Digital Clubbing, Isolated Congenital |
|
Clubbing |
OMIM:119900 |
Tendons, Extensor, Of Fingers, Anomalous Insertion Of |
|
Abnormality of finger |
OMIM:187390 |
Trigger Thumb |
|
Abnormal thumb morphology |
OMIM:190410 |
Toes, Space Between First And Second |
|
Sandal gap |
OMIM:189230 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Hallux Varus-Preaxial Polysyndactyly Syndrome |
|
Clinodactyly of the 5th finger, Sandal gap |
ORPHA:2110 |
Acne Inversa, Familial, 3 |
|
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation |
OMIM:613737 |
Epidermodysplasia Verruciformis, X-Linked |
|
Verrucae, Squamous cell carcinoma of the skin |
OMIM:305350 |
Banki Syndrome |
|
Radial deviation of finger, Clinodactyly |
OMIM:109300 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
Syndactyly Type 1 |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly |
ORPHA:93402 |
Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdomen, Pruritus, Stria... |
ORPHA:64745 |
Monosomy 9P |
|
Abnormality of the vertebral column, Cleft palate, Short nose, Malar flattening, Proximal placeme... |
ORPHA:261112 |
Immunodeficiency 51 |
|
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Chronic oral candidiasis, Recurre... |
OMIM:613953 |
Hypotrichosis Simplex Of The Scalp |
|
Fine hair, Atopic dermatitis, Allergic rhinitis, Alopecia of scalp, Pruritus, Parakeratosis, Slow... |
ORPHA:90368 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Cloverleaf skull, Proximal placement of thumb, Low-set ears, Micrognathia, Bowing of... |
ORPHA:93267 |
Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, Short 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Midface retrusion, Short nose, Cubitus valgus, Abnormal form of the vertebral bodi... |
ORPHA:1327 |
8Q22.1 Microdeletion Syndrome |
|
Underfolded helix, Sparse eyelashes, Telecanthus, Abnormal hair pattern, Finger syndactyly, Campt... |
ORPHA:178303 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Nail dystrophy, Palmoplantar keratoderma, Alopecia, Parakeratosis, Hypergranulosis, Congenital no... |
ORPHA:79395 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux |
OMIM:234280 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... |
OMIM:174500 |
Apert Syndrome |
|
Brachyturricephaly, Cleft palate, Corneal erosion, Cloverleaf skull, Aplasia/Hypoplasia of the th... |
ORPHA:87 |
Bazex Syndrome |
|
Acanthosis nigricans, Yellow nails, Nail dystrophy, Palmoplantar keratoderma, Pruritus, Edema, Pa... |
ORPHA:166113 |
Sugarman Brachydactyly |
|
Double first metacarpals, Proximal placement of hallux, Short proximal phalanx of finger, Symphal... |
OMIM:272150 |
Costello Syndrome |
|
Abnormal hair morphology, Abnormal dental enamel morphology, Delayed skeletal maturation, Woolly ... |
ORPHA:3071 |
Porokeratosis |
|
Pruritus, Squamous cell carcinoma of the skin |
ORPHA:79358 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Linear arrays of macular hyperkeratoses in flexural areas, Nail dystrophy, Parakeratosis, Congeni... |
OMIM:601952 |
Porokeratosis Plantaris Palmaris Et Disseminata |
|
Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis |
ORPHA:737 |
Syndactyly Type 2 |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... |
ORPHA:93403 |
Scarf Syndrome |
|
Hypoplastic nipples, Abnormal form of the vertebral bodies, Diastasis recti, Low posterior hairli... |
ORPHA:3134 |
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Pruritus, Nail dystrophy, Palmoplantar keratoderma, Erythema, Parakeratosis, Woolly hair, Leukony... |
OMIM:615821 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Hirsutism, Short toe, Short phalanx of finger, Blepharochalasis, Umbilical hernia, Micrognathia, ... |
OMIM:225410 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis |
OMIM:618531 |
Secretory Component Deficiency |
|
Secretory IgA deficiency |
OMIM:269650 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:244850 |
Marshall-Smith Syndrome |
|
Omphalocele, Overfolded helix, Short nose, Malar flattening, Hearing impairment, Atlantoaxial dis... |
OMIM:602535 |
Momo Syndrome |
|
Underfolded helix, Smooth philtrum, Congenital pseudoarthrosis of the clavicle, Delayed eruption ... |
ORPHA:2563 |
Aarskog-Scott Syndrome |
|
Cleft palate, Delayed eruption of teeth, Finger syndactyly, Genu recurvatum, Megalocornea, Campto... |
ORPHA:915 |
Cutaneous Neuroendocrine Carcinoma |
|
Multiple myeloma, Lymphoid leukemia, Brain neoplasm, Basal cell carcinoma, Squamous cell carcinom... |
ORPHA:79140 |
Bathing Suit Ichthyosis |
|
Erythroderma, Thickened skin, Alopecia, Nail dystrophy, Parakeratosis, Congenital nonbullous icht... |
ORPHA:100976 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis |
OMIM:146750 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short 5th metacarpal, Curved distal phalanx of the thumb, Short palpebral fissure, Thin upper lip... |
ORPHA:370010 |
Cranioectodermal Dysplasia |
|
Abnormal dental enamel morphology, Finger syndactyly, Anteverted nares, Sparse hair, Hypodontia, ... |
ORPHA:1515 |
Aquagenic Palmoplantar Keratoderma |
|
Atopic dermatitis, Orthokeratotic hyperkeratosis, Edema, Palmoplantar keratoderma, Abnormal phala... |
ORPHA:498359 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Cleft palate, Overfolded helix, Short nose, Malar flattening, Proximal placement of thumb, Teleca... |
OMIM:610536 |
Scarf Syndrome |
|
Hypoplastic nipples, Abnormal form of the vertebral bodies, Diastasis recti, Low posterior hairli... |
OMIM:312830 |
Kniest Dysplasia |
|
Cleft palate, Pierre-Robin sequence, Aplasia/hypoplasia of the extremities, Bilateral ptosis, Sho... |
ORPHA:485 |
Cornelia De Lange Syndrome 1 |
|
Pyloric stenosis, 2-3 toe syndactyly, Cleft palate, Hypoplastic nipples, Hirsutism, Phocomelia, C... |
OMIM:122470 |
Momo Syndrome |
|
Thick lower lip vermilion, Underfolded helix, Smooth philtrum, High palate, Brachycephaly, Long p... |
OMIM:157980 |
17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Micrognathia, High palate, Short philtrum, Short nose, Malar flattening, Epicanth... |
ORPHA:217340 |
Fibrochondrogenesis 1 |
|
Omphalocele, Broad ischia, Cleft palate, Short nose, Malar flattening, Joint contracture of the h... |
OMIM:228520 |
Frontometaphyseal Dysplasia 1 |
|
Long phalanx of finger, Hirsutism, Partial fusion of carpals, Delayed eruption of teeth, Camptoda... |
OMIM:305620 |
Pierpont Syndrome |
|
Smooth philtrum, Long upper lip, Malar flattening, Telecanthus, Hearing impairment, Thin upper li... |
ORPHA:487825 |
Pierpont Syndrome |
|
Smooth philtrum, Long upper lip, Large fleshy ears, Short nose, Malar flattening, Telecanthus, He... |
OMIM:602342 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Omphalocele, Short nose, Absent uvula, Camptodactyly, Anteverted nares, Low-set ears, Triangular ... |
OMIM:618529 |
Multiple Synostoses Syndrome 1 |
|
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... |
OMIM:186500 |
Huriez Syndrome |
|
Sclerodactyly, Dry skin, Palmoplantar keratoderma, Lack of skin elasticity |
ORPHA:384 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Squamous cell carcinoma of the skin |
ORPHA:85112 |
Apert Syndrome |
|
Pyloric stenosis, Cutaneous finger syndactyly, Brachyturricephaly, Cleft palate, Chronic otitis m... |
OMIM:101200 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Trisomy 18 |
|
Omphalocele, Cleft palate, Short nose, Iris coloboma, Deviation of finger, Camptodactyly of finge... |
ORPHA:3380 |
Dysosteosclerosis |
|
Increased intervertebral space, Oligodontia, Short ribs, Delayed eruption of teeth, Absent fronta... |
OMIM:224300 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617574 |
Lamellar Ichthyosis |
|
Erythroderma, Pruritus, Lack of skin elasticity, Ichthyosis, Hyperkeratosis, Dry skin, Aplasia/Hy... |
ORPHA:313 |
Porokeratosis Of Mibelli |
|
Pruritus, Porokeratosis, Hyperkeratosis |
ORPHA:735 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Pruritus, Erythema migrans, Skin vesicle, Parakeratosis |
ORPHA:158681 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Underdeveloped nasal alae, Micrognathia, High palate, Long philtrum, Ptosis, Webbed neck, Low pos... |
OMIM:616549 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... |
OMIM:186200 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Cleft palate, Anterior plagiocephaly, Short nose, Abnormality of cranial sutures, Slender finger,... |
ORPHA:163649 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
Otopalatodigital Syndrome, Type I |
|
Omphalocele, Cleft palate, Short 5th metacarpal, Capitate-hamate fusion, Lateral femoral bowing, ... |
OMIM:311300 |
Vulvovaginal Gingival Syndrome |
|
Pruritus, Erythema, Parakeratosis |
ORPHA:83453 |
Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis |
OMIM:263450 |
Psoriasis 2 |
|
Hyperkeratosis, Psoriasiform dermatitis, Scaling skin, Parakeratosis |
OMIM:602723 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... |
OMIM:606719 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Dry skin, Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosif... |
OMIM:612281 |
Kbg Syndrome |
|
Cleft palate, Oligodontia, Telecanthus, Abnormal hair pattern, Delayed skeletal maturation, Thin ... |
ORPHA:2332 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Verrucae, Squamous cell carcinoma of the skin |
OMIM:618309 |
Carpenter Syndrome 1 |
|
Omphalocele, Genu varum, Midface retrusion, Malar flattening, Joint contracture of the hand, Tele... |
OMIM:201000 |
Greenberg Dysplasia |
|
Omphalocele, Abnormal intestine morphology, Epiphyseal stippling, Neonatal death, Malar flattenin... |
OMIM:215140 |
Feingold Syndrome |
|
Hallux valgus, Micrognathia, Toe syndactyly, Depressed nasal bridge, Duodenal atresia, Abnormal f... |
ORPHA:1305 |
Distal Monosomy 12Q |
|
Pyloric stenosis, 2-3 toe syndactyly, Short middle phalanx of finger, Smooth philtrum, Duodenal a... |
ORPHA:96149 |
Weill-Marchesani Syndrome 2 |
|
Short metatarsal, Broad skull, Delayed skeletal maturation, Hypoplasia of the maxilla, Umbilical ... |
OMIM:608328 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Pruritus, Nail dystrophy, Palmoplantar keratoderma, Parakeratosis, Alop... |
OMIM:614594 |
Insulin-Resistance Syndrome Type A |
|
Generalized hirsutism, Hyperkeratosis |
ORPHA:2297 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Palmoplantar keratoderma, Alopecia totalis, Parakeratosis, Hyperkeratos... |
OMIM:300918 |
Atelosteogenesis, Type I |
|
Cleft palate, Distal tapering femur, Talipes equinovarus, Short metatarsal, Neonatal death, Short... |
OMIM:108720 |
Syndactyly Type 3 |
|
Short toe, Camptodactyly of finger, Finger syndactyly |
ORPHA:93404 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Smooth philtrum, Large fleshy ears, Telecanthus, Low-set ears, Short long bone, Unde... |
OMIM:263210 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617756 |
Acne Inversa, Familial, 1 |
|
Acne inversa |
OMIM:142690 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Micrognathia, Convex nasal ridge, Malar prominence, Pectus excavatum, Ptosis, Abnormal clavicle m... |
ORPHA:2522 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Smooth philtrum, Bulbous nose, Thin upper lip vermilion, Anteverted nares, Low-set ears, Microgna... |
OMIM:615761 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Squa... |
OMIM:613736 |
Parana Hard Skin Syndrome |
|
Thickened skin, Tapered finger, Generalized hirsutism, Hyperkeratosis |
ORPHA:2812 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis |
OMIM:148500 |
Anonychia With Flexural Pigmentation |
|
Convex nasal ridge, Alopecia of scalp, Abnormal hair morphology, Follicular hyperkeratosis, Hyper... |
ORPHA:69125 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Pectus carinatum, Abnormality of the philtrum, Synophrys, Epicanthus, F... |
ORPHA:3268 |
Olmsted Syndrome 2 |
|
Pruritus, Palmoplantar keratoderma, Parakeratosis, Woolly hair, Perioral hyperkeratosis, Hyperker... |
OMIM:619208 |
Distal Trisomy 15Q |
|
Omphalocele, Micrognathia, High palate, Pectus excavatum, Long philtrum, Ptosis, Prominent nasal ... |
ORPHA:1707 |
C Syndrome |
|
Omphalocele, Short nose, Fused sternal ossification centers, Accessory oral frenulum, Delayed ske... |
OMIM:211750 |
Non-Distal Trisomy 10Q |
|
Micrognathia, Convex nasal ridge, Depressed nasal bridge, High palate, Pectus excavatum, Brachyce... |
ORPHA:1695 |
Clark-Baraitser syndrome |
|
Thick lower lip vermilion, Broad palm, Broad nasal tip, Exaggerated median tongue furrow, Tapered... |
OMIM:300602 |
Disseminated Superficial Actinic Porokeratosis |
|
Pruritus, Squamous cell carcinoma |
ORPHA:79152 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Cleft palate, Hypoplastic nipples, Talipes equinovarus, Syndactyly, Low-set ears, Umbilical herni... |
OMIM:265000 |
Paget Disease, Extramammary |
|
Eczematoid dermatitis, Neoplasm |
OMIM:167300 |
Leri Pleonosteosis |
|
Abnormality of epiphysis morphology, Upslanted palpebral fissure, Cubitus valgus, Abnormal form o... |
ORPHA:2900 |
Aminopterin Syndrome Sine Aminopterin |
|
Cleft palate, Oligodontia, Joint contracture of the hand, Syndactyly, Low-set ears, Thoracic scol... |
OMIM:600325 |
Tarp Syndrome |
|
Cleft palate, Talipes equinovarus, Hypoplasia of the radius, Short palpebral fissure, Anteverted ... |
OMIM:311900 |
White Sponge Nevus 2 |
|
Edema, Hyperparakeratosis |
OMIM:615785 |
Porokeratosis 3, Multiple Types |
|
Nail dystrophy, Porokeratosis, Parakeratosis |
OMIM:175900 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
Otopalatodigital Syndrome, Type Ii |
|
Nonossified fifth metatarsal, Omphalocele, Cleft palate, Undulate clavicles, Short metatarsal, Ma... |
OMIM:304120 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Oculodentodigital Dysplasia |
|
Carious teeth, Cleft palate, Thin anteverted nares, Brittle hair, Short nose, Palmoplantar kerato... |
ORPHA:2710 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616400 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Malar flattening, Abnormality of the ear, Delayed cranial suture closure, Shagreen patch, Abnorma... |
ORPHA:2511 |
Cole Disease |
|
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:615522 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato... |
ORPHA:284426 |
Atkin-Flaitz Syndrome |
|
Thick lower lip vermilion, Broad palm, Broad nasal tip, Exaggerated median tongue furrow, Tapered... |
OMIM:300431 |
Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb |
OMIM:174200 |
Odontoma-Dysphagia Syndrome |
|
Dysphagia, Odontoma, Abnormal esophagus morphology |
OMIM:164330 |
Neu-Laxova Syndrome |
|
Cleft palate, Abnormal hair morphology, Rickets, Pterygium, Osteomalacia, Abnormal eyelash morpho... |
ORPHA:2671 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Pruritus, Erythema, Skin ulcer |
ORPHA:2337 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Acrokeratosis, Hyperkeratosis |
OMIM:101850 |
Cardiospondylocarpofacial Syndrome |
|
Telecanthus, Pseudoepiphyses, Delayed skeletal maturation, Anteverted nares, Conductive hearing i... |
OMIM:157800 |
Porokeratosis 7, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:614714 |
Warburg Micro Syndrome 3 |
|
Developmental cataract, Micrognathia, Shallow anterior chamber, Hypertrichosis, Low anterior hair... |
OMIM:614222 |
Cornelia De Lange Syndrome 2 |
|
Smooth philtrum, Hirsutism, Proximal placement of thumb, Thin upper lip vermilion, Anteverted nar... |
OMIM:300590 |
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement |
|
Congenital ichthyosiform erythroderma, Hyperkeratosis |
OMIM:270220 |
Acrokeratosis Verruciformis |
|
Acrokeratosis, Hyperkeratosis |
OMIM:101900 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Palmoplantar keratoderma, Lack of skin elasticity, Alopecia totalis |
ORPHA:1366 |
Dermatoleukodystrophy |
|
Thickened skin, Hyperkeratosis |
ORPHA:1659 |
Polydactyly, Preaxial Iv |
|
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... |
OMIM:174700 |
Craniofrontonasal Dysplasia |
|
Broad hallux phalanx, Congenital pseudoarthrosis of the clavicle, Finger syndactyly, Camptodactyl... |
ORPHA:1520 |
Mycophenolate Mofetil Embryopathy |
|
Bifid thoracic vertebrae, Micrognathia, Congenital diaphragmatic hernia, Bifid nose, Iris colobom... |
ORPHA:268249 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Plagiocephaly, Pectus excavatum, Butterfly vertebrae, Hypertrichosis, Duodenal atresia, Webbed ne... |
OMIM:619227 |
Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
2-3 toe syndactyly, Micrognathia, High palate, Hypodontia, Tapered finger, Upslanted palpebral fi... |
OMIM:617061 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Duplication of the distal phalanx of hand, Short nose, Broad toe, Malar flattening, Absent uvula,... |
OMIM:268310 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
2-3 toe syndactyly, Short middle phalanx of finger, Short pointed phalanges, Underfolded helix, B... |
OMIM:263540 |
Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Persistent pupillary membrane, Sparse eyelashes, Fifth finger distal phalanx clinodactyly, Abnorm... |
OMIM:257850 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma, Nail dystrophy, Alopecia, Parakeratosis, Sparse hair, Palmoplantar hyperkeratosis, ... |
OMIM:242300 |
Turnpenny-Fry Syndrome |
|
Malar flattening, Delayed skeletal maturation, Thin upper lip vermilion, Low-set ears, Plagioceph... |
OMIM:618371 |
Porokeratosis 1, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:175800 |
Mental Retardation, Fra12A Type |
|
Hyperkeratosis |
OMIM:136630 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
Frontometaphyseal Dysplasia |
|
Keloids, Cleft palate, Oligodontia, Short metatarsal, Joint contracture of the hand, Hearing impa... |
ORPHA:1826 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Dry skin, Nail dystrophy, Alopecia totalis, Sclerodactyly, Camptodactyly of finger, Hyperkeratosi... |
OMIM:212360 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Nail dystrophy, Recurrent skin infections, Ichthyosis, Hyperkeratosis, Diffuse palmoplantar hyper... |
ORPHA:79503 |
Acrofacial Dysostosis, Cincinnati Type |
|
Micrognathia, Cleft palate, Macrotia, Downslanted palpebral fissures, Anotia, Hypoplasia of the m... |
OMIM:616462 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Short nose, Hearing impairment, Thin upper lip vermilion, Anteverted nares, Triangular mouth, Umb... |
OMIM:616331 |
Cornelia De Lange Syndrome 5 |
|
Cleft palate, Hirsutism, Telecanthus, Proximal placement of thumb, Hearing impairment, Limited el... |
OMIM:300882 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Oligodontia, Short nose, Low-set ea... |
ORPHA:363417 |
Vacterl With Hydrocephalus |
|
Micrognathia, Hemivertebrae, Abnormal form of the vertebral bodies, Absence of the sacrum, Hypopl... |
ORPHA:3412 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Impaired memory B cell generation, Decreased circulating IgG lev... |
OMIM:606843 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Cleft palate, Pierre-Robin sequence, Oligodontia, Short nose, Malar flattening, Hear... |
ORPHA:90652 |
Netherton Syndrome |
|
Allergic rhinitis, Erythroderma, Angioedema, Brittle hair, Hypernatremic dehydration, Sparse scal... |
OMIM:256500 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Sparse eyelashes, Limited elbow extension, Narrow vertebral interpedicular... |
OMIM:250250 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Small epiphyses, Discolored lateral incisors, Conical mandibular incisor, Oligodontia, Tapered fi... |
OMIM:601668 |
Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hemangioma, Papilloma |
ORPHA:464318 |
Mosaic Trisomy 1 |
|
Small anterior fontanelle, Omphalocele, Cleft palate, Deviation of the 5th toe, Broad toe, Comple... |
ORPHA:1692 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Erythema Nodosum, Familial |
|
Erythema, Erythema nodosum |
OMIM:132990 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Micrognathia, Convex nasal ridge, Pectus excavatum, Abnormal hair morphology, Abnormality of the ... |
ORPHA:1979 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Orthokeratosis |
OMIM:173200 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Hearing impairment, Low hanging columella, Anteverted nares, Low-set ears, Highly arched eyebrow,... |
OMIM:613792 |
Fibrochondrogenesis |
|
Omphalocele, Cleft palate, Abnormal form of the vertebral bodies, Short ribs, Camptodactyly of fi... |
ORPHA:2021 |
Coffin-Siris Syndrome 1 |
|
Duodenal ulcer, Cleft palate, Delayed eruption of teeth, Hearing impairment, Intussusception, Del... |
OMIM:135900 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Micrognathia, High palate, Depressed nasal bridge, Short philtrum, Brachycephaly, Ulnar deviation... |
ORPHA:1387 |
Lamb-Shaffer Syndrome |
|
Micrognathia, Broad nasal tip, Epicanthus, Fused cervical vertebrae, Decreased head circumference... |
ORPHA:530983 |
Ectrodactyly-Polydactyly Syndrome |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... |
ORPHA:1892 |
Kbg Syndrome |
|
Oligodontia, Telecanthus, Syndactyly, Delayed skeletal maturation, Anteverted nares, Low posterio... |
OMIM:148050 |
Tarp Syndrome |
|
Cleft palate, Pierre-Robin sequence, Talipes equinovarus, Abnormal hair pattern, Finger syndactyl... |
ORPHA:2886 |
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet |
|
Broad metatarsal, Micrognathia, Brachycephaly, Trigonocephaly, Broad phalanx, Bifid nose, Bulbous... |
OMIM:275595 |
Proteus Syndrome |
|
Limbal dermoid, Mandibular hyperostosis, Spinal canal stenosis, Thin bony cortex, Depressed nasal... |
OMIM:176920 |
Monosomy 5P |
|
High palate, Abnormality of bone mineral density, Small hand, Wide nasal bridge, Low-set, posteri... |
ORPHA:281 |
Vohwinkel Syndrome, Variant Form |
|
Hypergranulosis, Orthokeratosis, Hyperkeratosis, Parakeratosis |
OMIM:604117 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Cleft palate, Short nose, Telecanthus, Hearing impairment, Cleft lip, Syndactyly, Ca... |
OMIM:616894 |
Smith-Magenis Syndrome |
|
Cleft palate, Chronic otitis media, Short nose, Abnormal form of the vertebral bodies, Hand polyd... |
ORPHA:819 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Boomerang Dysplasia |
|
Poorly ossified vertebrae, Omphalocele, Abnormality of the ulna, Aplasia/Hypoplasia of the abdomi... |
ORPHA:1263 |
Postaxial Tetramelic Oligodactyly |
|
Oligodactyly, Ectrodactyly, Abnormality of the metacarpal bones, Abnormality of finger |
ORPHA:2730 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin, Erythema, Skin ulcer |
ORPHA:31112 |
Palmoplantar Keratoderma, Nagashima Type |
|
Hypergranulosis, Orthokeratotic hyperkeratosis |
OMIM:615598 |
Kagami-Ogata Syndrome |
|
Omphalocele, Short palpebral fissure, Diastasis recti, Anteverted nares, Hypoplasia of the maxill... |
OMIM:608149 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Cleft palate, Pierre-Robin sequence, Talipes equinovarus, Overfolded helix, Joint co... |
OMIM:300373 |
Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections |
ORPHA:345 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Sparse eyelashes, Alopecia, Parakeratosis, Orthokeratosis, Thick hair, Ichthyosis, Dry skin, Spar... |
OMIM:607626 |
Feingold Syndrome 1 |
|
Small anterior fontanelle, 2-3 toe syndactyly, Duodenal atresia, Hearing impairment, Short palpeb... |
OMIM:164280 |
Asymmetric Short Stature Syndrome |
|
Micrognathia, Convex nasal ridge, Fused cervical vertebrae, Frontal bossing, Hemihypotrophy of lo... |
OMIM:108450 |
Peeling Skin Syndrome 6 |
|
Pruritus, Orthokeratosis, Parakeratosis |
OMIM:618084 |
48,Xxyy Syndrome |
|
Carious teeth, Cleft palate, Chronic otitis media, Abnormal dental enamel morphology, Broad jaw, ... |
ORPHA:10 |
Maxillonasal Dysplasia |
|
Depressed nasal ridge, Cleft palate, Depressed nasal bridge, Microdontia, Open bite, Mandibular p... |
ORPHA:1248 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Cleidocranial Dysplasia |
|
Sinusitis, Carious teeth, Cleft palate, Dystrophic toenail, Chronic otitis media, Abnormal dental... |
ORPHA:1452 |
Familial Reactive Perforating Collagenosis |
|
Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Maculopapular exanthema, Crusti... |
ORPHA:79147 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Immunodeficiency 11 |
|
Decreased circulating antibody level |
OMIM:615206 |
Ear-Patella-Short Stature Syndrome |
|
Cleft palate, Aplastic clavicle, Hearing impairment, Camptodactyly of finger, Delayed skeletal ma... |
ORPHA:2554 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pyloric stenosis, Brachyturricephaly, Eczema, Cleft palate, Contracture of the distal interphalan... |
ORPHA:83617 |
Pde4D Haploinsufficiency Syndrome |
|
Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Short nose, Malar flatt... |
ORPHA:439822 |
Trisomy 20P |
|
Smooth philtrum, Short nose, Abnormal form of the vertebral bodies, Reduced bone mineral density,... |
ORPHA:261318 |
Kerion Celsi |
|
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... |
ORPHA:499 |
Lowry-Maclean Syndrome |
|
Small anterior fontanelle, Pyloric stenosis, Cleft palate, Short nose, Megalocornea, Low-set ears... |
ORPHA:2409 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Hypertrichosis, Depressed nasal bridge, Cutis laxa, Brachycephaly, Ichthyosis, Hyperkerat... |
OMIM:612379 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Pruritus, Alopecia, Sparse scalp hair, Sparse pubic hair, Perifollicular hyperkeratosis, Sparse a... |
ORPHA:505 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hernia of the abdominal wall, Omphalocele, Upper limb undergrowth, Redundant neck skin, Hypoplast... |
ORPHA:96334 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Short nose, Malar flattening, Turricephaly, Anteverted nares, Low-set ears, Umbilical hernia, Rad... |
ORPHA:171839 |
De Barsy Syndrome |
|
Talipes equinovarus, Delayed eruption of teeth, Small, conical teeth, Dermal translucency, Sparse... |
ORPHA:2962 |
Teebi Hypertelorism Syndrome 1 |
|
Broad palm, Omphalocele, Highly arched eyebrow, Depressed nasal bridge, Long philtrum, Ptosis, Up... |
OMIM:145420 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cleft palate, Large fleshy ears, Short nose, Telecanthus, Multiple prenatal fractures, Short ribs... |
OMIM:616897 |
Gorlin Syndrome |
|
Carious teeth, Vertebral fusion, Vertebral wedging, Brachycephaly, Palmar pits, Hemivertebrae, Ma... |
ORPHA:377 |
Codas Syndrome |
|
Omphalocele, Crumpled ear, Metaphyseal dysplasia, Proximal placement of thumb, Delayed eruption o... |
OMIM:600373 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Death in infancy, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Malar fl... |
OMIM:274000 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Conductive hearing impairment, Micrognathia, Congenital bilateral ptosis, Malar flattening, Joint... |
OMIM:608257 |
Chromosome 9P Deletion Syndrome |
|
Omphalocele, Malar flattening, Thin upper lip vermilion, Anteverted nares, Low-set ears, Choanal ... |
OMIM:158170 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Nail dystrophy, Palmoplantar keratoderma, Parakeratosis, Follicular hyperkeratosis, Finger joint ... |
OMIM:615225 |
Otopalatodigital Syndrome Type 1 |
|
Cleft palate, Oligodontia, Proximal placement of thumb, Hearing impairment, Increased bone minera... |
ORPHA:90650 |
Acquired Ichthyosis |
|
Pruritus, Erythema, Palmoplantar keratoderma, Recurrent skin infections, Ichthyosis, Hyperkeratos... |
ORPHA:454 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr... |
OMIM:604777 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Palmoplantar keratoderma, Erythema, Hyperkeratosis |
OMIM:617525 |
Triphalangeal Thumbs With Brachyectrodactyly |
|
Triphalangeal thumb, Split hand, Short 3rd toe, Short 2nd finger, Brachydactyly, Split foot |
OMIM:190680 |
Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Cleft palate, Ectopic anus, Abnormal vertebral segmentation ... |
ORPHA:2345 |
Restrictive Dermopathy |
|
Short nail, Small placenta, Dermal translucency, Camptodactyly of finger, Sparse hair, Large plac... |
ORPHA:1662 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Secondary microcephaly, Hyperkeratosis |
OMIM:618339 |
Rhombencephalosynapsis |
|
Aganglionic megacolon, Polydactyly, Short nose, Short phalanx of finger, Low-set, posteriorly rot... |
ORPHA:59315 |
Muenke Syndrome |
|
Short middle phalanx of finger, Capitate-hamate fusion, Malar flattening, Hearing impairment, Bro... |
OMIM:602849 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Cleft palate, Asymmetry of the thorax, Delayed eruption of teeth, Increased bone mineral density,... |
ORPHA:2780 |
2Q32Q33 Microdeletion Syndrome |
|
Broad hallux phalanx, Cleft palate, Talipes equinovarus, Oligodontia, Toe clinodactyly, Anteverte... |
ORPHA:251019 |
Radio-Tartaglia Syndrome |
|
Hirsutism, Long eyebrows, Hearing impairment, Bulbous nose, Thin upper lip vermilion, Anteverted ... |
OMIM:619312 |
Fryns Syndrome |
|
Omphalocele, Cleft palate, Duodenal atresia, Aplasia of the left hemidiaphragm, Joint contracture... |
OMIM:229850 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
2-3 toe syndactyly, Cleft palate, Smooth philtrum, Bilateral ptosis, Short nose, Syndactyly, Thin... |
OMIM:614701 |
Brachydactyly, Type B1 |
|
Cutaneous finger syndactyly, Delayed eruption of permanent teeth, Short middle phalanx of finger,... |
OMIM:113000 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hallux valgus, Cleft palate, Talipes equinovarus, Spatulate thumbs, 11 pairs of ribs, Broad dista... |
OMIM:245600 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
2-3 toe syndactyly, Iris coloboma, Hearing impairment, Short palpebral fissure, Broad hallux, Thi... |
ORPHA:508498 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Cleft palate, Talipes equinovarus, Short nose, Thin upper lip vermilion, Anteverted nares, Low-se... |
OMIM:300209 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
2-3 toe syndactyly, Hip contracture, Bulbous nose, Anteverted nares, Elbow flexion contracture, L... |
OMIM:616809 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Pustule, Nail dystrophy, Erythema, Parakeratosis |
OMIM:614204 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Chronic myelomonocyti... |
ORPHA:90280 |
Diastrophic Dysplasia |
|
Cleft palate, Midface retrusion, Overfolded helix, Symphalangism affecting the phalanges of the h... |
ORPHA:628 |
Acrodysostosis |
|
Abnormality of the ulna, Epiphyseal stippling, Short metatarsal, Short nose, Abnormal form of the... |
ORPHA:950 |
Focal Dermal Hypoplasia |
|
Omphalocele, Duodenal atresia, Abnormal dental enamel morphology, Short ribs, Iris coloboma, Fing... |
ORPHA:2092 |
Koolen-De Vries Syndrome |
|
Pyloric stenosis, Cleft palate, Overfolded helix, Abnormal dental enamel morphology, Bulbous nose... |
ORPHA:96169 |
Melnick-Needles Syndrome |
|
Omphalocele, Short thorax, Delayed eruption of teeth, Hearing impairment, Anisospondyly, Delayed ... |
ORPHA:2484 |
Oculodentodigital Dysplasia |
|
Carious teeth, Cleft palate, Thin anteverted nares, Cubitus valgus, 3-4 toe syndactyly, Low hangi... |
OMIM:164200 |
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy |
|
Pyloric stenosis, Omphalocele, Smooth philtrum, Overfolded helix, Sparse pubic hair, Diastasis re... |
OMIM:618419 |
Intellectual Disability, Birk-Barel Type |
|
Contractures involving the joints of the feet, High, narrow palate, Micrognathia, Broad nasal tip... |
ORPHA:166108 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Fine hair, Cutis laxa, Excessive wrinkled skin, Thin vermilion border, Thin skin, Dermal transluc... |
OMIM:614438 |
9P13 Microdeletion Syndrome |
|
Highly arched eyebrow, High palate, Dry skin, Metopic synostosis, Brachycephaly, Abnormality of c... |
ORPHA:324313 |
Bartsocas-Papas Syndrome 1 |
|
Omphalocele, Cleft palate, Talipes equinovarus, Short nose, Syndactyly, Pterygium, Cicatricial la... |
OMIM:263650 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Atelosteogenesis, Type Ii |
|
Short middle phalanx of finger, Short greater sciatic notch, Increased intervertebral space, Tali... |
OMIM:256050 |
Mental Retardation, Autosomal Dominant 26 |
|
Prominent nasal tip, Highly arched eyebrow, Decreased palmar creases, Wide mouth, Brachycephaly, ... |
OMIM:615834 |
Craniofacial Microsomia |
|
Limbal dermoid, Conductive hearing impairment, Micrognathia, Cleft palate, Upper eyelid coloboma,... |
OMIM:164210 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Carious teeth, Cleft palate, Short palpebral fissure, Low-set ears, Micrognathia, Depressed nasal... |
OMIM:616734 |
Ohdo Syndrome |
|
Widely spaced teeth, Micrognathia, Smooth philtrum, Depressed nasal bridge, Long philtrum, Ptosis... |
OMIM:249620 |
Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Cleft palate, Duodenal atresia, Short nose, Joint contracture of the hand, Delayed e... |
OMIM:247200 |
Martsolf Syndrome 1 |
|
Slender ulna, Talipes equinovarus, Short toe, Hypoplasia of the maxilla, Short phalanx of finger,... |
OMIM:212720 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Orthokeratotic hyperkeratosis, Pruritus, Erythema, Hyperkeratosis, Scaling skin |
OMIM:617571 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short nose, Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Low-set, poster... |
ORPHA:2370 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Carious teeth, Hallux valgus, Talipes equinovarus, Dysplasia of the femoral head, Dermal transluc... |
ORPHA:536467 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Short nose, Hearing impairment, Bulbous nose, Syndactyly, Camptodactyly, Low-set ears, Umbilical ... |
ORPHA:369891 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Tarsal synostosis, Cleft palate, Talipes equinovarus, Absent phalangeal crease, Webbed neck, Ante... |
OMIM:618469 |
Camptodactyly Syndrome, Guadalajara, Type I |
|
Hallux valgus, Short metatarsal, Short nose, Cubitus valgus, Malar flattening, Absent frontal sin... |
OMIM:211910 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Micrognathia, Cleft palate, Abnormal vertebral morphology, Short nose, Low-set, posteriorly rotat... |
ORPHA:2015 |
Mental Retardation, X-Linked 91 |
|
High palate, Short nose, Small hand, Cubitus valgus, Short 5th finger, Epicanthus, Short foot, Lo... |
OMIM:300577 |
Huriez Syndrome |
|
Squamous cell carcinoma of the skin |
OMIM:181600 |
Mosaic Trisomy 14 |
|
Micrognathia, Cleft palate, High palate, Wide mouth, Ectopic anus, Ptosis, Low-set, posteriorly r... |
ORPHA:1703 |
Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Basal cell carcinoma, Squamous cell carcinoma, Skin ulcer |
ORPHA:409 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Pruritus, Arthritis, Skin rash, Skin ulcer |
ORPHA:231 |
Pseudodiastrophic Dysplasia |
|
Micrognathia, Smooth philtrum, Talipes equinovarus, Brachycephaly, Tongue-like lumbar vertebral d... |
OMIM:264180 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Talipes equinovarus, Hearing impairment, Thin upper lip vermilion, Low-set ears, Protruding ear, ... |
OMIM:617452 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Microdontia, Tongue nodules, Supernumerary tooth, Bifid uvula, Kyphosis, Short ... |
OMIM:258850 |
Erythrokeratodermia Variabilis |
|
Patchy palmoplantar hyperkeratosis, Abnormal hair morphology, Tapered finger, Alopecia, Erythema,... |
ORPHA:317 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Underdeveloped nasal alae, Micrognathia, Conductive hearing impairment, High palate, Upslanted pa... |
OMIM:248910 |
Al Kaissi Syndrome |
|
Smooth philtrum, Telecanthus, Thin upper lip vermilion, Low-set ears, Depressed nasal bridge, Lon... |
OMIM:617694 |
Monosomy 18P |
|
Carious teeth, Cleft palate, Low posterior hairline, Protruding ear, Micrognathia, Hypodontia, We... |
ORPHA:1598 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Short greater sciatic notch, Cleft palate, Short nail, Talipes equinovarus, Short nose, Broad toe... |
OMIM:312870 |
Miller-Dieker Syndrome |
|
Omphalocele, Short nose, Epicanthus, Sacral dimple, Abnormality of upper lip, Anteverted nares, C... |
ORPHA:531 |
Cenani-Lenz Syndrome |
|
Short nose, Abnormal form of the vertebral bodies, Malar flattening, Hypoplasia of the radius, Fi... |
ORPHA:3258 |
Nut Midline Carcinoma |
|
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom... |
ORPHA:443167 |
Craniosynostosis, Herrmann-Opitz Type |
|
Micrognathia, Convex nasal ridge, Cleft palate, Brachycephaly, Webbed neck, Short nose, Craniosyn... |
ORPHA:2145 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617526 |
Developmental And Epileptic Encephalopathy 89 |
|
Omphalocele, Cleft palate, Smooth philtrum, Talipes equinovarus, Asymmetry of the ears, Neonatal ... |
OMIM:619124 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Cleft palate, Phocomelia, Finger syndactyly, Tibial torsion, Micrognathia, Aplasia/Hy... |
ORPHA:3320 |
Crossed Polysyndactyly |
|
Depressed nasal bridge, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Upslanted p... |
ORPHA:2935 |
Au-Kline Syndrome |
|
Cleft palate, Oligodontia, Underdeveloped nasal alae, High palate, Postaxial polydactyly, Downsla... |
OMIM:616580 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Talipes equinovarus, Hearing impairment, Thin upper lip vermilion, Low-set ears, Toe syndactyly, ... |
ORPHA:505237 |
Pycnodysostosis |
|
Carious teeth, Absent frontal sinuses, Increased bone mineral density, Abnormality of pelvic gird... |
OMIM:265800 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Catifa Syndrome |
|
Developmental cataract, Cleft palate, Long philtrum, Mild microcephaly, Tooth malposition, Epican... |
OMIM:618761 |
Cohen Syndrome |
|
Short metatarsal, Cubitus valgus, Thoracic scoliosis, Hypoplasia of the maxilla, Micrognathia, Na... |
OMIM:216550 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Micrognathia, Cleft palate, Depressed nasal bridge, Brachycephaly, Long philtrum, Upslanted palpe... |
OMIM:257300 |
Chromosome 5P13 Duplication Syndrome |
|
High palate, Short philtrum, Brachycephaly, Large hands, Long fingers, Craniosynostosis, Epicanth... |
OMIM:613174 |
Marshall Syndrome |
|
Irregular proximal tibial epiphyses, Cleft palate, Pierre-Robin sequence, Short nose, Irregular d... |
OMIM:154780 |
Acral Self-Healing Collodion Baby |
|
Erythema, Localized epidermolytic hyperkeratosis, Lack of skin elasticity, Edema of the dorsum of... |
ORPHA:281127 |
Frank-Ter Haar Syndrome |
|
Buphthalmos, Redundant neck skin, Talipes equinovarus, Megalocornea, Thin upper lip vermilion, Ca... |
OMIM:249420 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Micrognathia, Short clavicles, Aplasia/hypoplasia of the extremities, Hypoplastic scapulae, Umbil... |
OMIM:308050 |
Pseudodiastrophic Dysplasia |
|
Omphalocele, Talipes equinovarus, Rhizomelia, Malar flattening, Platyspondyly, Elbow dislocation,... |
ORPHA:85174 |
Larsen-Like Syndrome |
|
Conductive hearing impairment, Radial deviation of the 4th finger, Cleft palate, Absent nasal bri... |
OMIM:608545 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Nail dystrophy, Hyperkeratosis |
OMIM:131850 |
Raine Syndrome |
|
Brachyturricephaly, Cleft palate, Neonatal death, Short nose, Malar flattening, Long hallux, Incr... |
OMIM:259775 |
Dermatitis, Atopic |
|
Atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Recurrent skin infections, Facial erythem... |
OMIM:603165 |
Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... |
OMIM:610713 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Brachyturricephaly, Talipes equinovarus, Telecanthus, Joint contracture of the hand, Genu recurva... |
OMIM:182212 |
Axial Mesodermal Dysplasia Spectrum |
|
Limbal dermoid, Omphalocele, Micrognathia, Abnormal intestine morphology, Abnormality of the knee... |
ORPHA:1834 |
Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of the phalanges of the toes, Triphalangeal thumb, Aplasia/Hypoplasia of metat... |
OMIM:605289 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Squamous cell carcinoma, Neoplasm |
ORPHA:1221 |
Rubinstein-Taybi Syndrome 2 |
|
Carious teeth, Prominent nose, Micrognathia, Convex nasal ridge, High palate, Hirsutism, Posterio... |
OMIM:613684 |
Lujan-Fryns Syndrome |
|
Micrognathia, High palate, Pectus excavatum, Short philtrum, Brachycephaly, Prominent nasal bridg... |
ORPHA:776 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cleft palate, Smooth philtrum, Pierre-Robin sequence, Talipes equinovarus, Hearing impairment, Th... |
OMIM:611209 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial polydactyly |
OMIM:617642 |
Potocki-Shaffer Syndrome |
|
Underdeveloped nasal alae, Short philtrum, Brachycephaly, Sparse lateral eyebrow, Short nose, Tel... |
OMIM:601224 |
Intellectual Disability, Wolff Type |
|
Thick lower lip vermilion, Abnormal intestine morphology, Large hands, Upslanted palpebral fissur... |
ORPHA:3080 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Thoracic hypoplasia, Horizontal ribs, Omphalocele, Depressed nasal bridge, Midface retrusion, Lat... |
OMIM:617895 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Joint contracture of the hand, Delayed eruption of teeth, Camptodactyly of finger, Short phalanx ... |
OMIM:612350 |
Chromosome 17Q12 Duplication Syndrome |
|
Micrognathia, Smooth philtrum, Cleft soft palate, Peters anomaly, Downslanted palpebral fissures,... |
OMIM:614526 |
Coffin-Siris Syndrome 11 |
|
High palate, Depressed nasal bridge, Wide mouth, Cleft soft palate, Low posterior hairline, Small... |
OMIM:618779 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Malar flattening, Peters anomaly, Telecanthus, Short palpebral fissure, Low-set ears, ... |
OMIM:612582 |
Acrofrontofacionasal Dysostosis 2 |
|
High palate, Redundant neck skin, Brachycephaly, Ptosis, Wide nose, Overfolded helix, Posteriorly... |
OMIM:239710 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Cutaneous finger syndactyly, Smooth philtrum, Hirsutism, Rectal prolapse, Talipes equinovarus, Ol... |
OMIM:235510 |
Codas Syndrome |
|
Crumpled ear, Overfolded helix, Short nose, Abnormal form of the vertebral bodies, Abnormal denta... |
ORPHA:1458 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Basal cell carcinoma, Squamous cell carcinoma |
OMIM:618267 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Redundant neck skin, Diastasis recti, Camptodactyly, Anteverted nares, Large placent... |
ORPHA:254528 |
Desbuquois Dysplasia 1 |
|
Monkey wrench femoral neck, Genu varum, Smooth philtrum, Talipes equinovarus, Short metatarsal, S... |
OMIM:251450 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Carious teeth, Midface retrusion, Dystrophic toenail, Abnormal dental enamel morphology, Finger s... |
ORPHA:3253 |
Duane-Radial Ray Syndrome |
|
Triphalangeal thumb, Hypoplasia of the radius, Iris coloboma, Syndactyly, Short humerus, Upper li... |
OMIM:607323 |
Pachyonychia Congenita 4 |
|
Nail dystrophy, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:615728 |
Craniodigital-Intellectual Disability Syndrome |
|
Micrognathia, Brachycephaly, Short nose, Long eyelashes, Abnormal hair pattern, Finger syndactyly... |
ORPHA:1514 |
Chromosome 16P13.3 Duplication Syndrome |
|
Pectus excavatum, Tapered finger, Ptosis, Long fingers, Upslanted palpebral fissure, Short nose, ... |
OMIM:613458 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Micrognathia, Protruding ear, Short philtrum, Ptosis, Epicanthus, Wide nasal bridge, Low-set ears... |
OMIM:614230 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Widely spaced toes, Acantholysis, Mitten deformity, Neonatal death, Alopecia totalis, Sandal gap,... |
OMIM:609638 |
Trisomy 9P |
|
Protruding ear, Dental crowding, Brachycephaly, Macrotia, Downslanted palpebral fissures, Kyphosi... |
ORPHA:236 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Hypoplastic nipples, Talipes equinovarus, Hypoplasia of first ribs, Thickened cortex of long bone... |
OMIM:269150 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Smooth philtrum, Hip contracture, Bulbous nose, Thin upper lip vermilion, Anteverted nares, Low-s... |
OMIM:616801 |
Epidermolytic Palmoplantar Keratoderma |
|
Epidermal hyperkeratosis, Clubbing, Hypergranulosis, Palmoplantar hyperkeratosis, Palmar hyperker... |
ORPHA:2199 |
Fibrodysplasia Ossificans Progressiva |
|
Broad femoral neck, Hallux valgus, Conductive hearing impairment, Widely spaced teeth, Ectopic os... |
OMIM:135100 |
Dysostosis, Stanescu Type |
|
Carious teeth, Abnormal dental enamel morphology, Increased bone mineral density, Hypoplasia of t... |
ORPHA:1798 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
C1-C2 subluxation, Hirsutism, Hip contracture, Delayed eruption of teeth, Bulbous nose, Protrusio... |
OMIM:259600 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Abnormal palate morphology, Micrognathia, Depressed nasal bridg... |
ORPHA:2097 |
Werner Syndrome |
|
Neoplasm of the small intestine, White forelock, Lipoatrophy, Increased bone mineral density, Hyp... |
ORPHA:902 |
Weaver Syndrome |
|
Talipes equinovarus, Finger syndactyly, Camptodactyly of finger, Fine hair, Micrognathia, Long ph... |
ORPHA:3447 |
Distal Monosomy 10Q |
|
Cleft palate, Smooth philtrum, Short metatarsal, Short nose, Thin upper lip vermilion, Low-set ea... |
ORPHA:96148 |
Acrocephalopolydactyly |
|
Depressed nasal ridge, Thoracic hypoplasia, Limb undergrowth, Short nose, Epicanthus, Oxycephaly,... |
ORPHA:221054 |
20Q11.2 Microduplication Syndrome |
|
Short nose, Limited elbow extension, Palpebral edema, Anteverted nares, Depressed nasal bridge, P... |
ORPHA:363659 |
Triploidy |
|
Meningocele, Omphalocele, Micrognathia, Cleft palate, Wide mouth, Macroglossia, Low-set, posterio... |
ORPHA:3376 |
Superficial Epidermolytic Ichthyosis |
|
Acantholysis, Edema, Palmoplantar keratoderma, Erythema, Ichthyosis |
ORPHA:455 |
Developmental And Epileptic Encephalopathy 73 |
|
Short nose, Sensorineural hearing impairment, Hip dysplasia, Narrow nasal bridge, Cataract, Flexi... |
OMIM:618379 |
Neonatal Lupus Erythematosus |
|
Parakeratosis, Malar rash, Macrocephaly, Skin rash, Maculopapular exanthema, Hyperkeratosis |
ORPHA:398124 |
3P25.3 Microdeletion Syndrome |
|
Pyloric stenosis, Cleft palate, Congenital pseudoarthrosis of the clavicle, Proximal placement of... |
ORPHA:435638 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Macroglossia, Congenital hip dislocation, Delayed eruption of teeth, Wormian bones, ... |
OMIM:614450 |
Myopathy, Congenital, Bailey-Bloch |
|
Conductive hearing impairment, Micrognathia, Cleft palate, High palate, Brachycephaly, Ptosis, Ky... |
OMIM:255995 |
Arthrogryposis, Distal, Type 1C |
|
Cleft palate, Hip contracture, Talipes equinovarus, Cleft lip, Camptodactyly of finger, Elbow fle... |
OMIM:619110 |
Ectrodactyly-Polydactyly |
|
Split hand, Postaxial hand polydactyly, Split foot |
OMIM:225290 |
Hajdu-Cheney Syndrome |
|
Cleft palate, Telecanthus, Absent frontal sinuses, Iris coloboma, Hearing impairment, Periodontit... |
ORPHA:955 |
Elastoderma |
|
Eczema, Erysipelas, Cutis laxa, Premature skin wrinkling |
ORPHA:228240 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Dystrophic toenail, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:89838 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
2-3 toe syndactyly, High palate, Low anterior hairline, Tapered finger, Brachycephaly, Long finge... |
OMIM:218000 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
High palate, Large fontanelles, Alopecia, Breast aplasia, Osteolytic defects of the distal phalan... |
ORPHA:90153 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Short thorax, Short ribs, Micrognathia, Absent or minimally ossified vertebral bodie... |
ORPHA:93271 |
Frank-Ter Haar Syndrome |
|
Delayed eruption of teeth, Genu recurvatum, Camptodactyly of finger, Protruding ear, Umbilical he... |
ORPHA:137834 |
Femoral-Facial Syndrome |
|
Cleft palate, Talipes equinovarus, Short nose, Thin upper lip vermilion, Low-set ears, Abnormalit... |
ORPHA:1988 |
14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Micrognathia, High palate, Depressed nasal bridge, Highly arched eyebrow, Long ph... |
ORPHA:261120 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Prominent nose, Hallux valgus, Brachyturricephaly, Broad palm, Synophrys, Wide nose, Joint contra... |
OMIM:300280 |
Maternal Phenylketonuria |
|
Micrognathia, High palate, Bladder exstrophy, Long philtrum, Bifid distal phalanx of the thumb, B... |
ORPHA:2209 |
Mycosis Fungoides |
|
Neoplasm of the skin, Psoriasiform dermatitis, Eczema, Pruritus, Erythema, Lymphoma |
OMIM:254400 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Short middle phalanx of finger, Wide nasal bridge, Fused cervical vertebrae, Anal atresia, Thorac... |
OMIM:309620 |
3Mc Syndrome 1 |
|
Omphalocele, Cleft palate, Supernumerary nipple, Radioulnar synostosis, Conductive hearing impair... |
OMIM:257920 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Micrognathia, Brachycephaly, Long philtrum, Short nose, Long eyelashes, Wide nasal... |
OMIM:618577 |
Distal Trisomy 18Q |
|
Carious teeth, Short nose, Abnormal hair pattern, Iris coloboma, Deviation of finger, Camptodacty... |
ORPHA:1716 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/hypoplasia of the humerus, Omphalocele, Abnormality of femur morphology, Abnormality of t... |
ORPHA:2141 |
Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Fine hair, Tapered finger, Sparse and thin ey... |
OMIM:616202 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Cleft palate, Triphalangeal thumb, Abnormal form of the vertebral bodies, Abnormal... |
ORPHA:794 |
Split-Hand/Foot Malformation 6 |
|
Toe syndactyly, Hand oligodactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot |
OMIM:225300 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Esophagitis, Hepatic steatosis, Dermal translucency, Hepatosplenomegaly, Oligoh... |
ORPHA:541423 |
Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Smooth philtrum, Short nose, Abnormal hair pattern, Finger syndactyly, Delayed ske... |
ORPHA:1786 |
Stuve-Wiedemann Syndrome 1 |
|
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Short nose, Malar flatteni... |
OMIM:601559 |
Achondrogenesis Type 1A |
|
Micrognathia, Long philtrum, Multiple rib fractures, Short nose, Short thorax, Frontal bossing, S... |
ORPHA:93299 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Cleft palate, Triphalangeal thumb, Ectopic anus, Trigonocephaly, Microtia, Arachnodactyly, Low-se... |
ORPHA:2994 |
Whistling Face Syndrome, Recessive Form |
|
Talipes equinovarus, Microglossia, Malar flattening, Whistling appearance, Telecanthus, Short pal... |
OMIM:277720 |
Banki Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormality of the met... |
ORPHA:1228 |
Hallermann-Streiff Syndrome |
|
Sparse eyelashes, Malar flattening, Iris coloboma, Low-set ears, Sparse and thin eyebrow, Sparse ... |
OMIM:234100 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Telecanthus, Joint contracture of the hand, Short palpebral fissure, Thin upper lip vermilion, Ca... |
OMIM:612513 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Cleft palate, Smooth philtrum, Laterally extended eyebrow, Hirsutism, Hooded eyelid, Proximal pla... |
OMIM:610759 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Cleft palate, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Low poste... |
ORPHA:2916 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Depressed nasal ridge, Micrognathia, Death in infancy, Abnormality of the calcaneus, Short philtr... |
ORPHA:163966 |
Achondrogenesis Type 1B |
|
Micrognathia, Talipes equinovarus, Long philtrum, Short nose, Short thorax, Frontal bossing, Femo... |
ORPHA:93298 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Short middle phalanx of finger, Abnormal dental enamel morphology, Finger syndactyly, Turricephal... |
ORPHA:1005 |
C Syndrome |
|
Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature, Cleft palate, Smooth philtrum,... |
ORPHA:1308 |
Recombinant Chromosome 8 Syndrome |
|
Midface retrusion, Malar flattening, Joint contracture of the hand, Hearing impairment, Thin uppe... |
OMIM:179613 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Pectus excavatum, Spindle-shaped finger, Abnormal vertebral morphology, Wide nasal bridge, Delaye... |
ORPHA:166024 |
Arthrogryposis And Ectodermal Dysplasia |
|
Cleft palate, Trichiasis, Oligodontia, Abnormal dental enamel morphology, Joint contracture of th... |
OMIM:601701 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome |
|
Cleft palate, Microdontia of primary teeth, Sparse eyelashes, Talipes equinovarus, Short nose, Lo... |
OMIM:213980 |
Kagami-Ogata Syndrome |
|
Omphalocele, Diastasis recti, Anteverted nares, Large placenta, Micrognathia, Depressed nasal bri... |
ORPHA:254519 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Cleft palate, Hip contracture, Talipes equinovarus, Anteverted nares, Microretrognathia, Radial d... |
OMIM:301041 |
Classic Mycosis Fungoides |
|
Eczema, Pruritus, Edema, Erythema, Alopecia, Skin rash, Hyperkeratosis, Dry skin, Skin ulcer |
ORPHA:2584 |
Acromicric Dysplasia |
|
Thick lower lip vermilion, Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Lo... |
ORPHA:969 |
Fontaine Progeroid Syndrome |
|
Smooth philtrum, Hypoplastic nipples, Death in infancy, Oligodontia, Neonatal death, Dermal trans... |
OMIM:612289 |
Holoprosencephaly |
|
Omphalocele, Abnormal form of the vertebral bodies, Iris coloboma, Aplasia/Hypoplasia involving t... |
ORPHA:2162 |
Terminal Osseous Dysplasia |
|
Cleft palate, Malar flattening, Abnormal bone structure, Telecanthus, Iris coloboma, Toe clinodac... |
OMIM:300244 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Cleft palate, Hip contracture, Hearing impairment, Camptodactyly, Elbow flexion contracture, Vert... |
OMIM:178110 |
Isotretinoin-Like Syndrome |
|
Micrognathia, Cleft palate, Thin anteverted nares, Upslanted palpebral fissure, Anotia, Bilateral... |
ORPHA:2306 |
Cardiofaciocutaneous Syndrome |
|
Abnormality of the ulna, Functional abnormality of the gastrointestinal tract, Brittle hair, Shor... |
ORPHA:1340 |
Acrootoocular Syndrome |
|
Prominent calcaneus, Delayed eruption of teeth, Delayed skeletal maturation, Short toe, Atresia o... |
ORPHA:2980 |
Gabriele-De Vries Syndrome |
|
Distal arthrogryposis, Hallux valgus, Malar flattening, Telecanthus, Bulbous nose, Sydney crease,... |
ORPHA:506358 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Plagiocephaly, Highly arched eyebrow, Cleft palate, Diastema, Microdontia, Tal... |
OMIM:605282 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Pruritus, Nail dystrophy, Palmar hyperkeratosis, Hyperkeratosis, Plantar hyperkeratosis |
ORPHA:79399 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Underdeveloped nasal alae, Toe syndactyly, Conductive hearing impairment, Congenital stapes ankyl... |
OMIM:184460 |
Pseudoachondroplasia |
|
Genu varum, Metaphyseal irregularity, Abnormal form of the vertebral bodies, Abnormality of femor... |
ORPHA:750 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... |
OMIM:608106 |
48,Xxxy Syndrome |
|
Carious teeth, Cleft palate, Talipes equinovarus, Chronic otitis media, Abnormal dental enamel mo... |
ORPHA:96263 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Deviation of the 5th toe, Oligodontia, Short nose, Slender finger, Thin upper lip vermilion, Ante... |
ORPHA:391408 |
German Syndrome |
|
Micrognathia, High palate, Depressed nasal bridge, Dysphagia, Brachycephaly, Synophrys, Wide nasa... |
ORPHA:2077 |
Mullegama-Klein-Martinez Syndrome |
|
Cleft palate, Smooth philtrum, Curly eyelashes, Cleft lip, Bulbous nose, Thin upper lip vermilion... |
OMIM:301022 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
High palate, Brachycephaly, Upslanted palpebral fissure, Epicanthus, Narrow mouth, Cataract, Retr... |
ORPHA:2528 |
Adenylosuccinate Lyase Deficiency |
|
Flat occiput, Brachycephaly, Prominent metopic ridge, Short nose, Anteverted nares, Microcephaly |
ORPHA:46 |
Basal Cell Nevus Syndrome |
|
Cleft palate, Abnormal sternum morphology, Short ribs, Iris coloboma, Short 4th metacarpal, Odont... |
OMIM:109400 |
Epidermolysis Bullosa Junctionalis With Pyloric Atresia |
|
Death in infancy, Congenital pyloric atresia, Ectropion, Atrophic scars, Nail dystrophy, Arthrogr... |
OMIM:226730 |
Sweeney-Cox Syndrome |
|
Cleft palate, Overfolded helix, Hearing impairment, Low-set ears, Choanal atresia, Underdeveloped... |
OMIM:617746 |
Donnai-Barrow Syndrome |
|
Omphalocele, Depressed nasal bridge, Congenital diaphragmatic hernia, Short nose, Posteriorly rot... |
ORPHA:2143 |
Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature, Cleft palate, Death in infancy... |
ORPHA:373 |
15Q11Q13 Microduplication Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Finger syndactyly, Macrocephaly, Clinodactyly of the ... |
ORPHA:238446 |
Quinquaud Folliculitis Decalvans |
|
Recurrent skin infections, Pustule, Erythema |
ORPHA:346 |
Otodental Syndrome |
|
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Iris coloboma, Perio... |
ORPHA:2791 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Hernia of the abdominal wall, Abnormal palate morphology, Micrognathia, Mesomelia, Tooth agenesis... |
ORPHA:1277 |
Frontometaphyseal Dysplasia 2 |
|
Pyloric stenosis, Cleft palate, Hirsutism, Hip contracture, Talipes equinovarus, Pierre-Robin seq... |
OMIM:617137 |
Autosomal Recessive Robinow Syndrome |
|
Broad hallux phalanx, Death in infancy, Chronic otitis media, Short nose, Finger syndactyly, Hear... |
ORPHA:1507 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Hirsutism, Proximal placement of thumb, Low hanging columella, Sparse hair, Gingival overgrowth, ... |
OMIM:212066 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the skin, Neoplasm of the rectum, Meningioma, Adenomatous colonic polyposis, Endometr... |
ORPHA:454840 |
Renal Dysplasia-Limb Defects Syndrome |
|
Fibular aplasia, Micrognathia, Convex nasal ridge, Depressed nasal bridge, High palate, Talipes e... |
OMIM:266910 |
Odontochondrodysplasia |
|
Death in infancy, Depressed nasal bridge, Cone-shaped epiphysis, Bowing of the long bones, Short ... |
ORPHA:166272 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormality of the vertebral column, Omphalocele, Eczema, Abnormal hair morphology, Corneal erosi... |
ORPHA:2273 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Thick lower lip vermilion, Depressed nasal bridge, Wide mouth, Macroglossia, Mandibular prognathi... |
OMIM:300354 |
Hutchinson-Gilford Progeria Syndrome |
|
Narrow nasal tip, Prominent umbilicus, Dystrophic toenail, Delayed eruption of teeth, Reduced bon... |
ORPHA:740 |
Multiple Pterygium Syndrome, X-Linked |
|
Depressed nasal ridge, Micrognathia, Cleft palate, Vertebral fusion, Thin ribs, Short finger, Cle... |
OMIM:312150 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
2-3 toe syndactyly, Cleft palate, Smooth philtrum, Morphological abnormality of the gastrointesti... |
ORPHA:404440 |
Rafiq Syndrome |
|
Smooth philtrum, Malar flattening, Bulbous nose, Thin upper lip vermilion, Low-set ears, Prominen... |
OMIM:614202 |
Pyle Disease |
|
Carious teeth, Metaphyseal dysplasia, Thickened calvaria, Hypoplastic frontal sinuses, Metaphysea... |
OMIM:265900 |
Xeroderma Pigmentosum, Complementation Group E |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma |
OMIM:278740 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short middle phalanx of finger, Abnormal sacrum morphology, Fused cervical vertebrae, Anal atresi... |
ORPHA:1436 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Cleft palate, Abnormal form of the vertebral bodies, Hal... |
ORPHA:2635 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Micrognathia, Convex nasal ridge, Osteoporosis, Lipodystrophy, Kyphosis, Sensorineural hearing im... |
OMIM:615381 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Conductive hearing impairment, Abnormal palate morphology, Convex nasal ridge, Brachycephaly, Pto... |
ORPHA:93262 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormality of the vertebral column, Cleft palate, Polydactyly, Stillbirth, Abnormal thorax morph... |
ORPHA:294975 |
Kennerknecht Syndrome |
|
Toe syndactyly, Hypodontia, Convex nasal ridge, High palate, Abnormal joint morphology, Omphaloce... |
OMIM:600908 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Cleft palate, Smooth philtrum, Talipes equinovarus, Bulbous nose, Long hallux, Anteverted nares, ... |
OMIM:309583 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormal ilium morphology, Micrognathia, Metaphyseal dysplasia, Short iliac bones, Irregular acet... |
ORPHA:93316 |
49,Xxxxy Syndrome |
|
Carious teeth, Cleft palate, Talipes equinovarus, Chronic otitis media, Abnormal dental enamel mo... |
ORPHA:96264 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short 5th metacarpal, Pierre-Robin sequence, Short nose, 11 pairs of ribs, Anterior open-bite mal... |
OMIM:617877 |
Anauxetic Dysplasia 3 |
|
Short middle phalanx of finger, Oligodontia, Hip subluxation, Femoral bowing, Broad middle phalan... |
OMIM:618853 |
Hydrocephalus With Associated Malformations |
|
Short lower limbs, Micrognathia, Tibial bowing, Omphalocele, Lower limb undergrowth, Intestinal m... |
OMIM:236640 |
Duane Retraction Syndrome |
|
Cleft palate, Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, Hypoplas... |
ORPHA:233 |
Achondrogenesis |
|
Micrognathia, Long philtrum, Abnormality of bone mineral density, Short nose, Short thorax, Ingui... |
ORPHA:932 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Carious teeth, Abnormal palate morphology, Thick lower lip vermilion, Abnormal intervertebral dis... |
ORPHA:2701 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Esophageal neoplasm, Uterine leiomyoma, Multiple cutaneous leiomyomas, Pruritus, Uterine leiomyos... |
ORPHA:523 |
Donnai-Barrow Syndrome |
|
Omphalocele, Broad nasal tip, Depressed nasal bridge, Hypoplasia of the iris, Congenital diaphrag... |
OMIM:222448 |
Cooper-Jabs Syndrome |
|
Conductive hearing impairment, Brachycephaly, Anteriorly placed anus, Congenital diaphragmatic he... |
ORPHA:1488 |
Kaufman Oculocerebrofacial Syndrome |
|
Carious teeth, Smooth philtrum, Short nose, Telecanthus, Thin upper lip vermilion, Anteverted nar... |
OMIM:244450 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Cubitus valgus, Short thorax, Curly eyelashes, Aplasia/Hypoplasia involving the pelvis, Delayed s... |
ORPHA:163654 |
Cartilage-Hair Hypoplasia |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Metaphyseal dysplasia, Abnormal form of the... |
ORPHA:175 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Carious teeth, Cleft palate, Hip contracture, Pierre-Robin sequence, Short thorax, Hearing impair... |
OMIM:618363 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Short nose, Hearing impairment, Syndactyly, Camptodactyly, Anteverted nares, Broad palm, High pal... |
OMIM:227330 |
Even-Plus Syndrome |
|
Atopic dermatitis, Depressed nasal ridge, Hypodontia, High palate, Highly arched eyebrow, Coronal... |
OMIM:616854 |
Fetal Trimethadione Syndrome |
|
Micrognathia, High palate, Depressed nasal bridge, Brachycephaly, Ptosis, Overfolded helix, Short... |
ORPHA:1913 |
Mesomelia-Synostoses Syndrome |
|
Abnormality of the knee, Malar flattening, Telecanthus, Hearing impairment, Synostosis of joints,... |
ORPHA:2496 |
Split-Hand/Foot Malformation 2 |
|
Split hand, Finger syndactyly, Short metacarpal, Short phalanx of finger, Split foot |
OMIM:313350 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Pectus excavatum, Cleft palate, Palmoplantar cutis laxa, Brachycephaly, Mandibular prognathia, Cl... |
OMIM:268850 |