Gene Summary


IMPC Data Collections

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.

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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.


XRay Images Skull Dorso Ventral Orientation

16 Images


XRay Images Skull Lateral Orientation

14 Images


XRay Images Whole Body Lateral Orientation

14 Images


XRay Images Forepaw

14 Images

Anti-nuclear antibody assay


6 Images


XRay Images Whole Body Dorso Ventral

15 Images

DSS Histology


6 Images

Ear epidermis immunophenotyping


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
Matching phenotypes Source
Corneal Dystrophy, Congenital Stromal

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

Disease Similarity of
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 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
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
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent viral infections, Recurrent protozoan infections, Recurrent bacterial infections OMIM:308220
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... ORPHA:888
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Periodontal Ehlers-Danlos Syndrome
Hypermelanotic macule, Hyperextensible skin, Periodontitis, Atrophy of alveolar ridges, Gingival ... ORPHA:75392
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Elastosis Perforans Serpiginosa
Annular cutaneous lesion, Erythematous papule, Skin-colored papule, Skin plaque, Cutis laxa, Serp... ORPHA:79148
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Invasive Mole
Menometrorrhagia ORPHA:99925
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Granulomatous Slack Skin
Acute kidney injury, Redundant skin, Cutis laxa, Nephrocalcinosis, Erythema ORPHA:33111
Fetal Encasement Syndrome
Increased urinary 8-oxo-7,8-dihydroguanosine level, Thin skin, Congenital diaphragmatic hernia, H... OMIM:613630
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterial infections, Recu... OMIM:611521
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
2p15-16.1 microdeletion syndrome
Camptodactyly of finger, Hydronephrosis DECIPHER:70
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula, Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Immunodeficiency 31B
Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Ring Chromosome 8 Syndrome
Abnormal palate morphology, Hydronephrosis, Abnormality of the ureter ORPHA:1450
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... OMIM:174000
Premature skin wrinkling, Papule, Eczematoid dermatitis, Cutis laxa, Erysipelas, Skin nodule ORPHA:228240
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Hypodontia, Thin skin, Dry skin OMIM:125640
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Ehlers-Danlos Syndrome, Classic Type, 2
Subcutaneous spheroids, Hyperextensible skin, Molluscoid pseudotumors, Atrophic scars, Cigarette-... OMIM:130010
Nephronophthisis 1
Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, Tubulointers... OMIM:256100
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of the dentition, Eczematoid dermatitis, Abnormal dental morphology, Premature loss o... ORPHA:1810
6P22 Microdeletion Syndrome
Abnormal palate morphology, Redundant skin, Hydronephrosis, Patent ductus arteriosus ORPHA:251046
Alport Syndrome
Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, Glomerular C3 depositi... ORPHA:63
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Hyperextensible skin, Webbed neck, Delayed eruption of teeth, High palate, Cigarette-paper scars,... OMIM:612350
Congenital Primary Megaureter
Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis... ORPHA:617
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Abnormal gastric mucosa morphology, Colonic diverticula,... ORPHA:263665
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Nephronophthisis 4
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 chronic k... OMIM:606966
Absence Of Fingerprints-Congenital Milia Syndrome
Camptodactyly of finger, Skin rash, Milia, Thin skin ORPHA:1658
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A... ORPHA:2838
Mandibular prognathia, Dry skin, Microdontia, Tooth agenesis, Thin skin, Melanocytic nevus ORPHA:1660
X-Linked Intellectual Disability, Schimke Type
Ankle flexion contracture, Elbow flexion contracture, High palate, Vesicoureteral reflux, Hip con... ORPHA:85285
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Cutis laxa, Redundant skin, Increased number of skin folds, Papule ORPHA:436274
Skin ulcer, Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Thin skin, Micrognathia ORPHA:2500
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hyperextensible skin, Abnormality of primary teeth, Atrophic scars, Narrow mouth, Gingivitis, Cut... ORPHA:75496
Congenital Disorder Of Glycosylation, Type Iir
Cutis laxa, Micrognathia, Hypospadias OMIM:301045
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria OMIM:618913
Immunodeficiency, Common Variable, 6
Enlarged kidney, Purpura, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hydro... OMIM:613496
Macdermot-Winter Syndrome
Camptodactyly of finger, Hydronephrosis OMIM:247990
Hereditary Amyloidosis With Primary Renal Involvement
Renal interstitial amyloid deposits, Purpura, Decreased glomerular filtration rate, Tubulointerst... ORPHA:85450
Prolidase Deficiency
Skin ulcer, Aplasia/Hypoplasia of the skin, Recurrent cystitis, Dry skin, Papule, Carious teeth, ... ORPHA:742
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis, Flexion contracture, Arthrogryposis multiplex congenita, Skeletal mu... OMIM:232500
Hereditary Acrokeratotic Poikiloderma
Papule, Pustule, Abnormality of the urethra, Abnormality of the dentition, Premature loss of prim... ORPHA:2907
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Renal Hypodysplasia/Aplasia 2
Bilateral renal agenesis, Redundant skin OMIM:615721
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophic gastriti... ORPHA:2494
Dent Disease
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... ORPHA:1652
Congenital Myopathy 19
Facial hypotonia, High palate, Congenital contracture, Micrognathia, Hydronephrosis, Skeletal mus... OMIM:618578
Immunodeficiency 116
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections OMIM:608957
Weaver Syndrome
Retrognathia, Hypoplasia of penis, Redundant skin, Camptodactyly of finger, Micrognathia, Long ph... ORPHA:3447
Hypohidrotic Ectodermal Dysplasia
Inflammatory abnormality of the eye, Abnormality of the dentition, Dry skin, Tooth agenesis, Neph... ORPHA:238468
Brooke-Spiegler Syndrome
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo... ORPHA:79493
Congenital Heart Defects And Ectodermal Dysplasia
Widely spaced teeth, Dry skin, Microdontia, Premature loss of primary teeth, Thin skin OMIM:617364
Epidermolysis Bullosa Simplex With Pyloric Atresia
Muscular dystrophy, Glomerular sclerosis, Milia, Scarring alopecia of scalp, Atrophic scars, Apla... ORPHA:158684
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology ORPHA:2978
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Spontaneous esophageal perforation, Abnormality of the gastro... ORPHA:1876
Senior-Loken Syndrome 1
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Impaired renal concentrating ability, St... OMIM:266900
Complement Component C1R/C1S Deficiency
Arthritis, Discoid lupus rash, Nephritis OMIM:216950
Arthrochalasia Ehlers-Danlos Syndrome
Retrognathia, Micrognathia, Hyperextensible skin, Thin skin ORPHA:1899
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormal dental enamel morphology, Ope... ORPHA:2092
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Hyperextensible skin, Petechiae, Thin skin, Atypical scarring of skin, Striae distensae OMIM:225310
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thin skin, Thenar muscle atrophy, Hyperextensible skin, Flexion contracture ORPHA:157965
Familial Partial Lipodystrophy, Dunnigan Type
Glomerulopathy, Advanced eruption of teeth, Pancreatitis, Abnormality of skeletal muscle fiber si... ORPHA:2348
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Small, conical teeth, Oligodontia, Abnormality of the dentition, Aplasia cutis congenita ORPHA:79499
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Preauricular skin tag, Preauricular pit, Hydronephrosis, Abnormal local... ORPHA:195
Rapp-Hodgkin Syndrome
Recurrent otitis media, Hypospadias, Conical tooth, Narrow mouth, Dry skin, Microdontia, Hypoplas... OMIM:129400
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:1962
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Thin vermilion border, Hypospadias, Dental crowding, High palate... OMIM:617602
Variant Abeta2M Amyloidosis
Gastrointestinal infarctions, Abnormal salivary gland morphology, Intestinal perforation ORPHA:314652
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Cutis laxa, Redundant skin, Papule ORPHA:91135
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abnormal intestine morphology, Esophagitis, Du... OMIM:619079
Focal Facial Dermal Dysplasia Type Iii
Hypopigmented skin patches, Short philtrum, Redundant skin, Aplasia/Hypoplasia of the skin, Multi... ORPHA:1807
19Q13.11 Microdeletion Syndrome
Thin vermilion border, Retrognathia, Solitary median maxillary central incisor, Hypospadias, Dry ... ORPHA:217346
X-Linked Ehlers-Danlos Syndrome
Thin skin, Hyperextensible skin ORPHA:75497
Gapo Syndrome
High, narrow palate, Thick lower lip vermilion, Tubulointerstitial fibrosis, Eruption failure, Re... OMIM:230740
Iga Nephropathy, Susceptibility To, 2
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease OMIM:613944
Cranioectodermal Dysplasia 4
Thin vermilion border, Cutis laxa, Recurrent pneumonia, Smooth philtrum, Stage 5 chronic kidney d... OMIM:614378
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Milia, Thin skin, Dermal atrophy, Erythematous plaque, Crusting erythematous dermatitis, Erythema ORPHA:158673
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Micrognathia, Cleft palate, Redundant skin ORPHA:1779
8P23.1 Duplication Syndrome
Long philtrum, Hydronephrosis, Thick vermilion border ORPHA:251076
Iga Nephropathy, Susceptibility To, 1
Purpura, Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kid... OMIM:161950
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Oral ulcer, Skin rash, Abnormal glomerular mesangi... ORPHA:567544
Distal Duplication 6P
Thin vermilion border, Sacral dimple, Narrow mouth, Dry skin, Renal hypoplasia, Micrognathia, Hyd... ORPHA:1745
Ehlers-Danlos Syndrome, Periodontal Type, 2
Gingival fragility, Hyperextensible skin, Periodontitis, Gingival recession, Gingival bleeding, N... OMIM:617174
Ehlers-Danlos Syndrome, Periodontal Type, 1
Gingival fragility, Alveolar bone loss around teeth, Hyperextensible skin, Periodontitis, Prematu... OMIM:130080
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cyst, Hyperechog... OMIM:263200
C3 Glomerulopathy 3
Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo... OMIM:614809
Macs Syndrome
Hyperextensible skin, Recurrent aphthous stomatitis, Gingival overgrowth, Redundant skin, High pa... OMIM:613075
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Thin vermilion border, Short philtrum, Thin skin, Micrognathia, Skin dimple ORPHA:261304
Scarf Syndrome
Webbed neck, Diastasis recti, Cutis laxa, Enamel hypoplasia, Long philtrum, Perineal hypospadias,... ORPHA:3134
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Thin skin, Atrophic scars, Soft skin, Hyperextensible skin OMIM:225320
Familial Cervical Artery Dissection
Thin skin, Facial palsy, Striae distensae ORPHA:36382
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Distal lower limb amyotrophy, Distal lower limb muscle weakness, Hyperextensible skin, Distal upp... OMIM:619764
Trichorhinophalangeal Syndrome Type 2
Abnormal palate morphology, Supernumerary tooth, Recurrent urinary tract infections, Redundant sk... ORPHA:502
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Congenital absence of skin of limbs, Aplasia cutis congenita OMIM:600360
Orofaciodigital Syndrome Xv
Midline notch of upper alveolar ridge, Hydronephrosis, Lobulated tongue OMIM:617127
Pituitary Adenoma 4, Acth-Secreting
Purpura, Facial erythema, Nephrolithiasis, Thin skin, Ecchymosis, Skeletal muscle atrophy, Striae... OMIM:219090
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Widely spaced teeth, Thick lower lip vermilion, Delayed eruption of teeth, Hydronephrosis, Patent... OMIM:619797
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Retrognathia, Hypoplasia of penis, Abnormal dental enamel morphology, Dry skin, Microdontia, Thin... ORPHA:1812
Recombinant Chromosome 8 Syndrome
Thick lower lip vermilion, Gingival overgrowth, Abnormality of the dentition, Camptodactyly, Down... OMIM:179613
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Nephritis, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency OMIM:161900
Renal hypoplasia/aplasia, Short philtrum, Preauricular skin tag, Micrognathia, Cleft palate, Hydr... ORPHA:3305
Silver-Russell Syndrome 2
Downturned corners of mouth, Micrognathia, Thin skin OMIM:618905
Musculocontractural Ehlers-Danlos Syndrome
Hyperextensible skin, Redundant skin, Atrophic scars, High palate, Nephrolithiasis, Narrow mouth,... ORPHA:2953
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff... ORPHA:84085
Rafiq Syndrome
Short philtrum, Cutis laxa, Malar flattening, Smooth philtrum, Flexion contracture, Thin upper li... OMIM:614202
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Melena, Gastric adenocarcinoma OMIM:619182
Juvenile Hyaline Fibromatosis
Skin ulcer, Gingival fibromatosis, Gingival overgrowth, Aplasia/Hypoplasia of the skin, Papule, S... ORPHA:2028
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Enlarged kidney, Pancreatitis, Periodontitis, Tubulointerstitial fibrosis, Oral ulce... ORPHA:79259
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Thin skin, Purpura, Skin ulcer, Aplasia/Hypoplasia of the skin ORPHA:743
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Posterior Urethral Valve
Retrognathia, Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infection... ORPHA:93110
Trichothiodystrophy 8, Nonphotosensitive
Retrognathia, Eczematoid dermatitis, Cutis laxa, Long philtrum, Thin upper lip vermilion OMIM:619691
Amyloidosis, Finnish Type
Nephrotic syndrome, Cutis laxa, Urolithiasis, Renal glomerular amyloid deposition, Stage 5 chroni... OMIM:105120
Ulerythema Ophryogenesis
Facial erythema, Contact dermatitis, Erythematous papule, Dry skin, Acne, Hyperkeratotic papule, ... ORPHA:3406
Urofacial Syndrome 2
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro... OMIM:615112
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Retrognathia, Vesicoureteral reflux, Micrognathia, Hydronephrosis, Cleft palate, Arthrogryposis m... OMIM:618265
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hematuria, Oral mucosal blisters, Aplasia of the bladder, Ureterocele, Enamel hypoplasia, Hydrone... ORPHA:79403
Porokeratosis Of Mibelli
Aplasia/Hypoplasia of the skin, Pruritus ORPHA:735
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Spondyloenchondrodysplasia With Immune Dysregulation
Purpura, Recurrent otitis media, Hypermelanotic macule, Tubulointerstitial fibrosis, Rheumatoid a... OMIM:607944
Recon Progeroid Syndrome
Scaling skin, Thin vermilion border, Dental crowding, Dry skin, Thin skin, Skeletal muscle atroph... OMIM:620370
Agel Amyloidosis
Keratoconjunctivitis sicca, Diffuse skin atrophy, Facial palsy, Dry skin, Cutis laxa, Proteinuria... ORPHA:85448
Bor Syndrome
Retrognathia, Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Facial palsy,... ORPHA:107
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Thin skin, Purpura, Aplasia/Hypoplasia of the skin ORPHA:745
Zaki Syndrome
Congenital diaphragmatic hernia, Sacral dimple, Hyperextensible skin, Patent ductus arteriosus, S... OMIM:619648
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Hydro... OMIM:191800
Cranioectodermal Dysplasia 3
Nephronophthisis, Widely spaced teeth, Everted lower lip vermilion, Dry skin, Cutis laxa, Hypopla... OMIM:614099
Cutis Laxa, Autosomal Recessive, Type Iiia
Hyperextensible skin, Distal amyotrophy, Narrow mouth, Cutis laxa, Thin skin OMIM:219150
Premature Ovarian Failure 5
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Weyers Ulnar Ray/Oligodactyly Syndrome
Solitary median maxillary central incisor, High palate, Cleft upper lip, Micrognathia, Hydronephr... OMIM:602418
Bardet-Biedl Syndrome 19
Renal hypoplasia, Hydronephrosis, Renal insufficiency, Patent ductus arteriosus OMIM:615996
Bohring-Opitz Syndrome
Narrow palate, Retrognathia, Sacral dimple, Nevus flammeus, Bilateral cleft palate, Broad alveola... OMIM:605039
Suleiman-El-Hattab Syndrome
Thick lower lip vermilion, Webbed neck, High palate, Preauricular skin tag, Downturned corners of... OMIM:618950
Lethal Congenital Contracture Syndrome 2
Micrognathia, Hydronephrosis, Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:607598
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Tubulointer... OMIM:602522
Arima Syndrome
Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, ... OMIM:243910
Axenfeld-Rieger Syndrome
Hypospadias, Redundant skin, Everted lower lip vermilion, Microdontia, Hypoplasia of the maxilla,... ORPHA:782
Image Syndrome
Hydronephrosis, Hypospadias ORPHA:85173
Classical-Like Ehlers-Danlos Syndrome Type 1
Thin skin, Hyperextensible skin, Skeletal muscle atrophy ORPHA:230839
Self-Improving Dystrophic Epidermolysis Bullosa
Milia, Atrophic scars, Carious teeth, Skin erosion, Aplasia cutis congenita, Oral mucosal blisters ORPHA:79411
Cardiac-Valvular Ehlers-Danlos Syndrome
Hyperextensible skin, Dental crowding, Atrophic scars, Tendon thickening, High palate, Tendon rup... ORPHA:230851
Urofacial Syndrome 1
Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ... OMIM:236730
Trisomy 17P
Orofacial cleft, Patent ductus arteriosus, Hypoplasia of penis, Polycystic kidney dysplasia, High... ORPHA:261290
Branchio-Oculo-Facial Syndrome
Supraauricular pit, Orofacial cleft, Non-midline cleft of the upper lip, High palate, Everted low... ORPHA:1297
Short philtrum, Multiple cafe-au-lait spots, Eclabion, Cutis laxa, Thick vermilion border, Malar ... ORPHA:397941
Hereditary Xanthinuria
Acute kidney injury, Hematuria, Xanthinuria, Recurrent urinary tract infections, Decreased urinar... ORPHA:3467
Arterial Tortuosity Syndrome
Congenital diaphragmatic hernia, Hyperextensible skin, High palate, Cutis laxa, Thin skin, Microg... OMIM:208050
Myopathic Ehlers-Danlos Syndrome
High, narrow palate, Ankle flexion contracture, Hyperextensible skin, Multiple joint contractures... ORPHA:536516
Cutis Laxa, Autosomal Recessive, Type Iiib
Thin vermilion border, Excessive wrinkled skin, Elbow flexion contracture, Cutis laxa, Thin skin,... OMIM:614438
Williams-Beuren Region Duplication Syndrome
Chronic otitis media, Unilateral renal agenesis, Short philtrum, High palate, Micrognathia, Hydro... OMIM:609757
Progeroid Syndrome, Petty Type
Mandibular prognathia, Redundant skin, Everted lower lip vermilion, Tooth agenesis, Cutis laxa, S... ORPHA:2963
Glass Syndrome
Conical tooth, Facial hypotonia, Dental crowding, Oligodontia, Gingival overgrowth, High palate, ... OMIM:612313
Aldh18A1-Related De Barsy Syndrome
Hyperextensible skin ORPHA:35664
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Cutis Laxa, Autosomal Recessive, Type Iie
Long philtrum, Cutis laxa, Thick lower lip vermilion, High palate OMIM:619451
Atrophoderma Vermiculata
Periauricular skin pits, Erythema, Atrophic scars, Hypoplastic pilosebaceous units, Skin pit, Hyp... ORPHA:79100
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Conical tooth, Periorbital wrinkles, Everted lower lip vermilion, Mi... OMIM:305100
Scarf Syndrome
Webbed neck, Diastasis recti, Cutis laxa, Enamel hypoplasia, Long philtrum, Perineal hypospadias,... OMIM:312830
Adult Syndrome
Orofacial cleft, Oligodontia, Dry skin, Microdontia, Eczematoid dermatitis, Thin skin, Conjunctiv... OMIM:103285
Ehlers-Danlos Syndrome, Classic-Like, 1
Muscle fiber splitting, Hyperextensible skin, Unilateral renal agenesis, Atrophic scars, Vesicour... OMIM:606408
X-Linked Intellectual Disability Due To Gria3 Mutations
Narrow palate, Short philtrum, Facial hypotonia, Mandibular prognathia, Short upper lip, Hydronep... ORPHA:364028
Mitochondrial Complex I Deficiency, Nuclear Type 30
Redundant skin OMIM:301021
Tetrasomy 15Q26
High palate, Camptodactyly, Hydronephrosis, Microretrognathia, Patent ductus arteriosus, Horsesho... OMIM:614846
Cutis Laxa, Autosomal Dominant 3
Cutis laxa, Dermal translucency, Premature skin wrinkling, Unilateral renal agenesis OMIM:616603
Geroderma Osteodysplastica
Hyperextensible skin, Mandibular prognathia, Redundant skin, Thin skin, Malar flattening ORPHA:2078
Neuralgic Amyotrophy
Redundant neck skin, Narrow mouth, Upper limb muscle weakness, Scapular winging, Bifid uvula, Cle... ORPHA:2901
C Syndrome
Renal cortical cysts, Thick anterior alveolar ridges, High palate, Cutis laxa, Micrognathia, Wide... OMIM:211750
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Cutis laxa, Ureteral duplication, Cleft palate, Renal duplication OMIM:270420
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Excessive wrinkled skin, In... OMIM:225400
Ablepharon Macrostomia Syndrome
Thin vermilion border, Excessive wrinkled skin, Hypoplasia of penis, Redundant skin, Dry skin, Mi... ORPHA:920
Mandibuloacral Dysplasia
Abnormal tongue morphology, Dental crowding, High palate, Hypoplasia of teeth, Micrognathia, Thin... ORPHA:2457
Lenz-Majewski Hyperostotic Dwarfism
Hypospadias, Knee flexion contracture, Mandibular prognathia, Elbow flexion contracture, Abnormal... OMIM:151050
Xanthinuria, Type I
Xanthinuria, Hydronephrosis, Xanthine nephrolithiasis, Pyelonephritis, Myopathy OMIM:278300
Immunodeficiency 49
Short philtrum, Cutis laxa, Micrognathia, Natal tooth, Psoriasiform dermatitis OMIM:617237
Macrocephaly/Autism Syndrome
Recurrent otitis media, High palate, Cutis laxa, Long philtrum, Penile freckling OMIM:605309
Cutis Laxa, Autosomal Recessive, Type Iia
Excessive wrinkled skin, Redundant skin, Narrow mouth, High palate, Cutis laxa, Carious teeth, Ma... OMIM:219200
Short Syndrome
Premature skin wrinkling, Delayed eruption of teeth, Thin skin, Downturned corners of mouth, Micr... OMIM:269880
Joubert Syndrome 35
Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis OMIM:618161
Stiff Skin Syndrome
Subcutaneous nodule, Lack of skin elasticity, Nephrolithiasis, Aplasia/Hypoplasia of the skin ORPHA:2833
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Ureteral duplication, Nephronophthisis, Widely spaced teeth, Cholangitis, Ac... OMIM:266920
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Calf muscle... ORPHA:79083
Ochoa Syndrome
Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re... ORPHA:2704
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Eclabion, Dry skin, Scaling skin, Cutis laxa ORPHA:2269
Toluene Embryopathy
Thin vermilion border, Micrognathia, Hydronephrosis, Smooth philtrum, Abnormal localization of ki... ORPHA:1920
Esophageal Ring, Lower
Dysphagia, Hiatus hernia OMIM:133240
Congenital Myopathy 17
Mandibular prognathia, High palate, Renal hypoplasia, Hydronephrosis, Cleft palate, Ureteropelvic... OMIM:618975
Even-Plus Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, High palate, Atopic dermatitis, Renal ... OMIM:616854
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Vesicoureteral reflux, Lymphadenitis, Eczematoid dermatitis, Inflammation of the large intestine,... OMIM:615895
Vesicoureteral Reflux 3
Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j... OMIM:613674
Kury-Isidor Syndrome
Widely spaced teeth, Recurrent otitis media, Sacral dimple, Triangular mouth, High palate, Hydron... OMIM:619762
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Limb muscle weakness, Osteomyelitis leading to amputation due to slow healing fractures, Limb-gir... OMIM:112250
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Small thenar eminence, Renal cyst OMIM:613390
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Hydroureter, Duplicated collecting system, Thin skin, Oligodontia, Vesic... OMIM:129900
Trisomy 13
High, narrow palate, Patent ductus arteriosus, Abnormality of the dentition, Abnormality of the u... ORPHA:3378
Frontometaphyseal Dysplasia 1
Ankle flexion contracture, Hydroureter, Knee flexion contracture, Delayed eruption of teeth, Abse... OMIM:305620
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Renal neoplasm, Hyperextensible skin, Multiple joint contractures, Torticollis, Atrophic scars, H... ORPHA:536467
Dermatosparaxis Ehlers-Danlos Syndrome
Retrognathia, Hyperextensible skin, Excessive wrinkled skin, Esophagitis, Thin skin, Micrognathia ORPHA:1901
De Barsy Syndrome
Excessive wrinkled skin, Delayed eruption of teeth, Narrow mouth, High palate, Cutis laxa, Thin s... ORPHA:2962
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Thin skin OMIM:259410
Serrated Polyposis Syndrome
Ovarian neoplasm, Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Biliary ... ORPHA:157798
Cutis Laxa, Autosomal Dominant 2
Cutis laxa, Premature skin wrinkling OMIM:614434
Netherton Syndrome
Ectopic kidney, Skin rash, Dry skin, Eczematoid dermatitis, Hydronephrosis, Erythroderma, Aminoac... ORPHA:634
Acrofacial Dysostosis Syndrome Of Rodriguez
Short philtrum, Narrow mouth, High palate, Thin skin, Micrognathia OMIM:201170
Desmoid Tumor
Subcutaneous nodule, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Reynolds Syndrome
Abnormal gastric mucosa morphology, Dysphagia, Xerostomia, Gastroesophageal reflux ORPHA:779
Microphthalmia, Lenz Type
Orofacial cleft, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Webbed neck, Delayed eruptio... ORPHA:568
Pseudoprogeria Syndrome
Thin skin ORPHA:2985
Premature Aging Syndrome, Penttinen Type
Thin vermilion border, Retrognathia, Delayed eruption of teeth, Narrow philtrum, Hypoplasia of th... OMIM:601812
Cutis Laxa, Autosomal Recessive, Type Ic
Retrognathia, Posterolateral diaphragmatic hernia, Multiple bladder diverticula, Morgagni diaphra... OMIM:613177
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Retrognathia, Redundant neck skin, Exaggerated cupid's bow, Diastasis recti, Wrist flexion contra... ORPHA:254528
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased size of the mandible, Hydronephrosis, Smooth philtrum, Patent ductus arteriosus OMIM:300048
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Dermal translucency, Hyperextensible skin, Long upper lip, Atrophic scars, Cutis laxa, Cleft pala... OMIM:615349
Progressive Hemifacial Atrophy
Micrognathia, Abnormal mandible morphology, Aplasia/Hypoplasia of the skin ORPHA:1214
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Recurrent mandibular subluxations, Hyperextensible skin, Gingival hyperkeratosis, Gingival overgr... OMIM:225410
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development
Hiatus hernia OMIM:272000
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Hyperextensible skin, Atrophic scars, Premature osteoarthritis, Contracture of the proximal inter... OMIM:130060
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Redundant neck skin, Excessive wrinkled skin, Redundant skin, High palate, Cutis laxa, Carious te... ORPHA:357074
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Redundant neck skin, Renal cyst, Renal hypoplasia, Ureteral agenesis, Microretrognathia, Renal dy... OMIM:236500
Oculocerebral Hypopigmentation Syndrome, Cross Type
Abnormal palate morphology, Narrow mouth, Microdontia, Ureteral stenosis, Thin skin, Abnormality ... ORPHA:2719
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Gingival overgrowth, Renal cyst, Abnor... ORPHA:1834
Carey-Fineman-Ziter Syndrome
Thin vermilion border, Aplasia of the pectoralis major muscle, Glandular hypospadias, Glossoptosi... ORPHA:1358
Xeroderma Pigmentosum
Hypopigmented skin patches, Hypermelanotic macule, Craniofacial hyperostosis, Dry skin, Abnormali... ORPHA:910
Thyrocerebrorenal Syndrome
Abnormality of the musculature of the limbs, Nephritis, Renal insufficiency ORPHA:3327
Distal Triplication 15Q
Abnormality of the kidney, Retrognathia, Polycystic kidney dysplasia, High palate, Camptodactyly,... ORPHA:314588
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Cutis laxa, Congenital diaphragmatic hernia OMIM:614100
Rahman Syndrome
Redundant skin, Nevus, Camptodactyly OMIM:617537
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Striae distensae, Thin skin OMIM:610489
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Abnormality of the dentition, Thin skin, Flexion contracture, Lack of skin elasticit... ORPHA:90153
Diabetic Embryopathy
Renal hypoplasia/aplasia, Ureteral duplication, Micrognathia, Cleft palate, Hydronephrosis, Aplas... ORPHA:1926
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Redundant skin, Flexion contracture ORPHA:171719
Periventricular Nodular Heterotopia
Thin skin, Patent ductus arteriosus ORPHA:98892
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Type 1 muscle fiber predominance, Hyperextensible skin, Cleft soft palate, Atrophic scars, Cutis ... OMIM:614557
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Open bite, High palate, Abnormal dental morphology, Hydronephrosis, Dental... ORPHA:3079
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Nephropathy, Renal tubular atrophy, Nephritis, Gout, Renal ... OMIM:162000
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Recurrent otitis media, Unilateral renal agenesis, Renal hypoplasia, Cleft p... OMIM:618494
Ogden Syndrome
High, narrow palate, Everted upper lip vermilion, Torticollis, Cutis laxa, Microretrognathia, Cap... ORPHA:276432
Exostoses With Anetodermia And Brachydactyly, Type E
Dermal atrophy OMIM:133690
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Webbed neck, Micrognathia, Cleft palate, Hydronephrosis, Unilateral cleft lip, Flexi... OMIM:616897
Lamellar Ichthyosis
Chronic otitis media, Dry skin, Abnormality of the dentition, Everted lower lip vermilion, Lack o... ORPHA:313
X-Linked Dominant Chondrodysplasia Punctata
Scaling skin, Scarring alopecia of scalp, High palate, Hydronephrosis, Flexion contracture, Eryth... ORPHA:35173
Fibrinolytic Defect
Hyperextensible skin OMIM:134900
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hyperextensible skin OMIM:615937
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Advanced eruption of teeth, Pancreatitis, Skeletal muscle hypertrophy, Aplasia/Hypoplasia of the ... ORPHA:280365
Koolen-De Vries Syndrome
Narrow palate, High, narrow palate, Ureteral duplication, Hypospadias, Abnormal dental enamel mor... ORPHA:96169
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
8P Inverted Duplication/Deletion Syndrome
Retrognathia, High, narrow palate, Everted lower lip vermilion, Preauricular skin tag, Micrognath... ORPHA:96092
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Intermediate Generalized Junctional Epidermolysis Bullosa
Milia, Scarring alopecia of scalp, Atrophic scars, Enamel hypoplasia, Aplasia cutis congenita, Or... ORPHA:79402
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Camptodactyly of finger, Micrognathia, Hydronephrosis, Hypoplasia of penis ORPHA:2083
Prune Belly Syndrome
Aplasia of the abdominal wall musculature, Hydroureter, Hydronephrosis, Congenital posterior uret... OMIM:100100
Takenouchi-Kosaki Syndrome
Widely spaced teeth, Unilateral renal agenesis, Hypospadias, Short philtrum, Webbed neck, Nevus, ... OMIM:616737
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... OMIM:614817
Geroderma Osteodysplasticum
Premature skin wrinkling, Periodontitis, Mandibular prognathia, Abnormality of the dentition, Cam... OMIM:231070
Stuve-Wiedemann Syndrome 1
Thin vermilion border, Contracture of the proximal interphalangeal joint of the 5th finger, Flexi... OMIM:601559
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Narrow mouth, Renal hypoplasia, Hydronephrosis, Thin upper lip vermilion OMIM:613735
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal salivary gland morphology, Abnormal pancreas morphology, Siala... ORPHA:449432
Localized Junctional Epidermolysis Bullosa
Milia, Scarring alopecia of scalp, Abnormality of dental color, Atypical scarring of skin, Enamel... ORPHA:251393
Marshall-Smith Syndrome
Retrognathia, Gingival overgrowth, Protruding tongue, Thin skin, Open mouth ORPHA:561
Pseudoxanthoma Elasticum
Cutis laxa, Renovascular hypertension, White oral mucosal macule, Yellow papule OMIM:264800
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Retrognathia, Periodontitis, Premature loss of teeth, Hydronephrosis, Dentinogenesis imperfecta, ... OMIM:619269
Dystrophic Epidermolysis Bullosa Pruriginosa
Milia, Atrophic scars, Papule, Dermal atrophy, Subcutaneous nodule, Skin plaque, Pruritus ORPHA:89843
Congenital Disorder Of Glycosylation, Type Iq
Cutis laxa, Dry skin, Eczematoid dermatitis OMIM:612379
Cutis Laxa, Autosomal Recessive, Type Ia
Congenital diaphragmatic hernia, Hyperextensible skin, Redundant skin, Cutis laxa, Bladder divert... OMIM:219100
Mesomelia-Synostoses Syndrome
High, narrow palate, Aplasia/Hypoplasia of the uvula, Narrow mouth, Abnormal oral frenulum morpho... ORPHA:2496
Loeys-Dietz Syndrome 4
Retrognathia, High, narrow palate, Hyperextensible skin, Torticollis, Striae distensae, High pala... OMIM:614816
Blepharonasofacial Malformation Syndrome
Non-midline cleft of the upper lip, Redundant skin, Tooth agenesis, Cleft palate, Long philtrum ORPHA:1252
Cardiofaciocutaneous Syndrome
Multiple lentigines, Excessive wrinkled skin, Hyperextensible skin, Webbed neck, Redundant skin, ... ORPHA:1340
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Mandibular prognathia, High palate, Everted lower lip vermilion, Protruding tongue, Cafe-au-lait ... OMIM:617804
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Torticollis, Keloids, Nephritis, Melanocytic nevus, Renal dysplasia, Py... OMIM:314300
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Hyperextensible skin, Multiple joint contractures, Nu... ORPHA:536471
Cardiac Valvular Dysplasia, X-Linked
Cutis laxa, Thick vermilion border OMIM:314400
Helsmoortel-Van Der Aa Syndrome
Thin vermilion border, Enlarged kidney, Widely spaced teeth, Thick lower lip vermilion, Advanced ... OMIM:615873
Autosomal Recessive Cutis Laxa Type 1
Multiple bladder diverticula, Recurrent urinary tract infections, Redundant skin, Vesicoureteral ... ORPHA:90349
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Retrognathia, Ectopic kidney, Delayed eruption of teeth, Conical incisor, Oligodon... OMIM:235510
Rin2 Syndrome
Hyperextensible skin, Gingival overgrowth, Redundant skin, High palate, Irregular dentition, Long... ORPHA:217335
Recombinant 8 Syndrome
Chronic otitis media, Abnormality of the kidney, Gingival overgrowth, Redundant skin, Abnormality... ORPHA:96167
22Q11.2 Duplication Syndrome
Micrognathia, Hydronephrosis, Displacement of the urethral meatus, Cleft palate, Smooth philtrum,... ORPHA:1727
Costello Syndrome
Narrow palate, Thick lower lip vermilion, Abnormal dental enamel morphology, Redundant skin, Abno... ORPHA:3071
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Retrognathia, Redundant neck skin, Hypospadias, Duplicated collecting system, Vesicoureteral refl... OMIM:301056
Meier-Gorlin Syndrome 1
High palate, Narrow mouth, Microdontia, Camptodactyly, Hypoplasia of the maxilla, Thin skin, Micr... OMIM:224690
Benign Schwannoma
Abnormal parotid gland morphology, Intestinal polyposis, Abnormal esophagus morphology ORPHA:252164
Carpenter Syndrome 1
Sacral dimple, Hydroureter, High palate, Camptodactyly, Persistence of primary teeth, Hypoplasia ... OMIM:201000
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Oral mucosal blisters, Congenital pyloric atresia OMIM:619817
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Cutis laxa, Yellow papule OMIM:610842
Ehlers-Danlos Syndrome, Classic-Like, 2
Hyperextensible skin, Webbed neck, Redundant skin, Atrophic scars, High palate, Micrognathia, Ost... OMIM:618000
Focal Facial Dermal Dysplasia Type I
Atrophic scars, Downturned corners of mouth, Thick upper lip vermilion, Skin dimple, Aplasia cuti... ORPHA:79133
Eec Syndrome
Orofacial cleft, Renal hypoplasia/aplasia, Hypospadias, Inflammatory abnormality of the eye, Abno... ORPHA:1896
Kleefstra Syndrome
Chronic otitis media, Advanced eruption of teeth, Hypospadias, Hypoplasia of penis, Delayed erupt... ORPHA:261494
Genitopatellar Syndrome
Delayed eruption of teeth, Micrognathia, Hydronephrosis, Hip contracture, Knee flexion contractur... ORPHA:85201
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis, Contracture of the proximal interphalangeal joint of the 5th finger OMIM:620141
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Renal tubular epithelial necrosis, Deep dermal perivascular inflammatory inf... ORPHA:49041
Emanuel Syndrome
Congenital diaphragmatic hernia, Redundant neck skin, Dental crowding, Bifid uvula, Long philtrum... ORPHA:96170
Restrictive Dermopathy 1
Scaling skin, Ureteral duplication, Hypospadias, Temporomandibular joint ankylosis, Narrow mouth,... OMIM:275210
Hyperkeratosis Lenticularis Perstans
Papule, Skin ulcer, Aplasia/Hypoplasia of the skin, Pruritus ORPHA:409
Ablepharon-Macrostomia Syndrome
Premature skin wrinkling, Aplastic zygomatic arch, Redundant skin, Dry skin, Short upper lip, Cam... OMIM:200110
Thanatophoric Dysplasia
Abnormality of the kidney, Redundant skin, Patent ductus arteriosus ORPHA:2655
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Widely spaced teeth, Triangular mouth, Webbed neck, High palate, Cafe-au-lait spot, Thin skin, Pr... OMIM:617506
Coffin-Lowry Syndrome
Narrow palate, Advanced eruption of teeth, Thick lower lip vermilion, Widely spaced teeth, Cranio... ORPHA:192
Kyphoscoliotic Ehlers-Danlos Syndrome
Hyperextensible skin, High palate, Thin skin, Micrognathia, Bladder diverticulum, Skeletal muscle... ORPHA:536545
Trisomy 1Q
Congenital diaphragmatic hernia, Congenital megaureter, Narrow mouth, Camptodactyly of finger, Hy... ORPHA:261344
Cutis laxa, Macroglossia, Premature skin wrinkling, Camptodactyly ORPHA:79325
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis, High palate, Cleft palate, Limb hypertonia ORPHA:488613
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, Hypospadias, Short philtrum, High palate, Everted lower lip vermilion, Furrowed ton... OMIM:616449
Kosaki Overgrowth Syndrome
Xanthelasma, Hyperextensible skin, Thin upper lip vermilion, Thin skin OMIM:616592
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Ureterocele, Skin plaque, Pyoderma, Abnormality of the bladder... ORPHA:79404
Acth-Independent Macronodular Adrenal Hyperplasia
Thin skin, Striae distensae, Skeletal muscle atrophy OMIM:219080
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Nephritis, Glomerular bas... OMIM:609057
Adult Syndrome
Skin ulcer, Dry skin, Abnormality of the dentition, Abnormal dental morphology, Thin skin, Melano... ORPHA:978
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Preauricular pit, Downturned corners of mouth, Hydronephrosis, Cleft palate, Microretrognathia, P... ORPHA:457193
15Q Overgrowth Syndrome
Retrognathia, High, narrow palate, Abnormal renal morphology, Dental crowding, Abnormality of the... ORPHA:314585
Melnick-Needles Syndrome
Craniofacial hyperostosis, Delayed eruption of teeth, Tooth malposition, Vesicoureteral reflux, M... ORPHA:2484
Congenital Disorder Of Glycosylation, Type Iig
Hemolytic-uremic syndrome, Hypospadias, Glossoptosis, High palate, Narrow mouth, Camptodactyly, M... OMIM:611209
Complement Factor I Deficiency
Recurrent otitis media, Recurrent urinary tract infections, Recurrent sinusitis, Septic arthritis... OMIM:610984
Ritscher-Schinzel Syndrome 1
Cleft palate, Hydronephrosis, Hypospadias, Micrognathia OMIM:220210
Pigmented Nodular Adrenocortical Disease, Primary, 2
Thin skin, Pancreatitis, Striae distensae OMIM:610475
Thanatophoric Dysplasia Type 2
Abnormality of the kidney, Redundant skin, Patent ductus arteriosus ORPHA:93274
Noonan Syndrome 4
Ureteral duplication, Webbed neck, Hydronephrosis, Wide mouth, Thick vermilion border, Dental mal... OMIM:610733
Barber-Say Syndrome
Thin vermilion border, Widely spaced teeth, Premature skin wrinkling, Delayed eruption of teeth, ... OMIM:209885
Cutis Laxa, Autosomal Recessive, Type Iib
Excessive wrinkled skin, Redundant skin, High palate, Decreased muscle mass, Malar flattening, La... OMIM:612940
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Milia, Urethrovesical occlusion, Atrophic scars, Enamel hypoplasia, Aplasia cutis congenita on tr... OMIM:226730
Czeizel-Losonci Syndrome
Congenital megaureter, High palate, Aplasia of the left hemidiaphragm, Micrognathia, Ureteral age... ORPHA:2437
Al-Gazali Syndrome
Recurrent pneumonia, Micrognathia, Hydronephrosis, Wrist flexion contracture OMIM:609465
Endove Syndrome, Limb-Brain Type
Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis, Osteomyelitis OMIM:619218
Joubert Syndrome 37
High palate, Hydronephrosis, Micropenis OMIM:619185
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Redundant neck skin, High palate, Micrognathia, Hydronephrosis, Cleft palate, Malar flattening, S... OMIM:235255
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Atrophic scars, Hyperextensible skin, Myopathy, Skeletal muscle atrophy ORPHA:300179
Systemic Lupus Erythematosus
Malar rash, Arthritis, Pericarditis, Nephritis, Lupus nephritis OMIM:152700
Chromosome 2P16.1-P15 Deletion Syndrome
Retrognathia, High, narrow palate, High palate, Everted lower lip vermilion, Camptodactyly, Hydro... OMIM:612513
Orofaciodigital Syndrome Type 1
Chronic otitis media, Broad alveolar ridges, Accessory oral frenulum, Tongue nodules, Lip pit, Mi... ORPHA:2750
Koolen-De Vries Syndrome
Narrow palate, Widely spaced teeth, Sacral dimple, Recurrent urinary tract infections, Vesicouret... OMIM:610443
Ogden Syndrome
Enlarged kidney, Everted upper lip vermilion, Redundant neck skin, Redundant skin, Cutis laxa, Lo... OMIM:300855
Marden-Walker Syndrome
Retrognathia, Renal hypoplasia/aplasia, Bifid uvula, Abnormality of the kidney, Hypospadias, Clef... ORPHA:2461
Craniofaciofrontodigital Syndrome
Premature skin wrinkling, Gingival overgrowth, Prominent median palatal raphe, Cutis laxa, Thick ... ORPHA:363705
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, Urinary bladder inflammatio... ORPHA:449395
Johanson-Blizzard Syndrome
Hypospadias, Hypoplasia of penis, Delayed eruption of teeth, Oligodontia, Abnormality of the dent... ORPHA:2315
Kindler Epidermolysis Bullosa
Cheilitis, Milia, Periodontitis, Abnormal dental enamel morphology, Phimosis, Aplasia/Hypoplasia ... ORPHA:2908
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Hyperextensible skin, Webbed neck, Elbow flexion contracture, Na... OMIM:245600
Cranioectodermal Dysplasia 2
Retrognathia, Widely spaced teeth, Patent ductus arteriosus, Cholangitis, High palate, Everted lo... OMIM:613610
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Abnormality of primary teeth, Dry skin, Tooth agenesis, Th... OMIM:150400
46,Xy Sex Reversal 4
Long philtrum, Recurrent otitis media, High palate, Micrognathia, Ureteropelvic junction obstruct... OMIM:154230
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Narrow mouth, Abnormality of the dentition, Thin skin, Micrognathia, Dermal atrophy ORPHA:90154
Ehlers-Danlos Syndrome, Hypermobility Type
Osteoarthritis, Soft skin, Hyperextensible skin, Striae distensae OMIM:130020
Pseudoxanthoma Elasticum
Hyperextensible skin, Excessive wrinkled skin, Skin rash, High palate, Nephrocalcinosis, Lack of ... ORPHA:758
Kaufman Oculocerebrofacial Syndrome
Narrow mouth, High palate, Preauricular skin tag, Carious teeth, Micrognathia, Thin skin, Smooth ... OMIM:244450
Aplasia Cutis Congenita
Skin ulcer, Aplasia cutis congenita over the scalp vertex, Facial palsy, Congenital localized abs... ORPHA:1114
Epidermolysis Bullosa, Junctional 1B, Severe
Milia, Atrophic scars, Congenital localized absence of skin, Enamel hypoplasia, Carious teeth OMIM:226700
Weaver Syndrome
Retrognathia, Mandibular prognathia, Diastasis recti, Camptodactyly, Cutis laxa, Melanocytic nevu... OMIM:277590
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology, Aplasia/Hypoplasia of the skin, Papule, Skin vesicle, Myopathy... ORPHA:257
Trisomy 20P
Abnormality of the kidney, Abnormal palate morphology, Thin vermilion border, Hypospadias, Short ... ORPHA:261318
Fliedner-Zweier Syndrome
Unilateral renal agenesis, High palate, Hydronephrosis, Long philtrum, Multicystic kidney dysplasia OMIM:620511
Arterial Tortuosity Syndrome
Myocarditis, Abnormal zygomatic bone morphology, Hyperextensible skin, Redundant skin, Esophagiti... ORPHA:3342
Anauxetic Dysplasia 3
Cutis laxa, Retrognathia, Oligodontia OMIM:618853
Cutis Laxa, Autosomal Recessive, Type Iic
Dental crowding, Mandibular prognathia, High palate, Narrow mouth, Median cleft palate, Camptodac... OMIM:617402
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Hydronephrosis, Abnormal tongue morphology ORPHA:531151
Mitochondrial Complex I Deficiency, Nuclear Type 35
Redundant neck skin, Elevated urinary 4-hydroxybutyric acid, Lacticaciduria OMIM:619003
Lenz-Majewski Hyperostotic Dwarfism
Epispadias, High, narrow palate, Hypospadias, Abnormal dental enamel morphology, Mandibular progn... ORPHA:2658
Mosaic Trisomy 8
Hypopigmented skin patches, Vesicoureteral reflux, High palate, Camptodactyly of finger, Microgna... ORPHA:96061
Raine Syndrome
Hydroureter, Gingival overgrowth, Mandibular prognathia, High palate, Narrow mouth, Microdontia, ... OMIM:259775
Autosomal Dominant Cutis Laxa
Redundant neck skin, Hyperextensible skin, Unilateral renal agenesis, Premature skin wrinkling, R... ORPHA:90348
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hyperextensible skin, Duplicated collecting system, Esophagitis, Hydronephrosis, Dermal transluce... ORPHA:541423
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal salivary gland morphology, Abnormality of the gastrointesti... ORPHA:85443
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Thin skin, Mandibular prognathia, Recurrent otitis media ORPHA:449291
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Thin skin, Abnormality of the dentition OMIM:607823
Lichen Planopilaris
Neoplasm of the oral cavity, Hypopigmented skin patches, Skin ulcer, Papule, Dermal atrophy, Hepa... ORPHA:525
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Congenital diaphragmatic hernia, Long philtrum, Thin vermilion border, Ureteral duplication, Vesi... OMIM:614080
Barber-Say Syndrome
Hyperextensible skin, Delayed eruption of teeth, Redundant skin, Aplasia/Hypoplasia of the skin, ... ORPHA:1231
Papillorenal Syndrome
Hematuria, Horseshoe kidney, Hyperextensible skin, Vesicoureteral reflux, Mild proteinuria, Nephr... OMIM:120330
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Wiedemann-Rautenstrauch Syndrome
Retrognathia, Hypospadias, Short philtrum, Abnormality of the dentition, Synovitis, Thin skin, Wi... ORPHA:3455
Congenital Disorder Of Glycosylation, Type Iie
Retrognathia, Excessive wrinkled skin, Neurogenic bladder, Narrow mouth, Protruding tongue, Micro... OMIM:608779
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Scaling skin, Chronic otitis media, Dental crowding, Cutis laxa, Wide mouth, Few cafe-au-lait spo... OMIM:619503
Superficial Epidermolytic Ichthyosis
Thin skin, Erythema ORPHA:455
Igg4-Related Thyroid Disease
Euthyroid goiter, Sialadenitis, Abnormal pituitary gland morphology, Nodular goiter, Dysphagia, G... ORPHA:64744
Cushing Disease
Purpura, Skin ulcer, Intra-oral hyperpigmentation, Thin skin, Proximal amyotrophy, Ecchymosis, Ac... ORPHA:96253
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Widely spaced teeth, Unilateral renal agenesis, Hypospadias, Short philtrum, Patent ductus arteri... ORPHA:487796
Webb-Dattani Syndrome
Retrognathia, Hyposthenuria, Neurogenic bladder, Vesicoureteral reflux, Hydronephrosis, Deep phil... OMIM:615926
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Seborrheic dermatitis, Redundant skin, Arthritis, High palate, Eczematoid dermatitis, Patent duct... OMIM:259100
Alport Syndrome 3A, Autosomal Dominant
Hematuria, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement membrane, Nep... OMIM:104200
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, High, narrow palate, Hypospadias, Short philtrum, Mandibular prognathia, Exaggerate... ORPHA:464738
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Enlarged kidney, Ureteral duplication, Long-chain dicarboxylic aciduria, Polycysti... OMIM:608836
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Sacral dimple, Triangular mouth, Vesicoureteral reflux, Renal cyst, Renal h... OMIM:618460
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Redundant neck skin, Abnormal renal morphology, High palate, Micrognathia, Hydronephrosis, Smooth... ORPHA:1655
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Esophageal ulceration, Gastric ulcer OMIM:618372
Cap Polyposis
Hematochezia, Atrophic gastritis, Colorectal polyposis ORPHA:160148
Cerebellar-Facial-Dental Syndrome
Limb hypertonia, Foot joint contracture, Micrognathia, Ureteropelvic junction obstruction, Hydron... ORPHA:444072
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Urinary incontinence, Skin tags, Recurrent otitis media, Redundant skin, Palmoplantar cutis laxa OMIM:616482
Granulomatosis With Polyangiitis
Chronic otitis media, Glomerulopathy, Purpura, Hematuria, Abnormal oral cavity morphology, Skin u... ORPHA:900
Classical-Like Ehlers-Danlos Syndrome Type 2
Narrow palate, Sacral dimple, Hyperextensible skin, Webbed neck, Periodontitis, Tooth malposition... ORPHA:536532
C Syndrome
Congenital diaphragmatic hernia, Thin vermilion border, Renal hypoplasia/aplasia, Sacral dimple, ... ORPHA:1308
Teebi-Shaltout Syndrome
High, narrow palate, Oligodontia, Narrow mouth, Camptodactyly, Ureteral stenosis, Prominent palat... OMIM:272950
Vacterl/Vater Association
Congenital diaphragmatic hernia, Ectopic kidney, Hypospadias, Hypoplasia of penis, Non-midline cl... ORPHA:887
Alport Syndrome 2, Autosomal Recessive
Hematuria, Nephrotic syndrome, Thickened glomerular basement membrane, Nephritis, Proteinuria, St... OMIM:203780
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis, Limb joint contracture, Limb hypertonia, Patent ductus arteriosus OMIM:620327
Fryns Syndrome
Congenital diaphragmatic hernia, Hypospadias, Non-midline cleft of the upper lip, Vesicoureteral ... ORPHA:2059
Hypermobile Ehlers-Danlos Syndrome
High, narrow palate, Hyperextensible skin, Dental crowding, Gingival overgrowth, Gingivitis, Micr... ORPHA:285
3C Syndrome
Orofacial cleft, High, narrow palate, Hypospadias, Hypoplasia of penis, Preauricular skin tag, Mi... ORPHA:7
Gabriele-De Vries Syndrome
Thick lower lip vermilion, Facial hypotonia, High palate, Abnormality of the dentition, Micrognat... OMIM:617557
Amelogenesis Imperfecta, Type Ig
Amelogenesis imperfecta, Polyuria, Gingival fibromatosis, Impaired renal concentrating ability, G... OMIM:204690
Lysinuric Protein Intolerance
Oroticaciduria, Hyperextensible skin, Pancreatitis, Cutis laxa, Skeletal muscle atrophy, Hyperlys... OMIM:222700
Microcephaly 26, Primary, Autosomal Dominant
Gingival overgrowth, Protruding tongue, Recurrent pneumonia, Hydronephrosis, Long philtrum OMIM:619179
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Long philtrum, Thin vermilion border, Hypoplasia of the zygomatic bone, Cutis laxa OMIM:614800
Atresia Of Urethra
Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux... ORPHA:105
Kabuki Syndrome
Congenital diaphragmatic hernia, Orofacial cleft, Renal hypoplasia/aplasia, Widely spaced teeth, ... ORPHA:2322
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
Wiedemann-Rautenstrauch Syndrome
Thin vermilion border, Pneumonia, Hypospadias, Premature skin wrinkling, Delayed eruption of teet... OMIM:264090
Chime Syndrome
Abnormality of the kidney, Supernumerary tooth, Skin ulcer, Short philtrum, Abnormality of the de... ORPHA:3474
Autosomal Recessive Robinow Syndrome
Chronic otitis media, Hypoplasia of penis, Wide mouth, Long philtrum, Sacral dimple, Nevus flamme... ORPHA:1507
Mosaic Trisomy 9
Webbed neck, Hypoplasia of penis, High palate, Camptodactyly of finger, Micrognathia, Hydronephro... ORPHA:99776
Cutis Laxa, Autosomal Recessive, Type Iid
Retrognathia, Redundant skin, Camptodactyly, Cutis laxa, Joint contracture, Micropenis OMIM:617403
Cat Eye Syndrome
Vesicoureteral reflux, Preauricular skin tag, Renal agenesis, Preauricular pit, Micrognathia, Cle... OMIM:115470
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Sacral dimple, Webbed neck, ... OMIM:620662
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Congenital localized absence of skin, Oral mucosal blisters OMIM:132000
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Widely-spaced maxillary central incisors, Thick lower lip vermilion, Hypospadias, Absent frontal ... OMIM:301040
Micro Syndrome
Short philtrum, Hypoplasia of penis, High palate, Micrognathia, Hydronephrosis, Abnormal localiza... ORPHA:2510
Thanatophoric Dysplasia Type 1
Abnormality of the kidney, Redundant skin, Excessive wrinkled skin, Patent ductus arteriosus ORPHA:1860
Cardiofaciocutaneous Syndrome 1
Multiple lentigines, Numerous nevi, Webbed neck, Open bite, High palate, Abnormality of the denti... OMIM:115150
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Atypical scarring of skin, Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Subcutaneous ... ORPHA:1366
Chromosome 17Q12 Deletion Syndrome
Retrognathia, Unilateral renal agenesis, Recurrent urinary tract infections, Mandibular prognathi... OMIM:614527
Gapo Syndrome
Hypopigmented skin patches, Abnormal palate morphology, Skin tags, Hyperextensible skin, Delayed ... ORPHA:2067
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the kidney, Thick lower lip vermilion, Hypoplasia of penis, Recurrent urinary trac... ORPHA:847
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Cl... ORPHA:2237
Enamel-Renal Syndrome
Amelogenesis imperfecta, Hypocalciuria, Renal insufficiency, Impaired renal concentrating ability... ORPHA:1031
Peroxisome Biogenesis Disorder 1A (Zellweger)
High, narrow palate, Redundant neck skin, Hypospadias, High palate, Protruding tongue, Renal cort... OMIM:214100
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Sacral dimple, Enlarged kidney, Hydronephrosis, Urethral atresia OMIM:314390
Thyrocerebroretinal Syndrome
Nephritis, Skeletal muscle atrophy OMIM:274240
Vascular Ehlers-Danlos Syndrome
Redundant skin, Microdontia, Cigarette-paper scars, Abnormal oral frenulum morphology, Macule, Cy... ORPHA:286
Occipital Horn Syndrome
Hyperextensible skin, Redundant skin, High palate, Ureteral obstruction, Hydronephrosis, Bladder ... OMIM:304150
Osteogenesis Imperfecta, Type Ii
Thin skin OMIM:166210
Loeys-Dietz Syndrome
Orofacial cleft, High palate, Camptodactyly of finger, Micrognathia, Bifid uvula, Thin skin, Mala... ORPHA:60030
Flynn-Aird Syndrome
Carious teeth, Dermal atrophy OMIM:136300
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Webbed neck, Narrow mouth, Downturned corners of mouth, Hydronep... ORPHA:1780
Pelvis-Shoulder Dysplasia