Gene Summary

Name:
decorin
Synonyms:
DC,  SLRR1B

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.

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 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
Multiple gastric polyps, Abnormality of the gastric mucosa OMIM:175505
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
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
Van Der Woude Syndrome
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... ORPHA:888
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Periodontal Ehlers-Danlos Syndrome
Agenesis of permanent teeth, Atrophic scars, Periodontitis, Atrophy of alveolar ridges, Hyperexte... ORPHA:75392
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, Recurrent bac... ORPHA:70592
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Elastosis Perforans Serpiginosa
Serpiginous cutaneous lesion, Annular cutaneous lesion, Skin-colored papule, Erythematous papule,... ORPHA:79148
Granulomatous Slack Skin
Acute kidney injury, Redundant skin, Cutis laxa, Erythema, Nephrocalcinosis ORPHA:33111
Gastric Cancer, Hereditary Diffuse
Stomach cancer, Chronic atrophic gastritis, Cleft upper lip, Cleft palate OMIM:137215
Premature Ovarian Failure 13
Oligomenorrhea OMIM:617442
Premature Ovarian Failure 15
Oligomenorrhea OMIM:618096
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis OMIM:614196
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
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Immunodeficiency 35
Recurrent viral infections, Recurrent respiratory infections, Recurrent mycobacterial infections,... OMIM:611521
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent pneumonia OMIM:613500
2p15-16.1 microdeletion syndrome
Camptodactyly of finger, Hydronephrosis DECIPHER:70
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Ehlers-Danlos Syndrome, Periodontal Type, 1
Soft skin, Palmoplantar cutis laxa, Thin skin, Periodontitis, Atrophic scars, Gingival recession,... OMIM:130080
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Elastoderma
Premature skin wrinkling, Cutis laxa, Erysipelas, Papule, Eczema, Skin nodule ORPHA:228240
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... OMIM:174000
Amyloidosis, Finnish Type
Renal insufficiency, Cutis laxa, Nephrotic syndrome OMIM:105120
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula, Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Dermoodontodysplasia
Thin skin, Dry skin, Hypodontia OMIM:125640
Ring Chromosome 8 Syndrome
Abnormal palate morphology, Hydronephrosis, Abnormality of the ureter ORPHA:1450
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of dental morphology, Thin skin, Thick vermilion border, Abnormality of the dentition... ORPHA:1810
6P22 Microdeletion Syndrome
Redundant skin, Abnormal palate morphology, Hydronephrosis, Patent ductus arteriosus ORPHA:251046
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Re... OMIM:256100
Salivary Duct Calculi
Abnormality of the mouth, Parotitis OMIM:181010
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Congenital Primary Megaureter
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... ORPHA:617
Ehlers-Danlos Syndrome, Classic Type, 2
Molluscoid pseudotumors, Soft skin, Cigarette-paper scars, Atrophic scars, Recurrent sinusitis, H... OMIM:130010
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Camptodactyly of finger, Cigarette-paper scars, Thin skin, Webbed neck... OMIM:612350
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Nk-Cell Enteropathy
Gastric ulcer, Hematochezia, Gastroesophageal reflux, Abnormality of the gastric mucosa, Colonic ... ORPHA:263665
Alport Syndrome
Hematuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuria, Thickene... ORPHA:63
Growth Factors, Combined Defect Of
Narrow mouth, Thin skin, Flexion contracture, Dermal atrophy, Micrognathia OMIM:233805
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Hydronephrosis, Hip contracture, Knee flexion contracture, High palate, El... ORPHA:85285
Congenital Heart Defects And Ectodermal Dysplasia
Thin skin, Premature loss of primary teeth, Microdontia, Widely spaced teeth, Dry skin OMIM:617364
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Immunodeficiency, Common Variable, 6
Enlarged kidney, Purpura, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glome... OMIM:613496
Absence Of Fingerprints-Congenital Milia Syndrome
Thin skin, Skin rash, Camptodactyly of finger, Milia ORPHA:1658
Acrogeria
Thin skin, Aplasia/Hypoplasia of the skin, Micrognathia, Excessive wrinkled skin, Skin ulcer ORPHA:2500
Dermoodontodysplasia
Thin skin, Mandibular prognathia, Melanocytic nevus, Tooth agenesis, Microdontia, Dry skin ORPHA:1660
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Redundant skin, Cutis laxa, Papule, Increased number of skin folds ORPHA:436274
Congenital Disorder Of Glycosylation, Type Iir
Hypospadias, Cutis laxa, Micrognathia OMIM:301045
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria OMIM:618913
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Narrow mouth, Thin skin, Atypical scarring of skin, Cutis laxa, Flexion contracture, Atrophic sca... ORPHA:75496
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Ovarian Dysgenesis 3
Primary amenorrhea OMIM:614324
Macdermot-Winter Syndrome
Camptodactyly of finger, Hydronephrosis OMIM:247990
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Nephropathy, Abnormal tubulointerstitial morphology OMIM:602114
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Weaver Syndrome
Long philtrum, Camptodactyly of finger, Redundant skin, Deep philtrum, Hypoplasia of penis, Retro... ORPHA:3447
Prolidase Deficiency
Pruritus, Carious teeth, Thin skin, Recurrent cystitis, Erythema, Crusting erythematous dermatiti... ORPHA:742
Hereditary Acrokeratotic Poikiloderma
Open bite, Narrow mouth, Thin skin, Erythema, Xerostomia, Abnormality of the urethra, Gingivitis,... ORPHA:2907
Gapo Syndrome
Tubulointerstitial fibrosis, Thick lower lip vermilion, Redundant skin, Abnormality of the dentit... OMIM:230740
Myopathy, Congenital, Progressive, With Scoliosis
Facial hypotonia, Renal atrophy, Congenital contracture, Hydronephrosis, Skeletal muscle atrophy,... OMIM:618578
Ménétrier Disease
Multiple gastric polyps, Gastrointestinal hemorrhage, Helicobacter pylori infection, Gastroesopha... ORPHA:2494
Glycogen Storage Disease Iv
Arthrogryposis multiplex congenita, Tubulointerstitial fibrosis, Skeletal muscle atrophy OMIM:232500
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Hypohidrotic Ectodermal Dysplasia
Abnormality of dental morphology, Thin skin, Abnormality of the dentition, Thick vermilion border... ORPHA:238468
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Soft skin, Dental crowding, Thin skin, Camptodactyly, Congenital diaphragmatic her... OMIM:617602
Variant Abeta2M Amyloidosis
Gastrointestinal infarctions, Abnormality of the tongue, Intestinal perforation, Abnormal salivar... ORPHA:314652
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia cutis congenita, Skin erosion, Atrophic scars, Muscular dystrophy, Glomerular sclerosis, ... ORPHA:158684
Chromosome 18P Deletion Syndrome
Tooth malposition, Redundant neck skin, High palate, Micrognathia, Micropenis OMIM:146390
Chronic Intestinal Pseudoobstruction
Abnormal intestine morphology, Pyloric stenosis, Intestinal malrotation ORPHA:2978
Arthrochalasia Ehlers-Danlos Syndrome
Thin skin, Retrognathia, Micrognathia, Hyperextensible skin ORPHA:1899
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Absence of renal corticomedullary differentiation, ... OMIM:263200
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thin skin, Flexion contracture, Thenar muscle atrophy, Hyperextensible skin ORPHA:157965
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Recurrent bacterial infections OMIM:608957
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Thin skin, Nephrolithiasis ORPHA:189427
Familial Partial Lipodystrophy, Dunnigan Type
Thin skin, Skeletal muscle hypertrophy, Xanthomatosis, Glomerulopathy, Abnormality of skeletal mu... ORPHA:2348
Cranioectodermal Dysplasia 4
Thin vermilion border, Cutis laxa, Smooth philtrum, Nephropathy, Stage 5 chronic kidney disease, ... OMIM:614378
Brooke-Spiegler Syndrome
Salivary gland neoplasm, Abnormality of the submandibular glands, Abnormality of the sublingual g... ORPHA:79493
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Small, conical teeth, Oligodontia, Aplasia cutis congenita, Abnormality of the dentition ORPHA:79499
Focal Dermal Hypoplasia
Open bite, Camptodactyly of finger, Abnormal dental enamel morphology, Diastasis recti, Horseshoe... ORPHA:2092
Cat-Eye Syndrome
Preauricular pit, Preauricular skin tag, Abnormal localization of kidney, Hydronephrosis, Renal h... ORPHA:195
Kosaki Overgrowth Syndrome
Thin upper lip vermilion, Thin skin, Hyperextensible skin OMIM:616592
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Dermal atrophy, Macule, Aplasia/Hypoplasia of the skin ORPHA:1962
Gastric Volvulus, Intrathoracic
Hiatus hernia, Volvulus OMIM:137210
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Redundant skin, Micrognathia, Cleft palate ORPHA:1779
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Redundant skin, Cutis laxa, Papule ORPHA:91135
Focal Facial Dermal Dysplasia Type Iii
Short philtrum, Downturned corners of mouth, Redundant skin, Hypopigmented skin patches, Multiple... ORPHA:1807
Macs Syndrome
Bronchiectasis, Thick lower lip vermilion, Redundant skin, Cutis laxa, Hyperextensible skin, Irre... OMIM:613075
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Arthrogryposis multiplex congenita, Vesicoureteral reflux, Hydronephrosis, Cleft palate, Microgna... OMIM:618265
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Thin skin, Atypical scarring of skin, Hyperextensible skin, Petechiae, Striae distensae OMIM:225310
19Q13.11 Microdeletion Syndrome
Thin vermilion border, Aplasia cutis congenita, Thin skin, Wide mouth, Solitary median maxillary ... ORPHA:217346
Muir-Torre Syndrome
Salivary gland neoplasm, Neoplasm of the liver, Adenoma sebaceum, Neoplasm of the stomach, Colon ... ORPHA:587
X-Linked Ehlers-Danlos Syndrome
Thin skin, Hyperextensible skin ORPHA:75497
Trichorhinophalangeal Syndrome Type 2
Long philtrum, Redundant skin, Abnormal palate morphology, Deep philtrum, Recurrent urinary tract... ORPHA:502
Iga Nephropathy, Susceptibility To, 2
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:613944
Rapp-Hodgkin Syndrome
Narrow mouth, Small, conical teeth, Thin skin, Recurrent otitis media, Hypodontia, Bifid uvula, C... OMIM:129400
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma OMIM:619182
Distal Trisomy 6P
Thin vermilion border, Narrow mouth, Renal hypoplasia, Abnormality of the urinary system, Sacral ... ORPHA:1745
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Acute kidney injury, Oral ulcer, Synovitis, Abnormal glomerular mesangium morphology, ... ORPHA:567544
Scarf Syndrome
Enamel hypoplasia, Long philtrum, Diastasis recti, Webbed neck, Cutis laxa, Perineal hypospadias,... ORPHA:3134
8P23.1 Duplication Syndrome
Long philtrum, Hydronephrosis, Thick vermilion border ORPHA:251076
Iga Nephropathy, Susceptibility To, 1
Hematuria, Purpura, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, ... OMIM:161950
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Ileitis, Protein-losing enteropathy, Pancolitis, Gastritis, Abnormal int... OMIM:619079
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Increased urinary potassium, Renal salt wa... OMIM:602522
Tetraploidy
Short philtrum, Preauricular skin tag, Hydronephrosis, Cleft palate, Renal hypoplasia/aplasia, Mi... ORPHA:3305
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Short philtrum, Thin vermilion border, Thin skin, Skin dimple, Micrognathia ORPHA:261304
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Arthrogryposis multiplex congenita, Renal hypoplasia, Microretrognathia, Renal dysplasia, Redunda... OMIM:236500
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Thin skin, Erythema, Dermal atrophy, Crusting erythematous dermatitis, Erythematous plaque, Milia ORPHA:158673
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Aplasia cutis congenita, Congenital absence of skin of limbs OMIM:600360
Orofaciodigital Syndrome Xv
Hydronephrosis, Lobulated tongue OMIM:617127
Cutis Laxa, Autosomal Dominant 3
Cutis laxa, Unilateral renal agenesis, Premature skin wrinkling OMIM:616603
Juvenile Hyaline Fibromatosis
Progressive flexion contractures, Gingival fibromatosis, Subcutaneous nodule, Gingival overgrowth... ORPHA:2028
Familial Cervical Artery Dissection
Thin skin, Facial palsy, Striae distensae ORPHA:36382
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Thin skin, Atrophic scars, Soft skin, Hyperextensible skin OMIM:225320
Vesicoureteral Reflux 3
Vesicoureteral reflux, Hydronephrosis, Hydroureter OMIM:613674
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephritis, Proteinuria OMIM:161900
Cutis Laxa, Autosomal Recessive, Type Iiib
Thin vermilion border, Dermal translucency, Thin skin, Cutis laxa, Elbow flexion contracture, Exc... OMIM:614438
Silver-Russell Syndrome 2
Thin skin, Micrognathia, Downturned corners of mouth OMIM:618905
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Thin skin, Aplasia/Hypoplasia of the skin, Skin ulcer, Purpura ORPHA:743
Ehlers-Danlos Syndrome, Classic-Like, 2
Redundant skin, Webbed neck, Atrophic scars, Hyperextensible skin, High palate, Micrognathia, Ost... OMIM:618000
Agel Amyloidosis
Pruritus, Proteinuria, Cutis laxa, Xerostomia, Dry skin, Keratoconjunctivitis sicca, Facial palsy... ORPHA:85448
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Musculocontractural Ehlers-Danlos Syndrome
Long philtrum, Arthrogryposis multiplex congenita, Horseshoe kidney, Narrow mouth, Decreased musc... ORPHA:2953
Recombinant Chromosome 8 Syndrome
Downturned corners of mouth, Thick lower lip vermilion, Camptodactyly, Patent ductus arteriosus, ... OMIM:179613
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Cranioectodermal Dysplasia 3
Nephronophthisis, Hypoplasia of teeth, Everted lower lip vermilion, Cutis laxa, Stage 5 chronic k... OMIM:614099
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Abnormal dental enamel morphology, Thin skin, Microdontia, Hypoplasia of the zygomatic bone, Clef... ORPHA:1812
Hinman Syndrome
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... ORPHA:84085
Pituitary Adenoma 4, Acth-Secreting
Facial erythema, Purpura, Thin skin, Striae distensae, Skeletal muscle atrophy, Nephrolithiasis, ... OMIM:219090
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Immunodeficiency 49
Short philtrum, Cutis laxa, Natal tooth, Micrognathia, Inflammatory abnormality of the skin OMIM:617237
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Weyers Ulnar Ray/Oligodactyly Syndrome
Solitary median maxillary central incisor, Hydronephrosis, Cleft upper lip, Cleft palate, High pa... OMIM:602418
Porokeratosis Of Mibelli
Pruritus, Aplasia/Hypoplasia of the skin ORPHA:735
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Long philtrum, Open mouth, Renal hypoplasia, Recurrent otitis media, Thin upper lip vermilion, Hy... OMIM:618494
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Thin skin, Aplasia/Hypoplasia of the skin, Purpura ORPHA:745
Posterior Urethral Valve
Dysuria, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Unilateral renal ... ORPHA:93110
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Cigarette-paper scars, Decreased muscle mass, Hyperextensible skin, Excessive skin wrinkling on d... OMIM:608763
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Frontometaphyseal Dysplasia 1
Delayed eruption of teeth, Camptodactyly of finger, Scapular winging, Hydroureter, Persistence of... OMIM:305620
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Preauricular skin tag, Ureteropelvic junction ... ORPHA:107
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Xanthelasma, Carious teeth, Tubulointerstitial fibrosis, Enl... ORPHA:79259
Glass Syndrome
Oligodontia, Narrow mouth, Dental crowding, Thin skin, Camptodactyly, Smooth philtrum, Cleft pala... OMIM:612313
Congenital Disorder Of Glycosylation, Type Iig
Pierre-Robin sequence, High palate, Camptodactyly, Smooth philtrum, Thin upper lip vermilion, Cle... OMIM:611209
Amyloidosis, Primary Localized Cutaneous, 1
Pruritus, Cutis laxa, Scaling skin, Dry skin OMIM:105250
Spondyloenchondrodysplasia With Immune Dysregulation
Hypopigmented skin patches on arms, Tubulointerstitial fibrosis, Purpura, Rheumatoid arthritis, R... OMIM:607944
Junctional Epidermolysis Bullosa With Pyloric Atresia
Enamel hypoplasia, Hematuria, Aplasia cutis congenita, Urinary bladder inflammation, Renal dyspla... ORPHA:79403
Xanthinuria, Type I
Xanthinuria, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis, Myopathy OMIM:278300
Fetal Encasement Syndrome
Mandibular aplasia, Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe kidney, Thin sk... OMIM:613630
Dubin-Johnson Syndrome
Abnormality of the gastric mucosa ORPHA:234
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Short philtrum, Narrow mouth, Bronchiectasis, Bifid ureter, Thin skin, Increased number of skin f... OMIM:601347
Short Syndrome
Delayed eruption of teeth, Downturned corners of mouth, Premature skin wrinkling, Thin skin, Hypo... OMIM:269880
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Hy... OMIM:191800
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Micrognathia, Hydronephrosis, Skeletal muscle atrophy OMIM:607598
Arima Syndrome
Nephronophthisis, Tubulointerstitial fibrosis, Wide mouth, Renal tubular atrophy, Renal corticome... OMIM:243910
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Hereditary Xanthinuria
Decreased urinary urate, Hematuria, Acute kidney injury, Xanthinuria, Xanthine nephrolithiasis, I... ORPHA:3467
Cushing Disease
Thin skin, Myopathy, Recurrent skin infections, Nephrolithiasis, Acne ORPHA:96253
Basel-Vanagaite-Smirin-Yosef Syndrome
Short philtrum, Everted lower lip vermilion, Nevus, Tented upper lip vermilion, Hydronephrosis, C... OMIM:616449
Myopathic Ehlers-Danlos Syndrome
Decreased muscle mass, Soft skin, Congenital finger flexion contractures, Congenital muscular tor... ORPHA:536516
Mental Retardation, Autosomal Dominant 42
Limb hypertonia, Hydronephrosis, Cleft palate OMIM:616973
Man1B1-Cdg
Short philtrum, Cutis laxa, Smooth philtrum, Thick vermilion border, Thin upper lip vermilion, Mu... ORPHA:397941
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Molluscoid pseudotumors, Soft skin, Dental crowding, Palmoplantar cutis laxa, Thin skin, Hyperext... OMIM:225400
Classical-Like Ehlers-Danlos Syndrome Type 1
Thin skin, Hyperextensible skin, Skeletal muscle atrophy ORPHA:230839
Scarf Syndrome
Enamel hypoplasia, Long philtrum, Diastasis recti, Webbed neck, Cutis laxa, Perineal hypospadias,... OMIM:312830
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Soft skin, Taurodontia, Thin skin, Everted lower lip vermilion, Thick vermilion border, Hypodonti... OMIM:305100
Progeroid Syndrome, Petty Type
Shagreen patch, Redundant skin, Cutis laxa, Mandibular prognathia, Everted lower lip vermilion, T... ORPHA:2963
Axenfeld-Rieger Syndrome
Redundant skin, Everted lower lip vermilion, Hypodontia, Hypospadias, Microdontia, Hypoplasia of ... ORPHA:782
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
C Syndrome
Renal cortical cysts, Cutis laxa, Patent ductus arteriosus, Wide mouth, High palate, Micrognathia... OMIM:211750
Ulerythema Ophryogenesis
Erythema, Papule, Aplasia/Hypoplasia of the skin, Inflammatory abnormality of the skin ORPHA:3406
Self-Improving Dystrophic Epidermolysis Bullosa
Carious teeth, Aplasia cutis congenita, Skin erosion, Atrophic scars, Oral mucosal blisters, Milia ORPHA:79411
Aldh18A1-Related De Barsy Syndrome
Hyperextensible skin ORPHA:35664
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst OMIM:613390
Renal Hypodysplasia/Aplasia 2
Redundant skin OMIM:615721
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Urethral valve, Recurrent urinary tract infections, Enuresis, ... OMIM:236730
Branchio-Oculo-Facial Syndrome
Atypical scarring of skin, High palate, Everted lower lip vermilion, Deep philtrum, Upper lip pit... ORPHA:1297
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Ureteral atresia, Hydronephrosis, Abnormality of the diaphragm OMIM:183802
Adult Syndrome
Oligodontia, Thin skin, Premature loss of permanent teeth, Hypodontia, Oral cleft, Conjunctivitis... OMIM:103285
Trisomy 17P
Macroglossia, Narrow mouth, Urethral valve, Flexion contracture, Patent ductus arteriosus, Wide m... ORPHA:261290
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Renal tubular atrophy, Gout, Renal insufficiency, Nephritis OMIM:162000
Suleiman-El-Hattab Syndrome
Long philtrum, Drooling, Downturned corners of mouth, Microretrognathia, Webbed neck, Wide mouth,... OMIM:618950
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Soft, doughy skin, Frontal open bite, Recurrent mandibular subluxations, Redundant skin, Gingival... OMIM:225410
Porokeratosis Plantaris Palmaris Et Disseminata
Aplasia/Hypoplasia of the skin ORPHA:737
Cutis Laxa, Autosomal Recessive, Type Ic
Long philtrum, Cutis laxa, Bladder diverticulum, Hydronephrosis, Retrognathia, Micrognathia, Mala... OMIM:613177
Lenz-Majewski Hyperostotic Dwarfism
Chordee, Thin skin, Cutis laxa, Abnormality of the dentition, Microglossia, Knee flexion contract... OMIM:151050
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Thin skin, Abnormal penis morphology, Subcutaneous nodule, Multiple cafe-au-lait spots, Dry skin ORPHA:457059
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Long philtrum, Thin vermilion border, Cutis laxa OMIM:614800
Prune Belly Syndrome
Hydroureter, Urethral valve, Aplasia of the abdominal wall musculature, Patent ductus arteriosus,... OMIM:100100
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydronephrosis OMIM:618161
Mitochondrial Complex I Deficiency, Nuclear Type 30
Redundant skin OMIM:301021
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Aminoaciduria, Calcinosis, Hydronephrosis, High palate, Micrognathia OMIM:617913
Xfe Progeroid Syndrome
Enamel hypoplasia, Proteinuria, Dermal atrophy, Renal insufficiency, Dry skin OMIM:610965
Trisomy 13
Long philtrum, Multiple renal cysts, Patent ductus arteriosus, Abnormality of the dentition, Prea... ORPHA:3378
Pregnancy Loss, Recurrent, Susceptibility To, 3
Recurrent spontaneous abortion OMIM:614391
Pregnancy Loss, Recurrent, Susceptibility To, 2
Recurrent spontaneous abortion OMIM:614390
Pregnancy Loss, Recurrent, Susceptibility To, 1
Recurrent spontaneous abortion OMIM:614389
Mandibuloacral Dysplasia
Abnormal tongue morphology, Hypoplasia of teeth, Dental crowding, Thin skin, High palate, Contrac... ORPHA:2457
Pparg-Related Familial Partial Lipodystrophy
Marked muscular hypertrophy, Thin skin, Skeletal muscle hypertrophy, Xanthomatosis, Calf muscle p... ORPHA:79083
Primary Pigmented Nodular Adrenocortical Disease
Thin skin, Myopathy, Striae distensae, Skeletal muscle atrophy ORPHA:189439
Geroderma Osteodysplastica
Thin skin, Redundant skin, Mandibular prognathia, Hyperextensible skin, Malar flattening ORPHA:2078
Ablepharon Macrostomia Syndrome
Camptodactyly of finger, Thin vermilion border, Thin skin, Redundant skin, Wide mouth, Dry skin, ... ORPHA:920
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Cutis laxa, Eclabion, Scaling skin, Dry skin ORPHA:2269
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
X-Linked Intellectual Disability Due To Gria3 Mutations
Short philtrum, Narrow palate, Facial hypotonia, Open mouth, Abnormality of muscle size, Mandibul... ORPHA:364028
Cutis Laxa, Autosomal Recessive, Type Iia
Long philtrum, Carious teeth, Narrow mouth, Redundant skin, Cutis laxa, High palate, Malar flatte... OMIM:219200
Toluene Embryopathy
Thin vermilion border, Smooth philtrum, Abnormal localization of kidney, Hydronephrosis, Hypoplas... ORPHA:1920
Acrofacial Dysostosis Syndrome Of Rodriguez
Short philtrum, Narrow mouth, Thin skin, High palate, Micrognathia OMIM:201170
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Long philtrum, Renal hypoplasia, Mandibular prognathia, Diaphragmatic eventration, Smooth philtru... OMIM:618975
Cutis Laxa, Autosomal Dominant 2
Cutis laxa, Premature skin wrinkling OMIM:614434
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Soft skin, Thin skin, Skeletal... OMIM:112250
Cardiac-Valvular Ehlers-Danlos Syndrome
Tendon rupture, Dental crowding, Thin skin, Atrophic scars, Hyperextensible skin, Left ventricula... ORPHA:230851
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Thin skin OMIM:259410
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Ovarian neoplasm, Colorectal polyposis, Adenomatous... ORPHA:157798
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Cutis laxa, Long upper lip, Hyperextensible skin, Cleft palate OMIM:615349
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Macroglossia, Diastasis recti, Flexion contracture of finger, Open mouth, Camptodactyly, Flexion ... ORPHA:254528
Reynolds Syndrome
Dysphagia, Xerostomia, Gastroesophageal reflux, Abnormality of the gastric mucosa ORPHA:779
Esophageal Ring, Lower
Dysphagia, Hiatus hernia OMIM:133240
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormal localization of kidney, Abnormality of the ureter, Pr... ORPHA:1834
Progressive Hemifacial Atrophy
Aplasia/Hypoplasia of the skin, Micrognathia, Abnormality of the mandible ORPHA:1214
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral re... ORPHA:2704
Papillorenal Syndrome
Soft skin, Renal malrotation, Horseshoe kidney, Renal hypoplasia, Hyperextensible skin, Multicyst... OMIM:120330
Pseudoprogeria Syndrome
Thin skin ORPHA:2985
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Cutis laxa OMIM:270420
Cutis Laxa-Marfanoid Syndrome
Redundant skin, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Cutis laxa, Congenital diaphragmatic hernia OMIM:614100
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Carious teeth, Oligodontia, Hydroureter, Thin skin, Duplicated collecting system, Xerostomia, Ves... OMIM:129900
Thyrocerebrorenal Syndrome
Abnormality of the musculature of the limbs, Renal insufficiency, Nephritis ORPHA:3327
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Patent ductus arteriosus, Increased size of the mandible, Hydronephrosis, Smooth philtrum OMIM:300048
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, Thin vermilion border, Long philtrum, Pierre-Robin sequence, Aplasia/Hypop... ORPHA:1358
Oculocerebral Hypopigmentation Syndrome, Cross Type
Narrow mouth, Thin skin, Abnormal palate morphology, Abnormality of the urinary system, Ureteral ... ORPHA:2719
Stiff Skin Syndrome
Subcutaneous nodule, Lack of skin elasticity, Nephrolithiasis, Aplasia/Hypoplasia of the skin ORPHA:2833
Williams-Beuren Region Duplication Syndrome
Short philtrum, Chronic otitis media, Unilateral renal agenesis, Diastema, Patent ductus arterios... OMIM:609757
Desmoid Tumor
Subcutaneous nodule, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Muscular dystrophy, Renal dysplasia, Renal cyst, Hydronephrosis, Micropenis OMIM:615287
Brain Malformations With Or Without Urinary Tract Defects
Narrow mouth, Renal hypoplasia, Thin upper lip vermilion, Vesicoureteral reflux, Hydronephrosis OMIM:613735
Emanuel Syndrome
Dental crowding, Submucous cleft lip, Patent ductus arteriosus, Broad jaw, Congenital diaphragmat... ORPHA:96170
Intellectual Disability, Buenos-Aires Type
Open bite, Abnormality of dental morphology, Mandibular prognathia, Hydronephrosis, High palate, ... ORPHA:3079
Stuve-Wiedemann Syndrome
Pursed lips, Abnormal dental enamel morphology, Thin skin, Flexion contracture of toe, Knee flexi... OMIM:601559
Autosomal Dominant Cutis Laxa
Redundant skin, Cutis laxa, Premature skin wrinkling ORPHA:90348
Combined Oxidative Phosphorylation Deficiency 5
Abnormal renal tubule morphology, Retrognathia, Redundant neck skin OMIM:611719
Exostoses With Anetodermia And Brachydactyly, Type E
Dermal atrophy OMIM:133690
Dermatosparaxis Ehlers-Danlos Syndrome
Esophagitis, Thin skin, Hyperextensible skin, Retrognathia, Micrognathia, Excessive wrinkled skin ORPHA:1901
Xeroderma Pigmentosum
Craniofacial hyperostosis, Thin skin, Melanocytic nevus, Aminoaciduria, Abnormality of the dentit... ORPHA:910
Netherton Syndrome
Skin rash, Erythroderma, Aminoaciduria, Ectopic kidney, Hydronephrosis, Eczema, Dry skin ORPHA:634
8P Inverted Duplication/Deletion Syndrome
Long philtrum, Small hypothenar eminence, Everted lower lip vermilion, Abnormality of the urinary... ORPHA:96092
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Long philtrum, Carious teeth, Decreased muscle mass, Redundant skin, Cutis laxa, Smooth philtrum,... ORPHA:357074
Diabetic Embryopathy
Aplasia/Hypoplasia of the abdominal wall musculature, Hydronephrosis, Cleft palate, Renal hypopla... ORPHA:1926
Mandibuloacral Dysplasia With Type A Lipodystrophy
Thin skin, Flexion contracture, Abnormality of the dentition, Dermal atrophy, High palate, Lack o... ORPHA:90153
Mesomelia-Synostoses Syndrome
Long philtrum, Narrow mouth, Aplasia/Hypoplasia of the uvula, Hydronephrosis, Abnormal oral frenu... ORPHA:2496
Sucrosuria, Hiatus Hernia And Mental Retardation
Hiatus hernia OMIM:272000
Ogden Syndrome
Microretrognathia, Cutis laxa, Capillary malformation, Torticollis, High, narrow palate, Everted ... ORPHA:276432
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Cutis laxa OMIM:612379
Fibrinolytic Defect
Hyperextensible skin OMIM:134900
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hyperextensible skin OMIM:615937
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Thin skin, Skeletal muscle hypertrophy, Xanthomatosis, Muscle hypertrophy of the lower extremitie... ORPHA:280365
Koolen-De Vries Syndrome
Abnormal dental enamel morphology, Narrow palate, Everted lower lip vermilion, High, narrow palat... ORPHA:96169
De Barsy Syndrome
Delayed eruption of teeth, Decreased muscle mass, Narrow mouth, Dermal translucency, Small, conic... ORPHA:2962
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Soft, doughy skin, Renal neoplasm, Carious teeth, Long philtrum, Dermal translucency, Thin skin, ... ORPHA:536467
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Camptodactyly of finger, Micrognathia, Hydronephrosis, Hypoplasia of penis ORPHA:2083
Lamellar Ichthyosis
Pruritus, Erythroderma, Everted lower lip vermilion, Chronic otitis media, Abnormality of the den... ORPHA:313
Periventricular Nodular Heterotopia
Thin skin, Patent ductus arteriosus ORPHA:98892
Even-Plus Syndrome
Atopic dermatitis, Aplasia cutis congenita, Renal hypoplasia, Recurrent urinary tract infections,... OMIM:616854
Meier-Gorlin Syndrome 1
Narrow mouth, Thick lower lip vermilion, Thin skin, Camptodactyly, Flexion contracture, Joint con... OMIM:224690
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Oligodontia, Horseshoe kidney, Narrow palate, Narrow mouth, Conical in... OMIM:235510
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Soft skin, Atrophic scars, Hyperextensible skin, Premature osteoarthritis, Malar flattening OMIM:130060
Blepharonasofacial Malformation Syndrome
Long philtrum, Redundant skin, Non-midline cleft lip, Tooth agenesis, Cleft palate ORPHA:1252
Thanatophoric Dysplasia
Redundant skin, Patent ductus arteriosus, Abnormality of the kidney ORPHA:2655
Distal Tetrasomy 15Q
Horseshoe kidney, Camptodactyly, Flexion contracture, Patent ductus arteriosus, Nephroblastoma, P... ORPHA:314588
Takenouchi-Kosaki Syndrome
Long philtrum, Short philtrum, Downturned corners of mouth, Webbed neck, Camptodactyly, Nevus, Un... OMIM:616737
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Aplasia cutis congenita, Atrophic scars, Scarring alopecia of scalp, Oral muco... ORPHA:79402
Eec Syndrome
Urethral atresia, Carious teeth, Abnormal dental enamel morphology, Taurodontia, Nevus, Tooth age... ORPHA:1896
Pseudoxanthoma Elasticum
Renovascular hypertension, Yellow papule, White oral mucosal macule, Cutis laxa OMIM:264800
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Atrophic scars, Subcutaneous nodule, Skin plaque, Dermal atrophy, Milia, Papule ORPHA:89843
Genitopatellar Syndrome
Long philtrum, Delayed eruption of teeth, Arthrogryposis multiplex congenita, Multicystic kidney ... ORPHA:85201
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Webbed neck, Flexion contracture, Unilateral cleft lip, Hydronephrosis, Cleft palate, Hypospadias... OMIM:616897
Localized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Abnormality of dental color, Dental enamel pits, Aplasia cutis congenita, Atyp... ORPHA:251393
Recombinant 8 Syndrome
Camptodactyly of finger, Downturned corners of mouth, Redundant skin, Chronic otitis media, Paten... ORPHA:96167
Cardiofaciocutaneous Syndrome
Long philtrum, Redundant skin, Webbed neck, Hyperextensible skin, Dry skin, Hydronephrosis, Hypop... ORPHA:1340
Intrinsic Factor Deficiency
Malabsorption, Absence of intrinsic factor OMIM:261000
Barber-Say Syndrome
Delayed eruption of teeth, Thin vermilion border, Redundant skin, Mandibular prognathia, Wide mou... OMIM:209885
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Pruritus, Periodontitis, Moderate albuminuria, Premature loss of teeth, Hydronephrosis, Dentinoge... OMIM:619269
Cutis Laxa, Autosomal Recessive, Type Iiia
Thin skin, Cutis laxa, Narrow mouth OMIM:219150
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Dermal atrophy, Anetoderma OMIM:250450
Diabetes Insipidus, Neurohypophyseal Type
Polyuria, Hydronephrosis OMIM:304900
Marshall-Smith Syndrome
Open mouth, Thin skin, Protruding tongue, Gingival overgrowth, Retrognathia ORPHA:561
Costello Syndrome
Macroglossia, Abnormal dental enamel morphology, Narrow palate, Thickened Achilles tendon, Redund... ORPHA:3071
Autosomal Recessive Cutis Laxa Type 1
Pyelonephritis, Redundant skin, Cutis laxa, Recurrent urinary tract infections, Multiple bladder ... ORPHA:90349
Menkes Disease
Cutis laxa OMIM:309400
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Pyelonephritis, Melanocytic nevus, Keloids, Renal dysplasia, Torticollis, Nephritis, Unilateral r... OMIM:314300
Hardikar Syndrome
Pruritus, Hydroureter, Recurrent urinary tract infections, Patent ductus arteriosus, Cholangitis,... OMIM:612726
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Sialadenitis, Abnormal salivary gland morphology, Enlargement of paroti... ORPHA:449432
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hematuria, Acute kidney injury, Renovascular hypertension, ... ORPHA:49041
Rin2 Syndrome
Long philtrum, Redundant skin, Hyperextensible skin, Irregular dentition, Abnormal lip morphology... ORPHA:217335
Kyphoscoliotic Ehlers-Danlos Syndrome
Soft, doughy skin, Thin skin, Atypical scarring of skin, Hyperextensible skin, Bladder diverticul... ORPHA:536545
Trisomy 1Q
Camptodactyly of finger, Narrow mouth, Microretrognathia, Congenital megaureter, Patent ductus ar... ORPHA:261344
Hyperkeratosis Lenticularis Perstans
Pruritus, Papule, Skin ulcer, Aplasia/Hypoplasia of the skin ORPHA:409
Coffin-Lowry Syndrome
Delayed eruption of teeth, Narrow palate, Advanced eruption of teeth, Abnormality of dental morph... ORPHA:192
Chromosome 2P16.1-P15 Deletion Syndrome
Long philtrum, Everted lower lip vermilion, Camptodactyly, Thin upper lip vermilion, Hydronephros... OMIM:612513
Ritscher-Schinzel Syndrome 1
Hypospadias, Micrognathia, Hydronephrosis, Cleft palate OMIM:220210
Focal Facial Dermal Dysplasia Type I
Aplasia cutis congenita, Downturned corners of mouth, Spotty hypopigmentation, Atrophic scars, Th... ORPHA:79133
Ehlers-Danlos Syndrome, Classic-Like
Soft skin, Proximal amyotrophy, Unilateral renal agenesis, Hyperextensible skin, Vesicoureteral r... OMIM:606408
Thanatophoric Dysplasia Type 2
Redundant skin, Patent ductus arteriosus, Abnormality of the kidney ORPHA:93274
Developmental Delay With Or Without Dysmorphic Facies And Autism
Short philtrum, Microphallus, Renal hypoplasia, Patent ductus arteriosus, Wide mouth, Smooth phil... OMIM:618454
Kleefstra Syndrome
Delayed eruption of teeth, Macroglossia, Downturned corners of mouth, Mandibular prognathia, Chro... ORPHA:261494
Mitochondrial Complex I Deficiency, Nuclear Type 35
Redundant neck skin, Lacticaciduria, Elevated urinary 4-hydroxybutyric acid OMIM:619003
Geroderma Osteodysplasticum
Periodontitis, Mandibular prognathia, Camptodactyly, Cutis laxa, Malar flattening, Hypoplasia of ... OMIM:231070
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
High palate, Limb hypertonia, Hydronephrosis, Cleft palate ORPHA:488613
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Long philtrum, Diastasis recti, Abnormality of the mouth, Arthrogryposis multiplex congenita, Nar... OMIM:601776
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Smooth philtrum, Malar flattening, Thin upper lip vermilion, Redundant neck skin, Hydronephrosis,... OMIM:235255
Cutis Laxa, Autosomal Recessive, Type Iib
Redundant skin, Malar flattening OMIM:612940
Marden-Walker Syndrome
Arthrogryposis multiplex congenita, Narrow mouth, Hydroureter, Muscular dystrophy, Aplasia/Hypopl... ORPHA:2461
Raine Syndrome
Enamel hypoplasia, Arthrogryposis multiplex congenita, Narrow mouth, Hydroureter, Mandibular prog... OMIM:259775
Microphthalmia, Lenz Type
Delayed eruption of teeth, Camptodactyly of finger, Abnormality of dental morphology, Hydroureter... ORPHA:568
Adult Syndrome
Abnormality of dental morphology, Thin skin, Melanocytic nevus, Abnormality of the dentition, Ski... ORPHA:978
Melnick-Needles Syndrome
Delayed eruption of teeth, Tooth malposition, Craniofacial hyperostosis, Vesicoureteral reflux, H... ORPHA:2484
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Thin skin, Abnormality of the dentition OMIM:607823
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Arthrogryposis multiplex congenita, Duplicated collecting system, Hypodontia, Redundant neck skin... OMIM:301056
22Q11.2 Duplication Syndrome
Micrognathia, Smooth philtrum, Urethral stenosis, Hydronephrosis, Cleft palate, Displacement of t... ORPHA:1727
Benign Schwannoma
Abnormal parotid gland morphology, Abnormal esophagus morphology, Intestinal polyposis ORPHA:252164
Arterial Tortuosity Syndrome
Long philtrum, Cutis laxa, Flexion contracture, Congenital diaphragmatic hernia, High palate, Sof... OMIM:208050
Hypermobile Ehlers-Danlos Syndrome
Soft skin, Tendon rupture, Aplasia/Hypoplasia of the abdominal wall musculature, Thin skin, Abnor... ORPHA:285
Orofaciodigital Syndrome Type 1
Open bite, Abnormal dental enamel morphology, Tongue nodules, Odontogenic neoplasm, Hamartoma of ... ORPHA:2750
Cranioectodermal Dysplasia 2
High palate, Everted lower lip vermilion, Cutis laxa, Smooth philtrum, Patent ductus arteriosus, ... OMIM:613610
Igg4-Related Kidney Disease
Hematuria, Acute kidney injury, Pericarditis, Interstitial pneumonitis, Urinary bladder inflammat... ORPHA:449395
Noonan Syndrome 4
Webbed neck, Ureteral duplication, Wide mouth, Thick vermilion border, Hydronephrosis, Dental mal... OMIM:610733
Carpenter Syndrome 1
Agenesis of permanent teeth, Hydroureter, Camptodactyly, Patent ductus arteriosus, Persistence of... OMIM:201000
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Flexion contracture, Patent ductus arteriosus, Tented upper lip vermilion, Sacr... OMIM:618460
Mandibuloacral Dysplasia With Type B Lipodystrophy
Narrow mouth, Thin skin, Abnormality of the dentition, Dermal atrophy, Calcinosis, Micrognathia ORPHA:90154
Epidermolysis Bullosa, Junctional, Herlitz Type
Enamel hypoplasia, Carious teeth, Atrophic scars, Congenital localized absence of skin, Milia OMIM:226700
Ehlers-Danlos Syndrome, Hypermobility Type
Soft skin, Osteoarthritis, Striae distensae, Hyperextensible skin OMIM:130020
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Yellow papule, Cutis laxa OMIM:610842
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Long philtrum, Dermal translucency, Thin skin, Webbed neck, Patent ductus arteriosus, Smooth phil... OMIM:617506
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Enlarged kidney, Increased muscle lipid content, High palate, Hydronephrosis, Poly... OMIM:608836
Severe Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Skin erosion, Hydroureter, Recurrent urinary tract infections, Duplicated coll... ORPHA:79404
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Malar rash, Nephritis, Arthritis OMIM:152700
Cardiac Valvular Dysplasia, X-Linked
Cutis laxa, Thick vermilion border OMIM:314400
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Atrophic scars, Myopathy, Hyperextensible skin, Skeletal muscle atrophy ORPHA:300179
15Q Overgrowth Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Abnormal renal morphology, U... ORPHA:314585
Trisomy 20P
Camptodactyly of finger, Thin vermilion border, Multiple renal cysts, Short philtrum, Downturned ... ORPHA:261318
Lenz-Majewski Hyperostotic Dwarfism
Abnormal dental enamel morphology, Facial hyperostosis, Abnormal penis morphology, Mandibular pro... ORPHA:2658
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Congenital megaureter, Aplasia of the left hemidiaphragm, Ab... ORPHA:2437
Acth-Independent Macronodular Adrenal Hyperplasia
Thin skin, Striae distensae, Skeletal muscle atrophy OMIM:219080
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology, Dermal atrophy, Aplasia/Hypoplasia of the skin, Papule, Myopat... ORPHA:257
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Downturned corners of mouth, Microretrognathia, Patent ductus arteriosus, Preauricular pit, Thin ... ORPHA:457193
Endove Syndrome, Limb-Brain Type
Neurogenic bladder, Recurrent urinary tract infections, Osteomyelitis, Hydronephrosis OMIM:619218
Complement Factor I Deficiency
Pyelonephritis, Recurrent otitis media, Recurrent sinusitis, Recurrent urinary tract infections, ... OMIM:610984
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Tarp Syndrome
Horseshoe kidney, Tongue nodules, Hydronephrosis, Glossoptosis, Cleft palate, High palate, Microg... OMIM:311900
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Esophagitis, Carious teeth, Abnormal dental enamel morpholog... ORPHA:2908
Anauxetic Dysplasia 3
Oligodontia, Retrognathia, Cutis laxa OMIM:618853
Cushing Syndrome Due To Ectopic Acth Secretion
Thin skin, Striae distensae, Skeletal muscle atrophy, Nephrolithiasis, Acne ORPHA:99889
Kaufman Oculocerebrofacial Syndrome
Carious teeth, Narrow mouth, Thin skin, Diastema, Smooth philtrum, Preauricular skin tag, Thin up... OMIM:244450
Mosaic Trisomy 8
Camptodactyly of finger, Arthrogryposis multiplex congenita, Hypopigmented skin patches, Vesicour... ORPHA:96061
Wiedemann-Rautenstrauch Syndrome
Delayed eruption of teeth, Narrow mouth, Long penis, Downturned corners of mouth, Premature skin ... OMIM:264090
9Q21.13 Microdeletion Syndrome
Abnormal tongue morphology, Hydronephrosis, Downturned corners of mouth ORPHA:531151
Webb-Dattani Syndrome
Neurogenic bladder, Retrognathia, Vesicoureteral reflux, Hydronephrosis OMIM:615926
Occipital Horn Syndrome
Ureteral obstruction, Long philtrum, Soft skin, Redundant skin, Hyperextensible skin, Bladder div... OMIM:304150
Barber-Say Syndrome
Delayed eruption of teeth, Redundant skin, Wide mouth, Hyperextensible skin, Aplasia/Hypoplasia o... ORPHA:1231
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Oligodontia, Abnormality of the dentition, Hydronephrosis, Hypoplasia ... ORPHA:2315
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Short philtrum, Contracture of the proximal interphalangeal joint of the 5th finger, Webbed neck,... OMIM:280000
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Esophagitis, Dermal translucency, Duplicated collecting system, Hyperextensible skin, Hydronephro... ORPHA:541423
Osteogenesis Imperfecta, Type Ii
Thin skin OMIM:166210
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Seborrheic dermatitis, Eczematoid dermatitis, Redundant skin, Patent ductus arteriosus, Erythema,... OMIM:259100
Ogden Syndrome
Facial wrinkling, Microretrognathia, Redundant skin, Deep philtrum, Cutis laxa, Thick upper lip v... OMIM:300855
Pseudoxanthoma Elasticum
Skin rash, Pruritus, Subcutaneous nodule, Hyperextensible skin, Striae distensae, High palate, La... ORPHA:758
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Long philtrum, Narrow mouth, Microretrognathia, Webbed neck, Cutis laxa, Hyperextensible skin, Co... OMIM:245600
C Syndrome
Long philtrum, Thin vermilion border, Horseshoe kidney, Redundant skin, Smooth philtrum, Sacral d... ORPHA:1308
Cutis Laxa, Autosomal Recessive, Type Ia
Redundant skin, Congenital diaphragmatic hernia, Bladder diverticulum OMIM:219100
Peroxisome Biogenesis Disorder 1A (Zellweger)
Macroglossia, Albuminuria, Micrognathia, High palate, Patent ductus arteriosus, Aminoaciduria, Pr... OMIM:214100
Classical-Like Ehlers-Danlos Syndrome Type 2
Narrow palate, Tooth malposition, Redundant skin, Periodontitis, Webbed neck, Long uvula, Hyperex... ORPHA:536532
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Lichen Planopilaris
Pruritus, Neoplasm of the oral cavity, Dermal atrophy, Hepatitis, Hypopigmented skin patches, Pap... ORPHA:525
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Long philtrum, Thin vermilion border, Open mouth, Patent ductus arteriosus, Bladder trabeculation... OMIM:614080
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Thin skin, Recurrent otitis media, Mandibular prognathia ORPHA:449291
Pigmented Nodular Adrenocortical Disease, Primary, 2
Thin skin, Striae distensae OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Thin skin, Striae distensae OMIM:610489
Arterial Tortuosity Syndrome
Esophagitis, Median cleft lip and palate, Thin skin, Redundant skin, Abnormality of the zygomatic... ORPHA:3342
3C Syndrome
Preauricular skin tag, Oral cleft, Cleft palate, Hydronephrosis, Hypoplasia of penis, Hypospadias... ORPHA:7
Cousin Syndrome
Camptodactyly, Microglossia, Hydronephrosis, Wrist flexion contracture, Joint contracture of the ... OMIM:260660
Acrofrontofacionasal Dysostosis 2
Hypospadias, High palate, Sacral dimple, Redundant neck skin OMIM:239710
Koolen-De Vries Syndrome
Narrow palate, Open mouth, High palate, Everted lower lip vermilion, Recurrent urinary tract infe... OMIM:610443
Vacterl/Vater Association
Renal agenesis, Non-midline cleft lip, Multicystic kidney dysplasia, Cleft palate, Abnormality of... ORPHA:887
Nijmegen Breakage Syndrome
Recurrent pneumonia, Bronchiectasis, Recurrent urinary tract infections, Cleft palate, Hydronephr... OMIM:251260
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal renal morphology, Smooth philtrum, Thin upper lip vermilion, Redundant neck skin, Hydron... ORPHA:1655
Alport Syndrome 3, Autosomal Dominant
Renal insufficiency, Hematuria, Glomerulonephritis, Glomerular basement membrane lamellation, Sta... OMIM:104200
Basel-Vanagaite-Smirin-Yosef Syndrome
Short philtrum, Mandibular prognathia, Everted lower lip vermilion, Male urethral meatus stenosis... ORPHA:464738
Mosaic Trisomy 9
Camptodactyly of finger, Multiple renal cysts, Horseshoe kidney, Webbed neck, Patent ductus arter... ORPHA:99776
Teebi-Shaltout Syndrome
Oligodontia, Horseshoe kidney, Narrow mouth, Camptodactyly, Wide mouth, Smooth philtrum, Hydronep... OMIM:272950
Al Amyloidosis
Macroglossia, Gastrointestinal hemorrhage, Dysphagia, Abnormality of the gastrointestinal tract, ... ORPHA:85443
Chime Syndrome
Short philtrum, Abnormality of dental morphology, Abnormality of the dentition, Thick vermilion b... ORPHA:3474
Granulomatosis With Polyangiitis
Prostatitis, Skin rash, Abnormal oral cavity morphology, Hematuria, Pericarditis, Increased infla... ORPHA:900
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Renal dysplasia, Vesicoureteral reflux, Hydronephrosis, Polycystic kid... ORPHA:2237
Spondylodysplastic Ehlers-Danlos Syndrome
Long philtrum, Soft skin, Narrow mouth, Thin skin, Atrophic scars, Long upper lip, Abnormality of... ORPHA:536471
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Hematuria, Glomerular basement membrane lamellation, Stage 5 chronic kidney ... OMIM:203780
Chromosome 17Q12 Deletion Syndrome
Abnormality of upper lip, Hypoplasia of the bladder, Renal hypoplasia, Mandibular prognathia, Rec... OMIM:614527
Weaver Syndrome
Long philtrum, Diastasis recti, Mandibular prognathia, Camptodactyly, Cutis laxa, Joint contractu... OMIM:277590
Kabuki Syndrome
Crossed fused renal ectopia, Abnormality of dental morphology, High palate, Duplicated collecting... ORPHA:2322
Fryns Syndrome
Long philtrum, High palate, Wide mouth, Non-midline cleft lip, Multicystic kidney dysplasia, Tent... ORPHA:2059
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Macroglossia, Everted lower lip vermilion, Flexion contracture, Recurrent urinary tract infection... ORPHA:847
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Narrow mouth, Smooth philtrum, Thick vermilion border, Protruding tongue, Hyd... OMIM:608779
Trichorhinophalangeal Syndrome, Type Ii
Scapular winging, Deep philtrum, Nevus, Vesicoureteral reflux, Redundant skin in infancy OMIM:150230
Wiedemann-Rautenstrauch Syndrome
Narrow mouth, Downturned corners of mouth, Dilatation of renal calices, Thin skin, Natal tooth, R... ORPHA:3455
Microphthalmia, Syndromic 9
Horseshoe kidney, Renal malrotation, Renal hypoplasia, Diaphragmatic eventration, Patent ductus a... OMIM:601186
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
Cerebellar-Facial-Dental Syndrome
Long philtrum, Taurodontia, Macrodontia of permanent maxillary central incisor, Ureteropelvic jun... ORPHA:444072
Thakker-Donnai Syndrome
Narrow mouth, Downturned corners of mouth, Webbed neck, Hydronephrosis, Congenital diaphragmatic ... ORPHA:1780
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Renal agenesis, Flexion contracture, Erythema, Hydronephrosis, Cleft upper lip, Renal hypoplasia/... OMIM:308050
Gapo Syndrome
Long philtrum, Delayed eruption of teeth, Mandibular prognathia, Everted lower lip vermilion, Abn... ORPHA:2067
Microcephaly 26, Primary, Autosomal Dominant
Long philtrum, Protruding tongue, Hydronephrosis, Gingival overgrowth, Recurrent pneumonia OMIM:619179
Lysinuric Protein Intolerance
Cutis laxa, Aminoaciduria, Hyperextensible skin, Pancreatitis, Stage 5 chronic kidney disease, Or... OMIM:222700
Thyrocerebroretinal Syndrome
Nephritis, Skeletal muscle atrophy OMIM:274240
X-Linked Dominant Chondrodysplasia Punctata
Scarring alopecia of scalp, Abnormality of the dentition, Erythema, Aplasia/Hypoplasia of the ski... ORPHA:35173
Superficial Epidermolytic Ichthyosis
Thin skin, Erythema ORPHA:455
Zellweger Syndrome
Abnormality of the tongue, High palate, Multicystic kidney dysplasia, Hydronephrosis, Hypospadias... ORPHA:912
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Long philtrum, Short philtrum, Downturned corners of mouth, Webbed neck, Camptodactyly, Flexion c... ORPHA:487796
Fechtner syndrome
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:153640
Thanatophoric Dysplasia Type 1
Patent ductus arteriosus, Redundant skin, Excessive wrinkled skin, Abnormality of the kidney ORPHA:1860
Aplasia Cutis Congenita
Facial palsy, Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized abs... ORPHA:1114
7Q11.23 Microduplication Syndrome
Thin vermilion border, Short philtrum, Drooling, High palate, Chronic otitis media, Unilateral re... ORPHA:96121
Vascular Ehlers-Danlos Syndrome
Thin vermilion border, Carious teeth, Cigarette-paper scars, Narrow mouth, Thin skin, Gingivitis,... ORPHA:286
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Macroglossia, Renal agenesis, Thick lower lip vermilion, Malar flattening, Protruding tongue, Hyd... OMIM:301040
Loeys-Dietz Syndrome
Camptodactyly of finger, Thin skin, Atypical scarring of skin, Patent ductus arteriosus, Oral cle... ORPHA:60030
Beckwith-Wiedemann Syndrome
Nevus flammeus, Macroglossia, Multiple renal cysts, Diastasis recti, Enlarged kidney, Congenital ... ORPHA:116
Williams-Beuren Syndrome
Open mouth, Cutis laxa, Recurrent urinary tract infections, Hypercalciuria, Vesicoureteral reflux... OMIM:194050
Cardiofaciocutaneous Syndrome 1
Open bite, Atopic dermatitis, Open mouth, Webbed neck, Deep philtrum, Abnormality of the dentitio... OMIM:115150
Aarskog-Scott Syndrome
Long philtrum, Delayed eruption of teeth, Camptodactyly of finger, Everted lower lip vermilion, A... ORPHA:915
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Eczematoid dermatitis, Cigarette-paper scars, Micrognathia, Hyperextensible skin OMIM:130090
Micro Syndrome
Short philtrum, Abnormal localization of kidney, Hydronephrosis, Hypoplasia of penis, High palate... ORPHA:2510
Otopalatodigital Syndrome Type 2
Ureteral obstruction, Oligodontia, Camptodactyly of finger, Narrow mouth, Pierre-Robin sequence, ... ORPHA:90652
Flynn-Aird Syndrome
Dermal atrophy, Carious teeth OMIM:136300
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Atypical scarring of skin, Lack of skin elasticity, Subcutaneous nodule, Aplasia/Hypoplasia of th... ORPHA:1366
Enamel-Renal Syndrome
Impaired renal concentrating ability, Delayed eruption of teeth, Abnormal dental enamel morpholog... ORPHA:1031
Feingold Syndrome Type 1
Nephritis, Horseshoe kidney, Patent ductus arteriosus, Renal dysplasia, Vesicoureteral reflux, Hy... ORPHA:391641
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Long philtrum, Patent ductus arteriosus, Smooth philtrum, Abnormality of the dentition, Sacral di... OMIM:300968
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Microglossia, Hydronephrosis, Cleft palate, Micrognathia, Thick anterior... ORPHA:2839
Apert Syndrome
Delayed eruption of teeth, Narrow palate, Mandibular prognathia, Chronic otitis media, Hydronephr... OMIM:101200
Plasminogen Deficiency, Type I
Nephritis, Periodontitis, Conjunctivitis, Gingival overgrowth, Gingivitis, Nephrolithiasis OMIM:217090
Osteogenesis Imperfecta
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Delayed eruption o... ORPHA:666
Robinow Syndrome, Autosomal Recessive 1
Nevus flammeus, Long philtrum, Macroglossia, Dental crowding, Malar flattening, Thin upper lip ve... OMIM:268310
15q26 overgrowth syndrome
Long philtrum, Camptodactyly of finger, Horseshoe kidney, Mandibular prognathia, High palate, Ves...