Gene Summary

intraflagellar transport 122
C86139,  Wdr10,  sopb

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal behavior Ift122tm1a(EUCOMM)Wtsi HET Early adult 1.52×10-06
hypoactivity Ift122tm1a(EUCOMM)Wtsi HET Early adult 4.06×10-06
long tibia Ift122tm1a(EUCOMM)Wtsi HET Early adult 1.49×10-06
increased mean corpuscular volume Ift122tm1a(EUCOMM)Wtsi HET   Early adult 2.65×10-07

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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 Ift122 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.

The table below shows human diseases associated to Ift122 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Ift122 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Craniofacial Conodysplasia
Spinal cord compression, Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand ORPHA:85168
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Polydactyly, Postaxial, Type A10
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly OMIM:618498
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Acrocephalopolysyndactyly Type Iv
Hand polydactyly, Camptodactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Ulnar devi... OMIM:201020
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Oslam Syndrome
Abnormality of neutrophils, Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean... ORPHA:2760
Nevus Comedonicus Syndrome
Spina bifida, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida occulta ORPHA:64754
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux OMIM:234280
Polydactyly, Preaxial Iv
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... OMIM:174700
Congenital Absence Of Upper Arm And Forearm With Hand Present
Stillbirth, Upper limb phocomelia, Polydactyly, Abnormal heart morphology, Syndactyly, Abnormal h... ORPHA:294975
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Foot oligodactyly, Clinodactyly, Syndactyly, Hand oligodactyly, ... OMIM:183600
Czeizel-Losonci Syndrome
Thickened nuchal skin fold, 2-3 finger syndactyly, Spina bifida, 1-2 finger syndactyly, Hydroceph... ORPHA:2437
Split-Hand/Foot Malformation 4
Split hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the phalange... OMIM:605289
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Hunter-Macdonald Syndrome
Long neck, Cubitus valgus, Aortic regurgitation, Camptodactyly, 2-3 toe syndactyly, Patent ductus... OMIM:611962
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Split hand, Cutaneous finger syndactyly, Split foot, Spina bifida occulta, Myelomeningocele, Hydr... OMIM:183802
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Cystic hygroma, Preaxial polydactyly, Postaxial polydactyly, Hypoplastic ischia, Syndactyly, Brac... OMIM:617866
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Postaxial hand polydactyly, Finger syndactyly, Symphalangism affecting t... ORPHA:1892
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short hallux, Overlapping fingers, Postaxial polydactyly, Adducted thumb, Short distal phalanx of... OMIM:618167
Mend Syndrome
Overlapping fingers, Long neck, Thickened nuchal skin fold, Hand polydactyly, Overlapping toe, Ab... ORPHA:401973
Bardet-Biedl Syndrome 7
Polydactyly OMIM:615984
Fibular Hemimelia
Hip subluxation, Bowing of the legs, Abnormality of fibula morphology, Arthralgia of the hip, Pro... ORPHA:93323
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Melnick-Needles Syndrome
Long neck, Genu valgum, Talipes equinovarus, Limited elbow extension, Stillbirth, Mitral valve pr... OMIM:309350
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot, Hand oligodactyly OMIM:225300
Triphalangeal Thumbs With Brachyectrodactyly
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Brachydactyly, Short 2nd finger OMIM:190680
Aphalangy-Syndactyly-Microcephaly Syndrome
Camptodactyly of finger, Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short... ORPHA:1113
Hydrolethalus Syndrome 2
Postaxial polydactyly, Preaxial polydactyly, Hydrocephalus, Anencephaly OMIM:614120
Orofaciodigital Syndrome Xviii
Genu valgum, Short middle phalanx of finger, Preaxial polydactyly, Postaxial polydactyly, Short d... OMIM:617927
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Split foot, Toe syndactyly, Cleft palate OMIM:183700
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Greig Cephalopolysyndactyly Syndrome
Postaxial hand polydactyly, Broad thumb, Preaxial hand polydactyly, Toe syndactyly, Finger syndac... ORPHA:380
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Camptodactyly Syndrome, Guadalajara, Type I
Long neck, Cubitus valgus, Scapular winging, Short metatarsal, Toe syndactyly, High palate, Hypop... OMIM:211910
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small thenar eminence, Small hypothenar eminence, Spina bifida, Mitral valve prolapse, Camptodact... OMIM:211960
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Biemond Syndrome Type 2
Preaxial polydactyly, Hydrocephalus ORPHA:141333
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Bardet-Biedl Syndrome 22
Polydactyly OMIM:617119
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Broad toe, Preaxial foot polydactyly, 1-2... OMIM:186350
Split-Hand/Foot Malformation 2
Short phalanx of finger, Finger syndactyly, Split hand, Split foot, Short metacarpal OMIM:313350
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot, Cleft pa... DECIPHER:46
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Split foot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... OMIM:156500
Elliptocytosis 3
Chronic hemolytic anemia, Elliptocytosis, Decreased mean corpuscular volume, Pyropoikilocytosis OMIM:617948
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Mucopolysaccharidosis, Type Vi
Hip dysplasia, Genu valgum, Macroglossia, Metaphyseal irregularity, Flared iliac wing, Abnormal h... OMIM:253200
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Short thumb, Increased mean corpuscular volume, Triphalangeal thumb,... OMIM:612561
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Dystonia, Lethargy, Megaloblastic anemia, Spastic ataxia, Increased mean corpuscular volume OMIM:277410
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Ventricular septal defect, Aplasia/Hypoplasia of the radius, Anencephaly, Gastrosch... ORPHA:2476
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Mosaic Trisomy 20
Long neck, Ventricular septal defect, Dysplastic tricuspid valve, Abnormal mitral valve morpholog... ORPHA:1724
Faciodigitogenital Syndrome, Autosomal Recessive
Long neck, Narrow palate, Broad palm, Camptodactyly, Down-sloping shoulders, Metatarsus adductus,... OMIM:227330
Acropectorovertebral Dysplasia
Camptodactyly of finger, Spina bifida, Tarsal synostosis, Broad thumb, Synostosis of carpal bones... ORPHA:957
Ring Chromosome 4 Syndrome
Split hand, Abnormality of the upper limb, Aplasia/Hypoplasia of the radius, Abnormality of the ulna ORPHA:1447
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Broad thumb, Radioulnar synostosis, Fing... ORPHA:392
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... ORPHA:3246
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal widening, Broad tibial metaphyses, Aplasia/Hypoplasia of metatarsal bones, Short palm... ORPHA:2502
Congenital Dyserythropoietic Anemia Type Iii
Abnormal erythrocyte morphology, Anisocytosis, Anemia, Increased mean corpuscular volume, Poikilo... ORPHA:98870
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Bardet-Biedl Syndrome 6
Polydactyly, Syndactyly OMIM:605231
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Acrorenal Syndrome
Abnormality of tibia morphology, Split hand, Aplasia/Hypoplasia of the radius, Cleft palate, Abno... ORPHA:971
Tetramelic Monodactyly
Split hand, Hand monodactyly, Foot monodactyly, Split foot OMIM:187510
Methylcobalamin Deficiency Type Cble
Lethargy, Neutropenia, Pancytopenia, Clinodactyly, Syndactyly, Increased mean corpuscular volume,... ORPHA:2169
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Proximal placement of hallux, Preaxial foot polydactyly, Absent middle phalanx of 5th finger, Abs... OMIM:218530
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive
Split hand, Tapered finger, Split foot OMIM:220600
Cooks Syndrome
Split hand, Triphalangeal thumb, Broad thumb, Brachydactyly ORPHA:1487
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Split hand, Camptodactyly, Syndactyly, Joint contracture of the hand OMIM:225280
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Split hand, Talipes equinovarus, Brachydactyly, Ectrodactyly OMIM:612576
Mucopolysaccharidosis, Type Ii
Macroglossia, Cervical cord compression, Abnormal heart valve morphology, Split hand, Umbilical h... OMIM:309900
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Charlie M Syndrome
Finger syndactyly, Split hand, Abnormality of the metacarpal bones, Triphalangeal thumb, Brachyda... ORPHA:1406
Focal Dermal Hypoplasia
Split hand, Iris coloboma, Omphalocele, Patent ductus arteriosus, Short clavicles, Hypoplastic pe... ORPHA:2092
Occipital Horn Syndrome
Long neck, Genu valgum, Hiatus hernia, Limited elbow extension, Orthostatic hypotension, Short hu... OMIM:304150
Postaxial Tetramelic Oligodactyly
Oligodactyly, Abnormality of the metacarpal bones, Ectrodactyly, Abnormality of finger ORPHA:2730
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split hand, Hand monodactyly, Split foot OMIM:183800
Ulnar Hemimelia
Radial club hand, Short forearm, Spinal dysraphism, Duplication of phalanx of 3rd finger, Aplasia... ORPHA:93320
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Oligodactyly, Tarsal... ORPHA:2756
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormality of the ulna ORPHA:1118
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate
Split hand, Split foot OMIM:129810
Split-Hand And Split-Foot With Hypodontia
Split hand, Split foot OMIM:183500
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Long neck, Large hands, High palate, Arachnodactyly, Hydrocephalus OMIM:617011
Greig Cephalopolysyndactyly Syndrome
Postaxial hand polydactyly, Broad thumb, 1-3 toe syndactyly, Preaxial hand polydactyly, Camptodac... OMIM:175700
Holoprosencephaly, Spina bifida, Postaxial hand polydactyly, Hydrocephalus ORPHA:945
Mmep Syndrome
Triphalangeal thumb, Split foot, Ventricular septal defect ORPHA:3434
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Split hand, Ulnar claw, Hypotrophy of the small hand muscles, High palate, Hammertoe OMIM:607684
Moebius Syndrome
Short phalanx of finger, Split hand, Camptodactyly, High palate, Dysphagia, Aplasia/Hypoplasia in... OMIM:157900
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Inguinal hernia, Syndactyly, Cleft palate, Small placenta, Clinodactyly of the 5th f... ORPHA:397590
Otofaciocervical Syndrome 1
Long neck, Down-sloping shoulders, Scapular winging OMIM:166780
Autosomal Recessive Faciodigitogenital Syndrome
Long neck, Finger syndactyly, Down-sloping shoulders, Short foot, High palate, Clinodactyly of th... ORPHA:1974
Phocomelia, Schinzel Type
Radial bowing, Hypoplasia of the radius, Abnormality of tibia morphology, Humeroradial synostosis... ORPHA:2879
Biemond Syndrome Ii
Preaxial hand polydactyly, Hydrocephalus OMIM:210350
Hirsutism, Skeletal Dysplasia, And Mental Retardation
Long neck, Down-sloping shoulders, Coxa valga OMIM:142625
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Split hand, Aplasia of metacarpal bones OMIM:106900
Mucolipidosis Ii Alpha/Beta
Flared iliac wing, Split hand, Carpal bone hypoplasia, Flat acetabular roof, Bullet-shaped phalan... OMIM:252500
Ectrodactyly-Cleft Palate Syndrome
Split hand, Cleft palate OMIM:129830
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Elbow dislocation, Congenital muscular torticollis, Intestinal malrotation, Abnormal... ORPHA:2538
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Split hand, Hammertoe OMIM:605726
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Webbed neck, Cleft palate, Brachydactyly, Micromelia ORPHA:2145
Postaxial Oligodactyly, Tetramelic
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... OMIM:176240
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Atrial septal defect, Ventricular septal defect, Preaxial polydactyly, Paten... OMIM:618142
Trisomy 13
Cystic hygroma, Postaxial hand polydactyly, Atrial septal defect, Ventricular septal defect, Iris... ORPHA:3378
Ivic Syndrome
Small thenar eminence, Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb ... OMIM:147750
Finnish Upper Limb-Onset Distal Myopathy
Split hand, Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Joint contract... ORPHA:399086
Adams-Oliver Syndrome
Absent hand, Gastrointestinal hemorrhage, Finger syndactyly, Split hand, Esophageal varix, Short ... ORPHA:974
Opitz-Kaveggia Syndrome
Broad thumb, Narrow palate, Split hand, Camptodactyly, Intestinal malrotation, Prominent fingerti... OMIM:305450
Hartsfield Syndrome
Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, Cleft palate ORPHA:2117
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Autosomal Dominant Spastic Paraplegia Type 17
Split hand, Hand muscle weakness, Hand muscle atrophy ORPHA:100998
Charcot-Marie-Tooth Disease And Deafness
Split hand, Hammertoe OMIM:118300
Fatco Syndrome
Absent hand, Abnormality of tibia morphology, Tarsal synostosis, Finger syndactyly, Split hand, A... ORPHA:2492
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Limb Defects, Distal Transverse, With Mental Retardation And Spasticity
Split hand OMIM:246555
Carpenter Syndrome
Genu valgum, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger syndactyly, Polydact... ORPHA:65759
Eem Syndrome
Ectrodactyly, Finger syndactyly ORPHA:1897
Charcot-Marie-Tooth Disease, Type 4B2
Talipes equinovarus, Split hand, Hammertoe, Ulnar claw OMIM:604563
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Split foot, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius ORPHA:1122
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anisocytosis, Anemia, Splenomegaly, Decreased mean corpuscula... OMIM:616860
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular volume, Hepatosplenomegaly OMIM:611590
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Split hand, Ulnar claw OMIM:606595
Otopalatodigital Syndrome Type 2
Short hallux, Camptodactyly of finger, Fibular aplasia, Tarsal synostosis, Elbow dislocation, Fla... ORPHA:90652
Isolated Klippel-Feil Syndrome
Spina bifida, Short neck, Ventricular septal defect, Webbed neck, Congenital muscular torticollis... ORPHA:2345
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Preaxial hand polydactyly, Abnormal thumb morphology, Anomalous pulmonary venous re... ORPHA:1120
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Acropectorovertebral Dysplasia
Broad thumb, Toe syndactyly, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal ... OMIM:102510
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Myelopathy OMIM:602475
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Split hand, Hammertoe, Distal upper limb amyotrophy OMIM:614455
Majeed Syndrome
Microcytic anemia, Erythroid hyperplasia, Anemia of inadequate production, Decreased mean corpusc... OMIM:609628
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Short humerus, Abnormality of t... ORPHA:2491
Polydactyly, Holoprosencephaly, Preaxial polydactyly, Natal tooth, Postaxial polydactyly, Sandal ... OMIM:612651
Solitary Bone Cyst
Abnormal ilium morphology, Prominent calcaneus, Abnormality of tibia morphology, Abnormality of t... ORPHA:83468
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Complete duplication of the 1st metatarsal, Clinodactyly of the 5th finger, Preaxial polydactyly OMIM:129540
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Split hand, Hammertoe, Ulnar claw OMIM:118220
Charcot-Marie-Tooth Disease Type 4D
Split hand, Hammertoe, Distal upper limb muscle weakness, Upper limb amyotrophy ORPHA:99950
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Talipes equinovarus, Split hand OMIM:607831
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Long neck, High palate, Arachnodactyly, Communicating hydrocephalus ORPHA:457359
Myopathy, Distal, 3
Split hand, Joint contracture of the hand OMIM:610099
Hypertrophic Neuropathy Of Dejerine-Sottas
Split hand, Hammertoe, Ulnar claw OMIM:145900
2Q31.1 Microdeletion Syndrome
Abnormality of tibia morphology, Coloboma, Optic disc coloboma, Broad hallux phalanx, Iris colobo... ORPHA:251014
Jackson-Weiss Syndrome
Short metatarsal, Toe syndactyly, Broad metatarsal, Broad hallux phalanx, 2-3 toe syndactyly, Pre... ORPHA:1540
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Limb Body Wall Complex
Short umbilical cord, Iris coloboma, Anencephaly, Spina bifida occulta, Aplasia/hypoplasia involv... ORPHA:2369
Split-Hand/Foot Malformation 3
High palate, Split hand, Camptodactyly, Cleft palate OMIM:246560
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Short femur, Atrial septal defect, Split hand, Hypoplastic ... ORPHA:1860
Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly
Split hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Short metatarsal, Type B brac... OMIM:106990
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hip dysplasia, Rocker bottom foot, Talipes equinovarus, Abnormal anterior horn cell morphology, P... OMIM:611890
Aplasia Cutis Congenita
Spinal dysraphism, Toe syndactyly, Finger syndactyly ORPHA:1114
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Streaky metaphyseal sclerosis, Genu valgum, Dislocated radial head, Broad distal phalanx of finge... OMIM:603546
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Broad long bone diaphyses, Metaphyseal irregularity, Flared iliac wing, ... OMIM:300106
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormality of the tibial metaphysis, Tibial bowing ORPHA:2768
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Fin... ORPHA:2378
Cardiomegaly OMIM:227150
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Short finger, Syndactyly, Split foot, Hypoplasia of the ulna OMIM:314360
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Split hand OMIM:607706
Shwachman-Diamond Syndrome
Metaphyseal widening, Metaphyseal chondrodysplasia, Abnormality of finger, Metaphyseal irregulari... ORPHA:811
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Split hand OMIM:617882
Duane-Radial Ray Syndrome
Small thenar eminence, Radial deviation of the hand, Hypoplasia of the radius, Atrial septal defe... OMIM:607323
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Acrocardiofacial Syndrome
Camptodactyly of finger, Atrial septal defect, Toe syndactyly, Truncus arteriosus, Finger syndact... ORPHA:2008
Limb-Mammary Syndrome
Split hand, Camptodactyly, Syndactyly, Split foot, Joint contracture of the hand, Cleft palate, B... OMIM:603543
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Alopecia-Intellectual Disability Syndrome
Split hand, Brachydactyly ORPHA:2850
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Split hand, Hypoplasti... OMIM:609945
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Split hand OMIM:616688
Brown-Vialetto-Van Laere Syndrome 2
Dysphagia, Split hand OMIM:614707
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Split hand, Hammertoe, Ulnar claw OMIM:118200
Meckel Syndrome, Type 2
Postaxial hand polydactyly, Polydactyly, Bowing of the long bones, Anencephaly, Meningocele OMIM:603194
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Diamond-Blackfan Anemia 7
Neutropenia, Short thumb, Increased mean corpuscular volume, Triphalangeal thumb, Macrocytic anemia OMIM:612562
Coloboma Of Macula With Type B Brachydactyly
Coloboma, Bifid distal phalanx of the thumb, Type B brachydactyly, Broad distal phalanx of the th... OMIM:120400
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibial bowing, Coxa vara, Wadd... OMIM:602111
X-Linked Intellectual Disability, Siderius Type
Preaxial hand polydactyly, Low posterior hairline, Large hands ORPHA:85287
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Clinodactyly, Iris coloboma, Ectrodactyly, Cleft palate OMIM:147950
Bardet-Biedl Syndrome 4
Polydactyly, Syndactyly, Brachydactyly OMIM:615982
Dermatoosteolysis, Kirghizian Type
Split hand, Joint contracture of the hand OMIM:221810
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Arrhythmia, Upper limb phocomelia, Hypoplasia of the ulna, Short humerus, Aplas... ORPHA:2878
Branchiogenic-Deafness Syndrome
Short distal phalanx of finger, Branchial fistula, Branchial cyst OMIM:609166
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Abnormal tricuspid valve morphology, Diastomatomyelia, Intestinal malrot... ORPHA:1759
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Arrhythmia, Radioulnar synostosis, Elbow dislocation, Split hand, Short... OMIM:171480
Acromelic Frontonasal Dysostosis
Polydactyly, Talipes equinovarus, Preaxial polydactyly, Syndactyly OMIM:603671
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Pentalogy Of Cantrell
Abnormality of tibia morphology, Atrial septal defect, Ventricular septal defect, Split hand, Omp... ORPHA:1335
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Postaxial hand polydactyly, Preaxial foot polydactyly ORPHA:2091
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hand polydactyly, Enlarged kidney, Short humerus, Absent radius, Anal atresia, Isomerism, Atriove... OMIM:314390
Mucopolysaccharidosis Type 1
Abnormality of epiphysis morphology, Abnormal heart valve morphology, Split hand, Abnormal aortic... ORPHA:579
Isolated Split Hand-Split Foot Malformation
Oligodactyly, Absent hand, Aniridia, Finger syndactyly, Split hand ORPHA:2440
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Postaxial hand polydactyly, Preaxial foot polydactyly, Bilateral triphalangeal thumbs OMIM:138790
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Preaxial polydactyly, Postaxial polydactyly, Anencephaly, Aplastic clavicle... OMIM:616546
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Cantu Syndrome
Short hallux, Erlenmeyer flask deformity of the femurs, Hypoplastic ischiopubic rami, Short neck,... OMIM:239850
Mend Syndrome
Overlapping fingers, Overlapping toe, Polydactyly, 2-3 toe syndactyly, Hydrocephalus, Long fingers OMIM:300960
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Léri-Weill Dyschondrosteosis
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... ORPHA:240
Congenital Neuronal Ceroid Lipofuscinosis
Split hand ORPHA:168486
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia OMIM:188740
Focal Dermal Hypoplasia
Aniridia, Short metatarsal, Short phalanx of finger, Congenital hip dislocation, Split hand, Inte... OMIM:305600
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Hip dysplasia, Proximal placement of thumb, Increased mean corpuscular volume ORPHA:261250
Humero-Radial Synostosis
Chorioretinal coloboma, Tarsal synostosis, Elbow dislocation, Iris coloboma, Elbow ankylosis, Men... ORPHA:3265
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Finger syndactyly, Branchial cyst, Camptodactyly, Single transverse palmar crease, Tapered finger ORPHA:435938
Poland Syndrome
Absent hand, Atrial septal defect, Hand polydactyly, Short neck, Low posterior hairline, Finger s... ORPHA:2911
Carpenter Syndrome 1
Flared iliac wing, Camptodactyly, Patent ductus arteriosus, Metatarsus adductus, Spina bifida occ... OMIM:201000
Partial Atrioventricular Septal Defect
Atrial flutter, Patent ductus arteriosus, Coronary sinus enlargement, Double outlet right ventric... ORPHA:1330
Wahab Syndrome
Camptodactyly, Short foot, Clinodactyly, Syndactyly, Short thumb, Short metacarpal, Adducted thum... OMIM:615170
Pelvis-Shoulder Dysplasia
Dislocated radial head, Camptodactyly of finger, Spina bifida, Mesomelic/rhizomelic limb shorteni... ORPHA:2839
Schisis Association
Spina bifida, Omphalocele, Anencephaly, Anal atresia, Cleft palate, Tracheoesophageal fistula, Mi... ORPHA:63862
Orofaciodigital Syndrome Vi
Preaxial hand polydactyly, Toe syndactyly, Central Y-shaped metacarpal, Preaxial foot polydactyly... OMIM:277170
Infantile Sialic Acid Storage Disease
Metaphyseal irregularity, Hepatomegaly, Congestive heart failure, Cardiomegaly, Splenomegaly, Hig... OMIM:269920
Absent Radius-Anogenital Anomalies Syndrome
Oligodactyly, Hypoplasia of the radius, Hydrocephalus, Perineal fistula, Rectovaginal fistula, An... ORPHA:3016
Bardet-Biedl Syndrome 19
Polydactyly OMIM:615996
Bardet-Biedl Syndrome 9
Postaxial hand polydactyly, Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial foot polyda... OMIM:615986
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect OMIM:235750
Autosomal Recessive Robinow Syndrome
Broad thumb, Elbow dislocation, Split hand, Broad hallux phalanx, Bilateral single transverse pal... ORPHA:1507
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle atrophy, Hand muscle weakness, Abnormal lower motor neuron morphology OMIM:607641
Renpenning Syndrome
Abnormal thumb morphology, Iris coloboma, Anal atresia, Cleft palate, High, narrow palate, Clinod... ORPHA:3242
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the radius, Finger syndactyly, Split hand, Hypoplastic scapulae... ORPHA:958
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Short phalanx of finger, Postaxial polydactyly, Limb undergrowth, Short distal ... OMIM:617102
Spondylometaphyseal Dysplasia, Sedaghatian Type
Talipes equinovarus, Short toe, Short phalanx of finger, Metaphyseal irregularity, Flared iliac w... OMIM:250220
Charcot-Marie-Tooth Disease, Type 4A
Split hand, Hammertoe, Ulnar claw OMIM:214400
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postaxial polydac... OMIM:613091
Blepharocheilodontic Syndrome 1
Cutaneous syndactyly, Clinodactyly, Neural tube defect OMIM:119580
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Preaxial polydactyly, Postaxial polydactyly, Short long bone, Syndacty... OMIM:615503
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Narrow palate, Split hand, Phocomelia, High palate, Elbow flexion contractu... OMIM:276820
Multicentric Osteolysis, Nodulosis, And Arthropathy
Metaphyseal widening, Protrusio acetabuli, Metatarsal osteolysis, Widened metacarpal shaft, Campt... OMIM:259600
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Spina bifida, Cubitus valgus, Toe syndactyly, Scapular winging, Short di... ORPHA:1327
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Absent forearm, Split hand, Hand monodactyly, Split foot, Patellar ap... OMIM:119100
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology OMIM:183020
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Short 4th metacarpal, Short 3rd toe, Short 3rd metacarpal, Intrinsic hand muscle atrophy, Split h... OMIM:618569
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Interphalangeal joint contracture of finger, Preaxial hand polydactyly OMIM:606242
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Finger syndactyly, Ventricular septal defect, Holoprosencephaly, Spinal d... ORPHA:1908
X-Linked Mandibulofacial Dysostosis
Webbed neck, Pulmonic stenosis, Branchial anomaly, Abnormal mitral valve morphology ORPHA:1131
Heart-Hand Syndrome, Slovenian Type
Aplasia of the middle phalanx of the hand, Clinodactyly, Syndactyly, Dilated cardiomyopathy, Brac... OMIM:610140
Rhizomelic Syndrome, Urbach Type
Preaxial hand polydactyly, Short neck, Abnormality of epiphysis morphology, Rhizomelia, Abnormali... ORPHA:3098
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Adactyly, Upper limb phocomelia, Finger syndactyly, Split hand, Ap... ORPHA:989
Thalidomide Embryopathy
Radial club hand, Preaxial hand polydactyly, Upper limb phocomelia, Split hand, Aplasia/hypoplasi... ORPHA:3312
Distal Limb Deficiencies-Micrognathia Syndrome
Oligodactyly, Tarsal synostosis, Aplasia/Hypoplasia of the radius, Abnormality of the metacarpal ... ORPHA:1307
Smith-Lemli-Opitz Syndrome
Split hand, Iris coloboma, Patent ductus arteriosus, Abnormality of the metacarpal bones, Short n... ORPHA:818
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Dystonia, Elliptocytosis, Reticulocytosis, Anisocytosis, Decreased mean... OMIM:618278
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Talipes equinovarus, Split hand OMIM:604168
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Timothy Syndrome
Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus, Syndactyly, Cardiomega... OMIM:601005
Aminopterin Syndrome Sine Aminopterin
Umbilical hernia, Rudimentary postaxial polydactyly of hands, Clinodactyly, Syndactyly, Inguinal ... OMIM:600325
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Coloboma, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenos... OMIM:220210
Meckel Syndrome, Type 3
Polydactyly, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly OMIM:607361
Macroglossia, Finger syndactyly, Holoprosencephaly, Intestinal malrotation, Iris coloboma, Omphal... ORPHA:3376
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Bardet-Biedl Syndrome 17
Polydactyly, Brachydactyly, Mesoaxial polydactyly OMIM:615994
Caudal Duplication
Spina bifida, Spinal cord lesion, Omphalocele, Intestinal duplication, Myelomeningocele ORPHA:1756
Abruzzo-Erickson Syndrome
Chorioretinal coloboma, Atrial septal defect, Toe syndactyly, Radioulnar synostosis, Coloboma, Ir... ORPHA:921
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Reticulocytopenia, Anisopoikilocytosis, Dysplastic erythropoesis, Anemia, Decreased mean corpuscu... ORPHA:300298
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Camptodactyly of finger, Intrinsic hand muscle atrophy, Split hand, Weakness of the intrinsic han... ORPHA:324442
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Branchiogenic Deafness Syndrome
Short distal phalanx of finger, Branchial fistula, Osteolytic defects of the distal phalanges of ... ORPHA:50815
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology, Dysphagia OMIM:611637
Anophthalmia Plus Syndrome
Spina bifida, Iris coloboma, Bilateral cleft lip and palate, Cleft palate, Deviation of finger ORPHA:1104
Orofaciodigital Syndrome Xvii
Clubbing of fingers, Central Y-shaped metacarpal, Polydactyly, Short middle phalanx of the 2nd fi... OMIM:617926
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Preaxial hand polydactyly, Short metatarsal, Broad thumb, Short metacarpal, Bra... ORPHA:1278
Joubert Syndrome 18
Polydactyly, Camptodactyly OMIM:614815
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Bifid sternum, Myelomeningocele ORPHA:63260
Spina bifida, Sirenomelia, Aplasia/Hypoplasia of the radius, Anal atresia, Tracheoesophageal fistula ORPHA:3169
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Short phalanx of finger, Micromelia, Short finger, Metaphyseal cupping, Shor... OMIM:250215
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Preaxial hand polydactyly OMIM:601420
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Syndactyly, Hydrocephalus, Ventricular septal defect OMIM:602501
Hypertrichotic Osteochondrodysplasia, Cantu Type
Short hallux, Low posterior hairline, Finger syndactyly, Abnormal heart valve morphology, Broad h... ORPHA:1517
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Genu valgum, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231226
Trisomy 4P
Radial club hand, Short neck, Preaxial hand polydactyly, Camptodactyly of finger ORPHA:1738
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Beta-Thalassemia Major
Hypochromic microcytic anemia, Genu valgum, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Refractory Anemia With Excess Blasts
Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Anemia of inadequate production, Abnormal... ORPHA:86839
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Metaphyseal irregularity, Bowing of the long bones, Tibial bowing... OMIM:600785
Meckel Syndrome, Type 8
Polydactyly, Talipes equinovarus, Postaxial hand polydactyly OMIM:613885
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Aortic regurgitation, Split hand, Carpal bone hypoplasia, Short long bone... OMIM:252600
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Wolf-Hirschhorn Syndrome
Short hallux, Hypoplastic pubic rami, Preaxial hand polydactyly, Low posterior hairline, Atrial s... ORPHA:280
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure, Hydrocephalus, Atrial flutter OMIM:300886
Acrorenal Syndrome, Autosomal Recessive
Split hand, Clinodactyly, Split foot, Radial deviation of finger OMIM:201310
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Cardiomegaly, Palmoplantar keratoderma OMIM:613576
Nephronophthisis 15
Polydactyly OMIM:614845
Orofaciodigital Syndrome Type 6
Hand polydactyly, Central Y-shaped metacarpal, Mesoaxial polydactyly, Finger clinodactyly, Abnorm... ORPHA:2754
15Q24 Microdeletion Syndrome
Abnormal thumb morphology, Myelomeningocele, Coloboma, Abnormal heart morphology, Clinodactyly, S... ORPHA:94065
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Low posterior hairline, Complete atrioventricular canal defect, Preaxial polydactyly, Natal tooth... OMIM:617925
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Preaxial hand polydactyly, Broad thumb, Exencephaly, Finger syndactyly, Broad hallux phalanx ORPHA:2211
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial polydactyly OMIM:617127
Lambotte Syndrome
Semilobar holoprosencephaly, Preaxial foot polydactyly, Ventricular septal defect OMIM:245552
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Dysphagia ORPHA:247604
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Talipes equinovarus, Abnormal lower motor neuron morphology, Joint contracture of the hand OMIM:611067
Microphthalmia, Syndromic 8
Split foot, Cleft palate OMIM:601349
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormality of the metaphysis, Lymphopenia, Anemia, Long fibula ORPHA:935
Mosaic Trisomy 9
Elbow dislocation, Intestinal malrotation, Patent ductus arteriosus, Dextrocardia, High palate, S... ORPHA:99776
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Short hallux, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the h... ORPHA:157801
Cystic hygroma, Rocker bottom foot, Spina bifida, Rhizomelia, Holoprosencephaly, Spinal dysraphis... ORPHA:63259
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Split hand, Duodenal atresia, Foot polydactyly, Phocomelia ORPHA:3004
Mohr Syndrome
Partial duplication of the phalanges of the hallux, Preaxial hand polydactyly, Postaxial hand pol... OMIM:252100
Meier-Gorlin Syndrome 7
Atrial septal defect, Ventricular septal defect, Complete atrioventricular canal defect, Preaxial... OMIM:617063
Carpenter Syndrome 2
Atrial septal defect, Broad thumb, Situs inversus totalis, Webbed neck, Camptodactyly, Preaxial p... OMIM:614976
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Squared iliac bones, Metaphyseal cupping, Hypertension, Hypoplastic ischia, Iliac crest serration... OMIM:613320
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Mulibrey Nanism
Myocardial fibrosis, Iris coloboma, Hepatomegaly, Microglossia, Congestive heart failure, Cardiom... OMIM:253250
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Caffey Disease
Periosteal thickening of long tubular bones, Bowing of the legs, Tibial bowing OMIM:114000
Brachyolmia Type 3
Proximal femoral metaphyseal irregularity, Radial deviation of finger, Spinal cord compression, C... OMIM:113500
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
High palate, Congestive heart failure, Cardiomegaly OMIM:618654
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Abnormality of the palmar creases, Coloboma, Ventricular septal defect, Pat... OMIM:618652
Trisomy 18
Camptodactyly of finger, Spina bifida, Postaxial hand polydactyly, Narrow palate, Atrial septal d... ORPHA:3380
Wolf-Hirschhorn Syndrome
Malrotation of small bowel, Split hand, Iris coloboma, Metatarsus adductus, Short thumb, Low post... OMIM:194190
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Iris coloboma, Clinodactyly, Syndactyly, Brachydactyly OMIM:610023
Hand polydactyly, Congenital finger flexion contractures, Syndactyly, Short toe, Brachydactyly OMIM:114150
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Narrow palate, Short neck, Ventricular septal defect, High palate, Omphaloce... OMIM:617022
Vater/Vacterl Association
Spina bifida, Hypoplasia of the radius, Radioulnar synostosis, Ventricular septal defect, Preaxia... OMIM:192350
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Talipes equinovarus, Sh... OMIM:274000
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Coloboma, Ventricular septal defect, Holoprosencephaly, Foot oligodactyly, Bilateral... OMIM:601357
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Erythroid hyperplasia, I... ORPHA:231222
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hand muscle weakness, Paresis of extensor muscles of the big toe, Triceps weakness, Abnormality o... ORPHA:99947
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Sandal gap, Shoulder dislocation, Metatarsus adductus, Cardiomegaly, Patent foramen ovale, Mitral... OMIM:245600
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h... OMIM:602433
Wildervanck Syndrome
Short neck, Webbed neck, Meningocele, Lens subluxation, Low posterior hairline ORPHA:3456
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Squared iliac bones, Hypoplastic pelvis, Rhizomelia, Preaxial polydactyly, Natal tooth, Postaxial... OMIM:616300
Fountain Syndrome
Spina bifida, Large hands, Short distal phalanx of finger, Coarse metaphyseal trabecularization, ... ORPHA:3219
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Joubert Syndrome 23
Polydactyly OMIM:616490
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palat... ORPHA:3426
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Low posterior hairline, Overlapping toe, Ventricular septal defect, Camptod... OMIM:300963
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Clinodactyly of the 5th finger, Upper limb asymmetry ORPHA:231140
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the radius, Hand polydactyly, Toe syndactyly, Narrow palate, Sp... OMIM:200980
Hypomelia With Mullerian Duct Anomalies
Split hand, Postaxial hand polydactyly OMIM:146160
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Metaphyseal irregularity, Carpal bone hypoplasia, Irregular epiphyses, Narrow iliac wing, Ataxia,... OMIM:610442
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Atrial septal defect, Stillbirth, Ventricular septal defect, Duplicati... OMIM:263630
Joubert Syndrome 20
Syndactyly, Postaxial polydactyly OMIM:614970
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... OMIM:610713
Distal 22Q11.2 Microdeletion Syndrome
Camptodactyly of finger, Atrial septal defect, Toe syndactyly, Truncus arteriosus, Ventricular se... ORPHA:261330
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Aplas... OMIM:200500
Jacobsen Syndrome
Broad hallux phalanx, Intestinal malrotation, Iris coloboma, Toe clinodactyly, Short neck, Webbed... ORPHA:2308
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Short neck, Ventricular septal defect, Webbed neck, Limb undergrowth, Decreased fibu... OMIM:616897
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Hypoplastic ischia OMIM:616910
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Chorioretinal coloboma, Low posterior hairline, Short neck, Cervical spina bifida OMIM:600122
Chiari Malformation Type Ii
Spina bifida, Dysphagia, Cervical myelopathy, Syringomyelia, Myelomeningocele, Hydrocephalus OMIM:207950
Eec Syndrome
Toe syndactyly, Finger syndactyly, Split hand, Xerostomia, Aplasia/Hypoplasia of the thumb, Split... ORPHA:1896
Ciliary Dyskinesia, Primary, 14
Absent inner dynein arms, Abnormal axonemal organization of respiratory motile cilia, Situs inver... OMIM:613807
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Broad metacarpals, Flared iliac w... OMIM:271665
Greenberg Dysplasia
Epiphyseal stippling, Short phalanx of finger, Intestinal malrotation, Omphalocele, Sandal gap, A... OMIM:215140
Joubert Syndrome 10
Postaxial polydactyly OMIM:300804
Pelger-Huet Anomaly
Short 4th metacarpal, Short 3rd metacarpal, Upper limb undergrowth, Ventricular septal defect, Po... OMIM:169400
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Short long bone, Brachydactyly, Postaxial polydactyly OMIM:615633
Brachydactyly, Type B1
Broad thumb, Ventricular septal defect, Short middle phalanx of finger, Aplasia/Hypoplasia of the... OMIM:113000
Amyotrophic Lateral Sclerosis 2, Juvenile
Dysphagia, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper ... OMIM:205100
Bardet-Biedl Syndrome 8
Polydactyly, Situs inversus totalis OMIM:615985
Spondylometaphyseal Dysplasia, Sedaghatian Type
Metaphyseal chondrodysplasia, Short palm, Cone-shaped epiphysis, Rhizomelic arm shortening, Iliac... ORPHA:93317
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Coloboma, Iris coloboma, Short neck, Preaxial hand polydactyly, Truncus arteriosus, ... ORPHA:508498
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Short long bone, Brachydactyly OMIM:613819
Au-Kline Syndrome
Hip dysplasia, Deep palmar crease, Postaxial polydactyly, Overlapping toe OMIM:616580
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid ... ORPHA:324410
Meckel Syndrome, Type 4
Postaxial hand polydactyly, Atrial septal defect, Ventricular septal defect, Bowing of the long b... OMIM:611134
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of long bone morphology, Amyotrophic lateral sclerosis, Abnormal motor neuron morphol... ORPHA:52430
Cerebrocostomandibular Syndrome
Spina bifida, Myelomeningocele, Ventricular septal defect, Webbed neck, Meningocele, Hydranenceph... ORPHA:1393
Hand polydactyly, Branchial anomaly, Ventricular septal defect, Holoprosencephaly, Spinal dysraph... ORPHA:2162
Joubert Syndrome 17
Polydactyly, Syndactyly OMIM:614615
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Gastrointestinal atresia, Abnormality of long bone morphology, Polydac... ORPHA:1505
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Hypoplastic scapulae, Bowing of the long bones, Postaxial polydactyly, Mesomelia, Sh... OMIM:614091
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Hydrocephalus ORPHA:858
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Esophageal varix, Umbilical hernia, Pulmonic stenosis, Inguinal ... OMIM:616028
Developmental And Epileptic Encephalopathy 95
Cystic hygroma, Short 4th metacarpal, Macroglossia, Short fourth metatarsal, Umbilical hernia, Sh... OMIM:618143
Lethal Acantholytic Erosive Disorder
2-3 finger syndactyly, 4-5 finger syndactyly, Camptodactyly of toe, 3-4 finger syndactyly, Impair... ORPHA:158687
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hip dysplasia, Cystic hygroma, Atrial septal defect, Branchial anomaly, Abnormal heart morphology... ORPHA:453499
Keratoderma Hereditarium Mutilans
Honeycomb palmoplantar hyperkeratosis, Autoamputation of digits, Abnormality of the spinal cord ORPHA:494
Congenital Sialidosis Type 2
Abnormal heart morphology, Polydactyly, Telangiectasia, Umbilical hernia, Hepatomegaly, Protrudin... ORPHA:93400
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism, Macrodactyly, Sandal gap, Splenomegaly, Tethered cord OMIM:612918
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Short 4th metacarpal, Spina bifida, Cardiac rhabdomyoma, Ca... OMIM:109400
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:614373
Acrocallosal Syndrome
Coloboma, Rectovaginal fistula, High palate, Pulmonary valve defects, Preaxial hand polydactyly, ... OMIM:200990
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Syncope, Hepatomegaly, Left bundle branch block, A... OMIM:115197
Stromme Syndrome
Preaxial polydactyly, Hydrocephalus, Stillbirth OMIM:243605
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Acral ulceration, Abnormality of the spinal cord ORPHA:139578
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Postaxial polydactyly, Double outlet ... OMIM:217095
Meckel Syndrome, Type 10
Postaxial polydactyly, Anencephaly OMIM:614175
Cloacal Exstrophy
Absent foot, Spina bifida, Abnormality of tibia morphology, Intestinal malrotation, Omphalocele, ... ORPHA:93929
Joubert Syndrome 16
Polydactyly OMIM:614465
Joubert Syndrome 15
Polydactyly OMIM:614464
Trisomy 20P
Camptodactyly of finger, Spina bifida, Preaxial hand polydactyly, Low posterior hairline, Finger ... ORPHA:261318
Bardet-Biedl Syndrome 3
Brachydactyly, Postaxial polydactyly OMIM:600151
Trisomy 1Q
Cystic hygroma, Camptodactyly of finger, Preaxial hand polydactyly, Toe syndactyly, Ventricular s... ORPHA:261344
Neu-Laxova Syndrome 1
Short umbilical cord, Camptodactyly, Patent ductus arteriosus, Patent foramen ovale, Short neck, ... OMIM:256520
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Toe syndactyly, Finger syndactyly, Elbow dislocation, Patent ductus arteriosus, Aplasia/Hypoplasi... ORPHA:1112
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Abnormal motor neuron morphology, Azoospermia OMIM:613724
Femoral-Facial Syndrome
Hip dysplasia, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, Aplasia/Hypoplasia ... ORPHA:1988
Autosomal Dominant Popliteal Pterygium Syndrome
Split hand, Cleft palate, Toe syndactyly, Finger syndactyly ORPHA:1300
3P25.3 Microdeletion Syndrome
2-3 finger syndactyly, Atrial septal defect, Broad thumb, Overlapping toe, Ventricular septal def... ORPHA:435638
Nail-Patella Syndrome
Limited elbow extension, Spina bifida, Triceps aplasia, Biceps aplasia, Hypoplastic radial head, ... OMIM:161200
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Syndacty... ORPHA:79094
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly, Patent ductus arteriosus, Cardiomegaly, Pulmonary arterial hypertension, Mitral va... OMIM:602782
Distal 22Q11.2 Microduplication Syndrome
Camptodactyly of finger, Toe syndactyly, Camptodactyly of toe, Ventricular septal defect, Branchi... ORPHA:261337
Hartsfield Syndrome
Syndactyly, Ectrodactyly, Lobar holoprosencephaly, Cleft palate OMIM:615465
Holt-Oram Syndrome
Secundum atrial septal defect, Patent ductus arteriosus, Partial duplication of thumb phalanx, Ab... OMIM:142900
Branchiootorenal Syndrome 1
Branchial fistula, Congenital hip dislocation, Branchial cyst OMIM:113650
Orofaciodigital Syndrome I
Myelomeningocele, Tongue nodules, Polydactyly, Abnormal heart morphology, Hypertension, Radial de... OMIM:311200
Amish Lethal Microcephaly
Hepatomegaly, Cleft soft palate, Spina bifida ORPHA:99742
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Stillbirth, Preaxial foot polydactyly, Mirror image foot polydactyly, Patellar hypo... OMIM:119800
Hemochromatosis, Type 1
Arrhythmia, Azoospermia, Hepatocellular carcinoma, Hepatomegaly, Congestive heart failure, Cardio... OMIM:235200
Curry-Jones Syndrome
Cutaneous syndactyly of toes, Preaxial hand polydactyly, Broad thumb, Coloboma, Anal stenosis, In... OMIM:601707
Suleiman-El-Hattab Syndrome
Atrial septal defect, Ventricular septal defect, Polydactyly, Webbed neck, Single transverse palm... OMIM:618950
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
20P13 Microdeletion Syndrome
Polydactyly, Clinodactyly, Brachydactyly, Finger syndactyly ORPHA:313781
Neuraminidase Deficiency
Epiphyseal stippling, Hepatomegaly, Inguinal hernia, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect, Foot oligodactyly, Esophageal varix, Tricuspid reg... OMIM:616589
9Q21.13 Microdeletion Syndrome
Polydactyly, Hip dysplasia, Syringomyelia ORPHA:531151
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Refsum Disease, Classic
Arrhythmia, Short fourth metatarsal, Congestive heart failure, Cardiomegaly, Cardiomyopathy OMIM:266500
Fanconi Anemia
Patent ductus arteriosus, High palate, Abnormality of the ulna, Triphalangeal thumb, Duodenal ste... ORPHA:84
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Arrhythmia, Narrow palate, Tapered toe, Enlarged kidney, Hepa... OMIM:608836
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydactyly, Finger syndactyly... ORPHA:2753
Yunis-Varon Syndrome
Slender long bones with narrow diaphyses, Metatarsus adductus, Cardiomegaly, Pulmonary arterial h... ORPHA:3472
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Hypoplastic ilia, Postaxial polydactyly, Syndactyly, Brachydactyly, Mic... OMIM:617895
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Mental Retardation, Autosomal Dominant 23
Broad distal phalanx of finger, Postaxial polydactyly, Sandal gap OMIM:615761
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Dysphagia OMIM:606353
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Colitis ORPHA:88643
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Semilobar holoprosencephaly, Hand polydactyly, Toe syndactyly, Split hand, Xerostomia, Rectovagin... OMIM:129900
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Abnormal tricuspid valve morphology, Mitral atresia... OMIM:616749
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hip dysplasia, Cystic hygroma, Atrial septal defect, Branchial anomaly, Abnormal heart morphology... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hip dysplasia, Cystic hygroma, Atrial septal defect, Branchial anomaly, Abnormal heart morphology... ORPHA:352665
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Aortic regurgitation, Hypovolemia, Subarachnoid hemorrhage, Patent ductus arteri... ORPHA:91387
Familial Atrial Myxoma
Cardiac myxoma, Tricuspid regurgitation, Pulmonic valve myxoma, Congestive heart failure, Heart m... ORPHA:615
Acrocephalopolysyndactyly Type Iii
Preaxial hand polydactyly, Broad thumb, Short neck, Lower limb undergrowth, Syndactyly, Broad hallux OMIM:101120
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Dysphagia, Abnormal lower motor neuron morphology, Abnorm... ORPHA:275872
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly, Single transverse palmar crease, Prominent fingertip pads, Brachydactyly, Shor... ORPHA:466950
Hamamy Syndrome
Hip dysplasia, Atrial septal defect, Dysphagia, Down-sloping shoulders, Webbed neck, Clinodactyly... OMIM:611174
Short phalanx of finger, Finger syndactyly, Polydactyly, Aganglionic megacolon, Esophageal atresi... ORPHA:59315
Retinitis Pigmentosa 89
Hepatosplenomegaly, Postaxial polydactyly, Esophageal varix, Bicuspid aortic valve OMIM:618955
Bor Syndrome
Branchial cyst ORPHA:107
Acromelic Frontonasal Dysplasia
Preaxial foot polydactyly, Meningocele, Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Tal... ORPHA:1827
Adult Syndrome
Toe syndactyly, Split hand, Split foot OMIM:103285
Split hand, Microglossia, Adactyly, Aglossia OMIM:103300
D-Bifunctional Protein Deficiency
Split hand, High palate, Hepatomegaly, Splenomegaly, Talipes equinovarus, Hammertoe OMIM:261515
Hemifacial Microsomia
Branchial anomaly, Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Hydr... OMIM:164210
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Spinal dysraphism, Aortic valve stenosis, Hypoplastic left heart, Mitral st... OMIM:617660
Symptomatic Form Of Hemochromatosis Type 1
Arrhythmia, Hepatocellular carcinoma, Elevated jugular venous pressure, Hepatomegaly, Congestive ... ORPHA:465508
Carnitine Deficiency, Systemic Primary