Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis |
OMIM:146750 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis |
ORPHA:139414 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis |
OMIM:613000 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis |
ORPHA:735 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Aplasia/Hypoplasi... |
ORPHA:141152 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Perifollicular hyperkeratosis, Spars... |
ORPHA:505 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis |
OMIM:101850 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Generalized hirsutism |
ORPHA:2297 |
Dermatoleukodystrophy |
|
Hyperkeratosis |
ORPHA:1659 |
Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Pierre Robin Syndrome And Oligodactyly |
|
Hand oligodactyly, Micrognathia |
OMIM:172880 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Telecanthus, Duplication of thumb phalanx, Tarsal synostosis, Micro... |
ORPHA:2756 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Nail dystrophy |
ORPHA:79503 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis |
OMIM:101900 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le... |
OMIM:249710 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
Osseous Heteroplasia, Progressive |
|
Limb undergrowth |
OMIM:166350 |
Acrorenal Syndrome |
|
Hand oligodactyly |
OMIM:102520 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Wide anterior f... |
OMIM:201170 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Respiratory distress, Bowing of the long bones, Death in infancy, Micr... |
ORPHA:166272 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Ptosis, Abnormal dental enamel morphol... |
ORPHA:3258 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Micromelia, Micrognathia, Short long bone, Flared elbow metaphyses, Limb un... |
ORPHA:1423 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Sandal gap, Micromelia, Micrognathia, Bifid humerus, Lacunar halos around chond... |
OMIM:256050 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal metacarpal morphology, Cli... |
ORPHA:3104 |
Anonychia With Flexural Pigmentation |
|
Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis |
ORPHA:69125 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Humeroradial synostosis, Arachnodactyly, Oligodactyly |
OMIM:614416 |
Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies |
|
Micrognathia, 2-3 toe syndactyly, Upslanted palpebral fissure, Short 5th finger, Long eyelashes, ... |
OMIM:618608 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... |
ORPHA:93323 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal shoulder morphology, Brachydactyly, Micrognathia, Mesomelia |
ORPHA:1277 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Arthrogryposis, Distal, Type 7 |
|
Micrognathia, Metatarsus adductus, Trismus, Hip dislocation, Cutaneous syndactyly of toes, Hammer... |
OMIM:158300 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... |
OMIM:619751 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, For... |
OMIM:251230 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... |
ORPHA:93320 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Abnormality of the hand, Almond-shaped palpebral fissure, Frontal encephalocele, Abnormality of t... |
ORPHA:521308 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
Acromegaloid Facial Appearance Syndrome |
|
Telecanthus, Highly arched eyebrow, Micrognathia, Tapered finger, Synophrys, Large hands, Blephar... |
OMIM:102150 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Epicanthus, Micromelia... |
ORPHA:1240 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
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 |
Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:617571 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Hypertrichosis Cubiti |
|
Rhizomelia, Abnormal nasolacrimal system morphology, Micromelia, Abnormal eyelid morphology, Abno... |
ORPHA:2220 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Telecanthus, Postaxial polydac... |
OMIM:617102 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... |
ORPHA:1307 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Pseudoachondroplasia |
|
Metaphyseal widening, Delayed epiphyseal ossification, Abnormal femoral epiphysis morphology, Sho... |
ORPHA:750 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Respiratory distress, Short metacarpal, Brachydactyly, Death in infanc... |
OMIM:184260 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Follicular hyperkeratosis, Sparse hair,... |
OMIM:607903 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies |
|
Broad eyebrow, Epicanthus, Overlapping toe, Broad hallux, Sandal gap, Micrognathia, Small hand, U... |
OMIM:617755 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Malar flattening, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb u... |
OMIM:118651 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617526 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal metacarpal morphol... |
ORPHA:2631 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis |
ORPHA:79399 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Erythroderma |
OMIM:615024 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t... |
ORPHA:2496 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Neonatal respiratory distress, Metaphyseal widening, Squared iliac bones, Patent d... |
OMIM:618961 |
Tetramelic Monodactyly |
|
Split foot, Split hand, Foot monodactyly, Hand monodactyly |
OMIM:187510 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... |
ORPHA:1350 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea, Micrognathia, Temporomandibular joint ankylosis, Dental malocclusion... |
OMIM:614669 |
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 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Temporomandibul... |
ORPHA:2741 |
Terminal Osseous Dysplasia |
|
Syndactyly, Ptosis, Epicanthus, Telecanthus, Camptodactyly of finger, Abnormal hand bone ossifica... |
OMIM:300244 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Moebius Syndrome |
|
Respiratory distress, Syndactyly, Brachydactyly, Epicanthus, Micrognathia, Split hand, Congenital... |
OMIM:157900 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Micrognathia, Dyspnea, Respiratory failure, Mandibular aplasia, Retrognathia |
ORPHA:1832 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
Olmsted Syndrome 2 |
|
Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa... |
OMIM:619208 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Clinodactyly, Micrognathia |
OMIM:300934 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Polydactyly, Hypogonadism, External genital hypoplasia |
OMIM:615993 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Short foot, Upslanted palpebral fissure, Clinodactyly of the 5th finger, Umbilical hernia, Retrog... |
OMIM:619758 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Ptosis, Respiratory insufficiency due to muscle weakness, Micrognathia |
OMIM:300580 |
White Sponge Nevus 2 |
|
Hyperparakeratosis, Edema |
OMIM:615785 |
Acrocephalopolydactyly |
|
Limb undergrowth, Epicanthus, Short long bone, Brachydactyly |
ORPHA:221054 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... |
ORPHA:2639 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Hip contracture, Death in infancy, Toe syndactyly, Elbow flexion contracture, 2-3 toe syndactyly,... |
OMIM:616809 |
Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb morphology, Patent ductus arteriosus,... |
ORPHA:1597 |
Lymphatic Malformation 4 |
|
Hyperkeratosis, Pedal edema, Lymphedema |
OMIM:615907 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Cicatricial lagophthalmos, Ankyloblepharon, Hypoplastic ... |
OMIM:263650 |
Perching Syndrome |
|
Respiratory distress, Camptodactyly |
OMIM:617055 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair, Follicular hyperkeratosis |
OMIM:618546 |
Vohwinkel Syndrome, Variant Form |
|
Orthokeratosis, Hyperkeratosis, Parakeratosis, Honeycomb palmoplantar hyperkeratosis |
OMIM:604117 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Genu ... |
OMIM:614078 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Rocker bottom foot, Micrognathia, Respiratory insufficienc... |
ORPHA:1143 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal... |
OMIM:215045 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera... |
OMIM:300918 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... |
OMIM:602418 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplast... |
OMIM:151210 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Synophrys, Short met... |
ORPHA:1278 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Micrognathia, Split hand, Split foot, Malar flattening |
OMIM:183700 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Micromelia |
OMIM:273680 |
Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n... |
OMIM:206920 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma |
OMIM:133200 |
Rhizomelic Chondrodysplasia Punctata |
|
Epicanthus, Rhizomelia, Epiphyseal stippling, Abnormal epiphysis morphology, Limb undergrowth, Ab... |
ORPHA:177 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Broad metacarpals, Hypo... |
ORPHA:56304 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Respiratory in... |
OMIM:187601 |
Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Micromelia |
ORPHA:85175 |
Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Tracheomalacia, Del... |
OMIM:156550 |
Rhizomelic Syndrome |
|
Rhizomelia, Micrognathia, Bifid distal phalanx of the thumb, Wide anterior fontanel, Hip dislocat... |
OMIM:268250 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Respiratory distress, Death in infancy, Hypospadias, Unilateral cryptorchidism, Bi... |
OMIM:300219 |
Whistling Face Syndrome, Recessive Form |
|
Epicanthus, Telecanthus, Shoulder flexion contracture, Micrognathia, Trismus, Elbow flexion contr... |
OMIM:277720 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Small scrotum, Cryptorchidism, Death in childhood, Micropenis |
OMIM:615597 |
Moynahan Syndrome |
|
Sparse hair, Hyperkeratosis, Alopecia |
ORPHA:2574 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Abnorma... |
ORPHA:429 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
Classic Mycosis Fungoides |
|
Alopecia, Skin rash, Eczema, Edema, Pruritus, Splenomegaly, Lymphadenopathy, Hyperkeratosis |
ORPHA:2584 |
Thoracomelic Dysplasia |
|
Elbow dislocation, Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morpholog... |
ORPHA:1803 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Hyperkeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Nail dystrophy |
OMIM:212360 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Micro... |
ORPHA:2633 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp... |
ORPHA:140896 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath... |
OMIM:227270 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Camptodactyly of finger, Respiratory insufficiency, Restrictive ventilatory... |
OMIM:614399 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Jeune Syndrome |
|
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Respiratory insufficiency, Postaxial foot... |
ORPHA:474 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Temporomandibular joint ankylosis, Lateral humeral ... |
OMIM:164900 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Telecanthus, Preaxial hand polydactyly, Hand oligodactyly, Retrognat... |
OMIM:165590 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Split foot, Split hand, Hand monodactyly |
OMIM:183800 |
Acquired Ichthyosis |
|
Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Recurrent skin infections |
ORPHA:454 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... |
ORPHA:1836 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Epicanthus, Long palm, Arachnodactyly, Missing ribs, Dyspnea, Respiratory f... |
ORPHA:2759 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Absent eyebrow, Epicanthus, Telecanthus, Arachnodactyly, Micrognathia, Dysp... |
ORPHA:2707 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... |
OMIM:249700 |
Pentasomy X |
|
Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Small hand, Short foot, Upslante... |
ORPHA:11 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Absent facial hair, Abnormality of... |
ORPHA:90368 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Micromelia, Missing ribs, Micrognathia, Flat acetabular roof, Large han... |
ORPHA:1801 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Nail dystrophy, Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeyco... |
OMIM:601952 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Occipital encephalocele, Talipes equinovarus |
OMIM:614209 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Elbow dislocation,... |
ORPHA:2249 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Syndactyly, Ptosis, Telecanthus, Neonatal respiratory distress, Proximal pl... |
OMIM:217980 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Short femur, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Achondrogenesis, Type Ib |
|
Micromelia, Hypoplastic ilia, Respiratory insufficiency, Stillbirth, Umbilical hernia, Short ribs... |
OMIM:600972 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Short palm, Micromelia, Coxa vara |
ORPHA:168555 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Epicanthus, Broad hallux, Highly arched eyebrow, Micrognathia, Carious teeth, Talon c... |
OMIM:613684 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Short palm, Respiratory distress, Micrognathia, Patent ductus arteriosus, Small hand, Upper limb ... |
OMIM:608799 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Pallister-Hall Syndrome |
|
Syndactyly, Natal tooth, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, ... |
OMIM:146510 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis |
OMIM:602723 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Nail dystrophy |
OMIM:175900 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Pterygium, Micromelia, Micrognathia, Elbow disloca... |
ORPHA:93329 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi... |
OMIM:601356 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara, Upper limb... |
ORPHA:93351 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... |
ORPHA:1263 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Limb undergrowth, Limited elbow extension, Bowing of the legs |
ORPHA:156728 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Cone-s... |
ORPHA:63446 |
Bazex Syndrome |
|
Parakeratosis, Edema, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dyst... |
ORPHA:166113 |
Laron Syndrome |
|
Limb undergrowth, Short long bone |
OMIM:262500 |
Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Limited elbow extension, Short metatarsal, Small hand, Short foot, ... |
OMIM:180870 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Telecanthus, Apnea, Micrognathia, Recurrent pneumonia, Pol... |
ORPHA:314655 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Syndactyly, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Hypoplasia... |
OMIM:617895 |
Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans |
ORPHA:409 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Abnormal respiratory motile cili... |
ORPHA:922 |
Peeling Skin Syndrome 6 |
|
Pruritus, Parakeratosis, Orthokeratosis, Atopic dermatitis |
OMIM:618084 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Radio-Renal Syndrome |
|
Respiratory distress, Micromelia, Micrognathia, Dyspnea, Hypoplasia of the radius, Abnormality of... |
ORPHA:3015 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... |
OMIM:614594 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... |
OMIM:617604 |
Diastrophic Dysplasia |
|
Bowing of the long bones, Camptodactyly of finger, Proximal placement of thumb, Micromelia, Elbow... |
ORPHA:628 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... |
OMIM:158000 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis |
OMIM:175800 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis... |
OMIM:194350 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Aplasia/Hypopla... |
ORPHA:971 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderm... |
OMIM:148700 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
Achondroplasia |
|
Rhizomelia, Bowing of the legs, Short proximal phalanx of finger, Hip joint hypermobility, Wide a... |
ORPHA:15 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C... |
ORPHA:968 |
Peeling Skin Syndrome 4 |
|
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy |
OMIM:607936 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... |
OMIM:608728 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, M... |
ORPHA:1865 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Advanced ... |
OMIM:269250 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph... |
ORPHA:2928 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormality of the hand, Abnormal thumb morphology... |
ORPHA:1842 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Stt3B-Cdg |
|
Respiratory distress, Cryptorchidism, Micropenis, Small scrotum |
ORPHA:370924 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, Encephalocel... |
OMIM:108720 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Respiratory distress, Hypoplasia of the maxilla, Short metatarsal, Eruptio... |
OMIM:166250 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Leukonychia |
OMIM:617525 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Bowing of the long bones, Micromelia, Micrognathia, Respiratory insuffic... |
OMIM:224410 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal pelvic gi... |
ORPHA:3429 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Mandibular prognathia, Rhizomelia, Metaphyseal widening, Irregular epiphyses, Bronchospasm, Short... |
OMIM:612813 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bo... |
OMIM:100800 |
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 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Epicanthus, Telecanthus, Proximal placement of thumb, Micrognathia, Preaxia... |
OMIM:610536 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... |
ORPHA:2491 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Abnormal limb bone morphology |
ORPHA:2204 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... |
ORPHA:264675 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, W... |
OMIM:615821 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Greenberg Dysplasia |
|
Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossification, Brachydactyly |
ORPHA:1426 |
Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Micrognathia, Wide anterior fontanel, Small hand, Antecubital pt... |
OMIM:619339 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion |
ORPHA:50251 |
Diaphanospondylodysostosis |
|
Respiratory distress, Narrow pelvis bone, Myelomeningocele, Missing ribs |
ORPHA:66637 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia, Metaphyseal widening, C... |
OMIM:255800 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Occipital encephalocele, Toe syndactyly, Micromelia, Micrognathia, Postaxial ha... |
OMIM:241800 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Ectrodactyly, Oligodactyly |
ORPHA:3016 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... |
ORPHA:1302 |
Pachyonychia Congenita 1 |
|
Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Micrognathia, Long eyelashes, Spina bifida occulta, Thick eyebrow |
ORPHA:1514 |
Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Synophrys, Short metatarsal, Short phalanx of finger, Genu varum, Short me... |
OMIM:619636 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Scapular winging, Neonatal respiratory distress, Monkey wrench femoral neck, M... |
OMIM:618870 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Micrognathia... |
OMIM:613848 |
C Syndrome |
|
Short metacarpal, Toe syndactyly, Epicanthus, Micromelia, Micrognathia, Postaxial hand polydactyl... |
OMIM:211750 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal ... |
OMIM:224400 |
Pityriasis Rubra Pilaris |
|
Orthokeratosis, Subungual hyperkeratosis, Parakeratosis, Palmoplantar keratoderma |
OMIM:173200 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... |
ORPHA:1106 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... |
ORPHA:1788 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Hyperkeratosis, Palmoplantar keratoderma, Erythroderma |
ORPHA:312 |
Meige Disease |
|
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... |
ORPHA:90186 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Micromelia, Genu valgum, Umbilical hernia, Downslanted palpebral fiss... |
ORPHA:1035 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Respiratory distress, Palpebral edema, Micromelia, Adducted thumb, Bilateral si... |
ORPHA:50810 |
Thrombocytopenia, Paris-Trousseau Type |
|
Ptosis, Clinodactyly, Radial deviation of finger, Micrognathia |
OMIM:188025 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
Acrodysostosis |
|
Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu... |
ORPHA:950 |
Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... |
OMIM:163400 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Neonatal death, Death in infancy, Short finger, Ectropion |
OMIM:242500 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Alopecia, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Hype... |
ORPHA:79395 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Delayed epip... |
OMIM:613320 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Abnormal epiphysis morphology, Micromelia |
ORPHA:93283 |
Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla,... |
ORPHA:245 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Brachydactyly, Acromesomelia |
ORPHA:40 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Limb-Mammary Syndrome |
|
Syndactyly, Absent lacrimal punctum, Toe syndactyly, Chronic irritative conjunctivitis, Sparse ey... |
ORPHA:69085 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis |
OMIM:148600 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ptosis, Telecanthus, Ulnar deviation of the hand, Progressive forearm bowing, ... |
OMIM:600383 |
Arthrogryposis, Distal, Type 2B1 |
|
Mandibular prognathia, Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger,... |
OMIM:601680 |
Oculomaxillofacial Dysostosis |
|
Brachydactyly, Camptodactyly of finger, Micrognathia, Abnormality of the humerus, Abnormal eyelid... |
ORPHA:1794 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Aplasia/Hypoplasia of the ribs, Neonatal respiratory distres... |
ORPHA:168549 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Rocker bottom foot, Micrognathia, Tibial bowing, Congenital bilateral hip dislocation, Limb under... |
ORPHA:453510 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Micrognathia |
OMIM:615042 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Rocker bottom foot, Respiratory distress, Adducted thumb |
ORPHA:89844 |
Ollier Disease |
|
Multiple enchondromatosis, Abnormal metaphysis morphology, Abnormal cartilage morphology, Micromelia |
ORPHA:296 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hyperkerat... |
OMIM:602400 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Absent inner and outer dynein arms, Immotile cil... |
OMIM:606763 |
Tetrasomy 5P |
|
Respiratory distress, Epicanthus, Overlapping toe, Short hallux, Micrognathia, Long fingers, Wide... |
ORPHA:3309 |
Thyroid Lymphoma |
|
Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Stridor, Hypothyroidism... |
ORPHA:97285 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Hypopl... |
ORPHA:93307 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Epicanthus, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Mi... |
OMIM:617866 |
Kagami-Ogata Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Long fingers, Coxa valga, Blepharophimosis, Patent ductu... |
OMIM:608149 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... |
OMIM:171480 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
Superficial Epidermolytic Ichthyosis |
|
Palmoplantar keratoderma, Edema, Acantholysis |
ORPHA:455 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis |
OMIM:618339 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Short ribs, Hypoplasia of deltoid ... |
OMIM:173800 |
Coxoauricular Syndrome |
|
Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Micromelia |
ORPHA:1508 |
Thanatophoric Dysplasia |
|
Micromelia, Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Respiratory insuffici... |
ORPHA:2655 |
Atelosteogenesis, Type Iii |
|
Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Tombstone-shaped proximal phalanges, Elbow d... |
OMIM:108721 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Bilateral ptosis, Recurre... |
ORPHA:254875 |
Fetal Akinesia Deformation Sequence 3 |
|
Overlapping fingers, Downslanted palpebral fissures, Rocker bottom foot, Micrognathia |
OMIM:618389 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, El... |
ORPHA:2538 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... |
OMIM:609945 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Epicanthus, Abnormal dental enamel morphology, Abnormal epiphysis morp... |
ORPHA:2107 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, N... |
ORPHA:79151 |
Orofaciodigital Syndrome Type 2 |
|
Apnea, Micrognathia, Complete duplication of hallux phalanx, Tachypnea, Finger clinodactyly, Shor... |
ORPHA:2751 |
Lichen Planus Pemphigoides |
|
Pruritus, Hyperkeratosis |
ORPHA:254478 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Vertebral hypoplasia, Coxa vara, ... |
OMIM:602557 |
Ruvalcaba Syndrome |
|
Ptosis, Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Abnormality of ... |
ORPHA:3121 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Mandibular prognathia, Rhizomelia, Abnormal respiratory system physiology, Mesomelia, Broad thumb... |
ORPHA:171866 |
Nasolacrimal Duct Cyst |
|
Chronic irritative conjunctivitis, Intercostal retractions, Abnormal lacrimal sac morphology, Dac... |
ORPHA:141083 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Acrofrontofacionasal Dysostosis |
|
Ptosis, Camptodactyly of finger, Micromelia, Eyelid coloboma, Abnormal epiphysis morphology, Shor... |
ORPHA:1784 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Micrognathia, Split hand, Malar flattening, Brachydactyly |
ORPHA:2145 |
Cole Disease |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma |
OMIM:615522 |
Cousin Syndrome |
|
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... |
OMIM:260660 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Epicanthus, Telecanthus, Spontaneous neonatal pneumothorax, Micrognathia, Wide anterior fontanel,... |
OMIM:225410 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... |
ORPHA:93259 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st... |
OMIM:245590 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Cutaneous fing... |
OMIM:224690 |
Congenital Varicella Syndrome |
|
Micromelia |
ORPHA:291 |
Shox-Related Short Stature |
|
Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lo... |
ORPHA:314795 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneou... |
OMIM:236500 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Rhizomelia, Wide anterior fontanel, Tibial bowing, Femoral b... |
OMIM:616482 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m... |
OMIM:300863 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Abnor... |
ORPHA:2635 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Orthokeratosis, Hyperkeratosis |
OMIM:613943 |
Achondrogenesis Type 2 |
|
Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Cardiorespiratory... |
ORPHA:93296 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, Talipes equinovarus |
OMIM:620011 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Respiratory failure |
ORPHA:1861 |
Choanal Atresia |
|
Respiratory distress, Upper airway obstruction, Polydactyly, Tracheomalacia, Chronic sinusitis, A... |
ORPHA:137914 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Short humerus, Epicanthus, Short femur, Rhizomelia, Sandal gap, Patent duct... |
OMIM:607143 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Blepharophimosis, Hypoplastic ilia... |
ORPHA:93333 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Hand clenching, Respiratory distress |
ORPHA:240103 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Neonatal respiratory dis... |
OMIM:602471 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Medial flaring of the eyebrow, Respiratory distress, Hooded eyelid, Sandal gap, Sparse eyelashes,... |
OMIM:612863 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Hypoplasia of th... |
OMIM:218600 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Clubbing, Bronchiectasis, Wheezing, ... |
ORPHA:79127 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Tukel Syndrome |
|
Syndactyly, Ptosis, Congenital fibrosis of extraocular muscles, Carpal synostosis, Carpal bone ap... |
OMIM:609428 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Respiratory distress, Hypoplastic facial bones, Overtubulated long bones, Shor... |
OMIM:619793 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... |
ORPHA:1860 |
Campomelic Dysplasia |
|
Respiratory distress, Apnea, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossificatio... |
OMIM:114290 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o... |
OMIM:614900 |
Image Syndrome |
|
Metaphyseal dysplasia, Micromelia |
ORPHA:85173 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognathia, Flat ca... |
OMIM:147891 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Synophrys, Small hand, Short foot, Long eyelashes, Short palm, Ptosis |
ORPHA:238750 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Diabetes mellitus, Pneumonia, Cough, Nonproductive cough, Dyspnea, Tachypne... |
ORPHA:36238 |
Chitayat Syndrome |
|
Hallux valgus, Respiratory distress, Tracheomalacia, Brachydactyly |
OMIM:617180 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuse... |
OMIM:119600 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Micrognathia... |
ORPHA:1427 |
Cardioacrofacial Dysplasia 2 |
|
Mandibular prognathia, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydact... |
OMIM:619143 |
Atelosteogenesis Type I |
|
Telecanthus, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral h... |
ORPHA:1190 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... |
OMIM:268305 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Elbow flexion... |
ORPHA:1145 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Epicanthus, Broad hallux, Overlapping toe, Proximal placement of thumb, Ta... |
ORPHA:435638 |
Cornelia De Lange Syndrome |
|
Micromelia, Proximal placement of thumb, Micrognathia, Synophrys, Clinodactyly of the 5th finger,... |
ORPHA:199 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Arachnodactyly, Apnea, Micrognathia, Shallow orbits, Downslanted palpebral fissures |
ORPHA:1129 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Epicanthus |
OMIM:614741 |
Glutamine Deficiency, Congenital |
|
Neonatal respiratory distress, Apnea, Micromelia, Camptodactyly, Neonatal death |
OMIM:610015 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Aplasia/Hypoplasia of the eyebrow, Micrognathia |
ORPHA:261304 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Erythroderma |
OMIM:604777 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Epicanthus, Micromelia, Postaxial pol... |
OMIM:614091 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Hyperkeratosis |
OMIM:620014 |
Synaptic Congenital Myasthenic Syndromes |
|
Mandibular prognathia, Respiratory distress, Scapular winging, Hypoventilation, Neonatal respirat... |
ORPHA:98915 |
Achondrogenesis Type 1B |
|
Micromelia, Micrognathia, Short foot, Talipes equinovarus, Umbilical hernia |
ORPHA:93298 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy, Respiratory distress |
OMIM:160900 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Epicanthus, Encephaloc... |
ORPHA:1908 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Epicanthus, Postaxial hand polydactyly, Patent ductus arteriosus, Short rib... |
ORPHA:2519 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Telecanthus, Short femur, Fractured radius, Decreased fibular diameter, Micrognathia, Flared meta... |
OMIM:616897 |
Achondrogenesis Type 1A |
|
Micromelia, Micrognathia, Short foot, Short palm, Umbilical hernia |
ORPHA:93299 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Anaplastic thyroid carcinoma, C... |
ORPHA:142 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t... |
ORPHA:246 |
Lichen Planopilaris |
|
Pruritus, Hyperkeratosis, Alopecia |
ORPHA:525 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Radioul... |
OMIM:212780 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis |
OMIM:612281 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Hypoplasia of the maxilla, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod... |
OMIM:609638 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head |
OMIM:605274 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Decreased response to growth hormone stimula... |
OMIM:610978 |
Familial Benign Chronic Pemphigus |
|
Hyperkeratosis, Acantholysis |
ORPHA:2841 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, External genital hypoplasia, Proximal placement of thumb, Absent t... |
OMIM:613390 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Orthokeratosis, Hyperkeratosis, Erythroderma |
OMIM:615023 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Maternal diabetes, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, As... |
ORPHA:70588 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... |
ORPHA:254864 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Ptosis |
OMIM:613561 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Dyspnea, Clubbing, Restrictive ventilatory defect, ... |
OMIM:619611 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Respiratory in... |
ORPHA:2021 |
Diaphanospondylodysostosis |
|
Respiratory distress, Epicanthus, Missing ribs, Micrognathia, Respiratory insufficiency, Narrow p... |
OMIM:608022 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, Abnormal ... |
ORPHA:2879 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Metaphyseal widening, Delayed epiphyseal ossification, Flared metaphysis, Upp... |
ORPHA:93352 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Micrognathia, Mesomelia, Long eyelashes, Camptodactyly, Prominent finge... |
OMIM:618529 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Limited elbow movement, Hypoplasia of the odontoid process, Hip dislocation... |
OMIM:183900 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Epicanthus, Telecanthus, Overlapping toe, Upslanted palpebral fissure, Over... |
OMIM:619383 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Telecanthus, Micromelia, Abnormal shoulder morphology, Abnorm... |
ORPHA:1422 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Epicanthus, Telecanthus, Metaphyseal widening, Synophrys, Clubbing, Recurre... |
OMIM:617303 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress |
ORPHA:91130 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Death in infancy, Highly arched eyebrow, Micrognathia, Wide anterior font... |
OMIM:619135 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Epicanthus, Micrognathia, Sparse eyebrow, Downslanted palpebral fissures |
OMIM:606164 |
Pallister-Hall Syndrome |
|
Microretrognathia, Mesoaxial polydactyly, Radial bowing, Patent ductus arteriosus, Respiratory in... |
ORPHA:672 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress |
ORPHA:26792 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Hypospadias, Respiratory failure, Death in childhood, Neonatal death, Adducted ... |
OMIM:619334 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Absent lower eyelashes, Hy... |
OMIM:154400 |
Achondrogenesis |
|
Umbilical hernia, Micromelia, Micrognathia |
ORPHA:932 |
3M Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, ... |
ORPHA:2616 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu... |
ORPHA:2414 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Follic... |
OMIM:616295 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus, Respiratory insufficiency |
OMIM:601612 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Hypoplasia of the maxilla, Tetraphocomelia, Hypoplastic vertebral bodie... |
OMIM:215140 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Myopathy And Diabetes Mellitus |
|
Hyporeflexia of upper limbs, Shoulder girdle muscle weakness, Respiratory distress |
ORPHA:2596 |
Auriculocondylar Syndrome |
|
Respiratory distress, Abnormality of the temporomandibular joint, Micrognathia, Dental malocclusi... |
ORPHA:137888 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Micromelia, Patent ductus arteriosus, Respiratory insufficiency, Abnormal metaphys... |
ORPHA:93274 |
Orofaciodigital Syndrome Iv |
|
Epicanthus, Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydacty... |
OMIM:258860 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Epicanthus, Hypoplastic scapulae, Bowing of the legs, Short toe, Patent ductus arter... |
OMIM:269860 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot |
OMIM:271225 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas |
ORPHA:79452 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Obtuse angle of mandible, Coxa valga, Short tubular bones of the hand, Micrognathia, Wide anterio... |
ORPHA:85184 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Tapered finger, Hip dysplasia, Finger joint hypermobility, Metacarpophalang... |
ORPHA:544503 |
Acrofacial Dysostosis, Cincinnati Type |
|
Ablepharon, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Upper eyelid colob... |
OMIM:616462 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Epicanthus, Sandal gap, Broad hallux, Micromelia, Single transverse palmar crease, Hy... |
OMIM:614800 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea, Maternal diabetes |
ORPHA:45452 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Mednik Syndrome |
|
Hyperkeratosis |
ORPHA:171851 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Radi... |
OMIM:268310 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... |
ORPHA:93260 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia, Micrognathia, Mandibular aplasia, Downslanted palpebral fis... |
OMIM:202650 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Clubbing, Respiratory... |
OMIM:265120 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Highly arched eyebrow, Sparse eyebrow, Upslanted palpebral fissure, Talipes eq... |
OMIM:619124 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Respiratory insufficiency, Tibial bowing, Abnormal pelvic ... |
OMIM:166210 |
Pycnodysostosis |
|
Obtuse angle of mandible, Rhizomelia, Delayed eruption of primary teeth, Micrognathia, Hypoplasti... |
ORPHA:763 |
Acromesomelic Dysplasia 1 |
|
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met... |
OMIM:602875 |
Primary Pulmonary Hypoplasia |
|
Epicanthus, Neonatal respiratory distress, Apnea, Micrognathia, Asthma, Tachypnea, Pneumothorax, ... |
ORPHA:2257 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction, Micrognathia |
OMIM:612776 |
Mohr Syndrome |
|
Syndactyly, Telecanthus, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Post... |
OMIM:252100 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Pneumonia, Limited elbow movement, Limited wrist movement, Dyspnea, Short f... |
OMIM:617809 |
Hypophosphatasia, Infantile |
|
Death in infancy, Apnea, Micromelia, Bowing of the legs, Stillbirth, Short ribs, Metaphyseal cupp... |
OMIM:241500 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Respiratory distress, Respiratory failure requiring assisted ventilation, Dy... |
OMIM:211530 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Micrognathia, Partial duplication of thumb phalanx, Dental malocclusion, Partial d... |
OMIM:616331 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Epicanthus, Postaxial polydactyly, Postaxial hand polydactyly, Supernumerar... |
OMIM:617088 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Episodic Ataxia Type 1 |
|
Hand clenching, Respiratory distress |
ORPHA:37612 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Micrognathia, Abnormal fibula morphology, Tibial bowing,... |
ORPHA:3035 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Arachnodactyly, Rocker bottom foot, Long palm, Coxa valga, Avascular necros... |
ORPHA:3342 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Metaphyseal dysplasia, Radial bowing, Broad hallux, Rhizomelia, Bowed humerus, Limited elbow exte... |
OMIM:618019 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Delayed epiphyseal ossification, Abnormal epiphysis morphology, Umbilical h... |
ORPHA:226313 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn... |
OMIM:271665 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Myocardial necrosis, Neonatal respiratory distress, Metaphyseal sclerosis, ... |
OMIM:260400 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Thick eyebrow, Telecanthus, Symblepharon, Small hand, Retrognathia, Short foot, Spina bifida occu... |
ORPHA:488434 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Ulnar deviation of the wrist, Allergic rhinitis, Asthma, Patent ductus arteriosus, 2-... |
OMIM:618162 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Metaphyseal widening, Osteopathia striata, Delay... |
ORPHA:93357 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Testicular atrophy |
OMIM:601163 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia |
ORPHA:79107 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia |
ORPHA:596 |
Irida Syndrome |
|
Hyperkeratosis |
ORPHA:209981 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Patent ductus arteriosus, Coxa vara, Narrow pelvis bone, Narrow palpebral fissure, Ab... |
ORPHA:2637 |
Dpm1-Cdg |
|
Sandal gap, Micrognathia, Camptodactyly, Limb undergrowth, Downslanted palpebral fissures, Long h... |
ORPHA:79322 |
Becker Nevus Syndrome |
|
Upper limb asymmetry, Abnormal tibia morphology, Spina bifida occulta, Micromelia |
ORPHA:64755 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Telecanthus, Aplastic clavic... |
ORPHA:50945 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough |
ORPHA:86812 |
Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Micrognathia, Patent ductus arteriosus, Deviation of the 2nd finge... |
ORPHA:1305 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Pleural effusion, Testi... |
OMIM:235200 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Abnormal pelvis bone morphology, Abnormal nasolacrimal system morphology, Camptod... |
ORPHA:2273 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Abnormal size of the palpebral fissures, Highly arched eyebrow, Patent ductus arteriosus, Recurre... |
ORPHA:500159 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Postaxial polydactyly, Tapered finger, Patent ductus arteriosus, Small hand... |
OMIM:300968 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hip contracture, Scapular winging, Tapered toe, Shoulder flexion contractur... |
OMIM:620369 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Epicanthus, Metatarsus adductus, Short toe, 4-5 toe synd... |
ORPHA:3041 |
Tularemia |
|
Respiratory distress, Pneumonia, Pleural effusion, Conjunctivitis, Cough, Conjunctival hyperemia |
ORPHA:3392 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Micrognathia, Metaphyseal widening, Arachnodactyly, Repeated pneumothoraces... |
ORPHA:536467 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Overlapping toe, Micrognathia, Carious teeth, Almond-shaped palpebral fissu... |
ORPHA:177907 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperke... |
OMIM:615726 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Limb undergrowth, Neonatal respiratory distress, Recurrent aspiration pneumonia, Single transvers... |
ORPHA:79243 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... |
OMIM:200600 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Micrognathia, Calcaneovalgus deformity, Neonatal death, Pterygium, Finger syndactyly,... |
OMIM:256520 |
Nipah Virus Disease |
|
Respiratory distress, Cough |
ORPHA:99825 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Adnp Syndrome |
|
Respiratory distress, Broad hallux, Sandal gap, Single transverse palmar crease, Abnormal toe mor... |
ORPHA:404448 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Epicanthus, Dyspnea, Patent ductus arteriosus, Lower eyelid edema, Large ha... |
ORPHA:363705 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, ... |
ORPHA:96334 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal wid... |
OMIM:271510 |
Hypoglossia-Hypodactylia |
|
Epicanthus, Micrognathia, Adactyly, Split hand, Retrognathia |
OMIM:103300 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea, Long eyelashes, Overlapping fingers, Retrognathia, ... |
ORPHA:79330 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Telecanthus, Death in infancy, Micrognathia, Adactyly, Split ha... |
ORPHA:989 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Rhiz... |
OMIM:180700 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Palpebral edema, Upper airway obstruction |
ORPHA:100057 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Hypoplasia of the maxill... |
ORPHA:1798 |
Oromandibular Dystonia |
|
Blepharospasm, Abnormality of the temporomandibular joint, Abnormal mandible morphology, Respirat... |
ORPHA:93958 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Bowing of the long bones, Apnea, Camptodactyly of finger, Micromelia, Trism... |
ORPHA:3206 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, H... |
OMIM:180849 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Hypoxemia |
ORPHA:2140 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Micromelia, Upslanted palpebral fissure, Short phalanx of finger, Brachydactyly |
OMIM:600092 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Foot oligodactyly, Amelia, Anterior encephalocele |
OMIM:601357 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Short femur, Metaphyseal spurs, Patent ductus arteriosus, Femoral bowing, S... |
OMIM:618188 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Congenital bilateral ptosis, Camptodactyly, Malar flattening, ... |
OMIM:608257 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Mandibular prognathia, Epicanthus, Synophrys, Asthma, 2-3 toe syndac... |
ORPHA:488632 |
Schwartz-Jampel Syndrome |
|
Apnea, Micromelia, Micrognathia, Coxa vara, Wrist flexion contracture, Death in infancy, Supernum... |
ORPHA:800 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius |
ORPHA:1765 |
Autosomal Recessive Robinow Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, Synosto... |
ORPHA:1507 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Micrognathia, Elbow dislocation... |
ORPHA:2554 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Proximal placement of thumb, Micromelia, Micrognathia, Synophrys... |
OMIM:122470 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Epicanthus, Aplasia/Hypoplasia of the ... |
ORPHA:1225 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Epicanthus, Telecanthus, Micrognathia, Patent ductus arteriosus, Dental malocclusion,... |
OMIM:616894 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Branchial cyst, Congenital hip dislocation, Single transverse palmar crease... |
ORPHA:508488 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short metacarpal, Limited elbow movement, Micrognathia, Preaxial hand polydactyly, Enlarged metap... |
ORPHA:508533 |
Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Telecanthus, Wide anterior fontanel, Neonatal death, Hepatic periportal nec... |
OMIM:231680 |
Isolated Atp Synthase Deficiency |
|
Hypogonadism, Hypothyroidism, Respiratory distress |
ORPHA:254913 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Microretrognathia, Bowing of the long bones, Rhizomelia, Short long bone, Meso... |
OMIM:616229 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Rhizomelia, Micrognathia, Brachioradialis areflexia, Trismus, Recurrent pne... |
OMIM:616271 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Respiratory distress, Conjunctivitis, Sparse medial eyebrow, Recurrent asp... |
OMIM:616268 |
Congenital Myasthenic Syndrome |
|
Microretrognathia, Congenital hip dislocation, Sudden episodic apnea, Intermittent episodes of re... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Microretrognathia, Congenital hip dislocation, Sudden episodic apnea, Intermittent episodes of re... |
ORPHA:98914 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration |
OMIM:604377 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, Clinodactyly of ... |
ORPHA:319675 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Telecanthus, Epicanthus, Upslanted palpebral fissure, Long palpebral fissur... |
ORPHA:438216 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly ... |
ORPHA:2636 |
Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia |
OMIM:112310 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Rhizomelia, Sparse eyebrow, ... |
ORPHA:175 |
Hydrolethalus |
|
Micromelia, Micrognathia, Postaxial hand polydactyly, Anencephaly, Retrognathia |
ORPHA:2189 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Bowing of the long bones, Death in infancy, Micromelia, Micro... |
OMIM:259775 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia |
ORPHA:238459 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida, Micromelia |
ORPHA:63862 |
Aarskog-Scott Syndrome |
|
Short palm, Hyperextensibility of the finger joints, Syndactyly, Elevated circulating luteinizing... |
OMIM:305400 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Micromelia |
ORPHA:2772 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Short femur, Pneumothorax, Talipes equinovarus, Short tibia |
OMIM:620306 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
Kinsship Syndrome |
|
Mandibular prognathia, Death in infancy, Single transverse palmar crease, Coxa valga, Micrognathi... |
OMIM:619297 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress |
OMIM:616733 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... |
ORPHA:87 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Mandibular aplasia, Respiratory distress, Aplasia/Hypoplasia of the eyebrow |
ORPHA:990 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Preax... |
OMIM:210710 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Epicanthus, Talipes equinovarus, Aspiration, Wrist flexion contracture |
OMIM:618733 |
Farber Disease |
|
Respiratory distress, Abnormality of the hand, Short toe, Abnormality of the elbow, Respiratory i... |
ORPHA:333 |
Autosomal Dominant Robinow Syndrome |
|
Micromelia, Micrognathia, Coxa vara, Short palm, Clinodactyly of the 5th finger, Finger syndactyl... |
ORPHA:3107 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Hypoxemia |
ORPHA:464453 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Natal tooth, Overlapping toe, Downslanted palpebral fissures, Palmoplantar ... |
OMIM:123790 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Camptodactyly of finger, Patent ductus arteriosus, Abnormal diaphysis morp... |
ORPHA:354 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Abnormal sweat gland morphology |
ORPHA:247257 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Palmoplantar cutis gyrata, Palmoplantar keratoderma, Hypoplasia of the zygo... |
ORPHA:1555 |
Atelosteogenesis Type Iii |
|
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ... |
ORPHA:56305 |
Campomelia, Cumming Type |
|
Death in infancy, Bowing of the long bones, Micromelia, Clubbing of toes, Brachydactyly |
ORPHA:1318 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... |
ORPHA:95430 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Type I diabetes mellitus, Respiratory failure, Respiratory distress |
OMIM:620166 |
Cranioectodermal Dysplasia 2 |
|
Unilateral ptosis, Syndactyly, Epicanthus, Telecanthus, Rhizomelia, Sparse eyelashes, Micrognathi... |
OMIM:613610 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor, Mitochondrial swelling |
OMIM:615595 |
Omodysplasia 1 |
|
Short humerus, Epicanthus, Rhizomelia, Increased fibular diameter, Malar flattening, Micrognathia... |
OMIM:258315 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Mandibular prognathia, Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, ... |
OMIM:620278 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis, Hyp... |
ORPHA:3404 |
Gm1-Gangliosidosis, Type Ii |
|
Limb undergrowth, Patent ductus arteriosus, Hypoplastic vertebral bodies, Coxa valga |
OMIM:230600 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Ptosis, Respiratory insufficiency due to muscle weakness, Respiratory failu... |
OMIM:220110 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Dental malocclusion, Micrognathia |
ORPHA:329178 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bowing of the long bones, Sand... |
ORPHA:3103 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Keratoconjunctivitis |
ORPHA:79242 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, Hypospadias |
OMIM:619272 |
Mosaic Trisomy 9 |
|
Rocker bottom foot, Camptodactyly of finger, Micromelia, Elbow dislocation, Micrognathia, Patent ... |
ORPHA:99776 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Limb undergrowth, Patent ductus arteriosus, Retrognathia, Hip dislocation |
OMIM:618005 |
Tetanus |
|
Respiratory distress, Trismus, Tachypnea |
ORPHA:3299 |
Pachyonychia Congenita |
|
Respiratory distress, Natal tooth, Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Palmar h... |
ORPHA:2309 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Tibial bowing, Femoral bowing, Short ... |
OMIM:304120 |
Mgat2-Cdg |
|
Respiratory distress, Patent ductus arteriosus, Long eyelashes, Downslanted palpebral fissures, B... |
ORPHA:79329 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress |
ORPHA:79312 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Pneumonia, Bowing of the legs, Hypoplastic ilia... |
ORPHA:1855 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Micrognathia, Neonatal death, Retrognathia |
OMIM:608013 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Carious teeth, Dacryocystitis, Patent ductus arteriosus, Nasolacrimal duct ... |
ORPHA:1051 |
Desmosterolosis |
|
Epicanthus, Micromelia, Micrognathia, Metatarsus adductus, Patent ductus arteriosus, Retrognathia... |
ORPHA:35107 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Telecanthus, Irregular iliac crest, R... |
ORPHA:99646 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Short humerus, Short femur, Apnea, Patent ductus arteriosus, Polydactyly, P... |
ORPHA:17 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira... |
OMIM:615512 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Respiratory distress, Hypospadias, ... |
ORPHA:209905 |
Neu-Laxova Syndrome |
|
Abnormal nasolacrimal system morphology, Micromelia, Micrognathia, Abnormal eyelid morphology, Tr... |
ORPHA:2671 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
ORPHA:927 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Respiratory failure requiring assisted ventilati... |
ORPHA:1675 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress |
OMIM:212140 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Overlapping toe, Palpebral edema, Recurrent pneumonia, Broad palm, Long ey... |
ORPHA:99843 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Restrictive Dermopathy 1 |
|
Micrognathia, Overtubulated long bones, Neonatal death, Absent eyelashes, Wide anterior fontanel,... |
OMIM:275210 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Almond-shaped palpebral fissure, Short proximal phalanx... |
ORPHA:261323 |
Doors Syndrome |
|
11 pairs of ribs, Respiratory distress, Epicanthus, Aplasia/Hypoplasia of the phalanges of the 2n... |
ORPHA:79500 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Malar flattening, Patent ductus arteriosus, Micrognathia |
OMIM:613309 |
Japanese Encephalitis |
|
Respiratory distress, Elbow flexion contracture, Distal upper limb muscle weakness, Respiratory p... |
ORPHA:79139 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Advanced eruption of teeth, Finger syndactyly, Rhizome... |
ORPHA:818 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Respiratory distress, Overlapping toe, Micrognathia, Wide anterior fon... |
ORPHA:798 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Eyelid coloboma, Shallow orbits, Phocomelia, Wrist flexion contrac... |
OMIM:268300 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Limited mobility of proximal interphalangeal joint, Hypoth... |
OMIM:222300 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic hypogonadism, ... |
ORPHA:465508 |
Bone Marrow Failure Syndrome 5 |
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Hypogonadism, Testicular atrophy |
OMIM:618165 |
Chromosome 14Q11-Q22 Deletion Syndrome |
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Epicanthus, Micrognathia, Patent ductus arteriosus, Mesomelia, Blepharophimosis, Hip subluxation,... |
OMIM:613457 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Epicanthus, Overlapping toe, Arachnodactyly, Single transverse palmar creas... |
ORPHA:83617 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Respiratory distress, Epicanthus, Telecanthus, Patent ductus arteriosus, Stridor, Deep palmar cre... |
ORPHA:505248 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Palpebral edema, Micromelia, Short iliac bones, Abnormal iliac wing mo... |
ORPHA:3003 |
Primary Dystonia, Dyt4 Type |
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Blepharospasm, Respiratory distress |
ORPHA:98805 |
Ellis Van Creveld Syndrome |
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Delayed eruption of teeth, Micromelia, Capitate-hamate fusion, Genu valgum, Conical incisor, Abno... |
ORPHA:289 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Epicanthus, Single transverse palmar crease, Synophrys, Asthma, Nasal flaring, Short palm, Long p... |
ORPHA:466943 |
Osteogenesis Imperfecta, Type Vii |
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Death in infancy, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Mic... |
OMIM:610682 |
Isolated Arrhinia |
|
Respiratory distress, Hypoplasia of the nasal bone, Absent nasal septal cartilage, Eyelid coloboma |
ORPHA:1134 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
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Testicular atrophy |
OMIM:613987 |
Focal Dermal Hypoplasia |
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Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifid... |
OMIM:305600 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hallux valgus, Respiratory distress, Telecanthus, Congenital hip dislocation, Overlapping toe, Po... |
ORPHA:480880 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
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Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... |
OMIM:618426 |
Slc39A8-Cdg |
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Limb undergrowth, Cutaneous syndactyly of toes, Sudden episodic apnea, Elbow flexion contracture |
ORPHA:468699 |
Congenital Fibrosis Of Extraocular Muscles |
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Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atrophy, Hand oligodacty... |
ORPHA:45358 |
Acrocephalopolydactylous Dysplasia |
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Upslanted palpebral fissure, Epicanthus, Postaxial hand polydactyly, Micromelia |
OMIM:200995 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Bilateral ptosis, Respiratory i... |
OMIM:164310 |
Esophageal Atresia |
|
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... |
ORPHA:1199 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:367 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Abnormal fingertip morphology, Dyspnea, Pneumothorax, Renal tubu... |
ORPHA:79404 |
Infantile Systemic Hyalinosis |
|
Brachydactyly, Camptodactyly of finger, Micromelia, Short palm |
ORPHA:2176 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea |
ORPHA:26793 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion, Prostatitis |
ORPHA:1546 |
Robinow Syndrome |
|
Syndactyly, Brachydactyly, Bifid distal phalanx of the thumb, Micrognathia, Missing ribs, Persist... |
ORPHA:97360 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Myelopathy, Conjunctivitis, Hyperventilation |
ORPHA:79241 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress |
OMIM:251000 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Single transverse palmar crease, Small hand, Intrinsic hand muscle atrophy,... |
OMIM:615273 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Limb undergrowth, Clinodactyly |
OMIM:616541 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Absent eyebrow, Sparse eyelashes, Hypoplasia of the maxilla, Absent eyelash... |
OMIM:305100 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure, Shoulder girdle muscle weakness |
ORPHA:206436 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Absent gallbladder, Patent ductus arteriosus, Pulmonary arterial hypertensi... |
ORPHA:210122 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Anencephaly, Short ri... |
OMIM:616546 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur ... |
ORPHA:666 |
Coccidioidomycosis |
|
Respiratory distress, Abnormal sperm morphology, Pneumonia, Abnormality of the endocrine system, ... |
ORPHA:228123 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Abnormal nasolacrimal system morphology, Abnormal dental enamel morphology,... |
ORPHA:2556 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Swelling of proximal interphalangeal joints, Pulmonary embolism, Dyspnea, A... |
ORPHA:3260 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Pneumonia, Tachypnea, Abnormality of the upper limb |
ORPHA:36234 |
Smith-Lemli-Opitz Syndrome |
|
Microretrognathia, Death in infancy, Epicanthus, Overlapping toe, Micromelia, Proximal placement ... |
OMIM:270400 |
C Syndrome |
|
Death in infancy, Epicanthus, Toe syndactyly, Bilateral single transverse palmar creases, Microme... |
ORPHA:1308 |
Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion |
ORPHA:292 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax |
OMIM:617300 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Dacryocystitis, Nonproductive cough, Dyspnea, ... |
ORPHA:31204 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Autoamputation of digits, Hepatocellular necrosis |
OMIM:256810 |
Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... |
ORPHA:1329 |
Aprosencephaly Syndrome |
|
Anencephaly, Hand oligodactyly |
OMIM:207770 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Inspiratory stridor |
ORPHA:100050 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea |
OMIM:115197 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Entropion, Restrictive ventilatory defect, Conjunctivitis, Cough |
ORPHA:537 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Absence of the sacrum, Congenital hip dislocation, Patent ductus arteriosus... |
OMIM:306955 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Ptosis, Orthopnea, Respiratory insufficiency due to muscle weakness, Respir... |
ORPHA:365 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Nonproductive cough, Rhinitis, Crackles |
ORPHA:319213 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Aspiration, Apnea, Thin eyebrow |
ORPHA:2131 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Epicanthus, Micromelia, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Abno... |
ORPHA:93271 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Hyperthyroidism, Pneumonia, Abnormality of the endocrine system, Thyroiditi... |
ORPHA:37042 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress |
OMIM:612852 |
Sepsis In Premature Infants |
|
Abnormal respiratory system physiology, Dyspnea, Nasal flaring, Abnormal mucociliary clearance |
ORPHA:90051 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
Cocaine Intoxication |
|
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation |
ORPHA:90068 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Patent ductus arteriosus, Upper airwa... |
ORPHA:141127 |
Scimitar Syndrome |
|
Respiratory distress, Patent ductus arteriosus, Pneumothorax, Cough, Pulmonary arterial hypertension |
ORPHA:185 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Hypospadias, Arachnodactyly, Cryptorchidism, Slender toe, Abnormality of the Leydig cel... |
ORPHA:3063 |
Peters Plus Syndrome |
|
Toe syndactyly, Rhizomelia, Micromelia, Micrognathia, Short toe, Patent ductus arteriosus, Short ... |
ORPHA:709 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Hyp... |
ORPHA:273 |
Q Fever |
|
Respiratory distress, Pleural effusion, Pneumonia, Cough |
ORPHA:781 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Symblepharon, Trichiasi... |
ORPHA:95455 |
Ethylene Glycol Poisoning |
|
Tachypnea, Episodic respiratory distress, Renal tubular epithelial necrosis, Abnormal pattern of ... |
ORPHA:31826 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
Eisenmenger Syndrome |
|
Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Patent ductus arteriosus... |
ORPHA:97214 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress |
OMIM:274150 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion |
ORPHA:340 |
Listeriosis |
|
Respiratory distress, Miscarriage, Pneumonia, Respiratory failure, Conjunctivitis |
ORPHA:533 |
Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy |
OMIM:617156 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary arterial hypertension, Pulmonary embolism |
ORPHA:79282 |
Charge Syndrome |
|
Hypoplasia of the ulna, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Micrognathia, Ab... |
OMIM:214800 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Pleural effusion, Apnea |
OMIM:261740 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation |
ORPHA:255210 |
Aortic Arch Interruption |
|
Respiratory distress, Patent ductus arteriosus, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Respiratory distress, Maternal diabetes, Diabetic ketoacidosis, Type I ... |
ORPHA:358 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea |
ORPHA:2330 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Res... |
ORPHA:805 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Neonatal insulin-dependent diabetes mellitus, Patent ductus arteriosus, Con... |
ORPHA:2255 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Sparse eyelashes, Sparse eyebrow, Respirator... |
OMIM:614748 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Calcification of the auricular cartilage, Stippled calcification of the sho... |
ORPHA:51608 |
Plague |
|
Respiratory distress, Conjunctival hyperemia, Abnormality of the elbow, Acute infectious pneumonia |
ORPHA:707 |
Alström Syndrome |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Elevated circulating... |
ORPHA:64 |
Leptospirosis |
|
Respiratory distress, Pleural effusion, Conjunctival hyperemia, Cough |
ORPHA:509 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Patent ductus arteriosu... |
ORPHA:99125 |
Pmm2-Cdg |
|
Mandibular prognathia, Respiratory distress, Epicanthus, Long fingers, Upslanted palpebral fissur... |
ORPHA:79318 |