Not currently registered for phenotyping at IMPC

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

Gene Summary

homeobox A3
Hox-1.5,  Mo-10

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Hoxa3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Hoxa3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Nasal regurgitation, Dysphagia, Facial palsy, Velopharyngeal insufficiency OMIM:617732
Emanuel Syndrome
Scoliosis, Cryptorchidism, Congenital hip dislocation, Dental crowding, Patent ductus arteriosus,... OMIM:609029
3C Syndrome
Scoliosis, Intestinal malrotation, Death in infancy, Hemivertebrae, Oral cleft, High, narrow pala... ORPHA:7
Mcdonough Syndrome
Cryptorchidism, Short philtrum, Atrial septal defect, Diastasis recti, Ventricular septal defect,... OMIM:248950
Loeys-Dietz Syndrome 2
Scoliosis, Craniosynostosis, Generalized arterial tortuosity, Camptodactyly, Patent ductus arteri... OMIM:610168
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Adrenal hypoplasia, Low posterior hairline, Ventricular septal defect, Decr... OMIM:220210
Atelosteogenesis, Type I
Cryptorchidism, Short metatarsal, Elbow dislocation, Thoracic platyspondyly, Multinucleated giant... OMIM:108720
Glossopharyngeal Neuralgia
Tongue pain, Mandibular pain, Malnutrition, Feeding difficulties, Abnormal palate morphology, Cra... ORPHA:221098
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Metaphyseal irregularity, Bowing of the legs, Delayed epiphyseal ossification, Squared... ORPHA:93352
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Short neck, Underdeveloped nasal alae, Ventricular septal defect, Webbed neck... ORPHA:2516
Carey-Fineman-Ziter Syndrome
Scoliosis, Long philtrum, Thin vermilion border, Short nose, Pierre-Robin sequence, Abnormality o... ORPHA:1358
Atelosteogenesis Type I
Scoliosis, Platyspondyly, Short femur, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Loeys-Dietz Syndrome 1
Scoliosis, Craniosynostosis, Camptodactyly, Patent ductus arteriosus, Aortic root aneurysm, Mitra... OMIM:609192
Atelosteogenesis Type Ii
Short phalanx of finger, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatars... ORPHA:56304
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Oral ulcer, Lymph node hypoplasia, Diarrhea OMIM:602450
Mend Syndrome
Overlapping fingers, Cryptorchidism, Overlapping toe, Microretrognathia, Polydactyly, Kyphosis, 2... OMIM:300960
Emanuel Syndrome
Scoliosis, Cryptorchidism, Congenital hip dislocation, Dental crowding, Submucous cleft lip, Pate... ORPHA:96170
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Death in childhood OMIM:200900
Cleft Velum
Oral-pharyngeal dysphagia, Nasal regurgitation, Cleft soft palate, Poor suck, Velopharyngeal insu... ORPHA:99772
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Delayed eruption of teeth, Hyperlordosis, Large iliac wing, High, narrow palate, High ... ORPHA:2780
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Peters Plus Syndrome
Cryptorchidism, Patent ductus arteriosus, Congenital hypothyroidism, Spina bifida occulta, Exagge... ORPHA:709
Double Outlet Right Ventricle
Abnormality of cartilage of external ear, Truncus arteriosus, Narrow mouth, Feeding difficulties,... ORPHA:3426
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral regurgitation, Abnormal thumb morphology, Bulbous nose, Mandibular prognathia, Everted low... ORPHA:324410
Monosomy 22
Hypochromic microcytic anemia, Thin vermilion border, Aplasia of the thymus, Short neck, Long phi... ORPHA:96123
Chromosome 18Q Deletion Syndrome
Scoliosis, Cryptorchidism, Downturned corners of mouth, Mandibular prognathia, Patent ductus arte... OMIM:601808
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Scoliosis, Vertebral hypoplasia, Epiphyseal stippling, Adrenal hypoplasia, Single ventricle, Cong... OMIM:308050
14Q24.1Q24.3 Microdeletion Syndrome
Cryptorchidism, Long philtrum, Atrial septal defect, Truncus arteriosus, Short nose, Dislocated r... ORPHA:401935
Cleft Lip/Palate
Poor suck, Agenesis of lateral incisor, Malnutrition, Feeding difficulties in infancy, Hypoplasia... ORPHA:199306
Congenital Hypothyroidism
Oral cleft, Sinusitis, Macroglossia, Constipation, Abnormal pericardium morphology, Hypogonadism,... ORPHA:442
Baraitser-Winter Syndrome 1
Cryptorchidism, Long philtrum, Low posterior hairline, Short nose, Duplication of phalanx of hall... OMIM:243310
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Mucopolysaccharidosis, Type Ivb
Scoliosis, Carious teeth, Constricted iliac wing, Mandibular prognathia, Ovoid vertebral bodies, ... OMIM:253010
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Scoliosis, Multiple joint dislocation, Hip subluxation, Laryngotracheomalacia, Metaphyseal irregu... ORPHA:93360
Trisomy 17P
Scoliosis, Narrow mouth, Patent ductus arteriosus, Oral cleft, Skeletal muscle atrophy, High pala... ORPHA:261290
Frontometaphyseal Dysplasia 2
Scoliosis, Cryptorchidism, Short metatarsal, Congenital hip dislocation, Camptodactyly, Patent du... OMIM:617137
Diastrophic Dysplasia
Costal cartilage calcification, Hypoplastic cervical vertebrae, Hitchhiker thumb, Laryngotracheal... OMIM:222600
Scheie Syndrome
Genu valgum, Aortic regurgitation, Mandibular prognathia, Spondylolisthesis, Aortic valve stenosi... OMIM:607016
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia, Truncus arteriosus, Stillbirth, Abnormality of the endocrine system OMIM:274210
Stankiewicz-Isidor Syndrome
Cryptorchidism, Truncus arteriosus, Feeding difficulties, Ventricular septal defect, 2-3 toe synd... OMIM:617516
Treacher-Collins Syndrome
Open bite, Cryptorchidism, Abnormal dental enamel morphology, Narrow mouth, Choanal atresia, Pate... ORPHA:861
Polyvalvular Heart Disease Syndrome
Short philtrum, Arrhythmia, Dental crowding, Abnormal heart valve morphology, High palate, Tricus... ORPHA:228410
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Abdominal colic, Diarrhea, Abdominal distention ORPHA:35122
Pallister-Hall Syndrome
Cryptorchidism, Y-shaped metacarpals, Natal tooth, Choanal atresia, Patent ductus arteriosus, Hem... OMIM:146510
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Cryptorchidism, Bulbous nose, Patent ductus arteriosus, Micrognathia, Ectopic thyroid, Neoplasm o... ORPHA:3047
Bilateral Polymicrogyria
Pseudobulbar paralysis, Facial diplegia, Drooling, Difficulty in tongue movements, Feeding diffic... ORPHA:268940
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Bulbous nose, Laryngotracheomalacia, Metaphyseal irregularity, Thoracic kyphosis, Mandibular prog... OMIM:271510
Dandy-Walker Malformation With Postaxial Polydactyly
Postaxial hand polydactyly, Microretrognathia, Patent ductus arteriosus, Vascular dilatation, Wid... OMIM:220220
Psychomotor Retardation, Epilepsy, And Craniofacial Dysmorphism
Macroglossia, Broad thumb, Bulbous nose, Feeding difficulties, Wide mouth, Umbilical hernia, Broa... OMIM:614501
Acrocardiofacial Syndrome
Cryptorchidism, Split hand, Death in infancy, Abnormality of the metacarpal bones, Hallux valgus,... ORPHA:2008
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Scoliosis, Cryptorchidism, Oligodontia, Craniosynostosis, Underdeveloped nasal alae, Branchial an... ORPHA:453499
Smith-Magenis Syndrome
Scoliosis, Abnormal heart morphology, Mandibular prognathia, Abnormality of the larynx, Constipat... OMIM:182290
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Goiter, Abnormality of epiphysis morphology, Protuberant abdomen, Decreased circula... ORPHA:226313
Familial Thyroid Dyshormonogenesis
Macroglossia, Increased radioactive iodine uptake, Goiter, Delayed proximal femoral epiphyseal os... ORPHA:95716
Monosomy 18Q
Left aortic arch with right descending aorta and right ductus arteriosus, Bulbous nose, Open mout... ORPHA:1600
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Cryptorchidism, Narrow mouth, Flexion contracture, Abnormality of primary teeth, Wide nasal bridg... ORPHA:75496
Myhre Syndrome
Cryptorchidism, Narrow mouth, Pericardial effusion, Mandibular prognathia, Patent ductus arterios... OMIM:139210
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Dysphagia, Laryngotracheal stenosis, Broad neck, Abnormal s... ORPHA:142
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Underdeveloped nasal alae, Smooth philtrum, Thin upper lip vermilion, Cleft p... OMIM:611867
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Bulbous nose, Broad thumb, Coarctation of aorta, Patent ductus arteriosus, Bi... OMIM:612474
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Open bite, Cryptorchidism, Scoliosis, Craniosynostosis, Lambdoidal craniosynostosis, Underdevelop... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Open bite, Cryptorchidism, Scoliosis, Craniosynostosis, Lambdoidal craniosynostosis, Underdevelop... ORPHA:352665
Sponastrime Dysplasia
Scoliosis, Hip subluxation, Hypoplasia of the nasal bone, Metaphyseal irregularity, Mandibular pr... ORPHA:93357
Robin Sequence With Cleft Mandible And Limb Anomalies
Hip subluxation, Narrow mouth, Short phalanx of finger, Aplasia of the epiglottis, Acetabular dys... OMIM:268305
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Lymphopenia, Emphysema, Chronic diarrhea, Recurrent bronch... OMIM:242700
Verloove Vanhorick-Brubakk Syndrome
Cryptorchidism, Abnormality of femur morphology, Tarsal synostosis, Abnormal form of the vertebra... ORPHA:3429
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Cryptorchidism, Branchial cyst, Dental crowding, Finger syndactyly, Mandibular prognathia, Campto... ORPHA:435938
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Tonne-Kalscheuer Syndrome
Cryptorchidism, Broad thumb, Narrow mouth, Downturned corners of mouth, Abnormal heart morphology... OMIM:300978
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, Pancreatic lymphangiectasis, Death in infancy, Alveolar ridge overgrowth, High pa... OMIM:235255
Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Cryptorchidism, Narrow mouth, Optic disc coloboma, Abnormality of the elbow, Slender l... ORPHA:536471
Chromosome 8Q22.1 Duplication Syndrome
Cubitus valgus, Short metatarsal, Enlarged interphalangeal joints, Abnormality of the vertebral c... OMIM:151200
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Webbed neck, Short dist... OMIM:601355
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Platyspondyly, Aplasia of the thymus, Autoimmune thrombocytopenia, Auto... OMIM:102700
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Oligodontia, Craniosynostosis, Short metatarsal, Short phalanx... ORPHA:1826
Microphthalmia, Syndromic 9
Cryptorchidism, Single ventricle, Patent ductus arteriosus, Multilobulated spleen, Congenital dia... OMIM:601186
Cohen Syndrome
Facial hypotonia, Short metatarsal, Open mouth, Neutropenia, Delayed puberty, Leukopenia, Mitral ... OMIM:216550
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Short philtrum, Mandibular prognathia, Tented upper lip vermilion, Wide nasal bridge, Congenital ... ORPHA:521445
Chromosome 22Q11.2 Duplication Syndrome
High palate, Micrognathia, Velopharyngeal insufficiency OMIM:608363
22Q11.2 Deletion Syndrome
Scoliosis, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Bulbous nose, Narrow... ORPHA:567
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Abnormal vertebral morphology, Ventricular septal ... ORPHA:210122
Orofacial Cleft 13
Cleft soft palate, Oligodontia, Micrognathia, Retrognathia OMIM:613857
Weill-Marchesani Syndrome 2
Scoliosis, Narrow palate, Short metatarsal, Patent ductus arteriosus, High palate, Broad phalange... OMIM:608328
Thyroid agenesis, Macroglossia, Feeding difficulties, Hypothyroidism, Constipation, Abdominal dis... ORPHA:95713
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Broad thumb, Thoracic kyphosis, Mandibular prognathia, Abnormality of the... ORPHA:508498
Orofaciodigital Syndrome Type 14
Postaxial hand polydactyly, Deviation of the hallux, Bulbous nose, Ventricular septal defect, Mic... ORPHA:434179
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Delayed proxi... ORPHA:90674
X-Linked Mandibulofacial Dysostosis
Cryptorchidism, Branchial anomaly, Abnormal mitral valve morphology, Webbed neck, Pulmonic stenos... ORPHA:1131
Arterial Tortuosity Syndrome
Long philtrum, Hiatus hernia, Ventricular hypertrophy, Aortic tortuosity, Ischemic stroke, Aortic... OMIM:208050
Achondrogenesis Type 1A
Thickened nuchal skin fold, Cystic hygroma, Long philtrum, Short neck, Short nose, Umbilical hern... ORPHA:93299
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Puerto Rican Infant Hypotonia Syndrome
Long philtrum, Cryptorchidism, Narrow palate, Drooling, Open mouth, Constipation, Chronic constip... OMIM:600096
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Long philtrum, Abnormal heart morphology, Hypothyroidism, Camptodactyly, Patent d... OMIM:608104
Truncus Arteriosus
Abnormal coronary artery morphology, Abnormal heart valve physiology, Patent ductus arteriosus, P... ORPHA:3384
Permanent Congenital Hypothyroidism
Macroglossia, Goiter, Feeding difficulties, Hypothyroidism, Constipation, Umbilical hernia, Thyro... ORPHA:226292
Carpenter Syndrome 1
Scoliosis, Cryptorchidism, Lambdoidal craniosynostosis, Flared iliac wing, Camptodactyly, Patent ... OMIM:201000
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Distal 22Q11.2 Microdeletion Syndrome
Narrow mouth, Underdeveloped nasal alae, Choanal atresia, Sandal gap, Short distal phalanx of fin... ORPHA:261330
Thoracolaryngopelvic Dysplasia
Scoliosis, Hypoplastic pelvis, Hypoplastic iliac wing, Irregular vertebral endplates, Laryngeal s... OMIM:187760
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Hip subluxation, Downturned corners of mouth, Patent ductus arteriosus, Aortic roo... ORPHA:444077
7Q11.23 Microduplication Syndrome
Cryptorchidism, Thin vermilion border, Craniosynostosis, Patent ductus arteriosus, Hemivertebrae,... ORPHA:96121
Colonic Atresia
Abdominal distention, Colonic atresia OMIM:303650
Esophageal Atresia
Scoliosis, Laryngotracheomalacia, Choanal atresia, Intestinal malrotation, Vomiting, Maternal dia... ORPHA:1199
Arthrogryposis, Distal, Type 1C
Pursed lips, Cryptorchidism, Thin vermilion border, Scoliosis, Narrow mouth, Wrist flexion contra... OMIM:619110
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Ventricular septal defect, Abnormal aortic morphology, Tooth agenesis, Cleft pala... ORPHA:1166
Hajdu-Cheney Syndrome
Open bite, Wormian bones, Thin vermilion border, Scoliosis, Hypoplastic 5th lumbar vertebrae, Nar... ORPHA:955
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Scoliosis, Ventricular hypertrophy, Short phalanx of finger, Elbow dislocation, Tricuspid regurgi... OMIM:143095
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Hypoplasia of the ulna, Neonatal death, Syndactyly... OMIM:228940
Adducted Thumbs Syndrome
Dysphagia, Cleft palate, High palate, High, narrow palate, Velopharyngeal insufficiency OMIM:201550
Fraser Syndrome 1
Cryptorchidism, Underdeveloped nasal alae, Dental crowding, Wide nose, Depressed nasal bridge, Di... OMIM:219000
Congenital Pancreatic Cyst
Vomiting, Anorexia, Abdominal distention, Abdominal pain ORPHA:313906
Brachytelephalangic Chondrodysplasia Punctata
Tracheal calcification, Epiphyseal stippling, Short distal phalanx of toe, Patent ductus arterios... ORPHA:79345
Mend Syndrome
Long neck, Cryptorchidism, Abnormal auditory evoked potentials, High palate, Micrognathia, Aortic... ORPHA:401973
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormality of the parathyroid gland, Secondary hyperparathyroidism ORPHA:140286
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased circulating T4 level, Pituitary hypothyroidism, Anterior pituitary hypoplasia, Inapprop... ORPHA:226307
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Hypoplastic sacrum, Atrial septal defect, Laryngotracheomalacia, Spinal dysraphism, Aortic valve ... OMIM:617660
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Ovoid vertebral bodies, Decreased proportion of naive C... ORPHA:1830
Weill-Marchesani Syndrome 1
Scoliosis, Narrow palate, Tooth malposition, Abnormality of dental morphology, Ventricular septal... OMIM:277600
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Stillbirth, Pulmonic stenosis, Aortic valve stenosis,... OMIM:615415
Qazi-Markouizos Syndrome
Cryptorchidism, Hypoplasia of teeth, Open mouth, Broad philtrum, Drooling, Delayed ossification o... ORPHA:3010
Coffin-Siris Syndrome 10
Ventricular septal defect, Wide mouth, Persistence of primary teeth, Laryngomalacia, Clinodactyly... OMIM:618506
Kleefstra Syndrome Due To 9Q34 Microdeletion
Cryptorchidism, Macroglossia, Short nose, Downturned corners of mouth, Abnormal testis morphology... ORPHA:96147
Subaortic Stenosis-Short Stature Syndrome
Scoliosis, Abnormal vocal cord morphology, Short neck, Arrhythmia, Membranous subvalvular aortic ... ORPHA:3191
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior vena c... ORPHA:185
Hypothyroidism Due To Tsh Receptor Mutations
Compensated hypothyroidism, Macroglossia, Increased radioactive iodine uptake, Delayed proximal f... ORPHA:90673
Scoliosis, Cryptorchidism, Branchial anomaly, Spinal dysraphism, Choanal atresia, Solitary median... ORPHA:2162
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Thin anteverted nares, Feeding difficulties, Abnormal aortic ... ORPHA:2306
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Hypoplasia of the premaxilla, Postaxial hand polydactyly, Adrenal hypoplasia, Nar... ORPHA:2166
Cystic hygroma, Abnormality of the mouth, Short neck, Short nose, Genu recurvatum, Protuberant ab... ORPHA:221054
Orofaciodigital Syndrome Xiv
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Microretrognathia, Natal tooth, ... OMIM:615948
Tick-Borne Encephalitis
Abnormal cranial nerve morphology, Leukocytosis, Dysphagia, Nausea, Back pain, Abnormal autonomic... ORPHA:297
Jacobsen Syndrome
Scoliosis, Cryptorchidism, Broad hallux phalanx, Intestinal malrotation, Death in infancy, Toe cl... ORPHA:2308
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... OMIM:614980
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Scoliosis, Respiratory tract infection, Decreased motor nerve conduction velocity, Decreased sens... OMIM:218000
Fraser Syndrome
Cryptorchidism, Underdeveloped nasal alae, Dental crowding, Death in infancy, Oral cleft, High pa... ORPHA:2052
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Goiter, Bronchiectasis, Hypothyroidism, Dextrocardia, Right aortic arch OMIM:617577
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastrointestinal dysmotility, Decreased motor nerve conduction velocity, Decreased sensory nerve ... ORPHA:298
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Camptodactyly, Sagittal craniosynostosis, Aortic valve stenosis, Small hand... ORPHA:459061
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Long philtrum, Short neck, Narrow palate, Ventricular septal defect, Thoraci... OMIM:617022
Pallister-Hall Syndrome
Cryptorchidism, Broad thumb, Natal tooth, Choanal atresia, Pituitary hypothyroidism, Patent ductu... ORPHA:672
Lujan-Fryns Syndrome
Scoliosis, Camptodactyly of finger, Short philtrum, Atrial septal defect, Dental crowding, Macroo... ORPHA:776
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Smooth philtrum, Increased mean platelet volume, Intestinal pseudo-obstru... OMIM:300048
Mucolipidosis Iii Gamma
Scoliosis, Genu valgum, Hyperlordosis, Aortic regurgitation, Flared iliac wing, Kyphosis, Aortic ... OMIM:252605
Splenogonadal Fusion With Limb Defects And Micrognathia
Stillbirth, Micrognathia, Multiple unerupted teeth OMIM:183300
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Flexion contracture of thumb, Broad thumb, Narrow mouth, Feeding difficulties, Duplication of dis... ORPHA:324540
Partial Atrioventricular Septal Defect
Atrial flutter, Patent ductus arteriosus, Coronary sinus enlargement, Double outlet right ventric... ORPHA:1330
Thyroid Hemiagenesis
Thyroid agenesis, Macroglossia, Constipation, Abdominal distention ORPHA:95719
Ascher Syndrome
Abnormality of upper lip, Goiter, Hypothyroidism, High palate, Wide nose, Deviation of finger ORPHA:1253
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Malnutrition, Abdominal pain, Constipation, Abdominal distention, Malabsorption, Gastrointestinal... OMIM:613662
Femoral-Facial Syndrome
Scoliosis, Cryptorchidism, Short fifth metatarsal, Underdeveloped nasal alae, Dysplastic sacrum, ... OMIM:134780
Aarskog-Scott Syndrome
Cryptorchidism, Oral cleft, Short neck, Hypoplasia of the maxilla, Long philtrum, Genu recurvatum... ORPHA:915
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Congenital muscular torticollis, High, narrow palate, Micrognathia, Elbow flexion cont... ORPHA:536516
Cowden Syndrome 5
Scoliosis, Hydrocele testis, Ovarian cyst, Goiter, Narrow mouth, Thyroiditis, Hypothyroidism, Hig... OMIM:615108
Distal Monosomy 17Q
Abnormal thumb morphology, Narrow mouth, Abnormality of the philtrum, Aplasia/Hypoplasia of the u... ORPHA:1597
Frontonasal Dysplasia 1
Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Hypoplastic frontal sinuses, Camp... OMIM:136760
Temple Syndrome
Scoliosis, Cryptorchidism, Maturity-onset diabetes of the young, Short philtrum, Feeding difficul... OMIM:616222
Loeys-Dietz Syndrome 4
Scoliosis, Arterial tortuosity, Protrusio acetabuli, Aortic tortuosity, Aortic dissection, Emphys... OMIM:614816
Cardiocranial Syndrome, Pfeiffer Type
Cryptorchidism, Small hypothenar eminence, Cutaneous syndactyly of toes, Temporomandibular joint ... ORPHA:2872
Congenital Pulmonary Valvar Stenosis
Atrial septal defect, Laryngeal stenosis ORPHA:3189
Lambert Syndrome
Malar flattening, Wide mouth, Branchial anomaly, Ventricular septal defect ORPHA:1296
Microphthalmia, Syndromic 2
Scoliosis, Cryptorchidism, Oligodontia, Patent ductus arteriosus, Sandal gap, Hammertoe, Dextroca... OMIM:300166
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormality of neck blood vessel, ... ORPHA:319487
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Death in infancy, Hemivertebrae, Vertebral fusion, Abdominal distention, Abnormality o... OMIM:277300
Auriculocondylar Syndrome 3
Laryngeal cleft, Glossoptosis, Bifid uvula, Retrognathia, Micrognathia OMIM:615706
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Craniosynostosis, Bulbous nose, Narrow mouth, Open mouth, Short phalan... ORPHA:508533
Robinow Syndrome, Autosomal Dominant 2
Cryptorchidism, Broad thumb, Dental crowding, Short distal phalanx of finger, Partial duplication... OMIM:616331
Satb2-Associated Syndrome Due To A Pathogenic Variant
Long philtrum, Broad thumb, Drooling, Dysphagia, Gastroesophageal reflux, Smooth philtrum, Abnorm... ORPHA:576283
Genetic Transient Congenital Hypothyroidism
Macroglossia, Goiter, Feeding difficulties, Decreased circulating T4 level, Abnormal radioactive ... ORPHA:226316
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Thin vermilion border, Long philtrum, Craniosynostosis, Short nose, Radioulnar sy... ORPHA:171839
Wolman Disease
Bone-marrow foam cells, Malnutrition, Steatorrhea, Esophageal varix, Adrenal insufficiency, Anemi... ORPHA:75233
Brain-Lung-Thyroid Syndrome
Compensated hypothyroidism, Atrial septal defect, Pulmonary fibrosis, Ventricular septal defect, ... ORPHA:209905
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Papilledema, Double outlet right ventricle, Mitral valve prolapse, Premature thelarche, Sclerotic... ORPHA:371428
Cowden Syndrome 6
Scoliosis, Hydrocele testis, Ovarian cyst, Goiter, Narrow mouth, Thyroiditis, Hypothyroidism, Hig... OMIM:615109
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis, Microdontia, Malar flattening, Everted lower lip vermilion DECIPHER:3
Maxillonasal Dysplasia
Open bite, Scoliosis, Patchy distortion of vertebrae, Short nose, Mandibular prognathia, Tooth ag... ORPHA:1248
Volvulus Of Midgut
Constipation, Intestinal malrotation, Volvulus, Abdominal distention, Neonatal intestinal obstruc... OMIM:193250
Velocardiofacial Syndrome
Cryptorchidism, Right aortic arch with mirror image branching, Bulbous nose, Underdeveloped nasal... OMIM:192430
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Cryptorchidism, Thin vermilion border, Long philtrum, Feeding difficulties, Short fourth metatars... ORPHA:464288
Distal 22Q11.2 Microduplication Syndrome
Scoliosis, Cryptorchidism, Bulbous nose, Optic disc coloboma, Mandibular prognathia, Patent ductu... ORPHA:261337
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cryptorchidism, Downturned corners of mouth, Patent ductus arteriosus, Abnormal cardiac septum mo... OMIM:217980
Recombinant Chromosome 8 Syndrome
Scoliosis, Cryptorchidism, Downturned corners of mouth, Camptodactyly, Patent ductus arteriosus, ... OMIM:179613
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Coffin-Lowry Syndrome
Scoliosis, Narrow palate, Open mouth, Short distal phalanx of finger, Skeletal muscle atrophy, Hi... ORPHA:192
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Platyspondyly, Short philtrum, Thin vermilion border, Short m... OMIM:156510
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Atrial septal defect, Overlapping toe, Abnormal heart morphology, Camptodactyly, P... ORPHA:363444
Hypomandibular Faciocranial Dysostosis
Pursed lips, Atrial septal defect, Aglossia, Patent ductus arteriosus, Coronal craniosynostosis, ... OMIM:241310
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Scoliosis, Cryptorchidism, Underdeveloped nasal alae, Polydactyly, Nasogastric tube feeding in in... ORPHA:268261
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Thin vermilion border, Delayed epiphyseal ossification, Meta... OMIM:602557
Greenberg Dysplasia
Tracheal calcification, Epiphyseal stippling, Short phalanx of finger, Intestinal malrotation, Sa... OMIM:215140
Atresia Of Small Intestine
Feeding difficulties, Intestinal hypoplasia, Intestinal malrotation, Jejunal atresia, Vomiting, A... ORPHA:1201
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Long philtrum, Thin vermilion border, Short metatarsal, Pseudohypoparathyroidism, Short metacarpa... OMIM:617157
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Scoliosis, Oligodontia, Short metatarsal, Bulbous nose, Short phalanx of finge... OMIM:170390
Stickler Syndrome Type 1
Long philtrum, Platyspondyly, Abnormality of vertebral epiphysis morphology, Short nose, Abnormal... ORPHA:90653
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Sc phocomelia syndrome
Wormian bones, Underdeveloped nasal alae, Aplasia of the ulna, Radial deviation of finger, Aortic... OMIM:269000
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormality of neck blood vessel, ... ORPHA:97290
Fibrochondrogenesis 1
Narrow mouth, Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Patent foramen ova... OMIM:228520
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Hypoplasia of the capital femoral epiphysis, Hypoplastic pelvis, Hypoplastic scapu... ORPHA:85166
Premature Aging Syndrome, Penttinen Type
Scoliosis, Delayed eruption of teeth, Thin vermilion border, Wormian bones, Elevated circulating ... OMIM:601812
Schimke Immunoosseous Dysplasia
Bulbous nose, Thoracic kyphosis, Arteriosclerosis, Ovoid vertebral bodies, Elevated circulating t... OMIM:242900
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Abnormal autonomic nervous system ph... ORPHA:83601
Digeorge Syndrome
Scoliosis, Right aortic arch with mirror image branching, Short philtrum, Decreased circulating p... OMIM:188400
Mesomelia-Synostoses Syndrome
Abnormality of tibia morphology, Narrow mouth, Bulbous nose, Abnormality of the metacarpal bones,... ORPHA:2496
Classical-Like Ehlers-Danlos Syndrome Type 2
Cryptorchidism, Narrow palate, Elbow dislocation, Phalangeal dislocation, Pericardial effusion, L... ORPHA:536532
Kagami-Ogata Syndrome
Long philtrum, Diastasis recti, Atrial septal defect, Ventricular septal defect, Hypoplasia of th... OMIM:608149
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, Postaxial hand polydactyly, Short neck, Broad nasal ... ORPHA:1655
Atypical Werner Syndrome
Thin vermilion border, Ovarian neoplasm, Delayed puberty, Type II diabetes mellitus, Skeletal mus... ORPHA:79474
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Camptodactyly of finger, Abnormal dental enamel morphology, ... ORPHA:2908
Meacham Syndrome
Pulmonary sequestration, Cryptorchidism, Anomalous pulmonary venous return, Atrial septal defect,... ORPHA:3097
Martsolf Syndrome 1
Cryptorchidism, Short phalanx of finger, Slender ulna, Metatarsus adductus, Cardiac arrest, Broad... OMIM:212720
Thyroid Hypoplasia
Macroglossia, Hypothyroidism, Constipation, Thyroid hypoplasia, Abdominal distention ORPHA:95720
Rhizomelic Limb Shortening With Dysmorphic Features
Long philtrum, Short 5th finger, Short neck, Smooth philtrum, Laryngomalacia, Wide nasal bridge, ... OMIM:618821
Atelosteogenesis, Type Iii
Scoliosis, Cervical segmentation defect, Widened distal phalanges, Radial bowing, Short neck, Elb... OMIM:108721
Gaucher Disease, Type I
Erlenmeyer flask deformity of the femurs, Epistaxis, Hypertension, Pancytopenia, Thrombocytopenia... OMIM:230800
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatic failure, Death in infancy, Abdominal distention, Feeding difficulties OMIM:618528
Open bite, Cryptorchidism, Epiphyseal stippling, Short metatarsal, Open mouth, Mandibular prognat... ORPHA:950
Hemifacial Microsomia
Vertebral hypoplasia, Hypoplasia of facial musculature, Branchial anomaly, Ventricular septal def... OMIM:164210
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Cryptorchidism, Carious teeth, Narrow palate, Cardiac conduction abnormality, Abnormal proximal p... ORPHA:353281
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cryptorchidism, Abnormal anterior horn cell morphology, Facial diplegia, Feeding difficulties, Ne... OMIM:611890
Vater/Vacterl Association
Scoliosis, Choanal atresia, Patent ductus arteriosus, Absent radius, Short thumb, Triphalangeal t... OMIM:192350
Rhizomelic Syndrome, Urbach Type
Abnormality of the tongue, Abnormality of the knee, Triphalangeal thumb, Preaxial hand polydactyl... ORPHA:3098
Acrofacial Dysostosis 1, Nager Type
Scoliosis, Patent ductus arteriosus, Absent radius, Micrognathia, Triphalangeal thumb, Hallux val... OMIM:154400
Cowden Syndrome 1
Scoliosis, Hydrocele testis, Ovarian cyst, Goiter, Narrow mouth, Thyroiditis, Hypothyroidism, Lym... OMIM:158350
Adiposis Dolorosa
Constipation, Abdominal distention OMIM:103200
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Cryptorchidism, Hydrocele testis, Carious teeth, Narrow palate, Cardiac conduction abnormality, A... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Cryptorchidism, Hydrocele testis, Carious teeth, Narrow palate, Cardiac conduction abnormality, A... ORPHA:353277
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Cryptorchidism, Atrial septal defect, Craniosynostosis, Downturned corners of mouth, Ventricular ... ORPHA:457193
Multiple Endocrine Neoplasia Type 2
Abnormal tongue morphology, Diarrhea, Primary hyperparathyroidism, Elevated circulating parathyro... ORPHA:653
Familial Visceral Myopathy
Camptodactyly of finger, Anteverted nares, Aganglionic megacolon, Umbilical hernia, Abdominal dis... ORPHA:2604
Proteus-Like Syndrome
Open bite, Genu recurvatum, Mandibular prognathia, Polycystic ovaries, Bronchogenic cyst, Abnorma... ORPHA:2969
Cohen Syndrome
Scoliosis, Cryptorchidism, Open mouth, Aplasia/Hypoplasia of the tongue, Neutropenia, Sandal gap,... ORPHA:193
Stillbirth OMIM:265880
Thyroid Dyshormonogenesis 1
Macroglossia, Goiter, Hypothyroidism, Constipation, Umbilical hernia OMIM:274400
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Elbow dislocation, Congenital muscular torticollis, Intestinal malrotation, Abnormal... ORPHA:2538
Diabetic Embryopathy
Cryptorchidism, Ventricular septal defect, Abnormal aortic morphology, Spinal dysraphism, Cleft p... ORPHA:1926
Enamel hypoplasia, Delayed eruption of teeth, Short metatarsal, Pseudohypoparathyroidism, Short m... OMIM:612463
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the upper limbs, Antecubital pterygium, Bradycardia, Hypopl... ORPHA:40366
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Scoliosis, Underdeveloped nasal alae, Patent ductus arteriosus, Anemia, Abnormality of the metaph... ORPHA:2637
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Absent uvula, Broad thumb, Short nose, Broad nasal tip, Camptodactyly, Abnormality... OMIM:618529
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Scoliosis, Cryptorchidism, Short toe, Flexion contracture of finger, Feeding difficulties, Ventri... ORPHA:464311
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short phalanx of finger, Short femoral neck, High palate, Flat capital femoral epiphysis, Depress... OMIM:612350
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Mandibular prognathia, Kyphosis, High palate, Arachnodactyly, Prominent nasal bridge, ... OMIM:300676
Shwachman-Diamond Syndrome 2
Metaphyseal irregularity, Hyperechogenic pancreas, Neutropenia, Steatorrhea, Laryngomalacia, Thro... OMIM:617941
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Carious teeth, Thin vermilion border, Short nose, Thick lower lip vermilion, Webb... ORPHA:2701
Dyrk1A-Related Intellectual Disability Syndrome
Scoliosis, Cryptorchidism, Polydactyly, Patent ductus arteriosus, Anterior pituitary hypoplasia, ... ORPHA:464306
Singleton-Merten Syndrome 1
Carious teeth, Hip subluxation, Expanded metatarsals with widened medullary cavities, Expanded ph... OMIM:182250
Noonan Syndrome 5
Cryptorchidism, Cubitus valgus, Atrial septal defect, Arrhythmia, Webbed neck, Mandibular prognat... OMIM:611553
Pde4D Haploinsufficiency Syndrome
Cryptorchidism, Abnormal dental enamel morphology, Short metatarsal, Short phalanx of finger, Man... ORPHA:439822
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Talon cusp, Craniosynostosis, Short nose, Downturned corners o... ORPHA:2409
Maffucci Syndrome
Neoplasm of the parathyroid gland, Scoliosis, Goiter, Ovarian neoplasm, Dysphagia, Multiple encho... ORPHA:163634
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis, Clubbing, Lymphocytic interstitial pneumonia OMIM:247610
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency, Pulmonary fibrosis OMIM:617175
Mucolipidosis Ii Alpha/Beta
Flared iliac wing, Carpal bone hypoplasia, Ovoid vertebral bodies, Beaking of vertebral bodies T1... OMIM:252500
Codas Syndrome
Scoliosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Short nose, Abnormality ... ORPHA:1458
Catel-Manzke Syndrome
Cystic hygroma, Cryptorchidism, Short neck, Ventricular septal defect, Coarctation of aorta, Camp... OMIM:616145
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Short nose, Polydactyly, Cleft upper lip, Cleft palate, Short neck, A... OMIM:613885
20P12.3 Microdeletion Syndrome
Long philtrum, Atrial septal defect, Broad thumb, Narrow mouth, Wolff-Parkinson-White syndrome, B... ORPHA:261295
Geleophysic Dysplasia 1
Long philtrum, Camptodactyly of finger, Short nose, Smooth philtrum, Wide mouth, Short foot, Tric... OMIM:231050
Hutchinson-Gilford Progeria Syndrome
Limited wrist movement, Thin vermilion border, Ventricular hypertrophy, Narrow mouth, Dental crow... ORPHA:740
8Q24.3 Microdeletion Syndrome
Congenital hip dislocation, Branchial cyst, Patent ductus arteriosus, Nasogastric tube feeding in... ORPHA:508488
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ... ORPHA:363417
Acrodysostosis 1 With Or Without Hormone Resistance
Scoliosis, Cryptorchidism, Epiphyseal stippling, Short metatarsal, Short phalanx of finger, Mandi... OMIM:101800
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
EMG: myopathic abnormalities, Wrist drop, Hip subluxation, Mitral valve prolapse, High, narrow pa... ORPHA:1900
Tetrasomy 12P
Delayed eruption of teeth, Long philtrum, Short nose, Downturned corners of mouth, Abnormal soft ... ORPHA:884
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Scoliosis, Bulbous nose, Wide nasal bridge, Cleft upper lip, Cleft palate, Bifid uvula, Anteverte... OMIM:300958
Severe Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Gastrointestinal inflammation, Malnutrition, Erosion of oral mucosa, Constipat... ORPHA:79404
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
Cryptorchidism, Camptodactyly of finger, Decreased testicular size, Clinodactyly, Tapered finger,... ORPHA:85279
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation, Abnormality of the mouth, Intestinal bleeding OMIM:600195
Inflammatory Pseudotumor Of The Liver
Abdominal pain, Nausea, Vomiting, Diabetes mellitus, Abdominal distention ORPHA:90003
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Platyspondyly, Mandibular prognathia, Herniation of interve... OMIM:601216
Osteolysis Syndrome, Recessive
Osteolytic defects of the distal phalanges of the hand, Osteolytic defects of the middle phalange... OMIM:259610
Distal Xq28 Microduplication Syndrome
Open mouth, Recurrent upper respiratory tract infections, Dental crowding, Hypothyroidism, Patent... ORPHA:293939
Bangstad Syndrome
Goiter, Insulin-resistant diabetes mellitus, Pancytopenia, Retrognathia, Primary gonadal insuffic... OMIM:210740
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Macroglossia, Goiter, Hypothyroidism, Constipation, Elevated circulating thyroi... OMIM:218700
Cap Polyposis
Abdominal pain, Hematochezia, Constipation, Chronic atrophic gastritis, Colorectal polyposis, Dia... ORPHA:160148
Fibrochondrogenesis 2
Platyspondyly, Short nose, Protuberant abdomen, Hypoplastic ilia, Metaphyseal cupping, Hypoplasti... OMIM:614524
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Secondary Short Bowel Syndrome
Malnutrition, Small intestinal dysmotility, Villous atrophy, Central hypothyroidism, Aganglionic ... ORPHA:95427
Larynx Atresia
Recurrent respiratory infections, Laryngomalacia ORPHA:1202
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Short distal phalanx of finger, Clin... OMIM:614261
Pendred Syndrome
Goiter, Hypothyroidism, Thyroid carcinoma, Tracheal stenosis, Hyperparathyroidism ORPHA:705
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Delayed eruption of teeth, Carious teeth, Enlargement of the ankles, Bulging e... OMIM:277440
Mullegama-Klein-Martinez Syndrome
Scoliosis, Long philtrum, Short philtrum, Bulbous nose, Polydactyly, Smooth philtrum, Wide nasal ... OMIM:301022
Moebius Syndrome
Arthrogryposis multiplex congenita, Short phalanx of finger, Split hand, Camptodactyly, Congenita... OMIM:157900
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Short metatarsal, Short phalanx of finger, Protuberant abdomen, Postaxial polydact... OMIM:617102
Ptosis-Vocal Cord Paralysis Syndrome
Laryngomalacia ORPHA:2997
Opitz Gbbb Syndrome
Cryptorchidism, Craniosynostosis, Natal tooth, Patent ductus arteriosus, Congenital diaphragmatic... ORPHA:2745
Larynx, Congenital Partial Atresia Of
Laryngeal web, Laryngeal obstruction OMIM:150300
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Short neck, Limb muscle weakness, Atlantoaxial instability, Genu valgum, L... ORPHA:239
Buratti-Harel Syndrome
Cryptorchidism, Atrial septal defect, Broad thumb, Gastroesophageal reflux, Laryngomalacia, Broad... OMIM:619314
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Intestinal malrotati... ORPHA:1505
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Cryptorchidism, Wormian bones, Absent glenoid fossa, Epiphyseal stippling, Narrow mout... ORPHA:96334
Al Amyloidosis
Monoclonal light chain cardiac amyloidosis, Postural hypotension with compensatory tachycardia, X... ORPHA:85443
Multiple Endocrine Neoplasia, Type Iib
Parathyroid hyperplasia, Scoliosis, Hyperlordosis, Elevated calcitonin, Ganglioneuroma, Pheochrom... OMIM:162300
Cenani-Lenz Syndrome
Scoliosis, Abnormal dental enamel morphology, Elbow dislocation, Abnormality of the metacarpal bo... ORPHA:3258
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia, Aortic valve stenosis OMIM:261560
Geleophysic Dysplasia 3
Long philtrum, Bulbous nose, Subglottic stenosis, Pneumonia, Thick vermilion border, Wide nasal b... OMIM:617809
Geleophysic Dysplasia 2
Long philtrum, Short nose, Ovoid vertebral bodies, Cone-shaped epiphysis, Smooth philtrum, Thin u... OMIM:614185
Congenital Muscular Dystrophy With Intellectual Disability
Scoliosis, Cryptorchidism, Feeding difficulties, Skeletal muscle hypertrophy, Hypoglycosylation o... ORPHA:370968
Diamond-Blackfan Anemia 6
Triphalangeal thumb, Ventricular hypertrophy, Atrial septal defect, Persistence of hemoglobin F, ... OMIM:612561
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Delayed eruption of teeth, Enlargement of the ankles, Bulging epiphyses, Delay... OMIM:264700
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Hyper... OMIM:615382
Charge Syndrome
Scoliosis, Cryptorchidism, Abnormality of tibia morphology, Narrow mouth, Choanal atresia, Patent... ORPHA:138
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Prominence of the premaxilla, Narrow mouth, Congenital hip dislocation, ... ORPHA:2412
Marshall-Smith Syndrome
Scoliosis, Prominence of the premaxilla, Choanal atresia, Patent ductus arteriosus, Short distal ... OMIM:602535
Teebi-Shaltout Syndrome
Rocker bottom foot, Oligodontia, Narrow mouth, Underdeveloped nasal alae, Ventricular septal defe... OMIM:272950
Achondrogenesis, Type Ib
Stillbirth, Hypoplastic ilia, Umbilical hernia, Absent or minimally ossified vertebral bodies, Ma... OMIM:600972
Distal Limb Deficiencies-Micrognathia Syndrome
Oligodactyly, Cryptorchidism, Tarsal synostosis, Narrow mouth, Abnormality of the ulna, Microretr... ORPHA:1307
Dysostosis, Stanescu Type
Scoliosis, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Massively thickened l... ORPHA:1798
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Hypoplasia of the radius, Type I truncus arteriosus, Secundum atrial septal defec... OMIM:156810
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Long philtrum, Short neck, Bulbous nose, Underdeveloped nasal alae, Low posterior hairline, Webbe... OMIM:616549
8P23.1 Microdeletion Syndrome
Cryptorchidism, Thin vermilion border, Broad thumb, Broad hallux phalanx, Patent ductus arteriosu... ORPHA:251071
Chromosome 2P16.1-P15 Deletion Syndrome
Cryptorchidism, Camptodactyly, Metatarsus adductus, High palate, High, narrow palate, Decreased t... OMIM:612513
Burn-Mckeown Syndrome
Thin vermilion border, Atrial septal defect, Short philtrum, Narrow mouth, Underdeveloped nasal a... OMIM:608572
Proteus Syndrome
Open mouth, Venous malformation, Kyphoscoliosis, Mandibular hyperostosis, Spinal canal stenosis, ... OMIM:176920
Branchiootorenal Syndrome 1
Congenital hip dislocation, Branchial cyst, Branchial fistula, Intestinal malrotation, Facial pal... OMIM:113650
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Nausea and vomiting, Abdominal pain, Anemia, Ileus, Mediastinal lymphadenopathy... ORPHA:83469
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Craniosynostosis, Short nose, Narrow mouth, Laryngeal hypoplasia, Optic dis... ORPHA:1790
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Intracranial hemorrhage, Emphysema, Aortic a... ORPHA:363618
Primary Peritoneal Carcinoma
Nausea and vomiting, Constipation, Abdominal distention, Abdominal pain ORPHA:168829
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Pneumoni... ORPHA:97287
Congenital Laryngomalacia
Cleft palate, Non-midline cleft lip, Laryngomalacia ORPHA:2373
Aarskog-Scott Syndrome
Scoliosis, Cryptorchidism, Delayed puberty, Cervical spine hypermobility, Broad philtrum, Short n... OMIM:305400
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Macroglossia, Ventricular septal defect, Patent ductus arteriosus, Umbilical hern... OMIM:612938
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Gastroesophageal reflux, Feeding difficulties in inf... ORPHA:2924
Rhabdomyosarcoma, Embryonal, 2
Goiter, Multinodular goiter, Pleuropulmonary blastoma, Ovarian thecoma, Thyroid nodule, Embryonal... OMIM:180295
Zimmermann-Laband Syndrome 3
Triphalangeal thumb, Absent distal phalanx of the 2nd toe, Kyphosis, Flexion contracture, Patent ... OMIM:618658
Microphthalmia With Limb Anomalies
Cryptorchidism, Hypoplasia of the premaxilla, Thin vermilion border, Tarsal synostosis, Broad thu... ORPHA:1106
8P23.1 Duplication Syndrome
Long philtrum, Toe syndactyly, Ventricular septal defect, Thick vermilion border, Adrenal insuffi... ORPHA:251076
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Brachydactyly, Osteoarthritis ORPHA:2762
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed closure of the anterior fontanelle, Bulbous nose, Metatarsal osteolysis, Split hand, Inte... OMIM:259600
Liver Failure, Infantile, Transient
Vomiting, Feeding difficulties in infancy, Acute hepatic failure, Abdominal distention OMIM:613070
Gaucher Disease, Type Ii
Feeding difficulties, Protuberant abdomen, Dysphagia, Trismus, Thrombocytopenia, Anemia, Splenome... OMIM:230900
Ulnar-Mammary Syndrome
Anterior pituitary hypoplasia, Short 4th toe, Delayed puberty, Absent radius, Short clavicles, Sh... OMIM:181450
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal form of the vertebral bodies, Abnormal sacrum morphology, Abnormal palate morphology, Ch... ORPHA:93262
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion, Abdominal distention, Abdominal pain ORPHA:48686
Nablus Mask-Like Facial Syndrome
Cryptorchidism, Long philtrum, Craniosynostosis, Short nose, Narrow mouth, Hypoplasia of the maxi... OMIM:608156
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect, Foot oligodactyly, Tricuspid regurgitation, Esopha... OMIM:616589
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Short philtrum, Atrial septal defect, Broad thumb, Open mouth, Ventricular septal defect, Microgn... OMIM:309520
Cerebellofaciodental Syndrome
Scoliosis, Taurodontia, Macrodontia of permanent maxillary central incisor, Laryngomalacia, Laryn... OMIM:616202
Fg Syndrome Type 1
Cryptorchidism, Craniosynostosis, Open mouth, Dental crowding, Choanal atresia, Pulmonary arteria... ORPHA:93932
Laryngeal Abductor Paralysis
Laryngomalacia ORPHA:2808
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Cryptorchidism, Juvenile myelomonocytic leukemia, Long philtrum, Cubitus valgus, Webbed neck, Dee... OMIM:613563
Atrial Fibrillation, Familial, 13
Left atrial enlargement, Aortic valve stenosis, Paroxysmal atrial fibrillation OMIM:615377
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Micrognathia, Short nec... ORPHA:1427
Ovarian Fibroma
Abnormality of the ovary, Odontogenic keratocysts of the jaw, Abdominal pain, Ovarian fibroma, Ab... ORPHA:314473
Short-Rib Thoracic Dysplasia 12
Natal tooth, Patent ductus arteriosus, Intestinal malrotation, Hamartoma of tongue, Bowing of the... OMIM:269860
Oculopharyngodistal Myopathy
Abnormality of facial musculature, Abnormality of masseter muscle, Difficulty in tongue movements... ORPHA:98897
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Broad thumb, Patent ductus arteriosus, Neutropenia, Cor triatriatum, Anemia, Leuk... OMIM:612541
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Epiphyseal stippling, Goiter OMIM:274300
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Scoliosis, Cryptorchidism, Downturned corners of mouth, Intestinal malrotation, Postaxial polydac... ORPHA:404440
Hypercalcemia, Infantile, 1
Vomiting, Pulmonic stenosis, Aortic valve stenosis, Thick lower lip vermilion OMIM:143880
Choanal Atresia
Craniosynostosis, Feeding difficulties, Polydactyly, Tracheomalacia, Laryngomalacia, Chronic sinu... ORPHA:137914
Cerebellar-Facial-Dental Syndrome
Scoliosis, Cryptorchidism, Laryngeal stridor, Abnormal T-wave, Alveolar ridge overgrowth, Mitral ... ORPHA:444072
Microcephalic Primordial Dwarfism, Dauber Type
Hip dysplasia, Bilateral breast hypoplasia, Lumbar scoliosis, Madelung deformity, Prominent nose,... ORPHA:319675
Dysostosis Multiplex, Ain-Naz Type
Scoliosis, Hypoplastic iliac wing, Hemivertebrae, Flat acetabular roof, Glenoid fossa hypoplasia,... OMIM:619345
Orofaciodigital Syndrome Type 2
Y-shaped metacarpals, Hypoplasia of teeth, Tongue nodules, Broad first metatarsal, Natal tooth, H... ORPHA:2751
Agnathia-Otocephaly Complex
Mandibular aplasia, Situs inversus totalis, Narrow mouth, Aglossia, Laryngeal hypoplasia, Tracheo... OMIM:202650
Heart Defects, Congenital, And Other Congenital Anomalies
Patent ductus arteriosus, Intestinal malrotation, Pancreatic hypoplasia, Microcolon, Pulmonary ar... OMIM:600001
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Scoliosis, Cryptorchidism, Maturity-onset diabetes of the young, Short philtrum, Narrow mouth, Fe... ORPHA:96184
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Cleft palate, Bifid uvula, Retrognathia, Micrognathia, Submucous cleft har... ORPHA:2521
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Cryptorchidism, Hypoplastic sacrum, Bifid distal phalanx of toe, Broad thumb, Dental c... OMIM:268310
Granulomatosis With Polyangiitis
Pleuritis, Oral ulcer, Subglottic stenosis, Elevated bronchoalveolar lavage fluid neutrophil prop... OMIM:608710
Mohr Syndrome
Scoliosis, Wormian bones, Metaphyseal irregularity, Tongue nodules, Short palm, Lobulated tongue,... OMIM:252100
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Neutropenia, Eosinophilia OMIM:257100
Congenital Heart Defects And Skeletal Malformations Syndrome
Scoliosis, Cryptorchidism, Carious teeth, Atrial septal defect, Short nose, Ventricular septal de... OMIM:617602
Osteopathia Striata With Cranial Sclerosis
Scoliosis, Delayed closure of the anterior fontanelle, Dental crowding, Camptodactyly, Natal toot... OMIM:300373
Medullary Thyroid Carcinoma
Elevated calcitonin, Pheochromocytoma, Dysphagia, Diarrhea, Primary hyperparathyroidism, Neoplasm... ORPHA:1332
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds OMIM:606824
Xanthoma Disseminatum
Abnormal bronchus morphology, Abnormality of the larynx, Abnormal lip morphology, Diabetes insipi... ORPHA:158003
2P15P16.1 Microdeletion Syndrome
Scoliosis, Narrow mouth, Sandal gap, Metatarsus adductus, Toe clinodactyly, High palate, Decrease... ORPHA:261349
Blomstrand Lethal Chondrodysplasia
Long philtrum, Platyspondyly, Short nose, Synostosis of joints, Protuberant abdomen, Abnormality ... ORPHA:50945
Okamoto Syndrome
Open bite, Scoliosis, Underdeveloped nasal alae, Open mouth, Downturned corners of mouth, Polydac... ORPHA:2729
8Q22.1 Microdeletion Syndrome
Cryptorchidism, Long philtrum, Camptodactyly of finger, Craniosynostosis, Finger syndactyly, Abno... ORPHA:178303
3P25.3 Microdeletion Syndrome
Scoliosis, Broad thumb, Downturned corners of mouth, Mandibular prognathia, Patent ductus arterio... ORPHA:435638
Rapp-Hodgkin Syndrome
Decreased number of sweat glands, Narrow mouth, Underdeveloped nasal alae, Hypoplasia of the maxi... OMIM:129400
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Cleft palate OMIM:258320
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Long philtrum, Short nose, Dental crowding, Pierre-Robin sequence, Paroxysmal supraventricular ta... OMIM:617877
Robinow Syndrome
Scoliosis, Cryptorchidism, Dental crowding, Hemivertebrae, Oral cleft, Short distal phalanx of fi... ORPHA:97360
Lumbosacral meningocele, Short neck, Short nose, Protuberant abdomen, Webbed neck, Narrow pelvis ... OMIM:608022
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Dental crowding, Everted lower lip vermilion, Trismus, Wide na... OMIM:616367
Blepharochalasis And Double Lip
Abnormality of the mouth, Goiter, Duplication of the upper lip OMIM:109900
Pallister-Killian Syndrome
Cryptorchidism, Congenital hip dislocation, Short phalanx of finger, Patent ductus arteriosus, In... OMIM:601803
Cerebrofacioarticular Syndrome
Narrow mouth, Abnormal heart morphology, Anal stenosis, Camptodactyly, Gastrostomy tube feeding i... ORPHA:314679
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Pulmonary insufficiency, Patent ductus arteriosus, Intestina... OMIM:265380
Liang-Wang Syndrome
Macroglossia, Downturned corners of mouth, Everted lower lip vermilion, Diastema, Wide mouth, Mac... OMIM:618729
Fraser-Like Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Ovarian cyst, Overlapping to... OMIM:229230
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Scoliosis, Cryptorchidism, Hydrocele testis, Open mouth, Dental crowding, Mandibular prognathia, ... ORPHA:261537
Koolen-De Vries Syndrome
Pear-shaped nose, Cryptorchidism, Scoliosis, Narrow palate, Bulbous nose, Open mouth, Patent duct... OMIM:610443
Cirrhosis, Familial
Abdominal distention, Esophageal varix OMIM:215600
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Bulbous nose, Smooth philtrum, Thin upper lip vermilion, Widely-spaced incisors, Optic atrophy, H... OMIM:618737
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Goiter, Thyroid carcinoma OMIM:274700
Bangstad Syndrome
Increased circulating cortisol level, Hyperinsulinemia, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Postaxial polydactyly, Double outlet ... OMIM:217095
Abnormality of the ovary, Abdominal pain, Dysgerminoma, Ovarian gonadoblastoma, Abdominal distent... ORPHA:206484
Stüve-Wiedemann Syndrome
Scoliosis, Camptodactyly of finger, Genu valgum, Metaphyseal widening, Flexion contracture of fin... ORPHA:3206
Chops Syndrome
Cryptorchidism, Short nose, Downturned corners of mouth, Gastroesophageal reflux, Patent ductus a... OMIM:616368
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Genu valgum, Hyperlordosis, Platyspondyly, Delayed pubic bone ossification, Club-shape... OMIM:184250
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Cubitus valgus, Abnormal heart morphology, Camptodactyly, Stippled chondral calci... OMIM:214110
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Short nose, Narrow mouth, Ulnar deviation of the wrist, Depressed nasal ... ORPHA:1529
Pediatric-Onset Graves Disease
Palpitations, Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goit... ORPHA:525731
Weill-Marchesani Syndrome
Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Short thumb, Mitral regurgit... ORPHA:3449
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Spina bifida, Preaxial hand polydactyly,... ORPHA:1120
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormality of the spleen, Abnormal lower motor neuron mor... ORPHA:93941
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Optic atrophy, Cleft palate OMIM:618768
Scoliosis, Long philtrum, Protuberant abdomen, 2-3 toe syndactyly, Smooth philtrum, Wide nasal br... OMIM:269921
Mosaic Variegated Aneuploidy Syndrome 2
Subvalvular aortic stenosis, Atrial septal defect, Craniosynostosis, Bulbous nose, Short nose, Ve... OMIM:614114
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma OMIM:188550
Shprintzen-Goldberg Craniosynostosis Syndrome
Scoliosis, Cryptorchidism, Craniosynostosis, Narrow palate, Camptodactyly, Metatarsus adductus, H... OMIM:182212
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth, Short metatarsal, Pseudohypoparathyroidism, Hypothy... OMIM:612462
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus, Abnormal lung lobation ORPHA:1705
Subaortic Stenosis--Short Stature Syndrome
Short toe, Short nose, Narrow mouth, Membranous subvalvular aortic stenosis, Hypoplasia of the ma... OMIM:271960
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth, Short metatarsal, Pseudohypoparathyroidism, Hypothy... OMIM:103580
Renal-Hepatic-Pancreatic Dysplasia 1
Atrial septal defect, Pancreatic cysts, Polysplenia, Patent ductus arteriosus, Intestinal malrota... OMIM:208540
Fryns Syndrome
Cryptorchidism, Intestinal malrotation, Short distal phalanx of finger, Congenital diaphragmatic ... ORPHA:2059
Kaufman Oculocerebrofacial Syndrome
Carious teeth, Narrow mouth, Congenital hip dislocation, Ovoid vertebral bodies, Intestinal malro... OMIM:244450
Achondrogenesis, Type Ii
Cystic hygroma, Stillbirth, Broad long bones, Absent vertebral body mineralization, Hypoplastic i... OMIM:200610
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cryptorchidism, Clubbing of fingers, Atrial septal defect, 2-3 toe syndactyly, Patent ductus arte... ORPHA:3304
Singleton-Merten Syndrome 2
Aortic valve stenosis OMIM:616298
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Protuberant abdomen, Death in infancy, Acute hepa... OMIM:278000
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Mccune-Albright Syndrome
Scoliosis, Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Incr... ORPHA:562
Mowat-Wilson Syndrome
Scoliosis, Cryptorchidism, Hydrocele testis, Open mouth, Dental crowding, Camptodactyly, Mandibul... ORPHA:2152
Kniest-Like Dysplasia, Lethal
Platyspondyly, Atrial septal defect, Arrhythmia, Narrow mouth, Coronal cleft vertebrae, Metaphyse... OMIM:245190
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Autosomal Recessive Robinow Syndrome
Open bite, Cryptorchidism, Scoliosis, Broad thumb, Downturned corners of mouth, Elbow dislocation... ORPHA:1507
Braddock Syndrome
Scoliosis, Preaxial hand polydactyly, Short neck, Pulmonary fibrosis, Congenital muscular tortico... ORPHA:52047
9Q31.1Q31.3 Microdeletion Syndrome
Broad nasal tip, Aortic regurgitation, Renovascular hypertension, Mandibular prognathia, Small ha... ORPHA:401923
Larsen Syndrome
Scoliosis, Cryptorchidism, Short metatarsal, Elbow dislocation, Spina bifida occulta, Bronchomala... OMIM:150250
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Scoliosis, Cryptorchidism, Hydrocele testis, Open mouth, Dental crowding, Mandibular prognathia, ... ORPHA:261552
Schwartz-Jampel Syndrome
Pursed lips, Wormian bones, Scoliosis, Arthrogryposis multiplex congenita, Narrow mouth, Elbow di... ORPHA:800
Arthrogryposis, Distal, Type 3
Cryptorchidism, Arthrogryposis multiplex congenita, Congenital hip dislocation, Short phalanx of ... OMIM:114300
Bronchiolitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Pneumonia, Anore... ORPHA:2552
Lethal Kniest-Like Dysplasia
Platyspondyly, Abnormal cartilage matrix, Atrial septal defect, Coronal cleft vertebrae, Abnormal... ORPHA:2347
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Hamartoma of tongue, Postaxial polydactyly, Narrow greater sciatic notch, Absent gal... OMIM:617925
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Thyroid Lymphoma
Goiter, Hypothyroidism, Dysphagia, Hashimoto thyroiditis, Broad neck, Hyperthyroidism, Lymphadeno... ORPHA:97285
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Impaired sensitivity to thyroid hormone, Goiter, Increased circulating free T3 OMIM:188570
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Aortic ... OMIM:267010
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cryptorchidism, Facial hypotonia, Mandibular prognathia, High palate, Lower limb hypertonia, Dias... OMIM:300534
Thyrocerebrorenal Syndrome
Thrombocytopenia, Abnormality of the musculature of the limbs, Euthyroid goiter ORPHA:3327
Apert Syndrome
Delayed eruption of teeth, Narrow palate, Ovarian neoplasm, Broad thumb, Toe syndactyly, Hypoplas... ORPHA:87
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Postaxial hand polydactyly, Preaxial foot polydactyly, Multinodular goiter ORPHA:2091
Autosomal Recessive Centronuclear Myopathy
Hyperlordosis, Scapular winging, Narrow mouth, Abnormal heart valve morphology, Centrally nucleat... ORPHA:169186
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly, Patent ductus arteriosus, Histiocytosis, Left superior vena cava draining to coron... OMIM:602782
Mental Retardation, Autosomal Dominant 21
Cryptorchidism, Thin vermilion border, Atrial septal defect, Long philtrum, Narrow mouth, Feeding... OMIM:615502
Fanconi Anemia
Scoliosis, Cryptorchidism, Abnormal carotid artery morphology, Choanal atresia, Patent ductus art... ORPHA:84
Opitz Gbbb Syndrome, Type Ii
Cryptorchidism, Craniosynostosis, Patent ductus arteriosus, Pulmonary arterial hypertension, High... OMIM:145410
22Q11.2 Duplication Syndrome
Scoliosis, Interrupted aortic arch, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, ... ORPHA:1727
Hematochezia, Ulcerative colitis, Abdominal distention, Enterocolitis OMIM:226150
Shprintzen-Goldberg Syndrome
Scoliosis, Cryptorchidism, Craniosynostosis, Elbow dislocation, Abnormality of the metaphysis, Mi... ORPHA:2462
Thyrocerebroretinal Syndrome
Thrombocytopenia, Goiter, Skeletal muscle atrophy OMIM:274240
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Postaxial hand polydactyly, Preaxial foot polydactyly, Bilateral triphalangeal thumbs, Multinodul... OMIM:138790
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly, Anemia OMIM:273680
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating T4 level, Pituitary hypothyroidism, Decreased circulating free T3, Increase... ORPHA:99832
Amish Lethal Microcephaly
Feeding difficulties, Death in infancy, Optic atrophy, Cleft soft palate, Micrognathia ORPHA:99742
Adams-Oliver Syndrome 1
Atrial septal defect, Toe syndactyly, Ventricular septal defect, Pulmonary arterial hypertension,... OMIM:100300
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth, Cortical subperiosteal resorption of humeral metaph... ORPHA:94089
Hypothyroidism, Constipation, Goiter, Elevated circulating thyroid-stimulating hormone concentration OMIM:255900
Cri-Du-Chat Syndrome
Scoliosis, Cryptorchidism, Short philtrum, Diastasis recti, Short neck, Short metatarsal, Downtur... OMIM:123450
Saethre-Chotzen Syndrome
Open bite, Cryptorchidism, Scoliosis, Craniosynostosis, Narrow palate, Broad thumb, Triphalangeal... ORPHA:794
Alstrom Syndrome
Scoliosis, Hyperinsulinemia, Multinodular goiter, Hypergonadotropic hypogonadism, Hypothyroidism,... OMIM:203800
Nasodigitoacoustic syndrome
Broad distal phalanx of finger, Short 3rd metacarpal, Narrow palate, Short phalanx of finger, Bro... OMIM:255980
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Scoliosis, Craniosynostosis, Patent ductus arteriosus, Hemivertebrae, High palate, Short neck, Lo... OMIM:213980
Developmental Delay With Or Without Dysmorphic Facies And Autism
Scoliosis, Cryptorchidism, Bulbous nose, Laryngotracheomalacia, Patent ductus arteriosus, Congeni... OMIM:618454
Hamamy Syndrome
Cryptorchidism, Craniosynostosis, Long toe, High palate, Low posterior hairline, Micrognathia, Sh... OMIM:611174
Van Maldergem Syndrome 2
Scoliosis, Cryptorchidism, Short 4th metacarpal, Downturned corners of mouth, Feeding difficultie... OMIM:615546
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Genu valgum, Delayed pubic bone ossification, Metaphyseal irregularity, Enlarged epiphyses, Protu... OMIM:613330
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Short philtrum, Abnormal heart morphology, Anal stenosis, Mandibular prognathia, ... OMIM:601499
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Rocker bottom foot, Thin vermilion border, Arthrogryposis multiplex congenita, Short neck, Bulbou... OMIM:618622
Myhre Syndrome
Cryptorchidism, Thin vermilion border, Large iliac wing, Narrow mouth, Mandibular prognathia, Gin... ORPHA:2588
Autosomal Dominant Progressive External Ophthalmoplegia
Ventricular arrhythmia, EMG: myopathic abnormalities, Hypomimic face, Shoulder girdle muscle weak... ORPHA:254892
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Craniosynostosis, Prominent nasal bridge, Hypoplasia of the maxilla OMIM:608432
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Craniosynostosis, Underdeveloped nasal alae, Dental crowding, High palat... OMIM:600920
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Short distal phalanx of finger, Abnormality of the dentition, Broad na... ORPHA:2776
Weill-Marchesani Syndrome 3
Pulmonic stenosis, Aortic valve stenosis, Brachydactyly OMIM:614819
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Goiter, Thyroid defect in oxidation and organification of iodide OMIM:274500
Zttk Syndrome
Scoliosis, Thin vermilion border, Craniosynostosis, Narrow mouth, Downturned corners of mouth, Pa... OMIM:617140
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Scoliosis, Postaxial polysyndactyly of foot, Abnormality of the philtrum, High... ORPHA:2919
X-Linked Acrogigantism
Increased serum insulin-like growth factor 1, Abnormality of the pituitary gland, Elevated circul... ORPHA:300373
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Atrial septal defect, Bicuspid aortic valve OMIM:618496
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cryptorchidism, Bulbous nose, Ventricular septal defect, Mandibular prognathia, Wide mouth, Submu... OMIM:619103
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Congenital hypothyroidism, Elevated circulating thyroid-stimulating hormone conce... OMIM:275200
Costello Syndrome
Thickened nuchal skin fold, Cryptorchidism, Abnormal dental enamel morphology, Macroglossia, Narr... ORPHA:3071
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Peroneal muscle atrophy, Congenital foot contraction deformities, Axonal loss, Abnormality of the... OMIM:118230
Trisomy 8P
Cryptorchidism, Thin vermilion border, Short fifth metatarsal, Malrotation of small bowel, Periph... ORPHA:264450
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Primary hypothyroidism OMIM:225040
Hurler-Scheie Syndrome
Scoliosis, Aortic regurgitation, Kyphosis, Thick vermilion border, Umbilical hernia, Splenomegaly... OMIM:607015
Cryptorchidism, Postaxial hand polydactyly, Tracheal atresia, Laryngomalacia, Gingival cleft, Uni... ORPHA:2189
2Q37 Microdeletion Syndrome
Thin vermilion border, Underdeveloped nasal alae, Downturned corners of mouth, Congenital diaphra... ORPHA:1001
Meier-Gorlin Syndrome 4
Cryptorchidism, Narrow mouth, Thick lower lip vermilion, Breast hypoplasia, Genu recurvatum, Feed... OMIM:613804
Visceral Myopathy, Familial, With External Ophthalmoplegia
Malnutrition, Spontaneous esophageal perforation, Abdominal pain, Gastroparesis, Abdominal disten... OMIM:277320
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Abdominal distention, Hypertrophic cardiomyopathy ORPHA:369
Keipert Syndrome
Short hallux, Broad distal phalanx of finger, Broad thumb, Broad hallux phalanx, Tented upper lip... ORPHA:2662
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
15Q14 Microdeletion Syndrome
Scoliosis, Long philtrum, Short philtrum, Atrial septal defect, Ventricular septal defect, Kyphos... ORPHA:261190
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cryptorchidism, Arthrogryposis multiplex congenita, Craniosynostosis, Abnormal left ventricular f... OMIM:301056
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased circulat... ORPHA:652
Thyroid Cancer, Nonmedullary, 4
Non-medullary thyroid carcinoma, Goiter OMIM:616534
Branchial cyst, Optic disc coloboma, Secundum atrial septal defect, Hypertension, Pulmonary venou... ORPHA:2260
Idiopathic Hypereosinophilic Syndrome
Joint swelling, Intracranial hemorrhage, Vasculitis in the skin, Generalized lymphadenopathy, Pul... ORPHA:3260
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect, Preaxial hand polydactyly, Short nose, Feeding difficulties, Cleft palate, ... ORPHA:79113
Stickler Syndrome, Type Ii