| Pruritus, Hereditary Localized |
|
Pruritus |
OMIM:177100 |
| Dermatitis Herpetiformis, Familial |
|
Pruritus |
OMIM:601230 |
| Digital Clubbing, Isolated Congenital |
|
Clubbing |
OMIM:119900 |
| Split-Hand/Foot Malformation 2 |
|
Split hand, Finger syndactyly, Short metacarpal, Short phalanx of finger, Split foot |
OMIM:313350 |
| Ectrodactyly-Polydactyly |
|
Split hand, Postaxial hand polydactyly, Split foot |
OMIM:225290 |
| Tendons, Extensor, Of Fingers, Anomalous Insertion Of |
|
Abnormality of finger |
OMIM:187390 |
| Trigger Thumb |
|
Abnormal thumb morphology |
OMIM:190410 |
| Triphalangeal Thumbs With Brachyectrodactyly |
|
Triphalangeal thumb, Split hand, Short 3rd toe, Short 2nd finger, Brachydactyly, Split foot |
OMIM:190680 |
| Split-Hand And Split-Foot With Hypodontia |
|
Split hand, Split foot |
OMIM:183500 |
| Postaxial Tetramelic Oligodactyly |
|
Oligodactyly, Ectrodactyly, Abnormality of the metacarpal bones, Abnormality of finger |
ORPHA:2730 |
| Ring Chromosome 4 Syndrome |
|
Abnormality of the upper limb, Abnormality of the ulna, Split hand, Aplasia/Hypoplasia of the radius |
ORPHA:1447 |
| Ectrodactyly-Polydactyly Syndrome |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... |
ORPHA:1892 |
| Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of the phalanges of the toes, Triphalangeal thumb, Aplasia/Hypoplasia of metat... |
OMIM:605289 |
| Tetramelic Monodactyly |
|
Foot monodactyly, Hand monodactyly, Split foot, Split hand |
OMIM:187510 |
| Split-Hand/Foot Malformation 6 |
|
Toe syndactyly, Hand oligodactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot |
OMIM:225300 |
| Limb Defects, Distal Transverse, With Mental Retardation And Spasticity |
|
Split hand |
OMIM:246555 |
| Bifid Nose, Autosomal Recessive |
|
Bifid nose, Midline defect of the nose |
OMIM:210400 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Talipes equinovarus, Split hand, Oligodactyly, Ectrodactyly, Brachydactyly |
OMIM:612576 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... |
ORPHA:1986 |
| Tetramelic Monodactyly |
|
Oligodactyly, Split hand |
ORPHA:2564 |
| Ulnar Hypoplasia-Split Foot Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split hand, Split foot |
ORPHA:1122 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Abnormality of the ulna, Aplasia/Hypoplasia of the fibula, Split hand |
ORPHA:1118 |
| Ectrodactyly-Cleft Palate Syndrome |
|
Split hand |
OMIM:129830 |
| Lichen Amyloidosis |
|
Pruritus |
ORPHA:49804 |
| Thiemann Disease |
|
Short phalanx of finger, Broad phalanx |
OMIM:165700 |
| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Erythematous plaque, Pruritis on abd... |
ORPHA:64745 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Hypoplasia of the ulna, Syndactyly, Split foot, Short finger |
OMIM:314360 |
| Brachydactyly, Type A1, D |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short distal phalanx of the 2nd finge... |
OMIM:616849 |
| Split-Hand/Foot Malformation 1 |
|
Hand oligodactyly, Triphalangeal thumb, Clinodactyly, Split hand, Syndactyly, Broad hallux, Foot ... |
OMIM:183600 |
| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate |
|
Split foot, Split hand |
OMIM:129810 |
| Anonychia-Ectrodactyly |
|
Aplasia of metacarpal bones, Split hand |
OMIM:106900 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
| Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... |
OMIM:606719 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Microdontia, Sparse and thin eyebrow, Tooth malposition, Alopecia, Abnormality of dental morpholo... |
ORPHA:2722 |
| Darier Disease |
|
Plantar pits, Macule, Pruritus, Subungual hyperkeratotic fragments, Palmoplantar keratoderma, Acr... |
ORPHA:218 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Split foot, Split hand |
OMIM:183700 |
| Sugarman Brachydactyly |
|
Double first metacarpals, Proximal placement of hallux, Short proximal phalanx of finger, Symphal... |
OMIM:272150 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Hyperkeratotic papule, Carious teeth, Keloids, Erythematous papule, Atrophic scars, Pruritus, Ski... |
ORPHA:79410 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... |
OMIM:113310 |
| Ectodermal Dysplasia 8, Hair/Tooth/Nail Type |
|
Irregular dentition, Dystrophic fingernails, Dystrophic toenail, Abnormality of dental morphology... |
OMIM:602401 |
| Femur-Fibula-Ulna Complex |
|
Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... |
ORPHA:2019 |
| Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Erythroderma, Acantholysis, Erythematous plaque, Pustule, Annular cutane... |
ORPHA:79481 |
| Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
| Banki Syndrome |
|
Radial deviation of finger, Clinodactyly |
OMIM:109300 |
| Cooks Syndrome |
|
Broad thumb, Triphalangeal thumb, Brachydactyly, Split hand |
ORPHA:1487 |
| Epidermolysis Bullosa, Junctional, Non-Herlitz Type |
|
Carious teeth, Hypodontia, Nail dystrophy, Fragile nails, Nail dysplasia, Camptodactyly of finger... |
OMIM:226650 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short distal phalanx of finger... |
ORPHA:1113 |
| Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
| Lichen Planus Pemphigoides |
|
Abnormal oral mucosa morphology, Pruritus, Hyperkeratosis, Skin vesicle |
ORPHA:254478 |
| Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split hand, Split foot |
DECIPHER:46 |
| Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Basal cell carcinoma, Squamous cell carcinoma |
OMIM:618267 |
| Esophageal Cancer |
|
Esophageal carcinoma |
OMIM:133239 |
| Familial Digital Arthropathy-Brachydactyly |
|
Short middle phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... |
ORPHA:85169 |
| Brachydactyly, Type A3 |
|
Cone-shaped epiphysis, Rhomboid or triangular shaped 5th finger middle phalanx, Short middle phal... |
OMIM:112700 |
| Syndactyly Type 1 |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly |
ORPHA:93402 |
| Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Hand monodactyly, Split foot, Split hand |
OMIM:183800 |
| Candidiasis, Familial, 1 |
|
Chronic mucocutaneous candidiasis, Premature loss of teeth, Alopecia |
OMIM:114580 |
| Brachydactyly, Type A1, C |
|
Short middle phalanx of the 3rd finger, Short middle phalanx of the 4th finger, Short middle phal... |
OMIM:615072 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... |
OMIM:610713 |
| Parc Syndrome |
|
Cleft palate, Alopecia, Absent eyebrow, Absent eyelashes, Microretrognathia |
OMIM:600331 |
| Nut Midline Carcinoma |
|
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom... |
ORPHA:443167 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Fine hair, Hypodontia, Abnormal fingernail morphology, Delayed eruption of teeth, Conical tooth, ... |
ORPHA:2228 |
| Anonychia-Microcephaly Syndrome |
|
Carious teeth, Aplastic/hypoplastic toenail, Abnormality of the dentition, Clinodactyly of the 5t... |
ORPHA:1094 |
| Van Der Woude Syndrome 2 |
|
Cleft upper lip, Cleft palate, Anodontia |
OMIM:606713 |
| Bartsocas-Papas Syndrome 1 |
|
Omphalocele, Cleft palate, Talipes equinovarus, Micropenis, Syndactyly, Pterygium, Cicatricial la... |
OMIM:263650 |
| Ulnar-Mammary Syndrome |
|
Pyloric stenosis, Hypoplastic nipples, Abnormality of the radius, Camptodactyly of finger, Hypopl... |
ORPHA:3138 |
| Pemphigoid Gestationis |
|
Pruritus, Skin vesicle |
ORPHA:63275 |
| Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Short middle phalanx of finger, Cone-shaped epiphysis, Delayed epiphyseal ossification, Short 1st... |
OMIM:182255 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Dowling-Degos Disease |
|
Hyperkeratotic papule, Epidermoid cyst, Palmar pits, Erythematous papule, Pruritus, Digital pitti... |
ORPHA:79145 |
| Familial Benign Chronic Pemphigus |
|
Acantholysis, Erythema, Skin erosion, Hyperkeratosis, Skin vesicle |
ORPHA:2841 |
| Digital Arthropathy-Brachydactyly, Familial |
|
Brachytelomesophalangy, Short middle phalanx of finger, Short distal phalanx of toe, Radial devia... |
OMIM:606835 |
| Fatco Syndrome |
|
Tarsal synostosis, Finger syndactyly, Absent hand, Split hand, Abnormality of fibula morphology, ... |
ORPHA:2492 |
| Brachydactyly, Type C |
|
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... |
OMIM:113100 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Short 5th metacarpal, Oligodontia, Supernumerary tooth, Uncombable hair, Abnormality of the denti... |
ORPHA:1264 |
| Brachydactyly Type A2 |
|
Short middle phalanx of finger, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short... |
ORPHA:93396 |
| Acheiropody |
|
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... |
OMIM:200500 |
| Pacman Dysplasia |
|
Bowing of the long bones, Epiphyseal stippling |
OMIM:167220 |
| Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive |
|
Split hand, Split foot, Tapered finger |
OMIM:220600 |
| Brachydactyly, Type A1, B |
|
Short middle phalanx of finger, Short 5th metacarpal, Radial deviation of finger, Short distal ph... |
OMIM:607004 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... |
ORPHA:83451 |
| Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Toe syndactyly, Small nail, Triphalangeal thumb, Nail dystrophy, Conical tooth, Selective tooth a... |
OMIM:124480 |
| Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Cutis laxa |
OMIM:614434 |
| Epiphyseal Dysplasia, Baumann Type |
|
Aplasia of metacarpal bones, Hypoplasia of the femoral head, Carpal bone aplasia, Ulnar deviation... |
OMIM:610797 |
| Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
| Moebius Syndrome |
|
Abnormality of the ulna, Cleft palate, Death in infancy, Talipes equinovarus, Aplasia/Hypoplasia ... |
ORPHA:570 |
| Iga Pemphigus |
|
Ulcerative colitis, Acantholysis, Pustule, Annular cutaneous lesion, Pruritus, Neutrophilic infil... |
ORPHA:555905 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand |
OMIM:228250 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Carious teeth, Nail dystrophy, Alopecia, Sparse hair |
OMIM:616353 |
| Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
| Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa |
|
Dystrophic fingernails, Dystrophic toenail, Absent toenail, Nail dystrophy, Erosion of oral mucos... |
ORPHA:231568 |
| Lacrimoauriculodentodigital Syndrome |
|
Carious teeth, Absent lacrimal punctum, Abnormal dental enamel morphology, Hypoplasia of the radi... |
ORPHA:2363 |
| Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly |
|
Short metatarsal, Aplasia/Hypoplasia of the distal phalanges of the hand, Type B brachydactyly, S... |
OMIM:106990 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Metaphyseal irregularity, Malar flattening, Streaky metaphyseal sclerosis, Carpal bone hypoplasia... |
OMIM:603546 |
| Orofacial Cleft 5 |
|
Cleft upper lip, Cleft palate |
OMIM:608874 |
| Orofacial Cleft 6, Susceptibility To |
|
Cleft upper lip, Cleft palate |
OMIM:608864 |
| Orofacial Cleft 1 |
|
Cleft upper lip, Cleft palate |
OMIM:119530 |
| Orofacial Cleft 10 |
|
Unilateral cleft lip, Unilateral cleft palate |
OMIM:613705 |
| Acrofacial Dysostosis 1, Nager Type |
|
Hallux valgus, Cleft palate, Triphalangeal thumb, Talipes equinovarus, Hypoplasia of first ribs, ... |
OMIM:154400 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Short middle phalanx of finger, Pulp c... |
OMIM:606895 |
| Palatopharyngeal Incompetence |
|
Cleft palate, Velopharyngeal insufficiency |
OMIM:167500 |
| Cerebellar Ataxia And Ectodermal Dysplasia |
|
Alopecia, Sparse hair, Agenesis of permanent teeth |
OMIM:212835 |
| Syndactyly Type 5 |
|
2-3 toe syndactyly, Metacarpal synostosis, Ulnar deviation of finger, 3-4 finger syndactyly, Shor... |
ORPHA:93406 |
| Orofaciodigital Syndrome Type 2 |
|
Cleft palate, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Telecanthus, Finger synd... |
ORPHA:2751 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Rectal prolapse, Neoplasm of the rectum, Anal canal squamous cell carcinoma, Lymphadenopathy, Abd... |
ORPHA:424019 |
| Cheilitis Glandularis |
|
Squamous cell carcinoma, Neoplasm |
ORPHA:1221 |
| Peutz-Jeghers Syndrome |
|
Rectal prolapse, Neoplasm of the small intestine, Gastrointestinal hemorrhage, Abdominal pain, En... |
ORPHA:2869 |
| Acrofacial Dysostosis, Weyers Type |
|
Hypodontia, Small nail, Solitary median maxillary central incisor, Abnormal fingernail morphology... |
ORPHA:952 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, Short 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Hypodontia, Dysphagia, Nail dystrophy, Enamel hypoplasia, Anonychia |
OMIM:616029 |
| Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly |
|
Microdontia, Oligodontia, Short finger, Supernumerary tooth, Uncombable hair, Short proximal phal... |
OMIM:191482 |
| Localized Junctional Epidermolysis Bullosa |
|
Atrophic, patchy alopecia, Dystrophic fingernails, Mitten deformity, Dystrophic toenail, Sparse a... |
ORPHA:251393 |
| Isolated Split Hand-Split Foot Malformation |
|
Absent hand, Oligodactyly, Split hand, Finger syndactyly |
ORPHA:2440 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of fingers, Hypodontia, Cleft palate, High palate, Micrognathia, Death in infa... |
ORPHA:989 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Carious teeth, Nail dystrophy, Enamel hypoplasia, Anonychia, Oral mucosal blisters |
ORPHA:79406 |
| Pili Torti-Onychodysplasia Syndrome |
|
Eczema, Cleft palate, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Nail dystrophy, C... |
ORPHA:2890 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Recurrent cutaneous fungal infections, Papule, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:244850 |
| Localized Dystrophic Epidermolysis Bullosa, Nails Only |
|
Dystrophic fingernails, Dystrophic toenail, Absent toenail, Onychogryposis of fingernail, Nail dy... |
ORPHA:158676 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
| Li-Fraumeni Syndrome 2 |
|
Meningioma, Stomach cancer, Breast carcinoma, Sarcoma, Glioma |
OMIM:609265 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Carious teeth, Cleft palate, Sparse eyelashes, Hypoplastic nipples, Oligodontia, Decreased respon... |
OMIM:129900 |
| Erythema Elevatum Diutinum |
|
Skin nodule, Skin rash, Skin vesicle |
ORPHA:90000 |
| Peripheral Dysostosis |
|
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
| Acheiropodia |
|
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... |
ORPHA:931 |
| Holt-Oram Syndrome |
|
Short clavicles, Triphalangeal thumb, Phocomelia, Small thenar eminence, Aplasia of the ulna, Hyp... |
OMIM:142900 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... |
OMIM:174500 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux |
OMIM:234280 |
| Limb-Mammary Syndrome |
|
Aplasia of the uterus, Cleft palate, Hypoplastic nipples, Absent lacrimal punctum, Malar flatteni... |
ORPHA:69085 |
| Hypertension And Brachydactyly Syndrome |
|
Short metacarpal, Short phalanx of finger, Cone-shaped epiphysis, Brachydactyly |
OMIM:112410 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Pruritus, Erythema migrans, Parakeratosis, Skin vesicle |
ORPHA:158681 |
| Reticulum Cell Sarcoma |
|
Sarcoma, Neoplasm |
OMIM:267730 |
| Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Periodontitis, Congenital alopecia totalis, Alopecia universalis |
OMIM:104130 |
| Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
| Ovarian Dysgenesis 2 |
|
Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Gonad... |
OMIM:300510 |
| Split-Hand/Foot Malformation 3 |
|
High palate, Cleft palate, Ridged nail, Nail dystrophy, Split hand, Nail dysplasia, Narrow mouth,... |
OMIM:246560 |
| Synpolydactyly 1 |
|
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... |
OMIM:186000 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Fragile skin, Hyperkeratosis |
OMIM:615028 |
| Pseudoachondroplasia |
|
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... |
OMIM:177170 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Carious teeth, Abnormality of the subungual region, Nail dystrophy, Anonychia, Oral mucosal blisters |
ORPHA:79411 |
| Acrorenal Syndrome |
|
Abnormality of tibia morphology, Abnormality of the ulna, Split hand, Aplasia/Hypoplasia of the r... |
ORPHA:971 |
| Arthritis, Sacroiliac |
|
Pruritus |
OMIM:108100 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... |
OMIM:119100 |
| Acrocallosal Syndrome |
|
Hypospadias, Cleft palate, Smooth philtrum, Finger syndactyly, Micropenis, Microretrognathia, Tri... |
OMIM:200990 |
| Thumb Deformity And Alopecia |
|
Solitary median maxillary central incisor, Alopecia, Short thumb |
OMIM:188150 |
| Brachydactyly, Type A1 |
|
Broad palm, Radial deviation of the 3rd finger, Slender metacarpals, Radial deviation of the 4th ... |
OMIM:112500 |
| Ivic Syndrome |
|
Upper limb undergrowth, Triphalangeal thumb, Hypoplasia of the radius, Patent ductus arteriosus, ... |
OMIM:147750 |
| Treacher-Collins Syndrome |
|
Cleft palate, Abnormal hair morphology, Thyroid hypoplasia, Hypoplasia of the thymus, Abnormal de... |
ORPHA:861 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Hypospadias, Aplasia/Hypoplasia of the phalanges of the toes, Aplasia of the uterus, Occipital me... |
OMIM:276820 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Anonychia, Nail dystrophy, Scarring alopecia of scalp, Enamel hypoplasia, Sparse body hair, Oral ... |
ORPHA:79402 |
| Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Cleft palate, Hypoplasia of the radius, Aplasia/Hypoplasia involving the p... |
ORPHA:2879 |
| Junctional Epidermolysis Bullosa Inversa |
|
Carious teeth, Nail dystrophy, Enamel hypoplasia, Anonychia, Oral mucosal blisters |
ORPHA:79405 |
| Cloacal Exstrophy |
|
Omphalocele, Talipes equinovarus, Absent foot, Ureteropelvic junction obstruction, Ectopic kidney... |
ORPHA:93929 |
| Acrorenal Syndrome, Autosomal Recessive |
|
Radial deviation of finger, Split foot, Clinodactyly, Split hand |
OMIM:201310 |
| Baller-Gerold Syndrome |
|
Cleft palate, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Short humerus, Limited e... |
OMIM:218600 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... |
ORPHA:3329 |
| Dermatitis Herpetiformis |
|
Eczema, Macule, Pruritus, Erythema, Malabsorption, Skin vesicle |
ORPHA:1656 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse eyelashes, Abnormal hair morphology, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sp... |
ORPHA:1808 |
| Charlie M Syndrome |
|
Triphalangeal thumb, Short philtrum, Thin vermilion border, Finger syndactyly, Abnormality of the... |
ORPHA:1406 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616400 |
| Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet |
|
Carious teeth, Micrognathia, Smooth philtrum, Sparse eyelashes, Midline notch of upper alveolar r... |
OMIM:129540 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Thick lower lip vermilion, Highly arched eyebrow, High palate, Brittle hair, Supernumerary tooth,... |
OMIM:617412 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Pruritus, Alopecia, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair |
ORPHA:505 |
| Witkop Syndrome |
|
Fine hair, Small nail, Microdontia of primary teeth, Ridged nail, Concave nail, Sparse hair, Agen... |
OMIM:189500 |
| Odontoma-Dysphagia Syndrome |
|
Dysphagia, Abnormal esophagus morphology |
OMIM:164330 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
| Hypertrichosis Lanuginosa Congenita |
|
Gingival overgrowth, Delayed eruption of teeth, Thick eyebrow, Generalized hirsutism, Abnormality... |
ORPHA:2222 |
| Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges |
|
High palate, Short philtrum, Shortening of all distal phalanges of the fingers, Nail dystrophy, S... |
OMIM:106995 |
| Schopf-Schulz-Passarge Syndrome |
|
Squamous cell carcinoma, Apocrine hidrocystoma, Basal cell carcinoma, Poroma |
OMIM:224750 |
| Epidermolysis Bullosa Simplex 1B, Generalized Intermediate |
|
Nail dystrophy, Nail dysplasia, Oral mucosal blisters |
OMIM:131900 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal ilium morphology, Short middle phalanx of finger, Genu varum, Short greater sciatic notc... |
ORPHA:93314 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Absent hair, Nail dystrophy, Atrichia, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair |
OMIM:614931 |
| Epidermolysis Bullosa, Junctional, Herlitz Type |
|
Carious teeth, Pyloric stenosis, Death in infancy, Nail dystrophy, Enamel hypoplasia, Nail dysplasia |
OMIM:226700 |
| Lichen Planopilaris |
|
Hypopigmented skin patches, Abnormal intestine morphology, Onycholysis, Alopecia, Hepatitis, Derm... |
ORPHA:525 |
| Trichoodontoonychial Dysplasia With Bone Deficiency |
|
Nail dystrophy, Enamel hypoplasia, Nail dysplasia, Sparse hair, Anodontia, Supernumerary nipple |
OMIM:275450 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... |
OMIM:171480 |
| Wells Syndrome |
|
Pruritus, Skin vesicle |
ORPHA:901 |
| Pili Torti |
|
Brittle hair, Alopecia, Abnormal dental enamel morphology, Abnormal eyebrow morphology, Abnormali... |
ORPHA:2889 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 |
|
Split hand, Hammertoe |
OMIM:605726 |
| Acrofacial Dysostosis, Palagonia Type |
|
High, narrow palate, Micrognathia, Sparse eyelashes, Short 4th metacarpal, Thin eyebrow, Oligodon... |
ORPHA:1787 |
| Metaphyseal Anadysplasia |
|
Abnormality of the ulna, Abnormality of epiphysis morphology, Bowing of the long bones, Aplasia/H... |
ORPHA:1040 |
| Enchondromatosis, Multiple, Ollier Type |
|
Hemangioma, Chondrosarcoma, Multiple enchondromatosis |
OMIM:166000 |
| Hyperkeratosis Lenticularis Perstans |
|
Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:409 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Widely spaced teeth, Microdontia, Joint contracture of the hand, Split hand, Selective tooth agen... |
OMIM:225280 |
| Regional Odontodysplasia |
|
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... |
ORPHA:83450 |
| Rhabdoid Tumor Predisposition Syndrome 2 |
|
Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Aplasia of the ulna, Hand oligodactyly, Hydrops fetalis, Neonatal death |
OMIM:276822 |
| Prenatal Bowing |
|
Bowing of the long bones |
OMIM:264050 |
| Hypomelia With Mullerian Duct Anomalies |
|
Postaxial hand polydactyly, Split hand |
OMIM:146160 |
| Dermatoleukodystrophy |
|
Progeroid facial appearance, Premature skin wrinkling |
OMIM:221790 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
| Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Hirsutism, Gingival overgrowth, Delayed eruption of teeth, Thick eyebrow, Generalized hirsutism, ... |
ORPHA:2026 |
| Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... |
ORPHA:189 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Premature loss of teeth, Onycholysis, Dystrophic toenail, Subungual hyperkeratosis... |
ORPHA:69087 |
| Epidermolysis Bullosa Simplex 1A, Generalized Severe |
|
Nail dystrophy, Nail dysplasia, Oral mucosal blisters |
OMIM:131760 |
| Classic Mycosis Fungoides |
|
Hypopigmented skin patches, Skin plaque, Eczema, Lymphadenopathy, Erythema, Alopecia, Splenomegal... |
ORPHA:2584 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Short distal phalanx of toe, Mandibular prognathia, Nail dystrophy, Abnormality of hair texture, ... |
OMIM:601957 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Toe syndactyly, Rectovaginal fistula, Pelvic kidney, Labial hypoplasia, Craniosynostosis, Telecan... |
OMIM:300707 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617756 |
| Zimmermann-Laband Syndrome |
|
Hallux valgus, Hypodontia, High palate, Cleft palate, Wide mouth, Micrognathia, Macroglossia, Sup... |
ORPHA:3473 |
| Cdags Syndrome |
|
Hypospadias, Cleft palate, Sparse eyelashes, Short clavicles, Ectropion, Ptosis, Rectovaginal fis... |
OMIM:603116 |
| Trichorhinophalangeal Syndrome Type 1 And 3 |
|
Micrognathia, High palate, Sparse eyelashes, Shortening of all phalanges of fingers, Long upper l... |
ORPHA:77258 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Fine hair, Abnormal hair morphology, Alopecia, Abnormality of dental morphology, Abnormal toenail... |
ORPHA:248 |
| Bartsocas-Papas Syndrome |
|
Hypoplastic toenails, Toe syndactyly, Micrognathia, Cleft palate, Popliteal pterygium, Talipes, E... |
ORPHA:1234 |
| Postaxial Acrofacial Dysostosis |
|
Pyloric stenosis, Midgut malrotation, Micrognathia, Cleft palate, Abnormal foot morphology, Ectro... |
OMIM:263750 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Horseshoe kidney, Aplasia/Hypoplasia of the patella, Genu varum, Aplasia/hypopla... |
ORPHA:3320 |
| Branchioskeletogenital Syndrome |
|
Carious teeth, Micropenis, Upper limb peromelia, Amelia involving the lower limbs, Absent nipple,... |
ORPHA:1299 |
| Lacrimoauriculodentodigital Syndrome |
|
Carious teeth, Radial deviation of the 3rd finger, Absent lacrimal punctum, Telecanthus, Dacryocy... |
OMIM:149730 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Squamous cell carcinoma |
OMIM:613736 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Dystrophic toenail, Absent toenail, Ridged nail, Pruritus, Abnormal toenail morphology, Abnormal ... |
ORPHA:89838 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, White f... |
ORPHA:2779 |
| Sc phocomelia syndrome |
|
Micrognathia, Phocomelia, Cleft upper lip, Aplasia of the ulna, Wormian bones, Knee flexion contr... |
OMIM:269000 |
| Pachyonychia Congenita 2 |
|
Dry hair, Folliculitis, Subungual hyperkeratosis, Nail dystrophy, Sparse and thin eyebrow, Nail d... |
OMIM:167210 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Abnormality of the dentition, Nail dystrophy, Pruritus, Oral mucosal blisters |
ORPHA:79399 |
| Ear-Patella-Short Stature Syndrome |
|
Hypospadias, Hypoplastic labia minora, Cleft palate, Aplastic clavicle, Camptodactyly of finger, ... |
ORPHA:2554 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Smooth philtrum, Long philtrum, Short ... |
OMIM:190351 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Periodontitis, Gingivitis, ... |
ORPHA:1008 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Enamel hypoplasia, Alopecia, Ridged nail |
OMIM:614564 |
| Isolated Congenital Digital Clubbing |
|
Broad nail, Dystrophic fingernails, Broad finger, Clubbing of toes, Broad toe, Nail dysplasia, On... |
ORPHA:217059 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Widely spaced teeth, Cutaneous finger syndactyly, Sparse eyelashes, Small nail, Sparse and thin e... |
OMIM:613573 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Triphalangeal thumb, Sparse pubic hair, Agonadism, Thin upper lip vermilion, Contracture of the p... |
ORPHA:2232 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft upper lip, Cleft palate |
OMIM:106250 |
| Craniosynostosis, Adelaide Type |
|
Hallux valgus, Shortening of all distal phalanges of the fingers, Carpal bone malsegmentation, Co... |
OMIM:600593 |
| Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Hallux valgus, Mandibular prognathia, Avascular necrosis of the capital femoral epiphysis, Irregu... |
OMIM:304950 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Genu varum, Death in infancy, Talipes equinovarus, Phocomelia, Bilateral r... |
OMIM:274000 |
| Cerebral Sarcoma |
|
Fibrosarcoma, Neoplasm |
OMIM:117600 |
| Codas Syndrome |
|
Omphalocele, Hypoplasia of the odontoid process, Metaphyseal dysplasia, Ptosis, Rectovaginal fist... |
OMIM:600373 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Carious teeth, Sparse eyelashes, Folliculitis, Nail dystrophy, Alopecia, Scarring alopecia of sca... |
OMIM:612843 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Squamous cell carcinoma |
OMIM:618373 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the skin, Neoplasm of the rectum, Meningioma, Adenomatous colonic polyposis, Endometr... |
ORPHA:454840 |
| Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis |
OMIM:263450 |
| Elastoderma |
|
Premature skin wrinkling, Cutis laxa |
ORPHA:228240 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... |
OMIM:186200 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hypospadias, Micrognathia, High palate, Hip contracture, Oligodontia, Ulnar deviation of finger, ... |
OMIM:210730 |
| 46,Xy Sex Reversal 3 |
|
Sex reversal, Penoscrotal hypospadias, Exaggerated rugosity of the labia majora, Clitoral hypertr... |
OMIM:612965 |
| Isolated Agammaglobulinemia |
|
Sinusitis, Sepsis, Pneumonia, Recurrent cutaneous abscess formation, Abnormality of the lymphatic... |
ORPHA:229717 |
| Alopecia Areata 1 |
|
Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits |
OMIM:104000 |
| Ulnar-Mammary Syndrome |
|
Pyloric stenosis, Hypoplastic nipples, Hypoplasia of the radius, Micropenis, Anterior pituitary h... |
OMIM:181450 |
| Epidermolysis Bullosa Acquisita |
|
Pruritus, Nail dystrophy, Inflammation of the large intestine, Abnormal hair morphology |
ORPHA:46487 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Cubitus valgus, Curly eyelashes, Malar flattening, Short toe, Single interphalangeal crease of fi... |
OMIM:611717 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Micrognathia, Cleft palate, Pierre-Robin sequence, Tapered finger, Glossoptosis, Easily subluxate... |
OMIM:311895 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular acetabular roof, Coxa vara, Irregular, rachitic-like metaphyses, Enlarged joints, Sever... |
OMIM:184252 |
| Fraser Syndrome |
|
Hypospadias, Omphalocele, Death in infancy, Abnormal hair pattern, Finger syndactyly, Umbilical h... |
ORPHA:2052 |
| Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
| Ablepharon Macrostomia Syndrome |
|
Omphalocele, Aplasia/Hypoplasia of the nipples, Abnormal hair pattern, Camptodactyly of finger, H... |
ORPHA:920 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Knee dislocation, Tapered finger, Multiple joint dislocation, Metaphyseal irregularity, Dislocate... |
OMIM:618395 |
| X-Linked Agammaglobulinemia |
|
Hypopigmented skin patches, Sinusitis, Sepsis, Recurrent cutaneous abscess formation, Chronic oti... |
ORPHA:47 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Thin nail, Nail dystrophy, Absent eyebrow, Absent eyelashes, Conical tooth, Sparse hair |
OMIM:618625 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail |
OMIM:614928 |
| Solitary Rectal Ulcer Syndrome |
|
Bloody diarrhea, Rectal prolapse, Tenesmus, Bloody mucoid diarrhea, Stercoral ulcer, Intermittent... |
ORPHA:209964 |
| Mental Retardation, Fra12A Type |
|
Hyperkeratosis |
OMIM:136630 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Split foot |
OMIM:601348 |
| Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Nail dystrophy, Alopecia, Nail dysplasia, Abnormality of the dentition, Oral mucosal blisters |
ORPHA:79397 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis, Alopecia, Alopecia of scalp |
OMIM:260910 |
| Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation |
|
Cleft palate, Short philtrum, Dystrophic toenail, Mandibular prognathia, Thick upper lip vermilio... |
OMIM:226440 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
| Aarskog-Scott Syndrome |
|
Cleft palate, Pes planus, Delayed eruption of teeth, Finger syndactyly, Genu recurvatum, Camptoda... |
ORPHA:915 |
| Chronic Mucocutaneous Candidiasis |
|
Feeding difficulties in infancy, Hepatitis, Abnormal dental enamel morphology, Recurrent infectio... |
ORPHA:1334 |
| Dyggve-Melchior-Clausen Disease |
|
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Rhizomelic arm shortening... |
OMIM:223800 |
| Familial Reactive Perforating Collagenosis |
|
Hyperkeratotic papule, Inflammatory abnormality of the skin, Erythematous papule, Pruritus, Perif... |
ORPHA:79147 |
| Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
| Symbrachydactyly Of Hands And Feet |
|
Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A... |
ORPHA:1570 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... |
OMIM:602032 |
| Acrofrontofacionasal Dysostosis |
|
Hypospadias, Cleft palate, High palate, Bifid scrotum, Eyelid coloboma, Abnormality of epiphysis ... |
ORPHA:1784 |
| Porokeratosis Of Mibelli |
|
Hyperkeratosis, Pruritus, Aplasia/Hypoplasia of the skin |
ORPHA:735 |
| Microcephaly-Micromelia Syndrome |
|
Micrognathia, Cleft palate, Talipes equinovarus, Craniosynostosis, Absent radius, Short tibia, Ol... |
OMIM:251230 |
| Heart-Hand Syndrome, Spanish Type |
|
Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly |
OMIM:140450 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Trisomy 10P |
|
Abnormal foot morphology, Abnormal hip joint morphology, Talipes equinovarus, Ulnar deviated club... |
ORPHA:171929 |
| Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb |
OMIM:174200 |
| Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Atopic dermatitis, Eczema, High palate, Micrognathia, Pruritus, Alopecia, Chronic mucocutaneous c... |
OMIM:618282 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Abnormality of the knee, Cubitus valgus, Prominent calcaneus, Malar flattening, Toe clinodactyly,... |
ORPHA:457395 |
| Clouston Syndrome |
|
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Absent pubic hair, Brittle hair, Sparse and... |
OMIM:129500 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Fraser Syndrome 1 |
|
Hypospadias, Cutaneous finger syndactyly, Cleft palate, Extension of hair growth on temples to la... |
OMIM:219000 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Aquagenic Palmoplantar Keratoderma |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Excessive skin wrinkling on dorsum of ha... |
ORPHA:498359 |
| Hypoplasminogenemia |
|
Duodenal ulcer, Abnormality of the ovary, Gingival overgrowth, Nephrolithiasis, Periodontitis, Gi... |
ORPHA:722 |
| Hypotrichosis 4 |
|
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair |
OMIM:146550 |
| Diphallia |
|
Hypospadias, Bifid scrotum, Abnormal spermatogenesis, Penoscrotal transposition, Renal malrotatio... |
ORPHA:227 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Hypodontia, Cleft palate, Joint contracture of the hand, Bifid uvula, Split hand, ... |
OMIM:603543 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Abnormality of the elbow, Split hand, Abnormality of the wrist, Postaxial hand polydactyly, Short... |
ORPHA:2491 |
| Hereditary Mucoepithelial Dysplasia |
|
Fine hair, Abnormal morphology of female internal genitalia, Hematuria, Alopecia, Gingival overgr... |
ORPHA:1839 |
| Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Alopecia of scalp, Trichodysplasia, Amelogenesis imperfecta |
ORPHA:79129 |
| Laurin-Sandrow Syndrome |
|
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Aplasia/Hypoplasia of the t... |
ORPHA:2378 |
| Reticular Dysgenesis |
|
Sepsis, Chronic otitis media, Malabsorption, Skin rash, Aplasia/Hypoplasia of the thymus, Recurre... |
ORPHA:33355 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft lip, Cleft palate, Tooth agenesis |
ORPHA:1074 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Atopic dermatitis, Pneumonia, Chronic otitis media, Anal canal squamous carcinoma, Recurrent vira... |
ORPHA:217390 |
| Syndactyly, Type V |
|
Cutaneous finger syndactyly, 4-5 toe syndactyly, Joint contracture of the hand, 3-4 toe syndactyl... |
OMIM:186300 |
| Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Keratoconjunctivitis sicca, Nephrotic syndrome, Xerostomia, Breast aplasia, Generalize... |
ORPHA:238468 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
| Juvenile Hyaline Fibromatosis |
|
Abnormal hair morphology, Gingival overgrowth, Abnormality of the gastrointestinal tract, Papule,... |
ORPHA:2028 |
| Pierre Robin Syndrome And Oligodactyly |
|
Cleft palate, Pierre-Robin sequence |
OMIM:172880 |
| Oeis Complex |
|
Omphalocele, Talipes equinovarus, Ambiguous genitalia, female, Absence of the sacrum, Ambiguous g... |
OMIM:258040 |
| Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Hypodontia, Aganglionic megacolon, Agenesis of canine, Absent cupid's bow, C... |
ORPHA:2919 |
| Kerion Celsi |
|
Inflammatory abnormality of the skin, Alopecia, Recurrent skin infections, Recurrent cutaneous ab... |
ORPHA:499 |
| Fibromatosis, Gingival, With Distinctive Facies |
|
Irregular dentition, High palate, Delayed eruption of permanent teeth, Thick eyebrow, Everted low... |
OMIM:228560 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Toe syndactyly, Hallux valgus, Short 5th metacarpal, Short fifth metatarsal, Symphalangism affect... |
ORPHA:93409 |
| Renal Dysplasia-Limb Defects Syndrome |
|
Fibular aplasia, Renal hypoplasia, Micrognathia, High palate, Talipes equinovarus, Phocomelia, Re... |
OMIM:266910 |
| Hypotrichosis Simplex |
|
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... |
ORPHA:55654 |
| Schöpf-Schulz-Passarge Syndrome |
|
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:50944 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Microgastria, Phocomelia, Aplastic clavicle, Abnormality of the radius, Abnormality of the humeru... |
ORPHA:2538 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Cleft upper lip, Cleft palate, Stomach cancer |
OMIM:137215 |
| Eem Syndrome |
|
Carious teeth, Widely spaced teeth, Microdontia, Finger syndactyly, Selective tooth agenesis, Abn... |
ORPHA:1897 |
| Non-Epidermolytic Palmoplantar Keratoderma |
|
Pruritus, Erythema, Papule, Skin ulcer |
ORPHA:2337 |
| Malakoplakia |
|
Inflammatory abnormality of the skin, Prostate neoplasm, Urinary urgency, Urinary bladder inflamm... |
ORPHA:556 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Triphalangeal thumb, Onychogryposis of fingernail, Fingernail dysplasia, Alopecia, Finger syndact... |
ORPHA:2251 |
| Acrodermatitis Enteropathica |
|
Corneal erosion, Skin ulcer, Conjunctivitis, Cheilitis, Erythema, Abnormal eyebrow morphology, Ch... |
ORPHA:37 |
| Alopecia Areata 2 |
|
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp |
OMIM:610753 |
| Mmep Syndrome |
|
Oral cleft, Triphalangeal thumb, Median cleft lip, Split foot |
ORPHA:3434 |
| Bladder Exstrophy And Epispadias Complex |
|
Horseshoe kidney, Bifid clitoris, Anteriorly placed anus, Unilateral renal agenesis, Bladder exst... |
OMIM:600057 |
| Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Pustule, Atrophic scars, Papule, Skin ulcer, Skin vesicle |
ORPHA:48104 |
| Seckel Syndrome 5 |
|
Hypodontia, High palate, Micrognathia, Oligodontia, Pes planus, Downslanted palpebral fissures, S... |
OMIM:613823 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
High palate, Gingival overgrowth, Delayed eruption of teeth, Abnormality of dental morphology, Ex... |
ORPHA:2025 |
| Idiopathic Trachyonychia |
|
Atopic dermatitis, Ridged nail, Fingernail dysplasia, Thin nail, Nail dystrophy, Circumungual hyp... |
ORPHA:79153 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Irregular tarsal ossification, Small epiphyses, High palate, Irregular carpal bones, Ivory epiphy... |
OMIM:226980 |
| Dracunculiasis |
|
Nausea and vomiting, Recurrent cutaneous abscess formation, Arthritis, Skin rash, Diarrhea, Subcu... |
ORPHA:231 |
| Xeroderma Pigmentosum Variant |
|
Basal cell carcinoma, Squamous cell carcinoma, Melanoma |
ORPHA:90342 |
| 10Q22.3Q23.3 Microdeletion Syndrome |
|
Talipes, Curved middle phalanx of the 4th toe, Upslanted palpebral fissure, Epicanthus, Arachnoda... |
ORPHA:276413 |
| Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Broad palm, Metaphyseal cupping, Metaphyseal dysplasia, Genu varum, Metaphyseal widening, Metaphy... |
OMIM:250420 |
| Laurin-Sandrow Syndrome |
|
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Short fo... |
OMIM:135750 |
| Boomerang Dysplasia |
|
Fibular aplasia, Neonatal death, Hypoplastic iliac body, Absent radius |
OMIM:112310 |
| Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Short middle phalanx of finger, Co... |
ORPHA:93384 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus |
OMIM:146750 |
| Polydactyly, Preaxial Iv |
|
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... |
OMIM:174700 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Micrognathia, High palate, Abnormality of the philtrum, Midshaft hypospadias, Long eyelashes, Del... |
ORPHA:2863 |
| Papillon-Lefèvre Syndrome |
|
Hypertrichosis, Pustule, Chronic furunculosis, Recurrent cutaneous abscess formation, Sparse body... |
ORPHA:678 |
| Localized Epidermolysis Bullosa Simplex |
|
Nail dystrophy, Pruritus, Erosion of oral mucosa, Oral mucosal blisters |
ORPHA:79400 |
| Vaginal Atresia |
|
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... |
ORPHA:65681 |
| Duane-Radial Ray Syndrome |
|
Triphalangeal thumb, Hypoplasia of the radius, Syndactyly, Short humerus, Upper limb muscle hypop... |
OMIM:607323 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormality of the ulna, Cleft palate, Hand oligodactyly, Micrognathia, Glossoptosis, Abnormality... |
ORPHA:3104 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Carious teeth, Dystrophic toenail, Abnormal dental enamel morphology, Finger syndactyly, Sparse h... |
ORPHA:3253 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Short philtrum, Fingernail dysplasia, Mandibular prognathia, Abnormal fingernail morphology, Alop... |
ORPHA:2325 |
| Osebold-Remondini Syndrome |
|
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Type A brachydactyly, Hypoplasia ... |
OMIM:112910 |
| Orofaciodigital Syndrome Type 4 |
|
Genu varum, Cleft palate, Finger syndactyly, Monorchism, Camptodactyly of finger, Hypoplastic toe... |
ORPHA:2753 |
| Orofaciodigital Syndrome Iii |
|
Microdontia, Tongue nodules, Supernumerary tooth, Bifid uvula, Bifid tongue, Postaxial foot polyd... |
OMIM:258850 |
| Hypotrichosis 5 |
|
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair |
OMIM:612841 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Short greater sciatic notch, Flared femoral metaphysis, Hypoplasia of prox... |
OMIM:184253 |
| Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair |
OMIM:617294 |
| Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Costal cartilage calcification, Chondrocalcinosis, Osteoarthritis of the small joints of the hand... |
OMIM:118610 |
| Congenital Radioulnar Synostosis |
|
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... |
ORPHA:3269 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Urethral atresia, Proximal placement of thumb, Absent radius, Anal atresia, Trach... |
OMIM:314390 |
| White-Kernohan Syndrome |
|
Telecanthus, Short palpebral fissure, Thin upper lip vermilion, Metopic synostosis, Epicanthus, R... |
OMIM:619426 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Abnormality of the hand, 2-3 toe syndactyly, High palate, Micrognathia, Eruption failure, Tapered... |
ORPHA:476126 |
| Multiple Enchondromatosis, Maffucci Type |
|
Hemangioma, Chondrosarcoma, Multiple enchondromatosis |
OMIM:614569 |
| Radial Hemimelia |
|
Deviation of the hand or of fingers of the hand, Abnormality of the trapezium, Aplasia/Hypoplasia... |
ORPHA:93321 |
| Neu-Laxova Syndrome 1 |
|
Cleft palate, Joint contracture of the hand, Small placenta, Finger syndactyly, Patent ductus art... |
OMIM:256520 |
| Palant Cleft Palate Syndrome |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Contracture of the proximal ... |
OMIM:260150 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Nail dystrophy, Alopecia, Nail pits |
OMIM:601705 |
| De Barsy Syndrome |
|
Talipes equinovarus, Delayed eruption of teeth, Small, conical teeth, Patent ductus arteriosus, D... |
ORPHA:2962 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis |
OMIM:101850 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology |
ORPHA:3196 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Knee dislocation, Micrognathia, High palate, Thin eyebrow, Webbed neck, Atrophic s... |
OMIM:618000 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Ulnar claw, Split hand |
OMIM:606595 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Micrognathia, Metaphyseal dysplasia, Abnormal hair morphology, Nail dystrophy, Metaphyseal irregu... |
ORPHA:319195 |
| Visceral Myopathy 2 |
|
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Megacystis, Esophagitis,... |
OMIM:619350 |
| Cheilitis Glandularis |
|
Squamous cell carcinoma, Carcinoma |
OMIM:118330 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Nail dystrophy |
OMIM:131850 |
| Leopard Syndrome 1 |
|
Hypospadias, Cleft palate, Limited elbow movement, Mandibular prognathia, Ptosis, Cubitus valgus,... |
OMIM:151100 |
| Cleft Lip/Palate |
|
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... |
ORPHA:199306 |
| Bladder Exstrophy |
|
Omphalocele, Abnormality of the ureter, Abnormality of the clitoris, Abnormality of the anus, Ing... |
ORPHA:93930 |
| Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement |
|
Hyperkeratosis |
OMIM:270220 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Abnormal palate morphology, Long philtrum, Avascular necrosis of the capital femoral epiphysis, S... |
ORPHA:502 |
| Teeth, Supernumerary |
|
Supernumerary tooth, Mesiodens |
OMIM:187100 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Multiple Synostoses Syndrome 3 |
|
Cleft palate, Metacarpal synostosis, Metatarsal synostosis, Cubitus valgus, Broad hallux, Broad t... |
OMIM:612961 |
| Dermatoleukodystrophy |
|
Hyperkeratosis |
ORPHA:1659 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Pruritus, Nail dystrophy, Gingival recession, Fragile nails, Leukonychia, Woolly hair, Tooth agen... |
OMIM:615821 |
| Seckel Syndrome 1 |
|
Hypospadias, Cleft palate, Pes planus, 11 pairs of ribs, Elbow flexion contracture, Cone-shaped e... |
OMIM:210600 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Split hand, Hammertoe |
OMIM:118300 |
| Barber-Say Syndrome |
|
Hypoplastic nipples, Wide mouth, Ectropion, Telecanthus, Delayed eruption of teeth, Generalized h... |
ORPHA:1231 |
| Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Micrognathia, Anteriorly placed anus, Upslanted palpebral fissure, Absent radius, Anal atresia, A... |
OMIM:600123 |
| Lelis Syndrome |
|
Carious teeth, Hypodontia, Absent lower eyelashes, Mandibular prognathia, Yellow nails, Nail dyst... |
ORPHA:140936 |
| Craniosynostosis And Dental Anomalies |
|
Hallux valgus, 2-3 toe syndactyly, Fingernail dysplasia, Supernumerary tooth, Delayed eruption of... |
OMIM:614188 |
| Tricho-Dento-Osseous Syndrome |
|
Widely spaced teeth, Microdontia, Enamel hypomineralization, Finger clinodactyly, Agenesis of inc... |
ORPHA:3352 |
| Amelogenesis Imperfecta |
|
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... |
ORPHA:88661 |
| Nail Disorder, Nonsyndromic Congenital, 6 |
|
Nail dystrophy, Nail dysplasia, Anonychia, Tapered distal phalanges of finger |
OMIM:107000 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Talipes equinovarus, Malar flattening, Short 5th finger, Short foot, Postaxial oligodactyly, Apla... |
ORPHA:52056 |
| Postaxial Acrofacial Dysostosis |
|
Micrognathia, Cleft palate, Malar flattening, Downslanted palpebral fissures, Hypoplasia of the r... |
ORPHA:246 |
| Amyloidosis, Primary Localized Cutaneous, 2 |
|
Pruritus |
OMIM:613955 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Elevated circulating follicle stimulating hormone level, Telecanthus, Premature ovarian insuffici... |
ORPHA:572333 |
| Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
Micrognathia, High palate, Supernumerary tooth, Delayed eruption of teeth, Finger syndactyly, San... |
OMIM:264475 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Carious teeth, Nail dystrophy, Scarring alopecia of scalp, Enamel hypoplasia, Nail dysplasia |
OMIM:226670 |
| Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Squamous cell carcinoma |
OMIM:613988 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Carious teeth, Sparse eyelashes, Hypoplastic nipples, Cleft palate, Renal dysplasia, Megacystis, ... |
OMIM:604292 |
| Mesomelia-Synostoses Syndrome |
|
Abnormality of the knee, Malar flattening, Synostosis of joints, Abnormality of tibia morphology,... |
ORPHA:2496 |
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Micrognathia, Hip contracture, Adducted thumb, Long philtrum, Inguinal hernia, Knee flexion contr... |
OMIM:616266 |
| Hypoglossia-Hypodactylia |
|
Micrognathia, Aglossia, Adactyly, Microglossia, Epicanthus, Split hand, Narrow mouth, Retrognathia |
OMIM:103300 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Fanconi Anemia, Complementation Group B |
|
Death in infancy, Duodenal atresia, Bilateral radial aplasia, Esophageal atresia, Patent ductus a... |
OMIM:300514 |
| Hypotrichosis 11 |
|
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... |
OMIM:615059 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypospadias, Hallux valgus, Pyloric stenosis, Abnormal foot morphology, Posterior pituitary hypop... |
ORPHA:268261 |
| Oligodontia |
|
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... |
ORPHA:99798 |
| Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Cutaneous finger syndactyly, Split foot, Split hand |
OMIM:183802 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neoplasm of the lung, Myelodysplasia, Multiple myeloma, Hepatocellu... |
ORPHA:158057 |
| Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormality of pelvic girdle bone morphology, Short toe, Abnormality of long bone morphology, Sho... |
OMIM:259270 |
| Leydig Cell Hypoplasia |
|
Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Abnormal internal genitalia, A... |
ORPHA:755 |
| Scalp-Ear-Nipple Syndrome |
|
Fine hair, Renal hypoplasia, 2-3 toe syndactyly, Narrow palpebral fissure, Abnormal hair morpholo... |
OMIM:181270 |
| Cleidocranial Dysplasia |
|
Carious teeth, Sinusitis, Cleft palate, Dystrophic toenail, Abnormal dental enamel morphology, De... |
ORPHA:1452 |
| Nager Syndrome |
|
Abnormal palate morphology, Micrognathia, Cleft palate, Triphalangeal thumb, Wide mouth, Phocomel... |
ORPHA:245 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, 2-3 toe syndactyly, Cleft palate, Sparse eyelashes, Palmoplantar keratoderma, Patent... |
OMIM:106260 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Rhizomelia, Short foot, Short metacarpal, Mesomelia, Postaxial hand polydactyly, Brachydactyly |
OMIM:611263 |
| Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short metatarsal, Hitchhiker thumb, Short metacarpal, Short thumb, Short distal phalanx of finger... |
OMIM:112450 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Fine hair, Onycholysis, Abnormal fingernail morphology, Abnormal dental enamel morphology, Advanc... |
ORPHA:1028 |
| Oculocerebrocutaneous Syndrome |
|
Cleft palate, Eyelid coloboma, Alopecia, Congenital hip dislocation, Cryptorchidism, Orbital cyst |
OMIM:164180 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Talipes equinovarus, Split hand |
OMIM:607831 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Joint contracture of the hand, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand musc... |
ORPHA:399086 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal fingertip morphology, Dermal translucency, Thick eyebrow |
ORPHA:529965 |
| Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
| Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Abnormality of secondary sexual hair, Aplasia of the uterus, Gynecomastia, Bifid scr... |
ORPHA:90797 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Alveolar process hypoplasia, Hypodontia, Maxillozygomatic hypoplasia, Malar flattening, Delayed e... |
ORPHA:2972 |
| Heart-Hand Syndrome Type 2 |
|
Abnormal palate morphology, Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elb... |
ORPHA:1350 |
| Ectodermal Dysplasia 5, Hair/Nail Type |
|
Absent toenail, Sparse scalp hair, Dystrophic fingernails |
OMIM:614927 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Short finger, Tapered finger, Alopecia totalis, Abnormality of the nail, Death in childhood |
OMIM:302000 |
| Pycnodysostosis |
|
Carious teeth, Hypodontia, Delayed eruption of permanent teeth, Micrognathia, Ridged nail, Osteol... |
OMIM:265800 |
| Oculotrichodysplasia |
|
Carious teeth, Widely spaced primary teeth, Sparse eyelashes, Microdontia of primary teeth, Spars... |
OMIM:257960 |
| Ivic Syndrome |
|
Triphalangeal thumb, Rectovaginal fistula, Aplastic clavicle, Synostosis of carpal bones, Hypopla... |
ORPHA:2307 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft upper lip, Cleft palate, Absent radius |
OMIM:179400 |
| Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Tracheoesophageal fistula, Esophageal atresia |
OMIM:189960 |
| Townes-Brocks Syndrome |
|
Hypospadias, Broad hallux phalanx, Abnormal foot morphology, Triphalangeal thumb, Bifid scrotum, ... |
ORPHA:857 |
| Tibial Hemimelia |
|
Hypospadias, Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Cleft pala... |
ORPHA:93322 |
| Ulnar Hemimelia |
|
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... |
ORPHA:93320 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hypospadias, Broad hallux phalanx, Abnormal muscle fiber morphology, 1-3 toe syndactyly, Hirsutis... |
OMIM:175700 |
| C Syndrome |
|
Omphalocele, Accessory oral frenulum, Patent ductus arteriosus, Toe syndactyly, Micrognathia, Hig... |
OMIM:211750 |
| Ablepharon-Macrostomia Syndrome |
|
Toe syndactyly, Wide mouth, Talipes equinovarus, Aplasia/Hypoplasia of the nipples, Absent eyebro... |
OMIM:200110 |
| Cryoglobulinemic Vasculitis |
|
Keratoconjunctivitis sicca, Mediastinal lymphadenopathy, Gastrointestinal infarctions, Petechiae,... |
ORPHA:91138 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Bronchiectasis, Pyoderma gangrenosum, Recurrent sinopulmonary infections, Alopecia, Recurrent inf... |
OMIM:616576 |
| Treacher Collins Syndrome 4 |
|
Micrognathia, Cleft palate, Malar flattening, Downslanted palpebral fissures, Lower eyelid colobo... |
OMIM:618939 |
| Alopecia Universalis |
|
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes |
ORPHA:701 |
| Brachydactyly Type B |
|
Broad hallux phalanx, Symphalangism affecting the phalanges of the hand, 2nd-5th toe middle phala... |
ORPHA:93383 |
| Duane Retraction Syndrome |
|
Cleft palate, Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, Hypoplas... |
ORPHA:233 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Eczema, Cleft palate, Pruritus, Delayed eruption of teeth, Gingivitis, Papule, Skin rash, Abnorma... |
ORPHA:2314 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
High palate, Patchy alopecia, Talipes equinovarus, Tapered finger, Short palm, Camptodactyly of f... |
ORPHA:85279 |
| Deafness-Craniofacial Syndrome |
|
Alopecia, Short lingual frenulum |
OMIM:125230 |
| Thalidomide Embryopathy |
|
Aplasia/hypoplasia of the humerus, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of t... |
ORPHA:3312 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Micrognathia, Anteriorly placed anus, Aplasia/Hypoplasia of the thumb, Upslanted palpebral fissur... |
ORPHA:1352 |
| Odontomicronychial Dysplasia |
|
Slow-growing nails, Premature eruption of permanent teeth, Short nail, Thin nail, Abnormality of ... |
ORPHA:1811 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Micrognathia, Triangular mouth, Dental malocclusion, Dental crowding, Long philtrum, Cleft soft p... |
OMIM:616331 |
| Mammary-Digital-Nail Syndrome |
|
Nail dystrophy, Nail dysplasia, Anonychia |
OMIM:613689 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Widely spaced toes, Acantholysis, Mitten deformity, Neonatal death, Alopecia totalis, Sandal gap,... |
OMIM:609638 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
High, narrow palate, Abnormal lip morphology, Smooth philtrum, Micrognathia, Microdontia, Wide mo... |
ORPHA:2707 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Babinski sign, Clonus, Foot osteomyelitis, Acral ulceration, Spasticity, Spastic paraplegia, Prog... |
ORPHA:139578 |
| Familial Visceral Myopathy |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Micrognathia, Cleft palate, Aganglionic meg... |
ORPHA:2604 |
| Aminopterin Syndrome Sine Aminopterin |
|
Highly arched eyebrow, Micrognathia, Rudimentary postaxial polydactyly of hands, Cleft palate, Hi... |
OMIM:600325 |
| Hemifacial Atrophy, Progressive |
|
Poliosis, Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion, ... |
OMIM:141300 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma, Nail dystrophy, Alopecia, Nail dysplasia, Everted lower lip vermilion, Sparse hair |
OMIM:242300 |
| Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Postaxial oligodactyly, Carpal bone aplasia |
OMIM:609428 |
| Pierpont Syndrome |
|
Smooth philtrum, Long upper lip, Malar flattening, Telecanthus, Prominent subcalcaneal fat pad, M... |
OMIM:602342 |
| Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
| Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
| Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Skin nodule, Annular cutaneous lesion, Skin ulcer, Erythema... |
ORPHA:542592 |
| Acromesomelic Dysplasia 2A |
|
Aplasia/Hypoplasia of the patella, Death in infancy, Valgus hand deformity, Aplasia/Hypoplasia of... |
OMIM:200700 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Short philtrum, Nail dystrophy, Acne inversa, Hypoplastic sweat glands, Natal tooth |
OMIM:617337 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
High palate, Alopecia, Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of ... |
ORPHA:90153 |
| Mucolipidosis Ii Alpha/Beta |
|
Talipes equinovarus, Diastasis recti, Palpebral edema, Sparse and thin eyebrow, Short long bone, ... |
OMIM:252500 |
| Pseudopelade Of Brocq |
|
Abnormal hair morphology, Cheilitis, Alopecia, Recurrent skin infections, Abnormality of the nail... |
ORPHA:129 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormality of the ulna, Microdontia, Aplasia/Hypoplasia of the radius, Abnormality of the metaph... |
ORPHA:1837 |
| 46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... |
OMIM:233420 |
| Chronic Granulomatous Disease |
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Sinusitis, Pyloric stenosis, Eczema, Sepsis, Mediastinal lymphadenopathy, Macule, Skin ulcer, Mal... |
ORPHA:379 |
| Van Der Woude Syndrome 1 |
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Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Bifid uvula |
OMIM:119300 |
| Sweeney-Cox Syndrome |
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Micrognathia, Cleft palate, High palate, Short philtrum, Short clavicles, Upper eyelid coloboma, ... |
OMIM:617746 |
| Peutz-Jeghers Syndrome |
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Abnormality of the ureter, Rectal prolapse, Precocious puberty with Sertoli cell tumor, Oral mela... |
OMIM:175200 |
| Premature Ovarian Failure 7 |
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Clitoral hypertrophy, Gonadal dysgenesis, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:612964 |
| Spastic Paraplegia 9A, Autosomal Dominant |
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Urinary urgency, Generalized amyotrophy, Urinary incontinence, Gastroesophageal reflux, Hiatus he... |
OMIM:601162 |
| Dermatoosteolysis, Kirghizian Type |
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Nail dystrophy, Nail dysplasia, Oligodontia, Split hand |
OMIM:221810 |
| Nablus Mask-Like Facial Syndrome |
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Smooth philtrum, Sparse eyelashes, Hypoplastic nipples, Joint contracture of the hand, Short palp... |
OMIM:608156 |
| Autosomal Dominant Spastic Paraplegia Type 17 |
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Hand muscle weakness, Hand muscle atrophy, Split hand |
ORPHA:100998 |
| Acrootoocular Syndrome |
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High, narrow palate, Micrognathia, Short finger, Choking episodes, Supernumerary tooth, Prominent... |
ORPHA:2980 |
| Dermatopathia Pigmentosa Reticularis |
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Nail dystrophy, Alopecia of scalp, Reticulate pigmentation of oral mucosa |
OMIM:125595 |
| Trichodermodysplasia-Dental Alterations Syndrome |
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Fine hair, Sparse lateral eyebrow, Brittle hair, Supernumerary tooth, Delayed eruption of teeth, ... |
ORPHA:3353 |
| Ganglioneuroma |
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Colorectal polyposis, Hypertension, Functional intestinal obstruction, Abnormal prostate morpholo... |
ORPHA:251992 |
| Anonychia With Flexural Pigmentation |
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Carious teeth, Alopecia of scalp, Abnormal hair morphology, Anonychia |
ORPHA:69125 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Carious teeth, Hallux valgus, Talipes equinovarus, Torticollis, Dysplasia of the femoral head, De... |
ORPHA:536467 |
| Peeling Skin Syndrome 5 |
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Hyperkeratosis |
OMIM:617115 |
| Maternal Phenylketonuria |
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Micrognathia, High palate, Long philtrum, Bifid distal phalanx of the thumb, Esophageal atresia, ... |
ORPHA:2209 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome |
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Carious teeth, Micrognathia, Supernumerary tooth, Hypoplasia of the zygomatic bone |
ORPHA:3145 |
| Radial Aplasia, X-Linked |
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Anal atresia, Penile hypospadias, Absent radius |
OMIM:312190 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
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Fine hair, Cutis laxa, Excessive wrinkled skin, Thin vermilion border, Thin skin, Dermal transluc... |
OMIM:614438 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
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Distal upper limb amyotrophy, Split hand, Hammertoe |
OMIM:614455 |
| Mckusick-Kaufman Syndrome |
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Hydrometrocolpos, Hydronephrosis, Aganglionic megacolon, Vesicovaginal fistula, Rectovaginal fist... |
OMIM:236700 |
| Brachydactyly Type B2 |
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Short distal phalanx of toe, Symphalangism affecting the phalanges of the hand, Synostosis of car... |
ORPHA:140908 |
| Granulomas, Congenital Cerebral |
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Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
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Neonatal death |
OMIM:305690 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
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High palate, Hammertoe, Split hand, Hypotrophy of the small hand muscles, Ulnar claw |
OMIM:607684 |
| Fontaine Progeroid Syndrome |
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Smooth philtrum, Hypoplastic nipples, Death in infancy, Oligodontia, Neonatal death, Patent ductu... |
OMIM:612289 |
| Ichthyosis Hystrix Of Curth-Macklin |
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Nail dystrophy, Recurrent skin infections |
ORPHA:79503 |
| Acromesomelic Dysplasia 2C |
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Radial bowing, Single transverse palmar crease, Shortening of all proximal phalanges of the finge... |
OMIM:201250 |
| Cleft Palate, Isolated |
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Increased overbite, Cleft palate, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
| Cardiocranial Syndrome, Pfeiffer Type |
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Hypospadias, High, narrow palate, Micrognathia, Sparse hair, Deep palmar crease, Torticollis, Tem... |
ORPHA:2872 |
| Myopathy, Distal, 3 |
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Joint contracture of the hand, Split hand |
OMIM:610099 |
| Imagawa-Matsumoto Syndrome |
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Hypertrichosis, Mandibular prognathia, Large hands, Camptodactyly, Anteriorly placed anus, Crypto... |
OMIM:618786 |
| Fanconi Anemia, Complementation Group D2 |
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Horseshoe kidney, Hypergonadotropic hypogonadism, Annular pancreas, Pelvic kidney, Esophageal atr... |
OMIM:227646 |
| Trehalase Deficiency |
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Vomiting, Abdominal distention, Malabsorption, Diarrhea, Abdominal pain |
ORPHA:103909 |
| Jackson-Weiss Syndrome |
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