Gene Summary

Name:
decorin
Synonyms:
SLRR1B,  DC

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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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.

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

DSS Histology

Images

6 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 73 images

View all 6 images

Human diseases caused by Dcn mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Congenital Stromal
OMIM:610048

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Gastric Cancer
Stomach cancer OMIM:613659
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Van Der Woude Syndrome
Cleft upper lip, Hypodontia, Cleft palate, Lip pit, Abnormal salivary gland morphology, Lower lip... ORPHA:888
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Cleft upper lip, Cleft palate, Stomach cancer OMIM:137215
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Periodontal Ehlers-Danlos Syndrome
Gingival overgrowth, Periodontitis, Hypermelanotic macule, Micrognathia, Agenesis of permanent te... ORPHA:75392
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Elastosis Perforans Serpiginosa
Cutis laxa, Skin-colored papule, Serpiginous cutaneous lesion, Annular cutaneous lesion, Skin pla... ORPHA:79148
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Premature Ovarian Failure 15
Oligomenorrhea OMIM:618096
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis OMIM:614196
Granulomatous Slack Skin
Cutis laxa, Redundant skin, Erythema, Acute kidney injury, Nephrocalcinosis ORPHA:33111
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Horseshoe kidney, Thin skin, Increased urinary 8-oxo-7,8-dihydro... OMIM:613630
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent fungal infections, Recu... OMIM:611521
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
2p15-16.1 microdeletion syndrome
Camptodactyly of finger, Hydronephrosis DECIPHER:70
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Ehlers-Danlos Syndrome, Periodontal Type, 1
Premature loss of teeth, Periodontitis, Soft skin, Palmoplantar cutis laxa, Gingival bleeding, Gi... OMIM:130080
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Elastoderma
Cutis laxa, Premature skin wrinkling, Eczema, Erysipelas, Papule, Skin nodule ORPHA:228240
Ring Chromosome 8 Syndrome
Abnormal palate morphology, Abnormality of the ureter, Hydronephrosis ORPHA:1450
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Bifid uvula, Hydronephrosis ORPHA:2669
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Dermoodontodysplasia
Dry skin, Hypodontia, Thin skin OMIM:125640
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Hypodontia, Abnormality of the dentition, Eczema, Premature loss of primary teeth, Thin skin, Thi... ORPHA:1810
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... OMIM:256100
Amyloidosis, Finnish Type
Nephrotic syndrome, Renal insufficiency, Cutis laxa OMIM:105120
6P22 Microdeletion Syndrome
Abnormal palate morphology, Redundant skin, Patent ductus arteriosus, Hydronephrosis ORPHA:251046
Ehlers-Danlos Syndrome, Classic Type, 2
Molluscoid pseudotumors, Soft, doughy skin, Subcutaneous spheroids, Soft skin, Recurrent sinusiti... OMIM:130010
Congenital Primary Megaureter
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... ORPHA:617
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Dental malocclusion, Hypodontia, Joint contracture of the hand, Camptodactyly of fin... OMIM:612350
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Growth Factors, Combined Defect Of
Narrow mouth, Flexion contracture, Micrognathia, Thin skin, Dermal atrophy OMIM:233805
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... OMIM:606966
Alport Syndrome
Nephrotic syndrome, Renal glomerular foam cells, Mesangial hypercellularity, Nephritis, Thickenin... ORPHA:63
Congenital Heart Defects And Ectodermal Dysplasia
Premature loss of primary teeth, Dry skin, Microdontia, Widely spaced teeth, Thin skin OMIM:617364
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Duodenal ulcer, St... ORPHA:263665
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... OMIM:613496
Absence Of Fingerprints-Congenital Milia Syndrome
Camptodactyly of finger, Milia, Thin skin, Skin rash ORPHA:1658
X-Linked Intellectual Disability, Schimke Type
High palate, Hip contracture, Elbow flexion contracture, Knee flexion contracture, Hydronephrosis... ORPHA:85285
Acrogeria
Excessive wrinkled skin, Micrognathia, Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer ORPHA:2500
Dermoodontodysplasia
Tooth agenesis, Microdontia, Dry skin, Thin skin, Melanocytic nevus, Mandibular prognathia ORPHA:1660
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Redundant skin, Increased number of skin folds, Cutis laxa, Papule ORPHA:436274
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... OMIM:604387
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Narrow mouth, Flexion contracture, Cutis laxa, Gingivitis, Atypical scarring of skin, Thin skin, ... ORPHA:75496
Oculogastrointestinal Muscular Dystrophy
Malabsorption, Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Spo... ORPHA:1876
Congenital Disorder Of Glycosylation, Type Iir
Micrognathia, Hypospadias, Cutis laxa OMIM:301045
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, Stage 5 chronic kidney disease OMIM:618913
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Abnormal tubulointerstitial morphology, Chronic kidney disease, Nephropathy OMIM:602114
Macdermot-Winter Syndrome
Camptodactyly of finger, Hydronephrosis OMIM:247990
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Petechiae, Renal tubular atrophy, Decreased glomerular filtration rate, Renal... ORPHA:85450
Prolidase Deficiency
Micrognathia, Erythema, Dry skin, Papule, Carious teeth, Aplasia/Hypoplasia of the skin, Hypoplas... ORPHA:742
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Tubulointerstitial fibrosis OMIM:232500
Hereditary Acrokeratotic Poikiloderma
Abnormality of the dentition, Eczema, Abnormal pigmentation of the oral mucosa, Skin ulcer, Ankyl... ORPHA:2907
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Stomach can... ORPHA:2494
Myopathy, Congenital, Progressive, With Scoliosis
High palate, Facial hypotonia, Micrognathia, Hydronephrosis, Renal atrophy, Congenital contractur... OMIM:618578
Gapo Syndrome
Eruption failure, High, narrow palate, Abnormality of the dentition, Epidermoid cyst, Micrognathi... OMIM:230740
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... ORPHA:1652
Weaver Syndrome
Hypoplasia of penis, Retrognathia, Micrognathia, Camptodactyly of finger, Redundant skin, Long ph... ORPHA:3447
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Cd8 Deficiency, Familial
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections OMIM:608957
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Congenital diaphragmatic hernia, Soft skin, Hypospadias, Carious teeth, Camptodactyl... OMIM:617602
Variant Abeta2M Amyloidosis
Gastrointestinal infarctions, Intestinal perforation, Abnormality of the tongue, Abnormal salivar... ORPHA:314652
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Brooke-Spiegler Syndrome
Abnormality of the sublingual glands, Salivary gland neoplasm, Abnormality of the submandibular g... ORPHA:79493
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia of the bladder, Aplasia cutis congenita on trunk or limbs, Oral mucosal blisters, Skin er... ORPHA:158684
Arthrochalasia Ehlers-Danlos Syndrome
Retrognathia, Micrognathia, Hyperextensible skin, Thin skin ORPHA:1899
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Tooth agenesis, Nephrotic syndrome, Abnormality of the dentition, Eczema, Dry skin, Hy... ORPHA:238468
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hyperextensible skin, Thin skin, Flexion contracture, Thenar muscle atrophy ORPHA:157965
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... OMIM:266900
Focal Dermal Hypoplasia
Abnormal dental enamel morphology, Macule, Diastasis recti, Tooth agenesis, Renal hypoplasia/apla... ORPHA:2092
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Tubulointerstitial fibrosis, Enlarged kidney, ... OMIM:263200
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Skeletal muscle hypertrophy, Xanthomatosis, Advanced eruption of teeth, Abnormality... ORPHA:2348
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Abnormality of the dentition, Oligodontia, Aplasia cutis congenita, Small, conical teeth ORPHA:79499
Kosaki Overgrowth Syndrome
Hyperextensible skin, Thin upper lip vermilion, Thin skin OMIM:616592
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Preauricular pit, Preauricular skin tag, Abnormal localization of kidne... ORPHA:195
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... OMIM:143400
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Aplasia/Hypoplasia of the skin, Macule, Dermal atrophy ORPHA:1962
Gastric Volvulus, Intrathoracic
Hiatus hernia, Volvulus OMIM:137210
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... ORPHA:93101
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Redundant skin, Cutis laxa, Papule ORPHA:91135
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Cleft palate, Micrognathia, Hydronephrosis, Arthrogryposis multiplex congenita, Vesicoureteral re... OMIM:618265
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Petechiae, Atypical scarring of skin, Striae distensae, Thin skin, Hyperextensible skin OMIM:225310
19Q13.11 Microdeletion Syndrome
Wide mouth, Retrognathia, Thin vermilion border, Hypospadias, Dry skin, Solitary median maxillary... ORPHA:217346
Focal Facial Dermal Dysplasia Type Iii
Abnormality of the upper urinary tract, Short philtrum, Redundant skin, Aplasia/Hypoplasia of the... ORPHA:1807
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Melena, Gastric adenocarcinoma OMIM:619182
Rapp-Hodgkin Syndrome
Cleft upper lip, Narrow mouth, Recurrent otitis media, Velopharyngeal insufficiency, Hypodontia, ... OMIM:129400
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Micrognathia, Redundant skin, Cleft palate ORPHA:1779
X-Linked Ehlers-Danlos Syndrome
Hyperextensible skin, Thin skin ORPHA:75497
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:613944
Distal Trisomy 6P
Narrow mouth, Thin vermilion border, Micrognathia, Abnormality of the urinary system, Dry skin, R... ORPHA:1745
Muir-Torre Syndrome
Neoplasm of the liver, Salivary gland neoplasm, Adenoma sebaceum, Colon cancer, Neoplasm of the s... ORPHA:587
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Abnormal glomerular mesangium... ORPHA:567544
Inflammatory Bowel Disease (Crohn Disease) 30
Ileitis, Gastritis, Pancolitis, Protein-losing enteropathy, Esophagitis, Duodenitis, Abnormal int... OMIM:619079
Trichorhinophalangeal Syndrome Type 2
Supernumerary tooth, Abnormality of the dentition, Redundant skin, Recurrent urinary tract infect... ORPHA:502
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Hyperextensible skin, Distal lower limb muscle weakness, Distal upper limb amyotrophy, Distal low... OMIM:619764
8P23.1 Duplication Syndrome
Thick vermilion border, Long philtrum, Hydronephrosis ORPHA:251076
Chromosome 18P Deletion Syndrome
High palate, Tooth malposition, Micropenis, Micrognathia, Redundant neck skin OMIM:146390
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Purpura, Proteinuria, Stage 5 chronic kid... OMIM:161950
Cranioectodermal Dysplasia 4
Taurodontia, Cutis laxa, Thin vermilion border, Recurrent pneumonia, Stage 5 chronic kidney disea... OMIM:614378
Scarf Syndrome
Diastasis recti, Cutis laxa, Micropenis, Long philtrum, Enamel hypoplasia, Hypocalcification of d... ORPHA:3134
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Thin vermilion border, Micrognathia, Short philtrum, Skin dimple, Thin skin ORPHA:261304
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Decreased glomerular filtration rate, Reduced renal corticomedullary d... OMIM:602522
Tetraploidy
Renal hypoplasia/aplasia, Cleft palate, Micrognathia, Short philtrum, Preauricular skin tag, Hydr... ORPHA:3305
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Erythematous plaque, Milia, Thin skin, Crusting erythematous dermatitis, Dermal atrophy ORPHA:158673
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Soft skin, Hyperextensible skin, Thin skin, Atrophic scars OMIM:225320
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis, Cutis laxa, Premature skin wrinkling OMIM:616603
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Congenital absence of skin of limbs, Aplasia cutis congenita OMIM:600360
Macs Syndrome
High palate, Gingival overgrowth, Cutis laxa, Soft skin, Eclabion, Micrognathia, Redundant skin, ... OMIM:613075
Familial Cervical Artery Dissection
Facial palsy, Striae distensae, Thin skin ORPHA:36382
Orofaciodigital Syndrome Xv
Hydronephrosis, Lobulated tongue OMIM:617127
Renal Failure, Progressive, With Hypertension
Nephritis, Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease OMIM:161900
Vesicoureteral Reflux 3
Hydroureter, Vesicoureteral reflux, Hydronephrosis OMIM:613674
Silver-Russell Syndrome 2
Downturned corners of mouth, Micrognathia, Thin skin OMIM:618905
Juvenile Hyaline Fibromatosis
Gingival overgrowth, Gingival fibromatosis, Papule, Aplasia/Hypoplasia of the skin, Progressive f... ORPHA:2028
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Skin ulcer, Purpura, Thin skin ORPHA:743
Pituitary Adenoma 4, Acth-Secreting
Nephrolithiasis, Facial erythema, Purpura, Striae distensae, Thin skin, Ecchymosis, Skeletal musc... OMIM:219090
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Cleft palate, Retrognathia, Microdontia, Dry skin, Hypoplasia of the zygomat... ORPHA:1812
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Widely spaced teeth, Patent ductus arteriosus, Hydronephrosis, Thick l... OMIM:619797
Musculocontractural Ehlers-Danlos Syndrome
High palate, Nephrolithiasis, Narrow mouth, Microretrognathia, Cleft palate, Recurrent skin infec... ORPHA:2953
Recombinant Chromosome 8 Syndrome
Gingival overgrowth, Joint contracture of the hand, Malar flattening, Abnormality of the dentitio... OMIM:179613
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Trichothiodystrophy 8, Nonphotosensitive
Cutis laxa, Retrognathia, Eczema, Long philtrum, Thin upper lip vermilion OMIM:619691
Hinman Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... ORPHA:84085
Rafiq Syndrome
Malar flattening, Flexion contracture, Cutis laxa, Short philtrum, Thin upper lip vermilion, Smoo... OMIM:614202
Cranioectodermal Dysplasia 3
Nephronophthisis, Everted lower lip vermilion, Cutis laxa, Micrognathia, Dry skin, Widely spaced ... OMIM:614099
Dysmyelination With Jaundice
Hydroureter, Hypoplasia of penis, Hydronephrosis OMIM:224250
Urofacial Syndrome 2
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... OMIM:615112
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrolithiasis, Thyroiditis, Periodontitis, Pancreatitis, Enterocolitis, Gout, Inflammation of t... ORPHA:79259
Immunodeficiency 49
Inflammatory abnormality of the skin, Cutis laxa, Micrognathia, Short philtrum, Natal tooth OMIM:617237
Posterior Urethral Valve
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Retrognathia, Recurrent urinary trac... ORPHA:93110
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Porokeratosis Of Mibelli
Aplasia/Hypoplasia of the skin, Pruritus ORPHA:735
Salivary Duct Calculi
Parotitis OMIM:181010
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Recurrent otitis media, High, narrow palate, Cleft palate, Renal agenesis, Long philtrum, Renal h... OMIM:618494
Ulerythema Ophryogenesis
Dry skin, Facial erythema, Contact dermatitis, Erythematous papule, Acne, Hyperkeratotic papule, ... ORPHA:3406
Weyers Ulnar Ray/Oligodactyly Syndrome
Cleft upper lip, High palate, Cleft palate, Micrognathia, Solitary median maxillary central incis... OMIM:602418
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Aplasia/Hypoplasia of the skin, Purpura, Thin skin ORPHA:745
Congenital Disorder Of Glycosylation, Type Iig
High palate, Cleft palate, Micrognathia, Left ventricular hypertrophy, Hypospadias, Camptodactyly... OMIM:611209
Spondyloenchondrodysplasia With Immune Dysregulation
Hypopigmented skin patches on arms, Hypermelanotic macule, Juvenile rheumatoid arthritis, Rheumat... OMIM:607944
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Hyperextensible skin, Excessive skin wrinkling on dorsum of hands and fingers, Decreased muscle m... OMIM:608763
Xanthinuria, Type I
Xanthinuria, Hydronephrosis, Myopathy, Pyelonephritis, Xanthine nephrolithiasis OMIM:278300
Basel-Vanagaite-Smirin-Yosef Syndrome
Cleft palate, Everted lower lip vermilion, Hypospadias, Short philtrum, Tented upper lip vermilio... OMIM:616449
Agel Amyloidosis
Cutis laxa, Dry skin, Keratoconjunctivitis sicca, Diffuse skin atrophy, Proteinuria, Pruritus, To... ORPHA:85448
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Junctional Epidermolysis Bullosa With Pyloric Atresia
Aplasia of the bladder, Oral mucosal blisters, Ureterocele, Recurrent skin infections, Renal dupl... ORPHA:79403
Glass Syndrome
High palate, Narrow mouth, Cleft palate, Malar flattening, Micrognathia, Oligodontia, Camptodacty... OMIM:612313
Bor Syndrome
Renal hypoplasia/aplasia, Cleft palate, Retrognathia, Multicystic kidney dysplasia, Preauricular ... ORPHA:107
Arima Syndrome
Wide mouth, Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Polycystic kidn... OMIM:243910
Bohring-Opitz Syndrome
Cleft upper lip, Narrow mouth, Narrow palate, Flexion contracture, Cutis laxa, Retrognathia, Micr... OMIM:605039
Zaki Syndrome
High palate, Wide mouth, Congenital diaphragmatic hernia, Renal agenesis, Micrognathia, Short phi... OMIM:619648
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract infections, Hydronephrosis, ... OMIM:191800
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Narrow mouth, Malar flattening, Short philtrum, Ureteral duplication, Bifid ureter, Thin skin, In... OMIM:601347
Short Syndrome
Dental malocclusion, Hypodontia, Micrognathia, Delayed eruption of teeth, Downturned corners of m... OMIM:269880
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... OMIM:611548
Lethal Congenital Contracture Syndrome 2
Micrognathia, Hydronephrosis, Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:607598
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Scaling skin, Cutis laxa, Pruritus OMIM:105250
Cutis Laxa, Autosomal Recessive, Type Iiia
Narrow mouth, Thin skin, Cutis laxa OMIM:219150
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Self-Improving Dystrophic Epidermolysis Bullosa
Oral mucosal blisters, Skin erosion, Carious teeth, Milia, Atrophic scars, Aplasia cutis congenita ORPHA:79411
Classical-Like Ehlers-Danlos Syndrome Type 1
Hyperextensible skin, Skeletal muscle atrophy, Thin skin ORPHA:230839
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, High, narrow palate, Flexion contracture, Joint contracture of the h... ORPHA:536516
Hereditary Xanthinuria
Crystalluria, Rheumatoid arthritis, Recurrent urinary tract infections, Xanthinuria, Hematuria, G... ORPHA:3467
Man1B1-Cdg
Malar flattening, Cutis laxa, Eclabion, Short philtrum, Thick vermilion border, Multiple cafe-au-... ORPHA:397941
Branchio-Oculo-Facial Syndrome
High palate, Postauricular pit, Tooth agenesis, Everted lower lip vermilion, Renal agenesis, Supr... ORPHA:1297
Suleiman-El-Hattab Syndrome
High palate, Wide mouth, Blue nevus, Microretrognathia, Long philtrum, Preauricular skin tag, Dow... OMIM:618950
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Abnormality of the diaphragm, Ureteral atresia, Hydronephrosis OMIM:183802
Progeroid Syndrome, Petty Type
Tooth agenesis, Cutis laxa, Everted lower lip vermilion, Redundant skin, Shagreen patch, Mandibul... ORPHA:2963
Aldh18A1-Related De Barsy Syndrome
Hyperextensible skin ORPHA:35664
Axenfeld-Rieger Syndrome
Hypodontia, Everted lower lip vermilion, Hypospadias, Redundant skin, Microdontia, Hypoplasia of ... ORPHA:782
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Williams-Beuren Region Duplication Syndrome
High palate, Unilateral renal agenesis, Micrognathia, Short philtrum, Diastema, Chronic otitis me... OMIM:609757
Urofacial Syndrome 1
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... OMIM:236730
Scarf Syndrome
Diastasis recti, Cutis laxa, Micropenis, Long philtrum, Enamel hypoplasia, Webbed neck, Perineal ... OMIM:312830
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Arthrogrypos... OMIM:236500
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Cutis Laxa, Autosomal Recessive, Type Iie
High palate, Long philtrum, Cutis laxa, Thick lower lip vermilion OMIM:619451
Renal Hypodysplasia/Aplasia 2
Redundant skin OMIM:615721
Lenz-Majewski Hyperostotic Dwarfism
Chordee, Cutis laxa, Abnormality of the dentition, Micrognathia, Hypospadias, Elbow flexion contr... OMIM:151050
Atrophoderma Vermiculata
Skin pit, Erythema, Hypoplastic pilosebaceous units, Periauricular skin pits, Pruritus, Atrophic ... ORPHA:79100
Adult Syndrome
Hypodontia, Oligodontia, Eczema, Microdontia, Dry skin, Oral cleft, Premature loss of permanent t... OMIM:103285
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Taurodontia, Hypodontia, Everted lower lip vermilion, Soft skin, Eczema, Periorbital wrinkles, Mi... OMIM:305100
C Syndrome
High palate, Wide mouth, Accessory oral frenulum, Renal cortical cysts, Cutis laxa, Micrognathia,... OMIM:211750
Trisomy 17P
High palate, Wide mouth, Narrow mouth, Hypoplasia of penis, Cleft palate, Macroglossia, Malar fla... ORPHA:261290
Cutis Laxa, Autosomal Recessive, Type Iiib
Flexion contracture, Cutis laxa, Thin vermilion border, Excessive wrinkled skin, Elbow flexion co... OMIM:614438
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal penis morphology, Dry skin, Thin skin, Subcutaneous nodule, Multiple cafe-au-lait spots ORPHA:457059
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Bladder diverticulum, Mollu... OMIM:225400
Mitochondrial Complex I Deficiency, Nuclear Type 30
Redundant skin OMIM:301021
Primary Pigmented Nodular Adrenocortical Disease
Nephrolithiasis, Striae distensae, Thin skin, Acne, Increased urinary cortisol level, Proximal am... ORPHA:189439
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Gingival overgrowth, Gingival hyperkeratosis, Hypodontia, Recurrent mandibular subluxations, Ever... OMIM:225410
Mandibuloacral Dysplasia
High palate, Dental crowding, Micrognathia, Contractures of the large joints, Thin skin, Abnormal... ORPHA:2457
Cardiac-Valvular Ehlers-Danlos Syndrome
High palate, Tendon rupture, Soft, doughy skin, Left ventricular hypertrophy, Thin skin, Atrophic... ORPHA:230851
Cutis Laxa, Autosomal Recessive, Type Ic
Bladder diverticulum, Malar flattening, Cutis laxa, Retrognathia, Micrognathia, Long philtrum, Hy... OMIM:613177
Fanconi Anemia, Complementation Group O
Small thenar eminence, Renal cyst, Hydronephrosis, Stage 5 chronic kidney disease OMIM:613390
Geroderma Osteodysplastica
Malar flattening, Redundant skin, Thin skin, Hyperextensible skin, Mandibular prognathia ORPHA:2078
Joubert Syndrome 35
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis OMIM:618161
Ablepharon Macrostomia Syndrome
Wide mouth, Hypoplasia of penis, Thin vermilion border, Excessive wrinkled skin, Camptodactyly of... ORPHA:920
X-Linked Intellectual Disability Due To Gria3 Mutations
Narrow palate, Macrodontia of permanent maxillary central incisor, Malar flattening, Micropenis, ... ORPHA:364028
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
High palate, Aminoaciduria, Micrognathia, Renal hypoplasia, Hydronephrosis, Calcinosis OMIM:617913
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Skeletal muscle hypertrophy, Xanthomatosis, Calf muscle pseudohypertrophy, Abnormal... ORPHA:79083
Trisomy 13
High, narrow palate, Cleft palate, Malar flattening, Abnormality of the dentition, Abnormality of... ORPHA:3378
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Bladder diverticulum, Cutis laxa, Cleft soft palate, Soft skin, Type 1 muscle fiber predominance,... OMIM:614557
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Lymphadenitis, Inflammation of the large intestine, Thin skin, Erythroderma, Skeletal mus... OMIM:615895
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Eclabion, Scaling skin, Dry skin, Cutis laxa ORPHA:2269
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
High palate, Wide mouth, Accessory oral frenulum, Macroglossia, Nephronophthisis, Reduced renal c... OMIM:266920
Frontometaphyseal Dysplasia 1
High palate, Dental malocclusion, Hypoplasia of the musculature, Persistence of primary teeth, Cl... OMIM:305620
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
High palate, Dental malocclusion, Cleft palate, Diaphragmatic eventration, Long philtrum, Distal ... OMIM:618975
Toluene Embryopathy
Thin vermilion border, Micrognathia, Hypoplasia of the zygomatic bone, Abnormal localization of k... ORPHA:1920
Cutis Laxa, Autosomal Dominant 2
Cutis laxa, Premature skin wrinkling OMIM:614434
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thin vermilion border, Long philtrum, Cutis laxa OMIM:614800
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Acrofacial Dysostosis Syndrome Of Rodriguez
High palate, Narrow mouth, Micrognathia, Short philtrum, Thin skin OMIM:201170
Esophageal Ring, Lower
Dysphagia, Hiatus hernia OMIM:133240
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Thin skin OMIM:259410
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Ve... ORPHA:2704
Serrated Polyposis Syndrome
Adenomatous colonic polyposis, Ovarian neoplasm, Neoplasm of the large intestine, Colorectal poly... ORPHA:157798
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Soft skin, Limb-girdle muscle ... OMIM:112250
Pseudoprogeria Syndrome
Thin skin ORPHA:2985
Cutis Laxa, Autosomal Recessive, Type Iia
High palate, Narrow mouth, Malar flattening, Cutis laxa, Redundant skin, Long philtrum, Carious t... OMIM:219200
Even-Plus Syndrome
High palate, Hypodontia, Atopic dermatitis, Recurrent urinary tract infections, Renal hypoplasia,... OMIM:616854
Carey-Fineman-Ziter Syndrome
High palate, Aplasia/Hypoplasia of the tongue, Cleft palate, Glossoptosis, Micrognathia, Thin ver... ORPHA:1358
Stiff Skin Syndrome
Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Nephrolithiasis, Subcutaneous nodule ORPHA:2833
Progressive Hemifacial Atrophy
Aplasia/Hypoplasia of the skin, Micrognathia, Abnormal mandible morphology ORPHA:1214
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Flexion contracture of finger, Macroglossia, Flexion contracture, Retrognathia, ... ORPHA:254528
Reynolds Syndrome
Dysphagia, Abnormal gastric mucosa morphology, Xerostomia, Gastroesophageal reflux ORPHA:779
Dermatosparaxis Ehlers-Danlos Syndrome
Retrognathia, Micrognathia, Excessive wrinkled skin, Thin skin, Esophagitis, Hyperextensible skin ORPHA:1901
Oculocerebral Hypopigmentation Syndrome, Cross Type
Narrow mouth, Abnormality of the urinary system, Ureteral stenosis, Microdontia, Thin skin, Abnor... ORPHA:2719
Desmoid Tumor
Abnormality of the upper urinary tract, Hydronephrosis, Subcutaneous nodule ORPHA:873
Netherton Syndrome
Aminoaciduria, Skin rash, Eczema, Dry skin, Ectopic kidney, Hydronephrosis, Erythroderma ORPHA:634
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Cleft upper lip, Bladder diverticulum, Blepharitis, Cleft palate, Malar flattening, Micropenis, A... OMIM:129900
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis, Abnormality of the musculature of the limbs ORPHA:3327
Axial Mesodermal Dysplasia Spectrum
Gingival overgrowth, Renal hypoplasia/aplasia, Congenital diaphragmatic hernia, Micrognathia, Abn... ORPHA:1834
Microphthalmia, Lenz Type
Renal hypoplasia/aplasia, Abnormality of the dentition, Camptodactyly of finger, Hypospadias, Hyd... ORPHA:568
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased size of the mandible, Hydronephrosis, Patent ductus arteriosus, Smooth philtrum OMIM:300048
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Cutis laxa OMIM:614100
Cutis Laxa-Marfanoid Syndrome
Redundant skin, Congenital diaphragmatic hernia, Flexion contracture ORPHA:171719
Diabetic Embryopathy
Renal hypoplasia/aplasia, Cleft palate, Micropenis, Micrognathia, Aplasia/Hypoplasia of the abdom... ORPHA:1926
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Striae distensae, Thin skin OMIM:610489
Brain Malformations With Or Without Urinary Tract Defects
Narrow mouth, Renal hypoplasia, Hydronephrosis, Thin upper lip vermilion, Vesicoureteral reflux OMIM:613735
Xeroderma Pigmentosum
Keratitis, Macule, Craniofacial hyperostosis, Blepharitis, Hypermelanotic macule, Aminoaciduria, ... ORPHA:910
Autosomal Recessive Cutis Laxa Type 2, Classic Type
High palate, Malar flattening, Cutis laxa, Excessive wrinkled skin, Redundant skin, Long philtrum... ORPHA:357074
Cutis Laxa, Autosomal Recessive, Type Ia
Bladder diverticulum, Redundant skin, Congenital diaphragmatic hernia, Cutis laxa OMIM:219100
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Cutis laxa, Hyperextensible skin, Long upper lip, Cleft palate OMIM:615349
Intellectual Disability, Buenos-Aires Type
High palate, Dental malocclusion, Open bite, Abnormality of dental morphology, Hydronephrosis, Ma... ORPHA:3079
Kury-Isidor Syndrome
High palate, Triangular mouth, Long philtrum, Widely spaced teeth, Tented upper lip vermilion, Hy... OMIM:619762
De Barsy Syndrome
High palate, Narrow mouth, Cutis laxa, Excessive wrinkled skin, Delayed eruption of teeth, Patent... ORPHA:2962
Exostoses With Anetodermia And Brachydactyly, Type E
Dermal atrophy OMIM:133690
Periventricular Nodular Heterotopia
Patent ductus arteriosus, Thin skin ORPHA:98892
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
High palate, Multiple joint contractures, Torticollis, Dentinogenesis imperfecta, Soft, doughy sk... ORPHA:536467
Sucrosuria, Hiatus Hernia And Mental Retardation
Hiatus hernia OMIM:272000
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Flexion contracture, Abnormality of the dentition, Lack of skin elasticity, Thin ski... ORPHA:90153
Distal Tetrasomy 15Q
High palate, Flexion contracture, Retrognathia, Micrognathia, Abnormality of the kidney, Nephrobl... ORPHA:314588
X-Linked Dominant Chondrodysplasia Punctata
High palate, Flexion contracture, Erythematous plaque, Scaling skin, Hydronephrosis, Erythroderma... ORPHA:35173
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Anetoderma, Dermal atrophy OMIM:250450
Koolen-De Vries Syndrome
Narrow palate, High, narrow palate, Cleft palate, Hypodontia, Everted lower lip vermilion, Abnorm... ORPHA:96169
8P Inverted Duplication/Deletion Syndrome
Wide mouth, High, narrow palate, Everted lower lip vermilion, Retrognathia, Micrognathia, Abnorma... ORPHA:96092
Lamellar Ichthyosis
Everted lower lip vermilion, Abnormality of the dentition, Lack of skin elasticity, Chronic otiti... ORPHA:313
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Micrognathia, Camptodactyly of finger, Hypoplasia of penis, Hydronephrosis ORPHA:2083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Muscular dystrophy, Renal dysplasia, Renal cyst, Hydronephrosis OMIM:615287
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Pancreatitis, Skeletal muscle hypertrophy, Micrognathia, Xanthomatosis, Advanced eruption of teet... ORPHA:280365
Ogden Syndrome
Torticollis, Microretrognathia, High, narrow palate, Cutis laxa, Capillary malformation, Everted ... ORPHA:276432
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Gout, Renal ... OMIM:162000
Mesomelia-Synostoses Syndrome
Narrow mouth, High, narrow palate, Malar flattening, Micrognathia, Aplasia/Hypoplasia of the uvul... ORPHA:2496
Intermediate Generalized Junctional Epidermolysis Bullosa
Oral mucosal blisters, Enamel hypoplasia, Milia, Atrophic scars, Scarring alopecia of scalp, Apla... ORPHA:79402
Igg4-Related Submandibular Gland Disease
Sialadenitis, Abnormal pancreas morphology, Xerostomia, Abnormal salivary gland morphology, Abnor... ORPHA:449432
Prune Belly Syndrome
Hydroureter, Aplasia of the abdominal wall musculature, Patent ductus arteriosus, Hydronephrosis,... OMIM:100100
Rahman Syndrome
Nevus, Redundant skin, Camptodactyly OMIM:617537
Stuve-Wiedemann Syndrome 1
Pursed lips, Malar flattening, Premature skin wrinkling, Thin vermilion border, Micrognathia, Car... OMIM:601559
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Dry skin, Cutis laxa OMIM:612379
Marshall-Smith Syndrome
Gingival overgrowth, Retrognathia, Protruding tongue, Thin skin, Open mouth ORPHA:561
Fibrinolytic Defect
Hyperextensible skin OMIM:134900
Takenouchi-Kosaki Syndrome
Wide mouth, Dental malocclusion, Unilateral renal agenesis, Hypospadias, Short philtrum, Long phi... OMIM:616737
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Malar flattening, Soft skin, Premature osteoarthritis, Atrophic scars, Hyperextensible skin OMIM:130060
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hyperextensible skin OMIM:615937
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Cutis laxa OMIM:270420
Pseudoxanthoma Elasticum
Yellow papule, Renovascular hypertension, Cutis laxa, White oral mucosal macule OMIM:264800
Localized Junctional Epidermolysis Bullosa
Skin detachment, Enamel hypoplasia, Abnormality of dental color, Milia, Dental enamel pits, Limb ... ORPHA:251393
Dystrophic Epidermolysis Bullosa Pruriginosa
Subcutaneous nodule, Papule, Milia, Skin plaque, Pruritus, Atrophic scars, Dermal atrophy ORPHA:89843
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Cleft palate, Micropenis, Micrognathia, Hypospadias, Unilateral cleft lip, H... OMIM:616897
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Gingival overgrowth, Narrow mouth, Narrow palate, Joint contracture of the hand, Malar flattening... OMIM:235510
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Premature loss of teeth, Periodontitis, Dentinogenesis imperfecta, Retrognathia, Moderate albumin... OMIM:619269
Rin2 Syndrome
High palate, Gingival overgrowth, Redundant skin, Long philtrum, Irregular dentition, Hyperextens... ORPHA:217335
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Torticollis, Unilateral renal atrophy, Nephritis, Renal dysplasia, Keloids, Melanocytic nevus, Py... OMIM:314300
Intrinsic Factor Deficiency
Malabsorption, Absence of intrinsic factor OMIM:261000
Blepharonasofacial Malformation Syndrome
Tooth agenesis, Cleft palate, Redundant skin, Long philtrum, Non-midline cleft lip ORPHA:1252
Cardiofaciocutaneous Syndrome
High palate, Webbed neck, Excessive wrinkled skin, Redundant skin, Long philtrum, Dry skin, Multi... ORPHA:1340
Autosomal Recessive Cutis Laxa Type 1
Cutis laxa, Lack of skin elasticity, Urethral diverticulum, Recurrent urinary tract infections, R... ORPHA:90349
Geroderma Osteodysplasticum
Periodontitis, Malar flattening, Cutis laxa, Neonatal wrinkled skin of hands and feet, Camptodact... OMIM:231070
Meier-Gorlin Syndrome 1
High palate, Narrow mouth, Joint contracture of the hand, Cleft palate, Flexion contracture, Micr... OMIM:224690
Recombinant 8 Syndrome
Cleft upper lip, Gingival overgrowth, Cleft palate, Abnormality of the dentition, Micrognathia, C... ORPHA:96167
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormality of the dentition, Thin skin OMIM:607823
Focal Facial Dermal Dysplasia Type I
Thick upper lip vermilion, Downturned corners of mouth, Skin dimple, Atrophic scars, Spotty hypop... ORPHA:79133
Genitopatellar Syndrome
Hip contracture, Micrognathia, Multicystic kidney dysplasia, Long philtrum, Delayed eruption of t... ORPHA:85201
Developmental Delay With Or Without Dysmorphic Facies And Autism
Wide mouth, Congenital diaphragmatic hernia, Cleft palate, Micrognathia, Short philtrum, Cleft li... OMIM:618454
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polyuria, Hydronephrosis OMIM:304900
Kyphoscoliotic Ehlers-Danlos Syndrome
High palate, Bladder diverticulum, Soft, doughy skin, Micrognathia, Thin skin, Hyperextensible sk... ORPHA:536545
Thanatophoric Dysplasia
Abnormality of the kidney, Patent ductus arteriosus, Redundant skin ORPHA:2655
Costello Syndrome
Narrow palate, Macroglossia, Abnormality of the dentition, Lack of skin elasticity, Redundant ski... ORPHA:3071
Cardiac Valvular Dysplasia, X-Linked
Thick vermilion border, Cutis laxa OMIM:314400
Eec Syndrome
Keratitis, Blepharitis, Tooth agenesis, Taurodontia, Renal hypoplasia/aplasia, Cleft palate, Uret... ORPHA:1896
Chromosome 2P16.1-P15 Deletion Syndrome
High palate, High, narrow palate, Joint contracture of the hand, Everted lower lip vermilion, Ret... OMIM:612513
Ehlers-Danlos Syndrome, Classic-Like
Unilateral renal agenesis, Soft skin, Muscle fiber splitting, Hyperextensible skin, Vesicouretera... OMIM:606408
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Nephrotic syndrome, Deep dermal perivascular inflammatory infiltrate, Rheumatoid arthrit... ORPHA:49041
Hyperkeratosis Lenticularis Perstans
Aplasia/Hypoplasia of the skin, Skin ulcer, Pruritus, Papule ORPHA:409
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Narrow mouth, Long upper lip, Cleft palate, Flexion contracture, Cut... ORPHA:536471
Combined Oxidative Phosphorylation Deficiency 5
Retrognathia, Redundant neck skin, Abnormal renal tubule morphology OMIM:611719
Carpenter Syndrome 1
High palate, Persistence of primary teeth, Joint contracture of the hand, Malar flattening, Micro... OMIM:201000
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Yellow papule, Cutis laxa OMIM:610842
Trisomy 1Q
Narrow mouth, Microretrognathia, Congenital diaphragmatic hernia, Cleft palate, Congenital megaur... ORPHA:261344
Ablepharon-Macrostomia Syndrome
Wide mouth, Micropenis, Redundant skin, Dry skin, Hypoplasia of the zygomatic bone, Camptodactyly... OMIM:200110
Emanuel Syndrome
High palate, Multiple joint contractures, Cleft palate, Delayed eruption of teeth, Submucous clef... ORPHA:96170
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
High palate, Limb hypertonia, Hydronephrosis, Cleft palate ORPHA:488613
Ritscher-Schinzel Syndrome 1
Micrognathia, Hydronephrosis, Hypospadias, Cleft palate OMIM:220210
Kleefstra Syndrome
Hypoplasia of penis, Macroglossia, Everted lower lip vermilion, Malar flattening, Micropenis, Hyp... ORPHA:261494
22Q11.2 Duplication Syndrome
Cleft palate, Micrognathia, Urethral stenosis, Hydronephrosis, Displacement of the urethral meatu... ORPHA:1727
Melnick-Needles Syndrome
Tooth malposition, Micrognathia, Delayed eruption of teeth, Hydronephrosis, Vesicoureteral reflux... ORPHA:2484
Coffin-Lowry Syndrome
High palate, Wide mouth, Narrow palate, Hypodontia, Everted lower lip vermilion, Redundant skin, ... ORPHA:192
Restrictive Dermopathy 1
Narrow mouth, Temporomandibular joint ankylosis, Skin erosion, Flexion contracture, Micrognathia,... OMIM:275210
15Q Overgrowth Syndrome
High palate, Microretrognathia, High, narrow palate, Malar flattening, Retrognathia, Micrognathia... ORPHA:314585
Benign Schwannoma
Intestinal polyposis, Abnormal esophagus morphology, Abnormal parotid gland morphology ORPHA:252164
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypodontia, Micropenis, Retrognathia, Hypospadias, Duplicated collecting system, Arthrogryposis m... OMIM:301056
Khan-Khan-Katsanis Syndrome
Triangular mouth, Flexion contracture, Micrognathia, Renal hypoplasia, Tented upper lip vermilion... OMIM:618460
Noonan Syndrome 4
Wide mouth, Dental malocclusion, Ureteral duplication, Hydronephrosis, Thick vermilion border, We... OMIM:610733
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Cleft palate, Preauricular pit, Downturned corners of mouth, Patent ductus art... ORPHA:457193
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Glomerular basement membrane disruption, Nephritis, Stage... OMIM:609057
Adult Syndrome
Melanocytic nevus, Abnormality of the dentition, Dry skin, Thin skin, Skin ulcer, Abnormality of ... ORPHA:978
Thanatophoric Dysplasia Type 2
Abnormality of the kidney, Patent ductus arteriosus, Redundant skin ORPHA:93274
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Oral mucosal blisters, Esophageal stenosis OMIM:619817
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Striae distensae, Thin skin OMIM:219080
Hypermobile Ehlers-Danlos Syndrome
Gingival overgrowth, Tendon rupture, Cystocele, Soft skin, Abnormality of the dentition, Aplasia/... ORPHA:285
Barber-Say Syndrome
High palate, Wide mouth, Dental malocclusion, Gingival overgrowth, Velopharyngeal insufficiency, ... OMIM:209885
Systemic Lupus Erythematosus
Nephritis, Arthritis, Lupus nephritis, Malar rash, Pericarditis OMIM:152700
Ehlers-Danlos Syndrome, Classic-Like, 2
High palate, Micrognathia, Osteoarthritis, Redundant skin, Atrophic scars, Hyperextensible skin, ... OMIM:618000
Cutis Laxa, Autosomal Recessive, Type Iib
High palate, Malar flattening, Excessive wrinkled skin, Lack of skin elasticity, Redundant skin, ... OMIM:612940
Arterial Tortuosity Syndrome
High palate, Congenital diaphragmatic hernia, Flexion contracture, Cutis laxa, Soft, doughy skin,... OMIM:208050
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Alveolar ridge overgrowth, Cleft palate, Malar flattening, Micropenis, Micrognathia,... OMIM:235255
Craniofaciofrontodigital Syndrome
Gingival overgrowth, Prominent median palatal raphe, Macroglossia, Cutis laxa, Palmoplantar cutis... ORPHA:363705
Ehlers-Danlos Syndrome, Hypermobility Type
Soft skin, Hyperextensible skin, Osteoarthritis, Striae distensae OMIM:130020
Complement Factor I Deficiency
Recurrent skin infections, Recurrent urinary tract infections, Recurrent sinusitis, Renal insuffi... OMIM:610984
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Striae distensae, Thin skin OMIM:610475
Alg8-Cdg
Premature skin wrinkling, Cutis laxa, Macroglossia, Camptodactyly ORPHA:79325
Mandibuloacral Dysplasia With Type B Lipodystrophy
Narrow mouth, Abnormality of the dentition, Micrognathia, Thin skin, Calcinosis, Dermal atrophy ORPHA:90154
Severe Generalized Junctional Epidermolysis Bullosa
Ureteral obstruction, Urinary retention, Pneumonia, Erosion of oral mucosa, Gastrointestinal infl... ORPHA:79404
Marden-Walker Syndrome
Cleft palate, Abnormality of the upper urinary tract, Skeletal muscle atrophy, Retrognathia, Micr... ORPHA:2461
Cranioectodermal Dysplasia 2
High palate, Cleft palate, Everted lower lip vermilion, Retrognathia, Micrognathia, Fused teeth, ... OMIM:613610
Czeizel-Losonci Syndrome
High palate, Congenital megaureter, Micrognathia, Abnormality of the urinary system, Ureteral age... ORPHA:2437
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Urethritis, Lymphadenitis, Ureteral obstruction, Hematu... ORPHA:449395
Joubert Syndrome 37
High palate, Hydronephrosis, Micropenis OMIM:619185
Tooth Agenesis, Selective, 4
Tooth agenesis, Agenesis of permanent teeth, Dry skin, Thin skin, Abnormality of primary teeth, P... OMIM:150400
Orofaciodigital Syndrome Type 1
High palate, Cleft palate, Abnormality of the dentition, Lobulated tongue, Tongue nodules, Protei... ORPHA:2750
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Hyperextensible skin, Skeletal muscle atrophy, Myopathy, Atrophic scars ORPHA:300179
46,Xy Sex Reversal 4
High palate, Cleft palate, Micrognathia, Long philtrum, Renal dysplasia, Ureteropelvic junction o... OMIM:154230
Ogden Syndrome
High palate, Abnormality of the dentition, Short philtrum, Eczema, Enlarged kidney, Everted upper... OMIM:300855
Endove Syndrome, Limb-Brain Type
Osteomyelitis, Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis OMIM:619218
Trisomy 20P
Everted lower lip vermilion, Thin vermilion border, Abnormality of the dentition, Short philtrum,... ORPHA:261318
Epidermolysis Bullosa, Junctional 1B, Severe
Congenital localized absence of skin, Carious teeth, Enamel hypoplasia, Milia, Atrophic scars OMIM:226700
Kaufman Oculocerebrofacial Syndrome
High palate, Narrow mouth, Micrognathia, Diastema, Carious teeth, Preauricular skin tag, Thin ski... OMIM:244450
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
High palate, Triangular mouth, Preauricular pit, Long philtrum, Bifid uvula, Deep philtrum, Widel... OMIM:617506
Johanson-Blizzard Syndrome
Hypoplasia of penis, Abnormality of the dentition, Oligodontia, Hypospadias, Delayed eruption of ... ORPHA:2315
Autosomal Dominant Cutis Laxa
Bladder diverticulum, Cutis laxa, Premature skin wrinkling, Unilateral renal agenesis, Redundant ... ORPHA:90348
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Papule, Aplasia/Hypoplasia of the skin, Dermal atrophy, Myopathy, Skin vesicle, Abnormal dental e... ORPHA:257
Tarp Syndrome
High palate, Cleft palate, Glossoptosis, Micrognathia, Tongue nodules, Horseshoe kidney, Hydronep... OMIM:311900
Pseudoxanthoma Elasticum
High palate, Skin rash, Excessive wrinkled skin, Lack of skin elasticity, Subcutaneous nodule, St... ORPHA:758
Webb-Dattani Syndrome
Retrognathia, Vesicoureteral reflux, Neurogenic bladder, Hydronephrosis OMIM:615926
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Mosaic Trisomy 8
High palate, Cleft palate, Micrognathia, Camptodactyly of finger, Arthrogryposis multiplex congen... ORPHA:96061
Kindler Epidermolysis Bullosa
Cheilitis, Periodontitis, Colitis, Flexion contracture, Recurrent skin infections, Camptodactyly ... ORPHA:2908
9Q21.13 Microdeletion Syndrome
Abnormal tongue morphology, Downturned corners of mouth, Hydronephrosis ORPHA:531151
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Wide mouth, Joint contracture of the hand, Cleft palate, Short philtrum, Camptodactyly, Widely sp... OMIM:280000
Anauxetic Dysplasia 3
Retrognathia, Oligodontia, Cutis laxa OMIM:618853
Lenz-Majewski Hyperostotic Dwarfism
Wide mouth, High, narrow palate, Cleft palate, Abnormal penis morphology, Hypospadias, Redundant ... ORPHA:2658
Al-Gazali Syndrome
Micrognathia, Recurrent pneumonia, Hydronephrosis, Wrist flexion contracture OMIM:609465
Weaver Syndrome
Diastasis recti, Joint contracture of the hand, Cutis laxa, Retrognathia, Long philtrum, Camptoda... OMIM:277590
Raine Syndrome
High palate, Wide mouth, Gingival overgrowth, Narrow mouth, Cleft palate, Malar flattening, Micro... OMIM:259775
Arterial Tortuosity Syndrome
Malar flattening, Redundant skin, Myocarditis, Median cleft lip and palate, Abnormal zygomatic bo... ORPHA:3342
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Narrow mouth, Microretrognathia, Congenital diaphragmatic hernia, Cleft palate, Cutis laxa, Micro... OMIM:245600
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Soft, doughy skin, Duplicated collecting system, Esophagitis, Hydronephrosis, Dermal translucency... ORPHA:541423
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Redundant neck skin OMIM:619003
Koolen-De Vries Syndrome
High palate, Cleft upper lip, Narrow palate, Cleft palate, Everted lower lip vermilion, Eczema, R... OMIM:610443
Al Amyloidosis
Macroglossia, Xerostomia, Abnormality of the gastrointestinal tract, Abnormal salivary gland morp... ORPHA:85443
Occipital Horn Syndrome
High palate, Bladder diverticulum, Soft skin, Redundant skin, Ureteral obstruction, Long philtrum... OMIM:304150
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Mandibular prognathia, Thin skin, Recurrent otitis media ORPHA:449291
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Sialadenitis, Euthyroid goiter, Nodular goiter, Pancreatic fi... ORPHA:64744
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
High palate, Eczematoid dermatitis, Redundant skin, Erythema, Arthritis, Patent ductus arteriosus... OMIM:259100
Lichen Planopilaris
Papule, Neoplasm of the oral cavity, Hepatitis, Pruritus, Skin ulcer, Hypopigmented skin patches,... ORPHA:525
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Barber-Say Syndrome
Wide mouth, Redundant skin, Delayed eruption of teeth, Aplasia/Hypoplasia of the skin, Hyperexten... ORPHA:1231
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
High palate, Ureteral hypoplasia, Congenital diaphragmatic hernia, Cleft palate, Bladder trabecul... OMIM:614080
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Narrow palate, Long-chain dicarboxylic aciduria, Ureteral duplication, Enlarged kidn... OMIM:608836
Wiedemann-Rautenstrauch Syndrome
Abnormality of the dentition, Short philtrum, Limb hypertonia, Retrognathia, Recurrent urinary tr... ORPHA:3455
Papillorenal Syndrome
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Soft ... OMIM:120330
3C Syndrome
High, narrow palate, Cleft palate, Hypoplasia of penis, Micrognathia, Hypospadias, Oral cleft, Pr... ORPHA:7
C Syndrome
High palate, Gingival overgrowth, Accessory oral frenulum, Renal hypoplasia/aplasia, Congenital d... ORPHA:1308
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Wide mouth, Dental malocclusion, Flexion contracture, Unilateral renal agenesis, Hypospadias, Sho... ORPHA:487796
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Aplasia cutis congenita on trunk or limbs, Oral mucosal blisters, Enamel hypoplasia, Milia, Arthr... OMIM:226730
Teebi-Shaltout Syndrome
Wide mouth, Narrow mouth, High, narrow palate, Cleft palate, Oligodontia, Ureteral stenosis, Camp... OMIM:272950
Cushing Disease
Recurrent cutaneous fungal infections, Intra-oral hyperpigmentation, Purpura, Striae distensae, T... ORPHA:96253
Classical-Like Ehlers-Danlos Syndrome Type 2
High palate, Premature loss of teeth, Periodontitis, Narrow palate, Tooth malposition, Long uvula... ORPHA:536532
Vacterl/Vater Association
Hypoplasia of penis, Congenital diaphragmatic hernia, Cleft palate, Renal agenesis, Hypospadias, ... ORPHA:887
Basel-Vanagaite-Smirin-Yosef Syndrome
Nevus flammeus of the forehead, Cleft palate, High, narrow palate, Retrognathia, Everted lower li... ORPHA:464738
Microcephaly 26, Primary, Autosomal Dominant
Gingival overgrowth, Long philtrum, Protruding tongue, Recurrent pneumonia, Hydronephrosis OMIM:619179
Fryns Syndrome
High palate, Wide mouth, Congenital diaphragmatic hernia, Cleft palate, Micrognathia, Hypospadias... ORPHA:2059
Congenital Disorder Of Glycosylation, Type Iie
Narrow mouth, Retrognathia, Micrognathia, Protruding tongue, Hydronephrosis, Thick vermilion bord... OMIM:608779
Cap Polyposis
Atrophic gastritis, Colorectal polyposis, Hematochezia ORPHA:160148
Cousin Syndrome
Alveolar ridge overgrowth, Joint contracture of the hand, Cleft palate, Micrognathia, Wrist flexi... OMIM:260660
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
Nijmegen Breakage Syndrome
Cleft upper lip, Sinusitis, Malar prominence, Cleft palate, Otitis media, Micrognathia, Recurrent... OMIM:251260
Alport Syndrome 3, Autosomal Dominant
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... OMIM:104200
Granulomatosis With Polyangiitis
Sinusitis, Prostatitis, Pancreatitis, Abnormal oral cavity morphology, Skin rash, Otitis media, H... ORPHA:900
Wiedemann-Rautenstrauch Syndrome
Narrow mouth, Hypodontia, Malar flattening, Flexion contracture, Thin vermilion border, Micrognat... OMIM:264090
Cerebellar-Facial-Dental Syndrome
Alveolar ridge overgrowth, Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary c... ORPHA:444072
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Micrognathia, Diaphragmatic eventration, Renal hypoplasia, Horse... OMIM:601186
Mosaic Trisomy 9
High palate, Hypoplasia of penis, Cleft palate, Micrognathia, Camptodactyly of finger, Multiple r... ORPHA:99776
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Gingival overgrowth, Dagger-shaped pulp calcifications, Pol... OMIM:204690
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Alveolar ridge overgrowth, Micropenis, Micrognathia, Abnormal renal morphology, Hydr... ORPHA:1655
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
U-Shaped upper lip vermilion, Hypoplasia of penis, Macroglossia, Everted lower lip vermilion, Fle... ORPHA:847
Chime Syndrome
Supernumerary tooth, Hypodontia, Cleft palate, Abnormality of the dentition, Short philtrum, Abno... ORPHA:3474
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re... OMIM:203780
Kabuki Syndrome
High palate, Renal hypoplasia/aplasia, Hypodontia, Cleft palate, Congenital diaphragmatic hernia,... ORPHA:2322
Superficial Epidermolytic Ichthyosis
Erythema, Thin skin ORPHA:455
Thakker-Donnai Syndrome
Narrow mouth, Congenital diaphragmatic hernia, Downturned corners of mouth, Hydronephrosis, Webbe... ORPHA:1780
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Gastric ulcer, Duodenal ulcer, Esophageal ulceration OMIM:618372
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
U-Shaped upper lip vermilion, Macroglossia, Malar flattening, Micropenis, Renal agenesis, Hypospa... OMIM:301040
Cardiofaciocutaneous Syndrome 1
High palate, Dental malocclusion, Open bite, Abnormality of the dentition, Micrognathia, Atopic d... OMIM:115150
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
High palate, Wide mouth, Delayed eruption of teeth, Mandibular prognathia, Few cafe-au-lait spots... OMIM:619503
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy, Nephritis OMIM:274240
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Cleft palate, Unilateral renal agenesis, Renal dysplasia, Polycystic kidney dysplasia, Renal insu... ORPHA:2237
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Oral mucosal blisters, Congenital localized absence of skin OMIM:132000
Chromosome 17Q12 Deletion Syndrome
High palate, Malar flattening, Retrognathia, Micrognathia, Unilateral renal agenesis, Recurrent u... OMIM:614527
Autosomal Recessive Robinow Syndrome
Wide mouth, Abnormality of the dentition, Short philtrum, Tented upper lip vermilion, Ankylogloss... ORPHA:1507
Fechtner syndrome
Proteinuria, Nephritis, Hematuria, Stage 5 chronic kidney disease OMIM:153640
Enamel-Renal Syndrome
Abnormal dental enamel morphology, Impaired renal concentrating ability, Gingival overgrowth, Hyp... ORPHA:1031
Gapo Syndrome
Nephrolithiasis, Everted lower lip vermilion, Skin tags, Micrognathia, Long philtrum, Delayed eru... ORPHA:2067
Lysinuric Protein Intolerance
Oroticaciduria, Pancreatitis, Aminoaciduria, Cutis laxa, Hyperextensible skin, Skeletal muscle at... OMIM:222700
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, High, narrow palate, Macroglossia, Malar flattening, Aminoaciduria, Micrognathia, Hy... OMIM:214100
Cat Eye Syndrome
Cleft palate, Renal agenesis, Micrognathia, Preauricular pit, Preauricular skin tag, Horseshoe ki... OMIM:115470
Vascular Ehlers-Danlos Syndrome
Excessive wrinkled skin, Abnormality of the dentition, Aplasia/Hypoplasia of the abdominal wall m... ORPHA:286
Thanatophoric Dysplasia Type 1
Excessive wrinkled skin, Abnormality of the kidney, Patent ductus arteriosus, Redundant skin ORPHA:1860
Micro Syndrome
High palate, Hypoplasia of penis, Micrognathia, Short philtrum, Abnormal localization of kidney, ... ORPHA:2510
Aplasia Cutis Congenita
Skin ulcer, Facial palsy, Aplasia cutis congenita over the scalp vertex, Congenital localized abs... ORPHA:1114
Flynn-Aird Syndrome