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

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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 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
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A... ORPHA:2838
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:205950
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Congenital Primary Megaureter
Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis... ORPHA:617
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Vesicoureteral Reflux 3
Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j... OMIM:613674
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Ureterocele, Duplicated collecting system OMIM:191650
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Microphthalmia, Delayed eruption of teeth, Periodont... ORPHA:2791
Cleft Lip/Palate
Orofacial cleft, Recurrent otitis media, Abnormal number of permanent teeth, Palate fistula, Bila... ORPHA:199306
Joubert Syndrome 22
Microphthalmia, Retinal dysplasia, 2-3 toe syndactyly, Coloboma, Postaxial hand polydactyly, Rena... OMIM:615665
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Urofacial Syndrome 1
Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ... OMIM:236730
Odontochondrodysplasia 1
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ... OMIM:184260
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Sensorineural hearing impairment, Anteverted nar... OMIM:166750
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral agenesis, Ureteral dysgenesis OMIM:274265
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Gombo Syndrome
Microphthalmia, Radial deviation of finger, Clinodactyly, Brachydactyly OMIM:233270
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Monocytosis, Leukopenia, Acute myeloid leukemia OMIM:616871
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Femoral-Facial Syndrome
Abnormal fibula morphology, Renal hypoplasia/aplasia, Long penis, Polycystic kidney dysplasia, Sc... ORPHA:1988
Carey-Fineman-Ziter Syndrome 2
High, narrow palate, Protruding ear, Increased overbite, Dental crowding, Scoliosis, Abnormal nas... OMIM:619941
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:206100
Chromosome 22Q11.2 Duplication Syndrome
Abnormal pinna morphology, Low-set ears, High palate, Depressed nasal ridge, Velopharyngeal insuf... OMIM:608363
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia, Microcoria, Chorioretinal coloboma, Optic pit, Iris coloboma OMIM:616428
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hydroureter, Hypoplasia of penis, Abnormality of the bladder, Abnormality of the ... ORPHA:2547
Humero-Radio-Ulnar Synostosis
Abnormal thumb morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the thumb, Abnor... ORPHA:3266
Rubinstein-Taybi Syndrome 2
Narrow palate, Retrognathia, Increased overbite, Low hanging columella, Highly arched eyebrow, Hi... OMIM:613684
Cat-Eye Syndrome
Microphthalmia, Renal hypoplasia/aplasia, Abnormal localization of kidney, Abnormal rib morpholog... ORPHA:195
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull... OMIM:617610
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Abnormal hip bone morphology, Renal agenesis, Upper limb phocomelia, Syn... ORPHA:294975
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Intellectual Disability, Birk-Barel Type
High, narrow palate, Limited elbow flexion/extension, Protruding ear, Short philtrum, Narrow nasa... ORPHA:166108
Trichodentoosseous Syndrome
Widely spaced teeth, Abnormal hair morphology, Microdontia, Taurodontia OMIM:190320
Dentin Dysplasia, Type I
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... OMIM:125400
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Scoliosis, Abnormal rib morp... ORPHA:3268
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Vertebral wedging, Polycystic kidney dysplasia, 2-3 toe synda... OMIM:617866
Jeune Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Nephronophthisis, Narrow chest, Sho... ORPHA:474
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition, Hearing impairment,... ORPHA:2222
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Meckel Syndrome, Type 8
Polydactyly, Occipital encephalocele, Enlarged kidney, Microphthalmia, Encephalocele, Anophthalmi... OMIM:613885
Microphthalmia, Syndromic 12
Retrognathia, Microphthalmia, Anophthalmia, Intestinal malrotation, Micrognathia, Cleft palate, B... OMIM:615524
Senior-Loken Syndrome
Nephronophthisis, Retinal dystrophy, Abnormality of bone mineral density, Abnormality of retinal ... ORPHA:3156
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Genu valgum, Low-set, posteriorly rotated ears, Delayed eruption of teeth, Maxillozygomatic hypop... ORPHA:2972
Elliptocytosis 3
Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume OMIM:617948
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Small earlobe, Everted lower lip vermilion, Prominence of the zygomatic bone, Oli... ORPHA:364577
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Hypertonia, Clinodactyly of the 5th finger, Scoliosis, Heterochromia iridis, Synophrys, Ptosis, D... ORPHA:1390
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Exaggerated cupid's bow, H... ORPHA:2025
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Rapp-Hodgkin Syndrome
Nail dystrophy, Decreased number of sweat glands, Microdontia, Bifid uvula, Sparse hair, Small, c... OMIM:129400
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Liberfarb Syndrome
Bone spicule pigmentation of the retina, Metaphyseal striations, Delayed epiphyseal ossification,... OMIM:618889
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Arthrogryposis, Distal, Type 1C
Retrognathia, Thin vermilion border, Scoliosis, Elbow flexion contracture, High palate, Narrow mo... OMIM:619110
Craniofacial Microsomia 2
Microtia, Microtia, third degree, Microtia, second degree, Dermal sinus tract, Submucous cleft pa... OMIM:620444
Hemifacial Atrophy, Progressive
Short mandibular rami, Delayed eruption of teeth, Microtia, Patchy alopecia, Kyphosis, Poliosis, ... OMIM:141300
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Orofaciodigital Syndrome Ii
Hydrocephalus, Scoliosis, Bifid nasal tip, High palate, Agenesis of central incisor, Hypoplasia o... OMIM:252100
Acrofacial Dysostosis, Palagonia Type
Supernumerary tooth, High, narrow palate, Spina bifida occulta, Abnormal form of the vertebral bo... ORPHA:1787
Zimmermann-Laband Syndrome 3
Thick lower lip vermilion, Thick hair, Facial hypertrichosis, Gingival overgrowth, High palate, K... OMIM:618658
48,Xxyy Syndrome
Chronic otitis media, Thick lower lip vermilion, Broad jaw, Delayed eruption of teeth, Abnormal d... ORPHA:10
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Anteverted nares, Abnormality of the dentition, Everted lower ... ORPHA:1515
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia, Chorioretinal coloboma, Iris coloboma OMIM:611638
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the philtrum, High palate, Low-s... ORPHA:2863
Kniest Dysplasia
Bilateral ptosis, Enlarged metaphyses, Aplasia/Hypoplasia of the lens, Short long bone, Lattice r... ORPHA:485
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Short iliac bones, Chronic tubulointerstitial nephritis, Rhizomelia, Narrow chest, Broad long bon... OMIM:614376
Apert Syndrome
Narrow palate, Esophageal atresia, Delayed eruption of teeth, Hydrocephalus, Sensorineural hearin... ORPHA:87
Orofacial Cleft 15
High anterior hairline, Palate fistula, Bilateral cleft palate, Low-set ears, Distichiasis, Spars... OMIM:616788
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Lowry-Maclean Syndrome
Convex nasal ridge, Craniosynostosis, Cleft palate, Delayed eruption of teeth OMIM:600252
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Unilateral renal agenesis, Short thorax, Bilateral renal agenesis, Vertebral segme... OMIM:618845
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hydroureter, Clinodactyly of the 5th finger, Vesicoureteral reflux, Nephrolithiasis, Hip dysplasi... OMIM:617219
Clark-Baraitser syndrome
Thick lower lip vermilion, Genu valgum, Genu recurvatum, Anteverted nares, Scoliosis, Prominent m... OMIM:300602
Oculocerebrocutaneous Syndrome
Microphthalmia, Cleft ala nasi, Anophthalmia, Orbital encephalocele, Congenital hip dislocation, ... OMIM:164180
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Arthrogryposis, Distal, Type 5
Keratoglobus, Pectus excavatum, Congenital finger flexion contractures, Kyphosis, Arachnodactyly,... OMIM:108145
Snijders Blok-Campeau Syndrome
Widely spaced teeth, Scoliosis, High palate, Low-set ears, Enamel hypoplasia, Umbilical hernia, P... OMIM:618205
Frontonasal Dysplasia 1
Joint contracture of the hand, Short columella, Microphthalmia, Bifid nasal tip, Low-set ears, An... OMIM:136760
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Highly arched eyebrow, Intestinal malrotation, Enamel agenesis, Long philtrum, Anteverted nares, ... OMIM:614701
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Low-set, posteriorly rotated ears, Plantar flexion contracture, Temporomandi... ORPHA:2872
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia, Hand polydactyly OMIM:236110
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... ORPHA:83451
Filippi Syndrome
Thin vermilion border, Short philtrum, Low hanging columella, Serrated incisors, Microdontia, Abn... OMIM:272440
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Abnormal vertebral morphology, Low-set, posteriorly rotated ears, Anteverted nares, M... ORPHA:2015
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Hirsutism, Abnormality of ... ORPHA:2026
Lowry-Maclean Syndrome
Convex nasal ridge, Retrognathia, High, narrow palate, Short nose, Widely patent coronal suture, ... ORPHA:2409
Trisomy 13
Bilateral single transverse palmar creases, Optic atrophy, Microphthalmia, Narrow chest, Anophtha... ORPHA:3378
Prune Belly Syndrome
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... ORPHA:2970
Cerebrooculonasal Syndrome
Abnormal nostril morphology, Tessier cleft, Widely spaced teeth, Solitary median maxillary centra... ORPHA:66625
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Multi... ORPHA:66637
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Tetrasomy 12P
Short nose, Delayed eruption of teeth, Abnormal soft palate morphology, Anteverted nares, Everted... ORPHA:884
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Short philtrum, Anophthalmia, Prominent ear helix, Anteverted nares, Everted lower lip vermilion,... ORPHA:411986
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Maxillonasal Dysplasia
Abnormal nostril morphology, Short nose, Patchy distortion of vertebrae, Mandibular prognathia, O... ORPHA:1248
Microphthalmia, Lenz Type
Abnormal clavicle morphology, Microphthalmia, Abnormal shoulder morphology, Clinodactyly of the 5... ORPHA:568
Adducted Thumbs Syndrome
High, narrow palate, High palate, Velopharyngeal insufficiency, Cleft palate, Craniosynostosis, H... OMIM:201550
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Oculodentodigital Dysplasia
Microphthalmia, Joint contracture of the 5th finger, Broad alveolar ridges, Abnormal pinna morpho... OMIM:164200
Anophthalmia Plus Syndrome
Tessier cleft, Low-set, posteriorly rotated ears, Anophthalmia, Aplasia/Hypoplasia of the earlobe... ORPHA:1104
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Thin vermilion border, Thick lower lip vermilion, Brittle hair, Highly arche... OMIM:617412
Retrognathia, Gingival cleft, Microphthalmia, Low-set, posteriorly rotated ears, Anencephaly, Ano... ORPHA:2189
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Scoliosis, Absent dorsal skin creases over affecte... OMIM:618167
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia, Vesicoureteral reflux, Postaxial hand polydactyly, Hypopl... ORPHA:85284
Meckel Syndrome 13
Oculomotor apraxia, Polycystic kidney dysplasia, Retinopathy, Ataxia, Flexion contracture OMIM:617562
Teebi Hypertelorism Syndrome 2
Short nose, Delayed eruption of teeth, Wide anterior fontanel, High palate, Everted lower lip ver... OMIM:619736
W Syndrome
Cubitus valgus, Abnormality of the scalp hair, Broad nasal tip, Upper lip pit, Submucous cleft ha... ORPHA:2804
Bardet-Biedl Syndrome 19
Y-shaped metacarpals, Postaxial polydactyly, Renal hypoplasia, Cone/cone-rod dystrophy, Hydroneph... OMIM:615996
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia OMIM:104530
Spastic Paraplegia 81, Autosomal Recessive
Sensorineural hearing impairment, Bifid uvula, Cleft palate, Ankle clonus OMIM:618768
Oculodentodigital Dysplasia, Autosomal Recessive
Long nose, Hypoplasia of the primary teeth, Microphthalmia, Dental crowding, Sparse hair, Long ph... OMIM:257850
Pyle Disease
Limited elbow extension, Genu valgum, Cubitus valgus, Delayed eruption of teeth, Mandibular progn... OMIM:265900
Smith-Magenis Syndrome
Chronic otitis media, Short nose, Short philtrum, Abnormal form of the vertebral bodies, Antevert... ORPHA:819
Tricho-Dento-Osseous Syndrome
Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Abnormal hair quantity, Micro... ORPHA:3352
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Microphthalmia With Limb Anomalies
Retrognathia, Capitate-hamate fusion, Short nose, Microphthalmia, Camptodactyly of 2nd-5th finger... OMIM:206920
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of ... OMIM:113000
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Congenital Velopharyngeal Incompetence
Hearing impairment, Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Intellectual Developmental Disorder, Autosomal Dominant 21
Thin vermilion border, Incisor macrodontia, Narrow mouth, Low-set ears, Long eyelashes, Cleft pal... OMIM:615502
Tooth Agenesis, Selective, 9
Selective tooth agenesis, Microdontia, Taurodontia OMIM:617275
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Cofs Syndrome
Optic atrophy, Hypertonia, Death in infancy, Joint stiffness, Camptodactyly of finger, Prominent ... ORPHA:1466
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Non-midline cleft of the upper lip, Bilateral cleft palate, Sparse scalp hair, Depre... ORPHA:2003
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ... OMIM:615633
Carpenter Syndrome 1
Flared iliac wing, Duplication of the proximal phalanx of the hallux, Umbilical hernia, Genu varu... OMIM:201000
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Short long bone, Broad femoral neck, Butterfly vertebrae, Hemolytic-uremic syndro... OMIM:611209
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Renal hypoplasia, Brachydactyly, Rod-cone dystrophy, Pigmentary retinopathy OMIM:600151
Catifa Syndrome
Delayed eruption of teeth, Tooth malposition, Increased overbite, Microtia, Anteverted nares, Cle... OMIM:618761
Camptodactyly Syndrome, Guadalajara Type 1
Short nose, Cubitus valgus, Low-set, posteriorly rotated ears, Abnormal form of the vertebral bod... ORPHA:1327
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Talipes equinovarus, Urethral obstruction, Renal hypoplasia, Sprengel anomaly, Cervical ribs, Ren... OMIM:601389
Bladder Exstrophy And Epispadias Complex
Epispadias, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Horseshoe kidney OMIM:600057
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Stickler Syndrome, Type Ii
High, narrow palate, Sensorineural hearing impairment, Arthropathy, Anteverted nares, Tympanic me... OMIM:604841
49,Xxxxy Syndrome
Chronic otitis media, Wide nose, Delayed eruption of teeth, Abnormal dental enamel morphology, Ma... ORPHA:96264
Basal Cell Nevus Syndrome 1
Polydactyly, Short 4th metacarpal, Microphthalmia, Iris coloboma, Palmar pits, Abnormal sternum m... OMIM:109400
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Intellectual Developmental Disorder, X-Linked 90
Bifid uvula, High palate, Malar flattening OMIM:300850
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Coffin-Siris Syndrome 3
Wide nose, Anteverted nares, Scoliosis, Hirsutism, High palate, Sparse scalp hair, Long eyelashes... OMIM:614608
Poland Syndrome
Hypoplasia of deltoid muscle, Short ribs, Hemivertebrae, Unilateral oligodactyly, Sprengel anomal... OMIM:173800
Pallister-Hall Syndrome
Microphthalmia, Ectopic kidney, Oligodactyly, Shortening of all distal phalanges of the fingers, ... OMIM:146510
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Hypospadias, Narrow chest, Polycystic kidney dysplasia, Short ribs, Short long bone,... OMIM:614091
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Renal insufficiency, 2,8-dihydroxyadenine cry... OMIM:614723
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Bifid nasal tip, Bifid uvula, Broad philtrum, Abnormality of the... OMIM:211380
Auriculocondylar Syndrome
Aplasia/Hypoplasia of the external ear, Cleft helix, Abnormality of the temporomandibular joint, ... ORPHA:137888
Bardet-Biedl Syndrome 5
Polydactyly, Macular dystrophy, Syndactyly, Brachydactyly, Rod-cone dystrophy, Micropenis OMIM:615983
Gillessen-Kaesbach-Nishimura Syndrome
Narrow greater sciatic notch, Telecanthus, Polycystic kidney dysplasia, Wide anterior fontanel, S... OMIM:263210
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa... OMIM:174200
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ... ORPHA:93323
Intellectual Disability And Myopathy Syndrome
Limited elbow extension, Scoliosis, Incisor macrodontia, Congenital hip dislocation, Broad nasal ... OMIM:619719
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Glossoptosis, Micrognathia, Pierre-Robin sequ... OMIM:311895
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Spin... ORPHA:2311
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Low hanging columella, Dental crowding, Scoliosis, Anteverted nares, H... OMIM:618825
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Zimmermann-Laband Syndrome
Supernumerary tooth, Wide nose, Gingival fibromatosis, Anterior open-bite malocclusion, Sensorine... ORPHA:3473
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Czeizel-Losonci Syndrome
Spina bifida occulta, Hitchhiker thumb, Hydrocephalus, Congenital megaureter, Single transverse p... ORPHA:2437
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck OMIM:608681
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Bilateral ptosis, Dislocated radial head, Kyphosis, Arachnodactyly, Syndactyl... OMIM:265000
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Cockayne Syndrome Type 2
Hypoplasia of the primary teeth, Anophthalmia, Mandibular prognathia, Scoliosis, Kyphosis, Hearin... ORPHA:90322
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Gingival Fibromatosis-Progressive Deafness Syndrome
Sensorineural hearing impairment, Gingival overgrowth, Gingival fibromatosis, Delayed eruption of... ORPHA:2027
Duane-Radial Ray Syndrome
Microphthalmia, Pectoralis hypoplasia, Sandal gap, Small thenar eminence, Short humerus, Absent t... OMIM:607323
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Impaired proprioception, Bone spicule pigmentation of the retina, Urinary incontin... OMIM:609033
Atkin-Flaitz Syndrome
Anteverted nares, Abnormality of the dentition, Everted lower lip vermilion, Maxillary lateral in... ORPHA:1193
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Babinski sign, Hammertoe, Spasticity, Scoliosis, Pigmentary retinopathy OMIM:619090
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Microtia, Stenosis of the external auditory canal, Glossoptosis, Everted lower l... OMIM:616367
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Proximal placement of thumb, Retinal dystrophy, Anophthalmia, Finger syndactyly, ... ORPHA:139471
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Palpebral edema, Death in childhood, Cubitus valgus, Talipes equinovarus, ... OMIM:214110
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Abno... ORPHA:1797
Anencephaly 2
Anencephaly, Anophthalmia, Median cleft palate, Bifid nose, Cleft maxillary alveolar ridge, Media... OMIM:619452
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Spondylocostal Dysostosis 5
Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs... OMIM:122600
Holoprosencephaly 9
Microphthalmia, Solitary median maxillary central incisor, Bilateral cleft palate, Optic nerve hy... OMIM:610829
Liang-Wang Syndrome
Gingival overgrowth, Everted lower lip vermilion, Synophrys, Downturned corners of mouth, Wide mo... OMIM:618729
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head,... OMIM:268310
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti... ORPHA:2228
Trichorhinophalangeal Syndrome Type 1
Supernumerary tooth, Protruding ear, Leukonychia, Long upper lip, Hyperlordosis, High palate, Abn... ORPHA:77258
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Microphthalmia, Coloboma, Syndactyly, Brachydactyly, Peters a... OMIM:610023
48,Xxxy Syndrome
Chronic otitis media, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular pr... ORPHA:96263
Coloboma Of Macula With Type B Brachydactyly
Coloboma, Absent distal phalanges, Broad distal phalanx of the thumb, Renal agenesis, Bifid dista... OMIM:120400
Bardet-Biedl Syndrome 14
Polydactyly, Rod-cone dystrophy, Renal insufficiency OMIM:615991
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp... OMIM:611555
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Short ribs, Femoral bowing, Short long bone, Absent tibia, Thoracic hypoplasia, ... OMIM:613091
Trisomy 17P
Hypertonia, Clinodactyly of the 5th finger, Broad eyebrow, Hypoplasia of penis, Polycystic kidney... ORPHA:261290
Trichorhinophalangeal Syndrome Type 2
Abnormal palate morphology, Supernumerary tooth, Genu valgum, Protruding ear, Low-set, posteriorl... ORPHA:502
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Bell-shaped thorax, Spina bifida occulta, Short thorax, Sco... OMIM:613686
Temple Syndrome
Recurrent otitis media, Short philtrum, Wide nose, Hydrocephalus, Anteverted nares, Scoliosis, Hi... OMIM:616222
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Cleidocranial Dysplasia
Chronic otitis media, Glossoptosis, Sinusitis, Hearing abnormality, Scoliosis, Dystrophic toenail... ORPHA:1452
Arthrogryposis, Distal, Type 12
Ankle flexion contracture, Dental crowding, Scoliosis, Agenesis of maxillary incisor, High palate... OMIM:620545
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Retrognathia, Overjet, Thick lower lip vermilion, Protruding ear, Short philtrum, Highly arched e... OMIM:618342
Trisomy 4P
Abnormal palate morphology, Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Sco... ORPHA:1738
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Highly arched eyebrow, Pectus excavatum, Joint hypermobility, Craniosynostosis, Overlapping toe, ... OMIM:213980
Atresia Of Urethra
Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux... ORPHA:105
Momo Syndrome
Thick lower lip vermilion, Delayed eruption of teeth, High palate, Underfolded helix, Smooth phil... OMIM:157980
Proximal 16P11.2 Microdeletion Syndrome
Paroxysmal dyskinesia, Abnormal vertebral morphology, Scoliosis, Speech apraxia, Hand polydactyly... ORPHA:261197
Spinocerebellar Ataxia, Autosomal Recessive 20
Kyphoscoliosis, Wide nasal base, Delayed eruption of teeth, Dental crowding, Scoliosis, Sensorine... OMIM:616354
Ramon Syndrome
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morpholog... ORPHA:3019
Tooth Agenesis, Selective, 3
Agenesis of permanent molar, Abnormal hair morphology, Oligodontia, Microdontia, Oligodontia of p... OMIM:604625
Aicardi Syndrome
Optic atrophy, Microphthalmia, Retinal detachment, Missing ribs, Rib fusion, Abnormality of skin ... ORPHA:50
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age... OMIM:313500
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Scoliosis, Dislocation... OMIM:619797
Aarskog-Scott Syndrome
Orofacial cleft, High anterior hairline, Low-set, posteriorly rotated ears, Delayed eruption of t... ORPHA:915
Bardet-Biedl Syndrome 13
Polydactyly, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal ... OMIM:615990
Acrorenal-Mandibular Syndrome
Kyphoscoliosis, Split foot, Hip dislocation, Hypoplasia of the ulna, Butterfly vertebrae, Hypopla... OMIM:200980
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Recurrent otitis media, Periarticular soft-tissue mass, Synovitis, Lumbar sc... OMIM:601492
Cerebrooculonasal Syndrome
Solitary median maxillary central incisor, Optic nerve hypoplasia, Broad philtrum, Long philtrum,... OMIM:605627
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Short nose, Abnormality of canine, Tarsal synostosis, Abnormally l... ORPHA:363417
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Highly arched eyebrow, Anteverted nares, Scoliosis, Low-set ears, Kyphosis, Abnor... ORPHA:404440
Nanophthalmos 4
Microphthalmia OMIM:615972
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Delayed eruption of teeth, Sensorineural hearing impairment, Prominent nasal brid... ORPHA:71267
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Pierre Robin Syndrome
Micrognathia, Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Hearing impairment, Bifid uvula OMIM:256200
Overhydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:185000
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, 11 pairs of ribs, Unilateral renal agenesis, Narrow chest, Renal hypoplasia, Chronic ... OMIM:617661
Burn-Mckeown Syndrome
Thin vermilion border, Bilateral choanal atresia, Bilateral choanal atresia/stenosis, Short philt... OMIM:608572
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Bifid uvula, Cleft palate, Ankle clonus ORPHA:506353
Oculofaciocardiodental Syndrome
Microphthalmia, Solitary median maxillary central incisor, Highly arched eyebrow, Sensorineural h... ORPHA:2712
Orofaciodigital Syndrome Type 2
Abnormal oral frenulum morphology, Tongue nodules, Taurodontia, Talon cusp, Unilateral alveolar c... ORPHA:2751
Sweeney-Cox Syndrome
Microtia, Widow's peak, Short philtrum, Choanal atresia, Hearing impairment, Broad nasal tip, Cru... OMIM:617746
Metatropic Dysplasia
Kyphoscoliosis, Narrow greater sciatic notch, Relatively short spine, Short ribs, Long coccyx, Cu... OMIM:156530
Coffin-Siris Syndrome 2
Thick lower lip vermilion, Short philtrum, Delayed eruption of teeth, Wide nose, Anteverted nares... OMIM:614607
Becker Nevus Syndrome
Hypermelanotic macule, Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Scolios... ORPHA:64755
Smith-Magenis Syndrome
Orofacial cleft, Everted upper lip vermilion, Abnormal middle ear morphology, Mandibular prognath... OMIM:182290
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Highly arched eyebrow, Bilateral sensorineural hearing impairment, Talon cusp,... OMIM:605282
Momo Syndrome
Bilateral microphthalmos, Thick lower lip vermilion, Wide nasal base, Delayed eruption of teeth, ... ORPHA:2563
Oculodentodigital Dysplasia
Abnormal form of the vertebral bodies, Broad alveolar ridges, Abnormal pinna morphology, Tooth ag... ORPHA:2710
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Supernumerary tooth, Agenesis of molar, Bicoronal synostosis, Scoliosis, Anosmia, Kyphosis, Micro... OMIM:619718
Bardet-Biedl Syndrome 11
Polydactyly, Abnormality of the kidney OMIM:615988
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,... ORPHA:49042
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Central posterior corneal opacity, Recurrent urinary tract infect... OMIM:244600
Catel-Manzke Syndrome
Chronic otitis media, Low-set, posteriorly rotated ears, Highly arched eyebrow, Scoliosis, Glosso... ORPHA:1388
Mesomelia-Synostoses Syndrome
Convex nasal ridge, High, narrow palate, Abnormality of the wrist, Genu valgum, Aplasia/Hypoplasi... ORPHA:2496
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment, Bifid uvula ORPHA:2669
Intellectual Developmental Disorder, Autosomal Recessive 44
Thin vermilion border, Anteverted nares, Bifid uvula, Long philtrum, Depressed nasal bridge OMIM:615942
Cloacal Exstrophy
Abnormal fibula morphology, Renal hypoplasia/aplasia, Abnormal tibia morphology, Ectopic kidney, ... ORPHA:93929
Verheij Syndrome
Optic nerve hypoplasia, Coloboma, Renal cyst, Renal agenesis, Renal hypoplasia, Clinodactyly, Int... OMIM:615583
Fryns Microphthalmia Syndrome
Tessier cleft, Microphthalmia, Neural tube defect, Anophthalmia, Bilateral cleft palate, Macrotia... OMIM:600776
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Short philtrum, Delayed eruption of teeth, Genu recurvatum, Prematur... ORPHA:137834
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor... ORPHA:98870
Kbg Syndrome
Radial deviation of finger, Ulnar deviation of the 2nd finger, Delayed skeletal maturation, Synda... OMIM:148050
Bardet-Biedl Syndrome 16
Polydactyly, Renal cyst, Renal agenesis, Retinal degeneration, Renal dysplasia, Rod-cone dystroph... OMIM:615993
Cohen Syndrome
High, narrow palate, Genu valgum, Cubitus valgus, Short philtrum, Hypoplasia of the maxilla, Micr... OMIM:216550
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Short nose, Gingival fibromatosis, Anteverted nares, Gingival overgrowth, Delayed c... ORPHA:1832
Papillorenal Syndrome
Microphthalmia, Stage 5 chronic kidney disease, Renal malrotation, Lens luxation, Macular degener... OMIM:120330
Craniometadiaphyseal Dysplasia
Genu valgum, Cubitus valgus, Abnormally large globe, Dental crowding, Mandibular prognathia, Scol... OMIM:269300
Distal Duplication 6P
Cataract, Aplasia/Hypoplasia affecting the eye, Renal hypoplasia, Hydronephrosis, Intrauterine gr... ORPHA:1745
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Recurrent otitis media, Short philtrum, Wide nose, Anteverted nares, Scoliosis, Narrow mouth, Hig... ORPHA:96184
Anonychia With Flexural Pigmentation
Convex nasal ridge, Carious teeth, Alopecia of scalp, Abnormal hair morphology ORPHA:69125
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Microphthalmia, Microcornea, Cataract, Optic disc pallor, Retinopathy, Thoracic sc... OMIM:616171
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... OMIM:609052
Nance-Horan Syndrome
Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped incisors, Macrotia, Prominent... OMIM:302350
Trichorhinophalangeal Syndrome, Type Iii
Supernumerary tooth, Protruding ear, Dental crowding, Scoliosis, Pear-shaped nose, Sparse lateral... OMIM:190351
Acro-Renal-Ocular Syndrome
Renal hypoplasia/aplasia, Sandal gap, Short humerus, Renal malrotation, Hypoplasia of the ulna, C... ORPHA:959
Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal agenesis, Abn... ORPHA:2260
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Short philtrum, Delayed eruption of teeth, Hypopigmentation of hair, Sensori... ORPHA:3214
Osteopathia Striata-Cranial Sclerosis Syndrome
Retrognathia, High, narrow palate, Spina bifida occulta, Delayed eruption of teeth, Scoliosis, Hy... ORPHA:2780
2Q24 Microdeletion Syndrome
Microphthalmia, Abnormality iris morphology, Coloboma, Bullet-shaped distal phalanx of the hallux... ORPHA:1617
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... OMIM:603860
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Abnormal sternum morphology, Pectus excavatum, Symphalangism affecting the p... ORPHA:2990
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Kyphoscoliosis, Platyspondyly, Delayed eruption of teeth, Dislocated radial head, High palate, Ca... OMIM:612350
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Abnormal form of the vertebral bodies, Highly arched eyebrow, Kyphosis, ... ORPHA:280
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft lower alveolar ridge, Hip subluxation, Aplasia of the epiglottis, Protruding ear, High pala... OMIM:268305
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Wide anterior fontanel, Epiphyseal stippling OMIM:614859
Epidermal Nevus Syndrome
Osteopenia, Babinski sign, Hypertonia, Astigmatism, Hyperpigmentation of the skin, Polycystic kid... ORPHA:35125
Microphthalmia ORPHA:35612
8Q22.1 Microdeletion Syndrome
Abnormal nostril morphology, Abnormal antihelix morphology, Highly arched eyebrow, Abnormal pinna... ORPHA:178303
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Microphthalmia, Short long bone, Corneal opacity, Short metacarpal,... ORPHA:85167
Distal Triplication 15Q
Abnormality of the kidney, Telecanthus, Polycystic kidney dysplasia, Scoliosis, Corneal dystrophy... ORPHA:314588
Craniolenticulosutural Dysplasia
Bifid uvula, Wide mouth, Sparse hair, Long philtrum, Delayed closure of the anterior fontanelle, ... OMIM:607812
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Abnormality of the dentition, Celiac disease, Micrognathia, Cleft palate, Bifid uvul... ORPHA:576283
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ... ORPHA:2973
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Narrow palate, Retrognathia, Wide nose, Low-set ears, Bifid uvula, Wide mouth, Craniosynostosis, ... OMIM:620428
Isolated Klippel-Feil Syndrome
Renal hypoplasia/aplasia, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormal... ORPHA:2345
Orofaciodigital Syndrome Iii
Supernumerary tooth, Low-set ears, Microdontia, Kyphosis, Bifid uvula, Tongue nodules, Bulbous no... OMIM:258850
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Micrognathia, Unilateral wrist flexion contracture, Knee flexion contracture, Absent uvula OMIM:616531
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Sjögren-Larsson Syndrome
Corneal erosion, Macular degeneration, Scoliosis, Spasticity, Kyphosis, Retinopathy, Joint stiffn... ORPHA:816
Holoprosencephaly 7
Microphthalmia, Solitary median maxillary central incisor, Bilateral cleft palate, Unilateral cle... OMIM:610828
Biemond Syndrome Type 2
Hydrocephalus, Preaxial polydactyly, Microphthalmia, Hypospadias ORPHA:141333
Hajdu-Cheney Syndrome
Kyphoscoliosis, Dislocated radial head, Biconcave vertebral bodies, Crowded carpal bones, Patholo... OMIM:102500
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Sandal gap, Joint contracture of the 5th finger, 2-3 toe syndactyly, Joint contra... OMIM:618914
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal intervertebral disk morp... ORPHA:2635
Cranioectodermal Dysplasia 4
Thin vermilion border, Anteverted nares, Smooth philtrum, Protruding ear, Sagittal craniosynostos... OMIM:614378
Temple-Baraitser Syndrome
Everted upper lip vermilion, Everted lower lip vermilion, Wide mouth, Long philtrum, Anteverted n... ORPHA:420561
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Clinodactyly of the 5th finger, Hydranencephaly, Single transverse palmar crease, 2-3... OMIM:236500
Tonne-Kalscheuer Syndrome
Widely spaced teeth, Narrow mouth, Velopharyngeal insufficiency, Downturned corners of mouth, Mic... OMIM:300978
Codas Syndrome
Hydroureter, Abnormal pelvic girdle bone morphology, Short metacarpal, Congenital hip dislocation... ORPHA:1458
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical... OMIM:220150
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Scoliosis, Tremor, Ataxia OMIM:213000
Spondylocarpotarsal Synostosis Syndrome
Pectus carinatum, Hyperlordosis, Short metacarpal, Delayed skeletal maturation, Tarsal synostosis... OMIM:272460
Gorlin Syndrome
Abnormal vertebral morphology, Iris coloboma, Palmar pits, Telecanthus, Vertebral wedging, Scolio... ORPHA:377
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Ectopic kidney, Metacarpal synostosis, Pectus e... OMIM:212780
Acrootoocular Syndrome
Kyphoscoliosis, Supernumerary tooth, Grayish enamel, High, narrow palate, Wide nasal base, Abnorm... ORPHA:2980
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Hematuria, Chorioretinal coloboma, Cataract, Iris coloboma OMIM:120433
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Patchy alopecia, Hypoplasia of the maxilla, Camptodactyly of finger, Prominent nasal... ORPHA:85279
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Thin vermilion border, Short philtrum, Highly arched eyebrow, Mandibular prognathia, Lumbar hyper... OMIM:618622
Orofaciodigital Syndrome Xvii
Polydactyly, Clubbing of fingers, Central Y-shaped metacarpal, Renal hypoplasia, Partial duplicat... OMIM:617926
Auriculocondylar Syndrome 2A
Short mandibular rami, Dental crowding, Mandibular condyle hypoplasia, Temporomandibular joint an... OMIM:614669
Split-Hand/Foot Malformation 3
Nail dystrophy, Abnormal pinna morphology, High palate, Narrow mouth, Hypoplasia of the maxilla, ... OMIM:246560
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Short nose, Anteverted nares, Exaggerated cupid's bow, Low-set ears, Wide mouth, Thick vermilion ... OMIM:618506
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly, Postaxial hand polydactyly, Bowing of the l... OMIM:611561
Prune Belly Syndrome
Hydroureter, Pectus carinatum, Pectus excavatum, Congenital hip dislocation, Hydronephrosis, Cong... OMIM:100100
Taurodontia OMIM:272700
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Hypopigmented skin patches, Glomerulopathy, Sandal gap, Scoliosis, Spasticity, Cat... ORPHA:2715
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Pectus carinatum, Bowing of the long bones, Renal agenesis, Renal hypoplasia, Short ... ORPHA:171839
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Hip osteoarthritis, Delayed eruption of teeth ORPHA:63442
7Q31 Microdeletion Syndrome
Childhood onset sensorineural hearing impairment, Scoliosis, Low-set ears, Prominent nose, Hypopl... ORPHA:251061
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Scoliosis, Narrow mouth, High palate, Hearing impairment, Micrognathia... OMIM:613849
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormal palate morphology, Hearing abnormality, Abnormality of the dentition, Prominent nose, Ca... ORPHA:3270
Otopalatodigital Syndrome Type 1
Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Short hallux, Increased ... ORPHA:90650
Parc Syndrome
Absent eyelashes, Absent eyebrow, Cleft palate, Microretrognathia, Alopecia OMIM:600331
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Depressed nasal ridge, Abnormal eyebrow morphology, Generalized hirsut... ORPHA:1816
Bardet-Biedl Syndrome 4
Polydactyly, Abnormality of the kidney, Renal cyst, Syndactyly, Brachydactyly, Retinal degenerati... OMIM:615982
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Microphthalmia, Hematuria, Retinal detachment, Corneal opacity, Posterior embryoto... ORPHA:1473
Spinocerebellar Ataxia 43
Limb ataxia, Distal sensory impairment, Pectus carinatum, Tremor, Gait ataxia, Rigidity, Ataxia, ... OMIM:617018
Autosomal Recessive Robinow Syndrome
Bilateral single transverse palmar creases, Abnormal hip bone morphology, Sandal gap, Hypoplasia ... ORPHA:1507
Rhyns Syndrome
Osteopenia, Nephronophthisis, Abnormal long bone morphology, Multicystic kidney dysplasia, Small ... ORPHA:140976
Auriculocondylar Syndrome 3
Retrognathia, Stenosis of the external auditory canal, Bilateral conductive hearing impairment, G... OMIM:615706
Aredyld Syndrome
Advanced eruption of teeth, Low-set, posteriorly rotated ears, Craniofacial hyperostosis, Abnorma... ORPHA:1133
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Coffin-Siris Syndrome 11
Esophageal atresia, Cleft soft palate, High palate, Low posterior hairline, Prominent metopic rid... OMIM:618779
Nance-Horan Syndrome
Supernumerary tooth, Microphthalmia, Mandibular prognathia, Abnormality of the dentition, Promine... ORPHA:627
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormality of nail color, High anterior hairline, Abnormal dental enamel morphology, Sensorineur... ORPHA:3220
Kleefstra Syndrome 2
Scoliosis, Everted lower lip vermilion, Kyphosis, Bifid uvula, Thick eyebrow OMIM:617768
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Absent stapes head, Abnormal pinna morphology, Bilateral conductive hearing impairment, Abnormali... OMIM:128980
Cleft Velum
Recurrent otitis media, Cleft soft palate, Hypoplasia of the maxilla, Conductive hearing impairme... ORPHA:99772
Isolated Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis ORPHA:718
Joubert Syndrome 15
Preaxial polydactyly, Nephronophthisis, Exencephaly, Micropenis OMIM:614464
Stickler Syndrome Type 1
Short nose, Platyspondyly, Abnormal vertebral epiphysis morphology, Sensorineural hearing impairm... ORPHA:90653
Lujan-Fryns Syndrome
Short philtrum, Dental crowding, Scoliosis, High palate, Abnormality of the dentition, Low-set ea... ORPHA:776
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Short philtrum, Scoliosis, Mandibular prognathia, Kyphosis, Prominent metopic ridge, Synophrys, C... ORPHA:85317
Juberg-Hayward Syndrome
Hypoplasia of the radius, Abnormal vertebral morphology, Abnormality of the wrist, Hypospadias, A... ORPHA:2319
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Widely spaced teeth, Mandibular prognathia, Oligodontia, Scoliosis, Micr... OMIM:601216
Adams-Oliver Syndrome 4
Microphthalmia, Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes... OMIM:615297
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Trisomy 1Q
Wide nose, Anophthalmia, Hydrocephalus, Narrow mouth, Low-set ears, Anal atresia, Camptodactyly o... ORPHA:261344
Joubert Syndrome 16
Polydactyly, Nephronophthisis, Encephalocele, Retinal dystrophy, Coloboma, Renal cyst OMIM:614465
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Retrognathia, Sensorineural hearing impairment, Umbilical hernia, Narrow palate, Oligodontia, Sco... OMIM:235510
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
X-Linked Intellectual Disability Due To Gria3 Mutations
Narrow palate, Short philtrum, Genu recurvatum, Mandibular prognathia, Scoliosis, Short upper lip... ORPHA:364028
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Anteverted nares, Ectopic anus, Microtia, High palate, Aplasia... ORPHA:1703
Kbg Syndrome
Finger clinodactyly, Telecanthus, Single transverse palmar crease, Scoliosis, Thoracic kyphosis, ... ORPHA:2332
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204650
Aicardi Syndrome
Optic atrophy, Microphthalmia, Proximal placement of thumb, Retinal detachment, Missing ribs, Spi... OMIM:304050
Joubert Syndrome 7
Nephronophthisis, Genu valgum, Retinal dystrophy, Oculomotor apraxia, Scoliosis, Postaxial hand p... OMIM:611560
Craniofacial-Deafness-Hand Syndrome
Short nose, Abnormality of the wrist, Sensorineural hearing impairment, Narrow mouth, Depressed n... ORPHA:1529
Beaulieu-Boycott-Innes Syndrome
Long nose, High anterior hairline, Low hanging columella, Carious teeth, Velopharyngeal insuffici... OMIM:613680
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Synophrys, Widely-spaced incisors, Hypoplasia of the maxilla, Thick eyebrow, Smooth philtrum, Pro... OMIM:618737
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Abnormal palate morphology, Alopecia of scalp, Low-set, posteriorly ro... ORPHA:2617
Cerebrooculofacioskeletal Syndrome 1
Kyphoscoliosis, Thin vermilion border, Abnormality of the ear, Microphthalmia, Delayed eruption o... OMIM:214150
Acrofacial Dysostosis, Weyers Type
Tessier cleft, Advanced eruption of teeth, Nail dystrophy, Solitary median maxillary central inci... ORPHA:952
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor, Tiger tail banding, Coarse hair OMIM:616390
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Abnormal mandible morphology, Natal tooth OMIM:217150
Congenital Muscular Dystrophy With Intellectual Disability
Scoliosis, Poor gross motor coordination, Decreased cervical spine mobility, Hip dislocation, Mul... ORPHA:370968
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Low-set ears, High anterior hairline, Notched primary central incisor, Sparse scalp hair OMIM:620062
Craniolenticulosutural Dysplasia
Thin vermilion border, Wide nose, Delayed eruption of teeth, Brittle hair, Premature loss of teet... ORPHA:50814
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Retrognathia, Mandibular prognathia, Camptodactyly of finger, Micrognathia, Bifid uvula, Cleft pa... ORPHA:2521
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Disproportionate shortening of the tibia, Retinal dystrophy, Postaxial pol... OMIM:263520
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Biconvex vertebral bodies, Reduced bone mineral density, Hypoplastic ... ORPHA:93315
Myopathy, Centronuclear, 5
Retrognathia, Narrow mouth, High palate, Micrognathia, Bifid uvula, Hip contracture OMIM:615959
Branchiootorenal Syndrome 1
Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplasia of the cochlea,... OMIM:113650
Meckel Syndrome, Type 2
Polydactyly, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Postaxial hand polydactyly,... OMIM:603194
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Hypopigmented skin patches, Melanocytic nevus, Irregular hyperpigmentation, Abnormal rib morphology ORPHA:2435
Bardet-Biedl Syndrome 9
Polydactyly, Astigmatism, Bone spicule pigmentation of the retina, Postaxial hand polydactyly, Po... OMIM:615986
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Thin vermilion border, Short philtrum, Premature loss of teeth, Multiple small vertebral fracture... OMIM:156510
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short nose, Abnormal middle ear morphology, Abnormal antihelix morphology, Microtia, Underdevelop... ORPHA:79113
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Scoliosis, High palate, Kyphosis, Hypoplasia of the maxilla, Prominent nas... OMIM:300676
Cleft Palate, Isolated
Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate OMIM:119540
Orofaciodigital Syndrome Xix
Retrognathia, Bifid nasal tip, Microdontia, Low posterior hairline, Accessory oral frenulum, Tong... OMIM:620107
Stickler Syndrome, Type I
Beaking of vertebral bodies, Arthritis, Scoliosis, Arthropathy, Sensorineural hearing impairment,... OMIM:108300
Crouzon Syndrome
Narrow palate, Hydrocephalus, Choanal atresia, Multiple suture craniosynostosis, Hearing impairme... ORPHA:207
Marshall Syndrome
Short nose, Thick lower lip vermilion, Platyspondyly, Recurrent otitis media, Absent frontal sinu... OMIM:154780
Ring Chromosome 14 Syndrome
Almond-shaped palpebral fissure, Downslanted palpebral fissures, Epicanthus, Short neck, Blepharo... OMIM:616606
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Sensorineural hearing impairment, Anteverted nares, Pierre-Robin sequence, Cleft palate, Malar fl... OMIM:184840
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Depressed na... ORPHA:181
Hall-Riggs Syndrome
Thick hair, Delayed eruption of teeth, Slow-growing hair, Abnormal dental enamel morphology, Scol... ORPHA:2107
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Cri-Du-Chat Syndrome
Premature graying of hair, Orofacial cleft, Thick lower lip vermilion, Short philtrum, Anterior o... OMIM:123450
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Increased laxity of... ORPHA:750
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Anteverted nares, Scoliosis, Hearing impairment, Cleft upper lip, Bifid uvula, Cleft palate, Bulb... OMIM:300958
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Microphthalmia, Astigmatism, Abnormal renal morphology, Optic nerve hyp... OMIM:609053
Renal Coloboma Syndrome
Optic nerve dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Retinal coloboma, Ren... ORPHA:1475
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1909
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia, Thoracic kyphoscoliosis, Prominent nose, Carious teeth, Large fleshy ears, Generalized ... OMIM:203550
Peroxisome Biogenesis Disorder 5A (Zellweger)
Palpebral edema, Death in adolescence, Death in infancy, Persistent open anterior fontanelle, Ren... OMIM:614866
Spastic paraplegia, Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Carnos... OMIM:236130
Neuralgic Amyotrophy
Bifid uvula, Narrow mouth, Cleft palate ORPHA:2901
Mullegama-Klein-Martinez Syndrome
Sensorineural hearing impairment, Microtia, Bifid uvula, Long philtrum, Absent stapes, Short phil... OMIM:301022
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Microphthalmia, Syndromic 5
Microphthalmia, Retinal dystrophy, Anophthalmia, Optic nerve hypoplasia, Microcornea, Coloboma, C... OMIM:610125
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Kyphoscoliosis, Advanced ossification of carpal bones, Genu valgum, Mand... OMIM:618363
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, M... OMIM:616300
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon... ORPHA:2790
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Megacystis, Hydronephrosis, Hydroureter OMIM:619431
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Postaxial polydactyly, Cone/cone-rod dystrophy, Attenuat... OMIM:614500
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Pierre-Robin sequence, Cleft palate OMIM:172880
Acrocraniofacial Dysostosis
Advanced eruption of teeth, Genu valgum, Low-set, posteriorly rotated ears, Short philtrum, Abnor... ORPHA:949
Treacher-Collins Syndrome
Retrognathia, Microphthalmia, Microtia, Glossoptosis, Tracheoesophageal fistula, Tooth agenesis, ... ORPHA:861
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Supernumerary tooth, Abnormal antihelix morphology, Carious teeth, Micrognathia, Conductive heari... ORPHA:3145
Uvula, Bifid
Bifid uvula OMIM:192100
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Hallermann-Streiff Syndrome
Microphthalmia, Hyperlordosis, Everted lower lip vermilion, Sparse hair, Fine hair, Narrow nose, ... OMIM:234100
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, 11 pairs of ribs, Hypospadias, Anophthalmia, Hypoplasia of penis, Sclerocornea, I... ORPHA:77298
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Fused cervical vertebrae, Hypospadias, Abnormal hip bone morphology... ORPHA:2522
Aase-Smith Syndrome
Scoliosis, Abnormal pinna morphology, Camptodactyly of finger, Cleft palate, Trismus ORPHA:916
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Microphthalmia, Uraciluria, Elevated urinary dihydrothymine level, Coloboma OMIM:274270
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Hemivertebrae, Short ribs, Thin ribs, Missing ribs, Rib fusion, Hydronephrosis, Block ... OMIM:271520
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal palate morphology, Hearing abnormality, Anteverted nares, Narrow mouth, Depressed nasal ... ORPHA:2412
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Long eyebrows, Long eyelashes, Central heterochromia, Retinal degeneration, ... OMIM:275400
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Spondylolisthesis, Pectus carinatum, Craniosynostosis, Cervical spinal canal stenosis, Tarsal syn... OMIM:178110
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Erythroid hype... OMIM:617021
Bardet-Biedl Syndrome 12
Polydactyly, Cystic renal dysplasia, Hydroureter, Postaxial hand polydactyly, Hydronephrosis, Pos... OMIM:615989
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti... OMIM:615113
Meier-Gorlin Syndrome 8
Intrauterine growth retardation, Unilateral renal hypoplasia, Nephroptosis OMIM:617564
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome