital pterygium, Arthrogryposis multiplex congenita, Bifi... OMIM:616258
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, Short neck, High, narrow palate, Deep philtrum, Downturned corners of mout... OMIM:619950
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus, Partial an... ORPHA:95430
Multiple Epiphyseal Dysplasia Type 5
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnorm... ORPHA:93311
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Short fourth metatarsal, Septo-optic dysplasia, Anterior pituitary hypopla... OMIM:619841
Cat Eye Syndrome
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Micrognathia, Rectal fistula, A... OMIM:115470
Chondrodysplasia Punctata 2, X-Linked Dominant
Postaxial polydactyly, Short neck, Kyphoscoliosis, Hemivertebrae, Punctate vertebral calcificatio... OMIM:302960
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Pelvic girdle muscle atrophy, Elevated circulating luteinizing hormone lev... ORPHA:3044
Fanconi-Bickel Syndrome
Abdominal distention, Diabetes mellitus, Hepatic failure ORPHA:2088
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis, Esophageal varix OMIM:215600
Cardiomyopathy, Dilated, 2H
Neonatal death, Feeding difficulties OMIM:620203
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Aplastic clavicle, Carious teeth, Abnormal zygomatic bone morphology, Elbo... ORPHA:2769
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Skeletal muscle atrophy, Spinal rigidity, Flexion contracture, Dilated cardiomyopa... OMIM:253800
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormal venous morphology, Telangiectasia of the skin, Macrodactyly, Abnormal cerebral vascular ... ORPHA:276280
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Bacterial endocarditis, Papilledema, Hepatosplenomegaly, Varicose vein... ORPHA:2072
Craniosynostosis 2
Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Triphalangeal thu... OMIM:604757
Gitelman Syndrome
Maternal diabetes, Iron deficiency anemia, Prominent U wave, Abnormal T-wave, Hashimoto thyroidit... ORPHA:358
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Noonan Syndrome 9
Ventricular septal defect, Short neck, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis, W... OMIM:616559
Kaposi Sarcoma
Venous insufficiency, Abnormality of the spleen, Diarrhea, Generalized lymphadenopathy ORPHA:33276
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Restrictive Dermopathy 1
Natal tooth, Limb joint contracture, Rocker bottom foot, Adrenal hypoplasia, Micrognathia, Kyphos... OMIM:275210
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, X... ORPHA:238468
Hypophosphatemic Rickets, Autosomal Recessive, 2
Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Pulmonic stenosis, Genu varum OMIM:613312
Kasabach-Merritt Syndrome
Reticulocytosis, Abdominal pain, Abdominal distention, Thrombocytopenia, Abnormal lymphatic vesse... ORPHA:2330
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati... ORPHA:906
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Thin upper lip vermilion, Toe clinodactyly, Ventricular septal defect, San... OMIM:620330
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Arachnodactyly, Micrognathia, Feeding difficulties, Aplasia/Hypoplasia of the Epiglottis, Delayed... ORPHA:1129
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Tracheoesophageal fistu... ORPHA:268249
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Microretrognathia, Joint dislocation, High palate, Short clavicles, Short 4th metacarpal OMIM:606220
Cowden Syndrome 7
Intestinal polyposis, Papillary thyroid carcinoma, Ductal carcinoma in situ, Hashimoto thyroiditi... OMIM:616858
Yunis-Varon Syndrome
Redundant neck skin, Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Microg... OMIM:216340
Branchiootic Syndrome 3
Branchial cyst, Commissural lip pit OMIM:608389
Popliteal Pterygium Syndrome
Cleft upper lip, Cryptorchidism, Lower lip pit, Fibrous syngnathia, Cleft palate, Popliteal ptery... OMIM:119500
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m... ORPHA:1071
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mouth OMIM:137550
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Decreased number of peripheral myelinated nerve fibers, Reye syndrome-like... OMIM:256810
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morpho... ORPHA:1896
Mesomelia-Synostoses Syndrome
Microretrognathia, Abnormal vertebral morphology, Progressive forearm bowing, Micrognathia, Short... OMIM:600383
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Abdominal distention, Hemivertebrae, Supernumerary... OMIM:271520
Pseudohypoparathyroidism Type 2
Abdominal symptom, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism ORPHA:94090
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hernia, Aplasia/Hypoplasia... ORPHA:2255
Leprechaunism
Skeletal muscle atrophy, Enlarged ovaries, Abdominal distention, Rectal prolapse, Hyperinsulinemi... ORPHA:508
Cree Mental Retardation Syndrome
Cleft soft palate, Rocker bottom foot, Micrognathia, Cryptorchidism, Cutaneous finger syndactyly,... OMIM:606851
H Syndrome
Hallux valgus, Diabetes mellitus, Cleft upper lip, Malabsorption, Microcytic anemia, Recurrent ph... ORPHA:168569
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Enlarged lacrimal glands, Thyroiditis, Xerostomia, Lymphadenopathy, Enlargement of paro... ORPHA:79078
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Distal lower limb amyotrophy, Craniosynostosis, Oral mucosal blisters, Feeding difficulties, Abno... ORPHA:79396
Tarp Syndrome
Meckel diverticulum, Micrognathia, Optic atrophy, Cleft palate, Tongue nodules, Glossoptosis, Hig... OMIM:311900
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Iron deficiency anemia, Colitis, Steatorrhea ORPHA:309031
Lethal Congenital Contracture Syndrome 1
Neonatal death, Micrognathia OMIM:253310
Coffin-Siris Syndrome 4
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... OMIM:614609
Limb-Mammary Syndrome
Absent nipple, Cleft hard palate, Cleft lip, Cleft palate, Bilateral breast hypoplasia, Breast ap... ORPHA:69085
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Bowing of the legs, Abnormal internal carotid artery morphology, Eleva... ORPHA:97685
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... ORPHA:93259
Maternal Phenylketonuria
Ventricular septal defect, Micrognathia, Bifid distal phalanx of the thumb, Esophageal atresia, C... ORPHA:2209
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... OMIM:604292
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Deep philtrum, Gastroesophageal reflux, Atrial septal defect, Patent foram... ORPHA:438213
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental color, Kyphoscoliosis, Precocious puberty, Abnormal toe morphology, Abnorma... OMIM:163200
Ctcf-Related Neurodevelopmental Disorder
Nasogastric tube feeding in infancy, Gastroesophageal reflux, Short philtrum, Joint contracture o... ORPHA:363611
Primrose Syndrome
Skeletal muscle atrophy, Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture... OMIM:259050
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Female hypogonadism, Adrenal hypoplasia, Mi... OMIM:607932
Thymic Carcinoma
Neoplasm of the thymus, Abnormal vena cava morphology, Mediastinal lymphadenopathy ORPHA:99868
Holoprosencephaly 3
Cleft lip, Cleft palate, Solitary median maxillary central incisor, Central diabetes insipidus, B... OMIM:142945
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Vomiting, Decreased liver function OMIM:602199
Gjc2-Related Late-Onset Primary Lymphedema
Ankle swelling, Venous insufficiency, Abnormal lymphatic vessel morphology, Varicose veins, Hypop... ORPHA:568051
Kabuki Syndrome 1
Joint dislocation, Congenital hip dislocation, Premature thelarche, Micrognathia, Feeding difficu... OMIM:147920
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Finger syndactyly, Cardiac myxoma, Congestive heart failure, 3-4 finger cu... OMIM:181270
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Anal atresia, Abnormal dental morphology, Abnormal dental enamel morphology, Aplastic clavicle, M... ORPHA:85199
Heterotaxy, Visceral, 7, Autosomal
Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypo... OMIM:616749
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Combined Oxidative Phosphorylation Deficiency 57
Death in infancy, Nephrogenic diabetes insipidus, Feeding difficulties, Neonatal death, Central d... OMIM:620167
Vascular Ehlers-Danlos Syndrome
Joint dislocation, Congenital hip dislocation, High, narrow palate, Abnormality of the gingiva, O... ORPHA:286
Recon Progeroid Syndrome
Skeletal muscle atrophy, Prominence of the premaxilla, Dental crowding, Arachnodactyly, Proximal ... OMIM:620370
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Thin upper lip vermilion, Lumbar hyperlordosis, Progressive flexion contractures, Equinus calcane... ORPHA:522077
Nicolaides-Baraitser Syndrome
Enlarged joints, Short lingual frenulum, High, narrow palate, Short metatarsal, Prominent interph... OMIM:601358
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism ORPHA:745
Glycogen Storage Disease Ib
Pancreatic fibrosis, Splenomegaly, Neutropenia, Oral ulcer, Inflammation of the large intestine, ... OMIM:232220
Pelvis-Shoulder Dysplasia
Back pain, Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic il... OMIM:169550
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cleft soft palate, Micrognathia, Short neck, Cryptorchidism, Patent ductus arteriosus, Feeding di... ORPHA:2282
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Micrognathia, Abnormal tibia morphology, High palate, Atrial septal defect, Abnormal d... ORPHA:363700
Lymphedema-Distichiasis Syndrome
Diabetes mellitus, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Varicose veins, Webbe... ORPHA:33001
Restrictive Dermopathy 2
Microretrognathia, Rectal prolapse, Hypoplastic facial bones, Feeding difficulties, Overtubulated... OMIM:619793
Fgfr2-Related Bent Bone Dysplasia
Natal tooth, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Micrognathia, ... ORPHA:313855
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Spina bifida, Hiatus hernia, Precocious puberty, C... OMIM:304050
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Mandibular prognathia, Hallux valgus, Papilledema, Dental crowding, Br... OMIM:614188
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Conjunctival telangiectasia, Premature loss of teeth, Multinodular goiter OMIM:618373
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Clinodactyly of the 5th finger OMIM:167730
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Tented upper lip vermilion, Intestinal pseudo-obstruction, Decreased res... ORPHA:273
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Absent nipple, Abnormal oral mucosa morphology, Conical tooth, Hypop... OMIM:305100
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Micrognathia, Thrombocytopenia, Splenomegaly, Retrognathia, Dysphagi... OMIM:608013
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism ORPHA:743
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... OMIM:129900
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Sandal gap, Macrodactyly, Splenomegaly, Spinal dysraphism, Scoliosis, Webbed neck, Venous malform... OMIM:612918
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Recurrent upper respiratory ... ORPHA:2399
Cleft Soft Palate
Cleft soft palate OMIM:119570
Familial Multinodular Goiter
Hyperthyroidism, Alveolar rhabdomyosarcoma, Multinodular goiter, Ovarian neoplasm, Thyroid carcin... ORPHA:276399
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Feeding difficulties, Stillbirth, Decreased liver function, Tongue fasciculatio... OMIM:614922
Williams-Beuren Syndrome
Bicuspid aortic valve, Feeding difficulties in infancy, Rectal prolapse, Flexion contracture, Ear... OMIM:194050
Pagod Syndrome
Encephalocele, Death in infancy, Congenital diaphragmatic hernia, Spina bifida, Situs inversus to... ORPHA:991
Proteus Syndrome
Decreased muscle mass, Pulmonary embolism, Neoplasm of the thymus, Abnormal finger morphology, Ab... ORPHA:744
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters OMIM:619817
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal thumb morphology,... ORPHA:500095
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Tricuspid regurgitation, Cleft soft palate, Kyphoscoliosis, Patent ductu... OMIM:614557
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Fanconi-Bickel Syndrome
Abdominal distention, Poor appetite, Malabsorption OMIM:227810
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Nausea, Intestinal fistula, Functional intestinal obstruction, Episodic a... ORPHA:100078
Costello Syndrome
Hyperextensibility of the finger joints, Redundant neck skin, Limited elbow movement, Micrognathi... OMIM:218040
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Achilles tendon calcification, Elevated circulating parathyroid hormone level, Parathyroid hyperp... OMIM:617994
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cryptorchidism, Feeding difficulties, Death in childhood, Laryngomalacia, Dysphagia, Tube feeding OMIM:619847
Hypophosphatemic Rickets And Hyperparathyroidism
Parathyroid hyperplasia, Hyperparathyroidism, Elevated circulating parathyroid hormone level OMIM:612089
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Ventricular septal defect, Sagittal craniosynostosis, Cryptorch... OMIM:609942
Glycogen Storage Disease Ia
Decreased muscle mass, Gout, Hypertension, Protuberant abdomen, Delayed puberty, Intermittent dia... OMIM:232200
Occipital Horn Syndrome
Short humerus, Orthostatic hypotension, Persistent open anterior fontanelle, Pelvic bone exostose... OMIM:304150
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Decreased circulating cortisol level, Decreased liver function, Neonatal death,... OMIM:618835
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... ORPHA:3405
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Decreased circulating cortisol level, Decreased liver function, Neonatal death,... OMIM:618839
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,... OMIM:263400
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome
Craniosynostosis, Micrognathia, Feeding difficulties, Abnormality of the vertebral column, Laryng... ORPHA:412069
Congenital Laryngeal Web
Abnormal cardiac septum morphology, Laryngomalacia ORPHA:2374
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abdominal distention, Vomiting, Congenital pyloric atresia, Oral mucosal blisters ORPHA:158684
Brachydactyly, Type E1
Short metacarpal, Short metatarsal, Multiple impacted teeth, Short clavicles, Type E brachydactyl... OMIM:113300
Focal Dermal Hypoplasia
Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa... OMIM:305600
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Death in childhood OMIM:619334
Neuroocular Syndrome
Hyperextensibility of the finger joints, Scapular winging, Sacral dimple, Genu recurvatum, Tapere... OMIM:619539
Developmental Delay, Hypotonia, And Impaired Language
Cryptorchidism, Feeding difficulties, Constipation, Gastroesophageal reflux, Neutropenia, Larynge... OMIM:620012
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Arachnodactyly, Broad hallux, Cubitus valgus, Dental malocclusion, High palate, Short finger, Mal... OMIM:601552
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Narrow mouth, Cryptorchidism, Micrognathia OMIM:224410
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Feeding difficulties OMIM:618232
Ablepharon Macrostomia Syndrome
Toe syndactyly, Camptodactyly of finger, Hypoplasia of the maxilla, Wide mouth, Thin vermilion bo... ORPHA:920
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Protruding tongue, Gingival overgrowth, Wide mouth, Laryngomalacia, Gastrostomy tube feeding in i... OMIM:618797
Tracheal Agenesis
Abnormal cardiac septum morphology, Tracheal atresia ORPHA:3346
Oculoectodermal Syndrome
Giant cell granuloma of mandible, Transient ischemic attack, Supernumerary nipple, Short neck, Pa... OMIM:600268
Clapo Syndrome
Macrodactyly, Varicose veins, Capillary malformation of the lip, Lymphangioma, Ganglioneuroma, Ve... ORPHA:168984
Multiple Mitochondrial Dysfunctions Syndrome 1
Neonatal death, Death in infancy, Facial paralysis, Feeding difficulties OMIM:605711
Treacher Collins Syndrome 1
Cleft soft palate, Micrognathia, Cryptorchidism, Cleft palate, Abnormal heart morphology, Wide mo... OMIM:154500
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Abdominal distention, Hepatic failure, Death in infancy OMIM:617156
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Thoracic aortic aneurysm, Ileal atresia, Abdominal distention, Patent ductus arteriosus, Bidirect... OMIM:619351
Laryngomalacia
Laryngomalacia OMIM:150280
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Abnormal jugular vein morp... ORPHA:1677
Juvenile Polyposis Of Infancy
High, narrow palate, Rectal prolapse, Hamartomatous polyposis, Intestinal bleeding, Protein-losin... ORPHA:79076
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Abnormal aortic morphology, Hypertension ORPHA:3222
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... ORPHA:93260
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Arachnodactyly, Congenital diaphragmatic hernia, Micrognathia, Arte... OMIM:614437
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycar... OMIM:126320
Lymphatic Malformation 12
Hydrocele testis, Neonatal death, Death in adolescence OMIM:620014
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Cardiac rhabdomyoma, Aort... ORPHA:805
Raine Syndrome
Mandibular prognathia, Natal tooth, Death in infancy, Micrognathia, Protruding tongue, Gingival o... OMIM:259775
Neurofibromatosis-Noonan Syndrome
Short neck, Secundum atrial septal defect, Cryptorchidism, Cubitus valgus, Neurofibroma, Low post... OMIM:601321
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose veins, Pseudobulbar p... OMIM:125310
Relapsing Polychondritis
Abnormal endocardium morphology, Pericarditis, Chondritis of pinna, Myocarditis, Large vessel vas... ORPHA:728
Xylt1-Cdg
Joint dislocation, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Thick vermilion ... ORPHA:370930
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Cryptorchidism, Subvalvular aortic stenosis, Atrial septal defect, Per... OMIM:613001
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Thymoma, Iron deficiency anemia, Type I... OMIM:269200
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Decreased nerve conduction velocity, Bowing of the... ORPHA:600
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Hand muscle weakness, Centrally nucleated skeletal muscle... OMIM:606070
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, Bowing... OMIM:164310
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Accessory oral frenulum, Congenital diaphragmatic hernia, Short neck, Hamartoma of tongue, Aplast... OMIM:616546
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Retrognathia, Short philtrum, Cleft soft palate, Smooth philtrum ORPHA:293725
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Cleft upper lip, Cryptorchidism, Patent ductus arteriosus, Split hand,... OMIM:600460
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... ORPHA:99050
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Adrenal calcification, Cardiomegaly, Abnormal retinal art... ORPHA:51608
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Thin upper lip vermilion, Cleft palate, Death in childhood, Long philtrum, Neo... OMIM:619124
Cdags Syndrome
Delayed cranial suture closure, Sagittal craniosynostosis, Rectourethral fistula, Kyphosis, Cleft... OMIM:603116
Omphalocele Syndrome, Shprintzen-Goldberg Type
Thin upper lip vermilion, Laryngeal hypoplasia, Feeding difficulties in infancy, Chronic diarrhea... ORPHA:3164
Tracheobronchopathia Osteochondroplastica
Tracheal stenosis, Calcification of cartilage, Esophagitis ORPHA:3348
Dystonia-Aphonia Syndrome
Abnormal vocal cord morphology, Gingival overgrowth, Macroglossia, Dysphagia, Difficulty in tongu... ORPHA:412217
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Neonatal death, Optic disc pallor, Feeding difficulties OMIM:619167
Ivic Syndrome
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Leukocytosis... ORPHA:2307
Ataxia-Telangiectasia
Conjunctival telangiectasia, Diabetes mellitus, Sinusitis, Female hypogonadism, Chronic diarrhea,... OMIM:208900
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion... OMIM:618022
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Thickened nuchal skin fold, Death in infancy, Bicuspid aortic valve, Mitral atresia, Micrognathia... OMIM:220111
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Microphthalmia, Syndromic 1
Dental crowding, Bicuspid aortic valve, High, narrow palate, Rectal prolapse, Orofacial cleft, Hi... OMIM:309800
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Abdominal pain, Vulval varicose vein, Varicose veins, Synco... ORPHA:71273
Mednik Syndrome
Death in infancy, Jejunal atresia, Diarrhea, Death in childhood, Neonatal death, Volvulus, Microc... OMIM:609313
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pharyngitis, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Abdominal distention, D... ORPHA:95455
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Feeding difficulties in infancy, Cryptorchidism... OMIM:618748
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Microretrognathia, Gastroparesis, Cryptorchidism, Death in childhood, Neonatal death, Long philtrum OMIM:614052
Peroxisome Biogenesis Disorder 13A (Zellweger)
Neonatal death, Feeding difficulties, Micrognathia OMIM:614887
Molybdenum Cofactor Deficiency, Complementation Group B
Feeding difficulties, Axonal loss, Thick vermilion border, Long philtrum, Neonatal death, Periphe... OMIM:252160
Aprosencephaly And Cerebellar Dysgenesis
Bifid uvula, Micrognathia OMIM:601374
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating cortisol level, Hemivertebrae, Femoral bowing, Anteriorly placed anus, Decr... OMIM:201750
Alagille Syndrome 1
Hypoplasia of the ulna, Ventricular septal defect, Butterfly vertebral arch, Hemivertebrae, Tetra... OMIM:118450
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Redundant neck skin, Genu recurvatum, Delayed cranial suture closure, Conge... ORPHA:90348
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic nerve hypoplasia, Cleft soft palate, Intestinal malrotation, Leukocytosis, Optic atrophy, D... OMIM:619321
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Torticollis, Varicose veins OMIM:314300
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death, Natal tooth OMIM:609638
Liposarcoma
Nausea and vomiting, Varicose veins, Abdominal pain ORPHA:69078
Unilateral Ocular Duplication
Encephalocele, Laryngomalacia, Median cleft lip, Cleft palate ORPHA:3374
Frontofacionasal Dysplasia
Orofacial cleft, Bifid uvula, Hypoplasia of the frontal bone, Cleft upper lip OMIM:229400
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia, Ventricular septal defect, Bowing of the legs, Mitral valve prolapse, Macr... OMIM:617107
Microcephaly-Micromelia Syndrome
Neonatal death, Narrow mouth, Cleft palate, Micrognathia OMIM:251230
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, High palate, Hypoplasia of the zygomatic bone, Type I diabetes mellitus, Long... OMIM:618500
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Absence of the sacrum, Right atrial isomerism, Ventricular septal def... OMIM:270100
Shprintzen Omphalocele Syndrome
Lumbar hyperlordosis, Laryngeal hypoplasia, Kyphosis, Hypoplasia of the pharynx, Thin vermilion b... OMIM:182210
Axenfeld-Rieger Syndrome, Type 1
Thin upper lip vermilion, Anal stenosis, Decreased response to growth hormone stimulation test, H... OMIM:180500
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... OMIM:212093
Xia-Gibbs Syndrome
Laryngomalacia, Micrognathia OMIM:615829
Ehlers-Danlos Syndrome, Vascular Type
Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Cryptorchidism, Descending aort... OMIM:130050
Igg4-Related Kidney Disease
Pericarditis, Eosinophilia, Abdominal pain, Lymphadenitis, Abnormality of the anterior pituitary,... ORPHA:449395
Meige Disease
Varicose veins, Laryngeal edema, Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Capillary malformation of the lip, Macrodactyly, Venous malformation OMIM:613089
Norrie Disease
Diabetes mellitus, Venous insufficiency, Cryptorchidism, Optic atrophy, Thin vermilion border, Sc... ORPHA:649
Mounier-Kühn Syndrome
Tracheal stenosis ORPHA:3347
Parietal Foramina With Cleidocranial Dysplasia
Short clavicles, Widely patent fontanelles and sutures OMIM:168550
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Splenomegaly, Pancreatic cysts, Esophageal varix, Neonatal death OMIM:263200
Fontaine Progeroid Syndrome
Mandibular prognathia, Thin upper lip vermilion, Death in infancy, Absent nipple, Micrognathia, P... OMIM:612289
Toriello-Lacassie-Droste Syndrome
Aganglionic megacolon, Laryngeal hypoplasia, Feeding difficulties, Short palm, Brachydactyly ORPHA:3339
Congenital Respiratory-Biliary Fistula
Tracheal stenosis ORPHA:2040
Thoracic Outlet Syndrome
Varicose veins ORPHA:97330
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Friedreich Ataxia 2
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Diabetic ketoacid... OMIM:601992
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Cerebral arteriovenous malformation, Pulmonary ar... OMIM:175050
Laryngotracheoesophageal Cleft
Impaired oropharyngeal swallow response, Laryngeal cleft, Laryngomalacia ORPHA:2004
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Familial Cerebral Cavernous Malformation
Cerebral hemorrhage, Neuroma, Scoliosis, Episodic vomiting, Venous malformation ORPHA:221061
Atresia Of Urethra
Abdominal distention ORPHA:105
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Abnormality of the larynx ORPHA:420485
Glomuvenous Malformation
Oral mucosa nodule, Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Abno... ORPHA:83454
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Cleft palate, Abnormal heart morphology, Parathyroid hypop... ORPHA:2237
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:122880
Fraser Syndrome 3
Micrognathia, Short toe, Cutaneous syndactyly, Stillbirth, Tracheal atresia OMIM:617667
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Proximal Renal Tubular Acidosis
Malabsorption, Diarrhea, Enamel hypomineralization, Hypovolemia, Vomiting, Subvalvular aortic ste... ORPHA:47159
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Varicose Veins
Varicose veins OMIM:192200
Alport Syndrome
Renal glomerular foam cells, Hypertension, Abnormal aortic morphology, Vomiting, Dysphagia, Aorti... ORPHA:63
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Anal atresia, Persistent cloaca OMIM:615709
Lymphatic Malformation 13
Neonatal death, Hydrocele testis, Smooth philtrum, Long philtrum OMIM:620244

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hoxa3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hoxa3.

No publications found that use IMPC mice or data for Hoxa3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Hoxa3tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hoxa3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hoxa3tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Hoxa3tm87866(L1L2_gt0_Del_LacZ) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hoxa3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter