Gene Summary

bone morphogenetic protein 7
osteogenic protein 1,  OP1

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
increased circulating phosphate level Bmp7tm1a(EUCOMM)Hmgu HET Early adult 9.25×10-05
increased monocyte cell number Bmp7tm1a(EUCOMM)Hmgu HET Early adult 1.12×10-05
increased mean corpuscular volume Bmp7tm1a(EUCOMM)Hmgu HET Early adult 5.40×10-05

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Viewing: all phenotypes

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 Bmp7 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 Bmp7 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Vesicoureteral Reflux 3
Vesicoureteral reflux, Hydronephrosis, Hydroureter OMIM:613674
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Congenital Primary Megaureter
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... ORPHA:617
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Otodental Syndrome
Progressive sensorineural hearing impairment, Delayed eruption of teeth, Carious teeth, Abnormal ... ORPHA:2791
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume, Hy... ORPHA:90044
Duplicated collecting system, Ureterocele OMIM:191650
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Cleft Lip/Palate
Agenesis of lateral incisor, Abnormal number of permanent teeth, Conductive hearing impairment, R... ORPHA:199306
Otodental Dysplasia
Long philtrum, Pulp calcification, Taurodontia, Hypodontia, Sensorineural hearing impairment, Ant... OMIM:166750
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Joubert Syndrome 22
Postaxial hand polydactyly, Coloboma, Renal hypoplasia, 2-3 toe syndactyly, Retinal dysplasia, Mi... OMIM:615665
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Dextrocardia With Unusual Facies And Microphthalmia
Macrotia, Anophthalmia, Vertebral fusion, Microphthalmia, Cleft palate, Micrognathia, Vertebral s... OMIM:221950
Odontochondrodysplasia 1
Scoliosis, Joint hypermobility, Nephronophthisis, Short phalanx of finger, Narrow chest, Flared i... OMIM:184260
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Urethral valve, Recurrent urinary tract infections, Enuresis, ... OMIM:236730
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Nanophthalmos 4
Microphthalmia OMIM:615972
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Thoracic hypoplasia, Preaxial polydactyly, Epicanthus, Postaxial polydactyly, Shor... OMIM:617866
Gombo Syndrome
Clinodactyly, Brachydactyly, Microphthalmia, Radial deviation of finger OMIM:233270
Femoral-Facial Syndrome
Scoliosis, Hip dysplasia, Abnormality of the ribs, Short femur, Long penis, Radioulnar synostosis... ORPHA:1988
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Ureteral agenesis OMIM:274265
Chromosome 22Q11.2 Duplication Syndrome
Abnormality of the pinna, Low-set ears, Depressed nasal ridge, High palate, Micrognathia, Velopha... OMIM:608363
Multiple Epiphyseal Dysplasia, Lowry Type
Scoliosis, Genu valgum, Broad nasal tip, Elbow dislocation, Cleft palate, Micrognathia ORPHA:166016
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Broad nasal tip, Thoracic kyphosis, Synophrys, Cleft lip, Cleft palate, Low posterior hairline OMIM:300263
Trichodentoosseous Syndrome
Widely spaced teeth, Microdontia, Taurodontia, Abnormal hair morphology OMIM:190320
Cleft Velum
Conductive hearing impairment, Recurrent otitis media, Aspiration pneumonia, Cleft soft palate, V... ORPHA:99772
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Hydroureter, Symphalangism affecting the phalanges of the hand, Abnormal... ORPHA:2547
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Cat-Eye Syndrome
Hip dysplasia, Chorioretinal coloboma, Abnormality of the ribs, Iris coloboma, Abnormal localizat... ORPHA:195
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Abnormality of the dentition, Thick eyebrow, Hearing impairment, Gingi... ORPHA:2222
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Increased circulating ferrit... ORPHA:3202
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Jeune Syndrome
Abnormal clavicle morphology, Nephronophthisis, Abnormality of retinal pigmentation, Abnormality ... ORPHA:474
Cerebellofaciodental Syndrome
Scoliosis, Sparse hair, Taurodontia, Macrodontia of permanent maxillary central incisor, Laryngea... OMIM:616202
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of dental morphology, Underdevelope... ORPHA:2025
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Genu valgum, Abnormality of dental morphology, Low-set, posteriorly ro... ORPHA:2972
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Congenital Velopharyngeal Incompetence
Hearing impairment, Velopharyngeal insufficiency, Abnormal palate morphology, Abnormality of the ... ORPHA:2291
Congenital Absence Of Upper Arm And Forearm With Hand Present
Stillbirth, Upper limb phocomelia, Polydactyly, Abnormal thorax morphology, Syndactyly, Small for... ORPHA:294975
Fibromatosis, Gingival, With Distinctive Facies
Gingival fibromatosis, Underdeveloped nasal alae, Everted lower lip vermilion, Thick vermilion bo... OMIM:228560
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Death in infancy, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odon... OMIM:277300
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Orofacial Cleft 15
Agenesis of lateral incisor, Sparse eyebrow, Bulbous nose, High anterior hairline, Bilateral clef... OMIM:616788
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Slender finger, Ve... OMIM:609813
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Anemia, Splenomegaly, Decreased mean c... OMIM:615234
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Sparse hair, Taurodontia OMIM:272980
Liberfarb Syndrome
Scoliosis, Retinal pigment epithelial mottling, Retinal degeneration, Delayed epiphyseal ossifica... OMIM:618889
Senior-Loken Syndrome
Nephronophthisis, Abnormality of retinal pigmentation, Cone-shaped epiphysis, Ataxia, Retinal dys... ORPHA:3156
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Leukopenia, Refractory anemia OMIM:616871
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Finger syndactyly, Pectus carinatum, Abnormality of the elbow, ... ORPHA:3268
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Microphthalmia With Limb Anomalies
Fused fourth and fifth metacarpals, Short nose, Abnormal hair morphology, Deep philtrum, Low-set ... OMIM:206920
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma, Microphthalmia, Anophthalmia OMIM:616428
Intellectual Disability, Birk-Barel Type
Highly arched eyebrow, Short philtrum, Open mouth, Congenital finger flexion contractures, High, ... ORPHA:166108
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Craniosynostosis, Sparse hair, Taurodontia, Everted lower lip ... ORPHA:1515
Tetrasomy 12P
Delayed eruption of teeth, Long philtrum, Sparse hair, Downturned corners of mouth, Abnormal soft... ORPHA:884
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Short iliac bones, Narrow chest, Renal hypoplasia, Rhizomelia, Glomerulonephritis, Cataract, Stag... OMIM:614376
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Small earlobe, Oligodontia, Bulbous nose, Underdeveloped nasal alae, Exaggerated cupid's bow, Syn... ORPHA:364577
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Pallister W Syndrome
Cubitus valgus, Agenesis of central incisor, Agenesis of maxillary central incisor, Wide nasal br... OMIM:311450
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Scoliosis, Abnormality of retinal pigmentation, Heterochromia iridis, Joint hyperflexibility, Dow... ORPHA:1390
Nemaline Myopathy 9
Scoliosis, High palate, Micrognathia, Cleft palate OMIM:615731
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Frontal open bite, Delayed closure of the anterior fontanelle, Wide anterior fontanel, Recurrent ... OMIM:225410
Cardiospondylocarpofacial Syndrome
Scoliosis, Freckling, Tarsal synostosis, Joint laxity, Horseshoe kidney, Upslanted palpebral fiss... OMIM:157800
Scoliosis, Wormian bones, Delayed eruption of primary teeth, Carious teeth, Narrow palate, Absent... OMIM:265800
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Kyphosis, Poliosis, Patchy alopecia, Short mandibular rami, Dental mal... OMIM:141300
Osteogenesis Imperfecta, Type Xii
Scoliosis, Delayed eruption of teeth, Wormian bones, Narrow mouth, High palate, Micrognathia, Mal... OMIM:613849
Mohr Syndrome
Scoliosis, Wormian bones, Accessory oral frenulum, Agenesis of central incisor, Broad nasal tip, ... OMIM:252100
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Polydactyly, Anophthalmia, Microphthalmia, Hyperechogenic kidneys, Ta... OMIM:613885
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Holoprosencephaly, Bilateral microphthalmos, Anophthalmia OMIM:611638
Papillorenal Syndrome
Horseshoe kidney, Renal malrotation, Renal hypoplasia, Retinal coloboma, Lens luxation, Chorioret... OMIM:120330
Lowry-Maclean Syndrome
Delayed eruption of teeth, Craniosynostosis, Convex nasal ridge, Cleft palate OMIM:600252
Fryns Macrocephaly
Short philtrum, Everted lower lip vermilion, Wide mouth, Macrodontia of permanent maxillary centr... OMIM:600302
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Low anterior hairline, Oligodontia, Sparse hair, Bulbous nose, Abnormal form of the ve... ORPHA:1787
48,Xxyy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Scoliosis... ORPHA:10
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Low anterior hairline, Short philtrum, Bulbous nose, Broad nasal tip, Everted lower lip vermilion... ORPHA:411986
Low-set, posteriorly rotated ears, Arrhinencephaly, Tracheal atresia, Anencephaly, Gingival cleft... ORPHA:2189
Atkin-Flaitz Syndrome
Macrotia, Everted lower lip vermilion, Abnormality of the dentition, Thick vermilion border, Maxi... ORPHA:1193
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Fetal megacystis, Hydroureter OMIM:249210
Brachycephaly, Trichomegaly, And Developmental Delay
Highly arched eyebrow, Thin vermilion border, Open mouth, Overfolded helix, Conductive hearing im... OMIM:617412
Thymic Aplasia With Fetal Death
Renal agenesis, Ureteral agenesis OMIM:274210
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Wormian bones, Camptodactyly of finger, Depressed nasal tip, Abnormali... ORPHA:2863
Auriculocondylar Syndrome 3
Laryngeal cleft, Bilateral conductive hearing impairment, Question mark ear, Stenosis of the exte... OMIM:615706
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Neu-Laxova Syndrome 2
Scoliosis, Abnormality of the pinna, Low-set ears, Cleft palate, High palate, Micrognathia, Depre... OMIM:616038
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Generalized microdontia, Taurodontia OMIM:104530
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Hirsutism, Abnormality of the dentition, Synoph... ORPHA:2026
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Adducted Thumbs Syndrome
Craniosynostosis, Hypertrichosis, Cleft palate, High palate, High, narrow palate, Velopharyngeal ... OMIM:201550
Clark-Baraitser syndrome
Scoliosis, Genu valgum, Genu recurvatum, Kyphosis, Maxillary lateral incisor microdontia, Broad n... OMIM:300602
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Apert Syndrome
Delayed eruption of teeth, Convex nasal ridge, Narrow palate, Conductive hearing impairment, Mand... ORPHA:87
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Taurodontia, Abnormal hair quantity, Periapical tooth abscess, Agenesis of in... ORPHA:3352
Pyle Disease
Scoliosis, Delayed eruption of teeth, Carious teeth, Platyspondyly, Limited elbow extension, Genu... OMIM:265900
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Abnormal vertebral morphology, Low-set, posteriorly rotated ears, Thin upper lip verm... ORPHA:2015
Humero-Radio-Ulnar Synostosis
Abnormal thumb morphology, Radioulnar synostosis, Upper limb asymmetry, Elbow ankylosis, Abnormal... ORPHA:3266
Catifa Syndrome
Delayed eruption of teeth, Long philtrum, Tooth malposition, Cleft lip, Increased overbite, Cleft... OMIM:618761
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Nephronophthisis, Abnormality of long bone morphology, Narrow chest, P... ORPHA:1505
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hip dysplasia, Hydroureter, Vesicoureteral reflux, Talipes equinovarus, Clinodactyly of the 5th f... OMIM:617219
Arthrogryposis, Distal, Type 5
Scoliosis, Limited wrist extension, Abnormality of retinal pigmentation, Arthrogryposis multiplex... OMIM:108145
Lowry-Maclean Syndrome
Convex nasal ridge, Delayed eruption of primary teeth, Talon cusp, Craniosynostosis, Short nose, ... ORPHA:2409
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Lateral clavicle hook, Brachydactyly, Narrow chest OMIM:617405
W Syndrome
Cubitus valgus, Elbow dislocation, Agenesis of maxillary central incisor, Abnormality of the scal... ORPHA:2804
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Atkin-Flaitz Syndrome
Scoliosis, Genu valgum, Genu recurvatum, Kyphosis, Maxillary lateral incisor microdontia, Broad n... OMIM:300431
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis, Hand polydactyly OMIM:236110
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Abnormal dental enamel morphology, Thin vermilion border, Long philtru... OMIM:257850
Rapp-Hodgkin Syndrome
Decreased number of sweat glands, Sparse hair, Narrow mouth, Underdeveloped nasal alae, Small, co... OMIM:129400
Kbg Syndrome
Thoracic kyphosis, Rib fusion, Radial deviation of finger, Vertebral fusion, Clinodactyly, Syndac... OMIM:148050
Rubinstein-Taybi Syndrome 2
Convex nasal ridge, Carious teeth, Posterior helix pit, Narrow palate, Hirsutism, Intestinal malr... OMIM:613684
Maxillonasal Dysplasia
Open bite, Scoliosis, Patchy distortion of vertebrae, Short nose, Depressed nasal ridge, Mandibul... ORPHA:1248
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst OMIM:617874
Kniest Dysplasia
Lens luxation, Joint stiffness, Delayed epiphyseal ossification, Short neck, Vertebral wedging, A... ORPHA:485
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Trisomy 13
Abnormality of the ribs, Multiple renal cysts, Postaxial hand polydactyly, Narrow chest, Aplasia/... ORPHA:3378
Bresek Syndrome
Postaxial hand polydactyly, Hypoplasia of the bladder, Renal hypoplasia, Iris coloboma, Renal dys... ORPHA:85284
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Short thorax, Bilateral renal agenesis, Unilateral renal agenesis, Death in infancy, Sacral dimpl... OMIM:618845
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, M... OMIM:613686
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Oculodentodigital Dysplasia
Enamel hypoplasia, Carious teeth, Underdeveloped nasal alae, Slow-growing hair, Vertebral hyperos... OMIM:164200
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Elliptocytosis 3
Chronic hemolytic anemia, Elliptocytosis, Decreased mean corpuscular volume, Pyropoikilocytosis OMIM:617948
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Coffin-Siris Syndrome 10
Wide mouth, Persistence of primary teeth, Laryngomalacia, Posteriorly rotated ears, Low-set ears,... OMIM:618506
Oculofaciocardiodental Syndrome
Scoliosis, Oligodontia, Intestinal malrotation, Peripheral pulmonary artery stenosis, Flexion con... ORPHA:2712
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Oligodontia, Platyspondyly, Joint contracture of the 5th finger, Irregular vertebral... OMIM:601668
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Split hand, Ureteral atresia, Cutaneous finger syndactyly, Hydronephrosis, Split foot, Spina bifi... OMIM:183802
Smith-Magenis Syndrome
Scoliosis, Mandibular prognathia, Morphological abnormality of the middle ear, Abnormality of the... OMIM:182290
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal dysplasia, Renal cyst, Renal agenesis, Abnormality of the kidney OMIM:615993
Coffin-Siris Syndrome 3
Scoliosis, Macroglossia, Sparse hair, Hirsutism, Long eyelashes, Wide mouth, Sparse scalp hair, T... OMIM:614608
Trichorhinophalangeal Syndrome Type 2
Long philtrum, Genu valgum, Bulbous nose, Conductive hearing impairment, Low-set, posteriorly rot... ORPHA:502
Liang-Wang Syndrome
Macroglossia, Downturned corners of mouth, Everted lower lip vermilion, Diastema, Wide mouth, Mac... OMIM:618729
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Short nose, Dental crowding, Conductive hearing impairment, Abnormality of the den... OMIM:616331
Prune Belly Syndrome
Talipes equinovarus, Urogenital sinus anomaly, Congenital hip dislocation, Hydroureter, Pectus ex... ORPHA:2970
Cofs Syndrome
Camptodactyly of finger, Abnormality of retinal pigmentation, Arthrogryposis multiplex congenita,... ORPHA:1466
Meckel Syndrome 13
Flexion contracture, Oculomotor apraxia, Ataxia, Polycystic kidney dysplasia, Retinopathy OMIM:617562
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Wide anterior fontanel, Short middle phalanx of finger, Camptoda... OMIM:113000
Anophthalmia Plus Syndrome
Spina bifida, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Bilateral cl... ORPHA:1104
Frontonasal Dysplasia 1
Conductive hearing impairment, Widow's peak, Hypoplastic frontal sinuses, Short columella, Wide n... OMIM:136760
Zimmermann-Laband Syndrome
Macroglossia, Gingival fibromatosis, Bulbous nose, Long eyelashes, Wide mouth, Facial hypertricho... ORPHA:3473
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Microphthalmia, Syndromic 12
Anophthalmia, Wide nasal bridge, Pulmonary hypoplasia, Microphthalmia, Broad nasal tip, Retrognat... OMIM:615524
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Sparse eyelashes, Dental crowding, Conductive hearing impairme... OMIM:616367
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Epispadias OMIM:600057
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro... OMIM:616860
Trisomy 4P
Scoliosis, Low anterior hairline, Abnormality of the antihelix, Carious teeth, Camptodactyly of f... ORPHA:1738
Nance-Horan Syndrome
Mulberry molar, Macrotia, Diastema, Screwdriver-shaped incisors, Supernumerary maxillary incisor,... OMIM:302350
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Highly arched eyebrow, Spina bifida, Cubitus valgus, Camptodactyly of finger, Narrow m... ORPHA:1327
Cerebrooculonasal Syndrome
Long philtrum, Macrotia, Low-set, posteriorly rotated ears, Abnormality of the nares, Solitary me... ORPHA:66625
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Sensorineural hearing impairment, Gingival fibromatosis, Gingival over... ORPHA:2027
49,Xxxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Scoliosis... ORPHA:96264
Acrorenal Syndrome, Autosomal Recessive
Decreased numbers of nephrons, Renal hypoplasia, Split hand, Radial deviation of finger, Clinodac... OMIM:201310
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Agenesis of permanent teeth, Abnormality of dental morphology, Everted... ORPHA:2228
Cerebrooculonasal Syndrome
Prominent nasal bridge, Craniosynostosis, Narrow palate, Short nose, Downturned corners of mouth,... OMIM:605627
Pilodental Dysplasia With Refractive Errors
Brittle scalp hair, Hypodontia, Sparse scalp hair, Wide nasal bridge, Brittle hair, Conical incisor OMIM:262020
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Narrow chest, Renal hypoplasia, Polydactyly, Hypoplastic scapulae, Bowing of the long bones, Epic... OMIM:614091
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Cleft ala nasi, Anophthalmia, Microphthalmia, Alopecia, Cleft palate OMIM:164180
Isolated Pierre Robin Syndrome
Micrognathia, Glossoptosis, Abnormality of the pharynx, Cleft palate ORPHA:718
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Holoprosencephaly 9
Hypoplasia of the premaxilla, Solitary median maxillary central incisor, Anophthalmia, Hydrocepha... OMIM:610829
Poland Syndrome
Hypoplasia of deltoid muscle, Sprengel anomaly, Rib fusion, Short ribs, Unilateral brachydactyly,... OMIM:173800
Robin Sequence With Cleft Mandible And Limb Anomalies
Hip subluxation, Abnormal aryepiglottic fold morphology, Narrow mouth, Microretrognathia, Cleft l... OMIM:268305
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Absent nasal septal cartilage, Bilateral cleft lip and palate, Non-midline cleft lip, Tooth agene... ORPHA:2003
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Horizontal ribs, Postaxial polydactyly, Bell-shaped thorax, ... OMIM:615633
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Nance-Horan Syndrome
Mandibular prognathia, Abnormality of the dentition, Protruding ear, Microphthalmia, Supernumerar... ORPHA:627
Fibular Hemimelia
Craniosynostosis, Hip subluxation, Bowing of the legs, Anophthalmia, Abnormality of fibula morpho... ORPHA:93323
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Oligodontia, Tooth malposition, Narrow mouth, Tarsal synostosis, Short nose, Abnormal... ORPHA:363417
Short thorax, Multiple renal cysts, Enlarged thorax, Absent or minimally ossified vertebral bodie... ORPHA:66637
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Short 4th metacarpal, Spina bifida, Polydactyly, Abnormal s... OMIM:109400
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Cockayne Syndrome Type 2
Enamel hypoplasia, Scoliosis, Delayed eruption of primary teeth, Hypoplasia of the primary teeth,... ORPHA:90322
Smith-Magenis Syndrome
Scoliosis, Delayed eruption of primary teeth, Short philtrum, Short nose, Taurodontia, Open mouth... ORPHA:819
Mental Retardation, Autosomal Dominant 21
Long philtrum, Thin vermilion border, Narrow mouth, Low-set, posteriorly rotated ears, Incisor ma... OMIM:615502
Mesomelia-Synostoses Syndrome
Abnormality of the knee, Long philtrum, Genu valgum, Abnormal eyebrow morphology, Convex nasal ri... ORPHA:2496
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Oligodontia, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... OMIM:313500
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cubitus valgus, Brushfield spots, Pigmentary retinopathy, Palpebral edema, Camptodactyly, Upslant... OMIM:214110
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Wide nasal base, Delayed eruption of teeth, Narrow palate, Atresia of the external auditory canal... OMIM:264475
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion, Hemivertebrae, Short neck, Vertebral segmentation defect, Vertebral clefting OMIM:608681
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Trichorhinophalangeal Syndrome Type 1 And 3
Scoliosis, Long philtrum, Hyperlordosis, Camptodactyly of finger, Sparse hair, Bulbous nose, Macr... ORPHA:77258
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Easily subluxated first metacarpophalangeal joints, Glossoptosis, Cleft pa... OMIM:311895
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly, Micropenis, Rod-cone dystrophy, Macular dystrophy OMIM:615983
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Preaxial hand polydactyly, Urethral obstruction, Hypertrophy of the urinary bladder, Renal hypopl... OMIM:601389
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Tarsal synostosis, Dens in dente, Mandibular prognathia, Hypodontia, Low-set e... OMIM:263540
8Q22.1 Microdeletion Syndrome
Highly arched eyebrow, Abnormality of the antihelix, Long philtrum, Craniosynostosis, Camptodacty... ORPHA:178303
Trichorhinophalangeal Syndrome, Type Iii
Pear-shaped nose, Long philtrum, Scoliosis, Sparse hair, Underdeveloped nasal alae, Dental crowdi... OMIM:190351
Orofaciodigital Syndrome Type 2
Hypoplasia of teeth, Tongue nodules, Natal tooth, Hamartoma of tongue, High palate, Micrognathia,... ORPHA:2751
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Momo Syndrome
Delayed eruption of teeth, Long philtrum, Taurodontia, Smooth philtrum, Wide nasal bridge, Underf... OMIM:157980
Gillessen-Kaesbach-Nishimura Syndrome
Wide anterior fontanel, Flexion contracture, Epicanthus, Ulnar deviation of the hand, Short long ... OMIM:263210
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Flared iliac wing, Hydroureter, Camptodactyly, Metatarsus adductus, ... OMIM:201000
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Renal hypoplasia, 2-3 toe syndactyly, Single transverse palmar crease, Renal dysplasi... OMIM:236500
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Temple Syndrome
Scoliosis, Short philtrum, Recurrent otitis media, Posteriorly rotated ears, Cleft palate, Bifid ... OMIM:616222
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Short thorax, Posterior rib fusion, Upslanted palpebral fissure, Missin... ORPHA:1797
Cleft Palate, Deafness, And Oligodontia
Bilateral conductive hearing impairment, Cleft soft palate, Oligodontia of primary teeth, No perm... OMIM:216300
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Scoliosis, Pigmentary retinopathy, Babinski sign, Hammertoe, Spasticity OMIM:619090
Spinocerebellar Ataxia, Autosomal Recessive 20
Scoliosis, Delayed eruption of teeth, Long philtrum, Macroglossia, Wide nasal base, Dental crowdi... OMIM:616354
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia, Neural tube defect OMIM:600776
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Carious teeth, Radioulnar synostosis, Abnormal palate morphology, Abnormality of the dentition, P... ORPHA:3270
Aarskog-Scott Syndrome
Delayed eruption of teeth, Long philtrum, Camptodactyly of finger, Genu recurvatum, Low-set, post... ORPHA:915
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Short philtrum, Platyspondyly, Sensorineural hearing impairment, Denti... ORPHA:71267
Anonychia With Flexural Pigmentation
Alopecia of scalp, Carious teeth, Convex nasal ridge, Abnormal hair morphology ORPHA:69125
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Horizontal ribs, Postaxial polydactyly, Short digit, Femoral bowing, Micropenis, Later... OMIM:613091
Temtamy Preaxial Brachydactyly Syndrome
Highly arched eyebrow, Talon cusp, Tarsal synostosis, Radioulnar synostosis, Bilateral sensorineu... OMIM:605282
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Prominent antihelix, Highly arched eyebrow, Delayed eruption of teeth, Long philtrum, Underdevelo... OMIM:618825
Tonne-Kalscheuer Syndrome
Narrow mouth, Downturned corners of mouth, Wide nasal bridge, Pulmonary hypoplasia, Prominent nas... OMIM:300978
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Preaxial hand polydactyly, Posterior rib fusion, Pectus excavatum, Unilateral renal agenesis, Epi... OMIM:608406
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Avascular necrosis of the capital femoral epi... OMIM:611555
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Broad nasal tip, Short nose, Long eyelashes, Abnormality of the dentition, Wide na... OMIM:618529
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosi... ORPHA:3019
Robin Sequence-Oligodactyly Syndrome
Abnormal form of the vertebral bodies, Abnormality of the dentition, Glossoptosis, Cleft palate, ... ORPHA:3104
Czeizel-Losonci Syndrome
2-3 finger syndactyly, Spina bifida, 1-2 finger syndactyly, Congenital megaureter, Abnormality of... ORPHA:2437
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Genu valgum, Delayed eruption of primary teeth, Posteriorl... OMIM:273050
Acrorenal-Mandibular Syndrome
Narrow chest, Split hand, Hemivertebrae, Downslanted palpebral fissures, Elbow flexion contractur... OMIM:200980
Frontometaphyseal Dysplasia 1
Genu valgum, Camptodactyly of finger, Scapular winging, Hydroureter, Ankle flexion contracture, P... OMIM:305620
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Renal hypoplasia, Postaxial polydactyly, Brachydactyly, Rod-cone dystrophy OMIM:600151
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Iris coloboma, Ocular anterior segment dysgenesis, Clinodactyly, Syndactyly, Peters ano... OMIM:610023
Verheij Syndrome
Coloboma, Renal hypoplasia, Clinodactyly, Renal cyst, Renal agenesis, Hip dislocation, Short 5th ... OMIM:615583
48,Xxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Scoliosis... ORPHA:96263
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Finger syndactyly, Iris coloboma, Postaxial foot polydactyly, Retinal dys... ORPHA:139471
Posterior Column Ataxia With Retinitis Pigmentosa
Scoliosis, Positive Romberg sign, Sensory ataxia, Flexion contracture of finger, Pigmentary retin... OMIM:609033
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Craniometadiaphyseal Dysplasia
Scoliosis, Wormian bones, Carious teeth, Genu valgum, Cubitus valgus, Wide anterior fontanel, Den... OMIM:269300
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Abnormal dentin morphology, Fragile teeth, Odontodysplas... ORPHA:49042
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Bulbous nose, Smooth philtrum, Synophrys, Thin upper lip vermilion, Widely-spaced incisors, Thick... OMIM:618737
Spondylocostal Dysostosis 5
Scoliosis, Posterior rib fusion, Low back pain, Pectus carinatum, Supernumerary ribs, Hemivertebr... OMIM:122600
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Mandibular prognathia, Kyphosis, High palate, Prominent nasal bridge, Hypoplasia of th... OMIM:300676
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Amelogenesis imperfecta, Carious teeth, Hyperlordosis, Genu valgum, Coronal cleft vert... OMIM:618363
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Arthrogryposis multiplex congenita, Anterior clefting of vertebral bodies, Neck pteryg... OMIM:265000
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Cleidocranial Dysplasia
Open bite, Scoliosis, Carious teeth, Abnormal dental enamel morphology, Wormian bones, Mandibular... ORPHA:1452
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... OMIM:128980
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Camptodactyly of finger, Short thorax, Abnormal form of the vertebral bodies, Finger s... ORPHA:2311
Premature Aging Syndrome, Penttinen Type
Scoliosis, Delayed eruption of teeth, Thin vermilion border, Wormian bones, Sparse hair, Narrow n... OMIM:601812
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
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Camptodactyly of finger, Abnormal dental enamel morphology, Abnormal eyebrow morphology, Abnormal... ORPHA:3220
Orofacial Cleft 13
Oligodontia, Cleft soft palate, Retrognathia, Micrognathia, Malar flattening OMIM:613857
Microphthalmia, Lenz Type
Abnormal clavicle morphology, Camptodactyly of finger, Chorioretinal coloboma, Hydroureter, Finge... ORPHA:568
Taurodontia OMIM:272700
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Optic nerve hypoplasia, Microphthalmia, Hyperechogenic kidneys OMIM:617914
Frank-Ter Haar Syndrome
Scoliosis, Delayed eruption of teeth, Short philtrum, Camptodactyly of finger, Genu recurvatum, B... ORPHA:137834
Cohen Syndrome
Genu valgum, Short philtrum, Cubitus valgus, Convex nasal ridge, Open mouth, Macrodontia of perma... OMIM:216550
Mucopolysaccharidosis, Type Ix
Periarticular soft-tissue mass, Chondrocalcinosis, Recurrent otitis media, Acetabular erosions, D... OMIM:601492
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Hypoplastic sacrum, Bifid distal phalanx of toe, Broad thumb, Downslanted palpebral fi... OMIM:268310
Momo Syndrome
Wide nasal base, Delayed eruption of teeth, Long philtrum, Taurodontia, Bilateral microphthalmos,... ORPHA:2563
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Pierre Robin Syndrome
Pierre-Robin sequence, Micrognathia, Glossoptosis, Cleft palate OMIM:261800
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Delayed eruption of teeth, Hypodontia ORPHA:63442
Stickler Syndrome, Type Ii
Anteverted nares, Pierre-Robin sequence, Sensorineural hearing impairment, Cleft palate, Bifid uv... OMIM:604841
Biemond Syndrome Type 2
Microphthalmia, Hypospadias, Preaxial polydactyly, Hydrocephalus ORPHA:141333
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Aicardi Syndrome
Abnormality of skin pigmentation, Chorioretinal coloboma, Abnormality of retinal pigmentation, Hi... ORPHA:50
Prune Belly Syndrome
Congenital hip dislocation, Hydroureter, Urethral valve, Pectus carinatum, Abnormal sternum morph... OMIM:100100
Orofaciodigital Syndrome Iii
Bulbous nose, Tongue nodules, Kyphosis, Low-set ears, Bifid tongue, Supernumerary tooth, Bifid uv... OMIM:258850
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Catel-Manzke Syndrome
Scoliosis, Highly arched eyebrow, Camptodactyly of finger, Low-set, posteriorly rotated ears, Chr... ORPHA:1388
Duane-Radial Ray Syndrome
Crossed fused renal ectopia, Optic disc hypoplasia, Iris coloboma, Sandal gap, Vesicoureteral ref... OMIM:607323
X-Linked Intellectual Disability, Porteous Type
Short philtrum, Bulbous nose, Macrotia, Mandibular prognathia, Cupped ear, Frontal balding, Hypop... ORPHA:93945
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Polydactyly, Bone spicule pigmentation of the retina, Rod-c... OMIM:615990
Oculodentodigital Dysplasia
Carious teeth, Abnormal dental enamel morphology, Underdeveloped nasal alae, Mandibular prognathi... ORPHA:2710
Atresia Of Urethra
Megacystis, Hydroureter, Recurrent urinary tract infections, Renal dysplasia, Vesicoureteral refl... ORPHA:105
Cardiocranial Syndrome, Pfeiffer Type
Contracture of the proximal interphalangeal joint of the 2nd finger, Temporomandibular joint anky... ORPHA:2872
Keratoconus Posticus Circumscriptus
Keratoconus, Short neck, Central posterior corneal opacity, Recurrent urinary tract infections, V... OMIM:244600
Distal Trisomy 6P
Renal hypoplasia, Abnormality of the urinary system, Long thorax, Cataract, Hydronephrosis, Intra... ORPHA:1745
Sjögren-Larsson Syndrome
Scoliosis, Abnormality of retinal pigmentation, Macular degeneration, Corneal erosion, Kyphosis, ... ORPHA:816
Trisomy 17P
Scoliosis, Urethral valve, Hypertonia, Flexion contracture, Broad eyebrow, Urethral stenosis, Cli... ORPHA:261290
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Pectus c... OMIM:609052
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Platyspondyly, Short philtrum, Thin vermilion border, Convex ... OMIM:156510
Pallister-Hall Syndrome
Y-shaped metacarpals, Hydroureter, Mesoaxial foot polydactyly, Micropenis, Distal shortening of l... OMIM:146510
Bardet-Biedl Syndrome 11
Polydactyly, Abnormality of the kidney OMIM:615988
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Medullary cystic kidney disease 2
Multiple renal cysts, Enuresis, Renal tubular atrophy, Renal corticomedullary cysts, Tubulointers... OMIM:603860
Cerebrooculofacioskeletal Syndrome 3
Low-set ears, Micrognathia, Microphthalmia, Cleft palate OMIM:616570
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Abnormality of the ribs, Hypoplastic cervical vertebrae, Abno... ORPHA:2635
Arthrogryposis, Distal, Type 1C
Pursed lips, Scoliosis, Thin vermilion border, Camptodactyly of finger, Narrow mouth, Camptodacty... OMIM:619110
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Accessory oral frenulum, Large earlobe, Absent tragus, Overfolded h... ORPHA:79113
Auriculocondylar Syndrome 2
Narrow mouth, Dental crowding, Overfolding of the superior helices, Mandibular condyle aplasia, A... OMIM:614669
Retinopathy, Pigmentary, And Mental Retardation
Scoliosis, Joint hypermobility, Pigmentary retinopathy, Narrow palm, Cataract, Arachnodactyly OMIM:268050
Growth Hormone Insensitivity Syndrome
Delayed eruption of teeth, Abnormality of the mouth, Everted lower lip vermilion, Hearing impairm... ORPHA:181393
Proximal 16P11.2 Microdeletion Syndrome
Scoliosis, Craniosynostosis, Hand polydactyly, Abnormal vertebral morphology, Speech apraxia, Par... ORPHA:261197
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Hydroureter, Multicystic kidney dysplasia, Abnormality of the urethra, ... ORPHA:2973
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Hypoplasia of the ulna, Mesomelia, Neonatal death, Syndactyly, Renal cyst OMIM:228940
Hallermann-Streiff Syndrome
Scoliosis, Wormian bones, Thin vermilion border, Narrow palate, Narrow mouth, Underdeveloped nasa... OMIM:234100
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Becker Nevus Syndrome
Scoliosis, Abnormality of tibia morphology, Pectus carinatum, Kyphosis, Upper limb asymmetry, Pec... ORPHA:64755
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Open mouth, Dental crowding, Aqueductal stenosis, Wide nasal bridge, Shovel-shaped maxillary cent... OMIM:600906
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Delayed eruption of teeth, Hyperlordosis, Conductive hearing impairment, High, narrow ... ORPHA:2780
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Platyspondyly, Mandibular prognathia, Hypertrichosis, Narro... OMIM:601216
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia, Choanal stenosis, Coronal craniosynostosis, Micrognathia, Malar flattening... OMIM:241310
Epidermal Nevus Syndrome
Progressive spastic paraparesis, Hypertonia, Thoracolumbar scoliosis, Hyperpigmentation of the sk... ORPHA:35125
Split-Hand/Foot Malformation 3
Narrow mouth, Microretrognathia, Abnormality of the pinna, Cleft palate, High palate, Nail dystro... OMIM:246560
Temple-Baraitser Syndrome
Open mouth, High palate, Wide nose, Depressed nasal bridge, Low anterior hairline, Long philtrum,... ORPHA:420561
Peroxisome Biogenesis Disorder 3A (Zellweger)
Epiphyseal stippling, Polycystic kidney dysplasia OMIM:614859
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Narrow mouth, Short nose, Ulnar deviation of the wrist, Sensorineural he... ORPHA:1529
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Hypopigmentation of hair, Short philtrum, Taurodontia, Sensorineural h... ORPHA:3214
Isolated Klippel-Feil Syndrome
Scoliosis, Abnormality of the vertebral column, Sprengel anomaly, Cervical C2/C3 vertebral fusion... ORPHA:2345
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Abnormal eyebrow morphology, Hypodontia, Depressed nasal ridge, Genera... ORPHA:1816
Severe Oculo-Renal-Cerebellar Syndrome
Scoliosis, Abnormality of retinal pigmentation, Joint hyperflexibility, Spastic diplegia, Spastic... ORPHA:2715
Acro-Renal-Ocular Syndrome
Radial club hand, Crossed fused renal ectopia, Optic disc coloboma, Optic disc hypoplasia, Broad ... ORPHA:959
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Toe syndactyly, Abnormality iris morphology, Coloboma, Cataract, Bullet-... ORPHA:1617
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Thoracic kyphoscoliosis, Generalized hypoplasia of dental enamel, Hip dislocation,... OMIM:203550
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, High anterior hairline, Dental malocclusion, Smooth philtrum, Abnormality of the d... ORPHA:363444
Aredyld Syndrome
Scoliosis, Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Low-set, p... ORPHA:1133
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
Camptodactyly of finger, Protruding ear, Patchy alopecia, High palate, Prominent nasal bridge, Hy... ORPHA:85279
Microphthalmia, Syndromic 3
Coloboma, Rib fusion, Optic nerve hypoplasia, Microphthalmia, Missing ribs, Anophthalmia, Hypospa... OMIM:206900
Cloacal Exstrophy
Absent foot, Spina bifida, Abnormality of tibia morphology, Horseshoe kidney, Talipes equinovarus... ORPHA:93929
Parc Syndrome
Absent eyelashes, Microretrognathia, Absent eyebrow, Alopecia, Cleft palate OMIM:600331
Auriculocondylar Syndrome
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Hamartoma of tongue, Question mark ear... ORPHA:137888
Acrocraniofacial Dysostosis
Short philtrum, Craniosynostosis, Conductive hearing impairment, Natal tooth, Abnormality of the ... OMIM:201050
Ring Chromosome 14 Syndrome
Downslanted palpebral fissures, Short neck, Epicanthus, Pigmentary retinopathy OMIM:616606
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Scoliosis, Oligodontia, Narrow palate, Narrow mouth, Hirsutism, Sensorineural hearing impairment,... OMIM:235510
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Micrognathia, Cleft palate OMIM:172880
Codas Syndrome
Congenital hip dislocation, Abnormality of epiphysis morphology, Hydroureter, Cataract, Short met... ORPHA:1458
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Radioulnar synostosis, Toe syndactyly, Renal hypoplasia, Pectus carinatum, Bowing... ORPHA:171839
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Holoprosencephaly 7
Semilobar holoprosencephaly, Hypoplasia of the premaxilla, Median cleft lip and palate, Absent na... OMIM:610828
Autosomal Recessive Multiple Pterygium Syndrome
Scoliosis, Arthrogryposis multiplex congenita, Abnormal sternum morphology, Spina bifida occulta,... ORPHA:2990
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Holoprosencephaly, Pyriform aperture stenosis, Torus palatinus, ... OMIM:147250
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Rhizomelia, Chronic kidney disease, Narrow chest OMIM:617661
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Depressed nasal bridge, Dental malocclusion, Patchy distortion of ve... OMIM:155050
Trichorhinophalangeal Syndrome, Type I
Pear-shaped nose, Scoliosis, Carious teeth, Narrow palate, Leukonychia, Slow-growing hair, Microg... OMIM:190350
Acrootoocular Syndrome
Wide nasal base, Delayed eruption of teeth, Conductive hearing impairment, Atresia of the externa... ORPHA:2980
Bardet-Biedl Syndrome 12
Polydactyly, Abnormality of the kidney OMIM:615989
Wolf-Hirschhorn Syndrome
Scoliosis, Split hand, Iris coloboma, Abnormal thorax morphology, Megalocornea, Short thumb, Down... ORPHA:280
Lujan-Fryns Syndrome
Scoliosis, Camptodactyly of finger, Short philtrum, Dental crowding, Abnormality of the dentition... ORPHA:776
Mcdonough Syndrome
Open bite, Scoliosis, Short philtrum, Underdeveloped nasal alae, Macrotia, Low-set, posteriorly r... ORPHA:2471
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Prominence of the premaxilla, Narrow mouth, Anteverted nares, Congenital... ORPHA:2412
Otopalatodigital Syndrome Type 1
Short hallux, Abnormality of the tarsal bones, Synostosis of carpal bones, Elbow dislocation, Bow... ORPHA:90650
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Stickler Syndrome Type 1
Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis morphology, Short nose, Sensorin... ORPHA:90653
Rhyns Syndrome
Nephronophthisis, Abnormality of long bone morphology, Rod-cone dystrophy, Hypoplastic ilia, Dela... ORPHA:140976
Juberg-Hayward Syndrome
Scoliosis, Highly arched eyebrow, Hypoplasia of the radius, Abnormal eyebrow morphology, Horsesho... ORPHA:2319
Burn-Mckeown Syndrome
Thin vermilion border, Short philtrum, Narrow mouth, Underdeveloped nasal alae, Conductive hearin... OMIM:608572
Microphthalmia ORPHA:35612
Microcephalic Primordial Dwarfism, Montreal Type
Open bite, Scoliosis, Carious teeth, Convex nasal ridge, Abnormal hair quantity, Premature grayin... ORPHA:2617
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Cataract, Microcornea, Microphthalmia, Intrauterine growth retardation, Optic at... OMIM:616171
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Thin vermilion border, Short nose, Thick lower lip vermilion, Macrotia, Low-set, p... ORPHA:2701
Decreased numbers of nephrons, Optic disc coloboma, Unilateral renal agenesis, Abnormality of med... ORPHA:2260
Distal Tetrasomy 15Q
Scoliosis, Craniosynostosis, Horseshoe kidney, Abnormal sternum morphology, Camptodactyly, Flexio... ORPHA:314588
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Narrow chest, Hemivertebrae, Bull's eye maculop... OMIM:213980
Congenital Muscular Dystrophy With Intellectual Disability
Scoliosis, Pigmentary retinopathy, Poor gross motor coordination, Decreased cervical spine mobili... ORPHA:370968
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Optic atrophy, Babinski sign OMIM:311050
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Pigmentary retinopathy, Spasticity OMIM:614307
Hall-Riggs Syndrome
Scoliosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Platyspondyly, Downturne... ORPHA:2107
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Smooth philtrum, Thin up... OMIM:129540
Trisomy 1Q
Camptodactyly of finger, Narrow mouth, Microretrognathia, Abnormality of the outer ear, Low-set e... ORPHA:261344
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Abnormality of the antihelix, Conductive hearing impairment, Supernumerary tooth, ... ORPHA:3145
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Hematuria, Posterior embryotoxon, Iris coloboma, Corneal opacity, Catarac... ORPHA:1473
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the radius, Renal hypoplasia, Hypoplasia of the ulna, Syndactyly, Renal agenesis OMIM:212780
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Lambdoidal craniosynostosis, Sagittal craniosynostos... OMIM:614188
Orofaciodigital Syndrome Xvii
Clubbing of fingers, Central Y-shaped metacarpal, Renal hypoplasia, Polydactyly, Short middle pha... OMIM:617926
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Cataract, Microphthalm... OMIM:212550
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Coloboma, Rhizomelia, Ectopia pupillae, Cataract, Microcornea, Microphthalmia, Sclerocornea, Anop... OMIM:615877
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign, Abnormality... OMIM:160120
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Low anterior hairline, Camptodactyly of finger, Hypodontia, Glossoptosis, Joint dislocation, High... ORPHA:3201
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Polydactyly, Retinal degeneration, Syndactyly, Renal cyst, Brachydactyly, Abn... OMIM:615982
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Failure of eruption of permanent teeth, Tooth malposition, Absent nares, Anosmia, Anophthalmia, H... ORPHA:2250
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Sparse hair, Depressed nasal ridge, Everted lower lip vermilion, Aplas... ORPHA:181
Mental Retardation, Buenos Aires Type
Carious teeth, Cuboid-shaped thoracolumbar vertebral bodies, Mandibular prognathia, Long eyelashe... OMIM:249630
Zimmermann-Laband Syndrome 3
Low anterior hairline, Thick hair, Kyphosis, Long eyelashes, Synophrys, Facial hypertrichosis, Wi... OMIM:618658
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormality of the mandible, Cleft palate OMIM:217150
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Small thenar eminence, Renal hypoplasia, 2-3 toe syndactyly, Joint contracture of the 5th finger,... OMIM:618914
Oliver-Mcfarlane Syndrome
Central heterochromia, Pigmentary retinopathy, Long eyelashes, Retinal degeneration, Hypoplasia o... OMIM:275400
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Short philtrum, Mandibular prognathia, Kyphosis, Synophrys, Protruding ear, Hypertrich... ORPHA:85317
Vertebral Hypersegmentation And Orofacial Anomalies
Thickened helices, Supernumerary nipple, Widow's peak, Six lumbar vertebrae, Unilateral cleft lip... OMIM:619122
Mosaic Trisomy 14
Camptodactyly of finger, Micrognathia, Low-set, posteriorly rotated ears, Wide mouth, Wide nasal ... ORPHA:1703
Spinocerebellar Ataxia 43
Lower limb pain, Tremor, Gait ataxia, Pectus carinatum, Limb ataxia, Ataxia, Distal sensory impai... OMIM:617018
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Spondylocarpotarsal Synostosis Syndrome
Scoliosis, Tarsal synostosis, C2-C3 subluxation, Abnormality of pelvic girdle bone morphology, Sh... OMIM:272460
Trisomy X
Hip dysplasia, Tremor, Joint hyperflexibility, Pectus excavatum, Upslanted palpebral fissure, Epi... ORPHA:3375
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia OMIM:119540
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Sparse hair, Abnormality of the dentition, Supernumerary tooth, Uncombable hair ORPHA:1264
Femoral-Facial Syndrome
Scoliosis, Short fifth metatarsal, Abnormal renal collecting system morphology, Dysplastic sacrum... OMIM:134780
20P12.3 Microdeletion Syndrome
Long philtrum, Thickened helices, Narrow mouth, Wide nasal bridge, Depressed nasal bridge, Malar ... ORPHA:261295
Carnosinuria, Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Spastic para... OMIM:236130
Fanconi Anemia, Complementation Group I
Abnormal renal morphology, Hypoplasia of the radius, Horseshoe kidney, Renal hypoplasia, Short 1s... OMIM:609053
Acrofacial Dysostosis, Weyers Type
Abnormality of the antihelix, Abnormality of the dentition, Hypodontia, Solitary median maxillary... ORPHA:952
Acrocraniofacial Dysostosis
Abnormality of the incus, Abnormality of the middle ear ossicles, Short philtrum, Abnormality of ... ORPHA:949
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Postaxial polysyndactyly of foot, Postaxial hand polydactyly, Preaxial hand polyda... OMIM:263520
Kbg Syndrome
Scoliosis, Finger clinodactyly, Thoracic kyphosis, Persistent open anterior fontanelle, Synophrys... ORPHA:2332
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Gener... ORPHA:2790
Laron Syndrome
Delayed eruption of teeth, Abnormality of the elbow, Tooth agenesis, Hypoplastic nasal bridge, Mi... ORPHA:633
Lowry-Wood Syndrome
Dislocated radial head, Platyspondyly, Abnormality of retinal pigmentation, Elbow dislocation, Ab... ORPHA:1824
Hemifacial Microsomia
Anotia, Vertebral hypoplasia, Unilateral external ear deformity, Branchial anomaly, Conductive he... OMIM:164210
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Arthrogryposis multiplex congenita, Craniosynostosis, Tarsal synost... OMIM:178110
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Abnormal dental enamel morphology, Short philtrum, Mandibular prognath... ORPHA:2325
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormality of the ribs, Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Camptodactyly of finger, Carious teeth, Hypodontia, Oral mucosal blisters, Nail dystrophy OMIM:226650
Gorlin Syndrome
Scoliosis, Palmar pits, Melanocytic nevus, Iris coloboma, Epicanthus, Hemivertebrae, Vertebral fu... ORPHA:377
Immunodeficiency 49
Wormian bones, Short philtrum, Hirsutism, Natal tooth, Umbilical hernia, Posteriorly rotated ears... OMIM:617237
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Microphthalmia ORPHA:83461
Scoliosis, Irregular carpal bones, Joint laxity, Metaphyseal irregularity, Short phalanx of finge... ORPHA:750
Aase-Smith Syndrome
Scoliosis, Camptodactyly of finger, Abnormality of the pinna, Trismus, Cleft palate ORPHA:916
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Abnormal clavicle morphology, Kyphosis, Pectus excavatum, Abnormality of the urete... ORPHA:2522
Bardet-Biedl Syndrome 9
Postaxial hand polydactyly, Attenuation of retinal blood vessels, Polydactyly, Postaxial polydact... OMIM:615986
Distal Monosomy 17Q
Abnormality of the philtrum, Narrow mouth, Aplasia/Hypoplasia of the uvula, Abnormal form of the ... ORPHA:1597
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Thin vermilion border, Overfolded helix, Elbow dislocation, Low-set, pos... ORPHA:2631
Craniolenticulosutural Dysplasia
Scoliosis, Delayed eruption of teeth, Carious teeth, Thin vermilion border, Long philtrum, Sparse... ORPHA:50814
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Convex nasal ridge, Abnormal form of the vertebral bodies, Conductive hearing impairment, Abnorma... ORPHA:93262
Branchiogenic-Deafness Syndrome
Abnormality of the middle ear ossicles, Branchial cyst, Branchial fistula, Atresia of the externa... OMIM:609166
Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta
Amelogenesis imperfecta, Delayed eruption of teeth, Hypodontia OMIM:615905
Crouzon Disease
Convex nasal ridge, Narrow palate, Narrow internal auditory canal, Conductive hearing impairment,... ORPHA:207
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Flat acetabular roof, Narrow greater sciatic notch, Cone-shaped epiphyses of the phala... OMIM:609616
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract, Hematuria, Microphthalmia, Coloboma OMIM:120433
Pontine Tegmental Cap Dysplasia
Scoliosis, Decreased corneal sensation, Oculomotor apraxia, Rib fusion, Ankle clonus, Hemivertebr... OMIM:614688
Saethre-Chotzen Syndrome
Open bite, Scoliosis, Abnormality of the antihelix, Craniosynostosis, Narrow palate, Narrow inter... ORPHA:794
Rothmund-Thomson Syndrome, Type 2
Sparse eyebrow, Hypoplasia of teeth, Premature graying of hair, Overfolded helix, Congenital hip ... OMIM:268400
Osteoglosphonic Dysplasia
Scoliosis, Craniosynostosis, Abnormal form of the vertebral bodies, Choanal atresia, Tooth agenes... ORPHA:2645
Nephronophthisis 13
Nephronophthisis, Mild proteinuria, Renal hypoplasia, Polydactyly, Retinal dystrophy, Stage 5 chr... OMIM:614377
X-Linked Intellectual Disability Due To Gria3 Mutations
Uplifted earlobe, Scoliosis, Short philtrum, Narrow palate, Open mouth, Macrotia, Genu recurvatum... ORPHA:364028
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Mandibular prognathia, Cleft palate, Bifid uvula, Retrognathia, Microgna... ORPHA:2521
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Decreased transferrin saturation, Increased serum i... ORPHA:300298
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of the knee, Narrow palate, Abnormal palate morphology, Tooth agenesis, Posteriorly r... ORPHA:2063
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Scoliosis, Positive Romberg sign, Gait ataxia, Flexion contracture of finger, Rod-cone dystrophy,... ORPHA:88628
Coffin-Siris Syndrome 11
Uplifted earlobe, Bulbous nose, Downturned corners of mouth, Wide mouth, Esophageal atresia, Bifi... OMIM:618779
Nablus Mask-Like Facial Syndrome
Craniosynostosis, Narrow mouth, High palate, Frontal upsweep of hair, Hypoplasia of the maxilla, ... OMIM:608156
Craniosynostosis 2
Unicoronal synostosis, Craniosynostosis, Supernumerary tooth, Cleft soft palate, Bicoronal synost... OMIM:604757
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Long philtrum, Prominence of the premaxilla, Short nose, Open mouth, Deep phi... OMIM:137550
Monosomy 18P
Carious teeth, Abnormality of the antihelix, Low posterior hairline, Short philtrum, Downturned c... ORPHA:1598
Neurogenic Thoracic Outlet Syndrome