banner
Genes Phenotypes Help, News, Blog

Gene: Rdh10 MGI:1924238

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:
retinol dehydrogenase 10 (all-trans)
Synonyms:
4921506A21Rik,  m366Asp,  3110069K09Rik,  D1Ertd762e

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 Rdh10 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 Rdh10 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Branchiootic Syndrome 1
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... OMIM:602588
Dextrocardia
Abnormal EKG, Congenital hip dislocation, Dextrocardia, Intestinal malrotation, Situs inversus to... ORPHA:1666
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... OMIM:609166
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Renal agenesis, Optic nerve hypoplasia, Short neck, Sh... OMIM:615583
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Renal agenesis, Abnormal lung morphology, Cleft palate, Upper limb phocomelia, Abnorm... ORPHA:294975
Branchiootic Syndrome 3
Branchial cyst, Sensorineural hearing impairment OMIM:608389
Mosaic Trisomy 9
Hypoplasia of penis, Micromelia, Short neck, Asplenia, Abnormal lung lobation, Finger clinodactyl... ORPHA:99776
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocatio... OMIM:607323
Bardet-Biedl Syndrome 19
Cone/cone-rod dystrophy, Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydacty... OMIM:615996
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... ORPHA:50815
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Short femur, Ventricular septal defect, Facial cleft, Anterior encephaloc... OMIM:601357
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Corneal arcus, Joint contrac... OMIM:602782
Adams-Oliver Syndrome 6
Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly... OMIM:616589
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Renal agenesis, Short neck, Renal hypoplasia/aplasia, High, narrow pal... ORPHA:2516
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Conductive hearing impairment, Sensorineural hearing impairmen... ORPHA:1131
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Anophthalmia, Abnormality of the spleen, Abnormal finger morphol... ORPHA:2538
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Impulsivity, Aggressive behavior, Abnormal repetitive mannerisms, Lens coloboma, Cupp... OMIM:618914
Emanuel Syndrome
Congenital hip dislocation, High palate, Gastroesophageal reflux, Atrial septal defect, Micropeni... OMIM:609029
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Redundant neck skin, Single transverse palmar crease, Short neck, 2-3 toe syndactyly, Renal cyst,... OMIM:236500
Fanconi Anemia, Complementation Group B
Optic disc hypoplasia, Hypergonadotropic hypogonadism, Absent thumb, Short neck, Esophageal atres... OMIM:300514
Microcephaly-Micromelia Syndrome
Wide nose, Micromelia, Short neck, Absent thumb, Absent radius, Micrognathia, Humeroradial synost... OMIM:251230
14Q24.1Q24.3 Microdeletion Syndrome
Limited elbow extension and supination, Brachydactyly, Ventricular septal defect, Intestinal malr... ORPHA:401935
Acromelic Frontonasal Dysostosis
Encephalocele, Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Broad... OMIM:603671
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Posteriorly rotated ears, Broad proximal phalanges of the hand, Choanal atresia, Optic nerve hypo... OMIM:607597
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Sensorineural h... OMIM:610199
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Tics, Compulsive behaviors, Short palm, Clinodactyly of the 5th finger, Atri... ORPHA:261330
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Unilateral renal agenesis, Cleft palate, Webbed neck, Hydranencephaly,... OMIM:601355
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of... OMIM:274000
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Anophthalmia, Spina bifida, Aplasia/Hypoplasia of the earlobes... ORPHA:1104
Nail-Patella Syndrome
Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Iliac horns, Clinodac... OMIM:161200
Bresek Syndrome
Renal dysplasia, Hypoplasia of the bladder, Decreased testicular size, Aganglionic megacolon, Opt... ORPHA:85284
Cat Eye Syndrome
Micrognathia, Biliary atresia, Chorioretinal coloboma, Vesicoureteral reflux, Iris coloboma, Pate... OMIM:115470
Gombo Syndrome
Abnormal heart morphology, Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodact... OMIM:233270
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Central heterochromia, Optic disc hypoplasia, Short neck, Microg... ORPHA:233
Fryns Microphthalmia Syndrome
Anophthalmia, Facial cleft, Bilateral cleft lip and palate, Neural tube defect, Microphthalmia, M... OMIM:600776
Diamond-Blackfan Anemia 9
Low levels of vitamin D, Webbed neck OMIM:613308
Branchiootic Syndrome
Branchial fistula, Sensorineural hearing impairment, Atresia of the external auditory canal, Cond... ORPHA:52429
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Short neck, Coloboma, Abnormal optic disc morphology, Short palm, Clinodac... ORPHA:508498
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Patent forame... OMIM:600001
Coloboma Of Macula-Brachydactyly Type B Syndrome
Type B brachydactyly, Renal agenesis, Camptodactyly of finger, Short stature, Chorioretinal colob... ORPHA:1471
Frontofacionasal Dysplasia
Encephalocele, Cataract, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Limbal dermoid... ORPHA:1791
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Cryptorchidism, Genu ... ORPHA:1381
Hypertelorism, Microtia, Facial Clefting Syndrome
Ectopic kidney, 2-3 toe syndactyly, Cleft palate, Abnormal heart morphology, Facial cleft, Small ... OMIM:239800
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Emanuel Syndrome
Redundant neck skin, Congenital hip dislocation, High palate, Gastroesophageal reflux, Atrial sep... ORPHA:96170
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Short neck, Abnormality of the spleen, Depressed nasal ridge, ... ORPHA:2162
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Hypospadias, Renal agenesis, Cryptorchidism, Patent duc... ORPHA:171839
Bartsocas-Papas Syndrome 1
Short neck, Bilateral cryptorchidism, Micrognathia, Ectopic kidney, Hypoplastic iliac wing, Ptery... OMIM:263650
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Anteriorly placed anus, Gastroesophageal reflux, Prominent fingertip pads, A... OMIM:618494
Orofaciodigital Syndrome Xvii
Short stature, Short neck, Short middle phalanx of the 2nd finger, High, narrow palate, Partial d... OMIM:617926
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Micrognathia, Glossoptosis, High palate, Hypoplasia of the th... ORPHA:861
Short-Rib Thoracic Dysplasia 12
Short neck, Bowing of the legs, Lobulated tongue, Holoprosencephaly, Short palm, Neonatal death, ... OMIM:269860
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Hypospadias, Intestinal ma... OMIM:601346
Microphthalmia, Syndromic 9
Anophthalmia, Agenesis of pulmonary vessels, Pulmonary artery atresia, Neonatal death, Atrial sep... OMIM:601186
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Finger syndactyly, Tapered finger, Sensorineural hearing impairment, Protruding e... ORPHA:435938
Acrofacial Dysostosis, Catania Type
Low-set, posteriorly rotated ears, Finger syndactyly, Brachydactyly, Hypospadias, Short stature, ... ORPHA:1786
Charge Syndrome
Anophthalmia, Abnormal palmar dermatoglyphics, External genital hypoplasia, Micrognathia, Decreas... OMIM:214800
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hyperactivity, Ventricular septal defect, Hypospadias, Absent thumb, Short ... OMIM:617516
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Ectopic kidney, Abnorm... OMIM:146510
Bor Syndrome
Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ... ORPHA:107
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Hepatic cysts, Malformation of the hepatic ductal plate, Situs ... OMIM:615415
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Atrial septal defec... ORPHA:2255
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol... OMIM:615710
Holoprosencephaly 7
Alobar holoprosencephaly, Hypoplastic nasal septum, Holoprosencephaly, Median cleft palate, Iris ... OMIM:610828
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia, Cleft palate, Hand polydactyly, Hypoplastic left heart OMIM:236110
Joubert Syndrome 22
Postaxial hand polydactyly, 2-3 toe syndactyly, Renal hypoplasia, Postaxial foot polydactyly, Col... OMIM:615665
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Mesenteric cyst, Prominent nose, Gastroesophageal reflux, Pulmonary artery atresia, Long toe, Ant... OMIM:618316
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ectopic posterior pituitary, Congenital hip dislocation, Single transverse palmar... ORPHA:508488
Oculomaxillofacial Dysostosis
Brachydactyly, Corneal opacity, Camptodactyly of finger, Short stature, Abnormality of the humeru... ORPHA:1794
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Congenital hip dislocation, Proximal placement of thum... ORPHA:456312
Brachydactyly, Type A1
Short proximal phalanx of thumb, Radial deviation of the 3rd finger, Radial deviation of the 4th ... OMIM:112500
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Horseshoe kidney, Duode... ORPHA:2470
Alg3-Cdg
Abnormality of the gastrointestinal tract, Cataract, Abnormal pinna morphology, Abnormality of th... ORPHA:79321
Abruzzo-Erickson Syndrome
Toe syndactyly, Hypospadias, Short stature, Coronal hypospadias, Short toe, Conductive hearing im... ORPHA:921
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Acrofacial Dysostosis, Weyers Type
Postaxial hand polydactyly, Small hand, Facial cleft, Abnormal antihelix morphology, Clinodactyly... ORPHA:952
Shwachman-Diamond Syndrome
Delayed eruption of teeth, Abnormality of the gastrointestinal tract, Hepatomegaly, Hypopituitari... ORPHA:811
Spondylo-Ocular Syndrome
Retinal detachment, Aplasia/Hypoplasia of the lens, Ventricular septal defect, Cataract, Short st... ORPHA:85194
Acrocardiofacial Syndrome
Hypoplasia of penis, Atrial septal defect, Finger syndactyly, Hypospadias, Cryptorchidism, Split ... ORPHA:2008
Pseudotrisomy 13 Syndrome
Holoprosencephaly, Atrial septal defect, Micropenis, Encephalocele, Cryptorchidism, 2-3 toe synda... OMIM:264480
Peroxisome Biogenesis Disorder 1A (Zellweger)
Redundant neck skin, Single transverse palmar crease, Adrenal hypoplasia, Micrognathia, High, nar... OMIM:214100
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gastrointestinal dysmotility, Coloboma, High palate, Gastroesophageal reflux, Vesicoureteral refl... ORPHA:453499
Feingold Syndrome Type 2
Toe syndactyly, Ventricular septal defect, Jejunal atresia, Short stature, Short thumb, Short mid... ORPHA:391646
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Corneal opacity, Hearing impairment, Aplasia/Hypop... ORPHA:1647
Gillessen-Kaesbach-Nishimura Syndrome
Thickened nuchal skin fold, Ulnar deviation of the hand, Posteriorly rotated ears, Short neck, Un... OMIM:263210
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Posteriorly rotated ears, Short stature, Rena... OMIM:612946
Brachydactyly, Type A1, C
Brachydactyly, Short stature, Short middle phalanx of the 2nd finger, Short middle phalanx of the... OMIM:615072
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, Short stature, Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney di... OMIM:617661
Atelosteogenesis, Type Ii
Sandal gap, Depressed nasal bridge, Micromelia, Short neck, Micrognathia, Bifid humerus, Lacunar ... OMIM:256050
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Abnormal pinna morphology, Optic nerve hypoplasia, Low-set ears, Overlapping f... OMIM:609069
Marden-Walker Syndrome
Short neck, High, narrow palate, Zollinger-Ellison syndrome, High palate, Micropenis, Arachnodact... OMIM:248700
Fanconi Anemia, Complementation Group L
Short neck, Micrognathia, Anotia, Micropenis, Esophageal atresia, Wide nasal bridge, Renal hypopl... OMIM:614083
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Single transverse palmar crease, Micrognathia, Anteriorly placed anus, High palate... OMIM:619148
Kniest Dysplasia
Enlarged epiphyses, Rhegmatogenous retinal detachment, Abnormality of the epiphysis of the femora... ORPHA:485
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Ectopic kidney, Hydrocephalus, Tracheoesophageal fistula, Facial cleft... ORPHA:268249
Even-Plus Syndrome
Epiphyseal dysplasia, Recurrent urinary tract infections, Severe short stature, Short neck, Vesic... OMIM:616854
Unilateral Ocular Duplication
Encephalocele, Abnormal pupil morphology, Midline facial cleft, Cleft palate, Microcornea, Iris c... ORPHA:3374
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Micromelia, Short neck, Proximal placement of thumb, Ectopic kid... OMIM:122470
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate, Coloboma, Deep palmar crease, Microphthalmia OMIM:600251
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Elbow dislo... ORPHA:2631
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Aminoac... OMIM:619991
Roberts-Sc Phocomelia Syndrome
Short neck, Micrognathia, Tetraphocomelia, Coloboma, High palate, Phocomelia, Wrist flexion contr... OMIM:268300
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Micrognathia, Aqueductal stenosis, Hypoplasia of first ribs, Foo... OMIM:154400
22Q11.2 Deletion Syndrome
Short neck, Anorectal anomaly, Abnormal lung lobation, Abnormal aortic arch morphology, Gastroeso... ORPHA:567
Oculoauricular Syndrome
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... OMIM:612109
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... OMIM:218600
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Ventricular septal defect, Aplasi... ORPHA:2256
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Anophthalmia, Cutaneous finger syndactyly, Choan... OMIM:219000
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Attenuation of retinal blood vessels, Hepatomegaly, Cataract, Rhizomelia, Proteinuria, Glomerulon... OMIM:614376
Bardet-Biedl Syndrome 18
Renal insufficiency, Cataract, Retinal dystrophy, Stage 5 chronic kidney disease, Rod-cone dystro... OMIM:615995
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Proximal placement of thumb, Absent radius, Esophageal atresia, Hydrocephalus, Tra... OMIM:314390
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Depressed nasal bridge, Exocrine pancreatic insufficiency, Sensorineural hear... OMIM:618500
Pallister-Hall-Like Syndrome
Occipital encephalocele, Toe syndactyly, Depressed nasal bridge, Micromelia, Micrognathia, Postax... OMIM:241800
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Lens subluxati... ORPHA:171844
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Depressed nasal ridge, Absent nasal septal cartilage, Hip dislocation, Bilateral cle... ORPHA:2003
Mosaic Trisomy 1
Single transverse palmar crease, Renal cyst, Finger clinodactyly, Pulmonary artery atresia, Micro... ORPHA:1692
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Micromelia, Renal cyst, High palate, Hepatic fibrosis, Syndactyly, Hypospadias, Short stature, Re... OMIM:614091
Cerebrooculonasal Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Anophthalmia, Postaxial hand polydactyly,... ORPHA:66625
Smith-Magenis syndrome
Hyperactivity, Short stature, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly DECIPHER:8
Cleidorhizomelic Syndrome
Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph... ORPHA:1453
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Corneal opacity, Short stature, Abnormal pelvic girdle bone mo... ORPHA:2370
Fanconi Anemia, Complementation Group D2
Ectopic kidney, Aplasia of the 1st metacarpal, Micropenis, Pelvic kidney, Short thumb, Patent duc... OMIM:227646
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Overlapping toe, Arachnodactyly, Single transverse palmar crease, Biliary hyperplas... ORPHA:83617
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Prominent nose, Depressed nasal ridge, Triphalangeal thumb, Abno... ORPHA:2378
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short neck, Micrognathia, Large fleshy ears, Micropenis, Anteverted nares, Hypospadias, Decreased... OMIM:616897
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Optic nerve hypoplasia, Decreased response to growth hormone stimulati... OMIM:609053
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Mody
Abnormality of the kidney, Hepatocellular adenoma, Renal cyst, Glycosuria, Nephropathy, Intrauter... ORPHA:552
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, H... OMIM:113650
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Partial... ORPHA:476126
Smith-Lemli-Opitz Syndrome
Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Gastrointestinal dysmotili... OMIM:270400
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, Abnormal pinna morphology, ... ORPHA:556955
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Short neck, Microcornea, High palate, Clinodac... OMIM:201000
Oligomeganephronia
Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal ag... ORPHA:2260
Thanatophoric Dysplasia
Depressed nasal bridge, Micromelia, Hearing impairment, Abnormal sacroiliac joint morphology, Pat... ORPHA:2655
Scimitar Syndrome
Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ... ORPHA:185
Fryns Syndrome
Short neck, Micrognathia, Abnormal aortic arch morphology, High palate, Gastroesophageal reflux, ... ORPHA:2059
Eng-Strom Syndrome
Ventricular septal defect, Camptodactyly of finger, Short stature, Abnormal cardiac septum morpho... ORPHA:1937
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Single transverse palmar crease, Micrognathia, Gastroesophageal reflux, Choanal s... OMIM:620186
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Cupped ear,... ORPHA:1352
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Short neck, Sclerocornea, Micrognathia, Abnorma... ORPHA:818
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Macular dystrophy, Micropenis, Rod-cone dystrophy, Brachydactyly OMIM:615983
Sugarman Brachydactyly
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... OMIM:272150
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Thrombocytopenia-Absent Radius Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the h... ORPHA:3320
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... ORPHA:85169
Microphthalmia, Syndromic 12
Anophthalmia, Intestinal malrotation, Broad nasal tip, Micrognathia, Cryptorchidism, Wide nasal b... OMIM:615524
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... ORPHA:2141
Townes-Brocks Syndrome 1
Short metatarsal, Gastroesophageal reflux, Holoprosencephaly, Chorioretinal coloboma, Triphalange... OMIM:107480
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Abnormality of the upper urinary tract, Hypovolemia, Abnormal heart morphology, Renal ... ORPHA:99885
3Mc Syndrome 3
Abnormal pinna morphology, Corneal opacity, Short stature, Cryptorchidism, Preaxial polydactyly, ... OMIM:248340
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Short tibia, En... OMIM:616300
Brachydactyly, Type A3
Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... OMIM:112700
Frontonasal Dysplasia 1
Cataract, Conductive hearing impairment, Postaxial hand polydactyly, Anterior basal encephalocele... OMIM:136760
Tonne-Kalscheuer Syndrome
Decreased testicular size, Hypospadias, Prominent nasal bridge, Convex nasal ridge, Prominent nos... OMIM:300978
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Short stature, Avascular necrosis of the capital femoral epiphysis, Renal hypoplasia... OMIM:611555
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Short stature, Hearing impairment, Coloboma, Peters anomaly, Microphthalmia, Clinodac... OMIM:610023
Double Outlet Right Ventricle
Hypoparathyroidism, Tachycardia, Ventricular septal defect, Intestinal malrotation, Short stature... ORPHA:3426
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... OMIM:171480
Odontochondrodysplasia 1
Delayed eruption of teeth, Recurrent respiratory infections, Short metacarpal, Brachydactyly, Mic... OMIM:184260
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... OMIM:606835
Fanconi Anemia, Complementation Group F
Short stature, Pneumonia, Decreased response to growth hormone stimulation test, Absent thumb, Sh... OMIM:603467
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Recurrent respiratory infections, Absence of renal corticomedullary differentiation, Secundum atr... OMIM:619758
15Q11Q13 Microduplication Syndrome
Finger syndactyly, Short stature, Attention deficit hyperactivity disorder, Compulsive behaviors,... ORPHA:238446
Jeune Syndrome
Abnormality of retinal pigmentation, Renal insufficiency, Toe syndactyly, Short stature, Micromel... ORPHA:474
Burn-Mckeown Syndrome
Ventricular septal defect, Short stature, Unilateral renal agenesis, Conductive hearing impairmen... OMIM:608572
Stromme Syndrome
Accessory spleen, Cataract, Jejunal atresia, Intestinal malrotation, Sclerocornea, Optic nerve hy... OMIM:243605
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Optic atrophy, Bilateral talipes equinovarus, Pulmonary hypoplasia OMIM:618174
Vacterl Association With Hydrocephalus
Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Renal hypoplasia, Abnormal he... OMIM:276950
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Short stature, Camptodactyly of finger, Dextrocardia, Renal hypoplasia... ORPHA:2863
3C Syndrome
Hypoplasia of penis, Short neck, High, narrow palate, Gastroesophageal reflux, Abnormal tricuspid... ORPHA:7
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver... ORPHA:3032
Chromosome 22Q11.2 Deletion Syndrome, Distal
Intrauterine growth retardation, Truncus arteriosus, Short stature, Cleft palate OMIM:611867
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Low-set ears, Neonatal insulin-dependent diabetes mellitus, Optic nerve hypoplasia, Aplasia/Hypop... ORPHA:65288
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Coloboma Of Macula With Type B Brachydactyly
Type B brachydactyly, Renal agenesis, Bifid distal phalanx of the thumb, Coloboma, Absent distal ... OMIM:120400
Andersen-Tawil Syndrome
High palate, Prominent U wave, Abnormal T-wave, Prolonged QTc interval, Polymorphic and polytopic... ORPHA:37553
Ulnar-Mammary Syndrome
Hypoplasia of penis, Aplasia of the pectoralis major muscle, Abnormal finger morphology, Abnormal... ORPHA:3138
Laurence-Moon Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Renal insufficiency, B... ORPHA:2377
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micromelia, Bowing of the legs, Short neck, Micrognathia, Pterygium, Encephalocele, Cryptorchidis... ORPHA:1865
Isolated Atp Synthase Deficiency
Hepatomegaly, Cataract, Short stature, Sensorineural hearing impairment, Dilated cardiomyopathy, ... ORPHA:254913
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Short neck, Cryptorchidism, Sensorineural hearing impairment, Renal hypo... ORPHA:464288
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmotility, Protruding ear,... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmotility, Protruding ear,... ORPHA:352665
Distal Duplication 6P
Cataract, Short stature, Short neck, Aplasia/Hypoplasia of the earlobes, Abnormal lung lobation, ... ORPHA:1745
Genitopatellar Syndrome
Small scrotum, Prominent nose, Micrognathia, Gastroesophageal reflux, Short palm, Multicystic kid... ORPHA:85201
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Recurrent respiratory infections, Depressed nasal bridge, Single transverse palmar crease, Hearin... ORPHA:466950
Papillorenal Syndrome
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Short stat... OMIM:120330
Frontonasal Dysplasia 3
Posteriorly rotated ears, Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Facial clef... OMIM:613456
Supernumerary Nostril
Choanal atresia, Facial cleft, Developmental cataract, Microcornea, Supernumerary naris ORPHA:141096
Split-Hand/Foot Malformation 3
Abnormal pinna morphology, Split hand, Renal hypoplasia, Cleft palate, High palate, Camptodactyly OMIM:246560
Distal Limb Deficiencies-Micrognathia Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinu... ORPHA:1307
Distal 22Q11.2 Microduplication Syndrome
Micrognathia, Depressed nasal ridge, Protruding ear, High palate, Camptodactyly of toe, Branchial... ORPHA:261337
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Postaxial polydactyly, Renal hypoplasia, Pigmentary retinopathy, Rod-con... OMIM:600151
Brachydactyly, Type A4
Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Type A brachydact... OMIM:112800
Stuve-Wiedemann Syndrome 1
Single transverse palmar crease, Short neck, Micrognathia, Femoral bowing, Tibial bowing, Smooth ... OMIM:601559
2Q24 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Toe syndactyly, Cataract, Camptodactyly of finger, Short neck,... ORPHA:1617
Meier-Gorlin Syndrome 8
Bilateral cryptorchidism, Nephroptosis, Unilateral renal hypoplasia, Microtia, Low-set ears, Intr... OMIM:617564
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Triploidy
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Cataract, Hypospadias,... ORPHA:3376
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Left axis deviation, Arteria lusoria, Double ... OMIM:620294
Diaphanospondylodysostosis
Depressed nasal bridge, Short neck, Micrognathia, Missing ribs, Increased nuchal translucency, De... OMIM:608022
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Cach Syndrome
Cataract, Optic atrophy, Renal hypoplasia, Hepatosplenomegaly, Growth delay, Optic neuritis, Dysp... ORPHA:135
Constricting Bands, Congenital
Encephalocele, Syndactyly, Abnormal lung lobation, Facial cleft, Cleft palate, Hand polydactyly, ... OMIM:217100
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Single transverse palmar crease, ... OMIM:229850
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Bilateral cleft palate, Unilateral renal agenesis, Absent thumb, Unilater... OMIM:614900
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Femoral retroversion, Micrognathia, Pulmonary hypoplasia, T... OMIM:616531
Tetralogy Of Fallot
Cryptorchidism, Clinodactyly of the 5th finger, Intrauterine growth retardation, Tetralogy of Fal... ORPHA:3303
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Reduced circulating vitamin A concentration, Sensorineural hearing impairment, Decreased circulat... ORPHA:352641
Thiemann Disease, Familial Form
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:3314
Tetrasomy 5P
Recurrent respiratory infections, Redundant neck skin, Overlapping toe, Anteverted nares, Short h... ORPHA:3309
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Coloboma, Vesicoureteral reflux, Broad hallux, Hypospadias, Tapered finger, Cryptorchidism, Short... OMIM:618659
Brachydactyly, Type A2, With Microcephaly
Type A2 brachydactyly, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips,... OMIM:211369
Brachydactyly, Type A1, B
Short stature, Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short mi... OMIM:607004
Maternal Uniparental Disomy Of Chromosome 4
Short stature, Postnatal growth retardation, Sensorineural hearing impairment, Decreased circulat... ORPHA:96180
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Short neck, Abnormal nasa... ORPHA:1466
Alagille Syndrome 2
Renal insufficiency, Posterior embryotoxon, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasi... OMIM:610205
Achondrogenesis Type 2
Retinal detachment, Cataract, Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal o... ORPHA:93296
Weill-Marchesani Syndrome 3
Short stature, Ectopia lentis, Microspherophakia, Shallow anterior chamber, Pulmonic stenosis, Ao... OMIM:614819
Alagille Syndrome 1
Multiple small medullary renal cysts, Microcornea, Vesicoureteral reflux, Atrial septal defect, A... OMIM:118450
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Senior-Boichis Syndrome
Polydipsia, Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, M... ORPHA:84081
16P12.1P12.3 Triplication Syndrome
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, High, narrow pal... ORPHA:485405
15Q24 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Proximal placement of thumb, ... ORPHA:94065
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Postaxial hand polydactyly ORPHA:2935
Brachydactyly, Type D
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly OMIM:113200
Ritscher-Schinzel Syndrome 1
Syndactyly, Ventricular septal defect, Hypospadias, Decreased response to growth hormone stimulat... OMIM:220210
Czeizel-Losonci Syndrome
Single transverse palmar crease, Micrognathia, High palate, Spina bifida occulta, Prominent antit... ORPHA:2437
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary veno... OMIM:617478
Meckel Syndrome, Type 1
Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Short neck, Asplenia, M... OMIM:249000
Chromosome 15Q13.3 Deletion Syndrome
Clinodactyly of the 5th finger, Abnormal pinna morphology, Brachydactyly OMIM:612001
Meckel Syndrome 14
Occipital encephalocele, Short neck, Micrognathia, Hepatic fibrosis, Holoprosencephaly, Microretr... OMIM:619879
Carpenter Syndrome
Finger syndactyly, Syndactyly, Toe syndactyly, Cryptorchidism, Patent ductus arteriosus, Postaxia... ORPHA:65759
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Ventricular septal defect, Unilateral renal age... ORPHA:3306
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Scapular winging, Internally rotated shoulders, Micrognathia, Elbow flexion cont... OMIM:617468
Chromosome 20Q11-Q12 Deletion Syndrome
Brachydactyly, Hearing impairment, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Intrau... OMIM:614257
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Cataract, Hearing impairment, Short neck, Myelomeningocele, Hydrocephalus, Optic a... ORPHA:1914
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,... OMIM:137920
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Bowing of the long bones, Cataract, Posteriorly rotated ears, Micromelia... OMIM:224410
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Posteriorly rotated ears,... OMIM:600325
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Abnormal pinna morphology, Short stature, Pulmonary artery stenosis, P... ORPHA:75389
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:142900
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Syndactyly, Hypospadias, Single transverse palmar crea... ORPHA:1708
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Adams-Oliver Syndrome
Pulmonary artery atresia, Encephalocele, Finger syndactyly, Portal hypertension, Congenital hepat... ORPHA:974
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Short palm, Synostosis of carpal bones, Encepha... ORPHA:90652
Chromosome 15Q26-Qter Deletion Syndrome
Hypospadias, Short stature, Cryptorchidism, Abnormal cardiac septum morphology, Short middle phal... OMIM:612626
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Short foot, Growth delay, Aplasia... ORPHA:52056
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Broad hallux, Renal agenesis, Ectopic kidney, Hypoplasia of t... OMIM:212780
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Abnormal circulating vitamin E concentration, Abnormal circulating vitamin A concentration ORPHA:209902
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Redundant neck skin, Lacticaciduria, Cardiomyopathy, Pulm... OMIM:619003
Teebi Hypertelorism Syndrome 1
Natal tooth, Anteverted nares, Depressed nasal bridge, Micrognathia, Small hand, Wide nasal bridg... OMIM:145420
Atelosteogenesis Type Ii
Micromelia, Short neck, Micrognathia, Short phalanx of finger, Broad metacarpals, Hypoplastic cer... ORPHA:56304
Branchiooculofacial Syndrome
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Short neck, Micrognat... OMIM:113620
Smith-Magenis Syndrome
Retinal detachment, Hyperactivity, Short stature, Hearing impairment, Velopharyngeal insufficienc... OMIM:182290
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... ORPHA:1350
17Q12 Microdeletion Syndrome
Elevated hepatic transaminase, Multicystic kidney dysplasia, Diabetes mellitus, Renal insufficien... ORPHA:261265
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Weill-Marchesani Syndrome 2
Short metatarsal, High palate, Thickened helices, Broad metacarpals, Short metacarpal, Short stat... OMIM:608328
Acrodysostosis
Micromelia, Short metatarsal, Depressed nasal ridge, Hypoplasia of the ulna, Short metacarpal, An... ORPHA:950
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly, Hydrocephalus OMIM:615938
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Sh... OMIM:618460
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Depressed nasal bridge, Camptodactyly of finger, Posteriorly rotated ears,... ORPHA:994
Carpal Tunnel Syndrome 1
Reduced circulating vitamin B6 level OMIM:115430
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Cataract, Camptodactyly of finger, Conductive hearing impairme... ORPHA:306542
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Spondylodysplastic Ehlers-Danlos Syndrome
Single transverse palmar crease, Micrognathia, Metaphyseal widening, Abnormal finger morphology, ... ORPHA:536471
Roifman Syndrome
Noncompaction cardiomyopathy, Short metacarpal, Hip contracture, Ventricular septal defect, Singl... OMIM:616651
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short neck, Micrognathia, Preaxial polydactyly, Absent nasal bridge, Narrow greater sciatic notch... OMIM:617925
Acro-Renal-Mandibular Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula... ORPHA:958
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Cardiomegaly, Ventricular tachycardia, Atrioventricular block, Re... ORPHA:137675
Multiple Epiphyseal Dysplasia, Beighton Type
Coxa vara, Abnormal hip joint morphology, Arthralgia of the hip, Abnormal acetabulum morphology, ... ORPHA:166011
Boomerang Dysplasia
Underdeveloped nasal alae, Absent radius, Wide nasal bridge, Hypoplastic nasal septum, Hypoplasti... OMIM:112310
Ulnar-Mammary Syndrome
Deformed radius, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplas... OMIM:181450
Phenobarbital Embryopathy
Hypospadias, Aplasia/Hypoplasia of fingers, Low-set ears, Abnormal mitral valve morphology, Tetra... ORPHA:1919
Sponastrime Dysplasia
Aplasia of the nasal bone, Metaphyseal widening, Osteopathia striata, Delayed epiphyseal ossifica... ORPHA:93357
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Rhizomelia, Depressed nasal bridge, Micromelia, Short neck, Dumbbell-shaped long b... OMIM:151210
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Wide nose, Abnormal nasal bone morphology, Choanal atresia, Abnormality of the hand, Underdevelop... ORPHA:521308
20Q11.2 Microdeletion Syndrome
Brachydactyly, Hearing impairment, Finger clinodactyly, Camptodactyly, Intrauterine growth retard... ORPHA:444051
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Sensorineural hearing impairment, Radioulnar synostosis, Hip dysplasia, Clinod... ORPHA:71289
Townes-Brocks Syndrome
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Chorioretinal coloboma, Triphalangea... ORPHA:857
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Abnormality ... ORPHA:2911
Developmental Delay With Or Without Dysmorphic Facies And Autism
2-3 toe cutaneous syndactyly, Renal cyst, Microphallus, Compulsive behaviors, Vesicoureteral refl... OMIM:618454
Multiple Synostoses Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa... ORPHA:3237
Cornelia De Lange Syndrome 2
Short stature, Proximal placement of thumb, Limited elbow movement, Short neck, Postnatal growth ... OMIM:300590
Greenberg Dysplasia
Micromelia, Micrognathia, Abnormal lung lobation, Depressed nasal ridge, Tetraphocomelia, Hypopla... OMIM:215140
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Fanconi Anemia, Complementation Group U
Absent thumb, Absent radius, Ectopic kidney, Patent ductus arteriosus, Hypoplasia of the radius, ... OMIM:617247
Lethal Congenital Contracture Syndrome 11
Microretrognathia, Elbow flexion contracture, Bilateral talipes equinovarus, Pulmonary hypoplasia... OMIM:617194
Frontonasal Dysplasia 2
Encephalocele, Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridg... OMIM:613451
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Tetrasomy X
Clinodactyly of the 5th finger, Radioulnar synostosis, Hip dysplasia, Brachydactyly ORPHA:9
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Anteverted nares, Pulmonary hypoplasia, Upper limb undergrowth, Adrenal hypoplasia OMIM:613124
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Prominent superficial veins, Short stature, Down-sloping shoulders, Cryptorchidism, Sensorineural... OMIM:616817
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the kidney, Cryptorchidism, Renal cyst, Polydactyly, Rod-cone dystroph... OMIM:615982
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal mitral valve morphology, Brachydactyly, Abnormal shoulder morphology, Mesomelia ORPHA:1277
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Myopic astigmatism, Myelomeningoc... OMIM:620141
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Renal tubular ac... OMIM:614922
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Severe short stature, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Bro... OMIM:609052
Ventriculomegaly With Defects Of The Radius And Kidney
Bowed forearm bones, Ureteral duplication, Absent thumb, Absent radius, Ectopic kidney, Hydroceph... OMIM:602200
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Anteverted nares, Intestinal malrotation, Pulmonary hypoplasia, Low-s... OMIM:601163
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test, Absent thumb, Hypoplasia of the radius, Re... OMIM:617784
Acrocephalopolydactyly
Short neck, Abnormal renal morphology, Hepatosplenomegaly, Short long bone, Microtia, Limb underg... ORPHA:221054
Radial Aplasia, X-Linked
Absent radius, Hydrocephalus, Penile hypospadias, Anal atresia OMIM:312190
Scalp-Ear-Nipple Syndrome
Underdeveloped antitragus, Anteverted ears, Protruding ear, Anisocoria, Clinodactyly of the 5th f... OMIM:181270
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Attached earlobe, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly o... ORPHA:1327
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Short stature, Sensorineural hearing impairment, Submucous cleft hard palate, Vesicoureteral refl... OMIM:617660
Alg9-Cdg
Villous atrophy, Short neck, Micrognathia, Abnormal lung lobation, Large fleshy ears, Gastroesoph... ORPHA:79328
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Small scrotum, Multiple pterygia, Micrognathia, Symphalangism affecting the ... ORPHA:2990
1Q41Q42 Microdeletion Syndrome
Depressed nasal bridge, Hypergonadotropic hypogonadism, Broad nasal tip, Underdeveloped nasal ala... ORPHA:250999
Lessel-Kubisch Syndrome
Hypertension, Renal insufficiency, Short stature, Renal hypoplasia OMIM:618681
Arthrogryposis, Distal, Type 2B2
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor... OMIM:618435
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... ORPHA:93111
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Short neck, Abnormal hand... OMIM:200600
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Short stature, Splenomegaly, Postaxial hand polydactyly,... OMIM:615630
Pancreatic Triacylglycerol Lipase Deficiency
Decreased circulating vitamin E concentration, Growth delay, Reduced circulating vitamin A concen... ORPHA:309031
Degcags Syndrome
Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, High palate, Gastroesophageal reflux, Atri... OMIM:619488
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab... ORPHA:980
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Short stature, Decreased palmar creases, Cryptorchidism, Repetitive compulsive beh... ORPHA:352490
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... ORPHA:904
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Posteriorly rotated ears, Short stature, Delayed ossification of carpal bones, Short fe... OMIM:618392
Thanatophoric Dysplasia Type 2
Encephalocele, Short stature, Abnormality of the kidney, Micromelia, Hearing impairment, Increase... ORPHA:93274
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Peters-Plus Syndrome
Ureteral duplication, Single transverse palmar crease, Limited elbow movement, Short neck, Proxim... OMIM:261540
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Micrognathia, Metaphyseal widening, Microcornea, High palate, Arachnodactyly, Repeated pneumothor... ORPHA:536467
Phocomelia, Schinzel Type
Hypoplasia of penis, Micromelia, Short neck, Micrognathia, High, narrow palate, Abnormal tibia mo... ORPHA:2879
Distal Triplication 15Q
Arachnodactyly, Corneal dystrophy, Abnormal external genitalia, Micrognathia, Patent ductus arter... ORPHA:314588
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Micrognathia, Depressed nasal ridge, Cleft palate, Pulmonary hypoplasia, Short... OMIM:312150
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Cerebrofacioarticular Syndrome
Syndactyly, Anal stenosis, Hypospadias, Short stature, Renal hypoplasia, Abnormal heart morpholog... ORPHA:314679
Rauch-Steindl Syndrome
Attached earlobe, Hepatomegaly, Hyperactivity, Short stature, Aggressive behavior, Prominent crus... OMIM:619695
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Single transverse palmar crease, Short neck, Protruding ear, High palate, ... OMIM:612474
Terminal Osseous Dysplasia
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... OMIM:300244
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Syndactyly, Renal insufficiency, Cataract, Bone spicule pig... OMIM:615986
Trisomy 8P
Short fourth metatarsal, Abnormal atrioventricular connection, Single transverse palmar crease, S... ORPHA:264450
Osteoporosis, Juvenile
Low serum calcitriol OMIM:259750
11Q22.2Q22.3 Microdeletion Syndrome
Bilateral single transverse palmar creases, Posteriorly rotated ears, High, narrow palate, Small ... ORPHA:444002
Vater/Vacterl Association
Occipital encephalocele, Abnormal nasopharynx morphology, Ectopic kidney, Preaxial polydactyly, P... OMIM:192350
Laurin-Sandrow Syndrome
Syndactyly, Underdeveloped nasal alae, Absent radius, Patellar aplasia, Short foot, Hand polydact... OMIM:135750
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Short stature, Micromelia, Abnormality of the upper urinary tract, Abnormality... ORPHA:2145
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Camptodactyly of finger, Supernumerary nipple, Tapered finger, Facial cleft, Large earlobe, Hypop... ORPHA:1236
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Kury-Isidor Syndrome
Finger syndactyly, Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, Sh... OMIM:619762
Gordon Syndrome
Finger syndactyly, Short stature, Camptodactyly of finger, Cryptorchidism, Cleft palate, High pal... ORPHA:376
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Anteverted nares, Depressed ... ORPHA:50945
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney, Absent radius, External ear malformation, Absent thumb OMIM:179280
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Micromelia, Micrognathia, Renal cyst, Short palm, Depressed nasal bridge, Ur... ORPHA:93271
Pancreatic Agenesis 2
Diabetes mellitus, Pancreatic aplasia, Steatorrhea, Pancreatic hypoplasia, Exocrine pancreatic in... OMIM:615935
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Cockayne Syndrome Type 3
Mild postnatal growth retardation, Microcornea, Lentiglobus, Gastroesophageal reflux, Adult onset... ORPHA:90324
Formiminoglutamic Aciduria
Atrial septal defect, Increased blood folate concentration, Abnormality of folate metabolism ORPHA:51208
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx, Microcornea, Iris coloboma, Disloc... ORPHA:2839
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Retinal detachment, Cataract, Broad hallux, Hearing impairment, Limited e... ORPHA:1856
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Short neck, Delayed epiphyseal ossification, Preaxia... OMIM:210710
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short neck, High palate, Ocular anterior segment dysgenesis, Patent foramen ovale, Syndactyly, Hy... ORPHA:369891
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Cataract, Retinal thinning, Short stature, Coxa valga, Genu valgum, Asteroi... OMIM:132450
2Q37 Microdeletion Syndrome
Short neck, Compulsive behaviors, Short palm, Conductive hearing impairment, Clinodactyly of the ... ORPHA:1001
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Short stature, Abnormality of the elbow, Radioulnar synostosis, Clinodactyly o... ORPHA:3268
Kagami-Ogata Syndrome
Hepatomegaly, Anteverted nares, Depressed nasal bridge, Coxa valga, Micrognathia, Long fingers, S... OMIM:608149
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Crypt... OMIM:227650
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Short stature, Single transverse palmar crease, Bifid distal phalanx of the thumb,... ORPHA:370010
Holoprosencephaly 4
Median cleft lip and palate, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nas... OMIM:142946
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Abnormal pinna morphology, Micromelia, Shor... OMIM:200995
Holoprosencephaly 2
Aplasia of the nasal bone, Remnants of the hyaloid vascular system, Diabetes insipidus, Proboscis... OMIM:157170
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Brachydactyly, Epiphyseal dysplasia, Retinal dystr... ORPHA:353298
Combined Oxidative Phosphorylation Deficiency 2
Elevated hepatic transaminase, Redundant neck skin, Patent ductus arteriosus, Low-set ears, Neona... OMIM:610498
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Short stature, Osteolysis involving bones of the upper limbs, Osteolysis involving bo... ORPHA:88630
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac... OMIM:610140
Otodental Syndrome
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Cataract, Anteverted ... ORPHA:2791
Fanconi Anemia, Complementation Group E
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Cryptorchidism, Ectopic... OMIM:600901
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Abnormal pinna morphology, Pericardial effusion, Perianal abscess, Cryptorchidism, Small hand, Ov... OMIM:614684
Coffin-Siris Syndrome 1
Single transverse palmar crease, Ectopic kidney, Prominent interphalangeal joints, High palate, C... OMIM:135900
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Gastroesophageal reflux, Micropenis, Short statu... OMIM:134780
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypoplasia of penis, Renal insufficiency, Cataract, Short stature, Telangiectasia of the skin, Cr... ORPHA:85321
Vacterl With Hydrocephalus
Absence of the sacrum, Microtia, third degree, Anophthalmia, Spina bifida, Micrognathia, Aqueduct... ORPHA:3412
Pancreatic Agenesis 1
Pancreatic hypoplasia, Intrauterine growth retardation, Pancreatic aplasia, Exocrine pancreatic i... OMIM:260370
Temtamy Syndrome
Brachydactyly, Short toe, Aortic aneurysm, Chorioretinal coloboma, Low-set ears, Clinodactyly of ... ORPHA:1777
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Small hand, Short foot, Self-injurious behavior, Intrauterine growth retardation, Abnormal repeti... OMIM:615282
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Ketonuria, Single transverse palmar crease, Renal hypoplasia, High palate, Micropht... OMIM:619053
Moebius Syndrome
Decreased testicular size, Syndactyly, Brachydactyly, Abnormal pinna morphology, Short neck, Micr... OMIM:157900
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentatio... OMIM:615994
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Finger syndactyly, Hepatomegaly, Aortopulmonary collateral arteries, Optic nerv... OMIM:620025
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Micrognathia, Depressed nasal ridge, Cleft palate, Pulmonary hypoplasia, Short... OMIM:253290
Lethal Congenital Contracture Syndrome 10
Torticollis, Stiff neck, Overriding aorta, Short neck, Micrognathia, Narrow palate, Femoral bowin... OMIM:617022
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ... ORPHA:1190
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Abnormal pericardium morphology, Pneumonia, Abnor... ORPHA:2357
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... ORPHA:40366
Mesomelia-Synostoses Syndrome
Micromelia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morphology, Clinodacty... ORPHA:2496
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal femoral epiphysis morphology, Sho... ORPHA:750
Schinzel-Giedion Syndrome
Short neck, Micrognathia, Renal cyst, Tibial bowing, Anteriorly placed anus, High palate, Choanal... ORPHA:798
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Raine Syndrome
Micromelia, Short neck, Micrognathia, Protruding ear, High palate, Choanal stenosis, Neonatal dea... OMIM:259775
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hypoplasia, Neona... OMIM:614096
Tarp Syndrome
Single transverse palmar crease, Micrognathia, Glossoptosis, Small earlobe, Low-set, posteriorly ... ORPHA:2886
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic... OMIM:614377
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Hydroce... OMIM:187600
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Ureteral duplication, Asplenia, Dextrotransposition of the great arte... OMIM:270100
Meckel Syndrome, Type 6
Occipital encephalocele, Absent gallbladder, Abnormal internal genitalia, Postaxial hand polydact... OMIM:612284
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abnormal carp... ORPHA:85166
Syndromic Diarrhea
Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym... ORPHA:84064
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Short stature, Flat capit... OMIM:226900
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microcornea, Coloboma, Chorioretinal coloboma, Triphalangeal thumb, Vesico... ORPHA:959
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Tapered finger, Aggressive behavior, Long fingers, Low-s... OMIM:609425
Distal Deletion 10Q
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Functional abnormality of the blad... ORPHA:96148
Coffin-Siris Syndrome 6
Posteriorly rotated ears, Short stature, High, narrow palate, Conductive hearing impairment, Clef... OMIM:617808
Keratoconus Posticus Circumscriptus
Keratoconus, Limited elbow extension and supination, Recurrent urinary tract infections, Short ne... OMIM:244600
Fanconi Anemia, Complementation Group C
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Cryptorchidism, Ectopic... OMIM:227645
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal thumb morphology, Type A brachydactyly, Abnormal metacarpal morphology ORPHA:1078
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Supernumerary nipple, Cryp... OMIM:612530
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Hypoplas... OMIM:617895
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa... OMIM:251450
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Hyperactivity, Sandal gap, Abnormal pinna morphology, Hearing impairme... OMIM:614607
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Uplifted earl... OMIM:613406
Alg6-Cdg
Jaundice, Shortening of all distal phalanges of the fingers, Macroglossia, Abnormality of the liv... ORPHA:79320
Short Stature, Microcephaly, And Endocrine Dysfunction
Cataract, Short stature, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Sensorineural... OMIM:616541
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Temtamy Syndrome
Aortic regurgitation, Lop ear, Lens luxation, Ectopia lentis, Self-mutilation, Hip dislocation, A... OMIM:218340
Focal Dermal Hypoplasia
Acute hepatic failure, Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Gastroesophageal ... ORPHA:2092
Temtamy Preaxial Brachydactyly Syndrome
Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syndactyly, Abnor... ORPHA:363417
Fraser Syndrome 2
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Short neck, Rectal atresia, Re... OMIM:617666
Systemic Sclerosis
Intestinal bleeding, Interstitial cardiac fibrosis, Gastroesophageal reflux, Abnormal small intes... ORPHA:90291
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Short neck, Protruding tongue, Cryptorchidism, Patent ductus arteriosu... OMIM:612938
Van Maldergem Syndrome 2
Short fourth metatarsal, Anteriorly placed anus, Cutaneous syndactyly of toes, Cutaneous finger s... OMIM:615546
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Rocker bottom foot, Renal hypoplasia, Lacticaciduria, Aminoaciduria, 3-Methylglutac... OMIM:604273
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, 3-Methylglutaconic aciduria, Pulmonary hypoplasia OMIM:615228
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Micrognathia, Large fleshy ears, Gastroesophageal reflux, High palate, Vesi... OMIM:614080
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Low-set, posteriorly rotated ears, Brachydactyly, Ventricular septal defect, Short stature, Renal... ORPHA:1770
Diamond-Blackfan Anemia 1
Short neck, High palate, Triphalangeal thumb, Atrial septal defect, Spina bifida occulta, Short s... OMIM:105650
Vacterl/Vater Association
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Ectopic kidney, Abnormality of the u... ORPHA:887
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Low-set, posteriorly rotated ears, Short stature, Hearing impairment, Cryptorchidism, Hydrocephal... ORPHA:2701
Suleiman-El-Hattab Syndrome
Recurrent respiratory infections, Optic disc pallor, Ventricular septal defect, Single transverse... OMIM:618950
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... OMIM:149730
12Q14 Microdeletion Syndrome
Short stature, Intestinal malrotation, Ectopic kidney, Abnormality of the spleen, Renal hypoplasi... ORPHA:94063
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Rhizomelia, Short stature, Short neck, Abnormality of the humerus, Preaxial hand p... ORPHA:3098
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstruc... OMIM:601389
Lethal Congenital Contracture Syndrome Type 1
Low-set, posteriorly rotated ears, Short neck, Micrognathia, Abnormality of the elbow, Slender lo... ORPHA:1486
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
6P22 Microdeletion Syndrome
Finger syndactyly, Short neck, Patent ductus arteriosus, Hydrocephalus, Overfolded helix, Low-set... ORPHA:251046
Coach Syndrome 1
Occipital encephalocele, Multiple small medullary renal cysts, Renal cyst, Coloboma, Hepatic fibr... OMIM:216360
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Preaxial hand polydactyly, P... OMIM:175700
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Early ossification of capital femoral epiphyses, Renal cyst, Hepatic fibrosis, Hypoplastic iliac ... OMIM:208500
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... ORPHA:93396
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Tricuspid regurgitation, Hypoperistalsis, Renal... OMIM:611376
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Abnormality of the liver, High palate, Abnormality of th... ORPHA:84
Distal Deletion 15Q
Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Abnormal aortic arch... ORPHA:1596
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short... OMIM:604381
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... OMIM:611263
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Depressed nasal bridge, Micromelia, Short neck, Postaxial polydactyly, Hamartoma of tongue, Aplas... OMIM:616546
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Hepatic fibrosis, Atrial septal defect, Intrauterine growth retardation, Patent foramen ovale, Ac... OMIM:620005
Microphthalmia, Syndromic 1
Anophthalmia, Bicuspid aortic valve, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal... OMIM:309800
Chromosome 2Q37 Deletion Syndrome
Short metacarpal, Short fourth metatarsal, Hyperactivity, Short stature, Aggressive behavior, Abn... OMIM:600430
Digeorge Syndrome
Sclerocornea, High, narrow palate, Parathyroid hypoplasia, High palate, Gastroesophageal reflux, ... OMIM:188400
Monosomy 5P
Low-set, posteriorly rotated ears, Finger syndactyly, Short stature, Short neck, Small hand, High... ORPHA:281
Congenital Myopathy 17
Ureteropelvic junction obstruction, Overlapping toe, Tapered finger, Respiratory tract infection,... OMIM:618975
Weill-Marchesani Syndrome 1
Cataract, Ventricular septal defect, Short stature, Proportionate short stature, Ectopia lentis, ... OMIM:277600
Hypercholanemia, Familial, 2
Low levels of vitamin D OMIM:619256
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Abnormal pinna morphology, Split hand, Hand oligodactyly, Cleft palate,... OMIM:183600
Esophageal Atresia
Bronchitis, Maternal diabetes, Gastrointestinal dysmotility, Anorectal anomaly, Coloboma, Gastroe... ORPHA:1199
Cockayne Syndrome
Urinary incontinence, Retinal arteriolar constriction, Gastroesophageal reflux, Lentiglobus, Reti... ORPHA:191
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Ventricular septal defec... ORPHA:1458
Van Maldergem Syndrome 1
Short fourth metatarsal, Hypospadias, Sensorineural hearing impairment, Renal hypoplasia, Anterio... OMIM:601390
Feingold Syndrome
Hallux valgus, Toe syndactyly, Short stature, External ear malformation, Esophageal atresia, Pate... ORPHA:1305
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Sh... OMIM:609945
Renal Tubular Dysgenesis
Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropathy, Bilateral single t... ORPHA:3033
Multiple Epiphyseal Dysplasia Type 4
Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Arthral... ORPHA:93307
Brachydactyly Type C
Stippling of the epiphysis of the distal phalanx of the thumb, Short stature, Short metatarsal, S... ORPHA:93384
Neu-Laxova Syndrome
Cataract, External genital hypoplasia, Spina bifida, Micromelia, Micrognathia, Submucous cleft ha... ORPHA:2671
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Optic disc coloboma, Optic nerve dysplasia, Re... ORPHA:1475
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius, Cleft palate OMIM:179400
Weill-Marchesani Syndrome
Cataract, Ventricular septal defect, Short stature, Ectopia lentis, Short thumb, Mitral regurgita... ORPHA:3449
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms, Short stature OMIM:300271
Tarp Syndrome
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Neonatal death, Antever... OMIM:311900
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, High, narrow palate... OMIM:209900
Lacrimoauriculodentodigital Syndrome
Xerostomia, Conductive hearing impairment, Vesicoureteral reflux, Abnormal salivary gland morphol... ORPHA:2363
Emery-Nelson Syndrome
Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Low ... ORPHA:1927
3P25.3 Microdeletion Syndrome
Proximal placement of thumb, High, narrow palate, Atrial septal defect, Abnormal repetitive manne... ORPHA:435638
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... ORPHA:93320
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Single transverse palmar cr... OMIM:618870
Aase-Smith Syndrome
Abnormal pinna morphology, Camptodactyly of finger, Cleft palate, Aplasia/Hypoplasia of the radiu... ORPHA:916
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Muenke Syndrome
Broad hallux, Hearing impairment, Capitate-hamate fusion, Sensorineural hearing impairment, Cone-... OMIM:602849
Ogden Syndrome
Redundant neck skin, Congenital hip dislocation, Maternal diabetes, Short neck, Micrognathia, Mic... OMIM:300855
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Abetalipoproteinemia
Reduced circulating vitamin A concentration, Low levels of vitamin D, Decreased circulating vitam... ORPHA:14
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Short phalanx of finger, S... ORPHA:85167
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Pulmonary hypoplasia, Dysphagia OMIM:616867
Severe Congenital Nemaline Myopathy
Hypospadias, Facial palsy, Facial diplegia, Pulmonary hypoplasia, Low-set ears, Dysphagia, Microp... ORPHA:171430
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Malformation of the hepatic ductal plat... OMIM:208540
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Short neck, Aplasia/hypoplasia of the extremities, Femoral bowing, Anteriorly disp... OMIM:276820
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Redundant neck skin, Peripheral retinal avascularization, Single transverse palmar crease, Extern... ORPHA:96334
Anauxetic Dysplasia 2
Metaphyseal dysplasia, Hypoplasia of the femoral head, Short stature, Short neck, Coxa valga, Cox... OMIM:617396
Schaaf-Yang Syndrome
Short stature, Rocker bottom foot, Impulsivity, Tapered finger, Cryptorchidism, Small hand, Narro... OMIM:615547
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Low-set, posteriorly rotated e... ORPHA:1908
Multiple Pterygium Syndrome, Escobar Variant
Short neck, Micrognathia, High palate, Intercrural pterygium, Conductive hearing impairment, Camp... OMIM:265000
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Sandal gap, Macrodactyly, Splenomegaly, Renal hypoplasia, Spinal dysraphism, Webbed neck, Nephrob... OMIM:612918
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... OMIM:615170
Fg Syndrome Type 1
Single transverse palmar crease, High palate, Gastroesophageal reflux, Compulsive behaviors, Atri... ORPHA:93932
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Depressed nasal bridge, Abnormal pinna morphology, Glutaric aciduria, Jaundice, Gen... OMIM:231680
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Retinal detachment, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges... OMIM:609616
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... OMIM:301068
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Toe syndactyly, Sensorineural hearing impairment, Absent middle phalanx of 5th finger, Bilateral ... OMIM:124480
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Abnormality of the kidney, Micromelia, Hearing impairment,... ORPHA:1860
Aarskog-Scott Syndrome
Delayed eruption of teeth, Finger syndactyly, Low-set, posteriorly rotated ears, Short stature, S... ORPHA:915
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Epiphyseal dysplasia, Congenital hip dislocation, Cataract, Splenomegaly, Optic atrophy, Renal hy... OMIM:617913
Kleefstra Syndrome 1
Natal tooth, Recurrent respiratory infections, Hypospadias, Single transverse palmar crease, Hear... OMIM:610253
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Meckel Syndrome 12
Ureteral hypoplasia, Rocker bottom foot, Renal hypoplasia, Antecubital pterygium, Bilateral renal... OMIM:616258
Hartsfield Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Depressed nasal bridge, Split hand, Cleft palat... ORPHA:2117
Cri-Du-Chat Syndrome
Single transverse palmar crease, Short neck, Short metatarsal, High palate, Gastroesophageal refl... OMIM:123450
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Posteriorly rotated ears, Short stature, Small ... OMIM:617450
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... ORPHA:380
White-Sutton Syndrome
Short neck, High palate, Gastroesophageal reflux, Tics, Atrial septal defect, Patent foramen oval... OMIM:616364
Meier-Gorlin Syndrome 7
Urethral stricture, Bowing of the legs, Heart block, Anteriorly placed anus, High palate, Vesicou... OMIM:617063
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Developmental cataract, Coloboma, Retinal dysplasia, Micr... ORPHA:324416
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Williams-Beuren Syndrome
Bicuspid aortic valve, Rectal prolapse, Nephrocalcinosis, Gastroesophageal reflux, Vesicoureteral... OMIM:194050
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Short stature, Hearing impairment, Capitate-hamate fusion, Short toe, Limited e... OMIM:614078
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Ventricular septal defect, Single transverse palmar crease, Sandal gap, Tapered... OMIM:617061
Weyers Acrofacial Dysostosis
Postaxial hand polydactyly, Postaxial foot polydactyly, Prominent antihelix, Short palm, Clinodac... OMIM:193530
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Congenital sensorineural hearing i... ORPHA:500159
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Hydrocephalus, Optic atrophy, Elbow flexion contracture, Abno... OMIM:619470
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Facial palsy, High palate, Pulmonary hypoplasia OMIM:255320
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 2nd finger, Broad hallux, Ventricular septal defect, Sandal gap, Short stature, Secundum at... OMIM:600987
Jacobsen Syndrome
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Short neck, Pyloric ste... OMIM:147791
Gillespie Syndrome
Aniridia, Hypoplasia of the iris, Truncus arteriosus OMIM:206700
Mckusick-Kaufman Syndrome
Urethral stricture, Glandular hypospadias, High palate, Atrial septal defect, Finger syndactyly, ... ORPHA:2473
Pontocerebellar Hypoplasia, Type 11
Recurrent respiratory infections, Short stature, Coloboma, Self-injurious behavior, Talipes equin... OMIM:617695
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi... ORPHA:93308
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Adrenal hypop... OMIM:308050
Orofaciodigital Syndrome Vi
Tibial bowing, Lobulated tongue, High palate, Conductive hearing impairment, Short stature, Hamar... OMIM:277170
Craniofrontonasal Dysplasia
Thickened nuchal skin fold, Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of... ORPHA:1520
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Toe syndactyly, Short stature, Camptodactyly of finger, Short neck, Cryptorc... ORPHA:3409
Jacobsen Syndrome
Short neck, Microcornea, Long hallux, Iris coloboma, Abnormality of the anus, Low-set, posteriorl... ORPHA:2308
Fraser Syndrome
Hypoplasia of penis, Cleft ala nasi, Anophthalmia, Small scrotum, Abnormal lung lobation, Urethra... ORPHA:2052
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Ventricular septal defect, Single transverse palmar crease, Slender finger... ORPHA:329224
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short stature, Hypertension, Short phalanx of finger, Brachydactyly ORPHA:1276
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Micrognathia, Elevated circulating thyroid-stimulating hormone concent... OMIM:601812
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormal... ORPHA:1040
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the distal pha... OMIM:113000
Achondroplasia
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Depressed nasal bridge, Bowing of the legs... OMIM:100800
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Sh... ORPHA:2994
Neu-Laxova Syndrome 1
Micromelia, Short neck, Micrognathia, Calcaneovalgus deformity, Depressed nasal ridge, Neonatal d... OMIM:256520
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Hearing impairment, Brachydactyly ORPHA:35099
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Urinary incontinence, Short s... OMIM:617927
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Cataract, Multicystic kidney dyspla... ORPHA:3301
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped... OMIM:156530
Cornelia De Lange Syndrome 5
Toe syndactyly, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Short neck... OMIM:300882
Microcephaly 20, Primary, Autosomal Recessive
Short stature, Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agene... OMIM:617914
Congenital Myopathy 22B, Severe Fetal
Hepatomegaly, Scapular winging, Hip contracture, Tapered toe, Shoulder flexion contracture, Short... OMIM:620369
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
2Q31.1 Microdeletion Syndrome
Short neck, Abnormal tibia morphology, Coloboma, Short palm, Clinodactyly of the 5th finger, Atri... ORPHA:251014
Ritscher-Schinzel Syndrome 2
Prominent fingertip pads, Syndactyly, Ventricular septal defect, Broad hallux, Overlapping toe, C... OMIM:300963
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Broad hallux, Ventricular septal defect, Short neck, Clinodactyly of the 2nd toe, Coxa valga, Cry... OMIM:620073
Keipert Syndrome
Broad hallux, Sensorineural hearing impairment, Broad distal phalanx of finger, Camptodactyly, Lo... OMIM:301026
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Optic atrophy, Renal hypoplasia, Growth dela... OMIM:617595
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Brachydactyly, Optic atrophy, Short distal phalanx of finger ORPHA:2787
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Short metacarpal, Ventricular septal defect, Short stature, Metaphyseal chondrodys... ORPHA:166035
Erythrokeratodermia Variabilis
Cataract, Corneal opacity, Short stature, Hearing impairment, Tapered finger, Patchy palmoplantar... ORPHA:317
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, Short stature, Tapere... ORPHA:488642
Santos Syndrome
Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu... OMIM:613005
Metaphyseal Acroscyphodysplasia
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Severe short stature, ... ORPHA:1240
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Ectopic kidney, Anteverted ears, Thickened helices, Vesicoureteral reflux, Micropenis, Cryptorchi... OMIM:617641
Dworschak-Punetha Neurodevelopmental Syndrome
Dilation of Virchow-Robin spaces, Optic disc hypoplasia, Short neck, Cupped ear, Unilateral renal... OMIM:619955
Otospondylomegaepiphyseal Dysplasia
Short neck, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone morphology, Glossop... ORPHA:1427
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Attached earlobe, Short stature, Short neck, Patchy atrophy of the retinal pigment epithelium, Ro... ORPHA:436245
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Wide nose, Short femur, Rhizomelia, Sandal gap, Retinal detachment, Abnormal pinna... OMIM:607143
Smith-Magenis Syndrome
Retinal detachment, Toe syndactyly, Short stature, Delayed eruption of primary teeth, Renal hypop... ORPHA:819
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Corneal opacity, Short stature, Unilateral renal agenesis, Abnormal stomach ... ORPHA:281090
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Epispadias, Preaxial polydactyly, Aplasia of the epiglottis, Anteriorly ... OMIM:615948
Rubinstein-Taybi Syndrome 2
Syndactyly, Hyperactivity, Broad hallux, Intestinal malrotation, Posteriorly rotated ears, Short ... OMIM:613684
Robinow Syndrome, Autosomal Recessive 1
Short neck, Micrognathia, Nephrocalcinosis, Clitoral hypoplasia, Short palm, Micropenis, Duplicat... OMIM:268310
Primary Sclerosing Cholangitis
Decreased circulating vitamin E concentration, Reduced circulating vitamin A concentration, Pleur... ORPHA:171
Hypertension And Brachydactyly Syndrome
Short metacarpal, Short stature, Cone-shaped epiphysis, Hypertension, Short phalanx of finger, Ty... OMIM:112410
Campomelia, Cumming Type
Hepatomegaly, Bowing of the long bones, Multicystic kidney dysplasia, Micromelia, Pancreatic cyst... ORPHA:1318
Tetrasomy 9P
Short neck, Micrognathia, Biliary atresia, High palate, Clinodactyly of the 5th finger, Micropeni... ORPHA:3310
Pagod Syndrome
Encephalocele, Multicystic kidney dysplasia, Spina bifida, Sudden cardiac death, Abnormality of t... ORPHA:991
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Posteriorly rotated ears, Single transverse palmar crease, Hearing impairment, Short stature, Gro... OMIM:613604
Intellectual Developmental Disorder, Autosomal Dominant 59
Short stature, Protruding ear, Short foot, Low-set ears, Short palm, Mild short stature, Self-mut... OMIM:618522
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Ventricular septal defect, Hydrocephalus, Large earlobe, Polydactyly, Microphthalmia,... OMIM:602501
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Posteriorly rotated ears, Anophthalmia, H... ORPHA:264200
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Abnormal renal corticomedullary differentiation, Pulmonary hypoplasia, Hearing impa... OMIM:616733
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Maternal diabetes, Abnormality of t... ORPHA:1570
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Abnormal repetitive mannerisms, Short stature, Dysphagia OMIM:617862
Chromosome 17Q12 Deletion Syndrome
Pica, Renal cyst, Protruding ear, High palate, Short palm, Long toe, Multicystic kidney dysplasia... OMIM:614527
Norrie Disease
Sclerocornea, Abnormal pupil morphology, Protruding ear, Hypoplasia of the iris, Uterine rupture,... ORPHA:649
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Hepatomegaly, Hearing impairment, Splenomegaly, Sensorineural hearing ... OMIM:616354
Achondrogenesis Type 1B
Thickened nuchal skin fold, Anteverted nares, Micromelia, Short neck, Micrognathia, Short foot, A... ORPHA:93298
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Short stature, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, A... ORPHA:2928
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Down-sloping shoulders, A... ORPHA:1390
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Kinsship Syndrome
Short stature, Single transverse palmar crease, Short neck, Coxa valga, Abnormal repetitive manne... OMIM:619297
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Redundant neck skin, Proximal femoral metaphyseal irregularity, Subretin... ORPHA:397715
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Sheldon-Hall Syndrome
Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Shor... ORPHA:1147
Fibular Hemimelia
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Abnormal anterio... ORPHA:93323
Peters Plus Syndrome
Ureteral duplication, Micromelia, Short neck, Peters anomaly, Bicuspid pulmonary valve, Microcorn... ORPHA:709
Hepatoportal Sclerosis
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... ORPHA:64743
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, First degree atrioventricular block, Atrioventricular block, Trip... ORPHA:392
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Posteriorly rotated ears, Postaxial polydactyly, Mornin... OMIM:614424
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Sandal gap, Hypospadias, Abnormal pinna morphology, Aggressive behavior, Short sta... OMIM:300354
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Maternal diabetes, Missing ribs, Ectopic kidney, Crypt... ORPHA:3027
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Panacinar emphysema, Bronc... OMIM:613490
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Axial Mesodermal Dysplasia Spectrum
Short neck, Micrognathia, Abnormality of the spleen, Missing ribs, Anorectal anomaly, Hydrocephal... ORPHA:1834
Triphalangeal Thumbs With Brachyectrodactyly
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly OMIM:190680
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Micrognathia, Ectopic kidney, Anotia, Limbal dermoid, Cond... OMIM:164210
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Intellectual Developmental Disorder, Autosomal Recessive 41
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Self-injurious behavior, High palate, Clinodacty... OMIM:615637
Vitamin D-Dependent Rickets, Type 3
Low serum calcitriol, Decreased circulating calcifediol concentration, Growth delay OMIM:619073
Achondrogenesis Type 1A
Thickened nuchal skin fold, Anteverted nares, Micromelia, Short neck, Micrognathia, Short foot, A... ORPHA:93299
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cataract, Short stature, Cryptorchidism, Short toe, Sensorin... ORPHA:3085
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome, Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydac... OMIM:140450
Joubert Syndrome 15
Retinal dystrophy, Preaxial polydactyly, Exencephaly, Coloboma, Nephronophthisis, Micropenis, Ret... OMIM:614464
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... ORPHA:83461
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Postaxial hand polydactyly, Abnormal m... ORPHA:2075
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Low levels of vitamin B1, Severe conduc... ORPHA:90646
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly, Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enla... OMIM:616028
Phakomatosis Pigmentokeratotica
Spina bifida, Raynaud phenomenon, Cryptorchidism, Renal transitional cell carcinoma, Unilateral r... ORPHA:2874
Renpenning Syndrome 1
Protruding ear, Coloboma, High palate, Clinodactyly of the 5th finger, Atrial septal defect, Hypo... OMIM:309500
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Hypoplasia of the ulna, Sho... OMIM:271700
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Cataract, Depressed nasal bridge, Camptodactyly of finger, Mic... ORPHA:2635
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Retinal pigmen... OMIM:617102
Acrocallosal Syndrome
Coloboma, High palate, Clinodactyly of the 5th finger, Micropenis, Bifid uvula, Hypopigmentation ... OMIM:200990
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Mitral valve prolapse, Protruding ear, Abnorm... ORPHA:137834
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia, Splenomegaly, Sensorineural hearing impairm... OMIM:615636
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Syndactyly, Short stature, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous ... OMIM:600384
19P13.12 Microdeletion Syndrome
Short neck, Short palm, Conductive hearing impairment, Clinodactyly of the 5th finger, Atrial sep... ORPHA:254346
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Intestinal malrotation, Micrognathia, Aqueductal stenosi... ORPHA:3035
Microcephaly-Capillary Malformation Syndrome
Brachydactyly, Ventricular septal defect, Short stature, Hearing impairment, Optic atrophy, Vesic... OMIM:614261
Genitopatellar Syndrome
Small scrotum, Congenital hip dislocation, Hypoplastic ischia, Prominent nose, Micrognathia, Ante... OMIM:606170
Renal Hypoplasia, Bilateral
Proteinuria, Short stature, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, R... ORPHA:97362
Coffin-Lowry Syndrome
Protruding ear, Abnormal tricuspid valve morphology, High palate, Advanced eruption of teeth, Sho... ORPHA:192
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Micropenis, Tricuspid regurgitation, Hamartoma of tongue, Polysyndactyly of hal... OMIM:263520
Abruzzo-Erickson Syndrome
Hypospadias, Short stature, Cleft palate, Protruding ear, Coloboma, Radioulnar synostosis, Macrot... OMIM:302905
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Stapes ankylosis, Short stature, Single transverse palmar crease, Intestinal malrotat... OMIM:614701
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Autosomal Recessive Polycystic Kidney Disease
Decreased circulating vitamin E concentration, Reduced circulating vitamin A concentration, Low-s... ORPHA:731
Microphthalmia, Lenz Type
Abnormal shoulder morphology, Microcornea, Chorioretinal coloboma, Clinodactyly of the 5th finger... ORPHA:568
Acromicric Dysplasia
Short metacarpal, Severe short stature, Small hand, Abnormal femur morphology, Abnormal epiphysis... ORPHA:969
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Hypospadias, Abnormal tibia morphology, Split hand, Anencephal... ORPHA:1335
Kleefstra Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Renal cyst, Gastroesophageal reflux, Thickened helice... ORPHA:261494
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Disproportionate short stature, Brachydactyly, Acromesomelia ORPHA:40
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Ureteral stenosis, Micrognathia, Pneumothorax, Cleft palate, Pa... ORPHA:2257
Ulbright-Hodes Syndrome
Maternal diabetes, Short neck, Micrognathia, High palate, Phocomelia, Abnormal penis morphology, ... ORPHA:3404
Symphalangism, Distal
Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin creases over affecte... OMIM:185700
Imerslund-Grasbeck Syndrome 1
Malabsorption of Vitamin B12, Vitamin B12 deficiency, Abnormal blood folate concentration OMIM:261100
Coffin-Siris Syndrome 7
Hyperactivity, Ventricular septal defect, Bicuspid aortic valve, Hearing impairment, Posteriorly ... OMIM:618027
Nicolaides-Baraitser Syndrome
Short palm, Severe short stature, Sandal gap, High, narrow palate, Cryptorchidism, Abnormal finge... ORPHA:3051
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Rectal prolapse, Protruding ear, H... ORPHA:235
Achondrogenesis
Thickened nuchal skin fold, Anteverted nares, Micromelia, Short neck, Micrognathia, Aplasia/Hypop... ORPHA:932
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Short stature, Proximal placement of thumb, Abnormal thumb morphology, Sensori... ORPHA:1825
Opitz-Kaveggia Syndrome
Single transverse palmar crease, Short neck, Anteriorly placed anus, Prominent fingertip pads, Si... OMIM:305450
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Severe short stature, Cataract, Abnormal epiphysis morphology, ... ORPHA:2643
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Anteverted nares... ORPHA:791
Osteogenesis Imperfecta
Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Femoral bowing, A... ORPHA:666
Fetal Akinesia Deformation Sequence 1
Short neck, Micrognathia, High, narrow palate, High palate, Wrist flexion contracture, Elbow anky... OMIM:208150
Cenani-Lenz Syndrome
Micromelia, High, narrow palate, Protruding ear, Foot oligodactyly, Hypothyroidism, Synostosis of... ORPHA:3258
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Intestinal malrotation, Short statu... ORPHA:457193
Fontaine Progeroid Syndrome
Small scrotum, Micrognathia, High, narrow palate, Anteriorly placed anus, Gastroesophageal reflux... OMIM:612289
Galloway-Mowat Syndrome 6
Proteinuria, Decreased response to growth hormone stimulation test, Short stature, Growth delay, ... OMIM:618347
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Uplifted earlobe, Palmoplantar hyperkeratosis, Webbed neck, Chorioretinal coloboma, Clinodactyly ... OMIM:280000
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, Narrow palate, Brachydactyly OMIM:617169
2q37 monosomy
Brachydactyly DECIPHER:44
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... ORPHA:457395
Cutis Laxa, Autosomal Recessive, Type Iie
Syndactyly, Short stature, Hearing impairment, Genu varum, Hip dislocation, Deep palmar crease, H... OMIM:619451
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Enuresis, Self-injurious behavior, Compulsive behaviors, Attention deficit h... OMIM:613670
Radial Hemimelia
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... ORPHA:93321
Neurooculocardiogenitourinary Syndrome
Redundant neck skin, Ventricular septal defect, Tricuspid regurgitation, Cardiomegaly, Bilateral ... OMIM:618652
Monosomy 18P
Short stature, Short neck, Cleft palate, Low posterior hairline, Protruding ear, Abnormal antihel... ORPHA:1598
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Posteriorly rotated ears, Micrognathia, Cryptorchidism, Abnormal lung lobation, Abnormal femur mo... ORPHA:2063
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Hyperactivity, Hypospadias, Cryptorchidism, Short metatarsal, Advanced ossifica... OMIM:614613
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Abnorma... ORPHA:429
49,Xxxxy Syndrome
Hypoplasia of penis, Small scrotum, Short neck, Pulmonary embolism, Depressed nasal ridge, Gastro... ORPHA:96264
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Recurrent respiratory infections, Postaxial polydactyly, Cryptorchidism, Nephrocalcinosis, Short ... OMIM:615633
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Patent ductus arteriosus, Astigmatism, Abnormal metacarpal morphology, Conductive h... ORPHA:2095
Intellectual Developmental Disorder, Autosomal Recessive 39
Hallux valgus, Hyperactivity, Short stature, Aggressive behavior, Anteverted ears, Macrotia, Abno... OMIM:615541
Charlie M Syndrome
Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Macrotia, Bra... ORPHA:1406
Agnathia-Otocephaly Complex
Wide nose, Micrognathia, Aglossia, Cleft palate, Pulmonary hypoplasia, Low-set ears, Holoprosence... OMIM:202650
Down Syndrome
Redundant neck skin, Single transverse palmar crease, Short palm, Hypoplastic iliac wing, Atrial ... OMIM:190685
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Hypospadias, Postnatal growth retardation, Cryptorchidism, Cleft palate, Short 5th fi... ORPHA:397590
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms, Optic atrophy OMIM:617830
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Abnormal epiphysis morphology of the phalanges of the hand, Rhegmatogenous retinal detachment, La... OMIM:619248
Dyrk1A-Related Intellectual Disability Syndrome
Anterior pituitary hypoplasia, Renal cyst, Protruding ear, Gastroesophageal reflux, Clinodactyly ... ORPHA:464306
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Sandal gap, Single transverse palmar crease, Adrenal hypoplasia, Micrognathia, ... OMIM:613177
Joubert Syndrome 16
Encephalocele, Retinal dystrophy, Renal cyst, Coloboma, Polydactyly, Nephronophthisis OMIM:614465
Lujan-Fryns Syndrome
Macroorchidism, Arachnodactyly, Camptodactyly of finger, Protruding ear, High palate, Low-set ear... ORPHA:776
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Short stature, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly, ... ORPHA:166024
Primary Intestinal Lymphangiectasia
Edema, Pericardial effusion, Low levels of vitamin D, Abnormality of vitamin metabolism, Pleural ... ORPHA:90362
Cardiospondylocarpofacial Syndrome
Severe short stature, High, narrow palate, Mitral valve prolapse, Mitral regurgitation, Short pal... ORPHA:3238
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Coloboma, Gastroesophageal reflux, Compulsive behaviors, Vesicoureteral re... ORPHA:353281
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Postnatal growth retardation, Metaphyseal ... OMIM:608940
Neurodegeneration And Seizures Due To Copper Transport Defect
Thickened nuchal skin fold, Short femur, Tricuspid regurgitation, Pneumothorax, Glandular hypospa... OMIM:620306
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Hepatic fibrosis, Syndactyly, Short stature, Hamartoma of tongue, ... OMIM:311200
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Pericardial lymphangiectasia, Pulmonary lymphangiectasia, Growth delay, Microtia, Cam... OMIM:616006
Marfan Syndrome
Bicuspid aortic valve, Equinus calcaneus, Hypoplasia of the iris, High palate, Emphysema, Tricusp... OMIM:154700
Microphthalmia, Syndromic 6
Anophthalmia, Single transverse palmar crease, Uplifted earlobe, Sclerocornea, Protruding ear, Mi... OMIM:607932
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness, Recurrent urinary tract infections, Hypospadias, Posteriorly rotated ears, Tape... OMIM:619293
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Maternal Phenylketonuria
Hyperactivity, Ventricular septal defect, Bifid distal phalanx of the thumb, Esophageal atresia, ... ORPHA:2209
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Corneal opacity, Patent ductus arteriosus, Squared iliac bo... OMIM:618961
Renal Agenesis, Bilateral
Depressed nasal ridge, Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abnormal intestine m... ORPHA:1848
Prune Belly Syndrome
Recurrent respiratory infections, Multicystic kidney dysplasia, Congenital hip dislocation, Renal... ORPHA:2970
Carey-Fineman-Ziter Syndrome 2
Anteverted nares, Posteriorly rotated ears, Underdeveloped nasal alae, Micrognathia, High, narrow... OMIM:619941
Adnp Syndrome
Single transverse palmar crease, Urinary incontinence, Oral-pharyngeal dysphagia, Abnormal finger... ORPHA:404448
Penile Agenesis
Fetal pyelectasis, Bilateral renal hypoplasia, Anorectal anomaly, Absent penis, Atrial septal def... ORPHA:49
Biemond Syndrome Type 2
Short stature, Hypospadias, Hydrocephalus, Preaxial polydactyly, Coloboma, Delayed puberty, Micro... ORPHA:141333
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Orofaciodigital Syndrome Type 4
Micromelia, Micrognathia, High, narrow palate, Depressed nasal ridge, Conductive hearing impairme... ORPHA:2753
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Prominent antitragus, Brachydactyly OMIM:618879
Bohring-Opitz Syndrome
Gastroesophageal reflux, Abnormal optic nerve morphology, Vesicoureteral reflux, Atrial septal de... OMIM:605039
Acrodysostosis 1 With Or Without Hormone Resistance
Neonatal epiphyseal stippling, Short metatarsal, Elevated circulating thyroid-stimulating hormone... OMIM:101800
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Bilateral c... OMIM:305400
Zellweger Syndrome
High palate, Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Abnormal chorioretinal morp... ORPHA:912
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Redundant neck skin, Hypospadias, Abnormal pinna morphology, Proximal placement of th... OMIM:217980
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608636
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Broad hallux, Hypospadias, Hearing impairment, Posteriorly rotated ears, Postna... ORPHA:439822
Schneckenbecken Dysplasia
Hypoplastic scapulae, Dumbbell-shaped long bone, Short neck, Snail-like ilia, Flat acetabular roo... OMIM:269250
Polyrrhinia
Abnormal external nose morphology, Supernumerary naris, Abnormal nasal bone morphology ORPHA:141091
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Short neck, Abnormal tricuspid valve morphology, Clinodactyly of the 5th fin... ORPHA:1507
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Short metacarpal, Cataract, Short stature, Short neck, Short metatarsa... OMIM:612463
4Q21 Microdeletion Syndrome
Toe syndactyly, Micromelia, Short neck, Small hand, Short foot, Self-injurious behavior, Growth d... ORPHA:238750
Oculodentodigital Dysplasia
Microcornea, Conductive hearing impairment, Clinodactyly of the 5th finger, Finger syndactyly, Sh... ORPHA:2710
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the neck, Abnormality ... ORPHA:1606
Neuroocular Syndrome
Hyperextensibility of the finger joints, Lens coloboma, Microcornea, Clinodactyly of the 5th fing... OMIM:619539
20P13 Microdeletion Syndrome
Finger syndactyly, Posteriorly rotated ears, Abnormal pinna morphology, Microcornea, Polydactyly,... ORPHA:313781
LĆ©ri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Depressed nasal ridge, Nephrolithiasis, Abnormal fibula morphology, ... ORPHA:1837
Kabuki Syndrome 2
Natal tooth, Prominent fingertip pads, Short stature, Hearing impairment, Postnatal growth retard... OMIM:300867
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... OMIM:112910
Camurati-Engelmann Disease
Abnormal tibia morphology, Abnormal femur morphology, Cortical thickening of long bone diaphyses,... ORPHA:1328
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Short neck,... ORPHA:177907
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachydactyly, Severe short stature, Abnormal thumb morphology, Abnormal metacarpal morphology, A... ORPHA:2511
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Micrognathia, Interstitial emphysema, Bronchiectasis, Optic atrophy, Inflammation of the large in... OMIM:619708
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms OMIM:606053
Okamoto Syndrome
Redundant neck skin, Urinary incontinence, Primum atrial septal defect, Gastroesophageal reflux, ... ORPHA:2729
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Abnormal tricuspid valve morphology, Conductive hearing impairment, ... ORPHA:580
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hepatomegaly, Hyperactivity, Short stature, Persistence of primary teeth, Aggressive behavior, Se... OMIM:618342
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Thickened nuchal skin fold, Hypoplasia of penis, Bilateral single transverse palmar creases, Camp... ORPHA:2083
Exstrophy-Epispadias Complex
Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd... ORPHA:322
Charge Syndrome
Anophthalmia, Aqueductal stenosis, Abnormal tibia morphology, Hypoplasia of the semicircular cana... ORPHA:138
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Short neck, Anteriorly placed anus, Pulmonary artery atresia, Vesicouret... OMIM:616894
Waardenburg Syndrome, Type 3
Scapular winging, Aganglionic megacolon, Camptodactyly of finger, Sensorineural hearing impairmen... OMIM:148820
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Renal cyst, Protruding ear, Gastroesophageal reflux, Micropenis, Pelvic kidney, Abnormal repetiti... ORPHA:464311
Filippi Syndrome
Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndactyly, Cryptorchidism, P... OMIM:272440
Feingold Syndrome Type 1
Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Clinodactyly of the 5th finger, Co... ORPHA:391641
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Ectopic kidney, Rectal prolapse, Cutaneous finger syndactyly, ... OMIM:235510
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... OMIM:186570
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Pancreatic fibrosis, Depressed nasal bridge, Postaxial polydactyly, Preaxial polydact... OMIM:615503
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, High palat... ORPHA:570
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Bicuspid aortic valve, Hypospadias, Ventricular septal defect, Patent ductus arter... OMIM:617751
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Intestinal mal... OMIM:617866
Pelviscapular Dysplasia
Congenital hip dislocation, Redundant neck skin, Short femur, Hypoplastic scapulae, Short neck, H... ORPHA:93333
Congenital Disorder Of Glycosylation, Type Iic
Short stature, Pneumonia, Short foot, Compulsive behaviors, Bronchiolitis, Brachydactyly OMIM:266265
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Retinal dystrophy, Intestinal malrotation, Cleft soft palate, Optic nerve hypoplasia, Short statu... OMIM:619321
Transketolase Deficiency
Increased level of ribose in urine, Hepatomegaly, Cataract, Ventricular septal defect, Abnormal c... ORPHA:488618
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Decreased testicular size, Recurrent respiratory infections, Hyperactivity, Restlessness, Short s... OMIM:300534
Floating-Harbor Syndrome
Short neck, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Gastroesophageal reflux, Compul... ORPHA:2044
Restrictive Dermopathy 1
Ureteral duplication, Adrenal hypoplasia, Micrognathia, Overtubulated long bones, Neonatal death,... OMIM:275210
Acrorenal-Mandibular Syndrome
Micrognathia, High palate, Hypoplasia of the ulna, Split hand, Split foot, Bicornuate uterus, Low... OMIM:200980
Renal Hypodysplasia/Aplasia 1
Proteinuria, Primary amenorrhea, Hypertension, Bicornuate uterus, Pulmonary hypoplasia, Talipes e... OMIM:191830
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anteverted nares, Depressed nasal bridge, Micrognathia, Splenomegaly, Hepatosplenom... OMIM:608013
Silver-Russell Syndrome 1
Syndactyly, Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, A... OMIM:180860
Anauxetic Dysplasia 1
Hip contracture, Severe short stature, Rhizomelia, Short neck, Hypoplastic ilia, Short toe, Flare... OMIM:607095
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, High pala... ORPHA:3103
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Camptodactyly of finger, Micromelia, Elbow dislocation, Lateral humeral condyle ... ORPHA:2741
Focal Dermal Hypoplasia
Ureteral duplication, Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metata... OMIM:305600
Gapo Syndrome
Delayed eruption of teeth, Keratoconus, Anteverted nares, Depressed nasal bridge, Choanal atresia... ORPHA:2067
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bilateral single transverse palmar creases, Proximal placement of thumb,... ORPHA:1120
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Sandal gap, Hypospadias, Micrognathia, Splenomegaly, Depressed nasal ridge, ... ORPHA:1046
Down Syndrome
Thickened nuchal skin fold, Brachydactyly, Cataract, Sandal gap, Aganglionic megacolon, Short nec... ORPHA:870
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Short stature, Interphalangeal ... OMIM:151200
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,... ORPHA:957
Chondrodysplasia Punctata 1, X-Linked Recessive
Cataract, Depressed nasal bridge, Hearing impairment, Anosmia, Epiphyseal stippling, Hypogonadism... OMIM:302950
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Juberg-Hayward Syndrome
Wide nose, Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal finger mo... ORPHA:2319
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Abnormal cerebral vascular morphology, Coxa vara, Hypoplastic iliac wing, Clinodactyl... ORPHA:2637
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metacarpal, Redundant neck skin, Brachydactyly, Recurrent urinary tract infections, Short s... OMIM:617157
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... ORPHA:1263
Sclerosteosis
Finger syndactyly, Sensorineural hearing impairment, 2-3 finger syndactyly, Optic atrophy, Curved... ORPHA:3152
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Proportionate short stature, Abnormal repetitive mannerisms, Patent du... OMIM:617044
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, S... OMIM:613091
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing... ORPHA:3210
Pallister-Hall Syndrome
Ectopic kidney, Abnormal lung lobation, Gonadotropin deficiency, Holoprosencephaly, Atrial septal... ORPHA:672
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Short stature, Single transverse palmar crease, Decreased response to growth hormone stimulation ... ORPHA:457240
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Cataract, Corneal opacity, Sclerocornea, Coxa valga, Metatarsu... ORPHA:2557
Aredyld Syndrome
Low-set, posteriorly rotated ears, Hepatomegaly, Short stature, Splenomegaly, Abnormality of the ... ORPHA:1133
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Microretrognathia, Congestive heart failure, Patent ductus arteriosus, Cardiomyopathy, High palat... OMIM:616866
Acrootoocular Syndrome
Decreased palmar creases, Abnormal finger flexion crease, Decreased response to growth hormone st... ORPHA:2980
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Single transverse palmar crease, Limited elbow movement, Short neck, Proxi... OMIM:610759
2Q23.1 Microdeletion Syndrome
Hypoplasia of penis, Hyperactivity, Sandal gap, Short stature, Cryptorchidism, Polyphagia, Growth... ORPHA:228402
Andersen Cardiodysrhythmic Periodic Paralysis
Short metatarsal, High palate, Prominent U wave, Short palm, Clinodactyly of the 5th finger, Prol... OMIM:170390
Trisomy 20P
Short neck, Protruding ear, Low-set, posteriorly rotated ears, Finger syndactyly, Hypospadias, Ab... ORPHA:261318
Atelosteogenesis, Type I
Short neck, Short metatarsal, Tibial bowing, Neonatal death, Encephalocele, Short metacarpal, Rad... OMIM:108720
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Adrenal hyperplasia, High, narrow palate, Femoral bowing, Anteriorly placed anus, Abnormal ovaria... ORPHA:95699
Foxg1 Syndrome
Optic disc hypoplasia, Short stature, Severe postnatal growth retardation, Gastroesophageal reflu... ORPHA:561854
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal synostosis, Micromelia, A... ORPHA:2639
48,Xxxy Syndrome
Hypoplasia of penis, Small scrotum, Short neck, Pulmonary embolism, Depressed nasal ridge, Gastro... ORPHA:96263
Hajdu-Cheney Syndrome
Short neck, Iris coloboma, Partial absence of toe, Hepatomegaly, Hypospadias, Short stature, Pate... ORPHA:955
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Proximal placement of thumb, Absent thumb, Short thumb, Cryptorchidi... OMIM:613390
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Basel-Vanagaite-Smirin-Yosef Syndrome
Single transverse palmar crease, High, narrow palate, Microcornea, Male urethral meatus stenosis,... ORPHA:464738
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Short fourth metatarsal, Brachydactyly, Posteriorly rotated ears, Single transverse... OMIM:618143
Frontorhiny
Encephalocele, Low-set, posteriorly rotated ears, Cataract, Camptodactyly of finger, Cleft palate... ORPHA:391474
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Abnorma... ORPHA:3121
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Severe short stature, Camptodactyly of finger, Short thumb, Protruding ear, Pa... ORPHA:2251
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Abnormal repe... OMIM:239500
Alkuraya-Kucinskas Syndrome
Cataract, Overlapping toe, Posteriorly rotated ears, Pericardial effusion, Hydrocephalus, Cutaneo... OMIM:617822
Alg8-Cdg
Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Cataract, Optic atrophy... ORPHA:79325
Intellectual Developmental Disorder, Autosomal Recessive 58
Short stature, Aggressive behavior, Pica, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Holoprosencephaly 1
Short stature, Alobar holoprosencephaly, Facial cleft, Micropenis, Single ventricle, Microphthalm... OMIM:236100
Zimmermann-Laband Syndrome 2
Underdeveloped nasal alae, Bifid nasal tip, Short neck, Sensorineural hearing impairment, Macrogl... OMIM:616455
Hypomelanosis Of Ito
Syndactyly, Cataract, Hand polydactyly, Radial deviation of finger, Clinodactyly, Iris coloboma OMIM:300337
22Q11.2 Duplication Syndrome
Ventricular septal defect, Urethral stenosis, Cleft palate, Anterior creases of earlobe, Growth d... ORPHA:1727
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Grange Syndrome
Aortic regurgitation, Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial s... ORPHA:79094
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Short pha... OMIM:177170
Chops Syndrome
Cataract, Ventricular septal defect, Thickened helices, Hearing impairment, Short stature, High, ... OMIM:616368
Rapadilino Syndrome
Slender nose, Aplasia/Hypoplasia of the patella, Absent thumb, High, narrow palate, Cleft palate,... OMIM:266280
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Cataract, Spina bifida, Preaxial polydactyly, Spina bifida occ... ORPHA:64754
Orofaciodigital Syndrome Type 6
Bilateral cryptorchidism, Preaxial polydactyly, Finger clinodactyly, Lobulated tongue, High palat... ORPHA:2754
Lowry-Maclean Syndrome
Hypospadias, Single transverse palmar crease, Delayed eruption of primary teeth, Corneal opacity,... ORPHA:2409
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Abnormal repetitive mannerisms, Cataract, Gastroesophageal reflux OMIM:617393
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... OMIM:147750
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hydroureter, Tapered finger, Postnatal growth retardation, Pyloric stenosis, Nephrolithiasis, Ves... OMIM:617219
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Short neck, Hypertrophy of the urinary bladder, Large fleshy ears, High palate, Gastroesophageal ... ORPHA:280633
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Anteverted nares, Posteriorly rotated ears, Micrognathia, High... ORPHA:2849
Marinesco-Sjƶgren Syndrome
Short palm, Cataract, Severe short stature, Coxa valga, Avascular necrosis of the capital femoral... ORPHA:559
Sarcoidosis
Abnormal nasal mucosa morphology, Heart block, Abnormal lung morphology, Ventricular tachycardia,... ORPHA:797
Isolated Osteopoikilosis
Syndactyly, Abnormal pelvis bone morphology, Abnormality of the kidney, Abnormal pelvis bone ossi... ORPHA:166119
Alopecia-Intellectual Disability Syndrome
Brachydactyly, Short stature, Split hand, Growth delay, Macrotia, Hearing impairment ORPHA:2850
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Microtia, Congenital pyloric atresia OMIM:612138
Endocrine-Cerebroosteodysplasia
Single transverse palmar crease, Micromelia, Preaxial polydactyly, Tibial bowing, Microphallus, H... OMIM:612651
Ring Chromosome 21 Syndrome
Syndactyly, Short stature, Narrow palm, Small hand, Abnormal heart morphology, Holoprosencephaly,... ORPHA:1445
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Micropenis, Single transverse palmar crease, Brachydactyly OMIM:601224
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Optic atroph... OMIM:605282
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Cataract, Retinal dystrophy, Proximal placement of thumb, Sclero... ORPHA:139471
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Coloboma, High palate, Gastroesophageal reflux, Compulsive behaviors, Atri... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Coloboma, High palate, Gastroesophageal reflux, Compulsive behaviors, Atri... ORPHA:353277
Lymphedema-Hypoparathyroidism Syndrome
Hypoparathyroidism, Renal insufficiency, Cataract, Short stature, Pulmonary lymphangiectasia, Mit... OMIM:247410
Intellectual Developmental Disorder, Autosomal Dominant 7
Hallux valgus, Hyperactivity, Abnormal pinna morphology, Short stature, Birth length less than 3r... OMIM:614104
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Brachydactyly, Broad long bones, Short stature, Abnormal metatarsal morphology, Short neck, Crypt... ORPHA:163654
Rubinstein-Taybi Syndrome 1
Single transverse palmar crease, Premature thelarche, Prominent nose, Bilateral cryptorchidism, H... OMIM:180849
Periventricular Nodular Heterotopia 1
Syndactyly, Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Short f... OMIM:300049
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d... ORPHA:1275
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Renal cyst, Coloboma, High palate, Gastroesophageal reflux, Vesicoureteral reflux, Clinodactyly o... OMIM:616975
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Cleft hard palate, Delayed epiphy... ORPHA:166016
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Radial bowing, ... OMIM:210720
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix, Pulmonary insufficiency, Pulmonary hypoplasia, Neonatal death OMIM:245650
Cooks Syndrome
Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly ORPHA:1487
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Acrorenal Syndrome
Renal insufficiency, Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split ... ORPHA:971
Spastic Paraplegia 20, Autosomal Recessive
Ulnar deviation of the hand, Short stature, Dysphagia, Short foot, Urinary urgency, Hammertoe, Ca... OMIM:275900
Microphthalmia With Limb Anomalies
Venous insufficiency, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High pa... ORPHA:1106
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Severe short stature, Clinodactyly, Hypoplastic pubic ... OMIM:184250
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Aggressive behavior, Optic atrophy, 2-3 toe syndactyly, Narrow ... ORPHA:313892
Monosomy 13Q14
Abnormality of the gastrointestinal tract, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ca... ORPHA:1587
Craniopharyngioma
Papilledema, Enlarged pituitary gland, Abnormal nasal bone morphology, Hypogonadotropic hypogonad... ORPHA:54595
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Autosomal Recessive Spondylocostal Dysostosis
Low-set, posteriorly rotated ears, Finger syndactyly, Hypospadias, Camptodactyly of finger, Short... ORPHA:2311
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease... ORPHA:3472
Serkal Syndrome
Abnormal penis morphology, Hypospadias, Malrotation of small bowel, Sex reversal, Abnormality of ... ORPHA:139466
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Ulnar deviation of the wrist, Patent ductus arteriosus, Hydrocephalus, Annular pancre... OMIM:618162
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Hyperactivity, Short stature, Postnatal growth retardat... ORPHA:261323
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Optic disc pallor, Short stature, Short neck, Metaphyseal widening, Broad palm, Coxa vara, Flatte... OMIM:300232
Eiken Syndrome
Broad femoral neck, Persistence of primary teeth, Clinodactyly, Fibular hypoplasia, Eruption fail... OMIM:600002
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... ORPHA:968
Orofaciodigital Syndrome Viii
Syndactyly, Short stature, Cleft palate, High palate, Polydactyly, Short tibia, Recurrent aspirat... OMIM:300484
Distal Duplication 5Q
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Hypospadias, Absent thumb, Short... ORPHA:96097
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Proximal placement of thumb, Conjunctival hyperemia, Secundum atrial septal defect, Aggressive be... OMIM:619121
Pericardial And Diaphragmatic Defect
Intestinal malrotation, Patent ductus arteriosus, Pulmonary hypoplasia, Pulmonary sequestration, ... ORPHA:2847
Mohr Syndrome
Syndactyly, Short stature, Preaxial hand polydactyly, Postaxial hand polydactyly, Conductive hear... OMIM:252100
Peripheral Dysostosis
Clinodactyly of the 5th finger, Short stature, Cone-shaped epiphyses of the phalanges of the hand... ORPHA:1795
Diamond-Blackfan Anemia 7
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Growth delay,... OMIM:612562
Polysyndactyly With Cardiac Malformation
Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu... OMIM:263630
Weaver Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodact... ORPHA:3447
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Abnormality of the kidney, Single transverse palmar crease, Repetitive compulsive behavior, Recur... ORPHA:391372
Toriello-Carey Syndrome
Short neck, Anteriorly placed anus, Anotia, High palate, Thickened helices, Short stature, Crypto... ORPHA:3338
Schizophrenia 1
Partially duplicated kidney, Syndactyly, Renal agenesis, Short stature, Ectopic kidney, Protrudin... OMIM:181510
Dpagt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Arachnodactyly, Optic atrophy... ORPHA:86309
Cohen Syndrome
High, narrow palate, Clinodactyly of the 5th finger, Iris coloboma, Finger syndactyly, Chorioreti... ORPHA:193
Seckel Syndrome 1
Abnormal finger flexion crease, Single transverse palmar crease, Prominent nose, Micrognathia, Hi... OMIM:210600
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Brachydactyly, Posteriorly rotated ears, Corneal dystrophy, Short stature, Hypertension, Low-set ... OMIM:617763
Restrictive Dermopathy
Natal tooth, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the clavicles, Hypospad... ORPHA:1662
Gorlin Syndrome
Cataract, Arachnodactyly, Palmar pits, Cryptorchidism, Hydrocephalus, Abnormality of the neck, Ir... ORPHA:377
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... ORPHA:93314
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate, Self-injurious behavi... ORPHA:261272
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Spinal dysraphism ORPHA:1114
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Silver-Russell Syndrome 3
Syndactyly, Unilateral cryptorchidism, Short stature, Postnatal growth retardation, Patent ductus... OMIM:616489
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Tricuspid regurgitation, Prominent nasal bridge, Prominent nose, Tapered finger, Optic atrophy, R... OMIM:619576
Rhyns Syndrome
Renal insufficiency, Radial bowing, Short stature, Decreased response to growth hormone stimulati... OMIM:602152
N-Acetylaspartate Deficiency
Abnormal repetitive mannerisms, Self-mutilation, Short stature OMIM:614063
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Short stature, Single transverse palmar crease, Muscular ventricular septal defect, Adducted thum... OMIM:620062
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Short stature, Metaphyseal ch... OMIM:250410
Microphthalmia, Isolated 4
Microphthalmia, Coloboma, Absent testis, Postaxial polydactyly OMIM:613094
Radio-Tartaglia Syndrome
Ventricular septal defect, Hearing impairment, Tapered finger, Aggressive behavior, High, narrow ... OMIM:619312
Gracile Bone Dysplasia
Short stature, Asplenia, Hydrocephalus, Flared metaphysis, Hypoplastic spleen, Slender long bone,... OMIM:602361
Basal Cell Nevus Syndrome 1
Cataract, Ovarian fibroma, Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Hama... OMIM:109400
Orofaciodigital Syndrome Iv
Toe syndactyly, Short stature, Postaxial polydactyly, Hamartoma of tongue, Cleft palate, Lobulate... OMIM:258860
48,Xxyy Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Hypoplasia of penis, Elbow dislocati... ORPHA:10
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Short palm, Hy... OMIM:611717
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Cryptorchidism, Abnormality of the parathyroid gland, Abnor... ORPHA:3429
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Camptodactyly of finger, Abnormal pleura morphology, Short neck, Micrognathia, Aplasia/Hypoplasia... ORPHA:2570
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Short stature, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetab... OMIM:617405
Kbg Syndrome
Short stature, Single transverse palmar crease, Short neck, Cryptorchidism, Congenital malformati... ORPHA:2332
Hypochondroplasia
Brachydactyly, Flared metaphysis, Short long bone, Short femoral neck, Disproportionate short-lim... OMIM:146000
Brachydactylous Dwarfism, Mseleni Type
Severe short stature, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Brachytel... ORPHA:2619
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... OMIM:101200
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Short thumb, Broad hallux, Short stature, Brachydactyly OMIM:165800
Cleidocranial Dysplasia
High, narrow palate, Coxa vara, Glossoptosis, Hypoplastic inferior ilia, Clinodactyly of the 5th ... ORPHA:1452
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short stature, Short metatarsal, Atrial septal defect, Short 4th metacarpal, Type E brachydactyly OMIM:113301
Distal Deletion 12Q
Single transverse palmar crease, Short neck, Ectopic kidney, High, narrow palate, Biliary atresia... ORPHA:96149
Arterial Tortuosity Syndrome
Myocardial infarction, Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th finger, Kerato... ORPHA:3342
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal diaphysis morphology, Clinodactyly of the ... ORPHA:1515
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Arachnodactyly, Overfolded helix, Large fleshy ears, Low-set ears, Clinodactyly, Abno... OMIM:619092
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Low serum calcitriol, Decreased circulating calcifediol concentration,... OMIM:264700
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Hypospadias, Cleft palate, High palate, Attention deficit ... OMIM:619736
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Abnormal repetitive mannerisms, Single transverse palmar crease OMIM:617820
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Overlapping toe, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ... OMIM:614262
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Elevated hepatic transaminase, Cataract, Hypospadias, Short stature, Su... ORPHA:2959
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Peters anomaly, Atrial septal defect, Microphthalmia, Broa... OMIM:614526
Potocki-Lupski Syndrome
Hyperactivity, Short stature, Oral-pharyngeal dysphagia, Abnormal repetitive mannerisms, Abnormal... OMIM:610883
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, High palate, Astigmatism, Pulmonic stenosis, Low-set ea... OMIM:618205
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Congenital hip dislocation, ... ORPHA:217346
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary atresia, Dextrot... OMIM:306955
Arboleda-Tham Syndrome
Secundum atrial septal defect, Anteverted ears, Bilateral cryptorchidism, Gastroesophageal reflux... OMIM:616268
Achondroplasia
Rhizomelia, Hearing impairment, Hip joint hypermobility, Bowing of the legs, Short proximal phala... ORPHA:15
Hirschsprung Disease-Type D Brachydactyly Syndrome
Short phalanx of hallux, Short distal phalanx of the thumb, Aganglionic megacolon, Brachydactyly ORPHA:2150
Tetraamelia Syndrome 1
Cataract, Hypoplasia of the fallopian tube, Choanal atresia, Absent external genitalia, Asplenia,... OMIM:273395
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Ovotestis, Pulmonary artery stenosis, Cleft palate, Sex reversal, Bilateral lung age... OMIM:611812
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Congenital hip dislocation, Absent nipple, Cubitus valgus, Patent ductus arteriosus, ... OMIM:104350
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Bowing of the legs, Subperiosteal bone resorption, High serum calcitri... OMIM:277440
Trichorhinophalangeal Syndrome, Type Iii
Short metacarpal, Short stature, Avascular necrosis of the capital femoral epiphysis, Short metat... OMIM:190351
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Tachycardia, Abnormal heart morphology, Pigmentary retinopathy, Aspiration pne... ORPHA:79264
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Hypospadias, Oral-pharyngeal dysphagia, Postnatal growth retardation, Cleft palate, Short long bo... OMIM:619184
Bardet-Biedl Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys... ORPHA:110
Houge-Janssens Syndrome 3
Single transverse palmar crease, Muscular ventricular septal defect, Self-injurious behavior, Hig... OMIM:618354
Koolen-De Vries Syndrome
Bicuspid aortic valve, Anteverted ears, High palate, Prominent fingertip pads, Vesicoureteral ref... OMIM:610443
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Ambiguous genitalia, Tachycardia, Unilateral cryptorchidism, Int... OMIM:618280
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Arachnodactyly, Hypospadias, Aplasia/Hypoplasia of the lungs, A... ORPHA:1548
Anauxetic Dysplasia 3
Recurrent respiratory infections, Short metacarpal, Severe short stature, Hip subluxation, Square... OMIM:618853
Meckel Syndrome
Ureteral duplication, Anophthalmia, Sclerocornea, Micrognathia, Asplenia, Depressed nasal ridge, ... ORPHA:564
Obesity Due To Sim1 Deficiency
Low levels of vitamin B1, Short stature ORPHA:369873
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial ... OMIM:619534
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Retinal detachment, Brachydactyly, Short stature, Short neck, Abnormal femoral epiphysis morpholo... ORPHA:3218
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Fountain Syndrome
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Short stature, Spina ... ORPHA:3219
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response to growth h... ORPHA:96179
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Short stature, Bilateral microphthalmos, Unilateral microphthalmos, Horses... OMIM:619318
Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Hypospadias, Posteriorly rotated ears, Short statu... OMIM:300712
Alagille Syndrome
Keratoconus, Hypoplasia of the ulna, Hepatomegaly, Telangiectasia of the skin, Corneal dystrophy,... ORPHA:52
Chromosome 5P13 Duplication Syndrome
Posteriorly rotated ears, Single transverse palmar crease, Long fingers, Low posterior hairline, ... OMIM:613174
Lopes-Maciel-Rodan Syndrome
Small hand, Dysphagia, Short foot, Agitation, Bruxism, Abnormal repetitive mannerisms OMIM:617435
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Gastroesophageal reflux, Micropenis, Abnormal repetitive mannerisms, Hypospadias, Tapered finger,... OMIM:301040
Floating-Harbor Syndrome
Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Clin... OMIM:136140
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc... OMIM:601005
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Posteriorly rotated ears, Tapered finger, Aggressive behavior, Submucous cleft hard ... OMIM:619680
Brachydactyly, Type E2
Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Brachydactyly OMIM:613382
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, Single transverse palmar crease, High, narrow palate, Protruding ear, Tubu... OMIM:218330
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Syndactyly, Narrow joint spaces of the elbow, Hypospadias, Decreased response to growth hormone s... ORPHA:96182
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Brachydactyly, Short stature, Lower limb undergrowth, Bowing of the legs OMIM:612847
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Hydrocephalus, Coloboma, Hypertension... OMIM:619111
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Congenital hip dislocation, Bicuspid aortic valve, Ventricular s... ORPHA:457279
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly, Abnormal limb bone morphology, Aplasia/Hypoplasia of the lungs, Limb ... ORPHA:2204
Pallister-Killian Syndrome
Small scrotum, Congenital hip dislocation, Single transverse palmar crease, Short neck, Micrognat... OMIM:601803
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Gastrointestinal dysm... ORPHA:363705
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Sclerocornea, Micrognathia, Megalocornea, Iris coloboma, Low-set, poster... ORPHA:280
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Retinal detachment, Cataract, Optic nerve hypoplasia, Hydrocephalus, Opt... ORPHA:370959
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Attention deficit hyperactivity disorder, Tapered finger OMIM:618725
Otodental Dysplasia
Delayed eruption of teeth, Coloboma, Sensorineural hearing impairment, Anteverted nares OMIM:166750
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Short neck, High palate, Gastroesophageal reflux, Vesicoureteral reflux, Micropenis, Paroxysmal b... OMIM:309580
Cystinosis
Renal insufficiency, Proteinuria, Corneal opacity, Portal hypertension, Malabsorption, Short stat... ORPHA:213
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Prominent fingertip pads, Arachnodactyly, Short stature, Aggressive behavior, Mitral valve prolap... OMIM:300986
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial... ORPHA:1553
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Depressed nasal bridge, Duplication of thumb phalanx, Tarsal synost... ORPHA:2756
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Short metacarpal, Cataract, Depressed nasal bridge, Short neck, Short ... OMIM:103580
Leri Pleonosteosis
Severe short stature, Camptodactyly of finger, Elbow dislocation, Abnormal finger morphology, Abn... ORPHA:2900
Acrofrontofacionasal Dysostosis 2
Thickened nuchal skin fold, Syndactyly, Redundant neck skin, Broad hallux, Hypospadias, Posterior... OMIM:239710
Pitt-Hopkins Syndrome
Short fourth metatarsal, Single transverse palmar crease, Short neck, Gastroesophageal reflux, Sh... OMIM:610954
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Short neck, High, narrow palate, Gastroesophageal reflux, Thickened helices, Prominent fingertip ... OMIM:619950
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Short neck, Cryptorchidism, Coloboma, Macroglossia, Transposition of the great arteries, Talipes ... OMIM:616789
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Single transverse palmar crease, 2-3 toe syndactyly, Lobulated tongue, Low-set ears, Clinodactyly... OMIM:613443
Congenital Tracheal Stenosis
Meckel diverticulum, Ventricular septal defect, Abnormality of the kidney, Abnormal stomach morph... ORPHA:141127
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Thoracic aortic aneurysm, Ileal atresia, Patent ductus arteriosus, Peritonitis, Sensorine... OMIM:619351
Trisomy 8Q
Low-set, posteriorly rotated ears, Hypoplasia of penis, Camptodactyly of finger, Short neck, Cryp... ORPHA:1752
Marden-Walker Syndrome
Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, Arachnodactyly,... ORPHA:2461
Cranioectodermal Dysplasia 2
Cholangitis, Short neck, Renal cyst, High palate, Atrial septal defect, Patent foramen ovale, Sim... OMIM:613610
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Recurrent respiratory infections, Hypospadias, Cryptorchidism, 2-3 toe cutaneous syndactyly, Repe... OMIM:300260
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Macrotia, Palmoplantar keratoderma, Cardiomegaly OMIM:613576
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Mixed hearing impairment, Short stature, Cleft soft palate, Hearing impairment, Cr... OMIM:616331
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Abnormal mitral valve morphology, Short stature, Symphalangism affecting the phalanges of the han... ORPHA:1292
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... OMIM:187601
7Q11.23 Microduplication Syndrome
Single transverse palmar crease, Short neck, Abnormal optic disc morphology, High palate, Atrial ... ORPHA:96121
Spondyloepiphyseal Dysplasia, Nishimura Type
Recurrent respiratory infections, Delayed epiphyseal ossification, Small hand, Cone-shaped epiphy... OMIM:618618
Christianson Syndrome
Gastroesophageal reflux, Inappropriate laughter, Dysphagia, Macrotia, Abnormal repetitive manneri... ORPHA:85278
Ramos-Arroyo Syndrome
Aganglionic megacolon, Anteverted nares, Depressed nasal bridge, Keratitis, Absent retinal pigmen... ORPHA:1051
Atelosteogenesis Type Iii
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ... ORPHA:56305
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Hypertension, ... OMIM:602088
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Aortic regurgitation, Clitoral hypertrophy, Toe syndactyly, Retinal dystrophy, Renal insufficienc... ORPHA:140952
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Intestinal pseud... ORPHA:73246
Brunet-Wagner Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Self-injurious behavior, Optic atrophy OMIM:619690
Brachydactyly Type E
Short metacarpal, Short stature, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short me... ORPHA:93387
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Low-set ears, Vesicoureteral reflux, Overfolded helix, Hydronephrosis OMIM:613735
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Dextrocardia, Cryptorchidism, Astigmatism, Clinodactyly of the 5th fin... OMIM:618067
Phace Syndrome
Cataract, Optic nerve hypoplasia, Cerebral arteriovenous malformation, Sclerocornea, Lens colobom... ORPHA:42775
Meacham Syndrome
Accessory spleen, Septate vagina, Patent ductus arteriosus, Partial anomalous pulmonary venous re... OMIM:608978
Lethal Congenital Contracture Syndrome 9
Ulnar deviation of the hand, Anteverted nares, Depressed nasal bridge, Micrognathia, Antecubital ... OMIM:616503
Myhre Syndrome
Short neck, Hypoplastic iliac wing, Atrial septal defect, Short stature, Pericardial effusion, Cr... OMIM:139210
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Anterior polar cataract, Metaphyseal... OMIM:250420
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Brachydactyly, Short stature, Hip dysplasia, Hypoplastic iliac wing, Short distal phalanx of finger ORPHA:1858
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Aggressive behavior, Tapered finger, High palate, Attention deficit hy... OMIM:618825
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Brachydactyly OMIM:619692
Methylcobalamin Deficiency Type Cble
Syndactyly, Glomerulopathy, Hemolytic-uremic syndrome, Postnatal growth retardation, Hydrocephalu... ORPHA:2169
Al-Raqad Syndrome
Atrial septal defect, Sandal gap, Low-set ears, Brachydactyly OMIM:616459
Laron Syndrome
Delayed eruption of teeth, Hypoplasia of penis, Severe short stature, Short toe, Abnormality of t... ORPHA:633
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short neck, Tibial bowing, Shoulder dislocation, High palate, Short phalanx of finger, Bilateral ... OMIM:143095
Hand-Foot-Genital Syndrome
Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Vesicoureteral reflux,... OMIM:140000
Limb Body Wall Complex
Abnormality of the liver, Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the h... ORPHA:2369
Ring Chromosome 4 Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... ORPHA:1447
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Elevated circulating... OMIM:609441
Chromosome 15Q11.2 Deletion Syndrome
Swan neck-like deformities of the fingers, Arachnodactyly, Single transverse palmar crease, Short... OMIM:615656
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Secundum atrial septal defect, Postnatal growth retardation, ... OMIM:620242
Rubinstein-Taybi Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Short stat... ORPHA:783
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Patent ductus arteriosus, Sensorineural hearing impairment, Oligosacchariduria, Hepatosplenomegal... ORPHA:397709
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, S... ORPHA:1772
Craniosynostosis 3
Hallux valgus, Single transverse palmar crease, Brachydactyly OMIM:615314
Robinow Syndrome, Autosomal Recessive 2
Broad hallux, Bicuspid aortic valve, Sandal gap, Cleft soft palate, Posteriorly rotated ears, Sho... OMIM:618529
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Dextrocardia, Pyloric stenosis, Conductive hearing impairment, Sens... ORPHA:261197
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Anorexia, Renovascular hypertension, Renal tubular epithelial necro... ORPHA:49041
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Elevated circulating calcitonin concentration, Abnormal liver parenc... ORPHA:1332
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Hypospadias, Short stature, Pyloric stenosis, Patent ductus arteriosus... OMIM:218350
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism OMIM:619150
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short stature, Short middle phalanx of finger, Anal atresia, Brachydactyly ORPHA:1436
Robinow Syndrome
Atrial septal defect, Webbed penis, Micropenis, Syndactyly, Multicystic kidney dysplasia, Short s... ORPHA:97360
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Short metacarpal, Cataract, Depressed nasal bridge, Short neck, Elevat... OMIM:612462
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Ectopic kidney, Abnormal lung lobation, High palate, Gastroesophageal refl... OMIM:607872
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia, Multiple pterygia, Micrognathia OMIM:601809
White Forelock With Malformations
Low-set, posteriorly rotated ears, Finger syndactyly, Clinodactyly of the 5th finger, Atrial sept... ORPHA:2475
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Optic atrophy, Abnormal metacarpal morphology, Conductive hearing impairment, Brac... ORPHA:93262
Chromosome 2P16.1-P15 Deletion Syndrome
High, narrow palate, Calcaneovalgus deformity, High palate, Micropenis, Arachnodactyly, Depressed... OMIM:612513
Carpenter Syndrome 2
Single transverse palmar crease, Short neck, Bilateral cryptorchidism, High, narrow palate, Preax... OMIM:614976
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Enuresis nocturna, Pi... OMIM:615873
Stevenson-Carey Syndrome
Recurrent urinary tract infections, Posteriorly rotated ears, Coloboma, Hip dysplasia, Gastroesop... OMIM:611961
Holzgreve Syndrome
Low-set, posteriorly rotated ears, Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue,... ORPHA:2167
Pernicious Anemia
Malabsorption of Vitamin B12 OMIM:170900
Acrodysplasia Scoliosis
Spina bifida occulta, Brachydactyly ORPHA:2956
Brachydactyly-Preaxial Hallux Varus Syndrome
Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Broad thumb, Bra... ORPHA:1278
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Congenital hip dislocation, Cataract, Decreased response to growth hormone stimulation test, Shor... OMIM:616007
8P11.2 Deletion Syndrome
Hypoplasia of penis, Depressed nasal bridge, Retinal dystrophy, Hypogonadotropic hypogonadism, Mi... ORPHA:251066
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... OMIM:223800
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Renal insufficiency, Cataract, Short stature, Mitral valve prolapse, Nephropa... ORPHA:1563
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... ORPHA:93260
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Ventricular septal defect, Posteriorly rotated ears, Polyhydramnios, Rocker ... OMIM:301056
Saethre-Chotzen Syndrome
Triphalangeal thumb, Conductive hearing impairment, Clinodactyly of the 5th finger, Bilateral sin... ORPHA:794
Lethal Acantholytic Erosive Disorder
Natal tooth, Abnormal pinna morphology, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyl... ORPHA:158687
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of toe, Natal tooth, Brachydactyly, Single transverse palmar crease, Short f... OMIM:601957
Srd5A3-Cdg
Elevated hepatic transaminase, Cataract, Optic disc hypoplasia, Decreased response to growth horm... ORPHA:324737
Filippi Syndrome
Enlarged epiphyses, Finger syndactyly, Severe short stature, Ventricular septal defect, Short sta... ORPHA:3255
Blepharocheilodontic Syndrome 1
Neural tube defect, Clinodactyly, Anal atresia, Cutaneous syndactyly OMIM:119580
Acrofrontofacionasal Dysostosis
Hypospadias, Camptodactyly of finger, Micromelia, Short stature, Brushfield spots, Cleft palate, ... ORPHA:1784
Pfeiffer Syndrome
Finger syndactyly, Brachydactyly, Short stature, Short neck, Symphalangism affecting the phalange... ORPHA:710
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Overlapping toe, Single transverse palmar crease, Tapered finger, Optic atrophy, Prominent antihe... OMIM:617807
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Micrognathia, Coloboma, Retinal dysplasia, Megalocornea, Retinal atrophy... OMIM:236670
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... ORPHA:93259
Severe Intellectual Disability And Progressive Spastic Paraplegia
Abnormal repetitive mannerisms, Acetabular dysplasia, High palate, Short stature ORPHA:280763
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Maternal diabetes, Abnormality of the middle ear ossicles, Dista... ORPHA:2549
Satoyoshi Syndrome
Short metacarpal, Short stature, Malabsorption, Short metatarsal, Osteolytic defects of the phala... OMIM:600705
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Lactose intolerance, Recurrent urinary tract infections, Ventricular s... OMIM:619229
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crea... OMIM:272950
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... OMIM:602418
Diamond-Blackfan Anemia 21
Hallux valgus, Aortic regurgitation, Sandal gap, Short stature, Tapered finger, Secundum atrial s... OMIM:620072
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Short stature, Impulsivity, Esophageal atresia, Pulmonary artery steno... OMIM:301030
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Pseudopseudohypoparathyroidism
Short stature, Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short ... ORPHA:79445
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... ORPHA:2347
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Microcornea, High palate, Short... OMIM:268400
Tetraploidy
Micrognathia, Radial club hand, Cleft palate, Aplasia/Hypoplasia of the lungs, Hydronephrosis, Ap... ORPHA:3305
Ritscher-Schinzel Syndrome 4
Ulnar deviation of the hand, Short stature, Impulsivity, Tapered finger, Aggressive behavior, Cry... OMIM:619435
Mgat2-Cdg
Low-set, posteriorly rotated ears, Ventricular septal defect, Posteriorly rotated ears, Patent du... ORPHA:79329
Opsismodysplasia
Recurrent respiratory infections, Hepatomegaly, Severe short stature, Tapered finger, Splenomegal... ORPHA:2746
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Absent gallbladder, Abnormal pinna morph... OMIM:184705
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Metaphyseal... ORPHA:440354
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Severe short stature, Abnormality of the el... ORPHA:1005
Riboflavin Deficiency
Low levels of vitamin B2 OMIM:615026
Specific Granule Deficiency 2
Brachydactyly, Abnormal pinna morphology, Sandal gap, Posteriorly rotated ears, Recurrent pneumon... OMIM:617475
Nicolaides-Baraitser Syndrome
Single transverse palmar crease, High, narrow palate, Short metatarsal, Prominent interphalangeal... OMIM:601358
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Hypoplasia of deltoi... OMIM:173800
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Pulmonary hypoplasia, Talipes ... ORPHA:86822
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Atrial se... OMIM:250220
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Abnormality of the hand, Juvenile cataract, Short 5th metaca... ORPHA:1264
Rhombencephalosynapsis
Low-set, posteriorly rotated ears, Finger syndactyly, Septo-optic dysplasia, Aganglionic megacolo... ORPHA:59315
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Humeror... ORPHA:2019
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Narrow greater sciatic notch, Short phalanx of finger, Broad metacarpals,... ORPHA:508533
Radio-Renal Syndrome
Multicystic kidney dysplasia, Depressed nasal bridge, Micromelia, Short neck, Micrognathia, High,... ORPHA:3015
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath... OMIM:227270
Hijazi-Reis Syndrome
Recurrent respiratory infections, Postnatal growth retardation, Astigmatism, Gastroesophageal ref... OMIM:301094
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... ORPHA:2633
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
External genital hypoplasia, Short neck, Micrognathia, Tibial bowing, Coloboma, High palate, Clin... ORPHA:251028
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overlapping toe, Supernumerary nipple, Tapered finger, Cryptorchidism, Abnormal repetitive manner... OMIM:618653
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius, Ectopic anus ORPHA:2476
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Deviation of finger, Deforme... ORPHA:2831
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Gastroesophageal reflux, Atrial septal defect, Conductive hearin... OMIM:194190
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Elbow dislocation, Patent ductus arteriosus, Aplasia/Hypoplasi... ORPHA:1112
Sweeney-Cox Syndrome
Uplifted earlobe, Asplenia, Bilateral cryptorchidism, High palate, Gastroesophageal reflux, 2-5 t... OMIM:617746
Phelan-Mcdermid Syndrome
Ventricular septal defect, Abnormality of the kidney, Aggressive behavior, Patent ductus arterios... OMIM:606232
Lead Poisoning
Delayed eruption of teeth, Low levels of vitamin D, Abnormality of vitamin D metabolism ORPHA:330015
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Cataract, Sclerocornea, Short neck, Cryptorchidism, Sensorineural h... OMIM:614230
Orofaciodigital Syndrome Type 1
Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Multicystic kid... ORPHA:2750
Myhre Syndrome
Abnormal penis morphology, Brachydactyly, Cataract, Hypospadias, Severe short stature, Hearing im... ORPHA:2588
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, High, narrow palate, Right ve... OMIM:619472
Trichorhinophalangeal Syndrome Type 2
Low-set, posteriorly rotated ears, Recurrent urinary tract infections, Bilateral single transvers... ORPHA:502
Auriculoosteodysplasia
Attached earlobe, Elbow dislocation, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of th... ORPHA:114
Curry-Jones Syndrome
Anal stenosis, Intestinal pseudo-obstruction, Duplication of thumb phalanx, Intestinal malrotatio... OMIM:601707
Trisomy 18P
Abnormal pinna morphology, Short stature, Bilateral cryptorchidism, High, narrow palate, Pyloric ... ORPHA:1715
Periventricular Nodular Heterotopia
Aortic regurgitation, Abnormal heart valve morphology, Pyloric stenosis, Patent ductus arteriosus... ORPHA:98892
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Renal cyst, Clinodactyly of the 5th finger, Scapular winging, Short metaca... OMIM:272460
Koolen-De Vries Syndrome
Ureteral duplication, Overfriendliness, Cataract, Arachnodactyly, Bicuspid aortic valve, Hypospad... ORPHA:96169
Acrofacial Dysostosis, RodrĆ­guez Type
Microretrognathia, Finger syndactyly, Prominent nasal bridge, Aqueductal stenosis, Hand oligodact... ORPHA:1788
Okur-Chung Neurodevelopmental Syndrome
Broad hallux, Single transverse palmar crease, Protruding tongue, Cupped ear, Abnormal heart morp... OMIM:617062
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Bundle branch block, Short... ORPHA:373
2P15P16.1 Microdeletion Syndrome
Protruding ear, High palate, Bilateral single transverse palmar creases, Multicystic kidney dyspl... ORPHA:261349
Pseudoaminopterin Syndrome
Single transverse palmar crease, Limited elbow movement, Asplenia, High palate, Patent foramen ov... ORPHA:221120
Summitt Syndrome
Syndactyly OMIM:272350
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Supernumerary ni... OMIM:263750
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Steroid-dependent nephrotic syndrome, Urinary incontinence, Single transverse palm... OMIM:300912
Senior-Loken Syndrome 9
Hypoplasia of the femoral head, Retinal dystrophy, Stage 5 chronic kidney disease, Cholestasis, M... OMIM:616629
Lowry-Wood Syndrome
Short stature, Squared iliac bones, Limited elbow extension, Hip dislocation, Elbow flexion contr... OMIM:226960
Osteoglophonic Dysplasia
Short neck, Short metatarsal, Eruption failure, High palate, Short palm, Short phalanx of finger,... OMIM:166250
X Small Rings
Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Short neck, Tapered finger, Fet... ORPHA:96201
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Protruding ear, Gastroesophageal reflux, M... ORPHA:268261
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Cataract, Depressed nasal bridge, Optic atrophy, Coloboma, Low-set... OMIM:612379
Hall-Riggs Syndrome
Metaphyseal dysplasia, Intrauterine growth retardation, Brachydactyly OMIM:234250
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Thickened nuchal skin fold, Congenital muscular torticollis, Short stature, Abnormality of the up... ORPHA:2916
Werner Syndrome
Myocardial infarction, Thyroid carcinoma, Pulmonary artery stenosis, Secondary amenorrhea, Neopla... ORPHA:902
Nager Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Mi... ORPHA:245
Radial Ray Hypoplasia With Choanal Atresia
Depressed nasal bridge, Choanal atresia, Short thumb, Hypoplasia of the radius, Small thenar emin... OMIM:179270
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Brachydactyly OMIM:248300
Banki Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... ORPHA:1228
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, High palate,... OMIM:251750
Apert Syndrome
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Mi... ORPHA:87
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent gallbladder, Overriding aorta, Mi... ORPHA:3186
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Short neck, High, narrow palate, Hydrocephalus, Ileus, Growth delay, High palate, Low-set ears, B... OMIM:620156
Baker-Gordon Syndrome
Abnormal repetitive mannerisms, Self-injurious behavior, Gastroesophageal reflux OMIM:618218
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Microphallus, Pelvic kidney, Abnormal repetitive mannerisms, Attenuation o... ORPHA:468631
Hirschsprung Disease With Type D Brachydactyly
Short thumb, Aganglionic megacolon, Type D brachydactyly OMIM:306980
Craniofrontonasal Syndrome
Toe syndactyly, Broad hallux, Down-sloping shoulders, Hypospadias, Short neck, Congenital pseudoa... OMIM:304110
MĆ¼llerian Aplasia And Hyperandrogenism
Renal agenesis, Short stature, Short neck, Cleft palate, Protruding ear, Cubitus valgus, Abnormal... ORPHA:247768
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Severe postnatal growth... OMIM:266810
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Short stature, Tapered finger, Repeti... ORPHA:401777
Secondary Short Bowel Syndrome
Abnormality of vitamin metabolism, Dehydration ORPHA:95427
Thoracoabdominal Syndrome
Hypospadias, Patent ductus arteriosus, Hydrocephalus, Anencephaly, Cleft palate, Pulmonary hypopl... OMIM:313850
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Hydrocephalus, High palate, Low-set ears, Brachydactyly ORPHA:2180
Maxillonasal Dysplasia
Low levels of vitamin K, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalang... ORPHA:1248
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Hydrou... OMIM:236700
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Cryptorchidism, Cleft palate, Protruding ear, Abdominal situ... OMIM:619123
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Growth delay, Absence of intrinsic factor OMIM:243320
Rin2 Syndrome
Brachydactyly, Cryptorchidism, High palate, Umbilical hernia, Aortic aneurysm ORPHA:217335
Lowry-Wood Syndrome
Epiphyseal dysplasia, Abnormality of retinal pigmentation, Short stature, Elbow dislocation, Coxa... ORPHA:1824
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short stature, Stage 5 chronic kidney disease, Short long bone, Polydactyly, Hepatic cysts, Brach... OMIM:613819
Congenital Tracheomalacia
Pneumonia, Esophageal atresia, Patent ductus arteriosus, Partial anomalous pulmonary venous retur... ORPHA:95430
Baller-Gerold Syndrome
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b... ORPHA:1225
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia, Intestinal malrotation ORPHA:2140
Cardioacrofacial Dysplasia 2
Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ... OMIM:619143
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Underfolded helix, Short neck, Abnormal p... ORPHA:178303
Noonan Syndrome
Thickened nuchal skin fold, Low-set, posteriorly rotated ears, Hepatomegaly, Short stature, Abnor... ORPHA:648
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Ring Chromosome 12 Syndrome
Syndactyly, Secundum atrial septal defect, High, narrow palate, Abnormal 5th finger morphology, C... ORPHA:1439
Cockayne Syndrome A
Prominent nose, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic ili... OMIM:216400
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Short stature, Tapered finger, Sensorineural hearing impairment, Protruding ear, Hy... ORPHA:2479
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormality of... ORPHA:3344
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Severe short stature, Telangiectasia of the skin, Camp... ORPHA:2176
White-Sutton Syndrome
Duplicated collecting system, Abnormality of the gastrointestinal tract, Hyperactivity, Posterior... ORPHA:468678
Shukla-Vernon Syndrome
Impulsivity, Aggressive behavior, Tapered finger, Long fingers, Attention deficit hyperactivity d... OMIM:301029
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Recurrent urinary tract infections, Aganglionic megacolon, Abnormality of th... ORPHA:847
Knobloch Syndrome
Occipital encephalocele, Retinal detachment, Cataract, Dextrocardia, Ectopia lentis, Pyloric sten... ORPHA:1571
Xq28 (MECP2) duplication
Recurrent respiratory infections, Functional abnormality of the bladder, Gastroesophageal reflux,... DECIPHER:45
Eem Syndrome
Finger syndactyly, Abnormality of retinal pigmentation, Ectrodactyly, Macular dystrophy, Retinopathy ORPHA:1897
Alazami Syndrome
Abnormal eating behavior, Postnatal growth retardation, Slender long bone, Low-set ears, Atrial s... ORPHA:319671
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Glossoptosis, High palate, G... ORPHA:444077
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Myopic astigmatism, Bilateral conductive hearing impairment, Low-set ears, Dysphagia... OMIM:617802
Difference Of Sex Development-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Small scrotum, Short neck, Genu valgum, L... ORPHA:2983
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Port... ORPHA:101330
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane, Enlarged vestibular aqueduct, Brachydactyly ORPHA:79414
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Sandal gap, Broad hallux, Persistence of primary teeth, Optic atrophy, Ectopia pupillae... OMIM:618727
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Edema of the dorsum of feet, Edema of the dorsum of hands, Tapered finger, Sensorineural hearing ... ORPHA:544503
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Short neck, Absent external genitalia, Missing ribs, Urethral atresia, Aplasia of the vagina, Pul... OMIM:271520
Adams-Oliver Syndrome 1
Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Supernumerary ni... OMIM:100300
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Hepatic cysts, Coxa... OMIM:617425
Osteoporosis-Pseudoglioma Syndrome
Low serum calcitriol, Short stature ORPHA:2788
Linear Skin Defects With Multiple Congenital Anomalies 1
Single transverse palmar crease, Sclerocornea, Anteriorly placed anus, Histiocytoid cardiomyopath... OMIM:309801
Incontinentia Pigmenti
Abnormal hand morphology, Spina bifida occulta, Finger syndactyly, Abnormal chorioretinal morphol... ORPHA:464
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Attention deficit hyperacti... OMIM:618504
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Aggressive behavior, Gastroesophageal reflux, Attention deficit hyperactivity diso... OMIM:620292
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cryptorchidism, Self-injurious behavior, Talipes equinovarus, Compulsive behaviors, Abnormal repe... OMIM:618917
Pycnodysostosis
Rhizomelia, Decreased response to growth hormone stimulation test, Delayed eruption of primary te... ORPHA:763
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Cataract, Rocker bottom foot, Spina bifida, Short neck, Cleft ... OMIM:616038
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Congenital hip dislocation, Rocker bottom foot, Single transverse palmar crease, Pyloric stenosis... OMIM:133705
CantĆŗ Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg... ORPHA:1517
Brachydactyly, Type E1
Short metacarpal, Moderately short stature, Short metatarsal, Multiple impacted teeth, Short clav... OMIM:113300
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Telangiectasia of the skin, Aplasia/hypoplasia involving b... ORPHA:75508
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect, Posteriorly rotated ears, Proximal placement of thumb, Coxa valga, Sho... OMIM:212066
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Micrognathia, Hepatic melanin-like lysosomal... OMIM:208085
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Short thumb, Brachydactyly ORPHA:435804
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repetitive mannerisms, Pa... OMIM:618718
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Desbuquois Dysplasia 2
Single transverse palmar crease, Short neck, Metaphyseal widening, Short phalanx of finger, Bifid... OMIM:615777
Robinow Syndrome, Autosomal Dominant 1
Short neck, High palate, Short palm, Micropenis, Duplication of the distal phalanx of hand, Renal... OMIM:180700
Goldberg-Shprintzen Megacolon Syndrome
Finger syndactyly, Aganglionic megacolon, Hypospadias, Short stature, Cleft palate, Macrotia, Iri... ORPHA:66629
Autosomal Recessive Amelia
Hypoplasia of penis, Small scrotum, Micrognathia, Cryptorchidism, Aplasia/Hypoplasia of the lungs... ORPHA:1027
Branchio-Oculo-Facial Syndrome
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Cataract, Renal agenesis, Abnorm... ORPHA:1297
Hamamy Syndrome
Long toe, Syndactyly, Hypoparathyroidism, Prolonged QRS complex, Down-sloping shoulders, Tapered ... OMIM:611174
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... ORPHA:93258
Macs Syndrome
Dilation of Virchow-Robin spaces, Short stature, Single transverse palmar crease, Cryptorchidism,... OMIM:613075
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... ORPHA:246
Microcephalic Primordial Dwarfism, Montreal Type
Low-set, posteriorly rotated ears, Severe short stature, Cryptorchidism, Congenital pyloric atres... ORPHA:2617
Greenberg Dysplasia
Rhizomelia, Micromelia, Abnormal pelvis bone ossification, Severe short-limb dwarfism, Brachydactyly ORPHA:1426
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Aplasia of the nasal bone, Streak ovary, Jejunal atresia, Hypospadias, Ileal atresia,... OMIM:618820
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Dubowitz Syndrome
Single transverse palmar crease, Protruding ear, Hypoplasia of the iris, High palate, Gastroesoph... OMIM:223370
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Brachydactyly ORPHA:2762
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Arachnodactyly, Heart murmur, Pulmonic stenosis, Attention deficit hyperactivity d... OMIM:617600
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Optic nerve hypoplasia, Hip dysplasia, Low-set ears, Clinodactyly of the 5th finger, Brachydactyly OMIM:618381
Bile Acid Malabsorption, Primary, 2
Low levels of vitamin D, Decreased circulating vitamin E concentration OMIM:619481
Behavioral Variant Of Frontotemporal Dementia
Thickened nuchal skin fold, Restrictive behavior, Collectionism, Restlessness, Aggressive behavio... ORPHA:275864
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Hydrocephalus, Optic atrophy, Hand... ORPHA:60040
Fg Syndrome 3
Hyperactivity, Broad hallux, Pyloric stenosis, Sensorineural hearing impairment, Cryptorchidism, ... OMIM:300406
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Posteriorly rotated ears, Sandal gap, Tapered finger, Aggressive behavior, Low-set... OMIM:618430
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, Single transverse palmar crease, High, narrow palate, Protruding ear, Colo... OMIM:619475
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Short neck, Sandal gap, Sh... OMIM:614800
Chylomicron Retention Disease
Growth delay, Abnormality of vitamin metabolism ORPHA:71
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Renal Agenesis
Renal insufficiency, Absent vas deferens, Proteinuria, Unilateral renal agenesis, Ureteral agenes... ORPHA:411709
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Elbow dislocation,... ORPHA:2249
Intrinsic Factor Deficiency
Malabsorption of Vitamin B12, Vitamin B12 deficiency OMIM:261000
Trisomy 9P
Bilateral single transverse palmar creases, Short neck, Abnormal pupil morphology, Impacted tooth... ORPHA:236
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Finger syndactyly, Ventricular septal defect, Ectopic kidney, Cryptorchidis... ORPHA:1519
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Cryptorchidism, Submu... OMIM:619103
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Noncompaction cardiomyopathy, Short metacarpal, Short humerus, Catarac... ORPHA:508542
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Patent ductus arteriosus... OMIM:300048
Primary Dystonia, Dyt13 Type
Torticollis, Abnormal repetitive mannerisms ORPHA:98807
Microcephaly, Short Stature, And Limb Abnormalities
Short metacarpal, Brachydactyly, Short stature, Hypoplasia of the radius, Patellar aplasia, Patel... OMIM:617604
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Rhizomelia, Posteriorly rotated ears, Short neck, Metaphyseal widening, Irregular epiphyses, Shor... OMIM:612813
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Bicuspid aortic valve, Short metatarsal, Finger clinodactyly, High pa... OMIM:617137
Simpson-Golabi-Behmel Syndrome, Type 1
Abnormal lung lobation, Renal cyst, Narrow greater sciatic notch, Short palm, Atrial septal defec... OMIM:312870
Sillence Syndrome
Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Chess-pawn... ORPHA:3168
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Patent ductus arteriosus, Decreased adenosylcobalamin, Decreased methylco... OMIM:614857
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Posteriorly rotated ears, Short stature, Short neck, High, narrow palate, Smal... ORPHA:1787
Generalized Eruptive Histiocytosis
Abnormal vitamin B12 level ORPHA:157991
Cinca Syndrome
Hepatomegaly, Brachydactyly, Retrobulbar optic neuritis, Sensorineural hearing impairment, Spleno... ORPHA:1451
Cornelia De Lange Syndrome
Hypoplasia of penis, Micromelia, Short neck, Proximal placement of thumb, Microcornea, High palat... ORPHA:199
5Q14.3 Microdeletion Syndrome
Toe syndactyly, Abnormal repetitive mannerisms, Optic nerve hypoplasia ORPHA:228384
Methylmalonic Acidemia With Homocystinuria Type Cblf
Vitamin B12 deficiency, Decreased adenosylcobalamin, Decreased methylcobalamin, Abnormal heart mo... ORPHA:79284
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Recurrent respiratory infections, Supernumerary nipple, High palate, Gastroesophageal reflux, Low... OMIM:616579
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Short stature, Dextrotransposition of the great arteries, High palate,... OMIM:619995
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation, Short stature, Coxa valga, Holoprosencephaly, Clinodactyly o... ORPHA:2163
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short stature, Postnatal growth retardation, Pyloric stenosis, Cryptorchidism, Small hand, Cleft ... ORPHA:96184
Short Syndrome
Posterior embryotoxon, Severe short stature, Corneal opacity, Abnormal pupil morphology, Sensorin... ORPHA:3163
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Congenital hip dislocation, Aqueductal stenosis, Fetal pyelectasis, High palate, Compulsive behav... OMIM:619512
Diarrhea 6
Vitamin B12 deficiency OMIM:614616
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Patent ductus arteriosus, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Left-to-right shunt, Congestive heart failure, Patent ductus ar... ORPHA:99050
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Growth delay, Intrauterine growth retardation, Sensorineural hearing impairment, Abnormality of v... ORPHA:541423
Occipital Horn Syndrome
Venous insufficiency, High, narrow palate, Coxa vara, Humerus varus, Gastroesophageal reflux, Sho... ORPHA:198
Marshall-Smith Syndrome
Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Glos... OMIM:602535
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Single transverse palmar crease, Urinary incontinence, High palate, Clinodact... OMIM:619522
Griscelli Syndrome
Encephalocele, Hepatomegaly, Short stature, Pyloric stenosis, Splenomegaly, Jaundice, Hydrocephal... ORPHA:381
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Carey-Fineman-Ziter Syndrome
Short stature, Aplasia/Hypoplasia of the tongue, Aplasia of the pectoralis major muscle, Glandula... ORPHA:1358
Congenital Bile Acid Synthesis Defect Type 3
Abnormality of vitamin metabolism ORPHA:79302
MĆ¼llerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Hypoplasia of penis, Micromelia, Postaxial hand polydactyly, Split hand, Abnormali... ORPHA:2491
Blepharonasofacial Malformation Syndrome
Finger syndactyly, External ear malformation, Cryptorchidism, Optic atrophy, Cleft palate, Low po... ORPHA:1252
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... OMIM:612447
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, Postaxial polydactyly, Short stature, 2-4 toe syndactyly, 2-3 toe syndact... OMIM:614099
Trichothiodystrophy 3, Photosensitive
Natal tooth, Cataract, Short stature, Bilateral cryptorchidism, Pyloric stenosis, Developmental c... OMIM:616395
Wiedemann-Steiner Syndrome
Hyperactivity, Rhizomelia, Decreased response to growth hormone stimulation test, Abnormality of ... ORPHA:319182
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Chorioretinal dysplasia, Abnormal pupil morphology, Oligosacchariduria, Neph... ORPHA:534
Congenital Disorder Of Glycosylation, Type Iit
Posteriorly rotated ears, Short stature, Low-set ears, Conductive hearing impairment, Low levels ... OMIM:618885
Joubert Syndrome 33
Cone/cone-rod dystrophy, Syndactyly, Splenomegaly OMIM:617767
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Low serum calcitriol, Irregular, rachitic-like metaphyses, Subperioste... ORPHA:289157
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Hyperactivity, Asymmetry of the ears, Bilateral cryptorchidism, Cryptorchidism,... OMIM:617796
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Cataract, Short stature, Short neck, Postnatal growth retardation, J... ORPHA:168577
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... OMIM:249700
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Posteriorly rotated ears, Cholelithiasis, Tapered finger, Aggressive behavior, Abno... OMIM:301066
Vexas Syndrome
Arteritis, Nasal chondritis, Sensorineural hearing impairment, Chondritis of pinna OMIM:301054
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Mitral valve prolapse, Self-injurious behavior, Aortic root a... ORPHA:449291
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79443
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Prolonged QT interval, Short metacarpal, Short fifth metatarsal, Catar... ORPHA:79444
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia, Micrognathia OMIM:253310
Macrocephaly-Developmental Delay Syndrome
Recurrent pneumonia, Hepatosplenomegaly, Self-injurious behavior, High palate, Clinodactyly of th... ORPHA:397612
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Low serum calcitriol, Sensorineural hearing impairment, Coxa vara, Abn... ORPHA:289176
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metacarpal, Short metatarsal, Brachydactyly OMIM:113400
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Anteriorly placed anus, C... OMIM:151050
Knobloch Syndrome 1
Occipital encephalocele, Persistent pupillary membrane, Spina bifida occulta, Attenuation of reti... OMIM:267750
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Chorioretinal hypopigmentation, Clitoral ... ORPHA:398079
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, High serum calcitriol, Tibial bowing, Femoral bowing, Genu valgum, Fibu... OMIM:600785
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Short stature, Aggressive behavior, 2-3 toe syndactyly, Macrotia, Abnormal repetit... ORPHA:391307
Chitayat Syndrome
Hallux valgus, Recurrent respiratory infections, Short stature, Abnormal pulmonary interstitial m... OMIM:617180
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Growth delay OMIM:615631
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Short stature, Cleft palate, Slender long bone, Vesicoureteral reflux, Hydronephrosis, Brachydactyly OMIM:618265
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Ventricular septal defect, Short stature, High, narrow palate, ... OMIM:619575
Bent Bone Dysplasia Syndrome 1
Natal tooth, Bent long bone, Hypoplastic pubic bone, Hepatosplenomegaly, Short clavicles, Low-set... OMIM:614592
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... OMIM:228900
Kabuki Syndrome
Hypoplasia of penis, Protruding ear, Microcornea, Coloboma, High palate, Conductive hearing impai... ORPHA:2322
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Micromelia, Short neck, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly of... ORPHA:2636
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Retinal dystrophy, Short stature, Short neck, Secundum atrial septal defect, Low posterior hairli... OMIM:615802
Osteoglosphonic Dysplasia
Severe short stature, Rhizomelia, Cryptorchidism, Protruding ear, Multiple unerupted teeth, Brach... ORPHA:2645
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Severe short stature, Micromelia, Optic disc coloboma, Hypoplasia of the iris, ... OMIM:600092
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Cataract, Posteriorly rotated ears, Rocker bottom foot, Hearing impairment, Tapered finger, Crypt... OMIM:601353
Imerslund-Grasbeck Syndrome 2
Vitamin B12 deficiency OMIM:618882
Crouzon Syndrome
Keratitis, Hydrocephalus, Optic atrophy, High palate, Atresia of the external auditory canal, Con... OMIM:123500
Bohring-Opitz Syndrome
Low-set, posteriorly rotated ears, Recurrent respiratory infections, Retinal atrophy, Ulnar devia... ORPHA:97297
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Spina bifida occulta, Short stature ORPHA:1514
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Short metacarpal, Rhizomelia, Abnormality of the elbow, Disproportiona... ORPHA:263463
Classic Galactosemia
Low levels of vitamin D, Ascites ORPHA:79239
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypoplastic nipples, Camptodacty... OMIM:603543
Orofaciodigital Syndrome Xix
Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Underfolded helix, Postaxi... OMIM:620107
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Abnormality of the hand, Keratitis, Abnormal diaphysis morphology, Abnormality... ORPHA:1657
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Finger syndactyly, Toe syndactyly, Hypospadias, Posteriorly rotated ears, Short hallux, Supernume... ORPHA:3224
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly, Urinary incontinence OMIM:615284
Kuskokwim Syndrome
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the patella ORPHA:1149
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna ORPHA:1122
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... ORPHA:2334
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Cleft hard palate, Asplenia, Abnor... ORPHA:261552
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Clinodactyly OMIM:619091
Autosomal Recessive Cutis Laxa Type 1
Multiple bladder diverticula, Abnormal systemic arterial morphology, Vesicoureteral reflux, Emphy... ORPHA:90349
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Cleft hard palate, Asplenia, Abnor... ORPHA:261537
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nose, Cataract, Corneal opacity, Abnormality of cartilage of external ear, Recurrent upper r... ORPHA:2399
Fatco Syndrome
Finger syndactyly, Short stature, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absen... ORPHA:2492
Distal Deletion 9P
Low-set, posteriorly rotated ears, Hypospadias, Short neck, High, narrow palate, Aplasia/Hypoplas... ORPHA:1642
Fgfr2-Related Bent Bone Dysplasia
Overfolding of the superior helices, Natal tooth, Hypoplastic ischia, Bowing of the legs, Congeni... ORPHA:313855
Bainbridge-Ropers Syndrome
Ulnar deviation of the hand, Arachnodactyly, Intestinal malrotation, Posteriorly rotated ears, Su... OMIM:615485
Epidermolysis Bullosa, Junctional 1B, Severe
Syndactyly, Pyloric stenosis OMIM:226700
15q26 overgrowth syndrome
Long toe, Arachnodactyly, Camptodactyly of finger, Abnormality of the kidney, Tapered finger, Sho... DECIPHER:81
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Hypoplasia of penis, Cataract, Iris hypopigmentation, Camptodactyly of finger,... ORPHA:284160
Mowat-Wilson Syndrome
Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Cleft hard palate, Asplenia, Gastr... ORPHA:2152
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Single transverse palmar crease, Proteinuria, Glomerulonephritis, Hip dislocation, G... OMIM:619428
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Optic nerve hypoplasia, Metatarsus adductus, Postnatal growth retardation, Sensorine... ORPHA:300570
Pfeiffer Syndrome
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... OMIM:101600
Hall-Riggs Syndrome
Delayed eruption of teeth, Short stature, Abnormal epiphysis morphology, Limb undergrowth, Abnorm... ORPHA:2107
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Anal stenosis, Optic nerve hypoplasia, Postnatal growth retardation, 2-3 t... OMIM:620029
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod... OMIM:609638
Celiac Disease, Susceptibility To, 1
Vitamin B12 deficiency, Short stature, Postnatal growth retardation, Reduced blood folate concent... OMIM:212750
Noonan Syndrome 1
Short neck, High, narrow palate, High palate, Atrial septal defect, Hypospadias, Short stature, C... OMIM:163950
H Syndrome
Hallux valgus, Diabetes mellitus, Malabsorption, Recurrent pharyngitis, Hydrocephalus, Delayed pu... ORPHA:168569
Bilateral Generalized Polymicrogyria
Short stature, Oral-pharyngeal dysphagia, Growth delay, Self-injurious behavior, Gastroesophageal... ORPHA:208447
Hypercholanemia, Familial 1
Low levels of vitamin K OMIM:607748
Larsen Syndrome
Finger syndactyly, Short stature, Cryptorchidism, Accessory carpal bones, Cleft palate, Abnormal ... ORPHA:503
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb OMIM:179250
Sirenomelia
Absence of the sacrum, Spina bifida, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia o... ORPHA:3169
Tuberous Sclerosis Complex
Renal cyst, Chorioretinal hypopigmentation, Pheochromocytoma, Internal hemorrhage, Hyperactivity,... ORPHA:805
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Low levels of vitamin K ORPHA:565899
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Elevated hepatic transaminase, Hypoplasia of penis, Bilateral cryptorchidi... ORPHA:66634
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Prominent nose, Micrognathia, Aplasia of the epiglottis, Protruding ... OMIM:268305
Yunis-Varon Syndrome
Redundant neck skin, Congenital hip dislocation, Single transverse palmar crease, Sclerocornea, S... OMIM:216340
Multiple Synostoses Syndrome 2
Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equinovarus, Carpal syn... OMIM:610017
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent ear helix, Abnormal repetitive mannerisms, Anophthalmia, Large earlobe ORPHA:411986
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Short metacarpal, Brachydactyly, Rhizomelia, Posteriorly rotated ears, Short metatarsal, Small ha... OMIM:614813
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac... OMIM:217085
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Micromelia, Short neck, Epispadias, High, narrow palate, Coxa vara, Short pa... ORPHA:3107
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Short neck, Protruding ear, High palate, Abnormal repetitive mannerisms, Bifid uvula, Nail-biting... OMIM:620330
Cree Mental Retardation Syndrome
Bifid scrotum, Aplasia/Hypoplasia of the ribs, Posteriorly rotated ears, Cleft soft palate, Rocke... OMIM:606851
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Urinary incontinence, Aggressive behavior, Inappropriate behavior, Disinhibition, A... OMIM:600795
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Posteriorly rotated ears, Single transverse palmar crease, Unilateral renal age... OMIM:618419
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Hypogonadotrop... OMIM:206900
Doors Syndrome
Adrenal hyperplasia, Abnormal finger morphology, Nephrocalcinosis, High palate, Gastroesophageal ... ORPHA:79500
Multiple Pterygium-Malignant Hyperthermia Syndrome
Congenital muscular torticollis, Finger syndactyly, Severe short stature, Arachnodactyly, Long pa... ORPHA:2215
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Hypoplasia of the ulna, Telangiectasia of the skin, Aplasia/Hypoplasia... ORPHA:2909
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Retinal detachment, Telangiectas... ORPHA:1556
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... ORPHA:1319
Prader-Willi Syndrome
Decreased response to growth hormone stimulation test, Short palm, Micropenis, Iris hypopigmentat... OMIM:176270
Proteus Syndrome
Central heterochromia, Pulmonary embolism, Abnormal finger morphology, Abnormal lung lobation, Re... ORPHA:744
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Aganglionic megacolon, Hearing impairment, Epispadias, Ab... ORPHA:3339
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Low-set, posteriorly rotated ears, Rhizomelia, Posteriorly rotated ears, Short neck, Mesomelia, B... ORPHA:171866
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Hydroureter, Hypospadias, Micromelia, Capitate-hamate fusion, Epispadi... ORPHA:289
Fibrochondrogenesis
Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Short neck, Cleft palat... ORPHA:2021
Bardet-Biedl Syndrome 6
Syndactyly, Hypospadias, Postaxial polydactyly, Renal cyst, Pigmentary retinopathy, Rod-cone dyst... OMIM:605231
Coffin-Siris Syndrome 12
Protruding ear, High palate, Gastroesophageal reflux, Patent foramen ovale, Abnormal repetitive m... OMIM:619325
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Broad hallux, Ventricular septal defect, 1-2 toe syndactyly, Tapered finger, Posteriorly rotated ... OMIM:301044
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Corneal opacity, Renal hypoplasia/aplasia, Absent thumb, Aplas... ORPHA:1234
Metachromatic Leukodystrophy
Urinary incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallblad... ORPHA:512
Meester-Loeys Syndrome
Aortic dissection, Arachnodactyly, Short stature, Mitral valve prolapse, Ascending tubular aorta ... OMIM:300989
Intellectual Developmental Disorder, Autosomal Dominant 34
2-3 toe syndactyly, Short foot, Bruxism, Abnormal repetitive mannerisms, Hearing impairment OMIM:616351
Orofaciodigital Syndrome Type 2
Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity, Protruding ea... ORPHA:2751
Hennekam Syndrome
Delayed eruption of teeth, Finger syndactyly, Recurrent respiratory infections, Mild postnatal gr... ORPHA:2136
Lamb-Shaffer Syndrome
Hyperactivity, Mild postnatal growth retardation, Optic atrophy, Hip dysplasia, Abnormal temper t... ORPHA:530983
Pgm3-Cdg
Lactose intolerance, Mild neurosensory hearing impairment, Membranoproliferative glomerulonephrit... ORPHA:443811
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Acromesomelic Dysplasia 1
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met... OMIM:602875
You-Hoover-Fong Syndrome
Hearing impairment, Cleft palate, Coarctation of aorta, Vascular ring, Clinodactyly, Paroxysmal b... OMIM:616954
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Syndactyly, Choroidal neovascularization, Cryptorchidism, Macular degeneration, Congenital bilate... ORPHA:404451
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Hepatomegaly, Short stature, Pneumonia, Limited elbow movement, Limited wri... OMIM:617809
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Posteriorly rotated ears, Single transverse palmar crease, Aggressive behavior, Gastrointestinal ... ORPHA:466943
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Protruding ear, High palate, Micropenis, Abnormal repetitive mannerisms, Hyperactivity, Hypospadi... OMIM:309590
Blepharo-Cheilo-Odontic Syndrome
Conductive hearing impairment, Finger syndactyly, Anal atresia, Bilateral cleft lip and palate ORPHA:1997
Pmm2-Cdg
Prominent nose, Elevated circulating thyroid-stimulating hormone concentration, Intracranial hemo... ORPHA:79318
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, Cataract, External genital hypoplasia, Cryptorchidism, Submuco... ORPHA:2250
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Fanconi Anemia, Complementation Group P
Absent thumb, Micrognathia, Short thumb, Bulbous nose, Hypoplasia of the radius, Cryptorchidism, ... OMIM:613951
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... ORPHA:989
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Short stature, Postaxial polydactyly, Splenomegaly, Patent ductus arteriosus, Posta... OMIM:617088
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bowing of the legs, High serum calcitriol, Femoral bowing, Tibial bowing, Fibular bowing, High se... OMIM:241530
17Q11.2 Microduplication Syndrome
Macroorchidism, Thick nasal alae, Deviated nasal septum, Bifid nose ORPHA:139474
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Corneal opacity, Proteinuria, Micromelia, Ulnar bowing, Madelung deformity, Hematu... ORPHA:1765
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Finger syndactyly, Severe short stature, Hypospadias, Aplastic clavicl... ORPHA:2658
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Attention deficit hyperact... OMIM:619580
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Sensorineural hearing impairment, Split hand, Absent hand, Aniridia, Oligodactyly ORPHA:2440
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Cardiospondylocarpofacial Syndrome
Pseudoepiphyses, Gastroesophageal reflux, Conductive hearing impairment, Vesicoureteral reflux, A... OMIM:157800
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Dubin-Johnson Syndrome
Abnormal urinary color, Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract... ORPHA:234
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hepatomegaly, Agitation, Stroke, Cerebral ischemia, Abnormal repetitive mannerisms ORPHA:927
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Neurocardiofaciodigital Syndrome
Syndactyly, Optic disc pallor, Cataract, Short stature, Sclerocornea, Patent ductus arteriosus, V... OMIM:619869
Bile Acid Synthesis Defect, Congenital, 6
Low levels of vitamin D OMIM:617308
Dentici-Novelli Neurodevelopmental Syndrome
Cataract, Macrotia, Abnormal repetitive mannerisms, Hearing impairment OMIM:619877
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Disinhibition, Dysphagia OMIM:612069
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Short stature, Dextrocardia, Patent ductus arteriosus, Decreased adenosyl... OMIM:277380
Joubert Syndrome 6
Stage 5 chronic kidney disease, Hepatic fibrosis, Bile duct proliferation, Chorioretinal coloboma... OMIM:610688
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Choanal atresia, Morning glory anomaly, Nephrolithiasis,... ORPHA:91412
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Arachnodactyly, Cone-shaped epiphysis, Palmoplantar keratoderma, Astigmatism, Brachydactyly ORPHA:2824
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Pseudohypoparathyroidism, Low urinary cyclic AMP response to PTH administration... OMIM:603233
Reynolds Syndrome
Hepatomegaly, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Jaundice, Xerostomi... ORPHA:779
Dysostosis, Stanescu Type
Bowing of the long bones, Short stature, Micromelia, Short neck, Macroglossia, Abnormal epiphysis... ORPHA:1798
Kbg Syndrome
Syndactyly, Posteriorly rotated ears, Single transverse palmar crease, Short stature, Short neck,... OMIM:148050
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Posteriorly rotated ears, Short stature, Congenital sensorineural hearing impairment, M... OMIM:617306
Fraser Syndrome 3
Hypoplasia of the bladder, Hypoplasia of penis, Short toe, Hydrocephalus, Abnormal lung lobation,... OMIM:617667
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Short stature, Camptodactyly of finger, Narrow palate, Low posterior hairline,... ORPHA:1323
Ivic Syndrome
Hearing impairment, Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the ... ORPHA:2307
Marchiafava-Bignami Disease
Low levels of vitamin B1 ORPHA:221074
Cleidocranial Dysplasia 1
Short middle phalanx of the 2nd finger, High, narrow palate, Coxa vara, High palate, Hypoplastic ... OMIM:119600
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Decreased circulating calcifediol concentration, Bowing of the legs, Femoral bowing, Tibial bowin... OMIM:600081
Mowat-Wilson Syndrome
Bifid scrotum, Uplifted earlobe, Microcornea, Chorioretinal coloboma, Iris coloboma, Hypospadias,... OMIM:235730
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Metaphyseal dysplasia, Radial bowing, Broad hallux, Rhizomelia, Bowed humerus, Flared metaphysis,... OMIM:618019
Camptobrachydactyly
Syndactyly, Urinary incontinence, Short toe, Hand polydactyly, Congenital finger flexion contract... OMIM:114150
Myoclonic-Astatic Epilepsy
Microphthalmia, Syndactyly, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:1942
Autosomal Dominant Hypophosphatemic Rickets
Growth delay, Low levels of vitamin D ORPHA:89937
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hand oligodactyly, Aplasia of the ulna OMIM:276822
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Short palm, Duodenal ulcer, Malabsorption, Sensorineural hearing impairment, Steatorrhea, Brachyd... ORPHA:3217
MƩnƩtrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Abnormal gastric mucosa mor... ORPHA:2494
Thauvin-Robinet-Faivre Syndrome
Renal dysplasia, Renal malrotation, Ventricular septal defect, Bowing of the legs, Macrotia, Sens... OMIM:617107
Mucopolysaccharidosis Type 3
Mixed hearing impairment, Thickened helices, Cardiomegaly, Abnormality of the middle ear ossicles... ORPHA:581
Crane-Heise Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypopl... ORPHA:1512
Arms, Malformation Of
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius OMIM:107900
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... ORPHA:85170
Rothmund-Thomson Syndrome Type 1
Delayed eruption of teeth, Short metacarpal, Juvenile cataract, Premature ovarian insufficiency, ... ORPHA:221008
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, Ketonuria, Aminoaciduria, High palate, Umbilical hernia OMIM:614520
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Bone Marrow Failure Syndrome 3
Short stature, Decreased circulating vitamin E concentration, Cupped ear, Intrauterine growth ret... OMIM:617052
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Methylmalonic acidemia, Decreased methylcobalamin OMIM:236270
Knobloch Syndrome 2
Encephalocele, Recurrent respiratory infections, Retinal detachment, Anterior cortical cataract, ... OMIM:618458
Folate Malabsorption, Hereditary
Reduced blood folate concentration OMIM:229050
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Syndactyly, Hyperactivity, Cryptorchidism, Broad palm, Hypoplastic nipples, Clinodactyly of the 5... OMIM:618505
Long Qt Syndrome 8
Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... OMIM:618447
Schimmelpenning-Feuerstein-Mims Syndrome
Hyperphosphaturia, Corneal opacity, Short stature, Abnormal toe morphology, Abnormal finger morph... OMIM:163200
Weill-Marchesani Syndrome 4
Iridodonesis, Short stature, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the... OMIM:613195
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Growth delay, High serum calcitriol, Short stature ORPHA:157215
Zttk Syndrome
Aortic regurgitation, Absent gallbladder, Unilateral lung agenesis, Depressed nasal bridge, Polyu... OMIM:617140
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Neurogenic bladder, Optic nerve hypoplasia, Hip dislocation, Dysphagia, Abnormal repetitive manne... ORPHA:572013
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Small earlobe, Corneal opacity, Hearing impairment, Aplasia of the distal phalanx of the 5th toe,... ORPHA:364577
Ayme-Gripp Syndrome
Pericarditis, Posteriorly rotated ears, Short stature, Hearing impairment, Tapered finger, Sensor... OMIM:601088
Bile Acid Synthesis Defect, Congenital, 4
Decreased circulating calcifediol concentration, Decreased circulating vitamin E concentration OMIM:214950
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypoplasia of penis, Brachydactyly, Genu valgum, Abnormal metacarpal morphology, Short distal pha... ORPHA:1295
Dietary Iron Overload Disease
Low levels of vitamin C, Abnormal heart morphology ORPHA:139507
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly, Abnormality of retinal pigmentation, Supernumerary nipple, Patchy atrophy of t... ORPHA:1433
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ... ORPHA:1896
Renal Tubular Dysgenesis
Anuria, Pulmonary hypoplasia, Hypotension OMIM:267430
Atypical Werner Syndrome
Micrognathia, Fasting hyperinsulinemia, Finger clinodactyly, Premature arteriosclerosis, Short pa... ORPHA:79474
Non-Distal Deletion 10Q
Clinodactyly of the 5th finger, Overlapping fingers, Bilateral single transverse palmar creases, ... ORPHA:1581
Elsahy-Waters Syndrome
Delayed eruption of teeth, Anal stenosis, Cataract, Hypospadias, Posteriorly rotated ears, Bilate... OMIM:211380
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Aggressive behavior, Vascular granular osmiophilic material deposition, Astigmatis... ORPHA:168491
Intellectual Developmental Disorder, Autosomal Dominant 57
Posteriorly rotated ears, Short stature, Contracture of the proximal interphalangeal joint of the... OMIM:618050
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Retinal dystrophy, Optic nerve hypoplasia, Anophthalmia, C... OMIM:610125
Cowden Syndrome
Abnormal penis morphology, Cataract, Short stature, Abnormality of the kidney, Hearing impairment... ORPHA:201
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Overlapping toe, Ventricular septal defect, Proteinuria, Cerebral hemorrhage, Hiatus hernia, Inte... OMIM:616682
Familial Multiple Lipomatosis
Bowing of the long bones, Functional intestinal obstruction, Coloboma, Chorioretinitis, Abnormal ... ORPHA:199276
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Anteverted ears, Syndactyly, Clinodactyly OMIM:618087
Proximal Renal Tubular Acidosis
Mild postnatal growth retardation, Bicarbonaturia, Nephrocalcinosis, Coloboma, Aminoaciduria, Low... ORPHA:47159
Grange Syndrome
Syndactyly, Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Finger cli... OMIM:602531
Cutis Laxa, Autosomal Recessive, Type Iic
Bilateral cryptorchidism, Nephrocalcinosis, High palate, Atrial septal defect, Micropenis, Patent... OMIM:617402
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Posterior subcap... OMIM:271510
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Short neck, Cone-shaped epiphyses of the phalanges of the ha... ORPHA:420794
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Abnormality of the liver, Bacterial endocarditis,... ORPHA:97214
Short Stature With Microcephaly And Distinctive Facies
Syndactyly, Short digit, Severe short stature, Proximal placement of thumb, Talipes equinovarus, ... OMIM:615789
Pycnodysostosis
Short stature, Aplastic clavicle, Delayed eruption of primary teeth, Persistence of primary teeth... OMIM:265800
Corneodermatoosseous Syndrome
Severe short stature, Corneal dystrophy, Abnormality of the hand, Hearing impairment, Abnormal fi... ORPHA:3194
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Sensorineural hearing i... OMIM:605432
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Abnormal blood folate concentration, Decreased CSF 5-methyltetrahydrofolate concentration OMIM:613839
Trichorhinophalangeal Syndrome, Type Ii
Chronic gastritis, Bicuspid aortic valve, Single transverse palmar crease, Cerebral arteriovenous... OMIM:150230
Cutis Laxa, Autosomal Recessive, Type Iiib
Prominent superficial veins, Cataract, Posteriorly rotated ears, Pyloric stenosis, Prominent ear ... OMIM:614438
Proteasome-Associated Autoinflammatory Syndrome 2
Clinodactyly, Brachydactyly OMIM:618048
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Decreased heart rate variability, Cryptorchidism, Increased femoral anteversion, Hi... OMIM:619005
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Decreased methylcobalamin OMIM:250940
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Short distal phalanx of finger, Brachytelomesophalangy ORPHA:1547
Pili Torti-Onychodysplasia Syndrome
Abnormal pinna morphology, Cleft palate, Cutaneous syndactyly, Palmoplantar keratoderma, Conjunct... ORPHA:2890
Developmental And Epileptic Encephalopathy 6B
Abnormal repetitive mannerisms OMIM:619317
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Intellectual Developmental Disorder, Autosomal Recessive 78
Optic neuropathy, Sensorineural hearing impairment, High palate, Clinodactyly of the 5th finger, ... OMIM:620237
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Neurogenic bladder, Congenital hip dislocation, Urinary incontinence, Fractures of the long bones... ORPHA:496641
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Fanconi Renotubular Syndrome 2
High serum calcitriol, Short stature OMIM:613388
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms, Gastroesophageal reflux ORPHA:85277
Hyperprolinemia Type 2
Reduced circulating vitamin B6 level ORPHA:79101
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Posteriorly rotated ears, Down-sloping shoulders, Proportionate short stature, Metata... OMIM:227330
Orthostatic Hypotension 1
Orthostatic hypotension, Atrial fibrillation, Reduced circulating prolactin concentration, High p... OMIM:223360
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat... ORPHA:2929
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... OMIM:300106
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Postnatal growth retardation, Abnormal repetitive mannerisms, Abnormal fingertip morphology ORPHA:529965
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval, Aganglionic megacolon, Short stature, Aggressive behavior, Ileus, Underfol... OMIM:300352
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Decreased circulating vitamin E concentration ORPHA:79303
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad hallux phalanx, Abnormal penis morphology, Hypospadias, P... ORPHA:2211
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Polydipsia, Short stature, Decreased response to growth hormone st... ORPHA:293987
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Macrotia, Abnormal repetitive mannerisms, Bruxism OMIM:618004
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Meacham Syndrome
Hypoplasia of penis, Crossed fused renal ectopia, Abnormality of the spleen, Patent ductus arteri... ORPHA:3097
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Rhizomelia, Hypospadias, Sclerocornea, Cataract, 2-3 toe syndactyly, Microcornea, C... OMIM:615877
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Posteriorly rotated ears, Down-sloping shoulders, Short stature, Long neck, Sh... ORPHA:1974
Wolfram Syndrome
Gastrointestinal hemorrhage, Diabetes mellitus, Dysuria, Malabsorption, Abnormal mesentery morpho... ORPHA:3463
Bloom Syndrome
Syndactyly, Postnatal growth retardation, Cryptorchidism, Recurrent upper respiratory tract infec... OMIM:210900
Developmental And Epileptic Encephalopathy 100
Recurrent respiratory infections, Single transverse palmar crease, Protruding tongue, Bilateral c... OMIM:619777
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Decreased resp... OMIM:147250
Costello Syndrome
Hyperextensibility of the finger joints, Redundant neck skin, Limited elbow movement, Short neck,... OMIM:218040
Hereditary Acrokeratotic Poikiloderma
Abnormality of the gastrointestinal tract, Finger syndactyly, Short stature, Camptodactyly of fin... ORPHA:2907
Niemann-Pick Disease, Type C2
Hepatomegaly, CNS foam cells, Bone-marrow foam cells, Splenomegaly, Jaundice, Prolonged neonatal ... OMIM:607625
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Short stature, Intraventricular hemorrhage, Sensorineural hearing impairment, Low-set... OMIM:616430
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Equinus calcaneus, Repetitive compulsive behavior, 2-3 toe syndactyly, Self-biting, Gastroesophag... ORPHA:522077
Foxg1 Syndrome Due To 14Q12 Microdeletion
Protruding ear, Growth delay, Abnormal antihelix morphology, Macroglossia, Gastroesophageal reflu... ORPHA:261144
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Esophageal stenosis, Microtia, Congenital pyloric atresia OMIM:619817
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Mixed hearing impairment, Low-set ears, Thickened helices, Overfolded helix, Brachydactyly OMIM:608624
Rapp-Hodgkin Syndrome
Syndactyly, Hypospadias, Short stature, Supernumerary nipple, 2-3 toe cutaneous syndactyly, Velop... OMIM:129400
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Abnormality of the ureter, P... ORPHA:3253
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Raynaud phenomenon, Telangiectasia, Pulmonary fibrosis, Nasal s... OMIM:615934
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Single transverse palmar crease, Rectal prolapse, Thick ... OMIM:303600
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Prominent nasal bridge, Underdeveloped nasal alae, Splenomeg... ORPHA:163746
Hypophosphatemic Rickets, X-Linked Recessive
Bowing of the legs, High serum calcitriol, Femoral bowing, Tibial bowing, Fibular bowing, Metaphy... OMIM:300554
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, A... ORPHA:2973
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Pilarowski-Bjornsson Syndrome
Prominent fingertip pads, Postnatal growth retardation, Abnormal repetitive mannerisms OMIM:617682
Autosomal Dominant Cutis Laxa
Redundant neck skin, Dilatation of the ventricular cavity, Protruding ear, Talipes equinovarus, L... ORPHA:90348
Bosma Arhinia Microphthalmia Syndrome
Cataract, Abnormal pinna morphology, Choanal atresia, Absent tragus, Hypogonadotropic hypogonadis... OMIM:603457
Sclerosteosis 1
Syndactyly, Papilledema, 2-3 finger syndactyly, Optic atrophy, Deviation of finger, Abnormal pelv... OMIM:269500
Beckwith-Wiedemann Syndrome
Hepatomegaly, Hepatoblastoma, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Nephrolithias... OMIM:130650
Congenital Bile Acid Synthesis Defect Type 4
Low levels of vitamin K ORPHA:79095
Lowe Oculocerebrorenal Syndrome
Wrist swelling, Bicarbonaturia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight prote... OMIM:309000
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Bowed humerus, Hypospadias, Posteriorly rotated ears, Short long b... OMIM:619479
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Abnormality of retinal pigmentation, Short stature, Anorexia, Abnormal mitral ... ORPHA:1969
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovag... ORPHA:3016
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Decreased methylcobalamin, Hearing impairment OMIM:617780
Multiple Synostoses Syndrome 4
Otosclerosis, Overlapping toe, Tarsal synostosis, Brachydactyly OMIM:617898
Hartsfield Syndrome
Syndactyly, Hypospadias, Posteriorly rotated ears, Alobar holoprosencephaly, Cryptorchidism, Gona... OMIM:615465
Hypobetalipoproteinemia, Familial, 1
Decreased circulating vitamin E concentration OMIM:615558
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Tracheal atresia ORPHA:3346
Dent Disease 1
Bowing of the legs, High serum calcitriol, Femoral bowing, Tibial bowing, Fibular bowing, Metaphy... OMIM:300009
Rett Syndrome, Congenital Variant
Tongue thrusting, Protruding ear, Gastroesophageal reflux, Talipes equinovarus, Bruxism, Abnormal... OMIM:613454
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Growth delay, Low levels of vitamin D, Dilated cardiomyopathy, Delayed puberty ORPHA:89842
Craniosynostosis 2
Cleft soft palate, Triphalangeal thumb, Brachydactyly OMIM:604757
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Abnormal vitamin B12 level, Decreased adenosylcobalamin, Dehydration OMIM:251100
Barber-Say Syndrome
Delayed eruption of teeth, Absent nipple, Extra concha fold, Hearing impairment, Cryptorchidism, ... OMIM:209885
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Cryptorchidism, Microphallus, Micropenis, Macrotia, Abnormal repetitive mannerisms... OMIM:300486
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Pericardial effusion, Cryptorchidism, Recurrent upper respiratory tract infections, Hem... OMIM:618183
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Dilated cardiomyopathy, Growth delay, Abnormality of vitamin metabolism, Delayed puberty, Low lev... ORPHA:79408
Hydroxykynureninuria
Tachycardia, Congenital sensorineural hearing impairment, Renal tubular acidosis, Hypotension, Ab... ORPHA:79155
Hypotonia, Ataxia, And Delayed Development Syndrome
Small earlobe, Posteriorly rotated ears, Short stature, Tapered finger, Cryptorchidism, Overfolde... OMIM:617330
Blepharocheilodontic Syndrome 2
Cutaneous syndactyly OMIM:617681
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... OMIM:184253
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Gastrointestinal dysmotility, Protruding ear, Gastroesophageal reflux, ... ORPHA:500150
Autism, Susceptibility To, 3
Restrictive behavior, Ketonuria, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Developmental And Epileptic Encephalopathy 2
Tapered finger, Small hand, Short foot, Gastroesophageal reflux, Abnormal repetitive mannerisms OMIM:300672
Refractory Celiac Disease
Low serum calcitriol ORPHA:398063
Monosomy 22
Low-set, posteriorly rotated ears, Finger syndactyly, Aplasia of the thymus, Single transverse pa... ORPHA:96123
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Narrow nasal bridge, Left ventricular noncompaction cardiomyopathy, Prominent nose... OMIM:300967
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty... OMIM:119100
Kindler Epidermolysis Bullosa
Urethral stricture, Finger syndactyly, Corneal opacity, Camptodactyly of finger, Phimosis, Esopha... ORPHA:2908
Imerslund-GrƤsbeck Syndrome
Malabsorption of Vitamin B12, Vitamin B12 deficiency, Abnormal blood 5-methyltetrahydrofolate level ORPHA:35858
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypospadias, Supernumerary nipple, Tapered finger, Short thumb, Cryptorchidism, Chordee, Clinodac... ORPHA:477993
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, Chronic irritative conjunctivitis, Absent nipple, Submucous cleft sof... ORPHA:69085
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Recurrent respiratory infections, Tricuspid regurgitation, Tachycardia, Right ventr... ORPHA:99125
Nasolacrimal Duct Cyst
Nasal congestion, Corneal astigmatism, Deviated nasal septum, Chronic irritative conjunctivitis ORPHA:141083
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Hyperactivity, Posteriorly rotated ears, Short stature, Hiatus hernia, Aggressive beha... OMIM:614756
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Urethrovesical occlusion, Esophageal atresia, Axillary pterygium, Congenital pyloric atresia OMIM:226730
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Clubbing, Multiple gastric polyps, Hematochezia, Colon ... OMIM:174900
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Decreased adenosylcobalamin, Decreased methylcobalamin OMIM:277410
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventricular septal defect, Metatarsus adductus, Repetitive compulsive behavior, Osteopathia stria... ORPHA:513456
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... ORPHA:263665
Pyruvate Dehydrogenase E2 Deficiency
Low levels of vitamin B1 ORPHA:79244
Infantile Nephropathic Cystinosis
Dehydration, Abnormality of vitamin D metabolism ORPHA:411629
Intellectual Developmental Disorder, Autosomal Dominant 38
Aggressive behavior, Hair-pulling, Self-injurious behavior, High palate, Talipes equinovarus, Low... OMIM:616393
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Congenital pyloric atresia, Hydronephrosis, Hem... ORPHA:79403
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertrophic cardiomyopathy, Decreased circulating vitamin E concentration, Abnormality of amino ... ORPHA:309854
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Proximal phalangeal periosteal thickening, Gastric hypertrophy, Clubbing, Osteolytic defects of t... OMIM:161700
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Submucous cleft soft pal... ORPHA:1071
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Cataract, Micrognathia, Hydrocephalus, Optic atrophy, Buphthalmos, Coloboma, Hyp... OMIM:253280
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Con... ORPHA:220460
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect, Self-injurious behavior, Sensorineural hearing impairment, Abnormal repetit... ORPHA:457351
Chondrodysplasia Punctata, Autosomal Dominant
Low levels of vitamin K, Moderate postnatal growth retardation OMIM:118650
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
High serum calcitriol OMIM:211900
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Congenital pyloric atresia, Abnormality of the urina... ORPHA:158684
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... ORPHA:325345
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Low levels of vitamin D, Delayed eruption of permanent teeth ORPHA:79259
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly, Hepatomegaly, Mild postnatal growth retardation, Splenomegaly, Prolonged neonatal jau... OMIM:224120
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms, Urinary incontinence ORPHA:168782
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Supernumerary nipple, Unilateral brachydactyly, Low posterior hairline, High palate, ... ORPHA:1521
Epidermal Nevus Syndrome
Low levels of vitamin D ORPHA:35125
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatoblastoma, Vesicoureteral reflux, Posterior helix pit, Nephropathy, Hy... ORPHA:116
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
High serum calcitriol OMIM:617994
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Decreased adenosylcobalamin, Dehydration OMIM:251110
Ataxia With Vitamin E Deficiency
Decreased circulating vitamin E concentration OMIM:277460
Klippel-Trenaunay-Weber Syndrome
Syndactyly, Macrodactyly, Hand oligodactyly, Hand polydactyly, Arteriovenous fistula OMIM:149000
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Vitamin B12 deficiency, Polyhydramnios, Hearing impairment OMIM:618922
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Single transverse palmar crease, Ovotestis, Cryptorchidism, ... ORPHA:199310
Cleft Lip And Alveolus
Abnormal nasal morphology, Abnormal nasal septum morphology, Dysphagia ORPHA:141291
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Cryptorchidism, Split hand, Cleft palate, Popliteal pterygium ORPHA:1300
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics OMIM:619725
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Recurrent respiratory infections, Hyperactivity, Urinary incontinence, Hair-pulling, Protruding e... ORPHA:447997
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Decreased adenosylcobalamin, Decreased methylcobalamin, Low-set ears, Mac... OMIM:277400
Yellow Fever
Shock, Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating aspartate aminotrans... ORPHA:99829
Rett Syndrome
Agitation, Abnormal repetitive mannerisms, Cholecystitis, Stereotypical hand wringing ORPHA:778
Rajab Interstitial Lung Disease With Brain Calcifications 1
Growth delay, Intrauterine growth retardation, Low levels of vitamin D, Short stature OMIM:613658
Pearson Syndrome
Hydrops fetalis, Dehydration, Abnormal heart morphology, Corneal stromal edema, Cardiomyopathy, M... ORPHA:699
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:610042
Usher Syndrome, Type Ig
Sensorineural hearing impairment, Rod-cone dystrophy, Hypoplasia of the nasal bone OMIM:606943
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Short stature, Patent ductus arteriosus, Abnorm... ORPHA:438213
Multiple Myeloma
Pleural effusion, Abnormality of vitamin B12 metabolism ORPHA:29073
Dent Disease
High serum calcitriol, Metaphyseal irregularity, Bowing of the legs ORPHA:1652
Primrose Syndrome
Bilateral cryptorchidism, High palate, Tics, Posterior polar cataract, Abnormal repetitive manner... OMIM:259050
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Abnormal repetitive mannerisms, Urinary incontinence, Attention deficit hyperactivity disorder ORPHA:98784
Juvenile Nephropathic Cystinosis
Low levels of vitamin D, Dehydration ORPHA:411634
Megaloblastic Anemia, Folate-Responsive
Vitamin B12 deficiency OMIM:601775
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Transcobalamin Ii Deficiency
Abnormal blood folate concentration OMIM:275350
Adult Syndrome
Finger syndactyly, Toe syndactyly, Absent nipple, Split foot, Hypoplastic nipples, Breast hypoplasia ORPHA:978
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Acute Transverse Myelitis
Nuchal rigidity, Vitamin B12 deficiency ORPHA:139417
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypospadias, External genital hypoplasia, Ovotestis, Palmoplantar keratoderma, Palmoplantar hyper... OMIM:610644
Congenital Erythropoietic Porphyria
Low levels of vitamin D, Nonimmune hydrops fetalis, Edema ORPHA:79277
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Leydig cell neoplasia, Ovarian serous cystaden... ORPHA:1359
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Autoimmune Lymphoproliferative Syndrome
Abnormal vitamin B12 level, Hydrops fetalis ORPHA:3261
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Adrenomyeloneuropathy
Vitamin B12 deficiency ORPHA:139399
Nmda Receptor Encephalitis
Ovarian teratoma, Orthostatic hypotension, Hypersexuality, Neoplasm of the lung, Agitation, Testi... ORPHA:217253

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 Rdh10

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 Rdh10.

There are 17 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Retinoic Acid Deficiency Underlies the Etiology of Midfacial Defects. Journal of dental research (January 2022) Rdh10tm1c(KOMP)Wtsi Rdh10tm1a(KOMP)Wtsi 35001679
Synergistic role of retinoic acid signaling and Gata3 during primitive choanae formation. Human molecular genetics (November 2021) Rdh10tm1c(KOMP)Wtsi 34272563
Retinoic acid exerts sexually dimorphic effects on muscle energy metabolism and function. The Journal of biological chemistry (August 2021) Rdh10tm1d(KOMP)Wtsi PMC8441203
Branchiomeric Muscle Development Requires Proper Retinoic Acid Signaling. Frontiers in cell and developmental biology (July 2021) Rdh10tm1c(KOMP)Wtsi PMC8299418
Retinoic acid synthesis and autoregulation mediate zonal patterning of vestibular organs and inner ear morphogenesis. Development (Cambridge, England) (August 2020) Rdh10tm1c(KOMP)Wtsi Rdh10tm1d(KOMP)Wtsi 32665247
RDH1 suppresses adiposity by promoting brown adipose adaptation to fasting and re-feeding. Cellular and molecular life sciences : CMLS (February 2019) Rdh10tm1d(KOMP)Wtsi 30788515
RDH10-mediated retinol metabolism and RARĪ±-mediated retinoic acid signaling are required for submandibular salivary gland initiation. Development (Cambridge, England) (August 2018) Rdh10tm1c(KOMP)Wtsi Rdh10tm1a(KOMP)Wtsi Rdh10tm1d(KOMP)Wtsi 29986869
Modest Decreases in Endogenous All-trans-Retinoic Acid Produced by a Mouse Rdh10 Heterozygote Provoke Major Abnormalities in Adipogenesis and Lipid Metabolism. Diabetes (January 2018) Rdh10tm1a(KOMP)Wtsi Rdh10tm1d(KOMP)Wtsi 29321172
The role of retinol dehydrogenase 10 in the cone visual cycle. Scientific reports (May 2017) Rdh10tm1c(KOMP)Wtsi PMC5443843
Rdh10 loss-of-function and perturbed retinoid signaling underlies the etiology of choanal atresia. Human molecular genetics (April 2017) Rdh10tm1c(KOMP)Wtsi PMC5390677
Transcription factor TLX1 controls retinoic acid signaling to ensure spleen development. The Journal of clinical investigation (May 2016) Rdh10tm1c(KOMP)Wtsi Rdh10tm1a(KOMP)Wtsi PMC4922703
Conditional Ablation of Retinol Dehydrogenase 10 in the Retinal Pigmented Epithelium Causes Delayed Dark Adaption in Mice. The Journal of biological chemistry (September 2015) Rdh10tm1c(KOMP)Wtsi PMC4646373
Retinoic acid regulates embryonic development of mammalian submandibular salivary glands. Developmental biology (August 2015) Rdh10tm1a(KOMP)Wtsi PMC4641807
Wnt8a and Wnt3a cooperate in the axial stem cell niche to promote mammalian body axis extension. Developmental dynamics : an official publication of the American Association of Anatomists (April 2015) Rdh10tm1d(KOMP)Wtsi PMC4449298
Investigation of retinoic acid function during embryonic brain development using retinaldehyde-rescued Rdh10 knockout mice. Developmental dynamics : an official publication of the American Association of Anatomists (July 2013) Rdh10tm1a(KOMP)Wtsi Rdh10tm1d(KOMP)Wtsi PMC3877746
Retinol dehydrogenase 10 is indispensible for spermatogenesis in juvenile males. Proceedings of the National Academy of Sciences of the United States of America (December 2012) Rdh10tm1c(KOMP)Wtsi PMC3545805
RDH10 oxidation of Vitamin A is a critical control step in synthesis of retinoic acid during mouse embryogenesis. PloS one (February 2012) Rdh10tm1c(KOMP)Wtsi Rdh10tm1a(KOMP)Wtsi Rdh10tm1d(KOMP)Wtsi PMC3271098

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
Rdh10tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Rdh10tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Rdh10tm1e(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