Dermatitis, Atopic |
|
Keratoconus, Cataract, Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Facial ery... |
OMIM:603165 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract, Hyperextensible skin |
ORPHA:35664 |
Keratoconus 9 |
|
Keratoconus, Decreased corneal thickness |
OMIM:617928 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Inguinal hernia, Flat cornea, Sclerocornea, Keratoglobus, Umbilical hernia, Decrease... |
OMIM:614170 |
Keratoconus 1 |
|
Keratoconus, Astigmatism |
OMIM:148300 |
Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Atypical scarring of skin, Keratoglobus, Abnormal cornea morphology, Decreased corne... |
OMIM:229200 |
Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Amyloidosis, Finnish Type |
|
Lattice corneal dystrophy, Cutis laxa |
OMIM:105120 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Inguinal hernia, Corneal dystrophy, Ectopia pupillae, Corneal guttata |
OMIM:609141 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity, Webbed neck |
OMIM:244600 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Elastoderma |
|
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa |
ORPHA:228240 |
Brittle Cornea Syndrome |
|
Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus, Hyperextensible skin, Decreas... |
ORPHA:90354 |
Leber Congenital Amaurosis 4 |
|
Keratoconus |
OMIM:604393 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Increased number of skin folds, Redundant skin, Cutis laxa |
ORPHA:436274 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract |
OMIM:204100 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract |
OMIM:204000 |
Leber Congenital Amaurosis |
|
Keratoconus, Cataract |
ORPHA:65 |
Elastosis Perforans Serpiginosa |
|
Crusting erythematous dermatitis, Cutis laxa |
ORPHA:79148 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract |
OMIM:613835 |
Retinitis Pigmentosa |
|
Keratoconus, Cataract, Atypical scarring of skin |
ORPHA:791 |
Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Cigarette-paper scars, Atrophic scars, Hyperextensible skin, Hernia, Soft, doughy skin, Soft skin |
OMIM:130010 |
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Redundant skin, Cutis laxa |
ORPHA:91135 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Inguinal hernia, Cataract, Cutis laxa, Corneal arcus, Hyperextensible skin, Thin skin, Umbilical ... |
OMIM:219150 |
Rahman Syndrome |
|
Astigmatism, Redundant skin, Camptodactyly |
OMIM:617537 |
Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Keratoglobus, Astigmatism, Distal arthrogryposis, Congenital finger flexion contract... |
OMIM:108145 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Eczema, Dry skin, Cutis laxa |
OMIM:612379 |
Granulomatous Slack Skin |
|
Erythema, Redundant skin, Cutis laxa |
ORPHA:33111 |
Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Cutis laxa, Developmental cataract, Hernia, Premature skin wrinkling, Dermal tra... |
OMIM:616603 |
Periodontal Ehlers-Danlos Syndrome |
|
Atrophic scars, Hyperextensible skin |
ORPHA:75392 |
Renal Hypodysplasia/Aplasia 2 |
|
Redundant skin |
OMIM:615721 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Microcornea, Atrophic scars, Hyperextensible skin, Hernia |
ORPHA:300179 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Lipodystrophy, Flexion contracture, Cutis laxa, Atypical scarring of skin, Atrophic scars, Hypere... |
ORPHA:75496 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Flexion contracture... |
OMIM:208050 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Inguinal hernia, Cataract, Developmental glaucoma, Flexion contracture, Elbow flexion contracture... |
OMIM:614438 |
Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Cutis laxa |
OMIM:614434 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Redundant skin |
OMIM:301021 |
Geroderma Osteodysplastica |
|
Redundant skin, Microcornea, Hyperextensible skin, Thin skin, Hernia |
ORPHA:2078 |
Vernal Keratoconjunctivitis |
|
Scarring, Pruritus, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate keratit... |
ORPHA:70476 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia, Cutis laxa |
OMIM:614100 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Macular scar |
OMIM:608553 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Decreased corneal thickness |
ORPHA:293967 |
Warburg-Cinotti Syndrome |
|
Symblepharon, Ankle flexion contracture, Erythema, Elbow flexion contracture, Limbal stem cell de... |
OMIM:618175 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Hyperextensible skin |
OMIM:619764 |
Fibrinolytic Defect |
|
Hyperextensible skin |
OMIM:134900 |
X-Linked Ehlers-Danlos Syndrome |
|
Inguinal hernia, Hyperextensible skin, Thin skin, Hernia, Umbilical hernia |
ORPHA:75497 |
Axenfeld-Rieger Syndrome |
|
Aplasia/Hypoplasia of the iris, Posterior embryotoxon, Abnormal anterior chamber morphology, Redu... |
ORPHA:782 |
Microtriplication 11Q24.1 |
|
Keratoconus |
ORPHA:289522 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Agel Amyloidosis |
|
Cataract, Pruritus, Dry skin, Cutis laxa, Keratoconjunctivitis sicca, Lattice corneal dystrophy, ... |
ORPHA:85448 |
Dysmorphism-Cleft Palate-Loose Skin Syndrome |
|
Redundant skin |
ORPHA:1779 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Redundant skin, Cutis laxa, Umbilical hernia, S... |
ORPHA:2963 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Keratoconus |
OMIM:609438 |
Alg8-Cdg |
|
Cataract, Abnormality of subcutaneous fat tissue, Cutis laxa, Camptodactyly, Premature skin wrink... |
ORPHA:79325 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Cutis Laxa-Marfanoid Syndrome |
|
Flexion contracture, Redundant skin, Congenital diaphragmatic hernia |
ORPHA:171719 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hyperextensible skin |
OMIM:615937 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Cutis laxa |
OMIM:301045 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Striae distensae, Atypical scarring of skin, Hyperextensible skin, Thin skin, Petechiae |
OMIM:225310 |
Costello Syndrome |
|
Keratoconus, Abnormal dental enamel morphology, Redundant skin, Lack of skin elasticity |
ORPHA:3071 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Conjunctivitis, Erythroderma |
OMIM:242150 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Inguinal hernia, Cutis laxa |
OMIM:619451 |
6P22 Microdeletion Syndrome |
|
Redundant skin, Hernia |
ORPHA:251046 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Eczema, Cutis laxa |
OMIM:619691 |
De Barsy Syndrome |
|
Inguinal hernia, Cataract, Corneal opacity, Lipodystrophy, Cutis laxa, Excessive wrinkled skin, T... |
ORPHA:2962 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Atypical scarring of skin, Cataract, Lack of skin elasticity |
ORPHA:1366 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Corneal erosion, Cutis laxa |
OMIM:270420 |
Rafiq Syndrome |
|
Flexion contracture, Cutis laxa |
OMIM:614202 |
Weaver Syndrome |
|
Camptodactyly of finger, Inguinal hernia, Redundant skin |
ORPHA:3447 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus |
ORPHA:401777 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Keratoconus, Inguinal hernia, Microcornea, Excessive wrinkled skin, Hyperextensible skin, Thin sk... |
OMIM:225400 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Pruritus |
ORPHA:411777 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Inguinal hernia, Lipodystrophy, Redundant skin, Cutis laxa, Excessive wrinkled skin |
OMIM:219200 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Dry skin, Scaling skin, Cutis laxa |
ORPHA:2269 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Inguinal hernia, Femoral hernia, Redundant skin, Hiatus hernia, Keratoglobus, Hypere... |
ORPHA:3342 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus |
ORPHA:542306 |
Arthrochalasia Ehlers-Danlos Syndrome |
|
Inguinal hernia, Femoral hernia, Scarring, Abnormality of subcutaneous fat tissue, Hyperextensibl... |
ORPHA:1899 |
Immunodeficiency 49 |
|
Umbilical hernia, Psoriasiform dermatitis, Cutis laxa |
OMIM:617237 |
Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Atypical scarring of skin, Umbilical hernia, Inguinal hernia, Hyperextensible skin |
OMIM:617174 |
Gapo Syndrome |
|
Keratoconus, Umbilical hernia, Hyperextensible skin |
ORPHA:2067 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Ventral hernia, Inguinal hernia, Redundant skin, Webbed neck, Atypical scarring of skin, Atrophic... |
OMIM:618000 |
Scarf Syndrome |
|
Inguinal hernia, Cutis laxa, Webbed neck, Umbilical hernia, Enamel hypoplasia, Hypocalcification ... |
ORPHA:3134 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Inguinal hernia, Redundant neck skin, Lipodystrophy, Redundant skin, Abnormal subcutaneous fat ti... |
ORPHA:357074 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Inguinal hernia, Atrophic scars, Hyperextensible skin, Thin skin, Soft skin |
OMIM:225320 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Inguinal hernia, Cutis laxa, Microcornea, Atrophic scars, Hyperextensible skin, Soft skin, Umbili... |
OMIM:614557 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Soft skin, Hyperextensible skin, Striae distensae |
OMIM:130020 |
Cardiac Valvular Dysplasia, X-Linked |
|
Cutis laxa |
OMIM:314400 |
Macs Syndrome |
|
Redundant skin, Cutis laxa, Hyperextensible skin, Soft skin, Umbilical hernia |
OMIM:613075 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Corneal opacity, Redundant skin, Camptodactyly of finger, Corneal erosion, Excessive... |
ORPHA:920 |
Gapo Syndrome |
|
Keratoconus, Redundant skin, Shallow anterior chamber, Umbilical hernia, Megalocornea |
OMIM:230740 |
Man1B1-Cdg |
|
Cutis laxa |
ORPHA:397941 |
Autosomal Dominant Cutis Laxa |
|
Inguinal hernia, Redundant neck skin, Corneal opacity, Redundant skin, Developmental cataract, Cu... |
ORPHA:90348 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Cutis laxa, Atrophic scars, Hyperextensible skin, Soft skin, Joint contracture, Dermal translucency |
OMIM:615349 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Cutis laxa |
OMIM:610842 |
Alagille Syndrome |
|
Keratoconus, Abnormal pupil morphology, Corneal dystrophy |
ORPHA:52 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Soft, doughy skin, Multiple joint contractures, Corneal opacity, Inguinal hernia, Posterior subca... |
ORPHA:536471 |
Nail-Patella Syndrome |
|
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign |
OMIM:161200 |
Spondylo-Ocular Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens, Hyperextensible skin, Webbed neck, Iris hypopigmentation |
ORPHA:85194 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Blepharonasofacial Malformation Syndrome |
|
Inguinal hernia, Redundant skin |
ORPHA:1252 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Inguinal hernia, Congenital diaphragmatic hernia, Developmental glaucoma, Elbow flexion contractu... |
OMIM:245600 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Inguinal hernia, Widened atrophic scar, Redundant skin, Keratoconjunctivitis sicc... |
ORPHA:536532 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Inguinal hernia, Recurrent skin infections, Redundant skin, Atrophic scars, Astigmatism, Hyperext... |
ORPHA:2953 |
Neonatal Marfan Syndrome |
|
Iridodonesis, Lipoatrophy, Ectopia lentis, Flexion contracture, Cutis laxa, Megalocornea |
ORPHA:284979 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Inguinal hernia, Redundant skin, Congenital diaphragmatic hernia, Cutis laxa, Umbilical hernia |
OMIM:219100 |
Rin2 Syndrome |
|
Umbilical hernia, Hyperextensible skin, Redundant skin |
ORPHA:217335 |
Scarf Syndrome |
|
Inguinal hernia, Cutis laxa, Webbed neck, Umbilical hernia, Enamel hypoplasia |
OMIM:312830 |
Short Syndrome |
|
Posterior embryotoxon, Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Lipod... |
ORPHA:3163 |
Angelman Syndrome |
|
Keratoconus, Astigmatism, Iris hypopigmentation |
ORPHA:72 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Excessive wrinkled skin, Inguinal hernia, Redundant skin, Lack of skin elasticity |
OMIM:612940 |
Menkes Disease |
|
Cutis laxa |
OMIM:309400 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hyperextensible skin, Flexion contracture, Thin skin |
ORPHA:157965 |
Craniofaciofrontodigital Syndrome |
|
Palmoplantar cutis laxa, Premature skin wrinkling, Hernia, Cutis laxa |
ORPHA:363705 |
Ogden Syndrome |
|
Inguinal hernia, Cutis laxa |
ORPHA:276432 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Cataract, Redundant skin, Cutis laxa, Campt... |
OMIM:617403 |
Cranioectodermal Dysplasia 4 |
|
Cutis laxa |
OMIM:614378 |
Focal Facial Dermal Dysplasia Type Iii |
|
Redundant skin |
ORPHA:1807 |
Thanatophoric Dysplasia |
|
Redundant skin |
ORPHA:2655 |
Classic Phenylketonuria |
|
Cataract, Eczema, Lack of skin elasticity |
ORPHA:79254 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Inguinal hernia, Redundant skin, Atrophic scars, Hyperextensible skin, Soft, doughy skin, Umbilic... |
OMIM:225410 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Inguinal hernia, Cataract, Redundant skin, Lack of skin elasticity, Cutis laxa, Hernia |
ORPHA:90349 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Ankle flexion ... |
ORPHA:536516 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Thanatophoric Dysplasia Type 2 |
|
Redundant skin |
ORPHA:93274 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Atrophic scars, Hyperextensi... |
OMIM:130060 |
Anauxetic Dysplasia 3 |
|
Cutis laxa |
OMIM:618853 |
Aarskog-Scott Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Hyperextensible skin, Umbilical hernia, Megalocornea |
ORPHA:915 |
Geroderma Osteodysplasticum |
|
Premature skin wrinkling, Neonatal wrinkled skin of hands and feet, Camptodactyly, Cutis laxa |
OMIM:231070 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Inguinal hernia, Corneal opacity, Excessive wrinkled skin, Abnormal cornea morphology, Hyperexten... |
ORPHA:357058 |
Cutis Laxa, Autosomal Dominant 1 |
|
Inguinal hernia, Redundant skin, Cutis laxa, Hyperextensible skin, Uterine prolapse |
OMIM:123700 |
Bohring-Opitz Syndrome |
|
Flexion contracture, Camptodactyly, Cutis laxa |
OMIM:605039 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Inguinal hernia, Ectopia lentis, Cigarette-paper scars, Hyperextensible skin, Soft skin, Umbilica... |
OMIM:130000 |
Coffin-Lowry Syndrome |
|
Cataract, Redundant skin |
ORPHA:192 |
Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Inguinal hernia, Genital hernia, Cystocele, Atypical scarring of skin, Keratoconjunc... |
ORPHA:285 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Eczematoid dermatitis, Erythema, Redundant skin, Seborrheic dermatitis |
OMIM:259100 |
Macular Degeneration, Age-Related, 3 |
|
Hyperextensible skin |
OMIM:608895 |
Macrocephaly/Autism Syndrome |
|
Cutis laxa |
OMIM:605309 |
C Syndrome |
|
Omphalocele, Cutis laxa |
OMIM:211750 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Camptodactyly of finger, Cigarette-paper scars, Hyperextensible skin, Thin skin, Webbed neck, Joi... |
OMIM:612350 |
Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin, Peters anomaly |
OMIM:618652 |
Weaver Syndrome |
|
Inguinal hernia, Cutis laxa, Camptodactyly, Umbilical hernia, Joint contracture of the hand |
OMIM:277590 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Cutis laxa |
OMIM:614800 |
Thanatophoric Dysplasia Type 1 |
|
Excessive wrinkled skin, Redundant skin |
ORPHA:1860 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microcornea, Umbilical hernia, Inguinal hernia, Increased number of skin folds |
ORPHA:2505 |
Acral Self-Healing Collodion Baby |
|
Palmoplantar scaling skin, Erythema, Lack of skin elasticity |
ORPHA:281127 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Umbilical hernia, Cataract, Thin skin, Cutis laxa |
OMIM:266920 |
Noonan Syndrome 8 |
|
Palmoplantar cutis laxa, Hyperextensible skin, Eczema, Webbed neck |
OMIM:615355 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Inguinal hernia, Abnormality of subcutaneous fat tissue, Femoral hernia, Scarring, Hiatus hernia,... |
ORPHA:1901 |
Cardiofaciocutaneous Syndrome |
|
Redundant skin, Excessive wrinkled skin, Hyperextensible skin, Webbed neck, Dry skin |
ORPHA:1340 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Inguinal hernia, Hiatus hernia, Atrophic scars, Hyperextensible skin, Thin skin, Palmoplantar cut... |
OMIM:130080 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Inguinal hernia, Myopic astigmatism, Atrophic scars, Hyperextensible skin, Thin skin, Soft, dough... |
ORPHA:230851 |
Trichorhinophalangeal Syndrome Type 2 |
|
Redundant skin |
ORPHA:502 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Inguinal hernia, Redundant skin, Morgagni diaphragmatic hern... |
OMIM:613177 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Inguinal hernia, Elbow flexion contracture, Knee flexion contracture, Cutis laxa, Thin skin, Enam... |
OMIM:151050 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Increased connective tissue, Hiatus hernia, Atrophic scars, Hyperextensible skin, Soft skin, Stri... |
OMIM:606408 |
Ledderhose Disease |
|
Lack of skin elasticity |
ORPHA:199251 |
X-Linked Creatine Transporter Deficiency |
|
Redundant skin |
ORPHA:52503 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Hyperextensible skin, Thin skin |
ORPHA:230839 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Palmoplantar cutis laxa, Redundant skin |
OMIM:616482 |
Pseudoxanthoma Elasticum |
|
Acne, Skin rash, Pruritus, Lack of skin elasticity, Excessive wrinkled skin, Multiple lipomas, Hy... |
ORPHA:758 |
Combined Oxidative Phosphorylation Deficiency 2 |
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Redundant neck skin |
OMIM:610498 |
Cardiofaciocutaneous Syndrome 4 |
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Cataract, Hyperextensible skin |
OMIM:615280 |
Ogden Syndrome |
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Inguinal hernia, Redundant neck skin, Eczema, Redundant skin, Facial wrinkling, Cutis laxa, Minim... |
OMIM:300855 |
Lacrimoauriculodentodigital Syndrome |
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Increased corneal thickness, Abnormal dental enamel morphology, Keratoconjunctivitis, Keratoconju... |
ORPHA:2363 |
Huriez Syndrome |
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Dry skin, Lack of skin elasticity |
ORPHA:384 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
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Redundant neck skin |
OMIM:619003 |
Pseudoxanthoma Elasticum |
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Cutis laxa |
OMIM:264800 |
Cranioectodermal Dysplasia 3 |
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Dry skin, Cutis laxa |
OMIM:614099 |
Alg12-Cdg |
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Abnormal adipose tissue morphology, Redundant skin, Camptodactyly |
ORPHA:79324 |
Loeys-Dietz Syndrome 4 |
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Inguinal hernia, Flat cornea, Hyperextensible skin, Striae distensae |
OMIM:614816 |
Barber-Say Syndrome |
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Hyperextensible skin, Redundant skin |
ORPHA:1231 |
Kleefstra Syndrome Due To A Point Mutation |
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Umbilical hernia, Inguinal hernia, Hyperextensible skin, Developmental cataract |
ORPHA:261652 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
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Redundant neck skin, Arthrogryposis multiplex congenita, Astigmatism, Corneal opacity |
OMIM:301056 |
Lamellar Ichthyosis |
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Pruritus, Dry skin, Lack of skin elasticity, Erythroderma |
ORPHA:313 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
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Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Flexion contracture, Lack of ski... |
ORPHA:1979 |
Ehlers-Danlos Syndrome, Vascular Type |
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Keratoconus, Inguinal hernia, Cigarette-paper scars, Cystocele, Hyperextensible skin, Uterine pro... |
OMIM:130050 |
Osteogenesis Imperfecta |
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Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Flexion contracture, Cutis l... |
ORPHA:666 |
Barber-Say Syndrome |
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Lipodystrophy, Redundant skin, Premature skin wrinkling, Dry skin, Dermal translucency |
OMIM:209885 |
Antisynthetase Syndrome |
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Pruritus, Keratoconjunctivitis sicca, Skin rash, Lack of skin elasticity |
ORPHA:81 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Inguinal hernia, Congenital diaphragmatic hernia, Cutis laxa, Soft skin, Dermal translucency |
OMIM:614437 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Cataract, Flexion contracture, Lack of skin elasticity, Thin skin |
ORPHA:90153 |
Noonan Syndrome 10 |
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Palmoplantar cutis laxa, Hyperextensible skin, Prominent corneal nerve fibers, Webbed neck |
OMIM:616564 |
Recombinant 8 Syndrome |
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Camptodactyly of finger, Redundant skin |
ORPHA:96167 |
Specific Granule Deficiency 2 |
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Hyperextensible skin, Amelogenesis imperfecta |
OMIM:617475 |
Emanuel Syndrome |
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Inguinal hernia, Redundant neck skin, Multiple joint contractures, Congenital diaphragmatic herni... |
ORPHA:96170 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
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Inguinal hernia, Hyperextensible skin, Dermal translucency |
OMIM:619115 |
Trichorhinophalangeal Syndrome, Type Ii |
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Inguinal hernia, Redundant skin in infancy, Cutis laxa, Astigmatism, Dry skin |
OMIM:150230 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
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Loss of subcutaneous adipose tissue in limbs, Joint contracture, Lipodystrophy, Lack of skin elas... |
OMIM:615381 |
Immunodeficiency 47 |
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Cutis laxa |
OMIM:300972 |
Lysinuric Protein Intolerance |
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Hyperextensible skin, Cutis laxa |
OMIM:222700 |
B4Galt1-Cdg |
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Inflammatory abnormality of the skin, Redundant neck skin |
ORPHA:79332 |
Ablepharon-Macrostomia Syndrome |
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Ventral hernia, Omphalocele, Redundant skin, Thin skin, Camptodactyly, Premature skin wrinkling, ... |
OMIM:200110 |
Weill-Marchesani Syndrome 2 |
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Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Elbow flexion contractu... |
OMIM:608328 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Reduced subcutaneous adipose tissue, Hip contracture, Inguinal hernia, Erythema, Flexion contract... |
OMIM:619503 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
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Inguinal hernia, Widened atrophic scar, Elbow flexion contracture, Microcornea, Atypical scarring... |
ORPHA:1900 |
Bone Dysplasia, Lethal Holmgren Type |
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Redundant neck skin, Hernia |
ORPHA:1842 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
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Redundant neck skin |
OMIM:617967 |
Wrinkly Skin Syndrome |
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Inguinal hernia, Lipodystrophy, Excessive skin wrinkling on dorsum of hands and fingers, Cutis la... |
ORPHA:2834 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
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Hyperextensible skin, Dermal translucency |
OMIM:619120 |
Vascular Ehlers-Danlos Syndrome |
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Keratoconus, Inguinal hernia, Redundant skin, Abnormal pupil morphology, Cigarette-paper scars, C... |
ORPHA:286 |
Cranioectodermal Dysplasia 2 |
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Inguinal hernia, Cutis laxa |
OMIM:613610 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Omphalocele, Redundant neck skin, Interphalangeal joint contracture of finger, Flexion contractur... |
ORPHA:96334 |
Diastrophic Dysplasia |
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Hyperextensible skin, Camptodactyly of finger |
ORPHA:628 |
Occipital Horn Syndrome |
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Soft skin, Hyperextensible skin, Redundant skin, Hiatus hernia |
OMIM:304150 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
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Inguinal hernia, Eczema, Astigmatism, Hyperextensible skin, Webbed neck |
OMIM:607721 |
Cutis Laxa, Autosomal Recessive, Type Iic |
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Knee flexion contracture, Reduced subcutaneous adipose tissue, Camptodactyly, Cutis laxa |
OMIM:617402 |
Carpenter Syndrome 2 |
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Knee flexion contracture, Cutis laxa, Webbed neck, Umbilical hernia, Camptodactyly |
OMIM:614976 |
Papillorenal Syndrome |
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Soft skin, Cataract, Hyperextensible skin, Lens luxation |
OMIM:120330 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Multiple joint contractures, Microcornea, Atrophic scars, Hyperextensible skin, Thin skin, Soft, ... |
ORPHA:536467 |
Combined Oxidative Phosphorylation Deficiency 5 |
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Redundant neck skin |
OMIM:611719 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
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Arthrogryposis multiplex congenita, Redundant neck skin |
OMIM:236500 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Recurrent skin infections, Scarring, Hiatus hernia, Microcornea, Atrophic scars, Hyperextensible ... |
OMIM:601776 |
Congenital Tracheomalacia |
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Cutis laxa |
ORPHA:95430 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
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Inguinal hernia, Microcornea, Atypical scarring of skin, Hyperextensible skin, Thin skin, Soft, d... |
ORPHA:536545 |
Williams-Beuren Syndrome |
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Inguinal hernia, Flexion contracture, Blue irides, Cutis laxa, Soft skin, Umbilical hernia |
OMIM:194050 |
Lenz-Majewski Hyperostotic Dwarfism |
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Inguinal hernia, Abnormal dental enamel morphology, Femoral hernia, Redundant skin |
ORPHA:2658 |
Williams Syndrome |
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Inguinal hernia, Flat cornea, Corneal opacity, Cataract, Redundant skin, Abnormal dental enamel m... |
ORPHA:904 |
Frank-Ter Haar Syndrome |
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Redundant neck skin, Acne, Developmental glaucoma, Buphthalmos, Camptodactyly, Megalocornea |
OMIM:249420 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Brushfield spots, Cataract, Redundant neck skin, Opacification of the corneal stroma |
OMIM:214100 |
Fontaine Progeroid Syndrome |
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Reduced subcutaneous adipose tissue, Redundant skin, Umbilical hernia, Premature skin wrinkling, ... |
OMIM:612289 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
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Soft skin, Atrophic scars, Hyperextensible skin |
OMIM:617821 |
Pelviscapular Dysplasia |
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Redundant neck skin, Elbow flexion contracture |
ORPHA:93333 |
Fountain Syndrome |
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Erythema, Hyperextensible skin |
ORPHA:3219 |
Zaki Syndrome |
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Hyperextensible skin, Congenital diaphragmatic hernia |
OMIM:619648 |
Coffin-Lowry Syndrome |
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Uterine prolapse, Inguinal hernia, Cutis laxa |
OMIM:303600 |
Kosaki Overgrowth Syndrome |
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Hyperextensible skin, Thin skin |
OMIM:616592 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
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Omphalocele, Inguinal hernia, Redundant neck skin, Flexion contracture, Camptodactyly, Umbilical ... |
ORPHA:254528 |
Viss Syndrome |
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Inguinal hernia, Eczema, Atopic dermatitis, Cutis laxa, Hyperextensible skin, Umbilical hernia, C... |
OMIM:619472 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
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Hyperextensible skin |
ORPHA:1185 |
Fibromuscular Dysplasia, Multifocal |
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Soft skin, Hiatus hernia, Atrophic scars, Hyperextensible skin, Soft, doughy skin, Striae distens... |
OMIM:619329 |
Acromesomelic Dysplasia 1 |
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Redundant skin on fingers |
OMIM:602875 |
Acrofrontofacionasal Dysostosis 2 |
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Redundant neck skin |
OMIM:239710 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
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Redundant neck skin, Camptodactyly |
OMIM:617360 |
Classical Ehlers-Danlos Syndrome |
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Uterine prolapse, Inguinal hernia, Hiatus hernia, Incisional hernia, Cigarette-paper scars, Abnor... |
ORPHA:287 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
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Soft, doughy skin, Hyperextensible skin, Dermal translucency |
ORPHA:541423 |
Tetrasomy 5P |
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Pericallosal lipoma, Redundant neck skin |
ORPHA:3309 |
Wrinkly Skin Syndrome |
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Inguinal hernia, Redundant skin, Neonatal wrinkled skin of hands and feet, Palmoplantar cutis lax... |
OMIM:278250 |
Beckwith-Wiedemann Syndrome |
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Omphalocele, Inguinal hernia, Redundant skin, Congenital diaphragmatic hernia, Umbilical hernia |
ORPHA:116 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
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Inguinal hernia, Hyperextensible skin, Minimal subcutaneous fat, Camptodactyly, Umbilical hernia,... |
OMIM:182212 |
C Syndrome |
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Omphalocele, Redundant skin, Congenital diaphragmatic hernia |
ORPHA:1308 |
Noonan Syndrome With Multiple Lentigines |
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Excessive wrinkled skin, Hyperextensible skin, Webbed neck |
ORPHA:500 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
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Redundant neck skin, Hernia |
OMIM:217980 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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Inguinal hernia, Redundant neck skin |
OMIM:235255 |
Mend Syndrome |
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Redundant neck skin, Anterior polar cataract, Cataract |
OMIM:300960 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Redundant neck skin, Astigmatism, Eczema, Soft skin |
OMIM:617157 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Redundant skin |
OMIM:250220 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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Soft, doughy skin, Hyperextensible skin, Flexion contracture, Ectopia lentis |
OMIM:271640 |
Menkes Disease |
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Inguinal hernia, Atypical scarring of skin, Hyperextensible skin, Hernia, Umbilical hernia, Dry s... |
ORPHA:565 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Ecchymosis, Hyperextensible skin, Corneal opacity, Skin ulcer |
ORPHA:2072 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
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Redundant neck skin |
ORPHA:2519 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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Inguinal hernia, Redundant neck skin |
ORPHA:1655 |
Shprintzen-Goldberg Syndrome |
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Umbilical hernia, Inguinal hernia, Hyperextensible skin, Camptodactyly of finger |
ORPHA:2462 |
Chromosome 18P Deletion Syndrome |
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Redundant neck skin |
OMIM:146390 |
Noonan Syndrome 2 |
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Palmoplantar cutis laxa, Arthrogryposis multiplex congenita, Hyperextensible skin |
OMIM:605275 |
Okamoto Syndrome |
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Redundant neck skin, Astigmatism, Omphalocele, Webbed neck |
ORPHA:2729 |
Beare-Stevenson Cutis Gyrata Syndrome |
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Palmoplantar cutis laxa, Redundant neck skin |
OMIM:123790 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
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Hyperextensible skin |
ORPHA:555877 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Hyperextensible skin, Iris coloboma |
ORPHA:508498 |
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
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Redundant neck skin |
OMIM:604314 |
Gabriele-De Vries Syndrome |
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Astigmatism, Hyperextensible skin, Distal arthrogryposis |
ORPHA:506358 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Redundant neck skin |
ORPHA:397715 |
Occipital Horn Syndrome |
|
Inguinal hernia, Femoral hernia, Scarring, Hiatus hernia, Atypical scarring of skin, Hyperextensi... |
ORPHA:198 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Reduced subcutaneous adipose tissue, Excessive wrinkled skin, Hyperextensible skin |
OMIM:619950 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
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Umbilical hernia, Redundant neck skin |
OMIM:618164 |
Down Syndrome |
|
Brushfield spots, Redundant neck skin |
OMIM:190685 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Cataract, Sclerocornea |
ORPHA:3472 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Hyperextensible skin, Conjunctivitis, Recurrent corneal erosions, Corneal perforation, Enamel hyp... |
OMIM:149730 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Atrophic scars, Hyperextensible skin, Flexion contracture |
OMIM:130070 |
Zttk Syndrome |
|
Hyperextensible skin, Flexion contracture |
OMIM:617140 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Hyperextensible skin |
ORPHA:1974 |
Costello Syndrome |
|
Achilles tendon contracture, Redundant neck skin, Webbed neck |
OMIM:218040 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hyperextensible skin |
ORPHA:508 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Cataract, Sclerocornea |
OMIM:216340 |