Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Allergic rhinitis, Absent facial h... |
ORPHA:90368 |
Bathing Suit Ichthyosis |
|
Autoamputation of digits, Parakeratosis, Alopecia, Thickened skin, Erythroderma, Palmoplantar hyp... |
ORPHA:100976 |
Netherton Syndrome |
|
Hypernatremic dehydration, Sparse scalp hair, Villous atrophy, Parakeratosis, Brittle hair, Aller... |
OMIM:256500 |
Bazex Syndrome |
|
Parakeratosis, Edema, Yellow nails, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling s... |
ORPHA:166113 |
Coffin-Siris Syndrome 11 |
|
Depressed nasal bridge, Cleft soft palate, Esophageal atresia, Bulbous nose, Small hand, Low post... |
OMIM:618779 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Erythema, Leukonychia, Tooth agenesis, Hyperkeratosis, Palmoplantar kera... |
OMIM:615821 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Polyhydramnios, Bilateral cryptorchidi... |
OMIM:619859 |
Vulvovaginal Gingival Syndrome |
|
Parakeratosis, Pruritus, Erythema, Oral ulcer, Gingivitis, Abnormality of female external genitalia |
ORPHA:83453 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Scaling skin on fingertip, Alopecia, Hypergranulosis, Honeycomb palmoplantar hyper... |
ORPHA:79395 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Parakeratosis, Congenital hip dislocation, Single transverse palmar crease... |
OMIM:308050 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cr... |
ORPHA:2863 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand... |
ORPHA:64745 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Hyperkeratosis, Palmoplantar hyperkeratosis, Abnormality of the dentition |
OMIM:617756 |
Distal Deletion 10P |
|
Hypoplasia of penis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnormality of the elbo... |
ORPHA:1580 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... |
OMIM:601952 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Alopecia, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform eryt... |
OMIM:242300 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Autoamputation of digits, Parakeratosis, Pruritus, Hyperparakeratosis, ... |
OMIM:614594 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Oral mucosal blisters, Pruritus, Palmoplantar hyperkeratosis, Nail dystrophy, Eryt... |
ORPHA:158681 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Aganglionic megacolon, Anteverted nares, Esophageal atresia... |
ORPHA:59315 |
Anonychia With Flexural Pigmentation |
|
Abnormal skin morphology of the palm, Carious teeth, Abnormal hair morphology, Hyperkeratosis, Fo... |
ORPHA:69125 |
Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Choanal ste... |
OMIM:101200 |
15Q24 Microdeletion Syndrome |
|
Proximal placement of thumb, Microphallus, High anterior hairline, Hypospadias, Depressed nasal b... |
ORPHA:94065 |
Tylosis With Esophageal Cancer |
|
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Follicular hyperkeratos... |
OMIM:148500 |
Apert Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, De... |
ORPHA:87 |
Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Pustule, Erythema, Furrowed tongue, Nail dystrophy, Geogr... |
OMIM:614204 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Micrognathia, Synophrys, Downturned corners of mouth, High palate, Gastroesophageal reflux, Antev... |
OMIM:613792 |
Olmsted Syndrome 2 |
|
Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke... |
OMIM:619208 |
Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, Esophageal... |
ORPHA:1305 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Macrodontia, Hypospadias, Prominent nose, Abnormal thumb... |
ORPHA:3242 |
Trisomy 18 |
|
Bilateral single transverse palmar creases, Microretrognathia, Spina bifida, Esophageal atresia, ... |
ORPHA:3380 |
Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin, Generalized hirsutism, Tapered finger |
ORPHA:2812 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Finger joint ... |
OMIM:615225 |
Aquagenic Palmoplantar Keratoderma |
|
Abnormal phalangeal joint morphology of the hand, Edema, Excessive skin wrinkling on dorsum of ha... |
ORPHA:498359 |
Fryns Syndrome |
|
Bifid scrotum, Tented upper lip vermilion, Single transverse palmar crease, Proximal placement of... |
OMIM:229850 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Highly arched eyebrow, Bifid nasal tip, Synophrys, Depressed nasal ridge, A... |
OMIM:616854 |
Distal Duplication 15Q |
|
Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Cryptorchidism, Do... |
ORPHA:1707 |
Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Abnormal external genitalia, Polyhydramnios, Narrow mouth, Abn... |
ORPHA:3469 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Erythroderma, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Generalized ... |
OMIM:612281 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathia, Preaxial hand polyd... |
OMIM:610536 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Abnormal hair morphology, Erythema, Hyperparakeratosis, Palmoplantar hyperkeratosis, Congenital b... |
OMIM:607602 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera... |
OMIM:300918 |
Blepharocheilodontic Syndrome 1 |
|
Choanal atresia, Cleft upper lip, Conical tooth, High anterior hairline, Cutaneous syndactyly, Ne... |
OMIM:119580 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Proximal placement of thumb, Polyhydramnios, Absent radius, Esophageal atresia, Tr... |
OMIM:314390 |
Non-Syndromic Posterior Hypospadias |
|
Bifid scrotum, Esophageal atresia, Cryptorchidism, Ventral shortening of foreskin, Cleft palate, ... |
ORPHA:95706 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly |
OMIM:614526 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Choanal atresia, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fi... |
OMIM:619227 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Autoamputation of digits, Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperke... |
ORPHA:79503 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, External genital hypoplasia, Proximal placement of thumb, Absent t... |
OMIM:613390 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:617574 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Depressed nasal bridge, Bulbous nose, Low anterior hairline, Absent lower eyelashes, Sparse hair,... |
OMIM:227260 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Cleft palate, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morph... |
ORPHA:294975 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin |
OMIM:618527 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin |
OMIM:602723 |
Sweeney-Cox Syndrome |
|
Polyhydramnios, Micrognathia, Bilateral cryptorchidism, Low anterior hairline, High palate, Short... |
OMIM:617746 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Abnormal epiphysis morphology, Anal atresia, Abnormal femur morphology, Lower limb undergrowth |
ORPHA:2310 |
Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Anal stenosis, Aganglionic megacolon, Sparse facial hair, Sparse eyelashes... |
OMIM:250250 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, ... |
OMIM:619148 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Palmar hyperlinearity, Palmoplantar keratoderma, Congenital nonbullous ichthyosifo... |
OMIM:604777 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Parakeratosis, Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Pruritus, Oligodontia, Hyp... |
OMIM:607626 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis, Nail dystrophy |
OMIM:175900 |
Keratoderma Hereditarium Mutilans |
|
Autoamputation of digits, Alopecia, Hypogonadotropic hypogonadism, Honeycomb palmoplantar hyperke... |
ORPHA:494 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Palmoplantar blistering, Hyperkeratosis |
OMIM:131800 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Anteverted nares, Depressed nasal bri... |
OMIM:616809 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Absent thumb, Absent radius, Esophageal atresia, Micrognathia, Tracheoesophag... |
OMIM:614083 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal finger morphology, Gastroesophageal reflux, Phocomelia, Microgastria, Aplastic clavicle,... |
ORPHA:2538 |
Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis |
ORPHA:139414 |
Opitz-Kaveggia Syndrome |
|
Dental crowding, Single transverse palmar crease, Prominent nose, Micrognathia, Anteriorly placed... |
OMIM:305450 |
Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Porokeratosis |
ORPHA:735 |
Distal Deletion 12Q |
|
Single transverse palmar crease, Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the mid... |
ORPHA:96149 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Generalized hirsutism |
ORPHA:2297 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis |
OMIM:101900 |
Mosaic Trisomy 14 |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Anteverted nares, Prominent nasal brid... |
ORPHA:1703 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Esophageal atresia, Cryptorchidism, Anosmia, Tracheoesophageal fistula, Clef... |
ORPHA:3157 |
Blepharo-Cheilo-Odontic Syndrome |
|
Abnormal hair quantity, Finger syndactyly, Conical tooth, Carious teeth, Bilateral cleft lip and ... |
ORPHA:1997 |
White Sponge Nevus 2 |
|
Hyperparakeratosis, Edema |
OMIM:615785 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Hypergranulosis, Palmoplantar hyperker... |
OMIM:615598 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Redundant skin, Highly arched eyebrow, Abnormal hair pattern, Abnormal sa... |
ORPHA:1807 |
Feingold Syndrome 1 |
|
Jejunal atresia, Anteverted nares, Polyhydramnios, Micrognathia, Short thumb, Short toe, 4-5 toe ... |
OMIM:164280 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Oral mucosal blisters, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar bliste... |
ORPHA:89838 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Camptodactyly of finger, Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperker... |
OMIM:212360 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Micrope... |
OMIM:200990 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Cleft palate, Low posterior hairline, Abnormal shoulder morphology, Ectopic anus, W... |
ORPHA:2345 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Hypergonadotropic hypogonadism, Absent thumb, Esophageal atresia, Tracheoesopha... |
OMIM:300514 |
Schisis Association |
|
Encephalocele, Micromelia, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, Un... |
ORPHA:63862 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis |
OMIM:618339 |
Fg Syndrome Type 1 |
|
Dental crowding, Single transverse palmar crease, Prominent nose, Micrognathia, Fused teeth, High... |
ORPHA:93932 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Death in infancy, Polyhydramnios, Oral mucosal blisters, Esophageal atresia, Congenital pyloric a... |
OMIM:226730 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
Feingold Syndrome 2 |
|
Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyly, Intestinal atresia, Shor... |
OMIM:614326 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Abnormal soft palate morph... |
ORPHA:884 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Duplication involving bones of the feet, Anal atresia |
OMIM:246000 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to... |
ORPHA:989 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ... |
ORPHA:79151 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Abnormality of the dentition, Oral mucosal blisters, Pruritus, Hyperkerat... |
ORPHA:79399 |
3C Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Death in infancy, Hypospadias, Intestinal malrotation, De... |
ORPHA:7 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro... |
ORPHA:93259 |
Methimazole Embryofetopathy |
|
Hypospadias, Choanal atresia, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula |
ORPHA:1923 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Hy... |
ORPHA:2879 |
Trisomy 12P |
|
Thick eyebrow, Supernumerary nipple, Micrognathia, Wide nasal bridge, Cleft palate, Downturned co... |
ORPHA:1699 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Ulerythema Ophryogenesis |
|
Acne, Miscarriage, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, C... |
ORPHA:3406 |
Trisomy 1Q |
|
Microretrognathia, Wide nose, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Small scro... |
ORPHA:261344 |
Hadziselimovic Syndrome |
|
Anteverted nares, Prominent nasal bridge, Thick lower lip vermilion, Low anterior hairline, High ... |
OMIM:612946 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Death in infancy, Hypoplasia of penis, Alopecia, Hypospadias, Abnormal... |
ORPHA:2315 |
Erythrokeratodermia Variabilis |
|
Alopecia, Skin rash, Tapered finger, Abnormal hair morphology, Erythema, Patchy palmoplantar hype... |
ORPHA:317 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Smooth philtrum, Medial flaring of the eyebrow, Arachnodactyly, Sandal gap, Intestinal malrotatio... |
OMIM:617602 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia... |
OMIM:616300 |
Chromomycosis |
|
Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Hyperparakeratosis, Hyperkerato... |
ORPHA:182 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Down Syndrome |
|
Sandal gap, Aganglionic megacolon, Depressed nasal bridge, Protruding tongue, Abnormality of the ... |
ORPHA:870 |
Arthrogryposis, Distal, Type 1C |
|
Pursed lips, Hip contracture, Rocker bottom foot, Camptodactyly of finger, Shoulder flexion contr... |
OMIM:619110 |
Feingold Syndrome Type 1 |
|
Toe syndactyly, Jejunal atresia, Micrognathia, Short middle phalanx of the 2nd finger, Short thum... |
ORPHA:391641 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Genu valgum, Anal atresia, Abnormal palate morp... |
ORPHA:1381 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Overlapping toe, Arachnod... |
ORPHA:83617 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Micrognathia, Crowded maxillary incisors, Cryptorchidism, Abnormal femur morphology, Narrow palat... |
ORPHA:2063 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Maternal Phenylketonuria |
|
Anteverted nares, Bifid distal phalanx of the thumb, Micrognathia, Esophageal atresia, Wide nasal... |
ORPHA:2209 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Depressed nasal bridge, Hypospadias, Micrognathia, Missing ribs, Cleft palate, Low po... |
OMIM:220210 |
Anus, Imperforate |
|
Ectopic anus, Hypospadias, Anal atresia |
OMIM:301800 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly... |
ORPHA:2008 |
Pallister-Hall Syndrome |
|
Anteriorly placed anus, Neonatal death, Micropenis, Distal shortening of limbs, Syndactyly, Mesoa... |
OMIM:146510 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Sandal gap, Depressed nasal bridge, Micromelia, Micrognathia, Bifid humerus, Cl... |
OMIM:256050 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Spina bifida, Polyhydramnios, Micrognathia, Esophageal atresia, Cryptorchi... |
ORPHA:3412 |
Fryns Syndrome |
|
Tented upper lip vermilion, Polyhydramnios, Micrognathia, High palate, Gastroesophageal reflux, C... |
ORPHA:2059 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... |
OMIM:249710 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Lipoid Proteinosis |
|
Nasal polyposis, Acne, Abnormal oral mucosa morphology, Pustule, Thickened skin, Abnormality of t... |
ORPHA:530 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H... |
OMIM:613091 |
Epidermolytic Palmoplantar Keratoderma |
|
Interphalangeal joint contracture of finger, Hypergranulosis, Epidermal hyperkeratosis, Diffuse p... |
ORPHA:2199 |
Distal Deletion 10Q |
|
Single transverse palmar crease, Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Clin... |
ORPHA:96148 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Convex nasal ridge, Abnorm... |
ORPHA:1277 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Metaphyseal dysplasia, Epiphyseal dysplasia, Death in infancy, Depressed nasal bridge, Eosinophil... |
OMIM:617425 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro... |
ORPHA:93260 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Cleft lip, Generalized keratosi... |
ORPHA:2890 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Single transverse palmar crease, Clitoral hypoplasia, Cutaneous finger syndactyly, Scaling skin, ... |
OMIM:618419 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Wide ... |
OMIM:614078 |
Van Esch-O'Driscoll Syndrome |
|
Hypogonadotropic hypogonadism, Depressed nasal bridge, Esophageal atresia, Tracheoesophageal fist... |
OMIM:301030 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, 2-5 finger cutaneous syndactyly, Toe syndactyly, Small hypothenar eminence, Ab... |
ORPHA:3246 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Smooth philtrum, Overlapping toe, Hypospadias, Endometriosis, Abnormality of the dentition, Cario... |
ORPHA:363444 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... |
ORPHA:2753 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Xerostomia, T... |
OMIM:129900 |
Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... |
ORPHA:454 |
Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Cubitus valgus, Humeroradial synost... |
OMIM:612961 |
Vacterl/Vater Association |
|
Bifid scrotum, Finger syndactyly, Occipital encephalocele, Hypoplasia of penis, Hypospadias, Poly... |
ORPHA:887 |
Neonatal Lupus Erythematosus |
|
Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash |
ORPHA:398124 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Micromelia, Micrognathia, Hydrops fetalis, Short palm, Depressed nasal bridg... |
ORPHA:93271 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Redundant neck skin, Dental crowding, Congenital hip dislocation, Micr... |
ORPHA:96170 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratos... |
ORPHA:505 |
Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Cleft palate, High palate, Clinodacty... |
ORPHA:376 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Smooth philtrum, Depressed nasal bridge, Choanal atresia, Postaxial polydactyly, Tapered finger, ... |
OMIM:300968 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, 2-3 toe cutaneous syndactyly, Microdontia, Sparse hair, Bifid uvula, Syndactyly, H... |
OMIM:129400 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Rubinstein-Taybi Syndrome 2 |
|
Prominent nose, Micrognathia, High palate, Prominent fingertip pads, Syndactyly, Broad hallux, Hi... |
OMIM:613684 |
Lowe-Kohn-Cohen Syndrome |
|
Anorectal anomaly, Anal atresia |
ORPHA:2408 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... |
ORPHA:2496 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Tented upper lip vermilion, Dental crowding, Rocker bottom foot, Depressed nasal bridg... |
OMIM:612582 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Death in infancy, Toe syndactyly, Median cleft lip, Depressed nasal brid... |
OMIM:241800 |
Dihydropyrimidinase Deficiency |
|
Short phalanx of finger, Talipes equinovarus, Anal atresia |
OMIM:222748 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly, Male hypogonadism, Azoospermia |
OMIM:241000 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Hyperkeratosis, ... |
ORPHA:90280 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Bilateral cryptorchidism, Hypoplastic iliac wing, Micropenis, Short phalanx of fing... |
OMIM:263650 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Prolidase Deficiency |
|
Arachnodactyly, Depressed nasal bridge, Micrognathia, Carious teeth, Pruritus, Erythema, Depresse... |
ORPHA:742 |
Emanuel Syndrome |
|
Chronic oral candidiasis, Congenital hip dislocation, Dental crowding, Intestinal malrotation, De... |
OMIM:609029 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Intestinal malrotation, Cryptorchidism, Oligohydramnios, Urogenital s... |
ORPHA:2970 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b... |
ORPHA:1225 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Polyhydramnios, Micrognathia, Osteopathia striata, High palate, Gastroesophageal... |
OMIM:300373 |
Cornelia De Lange Syndrome 5 |
|
Proximal placement of thumb, Micrognathia, Synophrys, Low anterior hairline, Downturned corners o... |
OMIM:300882 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Esophageal atresia, Cryptorchidism, Tracheoes... |
ORPHA:77298 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal metacarpal morphol... |
ORPHA:2631 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Anteverted nares, Prominent nose, Micrognathia, Depressed nasal r... |
OMIM:154230 |
Pontocerebellar Hypoplasia, Type 11 |
|
Bulbous nose, Talipes equinovarus, Anal atresia, Dysphagia |
OMIM:617695 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent... |
ORPHA:1350 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Hypoplastic sweat glan... |
OMIM:617337 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Aplasia of the pectoralis major muscle, Abnormal finger morphology, Abnormal... |
ORPHA:3138 |
Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia, Absent thumb |
OMIM:615272 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Anal atresia, Oligohydramnios |
OMIM:274265 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Abnormality of the philtrum, Sparse eyelashes, Cleft upper lip, Sparse eyebrow, Abn... |
OMIM:225060 |
Cat-Eye Syndrome (Type I) |
|
Anal atresia, Micrognathia |
DECIPHER:42 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Thin upper lip vermilion, Palmoplantar keratoderma, Follicular hyperkeratosis, Congen... |
OMIM:613576 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chond... |
ORPHA:163966 |
Opitz Gbbb Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Abnormal nasopharynx morphology, Hypospadias, Antevert... |
OMIM:300000 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Highly arched eyebrow, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia... |
ORPHA:94066 |
Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Preaxial hand polydac... |
OMIM:227646 |
Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh... |
OMIM:300244 |
Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Preaxial polydactyly, Absent nasal bridge, Narrow greater sciatic notch, Neonatal d... |
OMIM:617925 |
Costello Syndrome |
|
Depressed nasal bridge, Abnormal dental enamel morphology, Redundant skin, Abnormality of the den... |
ORPHA:3071 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Highly arched eyebrow, Broad nasal tip, Thick lower lip vermilion, Genu varum, Wide n... |
OMIM:619451 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Tented upper lip vermilion, Broad hallux, Aganglionic megacolon, Broad nasal tip, ... |
OMIM:614749 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Hidrotic Ectodermal Dysplasia |
|
Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic papule, Absent eyebro... |
ORPHA:189 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... |
OMIM:617526 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Conical tooth, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Sparse hair, Mal... |
OMIM:618625 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... |
OMIM:617571 |
2Q32Q33 Microdeletion Syndrome |
|
Decreased testicular size, Broad hallux phalanx, Arachnodactyly, Dental crowding, Anteverted nare... |
ORPHA:251019 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Alopecia, Abnormal dental morphology, Camptodactyly of finger, Short thumb, Pa... |
ORPHA:2251 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
Classic Mycosis Fungoides |
|
Alopecia, Skin rash, Eczema, Edema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin |
ORPHA:2584 |
Meier-Gorlin Syndrome 7 |
|
Bowing of the legs, Anteriorly placed anus, High palate, Micropenis, Dislocated radial head, 2-4 ... |
OMIM:617063 |
Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Wide nose, Redundant skin, Underdeveloped nasal alae, Abnormal eyelash morphol... |
ORPHA:1252 |
Ramon Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat... |
ORPHA:3019 |
Charge Syndrome |
|
External genital hypoplasia, Abnormal palmar dermatoglyphics, Polyhydramnios, Micrognathia, Hand ... |
OMIM:214800 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Hypospadias, Micrognath... |
OMIM:601390 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, External genital hypoplasia, Hypergranulosis, Abnormal hair morphology, Short toe, Eryt... |
OMIM:242100 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Short middle phalanx of finger, Wide nasal bridge, Anal atresia |
OMIM:309620 |
Atelosteogenesis Type Ii |
|
Micromelia, Polyhydramnios, Micrognathia, Short phalanx of finger, Broad metacarpals, Hypoplastic... |
ORPHA:56304 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Micrognathia, Split hand, Oligohydramnios, Cleft palate, Webbed ne... |
ORPHA:2145 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr... |
OMIM:607323 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Abnormality of the... |
ORPHA:2994 |
Distal Deletion 13Q |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Anencephaly, Abnormal me... |
ORPHA:1590 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short middle phalanx of finger, Anal atresia, Brachydactyly |
ORPHA:1436 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Highly arched eyebrow, Mi... |
OMIM:600325 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Anteverted nares, Depressed nasal bridge, Polyhydramnios, Micrognathia, Short nose... |
OMIM:614080 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Hypospadias, Depressed nasal bri... |
OMIM:619736 |
Imagawa-Matsumoto Syndrome |
|
Wide nasal ridge, Cryptorchidism, Anteriorly placed anus, Large hands, Camptodactyly, Umbilical h... |
OMIM:618786 |
Anus, Imperforate |
|
Anal atresia |
OMIM:207500 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Micromelia, Anteverted nares, Genu valgum, High palate, Umbilical her... |
ORPHA:1035 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypospadias, Intestinal malrotation, Polyhydramnios, Nonimmune hydrops fetalis, Micrognathia, Eso... |
OMIM:265380 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Abnormality of upper lip vermillion, Sandal gap, Sydney crease, Abnormality of the... |
ORPHA:506358 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Absent eyebrow, Porokeratosis, Abnormal dental morphology, Abnormal dental enamel morphology, Tar... |
ORPHA:85199 |
Vater/Vacterl Association |
|
Syndactyly, Occipital encephalocele, Abnormal nasopharynx morphology, Hypospadias, Choanal atresi... |
OMIM:192350 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Fractured radius, Hypospadias, Anteverted nares, Decreased fibular diameter, Polyhyd... |
OMIM:616897 |
Craniofrontonasal Dysplasia |
|
Depressed nasal ridge, Orofacial cleft, High palate, Clinodactyly of the 5th finger, Finger synda... |
ORPHA:1520 |
Cat-Eye Syndrome |
|
Hip dysplasia, Anal atresia |
ORPHA:195 |
Osseous Heteroplasia, Progressive |
|
Limb undergrowth |
OMIM:166350 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Rhizomelia, Abnormality of the dentition, Dry skin, Epiphyseal stippling, Abnormal epip... |
ORPHA:177 |
Feingold Syndrome Type 2 |
|
Toe syndactyly, Jejunal atresia, Short thumb, Short middle phalanx of finger, Brachydactyly |
ORPHA:391646 |
C Syndrome |
|
Micromelia, Micrognathia, Clinodactyly, High palate, Thick anterior alveolar ridges, Dislocated r... |
OMIM:211750 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Natal tooth, Sandal gap, Alopecia totalis, Acantholysis, Widely spaced toes, Neonatal... |
OMIM:609638 |
Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Wide nose, Toe syndactyly, Hypospadias, Highly arched eyebrow, Short... |
ORPHA:2319 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Polyhydramnios, Edema, Micrognathia, Macroglossia, Short long bone, Flared elbow meta... |
ORPHA:1423 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate, High palate, Polyda... |
OMIM:300484 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Vaginal fistula, Hirsutism, Anal atresia, Low hanging columella |
OMIM:619318 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Nonimmune hydrops fetalis, Dumbbell-shaped long bone, Polyhydramnios, Advan... |
OMIM:269250 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Micromelia, Hydrops fetalis, Fused teeth, High palate, Sparse hair, Micro... |
OMIM:614091 |
Axial Mesodermal Dysplasia Spectrum |
|
Micrognathia, Missing ribs, Anorectal anomaly, Tracheoesophageal fistula, Gingival overgrowth, Ab... |
ORPHA:1834 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Esophageal stricture, Hyperkeratosis, Palmoplantar keratoderma, Hypodo... |
OMIM:616029 |
Moebius Syndrome |
|
Abnormal nasopharynx morphology, Micrognathia, High palate, Lower limb undergrowth, Micropenis, S... |
OMIM:157900 |
Harlequin Ichthyosis |
|
Depressed nasal ridge, Erythroderma, Dehydration, Hyperkeratosis, Congenital ichthyosiform erythr... |
ORPHA:457 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Anorectal anomaly, Gingival overgrowth, Tracheoesophageal fistula, Furrowed tongue, Fin... |
ORPHA:1839 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Thin upper lip vermilion, Clitoral hypertrophy, Toe syndactyly, Depressed nasal bridge, Wide nose... |
OMIM:300707 |
Lichen Planopilaris |
|
Alopecia, Pruritus, Skin ulcer, Hyperkeratosis, Abnormal intestine morphology, Neoplasm of the or... |
ORPHA:525 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Metaphyseal dysplasia, Anteverted nar... |
OMIM:600373 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormal hair quantity, Brachydactyly, Rhizomelia, Depressed nasal bridge, Acne, Micrognathia, Ab... |
ORPHA:3098 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Thin upper lip vermilion, Supernumerary nipple, Micrognathia, Precocious puberty, Cryptorchidism,... |
OMIM:619243 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, C... |
ORPHA:1865 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Aganglionic megacolon, Tarsal synostosis, Cryptorchidism, Postaxial hand polyd... |
ORPHA:2473 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Redundant skin, Lymphedema, High palate, Sparse hair, Dystrophic fingernails, Long ... |
ORPHA:1340 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Choanal atresia, Polyhydramnios, Cleft palate, Cutis laxa, Rectovaginal f... |
OMIM:270420 |
Pseudoachondroplasia |
|
Metaphyseal widening, Delayed epiphyseal ossification, Abnormal femoral epiphysis morphology, Sho... |
ORPHA:750 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, Synophrys, High palate, Gastroesophageal reflux, Prominent palatine r... |
ORPHA:280633 |
Distal 22Q11.2 Microduplication Syndrome |
|
Smooth philtrum, Branchial fistula, Wide nose, Toe syndactyly, Palpebral edema, Camptodactyly of ... |
ORPHA:261337 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Decreased testicular size, Anal atresia |
ORPHA:93950 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Abnormality of the elbow, Hyperkeratosis, Nail dystrophy, Abnormality of the wrist, Abn... |
ORPHA:89843 |
Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Dental crowding, Cleft ala nasi, Orofacial cleft, High palate... |
ORPHA:2052 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the nose, Polyhydramnios, Micrognathia, Missing ribs, Cryptorchidism... |
ORPHA:3301 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Cryptorchidism, Xerostomia, Talipes equinovarus, Anal atresia, Oligoh... |
OMIM:100100 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, External genital hypoplasia, Micrognathia, Ambiguous genitalia, female, ... |
OMIM:249000 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, High palate, Abnormality of the uterus, Triphalangeal th... |
ORPHA:84 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, External genital hypoplasia, Polydactyly, Hypogonadism, Micropenis, Brachydactyly |
OMIM:615983 |
Kbg Syndrome |
|
Thin upper lip vermilion, Macrodontia, Anteverted nares, Prominent nasal bridge, Underdeveloped n... |
ORPHA:2332 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Neuropathy, Hereditary Sensory, Type If |
|
Hallux valgus, Hyperkeratosis, Osteolytic defects of the phalanges of the hand, Metatarsal fracture |
OMIM:615632 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Micropenis, Anteverted nares, Cleft soft palate, Depr... |
OMIM:616331 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Polyhydramnios, Microgna... |
ORPHA:2166 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner... |
ORPHA:1507 |
Lamellar Ichthyosis |
|
Abnormality of the dentition, Pruritus, Lack of skin elasticity, Dehydration, Erythroderma, Hyper... |
ORPHA:313 |
Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Curly hair, Anteverted nares, Pierre-Robin sequence, Small hand, Wi... |
OMIM:619980 |
Atelosteogenesis, Type I |
|
Polyhydramnios, Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplas... |
OMIM:108720 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Leuko... |
OMIM:616295 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
Aarskog-Scott Syndrome |
|
Single transverse palmar crease, Orofacial cleft, Short palm, Clinodactyly of the 5th finger, Fin... |
ORPHA:915 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Cleft soft palate, Abnormality of the dentition, Anteverted nares, Broa... |
OMIM:618529 |
Diastrophic Dysplasia |
|
Bowing of the long bones, Depressed nasal bridge, Camptodactyly of finger, Proximal placement of ... |
ORPHA:628 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Choanal atresia, Elevated fecal osm... |
ORPHA:92050 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Micrognathia, Low anterior hairline, Gingival overgrowth, Short upper lip, Short philtrum, Promin... |
OMIM:616875 |
Moynahan Syndrome |
|
Sparse hair, Hyperkeratosis, Alopecia, Hypogonadism |
ORPHA:2574 |
Flynn-Aird Syndrome |
|
Carious teeth, Hyperkeratosis, Alopecia, Alopecia of scalp |
OMIM:136300 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Thick hair, Promi... |
ORPHA:2107 |
Filippi Syndrome |
|
Ambiguous genitalia, Single transverse palmar crease, Underdeveloped nasal alae, 2-4 toe syndacty... |
OMIM:272440 |
Acrofrontofacionasal Dysostosis |
|
Bifid scrotum, Hypospadias, Camptodactyly of finger, Micromelia, Broad nasal tip, Non-midline cle... |
ORPHA:1784 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
Cocaine Embryofetopathy |
|
Encephalocele, Intestinal atresia, Short distal phalanx of finger |
ORPHA:1911 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Schopf-Schulz-Passarge Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma, Hypodontia, Nail dystrophy, Sparse hair, Dry skin, Spar... |
OMIM:224750 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ... |
ORPHA:1352 |
Cdags Syndrome |
|
Sparse scalp hair, Porokeratosis, Hypospadias, Sparse eyelashes, Rectourethral fistula, Sparse ey... |
OMIM:603116 |
Maxillonasal Dysplasia |
|
Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the toes, Open bite, Depres... |
ORPHA:1248 |
De Sanctis-Cacchione Syndrome |
|
Bilateral coxa valga, Bilateral cryptorchidism, Parakeratosis, Gonadal hypoplasia |
OMIM:278800 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Esophageal stricture, Erythema, Abnormality of the elbow, Crusting erythematous dermatitis, Palmo... |
ORPHA:158673 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Abnormality of the dentition, Tapered finger, Precocious puberty, Thick lower lip ve... |
ORPHA:261652 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu... |
OMIM:602418 |
Acrodysostosis |
|
Micromelia, Short metatarsal, Depressed nasal ridge, Hypoplasia of the ulna, Short metacarpal, An... |
ORPHA:950 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Thin upper lip vermilion, External genital hypoplasia, F... |
ORPHA:3041 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Macrodactyly, Seborrheic dermatitis, 2-4 toe syndactyly, Hyperparakeratosis, Hydrocele testis, Fo... |
ORPHA:276280 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... |
ORPHA:2751 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Anteverted n... |
ORPHA:1427 |
Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ... |
OMIM:620107 |
Atrophoderma Vermiculata |
|
Pruritus, Erythema, Hyperkeratotic papule, Follicular hyperkeratosis |
ORPHA:79100 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Overlapping toe, High, narrow palate, Cryptorchidism, Bulbous nose, Inc... |
OMIM:618494 |
Caudal Regression Syndrome |
|
Missing ribs, Cryptorchidism, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, O... |
ORPHA:3027 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Small scrotum, Micrognathia, Synophrys, Palmoplantar hyperkeratosis, Sparse hair, Dystrophic fing... |
ORPHA:3253 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical... |
OMIM:613573 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postaxial polydactyly, Cario... |
OMIM:617102 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Abnormal dental morphology, Anteverted nares, Slow-growing hair, Abnormal... |
ORPHA:238468 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Patchy alopecia, Thickened skin |
OMIM:247100 |
Leopard Syndrome 3 |
|
Curly hair, Depressed nasal bridge, Epidermal hyperkeratosis, Low posterior hairline, Hyperkerato... |
OMIM:613707 |
Ring Chromosome 13 Syndrome |
|
Bifid scrotum, Aplasia/Hypoplasia of the thumb, Alopecia, Hypospadias, Anteverted nares, Depresse... |
ORPHA:96176 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Micrognathia, High palate, Enlarged ovaries, Hypospadias, Anteverted nares, Cleft ... |
ORPHA:2745 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Broad nasal tip, Cleft hard palate, Micrognathia... |
ORPHA:166016 |
Gastroschisis |
|
Intestinal atresia |
ORPHA:2368 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnorm... |
ORPHA:3429 |
Fanconi Anemia, Complementation Group D1 |
|
Short thumb, Anal atresia |
OMIM:605724 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Sandal gap, Depressed nasal bridge, Short hallux, Proximal placement of... |
ORPHA:90650 |
Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Micromelia, Abnormal thumb morpholo... |
ORPHA:1597 |
Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... |
OMIM:206920 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius,... |
ORPHA:2476 |
Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology, Erythema, Hyperkeratosis, Ichthyosis, Dry skin |
ORPHA:816 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... |
OMIM:218600 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, 11 pairs of ribs, Cleft upper lip, Cryptorchidism, Postaxial hand polydactyly, 2-3... |
OMIM:264480 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... |
DECIPHER:46 |
Proteus Syndrome |
|
Hyperkeratosis, Open mouth, Depressed nasal bridge |
OMIM:176920 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Polyhydramnio... |
ORPHA:85166 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Intestinal obstruction, Brittle hair, Trichoschisis, Malabsorption, Trichorrhex... |
OMIM:601675 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Small scrotum, Aplasia of the 3rd metacarpal, Breast hypoplasia, Aplasia of the ... |
OMIM:181450 |
Omodysplasia 2 |
|
Tented upper lip vermilion, Micrognathia, Clitoral hypoplasia, Limited elbow flexion, Gastroesoph... |
OMIM:164745 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Abnormality of radial epiphyses, Arthralgia of the hip... |
ORPHA:166002 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Cutis laxa, Absent pubic hair, Alopecia of scalp, Hy... |
ORPHA:2269 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Arachnodactyly, Camptodactyly of finger, Carious teeth, Hyperkeratosis, Coarse hair... |
ORPHA:1883 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Cryptorchidism, High palate, Gastroesophageal reflux, Follicular hyperkeratosis, Dry skin |
ORPHA:486815 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia, Metaphyseal widening, D... |
OMIM:255800 |
Chime Syndrome |
|
Depressed nasal ridge, Short philtrum, Short palm, Microdontia, Sparse hair, Abnormal dental morp... |
ORPHA:3474 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Gingivitis, Death in childhood, Hyperkeratosis, Scaling skin, Congenital nonbullous ich... |
OMIM:614457 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Palmoplantar hyperkeratosis, Tibial bowing, Short palm, ... |
OMIM:601812 |
Fraser Syndrome 2 |
|
Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Rectal atresia, Low anterior hairli... |
OMIM:617666 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Aganglionic megacolon, Anal atresia |
OMIM:235760 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovaginal fistula, A... |
ORPHA:3016 |
Sirenomelia |
|
Absence of the sacrum, Spina bifida, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia o... |
ORPHA:3169 |
Metatropic Dysplasia |
|
Depressed nasal bridge, Camptodactyly of finger, Micromelia, Cleft palate, Halberd-shaped pelvis,... |
ORPHA:2635 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Depressed nasal bridge, Eczema, Dysphagia, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin, Hype... |
OMIM:612379 |
Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology, Cryptorchidism, Hyperkeratosis, Hypogonadism, Ichthyosis, Testicular... |
ORPHA:281090 |
Vacterl Association With Hydrocephalus |
|
Radial club hand, Stillbirth, Anal atresia, Absent thumb |
OMIM:276950 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Highly arched eyebrow, Short thumb, 2-3... |
ORPHA:2712 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopla... |
ORPHA:312 |
Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Absent radius, Micrognathia, Rectal atresi... |
OMIM:115470 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Xerostomia, Orofacial cleft, Coarse... |
ORPHA:1896 |
Acrocephalopolydactyly |
|
Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose, Brachydactyly |
ORPHA:221054 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Webbed neck, Anteriorly placed anus, Downturned corners of mouth, Clitoral hypoplas... |
OMIM:616894 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, High palate, Follicular hyperkeratosis |
OMIM:617066 |
Charlie M Syndrome |
|
Finger syndactyly, Micrognathia, Narrow mouth, Non-midline cleft lip, Split hand, Wide nasal brid... |
ORPHA:1406 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Depressed nasal bridge, Mi... |
ORPHA:166272 |
Juberg-Hayward Syndrome |
|
Aplasia/Hypoplasia of the thumb, Highly arched eyebrow, Cleft upper lip, Abnormal toe morphology,... |
OMIM:216100 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Highly arched eyebrow, Abnormality of the... |
ORPHA:178303 |
Orofaciodigital Syndrome Type 10 |
|
Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ... |
ORPHA:2756 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal fing... |
ORPHA:2980 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascites, Death in adolescence, Hydro... |
OMIM:620014 |
Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... |
ORPHA:1240 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Alopecia, Abnormal dental enamel morphology, Prominent nose, Abnormality of th... |
ORPHA:1005 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, Synophrys, Coxa vara, Gastroesophageal reflux, Clinodactyly of t... |
OMIM:614701 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Radial Aplasia, X-Linked |
|
Absent radius, Penile hypospadias, Anal atresia |
OMIM:312190 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly |
OMIM:615938 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Abnormal limb bone morphology, Fine hair, Hyperkeratosis, Pili t... |
ORPHA:1573 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Prominent nose, Synophrys, Short philtrum, Gastroesophageal reflux, Long philtrum, Long toe, Exag... |
OMIM:618316 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, L... |
OMIM:118651 |
Chondrodysplasia, Blomstrand Type |
|
Depressed nasal bridge, Micromelia, Polyhydramnios, Fetal ascites, Micrognathia, Squared iliac bo... |
OMIM:215045 |
Ruvalcaba Syndrome |
|
Short metacarpal, Dental crowding, Micromelia, Underdeveloped nasal alae, Cryptorchidism, Limited... |
OMIM:180870 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Anteverted nares, Depressed nasal bridge, Metaphyseal widening, Squared iliac bone... |
OMIM:618961 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Bilateral cryptorchidis... |
OMIM:305400 |
Mohr Syndrome |
|
Micrognathia, Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndacty... |
OMIM:252100 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Xerostomia, T... |
OMIM:604292 |
Genitopatellar Syndrome |
|
Small scrotum, Congenital hip dislocation, Hypoplastic ischia, Prominent nose, Polyhydramnios, Mi... |
OMIM:606170 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Polyhydramnios, Micrognathia, Deep philtrum, High palate... |
OMIM:115150 |
Bohring-Opitz Syndrome |
|
Polyhydramnios, Micrognathia, Low anterior hairline, Gastroesophageal reflux, Dislocated radial h... |
OMIM:605039 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Postaxial polydactyly, Esophageal varix, Hyperkeratosis, Inflammation of the la... |
OMIM:614576 |
Pallister-Hall Syndrome |
|
Small scrotum, Depressed nasal ridge, Micropenis, Bifid uvula, Aplasia/hypoplasia of the uterus, ... |
ORPHA:672 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Abnormal dental enamel morphology, Trichiasis, Cleft upper lip, Orofacial cleft, ... |
OMIM:601701 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Anteverted nares, Micromelia, Depressed nasal brid... |
ORPHA:93329 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Precocious puberty, Pyloric st... |
ORPHA:96184 |
Recessive X-Linked Ichthyosis |
|
Ichthyosis, Hyperkeratosis, Dry skin, Cryptorchidism |
ORPHA:461 |
Peters Plus Syndrome |
|
Micromelia, Polyhydramnios, Micrognathia, Clitoral hypoplasia, Widely spaced teeth, Clinodactyly ... |
ORPHA:709 |
Renpenning Syndrome 1 |
|
Brittle hair, Micrognathia, High palate, Short philtrum, Death in childhood, Sparse hair, Clinoda... |
OMIM:309500 |
Dowling-Degos Disease |
|
Penile freckling, Abnormality of the hand, Palmar pits, Pruritus, Hyperkeratosis, Anal margin squ... |
ORPHA:79145 |
Hydrolethalus |
|
Micromelia, Polyhydramnios, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Submucous c... |
ORPHA:2189 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Single transverse palmar crease, Micromelia, Polyhydramnios, Micrognathia, Preaxia... |
OMIM:612651 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Redundant skin, Frontal open bite, Micrognathia, Short toe, Gingival overgrowth, Gingival hyperke... |
OMIM:225410 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Pruritus, Erythema, Follicular hyperkeratosis, Sp... |
OMIM:607903 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Low... |
ORPHA:235 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... |
ORPHA:1263 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Micrognathia, Deep philtrum, Low anterior hairline, Downturned corners of mouth, Bifid uvula, Ant... |
ORPHA:404440 |
Odontoonychodermal Dysplasia |
|
Dry hair, Palmoplantar hyperkeratosis, Conical incisor, Widely spaced primary teeth, Smooth tongu... |
OMIM:257980 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Bifid scrotum, Anteverted nares, Depressed nasal bridge, Choanal atresia, Prominent scrotal raphe... |
ORPHA:1555 |
Trisomy 20P |
|
Micrognathia, Low anterior hairline, Downturned corners of mouth, Coarse hair, Short philtrum, Mi... |
ORPHA:261318 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Micrognathia, Low anterior hairline, Gingival overgrowth, Short philtrum, Prominent fingertip pad... |
ORPHA:480898 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Absent eyebrow, Acantholysis, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger sy... |
ORPHA:158687 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, Selective tooth agenesis, Sparse eyelashes, Conical tooth, Cleft upper lip, Absent e... |
OMIM:106260 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Death in infancy, Short metacarpal, Brachydactyly, Micromelia, Metaphy... |
OMIM:184260 |
Acrofrontofacionasal Dysostosis 2 |
|
Bifid scrotum, Syndactyly, Wide nose, Redundant neck skin, Broad hallux, Hypospadias, Widow's pea... |
OMIM:239710 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Diastem... |
OMIM:605282 |
Hereditary Acrokeratotic Poikiloderma |
|
Xerostomia, Palmoplantar hyperkeratosis, Gingivitis, Dystrophic fingernails, Finger syndactyly, O... |
ORPHA:2907 |
Ivic Syndrome |
|
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... |
ORPHA:2307 |
Cousin Syndrome |
|
Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Low anterior hairline, Am... |
OMIM:260660 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Congenital hip dislocation, Prominent nose, Abnormal periodontium morphology, High palate, Depres... |
ORPHA:480880 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Preaxial hand polydactyly, Talipes equinovarus, Anal atresia |
OMIM:601389 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Depressed nasal bridge, Abnormality of the hand, Cryptorchidism, Bulbous nose, Short ... |
ORPHA:369891 |
Microphthalmia, Syndromic 3 |
|
Hypogonadotropic hypogonadism, Hypospadias, Missing ribs, Esophageal atresia, Cryptorchidism, Mic... |
OMIM:206900 |
Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Thin upper lip vermilion, Clitoral hypertrophy, Anteverted nares, Depressed na... |
OMIM:619124 |
3P25.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fin... |
ORPHA:435638 |
Irida Syndrome |
|
Hyperkeratosis, Abnormal intestine morphology, Pallor, Ichthyosis |
ORPHA:209981 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... |
ORPHA:3258 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Median cleft lip, Alopecia totalis, Absent thumb, Aplasia/Hypo... |
ORPHA:1234 |
Werner Syndrome |
|
Sparse scalp hair, Miscarriage, Rocker bottom foot, Convex nasal ridge, Abnormal hair whorl, Smal... |
ORPHA:902 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Polyhydramnios, Duodenal stenosis |
ORPHA:2300 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Polyhydramnios, Narrow greater sciatic notch, Short palm, Hepatoblastoma, Exaggerated median tong... |
OMIM:312870 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Short metatarsal, Gastroesophageal reflux, Triphalangeal thumb, 2-4 finger syndact... |
OMIM:107480 |
Oculodentodigital Dysplasia |
|
Brittle hair, Micrognathia, Clinodactyly of the 5th finger, Sparse hair, Broad columella, Finger ... |
ORPHA:2710 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Depressed nasal bridge, Skin rash, Edema, Underdeveloped nasal alae, Cari... |
OMIM:604173 |
Pachyonychia Congenita |
|
Natal tooth, Alopecia, Angular cheilitis, Palmoplantar blistering, Linear arrays of macular hyper... |
ORPHA:2309 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Hydranencephaly, Redundant neck skin, Anteverted nares, Narrow nasal ridge, Si... |
OMIM:236500 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Clitoral hypoplasia, Short palm, Micro... |
OMIM:268310 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Furrowed tongue, Ulnar deviation of finger, Abnormal pelvic ... |
ORPHA:2928 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Micrognathia, Anorectal anomaly, Short philtrum, Abnormality of the uterus, Gastr... |
ORPHA:567 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Crypto... |
ORPHA:3121 |
Kindler Epidermolysis Bullosa |
|
Gingivitis, Inflammation of the large intestine, Colitis, Periodontitis, Short 5th metacarpal, Ab... |
ORPHA:2908 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Redundant neck skin, Hypospadias, Anteverted nares, Proximal placement of thumb, Depr... |
OMIM:217980 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Bnar Syndrome |
|
Anal stenosis, Short lingual frenulum, Abnormal fifth toe morphology, Anteriorly placed anus, Bif... |
ORPHA:217266 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,... |
ORPHA:957 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, External genital hypoplasia, Abnormality of the dentition, Cryptorchidism, Polydactyl... |
OMIM:615982 |
Microcephaly-Micromelia Syndrome |
|
Wide nose, Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial syno... |
OMIM:251230 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Polyhydramnios, Myelomeningocele, Ab... |
ORPHA:63259 |
Short-Rib Thoracic Dysplasia 12 |
|
Edema, Bowing of the legs, Polyhydramnios, Lobulated tongue, Short palm, Neonatal death, Hamartom... |
OMIM:269860 |
Recombinant 8 Syndrome |
|
Small scrotum, Redundant skin, Micrognathia, Downturned corners of mouth, Clinodactyly of the 5th... |
ORPHA:96167 |
Thakker-Donnai Syndrome |
|
Anteverted nares, Bulbous nose, Tracheoesophageal fistula, Webbed neck, Downturned corners of mou... |
ORPHA:1780 |
Osteoglophonic Dysplasia |
|
Short metatarsal, Eruption failure, High palate, Short palm, Short phalanx of finger, Broad metac... |
OMIM:166250 |
Achondrogenesis Type 1B |
|
Anteverted nares, Micromelia, Polyhydramnios, Micrognathia, Hydrops fetalis, Short foot, Talipes ... |
ORPHA:93298 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Esophageal stricture, Gastrointestinal inflammation, Palmop... |
ORPHA:79409 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Micromelia, Abnormality of the dentition, Synophrys, Smal... |
ORPHA:238750 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Sandal gap, Choanal atresia, Cleft upper lip, Long nose, Micrognathia, Deep philtr... |
OMIM:251260 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Cleft upper lip, Pericardial effusion, Depressed nasal ri... |
OMIM:613885 |
Gaucher Disease, Perinatal Lethal |
|
Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Polyhydramnios, Nonimmune ... |
OMIM:608013 |
Noonan Syndrome 8 |
|
Curly hair, Eczema, Polyhydramnios, Cryptorchidism, Hyperkeratosis, Webbed neck, Palmoplantar cut... |
OMIM:615355 |
Achondrogenesis Type 1A |
|
Short palm, Anteverted nares, Micromelia, Polyhydramnios, Micrognathia, Hydrops fetalis, Short fo... |
ORPHA:93299 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Death in infancy, Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal ma... |
OMIM:243150 |
Cloacal Exstrophy |
|
Hypoplasia of penis, Intestinal malrotation, Spina bifida, Abnormal tibia morphology, Myelomening... |
ORPHA:93929 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Depressed nasal bridge, Dumbbell-shaped long bone, Micromelia, Hypopla... |
OMIM:151210 |
Jacobsen Syndrome |
|
Broad columella, Long hallux, Long philtrum, Abnormality of the anus, Broad hallux phalanx, Finge... |
ORPHA:2308 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Pruritus, Hyperkerat... |
OMIM:602400 |
Oculomaxillofacial Dysostosis |
|
Brachydactyly, Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormali... |
ORPHA:1794 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Redundant neck skin, Anteriorly placed anus, High palate, Choanal stenosis, Acanth... |
OMIM:123790 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Short femur, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormality of the dentition, Abnor... |
ORPHA:573 |
Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis, Short metacarpal, Toe syndactyly, Sparse scalp hair |
ORPHA:2611 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Non-midline cleft lip, Cleft palate, ... |
ORPHA:2549 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Thin upper lip vermilion, Clitoral hypertrophy, Toe syndactyly, Bulbous nose, Hypoplasia of the r... |
ORPHA:140952 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Scaling skin |
OMIM:617115 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Hypoplastic nipples,... |
OMIM:603543 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Wide nose, Anteverted nares, Depressed nasal bridge, Micromelia, Hypoplastic is... |
OMIM:613320 |
Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ichthyosis, Orthokeratosis |
OMIM:607936 |
Congenital Tracheomalacia |
|
Esophageal atresia, Recurrent upper respiratory tract infections, Tracheoesophageal fistula, Cuti... |
ORPHA:95430 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmop... |
OMIM:148700 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... |
OMIM:618546 |
Rothmund-Thomson Syndrome Type 2 |
|
Long nose, Facial edema, Patellar hypoplasia, Facial erythema, High palate, Microdontia, Sparse h... |
ORPHA:221016 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Highly arched eyebro... |
OMIM:239300 |
Achondroplasia |
|
Rhizomelia, Anteverted nares, Depressed nasal bridge, Bowing of the legs, Short proximal phalanx ... |
ORPHA:15 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Syndactyly, Hypospadias, Micrognathia, Cryptorchidism, Cleft palate, Short 5th fin... |
ORPHA:397590 |
Fanconi Anemia, Complementation Group R |
|
Anal atresia, Agenesis of permanent teeth, Radial dysplasia, Absent thumb |
OMIM:617244 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Abnormal internal genitalia, Intestinal malrotation, Tracheoesophageal fistula, Oligohydramnios, ... |
ORPHA:2973 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Choanal stenosis, Scaling skin, Atrichia, Death in childhood, Neonatal d... |
OMIM:308205 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cleft lip, Anosmia, Cleft palate, Micropenis, Bifid nose, Hyposmia... |
OMIM:614838 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Proximal placement of thumb, Micromelia, Micrognathia, High, nar... |
OMIM:122470 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Erythema, Hyperkeratosis, Palmar hyperlinearity, Palmoplantar keratoderma, Congenital nonbullous ... |
OMIM:606545 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... |
OMIM:615508 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Anal stenosis, Depressed nasal bridge, Prominent nasal bridge, Prominent ... |
ORPHA:647 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Swollen lip, Polyhydramnios, Micrognathia, Calcaneovalgus deformity, Depressed nasal ... |
OMIM:256520 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Small scrotum, Congenital hip dislocation, Single transverse palmar c... |
OMIM:601803 |
Mckusick-Kaufman Syndrome |
|
Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Edema,... |
OMIM:236700 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Finger syndactyly, Toe syndactyly, Hypospadias, Congenital hip dislocation, Supern... |
ORPHA:217346 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High p... |
ORPHA:93307 |
Donohue Syndrome |
|
Precocious puberty, Thick lower lip vermilion, Long penis, Gingival overgrowth, Wide mouth, Hyper... |
OMIM:246200 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Scapular winging, Anteverted nares, Monkey wrench femoral neck, Micromelia, De... |
OMIM:618870 |
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome |
|
Ectopic anus |
ORPHA:2866 |
Lichen Planus Pemphigoides |
|
Skin vesicle, Hyperkeratosis, Abnormal oral mucosa morphology, Pruritus |
ORPHA:254478 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Polyhydramnios, Abnormal ... |
OMIM:200600 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micromelia, Polyhydramnios, Micrognathia, Hydrops fetalis, Finger clinodacty... |
ORPHA:99776 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
Achondrogenesis |
|
Anteverted nares, Micromelia, Polyhydramnios, Micrognathia, Hydrops fetalis, Long philtrum, Umbil... |
ORPHA:932 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Micrognathia, Coarse hair, Widely spaced teeth, Sparse hair, Clinodactyly of the 5... |
ORPHA:1071 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormal pelvis bone morphology, Discoid lupus rash, Abnormal pelvis bone ossificatio... |
ORPHA:166119 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ... |
ORPHA:3201 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, E... |
ORPHA:3107 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Non-... |
ORPHA:1908 |
Restrictive Dermopathy 1 |
|
Polyhydramnios, Micrognathia, Overtubulated long bones, Scaling skin, Neonatal death, Hypospadias... |
OMIM:275210 |
W Syndrome |
|
Hypoplasia of the ulna, Radial bowing, Broad uvula, Depressed nasal bridge, Acne, Broad nasal tip... |
ORPHA:2804 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Gm1 Gangliosidosis |
|
Depressed nasal bridge, Camptodactyly of finger, Broad nasal tip, Thickened skin, Depressed nasal... |
ORPHA:354 |
Robinow Syndrome |
|
Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Orofacial cleft, Clito... |
ORPHA:97360 |
Alkuraya-Kucinskas Syndrome |
|
Small scrotum, Overlapping toe, Anteverted nares, Depressed nasal bridge, Edema, Pericardial effu... |
OMIM:617822 |
Dpm1-Cdg |
|
Tented upper lip vermilion, Sandal gap, External genital hypoplasia, Depressed nasal bridge, Micr... |
ORPHA:79322 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Glutamine Deficiency, Congenital |
|
Anteverted nares, Depressed nasal bridge, Micromelia, Erythema, Wide nasal bridge, Thin vermilion... |
OMIM:610015 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Intestinal... |
OMIM:300963 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Syndactyly, Toe syndactyly, Anteverted nares, Intestinal malrotation, Clinodactyly of the 5th fin... |
OMIM:601163 |
Incontinentia Pigmenti |
|
Abnormal hand morphology, Orofacial cleft, Spina bifida occulta, Finger syndactyly, Alopecia, Abn... |
ORPHA:464 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges ... |
OMIM:113000 |
Glass Syndrome |
|
Dental crowding, Anterior tibial bowing, Conical tooth, Long nose, Micrognathia, Oligodontia, Hig... |
OMIM:612313 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal ... |
OMIM:224400 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Hypospadias, Single transverse palmar crease, Ovotestis, Cleft palate, Ante... |
OMIM:309801 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Eclabion, Hypergranulosis, Hyperkeratosis, Palmar hyperlinearity, Congenital nonbullous ichthyosi... |
OMIM:615023 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, C... |
ORPHA:93316 |
Pachyonychia Congenita 1 |
|
Nail dystrophy, Follicular hyperkeratosis, Oral leukoplakia, Palmoplantar hyperkeratosis |
OMIM:167200 |
Lymphatic Malformation 4 |
|
Hydrocele testis, Hyperkeratosis, Pedal edema, Lymphedema |
OMIM:615907 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Occipital encephalocele, Ambiguous genitalia, Talipes equinovarus |
OMIM:614209 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, High, narrow palate, Femoral bowing, Anteriorly placed anus, Abnormal ovarian... |
ORPHA:95699 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Bilateral single transvers... |
ORPHA:2639 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Micrognathia, Anteriorly placed anus, Cutaneous finger s... |
OMIM:151050 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Sparse eyelashes, Micrognathia, High, narrow palate, Supernumerary tooth, Bulb... |
ORPHA:1787 |
Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
Cardiofaciocutaneous Syndrome 3 |
|
Wide mouth, Hyperkeratosis, Curly hair, Webbed neck |
OMIM:615279 |
Elsahy-Waters Syndrome |
|
Bifid scrotum, Bilateral cryptorchidism, Synophrys, Anteriorly placed anus, Cutaneous finger synd... |
OMIM:211380 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Polyhydramnios, Synophrys, Tracheoesophageal fistula, Cleft pa... |
ORPHA:261272 |
Kabuki Syndrome 1 |
|
Congenital hip dislocation, Premature thelarche, Micrognathia, High palate, Prominent fingertip p... |
OMIM:147920 |
Mednik Syndrome |
|
Hyperkeratosis, Abnormal intestine morphology, Ichthyosis |
ORPHA:171851 |
Thoracomelic Dysplasia |
|
Elbow dislocation, Abnormal fibula morphology, Genu valgum, Low posterior hairline, Abnormal pelv... |
ORPHA:1803 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Cardioacrofacial Dysplasia 2 |
|
Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Postaxial hand polydactyly, D... |
OMIM:619143 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Hypospadias, Bilateral single transverse palmar creases, Ab... |
ORPHA:1786 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, High palat... |
ORPHA:570 |
Congenital Disorder Of Glycosylation, Type If |
|
Death in infancy, Hyperkeratosis, Thin vermilion border, Scaling skin, Erythroderma, Dry skin |
OMIM:609180 |
Thanatophoric Dysplasia |
|
Depressed nasal bridge, Redundant skin, Micromelia, Polyhydramnios, Abnormal sacroiliac joint mor... |
ORPHA:2655 |
Ichthyosis Prematurity Syndrome |
|
Allergic rhinitis, Polyhydramnios, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, E... |
OMIM:608649 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Prominent nasal bridge, Nonimmune ... |
OMIM:137940 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Syndactyly, Short metacarpal, Hypospadias, Single transverse palmar crease, Me... |
OMIM:123450 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly, Death in infancy, Carious teeth, Pyloric stenosis, Nail dystrophy, Enamel hypoplasia |
OMIM:226700 |
Koolen-De Vries Syndrome |
|
High, narrow palate, Microdontia, Thick nasal alae, Arachnodactyly, Abnormal dental enamel morpho... |
ORPHA:96169 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Abnormal preputium morphology, Prominent nose, Bulbous nose, Glandular hypospa... |
ORPHA:293725 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Polyhydramnios, Micrognathia, Malrotation of colon, Abnormal ossificatio... |
ORPHA:1190 |
Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Convex nas... |
ORPHA:783 |
2Q37 Microdeletion Syndrome |
|
Downturned corners of mouth, Short palm, Clinodactyly of the 5th finger, Broad columella, Bilater... |
ORPHA:1001 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Alopecia, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Ost... |
ORPHA:88630 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Polyhydramnios, Proximal placement of thumb, Atopic dermatitis, Anteriorly plac... |
OMIM:618624 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Redundant neck skin, Rhizomelia, Anteverted nares, Micromelia, Abnormality... |
ORPHA:1842 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Prominent nose, Micrognathia, Delayed epiphyseal oss... |
OMIM:210710 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Prominent nose, Micrognathia, Aplasia of the epiglottis, High palate... |
OMIM:268305 |
Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Acral ulceration, Abnormal small intestine morpholo... |
ORPHA:90291 |
Neu-Laxova Syndrome |
|
Abnormality of the philtrum, External genital hypoplasia, Micromelia, Spina bifida, Abnormal eyel... |
ORPHA:2671 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Alopecia, Tented upper lip vermilion, Anteverted nares, Rocker bottom foot, Pr... |
OMIM:619762 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Elbow flexion ... |
OMIM:148210 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Cl... |
ORPHA:1106 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Prominent nose, Depressed nasal ridge, Downturned corners of mou... |
ORPHA:2378 |
Noonan Syndrome 7 |
|
Curly hair, Depressed nasal bridge, Dysphagia, Low posterior hairline, Deep palmar crease, Thick ... |
OMIM:613706 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Abnormal limb bone morphology, Hydrops fetalis, Polyhydramnios |
ORPHA:2204 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Irregular dentition, Depressed nasal bridge, Lymphedema, Narrow mouth, Intestinal lym... |
OMIM:616006 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Folliculitis, Palm... |
OMIM:308800 |
Tarp Syndrome |
|
Anteverted nares, Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Mic... |
OMIM:311900 |
Image Syndrome |
|
Metaphyseal dysplasia, Hypospadias, Depressed nasal bridge, Micromelia, Cryptorchidism, Hypogonadism |
ORPHA:85173 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Depressed nasal bridge, Redundant skin, Micromelia, Polyhydramnios, Increased nuch... |
ORPHA:93274 |
Van Maldergem Syndrome 2 |
|
Bifid scrotum, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Microgna... |
OMIM:615546 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Laterally extended eyebrow, Short 2nd finger, Sandal gap, Broad hallux,... |
OMIM:600987 |
Campomelia, Cumming Type |
|
Death in infancy, Bowing of the long bones, Micromelia, Lymphedema, Hydrops fetalis, Cleft palate... |
ORPHA:1318 |
Kid Syndrome |
|
Angular cheilitis, Equinus calcaneus, Scarring alopecia of scalp, Patellar hypoplasia, Gingivitis... |
ORPHA:477 |
3M Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, ... |
ORPHA:2616 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... |
ORPHA:1307 |
Hypertrichosis Cubiti |
|
Rhizomelia, Prominent nasal bridge, Micromelia, Abnormal eyelash morphology, Abnormality of the e... |
ORPHA:2220 |
C Syndrome |
|
Redundant skin, Micromelia, Polyhydramnios, Micrognathia, High palate, Clinodactyly of the 5th fi... |
ORPHA:1308 |
Oeis Complex |
|
11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Intestinal malrotation, Bifi... |
OMIM:258040 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... |
ORPHA:2919 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the philtrum, Bilateral single transverse palmar creases, Abnormal hair pattern, N... |
ORPHA:1770 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Micro... |
ORPHA:2633 |
Curry-Jones Syndrome |
|
Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Duplication of thumb phalanx... |
OMIM:601707 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Abnormal reproductive... |
ORPHA:65759 |
Pfeiffer Syndrome |
|
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, D... |
OMIM:101600 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Small scrotum, Polyhydramnios, Downturned corners of mouth, Advanced eruption of teeth, Long phil... |
ORPHA:2215 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Supernumerary ni... |
OMIM:263750 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Wide nose, Short lingual frenulum, Supernumerary nipple, Bifid uterus, Abnormal repro... |
ORPHA:1521 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Depressed nasal bridge, Redundant skin, Micromelia, Polyhy... |
ORPHA:1860 |
Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Congenital hip dislocation, Anteverted nares, Limited elbow movement, Highly arch... |
OMIM:615065 |
Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Choanal atresia, Absent external genitalia, Cleft upper lip, Mi... |
OMIM:273395 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Abnormality of the dentition, Deep philtrum, Wide nasal bridge, Cleft... |
ORPHA:251038 |
Triploidy |
|
Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Polyhydramnios, Micr... |
ORPHA:3376 |
Desbuquois Dysplasia 2 |
|
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Synophrys, Short phalanx ... |
OMIM:615777 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, Proximal placement of thumb, Limited elbow movement, Micrognathi... |
OMIM:610759 |
Mosaic Trisomy 1 |
|
Single transverse palmar crease, Polyhydramnios, Orofacial cleft, Finger clinodactyly, Micropenis... |
ORPHA:1692 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Limited elbow movement, Limited w... |
OMIM:617809 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... |
ORPHA:93323 |
Achondrogenesis, Type Ib |
|
Polyhydramnios, Micromelia, Hypoplastic ilia, Edema, Hydrops fetalis, Stillbirth, Short ribs, Umb... |
OMIM:600972 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
Fibrochondrogenesis 1 |
|
Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Poster... |
OMIM:228520 |
Infantile Systemic Hyalinosis |
|
Short palm, Abnormality of the gastrointestinal tract, Abnormal dental morphology, Camptodactyly ... |
ORPHA:2176 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Tented upper lip vermilion, Aganglionic megacolon, Prominent nasal bridge, Highly arched eyebrow,... |
ORPHA:247262 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Medial flaring of the eyebrow, Thin upper lip vermilion, Sandal gap, Anteverted nares, Sparse eye... |
OMIM:612863 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Polyhydramnios, Micrognathia, High ... |
ORPHA:3103 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly |
OMIM:600384 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Comedonal acne, Follicular hyperkeratosis |
OMIM:615147 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars... |
OMIM:609945 |
Down Syndrome |
|
Redundant neck skin, Sandal gap, Aganglionic megacolon, Single transverse palmar crease, Protrudi... |
OMIM:190685 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
Hypomelanosis Of Ito |
|
Syndactyly, Alopecia, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly, Radi... |
OMIM:300337 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Hypopla... |
ORPHA:83628 |
Hamamy Syndrome |
|
Micrognathia, High palate, Clinodactyly of the 5th finger, Sparse hair, Abnormal number of hair w... |
OMIM:611174 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... |
OMIM:620148 |
Chronic Mucocutaneous Candidiasis |
|
Skin rash, Abnormal dental enamel morphology, Pruritus, Erythema, Cheilitis, Skin ulcer, Hyperker... |
ORPHA:1334 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis |
OMIM:613943 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Bifid scrotum, Finger syndactyly, Sparse scalp hair, Hypospadias, Aganglionic megacolon, Sparse e... |
ORPHA:66629 |
Dyskeratosis Congenita |
|
Anorectal anomaly, White hair, Premature graying of hair, Periodontitis, Sparse hair, Skin vesicl... |
ORPHA:1775 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Hip dislocation, High palate, Talipes equinovarus, Follicular hyperkeratosis, Increased laxity of... |
OMIM:254090 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Premature loss of permanent teeth, Hypospadias, External genital hypoplasia, Sclerodactyly, Ovote... |
OMIM:610644 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Polyhydramnios, Long nose, Micrognathia, Narrow greater sciatic notch, Sh... |
ORPHA:508533 |
Xp22.3 Microdeletion Syndrome |
|
Ectopic anus, Hypogonadotropic hypogonadism, Polycystic ovaries |
ORPHA:1643 |
Teebi-Shaltout Syndrome |
|
Single transverse palmar crease, High, narrow palate, Low anterior hairline, Oligodontia, Sparse ... |
OMIM:272950 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Edema, Polyhydramnios, Micro... |
OMIM:616038 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... |
ORPHA:958 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Abnormal tibia morphology, Deep philtrum, Synophrys, Low anterior hairline, Downtur... |
ORPHA:251014 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Choanal atresia, Cleft upper lip, Cryptorchidism, Anosmia, Cleft p... |
OMIM:147950 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Bifid scrotum, Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Small scrotum, Choana... |
ORPHA:1300 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Hamartoma of tongue, Accessory oral frenulum, Micrognathia... |
OMIM:258860 |
Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depress... |
ORPHA:93258 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Leukocyte Adhesion Deficiency Type Ii |
|
Severe periodontitis, Overlapping toe, Depressed nasal bridge, Protruding tongue, Long upper lip,... |
ORPHA:99843 |
Trisomy 8Q |
|
Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Cryptorchidism, Non-midline cleft lip... |
ORPHA:1752 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Abnorma... |
ORPHA:429 |
Craniofrontonasal Syndrome |
|
Clinodactyly of the 5th finger, Broad hallux, Hypospadias, Cleft upper lip, Cryptorchidism, Wide ... |
OMIM:304110 |
Noonan Syndrome 10 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Increased nuchal translucency, Hyperkeratosis, High p... |
OMIM:616564 |
Axenfeld-Rieger Syndrome |
|
Anal stenosis, Hypospadias, Redundant skin, Depressed nasal bridge, Wide nasal bridge, Everted lo... |
ORPHA:782 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Alopecia, Oral mucosal blisters, Narrow mouth, Esophageal str... |
OMIM:226600 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Genu valgum, Short philt... |
OMIM:619142 |
Holoprosencephaly |
|
Hypoplasia of penis, Deep philtrum, Synophrys, Depressed nasal ridge, Absent nares, Gastroesophag... |
ORPHA:2162 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Sandal gap, Abnormal dental enamel morphology, Depressed nasal bridge, Super... |
ORPHA:1812 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Thin upper lip vermilion, Anal stenosis, Sparse scalp hair, Depressed nasal bridge, Micrognathia,... |
OMIM:620029 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Prominent nasal bridge, Hamartoma of tongue, Broad nasal tip, ... |
ORPHA:2754 |
Jeune Syndrome |
|
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Short foot, C... |
ORPHA:474 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Sparse eyebrow, Leu... |
OMIM:613102 |
Cerebrofacioarticular Syndrome |
|
Syndactyly, Anal stenosis, Irregular dentition, Hypospadias, Lymphedema, Bilateral choanal atresi... |
ORPHA:314679 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Depressed nasal ridge, Tibial bowing, Short palm, Spars... |
ORPHA:175 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Micrognathia, Anteriorly placed anus, Glossoptosis, H... |
OMIM:117650 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal ... |
OMIM:609441 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Cleft upper lip, Micrognathia, Meningoencephalocele, Cryptorchidism, Cle... |
OMIM:236670 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Follicular hyperkeratosis |
ORPHA:300179 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Tented upper lip vermilion, Redundant neck skin, External genital hypoplasia, Single transverse p... |
ORPHA:96334 |
Van Den Ende-Gupta Syndrome |
|
Dental crowding, Glenoid fossa hypoplasia, Micrognathia, High, narrow palate, 2-3 toe cutaneous s... |
OMIM:600920 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Elbow dislocation, Lateral humeral condyle aplasia, Symphala... |
ORPHA:2741 |
Acromesomelic Dysplasia 4 |
|
Synophrys, Short metatarsal, Short phalanx of finger, Generalized hirsutism, Genu varum, Short me... |
OMIM:619636 |
Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Abn... |
ORPHA:1798 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Thick eyebrow, Tented upper lip vermilion, Eczema, High, narrow pala... |
ORPHA:488632 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Acne, High, narrow palate, Abnormal 5th finger morphology, Cryptorchidism, Glandular ... |
ORPHA:1439 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma |
OMIM:133200 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bri... |
OMIM:614207 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara, Upper limb... |
ORPHA:93351 |
Limb-Mammary Syndrome |
|
Cleft hard palate, Aplasia of the ovary, Clinodactyly of the 5th finger, Bifid uvula, Syndactyly,... |
ORPHA:69085 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Narrow nasal bridge, Abnormality of the dentition, Skin ulcer, Fine hair, Hyperkeratosis, Sparse ... |
ORPHA:1806 |
Pycnodysostosis |
|
Prominent nose, Micrognathia, High palate, Hypoplastic iliac wing, Rhizomelia, Persistence of pri... |
ORPHA:763 |
Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Premature graying of hair, High... |
OMIM:268400 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer, Gastroesophageal reflux |
ORPHA:36386 |
Raine Syndrome |
|
Micromelia, Micrognathia, High palate, Choanal stenosis, Neonatal death, Microdontia, Long hallux... |
OMIM:259775 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Edema of the dorsum of hands, Micrognathia, Femoral bowing, Abnormal... |
OMIM:274000 |
Cole Disease |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:615522 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Syndactyly, Depressed nasal bridge, Prominent nasal bridge, Abnormality of the dentition, Cryptor... |
OMIM:618505 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid stern... |
ORPHA:63260 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Polyhydramnios, Hypoplastic ilia, Flared metaphysis... |
OMIM:187601 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Recurrent skin infections, Abnormality of the dentition,... |
ORPHA:158668 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Hypoplas... |
OMIM:617895 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Orofacial cleft... |
ORPHA:79107 |
Degcags Syndrome |
|
Polyhydramnios, Prominent nose, Oral-pharyngeal dysphagia, Micrognathia, Synophrys, Low anterior ... |
OMIM:619488 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly, Thin upper lip vermilion, Anteverted nares, Frontal balding, Thick lower lip vermilio... |
ORPHA:1942 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Clubbing, Hyperkeratosis, Colitis, Frontal upsweep of hair, Broad eyebrow |
OMIM:301220 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Dehydration, Decreased intestinal transit time, Ste... |
OMIM:615237 |
Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Gastrointestinal hemorrhage, Alopecia, Absent to... |
ORPHA:974 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognathia, Flat ca... |
OMIM:147891 |
Branchioskeletogenital Syndrome |
|
Upper limb peromelia, Synophrys, Anteriorly placed anus, Downturned corners of mouth, Short philt... |
ORPHA:1299 |
Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebro... |
OMIM:610768 |
Orofaciodigital Syndrome Type 1 |
|
Brittle hair, Micrognathia, Lobulated tongue, Coarse hair, High palate, Clinodactyly of the 5th f... |
ORPHA:2750 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease... |
ORPHA:3472 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Cone-s... |
ORPHA:63446 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Wide nose, Exaggerated cupid's bow, Camptodactyly of fing... |
ORPHA:284160 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Jejunal atresia, Single transverse palmar crease, Polyhydramnios, Tapered finger, High, narrow pa... |
OMIM:612949 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Anteriorly placed anus, Depressed nasal bridge, 11 pairs of ribs, Rhizomelia |
OMIM:617661 |
Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Wide nasal bridge, Symphalangism affecting the phalanges of the... |
ORPHA:710 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Hypoplasia of penis, Micromelia, Postaxial hand polydactyly, Split hand, Abnormali... |
ORPHA:2491 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormality of female external genitalia, Micromelia, Prominent nose, Precocious puberty, Underde... |
ORPHA:2637 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Hamartoma of tongue, Accessory oral f... |
OMIM:277170 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Limb undergrowth, Limited elbow extension, Bowing of the legs |
ORPHA:156728 |
Cohen Syndrome |
|
Micrognathia, High, narrow palate, Low anterior hairline, Short philtrum, Clinodactyly of the 5th... |
ORPHA:193 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Hypospadias, Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, Eczema, Cryptorchid... |
ORPHA:500159 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Cleft soft palate, Increased nuchal translucency, Pierre-Robin sequence... |
OMIM:620183 |
Sponastrime Dysplasia |
|
Aplasia of the nasal bone, Metaphyseal widening, Osteopathia striata, Delayed epiphyseal ossifica... |
ORPHA:93357 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Polyhydra... |
OMIM:600383 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Esophageal stenosis, Prominent nose, High anterior hairline, Downturned corners of mouth, Hyperke... |
OMIM:615510 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger,... |
OMIM:280000 |
Noonan Syndrome 2 |
|
Curly hair, Polyhydramnios, Micrognathia, Sparse eyebrow, Cryptorchidism, Increased nuchal transl... |
OMIM:605275 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Micromelia, Postaxial polydactyl... |
OMIM:617866 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Polyhydramnios, Micrognathia, Gastroesophageal ... |
ORPHA:818 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Synophrys, Aplasia of the distal phalanx of the 5th fin... |
OMIM:608670 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Meier-Gorlin Syndrome 1 |
|
Micrognathia, Flat glenoid fossa, Cutaneous finger syndactyly, High palate, Gastroesophageal refl... |
OMIM:224690 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Hypergranulosis, Esophageal neoplasm, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Pros... |
ORPHA:79501 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Renal Agenesis |
|
Absent vas deferens, Aplasia/hypoplasia of the uterus, Talipes equinovarus, Anal atresia, Oligohy... |
ORPHA:411709 |
Oculodentodigital Dysplasia |
|
Dry hair, Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia... |
OMIM:164200 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Cree Mental Retardation Syndrome |
|
Bifid scrotum, Aplasia/Hypoplasia of the ribs, Hypospadias, Rocker bottom foot, Cleft soft palate... |
OMIM:606851 |
Orofaciodigital Syndrome I |
|
Dry hair, Lobulated tongue, High palate, Sparse hair, Microretrognathia, Syndactyly, Alopecia, Ha... |
OMIM:311200 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Alopecia, Maculopapular exanthema, Eosinophilia, Supernumerary nipple,... |
OMIM:308300 |
Achondrogenesis Type 2 |
|
Micromelia, Edema, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Pierre-Rob... |
ORPHA:93296 |
Restrictive Dermopathy |
|
Polyhydramnios, Micrognathia, Scaling skin, Sparse hair, Aplasia/Hypoplasia involving the nose, H... |
ORPHA:1662 |
Marshall-Smith Syndrome |
|
Irregular dentition, Brittle hair, Bilateral cryptorchidism, Synophrys, Distal widening of metaca... |
OMIM:602535 |
Retinitis Pigmentosa 89 |
|
Esophageal varix, Postaxial polydactyly |
OMIM:618955 |
Meige Disease |
|
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... |
ORPHA:90186 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Anteverted nares, Depressed ... |
ORPHA:50945 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Elbow dislocation,... |
ORPHA:2249 |
Okamoto Syndrome |
|
Tented upper lip vermilion, Redundant neck skin, Downturned corners of mouth, Gastroesophageal re... |
ORPHA:2729 |
Monosomy 22 |
|
Finger syndactyly, Wide nose, Single transverse palmar crease, Seborrheic dermatitis, Thickened s... |
ORPHA:96123 |
Warburg-Cinotti Syndrome |
|
Dental crowding, Underdeveloped nasal alae, Erythema, Elbow flexion contracture, Gingival overgro... |
OMIM:618175 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Eczema, Polyhydramnios, Cryptorchidism, Webbed neck, Hyperkeratosi... |
OMIM:607721 |
Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Malar rash |
ORPHA:163525 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Polyhydramnios, Hip dislocation, Wide nasal bridge, High palate, Limb undergrowth, Short nose, Hi... |
OMIM:618005 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Crane-Heise Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Anteverted nares, Depressed nasal bridge,... |
ORPHA:1512 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Micromelia, Depressed nasal brid... |
ORPHA:2021 |
Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Nail ... |
OMIM:615726 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Rocker bottom foot, Prominent nose, Micrognathia, Tibial bowing, Congenital bilateral hip disloca... |
ORPHA:453510 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis, Lymphedema |
ORPHA:79279 |
Diphallia |
|
Bifid scrotum, Abnormality of the gastrointestinal tract, Rectoperineal fistula, Hypospadias, Abs... |
ORPHA:227 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Nonimmune hydrops fetalis, Tibial bowing, Abnormal pelvic ... |
OMIM:166210 |
Cooper-Jabs Syndrome |
|
Anteverted nares, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Anteriorly ... |
ORPHA:1488 |
Anorectal Anomalies |
|
Rectovaginal fistula, Anal atresia |
OMIM:107100 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Bowing of the long bones, Micromelia, Micrognathia, Cryptorchidism, Wide... |
OMIM:224410 |
Bone Marrow Failure Syndrome 3 |
|
Metaphyseal dysplasia, Congenital hip dislocation, Eczema, Micrognathia, Cryptorchidism, Oral ulc... |
OMIM:617052 |
Focal Dermal Hypoplasia |
|
Cleft ala nasi, Congenital hip dislocation, Brittle hair, Osteopathia striata, Short metatarsal, ... |
OMIM:305600 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Cleft upper lip, Broad nasal tip, Cryptorchidism, Bifid nasal tip, Pre... |
OMIM:603671 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Rectal prolapse, Skin ulcer, Neoplasm of the rectum, Neoplasm of the liver, Intest... |
ORPHA:424019 |
Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Deep philtrum, Short metatarsal, Low anterior hairline, Finger clinod... |
OMIM:617137 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Ol... |
OMIM:617604 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Microgn... |
ORPHA:246 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Johanson-Blizzard Syndrome |
|
Single transverse palmar crease, Anteriorly placed anus, Downturned corners of mouth, Death in ch... |
OMIM:243800 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Anteriorly placed anus, Abnormality of the uterus, Triphalang... |
ORPHA:857 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Proximal placement of thumb, Micrognathia, Synophrys, Low anteri... |
ORPHA:199 |
Kinsship Syndrome |
|
Single transverse palmar crease, Micrognathia, Synophrys, Downturned corners of mouth, Short phil... |
OMIM:619297 |
Radio-Renal Syndrome |
|
Depressed nasal bridge, Micromelia, Micrognathia, High, narrow palate, Hypoplasia of the radius, ... |
ORPHA:3015 |
Desmosterolosis |
|
Depressed nasal bridge, Intestinal malrotation, Micromelia, Abnormality of the nose, Metatarsus a... |
ORPHA:35107 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Dry hair, Hypopigmentation of hair, Anteverted nares, Prominent nasal bridge, ... |
ORPHA:1974 |
Laron Syndrome |
|
Limb undergrowth, Short long bone |
OMIM:262500 |
Schwartz-Jampel Syndrome |
|
Micromelia, Polyhydramnios, Micrognathia, Low anterior hairline, Coxa vara, High palate, Wrist fl... |
ORPHA:800 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Greenberg Dysplasia |
|
Micromelia, Polyhydramnios, Micrognathia, Depressed nasal ridge, Hydrops fetalis, Tetraphocomelia... |
OMIM:215140 |
Ablepharon-Macrostomia Syndrome |
|
Redundant skin, Anteriorly placed anus, Cutaneous finger syndactyly, Clinodactyly of the 5th fing... |
OMIM:200110 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Exaggerated cupid's bow, Underdeveloped nasal alae, Micrognathia, C... |
OMIM:614230 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Anal stenosis, Hypospadias, Cryptorchidism, Wide nasal bridge, Everted lower lip vermilion, Short... |
OMIM:601499 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Absent eyelashes, Follicular hyperkerato... |
ORPHA:1809 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Depressed nasal ridge, M... |
OMIM:300863 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Micromelia, Missing ribs, Micrognathia, Flat acetabular roof, Large han... |
ORPHA:1801 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, High, narrow palate, Short philtrum,... |
ORPHA:464738 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Prominent nasal bridge, Broad nasal tip, Long nose, Cryptorchidism, Tooth malposition, Acanthosis... |
OMIM:616541 |
Currarino Syndrome |
|
Absence of the sacrum, Anal stenosis, Septate vagina, Perianal abscess, Gastrointestinal obstruct... |
OMIM:176450 |
Kagami-Ogata Syndrome |
|
Anteverted nares, Depressed nasal bridge, Polyhydramnios, Coxa valga, Micrognathia, Long fingers,... |
OMIM:608149 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... |
ORPHA:1836 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp... |
OMIM:211350 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Allergic rhinitis, Ulnar deviation of the wrist, Eczema, 2-3 toe syndactyly, Irregula... |
OMIM:618162 |
Fontaine Progeroid Syndrome |
|
Small scrotum, Redundant skin, Micrognathia, High, narrow palate, Synophrys, Low anterior hairlin... |
OMIM:612289 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Depressed nasal bridge, Promin... |
ORPHA:794 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Depressed nasal bridge, Hamartoma of tongue, Postaxial polydactyly, Micromelia, Accessory oral fr... |
OMIM:616546 |
Duplication Of Urethra |
|
Bifid scrotum, Clitoral hypertrophy, Hypospadias, Septate vagina, Rectourethral fistula, Epispadi... |
ORPHA:237 |
Greenberg Dysplasia |
|
Rhizomelia, Micromelia, Lymphedema, Micrognathia, Abnormal pelvis bone ossification, Brachydactyly |
ORPHA:1426 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Recurrent skin infections, Anal fissure, Carious teeth, Narrow mouth, Esopha... |
ORPHA:89842 |
Acrokeratoelastoidosis Of Costa |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis, Hyperkeratotic papule, Palmar hyper... |
ORPHA:38 |
Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Gastroesophageal reflux, Finger syndactyly, Alopecia, Abnormal d... |
ORPHA:2092 |
Sialidosis Type 1 |
|
Hyperkeratosis, Thick lower lip vermilion, Wide nasal bridge |
ORPHA:812 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Thin upper lip vermilion, Abnormal eyelash morphology, Downturned corners of mouth, Short columel... |
ORPHA:3164 |
Adult Syndrome |
|
Finger syndactyly, Alopecia, Toe syndactyly, Abnormal dental morphology, Prominent nasal bridge, ... |
ORPHA:978 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Vertebral hypoplasia, Coxa vara, ... |
OMIM:602557 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Sandal gap, Broad hallux, Micromelia, Single transverse palmar crease, Cutis laxa, Fi... |
OMIM:614800 |
Penile Agenesis |
|
Depressed nasal bridge, Rectal fistula, Cryptorchidism, Anorectal anomaly, Tracheoesophageal fist... |
ORPHA:49 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition |
OMIM:216300 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Metatarsus adductus... |
OMIM:227330 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Micromelia |
OMIM:273680 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Hypospadias, Camptodactyly of finger, Anteverted nares, Depressed nasal bridge... |
ORPHA:2311 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... |
OMIM:608728 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Dental crowding, Micromelia, Proximal placement of thumb, Micrognat... |
OMIM:270400 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Mesome... |
OMIM:609616 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Esophageal varix, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxi... |
OMIM:263520 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Single transverse palmar crease, Premature thelarche, Prominent nose, Bilateral ... |
OMIM:180849 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hydrocele testis, Hyperkeratosis, E... |
ORPHA:79452 |
Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv... |
ORPHA:210122 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Micrognathia, Hydrops fetalis, Downturned corners of mouth, High palate, Camptodactyly of toe, Di... |
OMIM:265000 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Depressed nasal bridge, Polydactyly, Smooth philtrum |
OMIM:602501 |
Acromesomelic Dysplasia 1 |
|
Short metacarpal, Radial bowing, Short nail, Broad metatarsal, Short toe, Hypoplasia of the radiu... |
OMIM:602875 |
Microphthalmia, Syndromic 1 |
|
Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prolapse, Orofacial... |
OMIM:309800 |
Sifrim-Hitz-Weiss Syndrome |
|
Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Flat acetabular roof, Anteriorly p... |
OMIM:617159 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Palpebral edema, Micromelia, Polyhydramnios, Generalized hypertrichosis, Adduct... |
ORPHA:50810 |
Larsen Syndrome |
|
Finger syndactyly, Depressed nasal bridge, Short nail, Cryptorchidism, Accessory carpal bones, Cl... |
ORPHA:503 |
Portal Hypertension, Noncirrhotic, 2 |
|
Epistaxis, Esophageal varix, Hepatocellular carcinoma, Ecchymosis, Ascites, Petechiae |
OMIM:619463 |
Kbg Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, Epispadias, Synophrys, Low anterior ... |
OMIM:148050 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... |
OMIM:158000 |
Ollier Disease |
|
Precocious puberty, Abnormal metaphysis morphology, Skin ulcer, Micromelia |
ORPHA:296 |
Septopreoptic Holoprosencephaly |
|
Anteriorly placed anus, Precocious puberty, Ethmoidal encephalocele, Dysphagia |
ORPHA:280195 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Absent external genitalia, Missing ribs, Aplasia of the vagina, Short ribs, Aplasia of the uterus... |
OMIM:271520 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Absence of the sacrum, Anal atresia, Persistent cloaca |
OMIM:615709 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Prominent nose, High, narrow palate, Deep philtrum, Low anterior hairline, Downturned corners of ... |
OMIM:619950 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Psoriasiform lesion, Osteolytic defects of the phalanges of the hand |
OMIM:616298 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Micromelia, Prominent nose, Long nose, Micrognathia, Abnormal finger morphology, Short palm, Larg... |
ORPHA:2636 |
Tarp Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, Finger syndactyly, Anteverted nares,... |
ORPHA:2886 |
Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Microdontia, Synostosis... |
ORPHA:289 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Prominent nasal bridge, Micrognathia, Preaxial polydacty... |
OMIM:243605 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Hydrops fetalis, Polyhydramnios, Intestinal atresia |
ORPHA:3405 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Short palm, Micromelia, Coxa vara |
ORPHA:168555 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Redundant skin, External genital hypoplasia, High, narrow palate, Epispadias, Abnormal finger mor... |
ORPHA:2658 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Syndactyly, Hypospadias, Single transverse palmar crea... |
ORPHA:1708 |
6Q Terminal Deletion Syndrome |
|
Hallux valgus, Aplasia/Hypoplasia of the ribs, Hypospadias, Highly arched eyebrow, Phimosis, Micr... |
ORPHA:75857 |
Catel-Manzke Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th... |
OMIM:616145 |
Shprintzen Omphalocele Syndrome |
|
Flared nostrils, Wide nasal bridge, Short columella, Thin vermilion border, Webbed neck, Anal atr... |
OMIM:182210 |
Cranioectodermal Dysplasia 2 |
|
Polyhydramnios, Micrognathia, Hydrops fetalis, Fused teeth, High palate, Widely spaced teeth, Mic... |
OMIM:613610 |
Loeys-Dietz Syndrome 5 |
|
Scapular winging, Tented upper lip vermilion, Arachnodactyly, Cleft soft palate, Eosinophilic inf... |
OMIM:615582 |
Leprechaunism |
|
Facial hypertrichosis, Enlarged ovaries, Overgrowth of external genitalia, Wide nose, Thickened s... |
ORPHA:508 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shaped distal pha... |
OMIM:271665 |
Myhre Syndrome |
|
External genital hypoplasia, Epispadias, Short palm, Large iliac wing, Bifid uvula, Abnormal peni... |
ORPHA:2588 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Rhizomelia, Redundant skin, Depressed nasal bridge, Acanthosis nigricans, Tibial bowing, Femoral ... |
OMIM:616482 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Syndactyly, Aganglionic megacolon, Dental crowding, Postaxial polydact... |
OMIM:209900 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Dental crowding, Anteverted n... |
ORPHA:261323 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Micrognathia, Inflammation of the large intestine, Bilateral talipes equinovarus, Rectovaginal fi... |
OMIM:619708 |
Kindler Syndrome |
|
Anal stenosis, Esophageal stenosis, Phimosis, Carious teeth, Palmoplantar hyperkeratosis, Gingivi... |
OMIM:173650 |
Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
Hypophosphatasia, Infantile |
|
Death in infancy, Micromelia, Abnormality of the dentition, Bowing of the legs, Polyhydramnios, S... |
OMIM:241500 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Dental crowding, Hypospadias, Micrognathia, Precoci... |
ORPHA:96182 |
Campomelic Dysplasia |
|
Irregular dentition, Anterior tibial bowing, Polyhydramnios, Micrognathia, Delayed epiphyseal oss... |
OMIM:114290 |
Congenital Tracheal Stenosis |
|
Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Tracheoesophageal fistula, Oligohydra... |
ORPHA:141127 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Dysphagia, Esophageal web, Pallor, Narro... |
ORPHA:54028 |
Cholesteryl Ester Storage Disease |
|
Pruritus, Esophageal varix |
ORPHA:75234 |
Heterotaxy, Visceral, 1, X-Linked |
|
Absence of the sacrum, Congenital hip dislocation, Polyhydramnios, Posteriorly placed anus, Myelo... |
OMIM:306955 |
Prader-Willi Syndrome |
|
Small scrotum, External genital hypoplasia, Polyhydramnios, Downturned corners of mouth, Clitoral... |
OMIM:176270 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis |
ORPHA:2841 |
Bethlem Myopathy |
|
Scapular winging, Camptodactyly of finger, Interphalangeal joint contracture of finger, Elbow fle... |
ORPHA:610 |
Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Micromelia |
ORPHA:85175 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova... |
OMIM:601356 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C... |
ORPHA:968 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Sparse scalp hair, Hypospadias, Prominent nasal bridge, Si... |
OMIM:223370 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Micrognathia, Hyperkeratosis, Hammertoe, Adenocarcinoma of the colon, Cervix cancer |
OMIM:620189 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Dental crowding, Cutaneous finger syndactyly, Ch... |
OMIM:219000 |
Aspergillosis |
|
Eosinophilia, Nasal congestion, Abnormal long bone morphology, Pleural effusion, Abnormal esophag... |
ORPHA:1163 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
Zttk Syndrome |
|
Curly hair, Depressed nasal bridge, Abnormality of the dentition, Sparse eyebrow, Submucous cleft... |
OMIM:617140 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Overlapping toe, Highly arched eyebrow, Tapered finger, Supernumerary nipple, Cryptorchidism, 2-3... |
OMIM:618653 |
Esophageal Atresia |
|
Barrett esophagus, Abnormal external genitalia, Intestinal malrotation, Choanal atresia, Polyhydr... |
ORPHA:1199 |
Renal Agenesis, Bilateral |
|
Non-midline cleft lip, Depressed nasal ridge, Tracheoesophageal fistula, Cleft palate, Sirenomeli... |
ORPHA:1848 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... |
OMIM:249700 |
Becker Nevus Syndrome |
|
Micromelia, Supernumerary nipple, Hypoplastic labia minora, Abnormal tibia morphology, Upper limb... |
ORPHA:64755 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Eosinophilia, Erythematous oral mucosa, Chronic mucocutaneous candidiasis, Furrowed ton... |
OMIM:158310 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Micromelia |
ORPHA:2772 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Spina bifida occulta, Anal atresia |
OMIM:617466 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Psoriasiform dermatitis, Intestinal malrotation, Polyhydramnios, Jejunoileal ulce... |
ORPHA:436252 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Lateral humeral condyle aplasia, Fibular hypoplasia... |
OMIM:164900 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Arachnodactyly, Widely spaced teeth |
OMIM:619092 |
Pancreatic insufficiency, combined exocrine |
|
Anasarca, Anal atresia |
OMIM:260450 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Hypospadias, Micrognathia, Short distal phalanx of the 5th finger, Downturned corners... |
OMIM:180860 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Chapped lip, Recurrent bacterial skin infections, Psoriasiform dermatitis, Anal fissure, Pustule,... |
ORPHA:294023 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Brachydactyly, Rhizomelia, Anteverted nares, Depressed nasal bridge, Abnormality of the dentition... |
OMIM:271510 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Dental crowding, Single transverse palmar crease, Intern... |
OMIM:619503 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Sparse eyelashes, Carious teeth, Esophageal stricture, Palmoplantar hyperkerat... |
OMIM:224230 |
Pelviscapular Dysplasia |
|
Redundant neck skin, Short femur, Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic i... |
ORPHA:93333 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia... |
OMIM:212780 |
Simpson-Golabi-Behmel Syndrome |
|
Hypoplasia of penis, Congenital hip dislocation, Polyhydramnios, High, narrow palate, Clinodactyl... |
ORPHA:373 |
Doors Syndrome |
|
Short lingual frenulum, Polyhydramnios, Abnormal finger morphology, Low anterior hairline, Downtu... |
ORPHA:79500 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
Mycetoma |
|
Recurrent bacterial skin infections, Abnormality of the hand, Abnormal forearm bone morphology, A... |
ORPHA:2583 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Unilateral cryptorchidism, Depressed nasal bridge, Micrognathia, Bilateral cryptorchidism, Narrow... |
OMIM:613457 |
Beta-Ureidopropionase Deficiency |
|
Bifid scrotum, Anal atresia |
OMIM:613161 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Abnormality of the dentition, Esophageal stricture, Palmoplantar hyperkeratosis, Premature grayin... |
OMIM:613989 |
Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Coxa valga, Gingival overgrowth, Dysphagia, Hypoplastic vertebral bodies, Narr... |
OMIM:230600 |
Xeroderma Pigmentosum |
|
Alopecia, Flat nasal alae, Abnormality of the dentition, Cryptorchidism, Thickened skin, Erythema... |
ORPHA:910 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Limb undergrowth, Gastroesophageal reflux, Single transverse palmar crease |
ORPHA:79243 |
Acute Radiation Syndrome |
|
Hyperkeratosis, Inflammatory abnormality of the skin, Scaling skin, Skin ulcer |
ORPHA:454831 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Metaphyseal dysplasia, Radial bowing, Broad hallux, Rhizomelia, Bowed humerus, Depressed nasal br... |
OMIM:618019 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Calcaneovalgus deformity, Prominent fingertip pads, Thick nasal alae, Alopec... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Calcaneovalgus deformity, Prominent fingertip pads, Thick nasal alae, Alopec... |
ORPHA:363958 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Anteverted nares, Postaxial hand polydactyly, Esophageal ... |
OMIM:216360 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Cleft soft palate, Polyhydramnios, Cutis laxa, Talipes equinovarus, Follicular hyperkeratosis, Um... |
OMIM:614557 |
Immunodeficiency 12 |
|
Skin rash, Esophageal stricture, Clubbing, Cheilitis, Death in adolescence, Recurrent aphthous st... |
OMIM:615468 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Arachnodactyly, Abnormality of the hand, Micrognathia, Synophrys, Dis... |
ORPHA:536545 |
Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker... |
OMIM:601214 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Erosion of oral mucosa, Recurrent skin infections, Anal fissure, Oral mucosal blisters, Carious t... |
ORPHA:79408 |
Glycogen Storage Disease Iv |
|
Polyhydramnios, Edema, Esophageal varix, Hydrops fetalis, Ascites |
OMIM:232500 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Esophageal varix, Umbilical hernia, Dystrophic toenail, Brachydactyly |
OMIM:616028 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, S... |
ORPHA:1772 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Anal stenosis, Hypospadias, Wide nasal bridge, Oligodontia, Short philt... |
OMIM:180500 |
Ulbright-Hodes Syndrome |
|
Micrognathia, High palate, Phocomelia, Abnormal penis morphology, Short metacarpal, Abnormal exte... |
ORPHA:3404 |
Diamond-Blackfan Anemia |
|
Hypospadias, Cleft soft palate, Depressed nasal bridge, Absent thumb, Nonimmune hydrops fetalis, ... |
ORPHA:124 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... |
OMIM:171480 |
Mirage Syndrome |
|
Hypospadias, Rocker bottom foot, Hypergonadotropic hypogonadism, Radial club hand, Esophageal str... |
OMIM:617053 |
Atypical Werner Syndrome |
|
Micrognathia, Abnormal hair whorl, Premature graying of hair, Finger clinodactyly, Short palm, Al... |
ORPHA:79474 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Short lingual frenulum, Single transverse palmar crease, Proximal place... |
OMIM:261540 |
Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Anteverted nares, Polyhydramnios, Preaxial hand polydactyly, Duplication of phalanx o... |
OMIM:263630 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Abnormal epiphysis morphology, Micromelia |
ORPHA:93283 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Depressed nasal bridge, Absent nipple, Cubitus valgus, Wi... |
OMIM:104350 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Skin rash, Pustule, Hyperkeratosis, Joint swelling, Stomatitis |
OMIM:612852 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Micrognathia, Sparse eyebrow, Cryptorchidism, Short nose, Cleft palate, An... |
ORPHA:3338 |
Hennekam Syndrome |
|
Abnormal oral mucosa morphology, Lymphedema, Hydrops fetalis, Short philtrum, Finger syndactyly, ... |
ORPHA:2136 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Congenital hip dislocation, Single transverse palmar crease, Polyhydramnios,... |
OMIM:216340 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Depressed nasal bridge, Umbilical hernia, High palate |
OMIM:614520 |
Ring Chromosome 21 Syndrome |
|
Syndactyly, Small hand, Narrow palm, Azoospermia, Clinodactyly |
ORPHA:1445 |
Menke-Hennekam Syndrome 1 |
|
Micrognathia, Deep philtrum, Depressed nasal ridge, Cutaneous syndactyly of toes, High palate, Sh... |
OMIM:618332 |
Ramon Syndrome |
|
Delayed eruption of teeth, Enlarged labia minora, Gingival fibromatosis, Narrow palate, Hyperkera... |
OMIM:266270 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Congenital hip dislocation, Dental crowding, Arachnodactyly, Depress... |
OMIM:225400 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Epistaxis, Abnormal dental enamel morpholo... |
ORPHA:79430 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hyperkeratosis with erythema, Hypoplasia of the nasal bone, Epiphyseal stippling... |
OMIM:118650 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Thick eyebrow, Broad nasal tip, Thickened cortex of long bones, Small hand, Wide nasal base, Depr... |
ORPHA:488434 |
Congenital Varicella Syndrome |
|
Micromelia |
ORPHA:291 |
Solitary Rectal Ulcer Syndrome |
|
Hematochezia, Rectal prolapse, Anal fissure, Stercoral ulcer |
ORPHA:209964 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Microm... |
ORPHA:1675 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Scapular winging, Abnormality of hair texture, Micrognathia, Thickened skin, Synophrys, Dental ma... |
ORPHA:73223 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation |
ORPHA:1201 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Rhizomelia, Metaphyseal widening, Irregular epiphyses, Absent nasal bridge, Short finger, Mesomel... |
OMIM:612813 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Depressed nasa... |
OMIM:300990 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Abnormal pelvis bone morphology, Aganglionic megacolon, Camptodactyly o... |
ORPHA:2273 |
Kanzaki Disease |
|
Telangiectasia of the oral mucosa, Depressed nasal bridge, Lymphedema, Thick lower lip vermilion,... |
OMIM:609242 |
Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... |
OMIM:163400 |
Silver-Russell Syndrome 3 |
|
Syndactyly, Ambiguous genitalia, Unilateral cryptorchidism, Small hand, Clinodactyly of the 5th f... |
OMIM:616489 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, High palate, Sho... |
ORPHA:798 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheoesophageal fistula, Intestinal atresia |
ORPHA:93941 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Underdeveloped nasal alae, Absent radius, Patellar aplasia, Short foot, Hand polydact... |
OMIM:135750 |
Short Stature With Microcephaly And Distinctive Facies |
|
Microretrognathia, Syndactyly, Short digit, Sparse scalp hair, Anteverted nares, Depressed nasal ... |
OMIM:615789 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Short nose, Sparse hair, Clinodactyly, Hirsutism |
OMIM:618087 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters |
OMIM:619817 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly |
OMIM:619091 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Broad eyebrow, Hypospadias, Anteverted nares, Choanal atresia, Micrognathia, Cleft li... |
OMIM:616975 |
Birk-Barel Syndrome |
|
Microretrognathia, Tented upper lip vermilion, Single transverse palmar crease, Highly arched eye... |
OMIM:612292 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Premature thelarche, Widely spaced teeth, Gastroesophageal reflux, Micropenis, Hypospadias, Cleft... |
ORPHA:268261 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Prominent nose, Abnormal carpal morphology, Madelung deformity, Bilateral breast hypoplasia, Hip ... |
ORPHA:319675 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Anal fissure, Eczema, Perianal abscess, Oral ulcer, Ulcerative colitis, Crohn's disease, Pleural ... |
OMIM:618935 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Enlarged polycystic ovaries, Furrowed tongue, H... |
ORPHA:201 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Micromelia, Thickened skin, Postaxial hand polydactyly, Hypoplasia of the smal... |
OMIM:200995 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Esophageal stenosis, Vaginal neoplasm, Hypoperistalsis, Esophageal neoplasm, Gastroesophageal ref... |
ORPHA:1018 |
Common Variable Immunodeficiency |
|
Gastrointestinal stroma tumor, Anal atresia, Purpura |
ORPHA:1572 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Dry skin, Hypereosinophilia, Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617388 |
Spinocerebellar Ataxia 34 |
|
Erythroderma, Epidermal hyperkeratosis |
OMIM:133190 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate, Micrognathia |
OMIM:613857 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypospadias, Cleft soft palate, Anteverted nares, Highly arched eyebrow, Micrognathia, Cryptorchi... |
ORPHA:2282 |
Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, Anteverted nares, Depressed nasal bridge, Sparse axillary hair, Palpebral edem... |
OMIM:181270 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Gastroesophageal reflux, Micropeni... |
OMIM:134780 |
Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Micrognathia, Tetraphocomelia, High palate, Phocomelia, Sparse hair, Wrist flexio... |
OMIM:268300 |
Osteogenesis Imperfecta, Type X |
|
Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Micrognathia, Pyloric stenosis, Ti... |
OMIM:613848 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Tibial bowing, Femoral bowing, Short ... |
OMIM:304120 |
Chronic Graft Versus Host Disease |
|
Alopecia, Phimosis, Thickened skin, Esophageal stricture, Erythema, Xerostomia, Skin ulcer, Abnor... |
ORPHA:99921 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Skin rash, Bowing of the legs, Hypoplastic ilia... |
ORPHA:1855 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Hypospadias, Narrow nasal tip, Prominent nasal bri... |
ORPHA:464306 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnor... |
ORPHA:2363 |
Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Thick eyebrow, Prominent nasal bridge, Female pseudohermaphroditism, Highly ar... |
ORPHA:1519 |
Immunodeficiency 23 |
|
Allergic rhinitis, Eosinophilia, Eczema, Esophageal stricture, Erythema, Chronic mucocutaneous ca... |
OMIM:615816 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Polyhydramnios, Preaxial polydactyly, ... |
OMIM:615503 |
Coxoauricular Syndrome |
|
Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Micromelia |
ORPHA:1508 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Short lingual frenulum, Precocious puberty, Bulbous nose, Anteriorly placed anus, Widely-spaced m... |
OMIM:608980 |
Reactive Arthritis |
|
Pustule, Hyperkeratosis, Inflammation of the large intestine, Joint swelling, Recurrent aphthous ... |
ORPHA:29207 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Cleft ma... |
ORPHA:508488 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly |
OMIM:604757 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Metaphyseal widening, Delayed epiphyseal ossification, Flared metaphysis, Sho... |
ORPHA:93352 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Short ribs, Hypoplasia of deltoid ... |
OMIM:173800 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Premature graying of hair, Esophageal varix |
OMIM:617341 |
Bronchogenic Cyst |
|
Dysphagia, Abnormal esophagus morphology, Abnormal stomach morphology |
ORPHA:2357 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Depressed nasal ridge |
ORPHA:1861 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Abnormality of the gastrointestinal tract, Anal stenosis, Spina bifida, Bifid uter... |
ORPHA:322 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad eyebrow, Hypospadias, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Sparse eye... |
ORPHA:495875 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
Manitoba Oculotrichoanal Syndrome |
|
Anal stenosis, Broad nasal tip, Bifid nasal tip, Anteriorly placed anus, Vaginal atresia, Abnorma... |
OMIM:248450 |
Familial Keratoacanthoma |
|
Hyperkeratosis, Skin ulcer |
ORPHA:493 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Limite... |
OMIM:605432 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Nail dystrophy, Esophageal stenosis, Oral leukoplakia, Abnormality of the dentition |
OMIM:616553 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li... |
OMIM:119500 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Depressed nasal bridge, Lymphedema, Lip telangiectasia, Hyperk... |
ORPHA:79280 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly |
OMIM:615284 |
Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate, Spina bifida, Micrognathia |
ORPHA:99742 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
Wolman Disease |
|
Ascites, Esophageal varix, Steatorrhea |
ORPHA:75233 |
Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate, Oral-pharyngeal dysphagia |
ORPHA:99772 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Pruritus, Esophageal varix, Gastric varix, Hepatocellular carcinoma,... |
ORPHA:64743 |
Oculocutaneous Albinism Type 1A |
|
Albinism, Hyperkeratosis, Hypopigmentation of hair, Thickened skin |
ORPHA:79431 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Anal stenosis, Missing ribs, Myelomeningocele, Ectopic anus, Spina bifida occulta |
OMIM:613686 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Anteverted nare... |
OMIM:619879 |
Mednik Syndrome |
|
Death in infancy, Jejunal atresia, Erythema, Death in childhood, Ichthyosis, Neonatal death, Volv... |
OMIM:609313 |
Portal Hypertension, Noncirrhotic, 1 |
|
Esophageal varix |
OMIM:617068 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Rhizomelia, Absent nasal bridge, Mesomelia, Broad thumb, Brachydactyly |
ORPHA:171866 |
White-Kernohan Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, U... |
OMIM:619426 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Recurrent skin infections, Polyhydramnios, Oral mucosal blisters, Congenital pyloric atresia, Nai... |
ORPHA:79403 |
Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Clinodactyly, Short finger |
OMIM:300049 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Ascites, Acholic ... |
OMIM:615710 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Mi... |
ORPHA:1765 |
Proteus Syndrome |
|
Lymphedema, Abnormal finger morphology, Clinodactyly of the 5th finger, Abnormality of the wrist,... |
ORPHA:744 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Occipital encephalocele, Broad hallux, Hamartoma of tongue, Micro... |
OMIM:615948 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Sparse scalp hair, Esophageal stricture, Pancolitis, Inflammation of the large intestine, Nail dy... |
OMIM:620133 |
Chand Syndrome |
|
Curly hair, Short fifth metatarsal, Depressed nasal bridge, Cleft palate, Agenesis of permanent t... |
ORPHA:1401 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Chronic gastritis, Single transverse palmar crease, Prominent nose, Bilateral cryptorchidism, Mic... |
OMIM:150230 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Long philtrum, Short nos... |
OMIM:616430 |
Leprosy |
|
Absent eyebrow, Autoamputation of digits, Alopecia, Epistaxis, Testicular mass, Penetrating foot ... |
ORPHA:548 |
Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:28378 |
Benign Schwannoma |
|
Intestinal polyposis, Nasal polyposis, Abnormal fibula morphology, Abnormal parotid gland morphol... |
ORPHA:252164 |
Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Anal stenosis, Bifid nasal tip, Abnormal hair pattern |
ORPHA:2717 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Intestinal malrotation, Cleft soft palate, Convex nasal ridge, Short nose, Genu valgum,... |
OMIM:619321 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Aplasia of the nasal bone, Streak ovary, Jejunal atresia, Hypospadias, Ileal atresia,... |
OMIM:618820 |
Fraser Syndrome 3 |
|
Wide nose, Hypoplasia of penis, Small scrotum, Nonimmune hydrops fetalis, Micrognathia, Short toe... |
OMIM:617667 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Ascites, Esophageal varix, Nonimmune hydrops fetalis, Polyhydramnios |
ORPHA:367 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Native American Myopathy |
|
Micrognathia, Cryptorchidism, Cleft palate, Downturned corners of mouth, High palate, Talipes equ... |
ORPHA:168572 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
Fabry Disease |
|
Malabsorption, Lymphedema, Thick lower lip vermilion, Abnormal femur morphology, Hyperkeratosis, ... |
ORPHA:324 |
Bloom Syndrome |
|
Syndactyly, Prominent nose, Cryptorchidism, Recurrent upper respiratory tract infections, Agenesi... |
OMIM:210900 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Sparse scalp hair, Arachnodactyly, Dental crowding, Esophageal varix... |
ORPHA:394 |
Hydrolethalus Syndrome 1 |
|
Median cleft lip, Hypospadias, Polyhydramnios, Bifid uterus, Micrognathia, Preaxial hand polydact... |
OMIM:236680 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly, Pallor |
OMIM:615631 |
Sclerosteosis 1 |
|
Syndactyly, Depressed nasal bridge, 2-3 finger syndactyly, Dental malocclusion, Wide nasal bridge... |
OMIM:269500 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Microretrognathia, Bowing of the long bones, Rhizomelia, Tooth agenesis, Short... |
OMIM:616229 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Male pseudohermaphroditism, Abnormal shoulder mor... |
ORPHA:1422 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Femoral bowing, Anteriorly placed anus, Choanal... |
OMIM:201750 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur ... |
ORPHA:666 |
Viss Syndrome |
|
Chronic gastritis, Polyhydramnios, Micrognathia, High, narrow palate, High palate, Gastroesophage... |
OMIM:619472 |
Grange Syndrome |
|
Syndactyly, Short palm |
ORPHA:79094 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Esophageal varix, Gastrointes... |
ORPHA:131 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head |
OMIM:605274 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Lymphedema, Orchitis, Epididymitis, Hypereosinophilia, Vagin... |
ORPHA:2035 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis, Nail dystrophy |
OMIM:615190 |
Fucosidosis |
|
Generalized hyperkeratosis, Abnormality of the dentition |
ORPHA:349 |
Pyknoachondrogenesis |
|
Palpebral edema, Micromelia, Short iliac bones, Abnormal iliac wing morphology, Depressed nasal r... |
ORPHA:3003 |
Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe |
OMIM:181510 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Polyhydramnios, Micrognathia, High palate, Gastroesophageal reflux, Syndactyly, ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Polyhydramnios, Micrognathia, High palate, Gastroesophageal reflux, Syndactyly, ... |
ORPHA:353277 |
Wiedemann-Rautenstrauch Syndrome |
|
Synophrys, Wide penis, Downturned corners of mouth, Hypoplastic vertebral bodies, Short philtrum,... |
ORPHA:3455 |
Joubert Syndrome 33 |
|
Syndactyly |
OMIM:617767 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Hypospadias, External genital hypoplasia, Postaxial polydactyly, Vaginal atresia |
OMIM:605231 |
Hartsfield Syndrome |
|
Syndactyly, Wide nose, Median cleft lip, Hypospadias, Cleft upper lip, Cryptorchidism, Cleft pala... |
OMIM:615465 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acantholysis, Esophageal stricture, Erythema, Dysphagia |
ORPHA:36426 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Micromelia, Male pseudohermaphroditism, Short phalanx of finger, Brachydactyly |
OMIM:600092 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Perianal dermatitis, Cleft palate... |
OMIM:619573 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Inflammatory abnormality of the skin, Skin rash, Trichiasis, Acantholy... |
ORPHA:95455 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Narrow nasal bridge, Dental crowding, Prominent nose, High, narrow palate, Narrow ... |
OMIM:300967 |
Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus |
OMIM:217100 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Depressed nasal ridge, Gastroesophageal reflux, Clinodactyly of the 5th fing... |
ORPHA:1606 |
Camptobrachydactyly |
|
Syndactyly, Septate vagina, Short toe, Hand polydactyly, Congenital finger flexion contractures, ... |
OMIM:114150 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypospadias, Ovotestis, Cleft lip, Cleft palate, Sex reversal, Oligohydramnios |
OMIM:611812 |
Cholesteryl Ester Storage Disease |
|
Death in infancy, Esophageal varix, Steatorrhea |
OMIM:278000 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Congenital bilateral hip dislocation, Cryptorchidism |
ORPHA:404451 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Synophrys, Depressed nasal ridge, Orofacial cleft, High palate, Gastroesophageal reflux, Clinodac... |
OMIM:607872 |
46,Xy Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... |
ORPHA:325345 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Bifid uterus, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2736 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Hypospadias, Tracheoesophageal fi... |
OMIM:601346 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Skin rash, Eczema, Erythema nodosum, Aphthous ulcer, Esophageal varix, Oral ulcer, Skin ulcer, Re... |
OMIM:615688 |
Stüve-Wiedemann Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Micromelia, Abnormality of the dentition, Meta... |
ORPHA:3206 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Cleft soft palate, Choanal atresia, Micrognathia, Cryptorchidism, Cleft p... |
OMIM:154500 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Dental crowding, Cleft hard palate, Gastrointestinal dysmotility, Calcaneovalgus d... |
ORPHA:2152 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Short philtrum, Webb... |
ORPHA:261537 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hematemesis, Esophageal varix, Dehydration, Neonatal death, Oligohydramnios |
OMIM:263200 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Pruritus, Esophageal varix |
OMIM:619662 |
Loeys-Dietz Syndrome 2 |
|
Syndactyly, Dermal translucency, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Eosi... |
OMIM:610168 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation |
OMIM:277320 |
Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, Pruritus, Esophageal vari... |
OMIM:301068 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Skin ulcer, Neoplasm of the rectum, Ne... |
ORPHA:424016 |
Neurooculorenal Syndrome |
|
Intestinal malrotation, Short hallux, Highly arched eyebrow, Micrognathia, Cryptorchidism, Anteri... |
OMIM:620305 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Sparse eyebrow, Thin vermilion border, High palate, Polydactyly, Sparse hair, Overhan... |
OMIM:619869 |
Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Anteriorly placed anus, Pericardial effusion, Inflammatory abnormality of the skin |
ORPHA:26793 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Single transverse palmar crease, Ovotestis, Cryptorchidism, ... |
ORPHA:199310 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Short philtrum, Webb... |
ORPHA:261552 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Wide nose, Abnormal fallopian tube morphology, Abnormal dental enamel ... |
ORPHA:2556 |
Bladder Exstrophy |
|
Hypoplasia of penis, Intestinal malrotation, Epispadias, Abnormality of the clitoris, Umbilical h... |
ORPHA:93930 |
Cirrhosis, Familial |
|
Ascites, Esophageal varix |
OMIM:215600 |
Bladder Exstrophy And Epispadias Complex |
|
Anteriorly placed anus, Epispadias, Abnormal pelvic girdle bone morphology, Bifid clitoris |
OMIM:600057 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Erosion of oral mucosa, Alopecia, Recurrent skin infections, Abnormal oral mucosa morphology, Abn... |
ORPHA:79404 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Clinodactyly |
ORPHA:2169 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Esophageal varix, Hepatocellular adenoma, Polycystic ovaries |
ORPHA:264580 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Small scrotum, Intestinal malrotation, Esophageal varix, Anasarca, Gastroesophageal reflux, High ... |
OMIM:613658 |
Arima Syndrome |
|
Postaxial hand polydactyly, Esophageal varix, Postaxial foot polydactyly, Wide mouth, Occipital m... |
OMIM:243910 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Spontaneous, recurrent epistaxis, Esophageal varix, Skin ulcer, Azoospermia, Gastr... |
ORPHA:2072 |
Wilson Disease |
|
Edema, Hepatocellular carcinoma, Esophageal varix, Pedal edema, Dysphagia, Hyposmia, Ascites |
OMIM:277900 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Caroli Disease |
|
Pruritus, Cholangiocarcinoma, Ascites, Esophageal varix |
ORPHA:53035 |
Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Macrodactyly, Lymphedema, Hand oligodactyly, Hand polydactyly |
OMIM:149000 |
Slc39A8-Cdg |
|
Limb undergrowth, Cutaneous syndactyly of toes, Elbow flexion contracture |
ORPHA:468699 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Micrognathia, Depressed nasal ridge, Esophageal ... |
ORPHA:731 |
Dyskeratosis Congenita, X-Linked |
|
Decreased testicular size, Alopecia, Hypospadias, Sparse eyelashes, Phimosis, Carious teeth, Cryp... |
OMIM:305000 |
Osteogenesis Imperfecta, Type Vii |
|
Death in infancy, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Mic... |
OMIM:610682 |
Hereditary Hemorrhagic Telangiectasia |
|
Intestinal polyposis, Esophageal varix, Epistaxis, Gastrointestinal hemorrhage |
ORPHA:774 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Death in infancy, Anteverted nares, Hypospadias, Highly arched eyebrow, Micrognathia, Low anterio... |
OMIM:220111 |
Lysosomal Acid Lipase Deficiency |
|
Pruritus, Esophageal varix, Dehydration, Steatorrhea, Ascites |
ORPHA:275761 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Syndactyly, Anteverted nares, Depressed nasal bridge, Postaxial polydactyly, Edema, Polyhydramnio... |
OMIM:619534 |
Barrett Esophagus |
|
Gastroesophageal reflux, Esophageal carcinoma, Barrett esophagus, Esophageal ulceration |
OMIM:614266 |
Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
Caroli Syndrome |
|
Cholangiocarcinoma, Pruritus, Hematemesis, Esophageal varix, Melena |
ORPHA:480520 |
Senior-Boichis Syndrome |
|
Ascites, Esophageal varix |
ORPHA:84081 |
Relapsing Polychondritis |
|
Alopecia, Erythema, Anteriorly placed anus, Recurrent aphthous stomatitis, Purpura |
ORPHA:728 |
Progeroid Short Stature With Pigmented Nevi |
|
Irregular dentition, Hypospadias, Allergic rhinitis, Chordee, Hypodontia, Esophageal ulceration |
OMIM:176690 |
Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Esophageal varix |
ORPHA:309854 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly, Hydrops fetalis |
OMIM:224120 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Microcolon, Ileal atresia, Oligohydramnios |
OMIM:619351 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Anteriorly placed anus, Cryptorchidism, Rectoperineal fistula |
OMIM:618748 |
Grange Syndrome |
|
Finger clinodactyly, Syndactyly, Brachydactyly |
OMIM:602531 |
Alström Syndrome |
|
Abnormality of dental color, Hypoplasia of the Leydig cells, Gingivitis, Gastroesophageal reflux,... |
ORPHA:64 |
Chand Syndrome |
|
Curly hair, Commissural lip pit |
OMIM:214350 |