Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Aplasia/Hypoplasi... |
ORPHA:141152 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Polydactyly, Preaxial Ii |
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Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Perching Syndrome |
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Respiratory distress, Cyanosis, High palate, Dysphagia, Camptodactyly |
OMIM:617055 |
Polydactyly, Postaxial, Type A1 |
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Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Pierre Robin Sequence With Facial And Digital Anomalies |
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Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate... |
OMIM:311895 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
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Syndactyly, Cleft palate, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morph... |
ORPHA:294975 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias... |
OMIM:617927 |
Polydactyly, Preaxial Iv |
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Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Triphalangeal Thumb With Polysyndactyly |
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Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Lethal Recessive Chondrodysplasia |
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Respiratory distress, Micromelia, Micrognathia, Polyhydramnios, Edema, Macroglossia, Short long b... |
ORPHA:1423 |
Pierre Robin Syndrome And Oligodactyly |
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Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia |
OMIM:172880 |
Orofaciodigital Syndrome Type 10 |
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Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ... |
ORPHA:2756 |
Neuralgic Amyotrophy |
|
Scapular winging, Respiratory insufficiency, Cleft palate, Narrow mouth, Acrocyanosis |
ORPHA:2901 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Jawad Syndrome |
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Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, Aggressive b... |
OMIM:251255 |
Bullous Dystrophy, Hereditary Macular Type |
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Death in childhood, Acrocyanosis, Short finger, Tapered finger |
OMIM:302000 |
Hallux Varus And Preaxial Polysyndactyly |
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Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Polydactyly, Preaxial I |
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Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
Lethal Osteosclerotic Bone Dysplasia |
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Respiratory distress, Micrognathia, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respirat... |
ORPHA:1832 |
Stuve-Wiedemann Syndrome 2 |
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Respiratory distress, Bowing of the long bones, Congestive heart failure, Dysphagia, Death in ado... |
OMIM:619751 |
Split-Hand/Foot Malformation 3 |
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Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Split hand, Cleft palate, High palate... |
OMIM:246560 |
Auriculocondylar Syndrome 2A |
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Respiratory distress, Apnea, Dental crowding, Micrognathia, Narrow mouth, Dental malocclusion, Te... |
OMIM:614669 |
Arthrogryposis, Distal, Type 1C |
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Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... |
OMIM:619110 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
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Metaphyseal dysplasia, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Flared ... |
OMIM:156510 |
Mesomelic Limb Shortening And Bowing |
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Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... |
OMIM:249710 |
Temtamy Preaxial Brachydactyly Syndrome |
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Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Jackson-Weiss Syndrome |
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Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... |
ORPHA:1540 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
Congenital Myopathy 10A, Severe Variant |
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Respiratory distress, Camptodactyly of finger, Cleft palate, Respiratory insufficiency, Restricti... |
OMIM:614399 |
Mohr Syndrome |
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Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
Acropectoral Syndrome |
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Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Robin Sequence-Oligodactyly Syndrome |
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Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft... |
ORPHA:3104 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
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Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Aggressive behavior, High pal... |
ORPHA:85279 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Congenital Radioulnar Synostosis |
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Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hallux valgus, Hyperactivity, Cone-shaped epiphyses of the 3rd toe, Hypopl... |
ORPHA:397973 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, High palate, Bilatera... |
OMIM:618142 |
Multiple Epiphyseal Dysplasia, Lowry Type |
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Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... |
ORPHA:166016 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Death in infancy, Villous atrophy, Abnormal intestine morphology, Dehydration |
OMIM:251850 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Respiratory distress, Bowing of the long bones, Death in infancy, Micr... |
ORPHA:166272 |
Syndactyly-Polydactyly-Earlobe Syndrome |
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Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici... |
ORPHA:99772 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot, Malar flattening |
OMIM:183700 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:3201 |
Distal Xq28 Microduplication Syndrome |
|
Predominantly lower limb lymphedema, Epistaxis, Short lingual frenulum, Dental crowding, Hypoplas... |
ORPHA:293939 |
Atelosteogenesis, Type Iii |
|
Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation... |
OMIM:108721 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Rocker bottom foot, Micrognathia, Carious teeth, Coxa valga, Recurrent... |
OMIM:214150 |
Harlequin Ichthyosis |
|
Sudden cardiac death, Respiratory insufficiency, Dehydration, Self-injurious behavior, Hand polyd... |
ORPHA:457 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Polyhydramnios, Micrognathia, Respiratory insufficiency due to muscle weakn... |
OMIM:300580 |
Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Moebius Syndrome |
|
Respiratory distress, Syndactyly, Brachydactyly, Micrognathia, Abnormality of the dentition, Spli... |
OMIM:157900 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... |
ORPHA:2919 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Swollen lip, Facial edema,... |
ORPHA:100057 |
High Altitude Pulmonary Edema |
|
Orthopnea, Tachycardia, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmo... |
ORPHA:330012 |
Chronic Hiccup |
|
Dehydration, Abnormal eating behavior |
ORPHA:396 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Tricuspid regurgitation, Cyanosis, Congestive heart failure, Chronic pulmon... |
ORPHA:2414 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ... |
ORPHA:2972 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br... |
ORPHA:1278 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Short palm, Toe syndactyly, Dehydration, Dysphagia, Cone-shaped epiphyses of the distal phalanges... |
OMIM:618958 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Micrognathia, Wide mouth, Widely spaced teeth, Clinodactyly |
OMIM:300934 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... |
ORPHA:2521 |
Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Edema, Right ventricular failure, Reduced forced vital capacity... |
ORPHA:2302 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ... |
ORPHA:1248 |
Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Preaxial hand polydactyly, A... |
ORPHA:3098 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition |
OMIM:216300 |
Choanal Atresia |
|
Respiratory distress, Cyanosis, Upper airway obstruction, Polydactyly, Choking episodes, Tracheom... |
ORPHA:137914 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Apnea, Episodic tachypnea, Hamartoma of tongue, Micrognathia, ... |
ORPHA:2754 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Diffuse palmoplantar hyperkeratosis, Acrocyanosis |
ORPHA:86918 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Single transverse palmar crease, Camptodactyly of f... |
ORPHA:915 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Dental crowding, Micrognathia, Hypoplasia of the maxilla... |
ORPHA:776 |
Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal sinu... |
OMIM:136760 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious... |
OMIM:617102 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o... |
ORPHA:2669 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Keipert Syndrome |
|
Broad hallux phalanx, Tented upper lip vermilion, Exaggerated cupid's bow, Short hallux, Aplasia/... |
ORPHA:2662 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Respiratory distress, Short metacarpal, Brachydactyly, Death in infanc... |
OMIM:184260 |
Fetal Akinesia Deformation Sequence 4 |
|
Rocker bottom foot, Polyhydramnios, Micrognathia, High palate, Prenatal death, Camptodactyly, Neo... |
OMIM:618393 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level, Dehydration |
OMIM:223000 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Micrognathia, Asthma, Tachypnea, Pneumothorax, Pa... |
ORPHA:2257 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, C... |
ORPHA:93316 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... |
ORPHA:1307 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Microretrognat... |
OMIM:616300 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Respiratory distress, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Ove... |
OMIM:619793 |
Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Malar flattening, Clinodactyly |
OMIM:615984 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, ... |
ORPHA:245 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Micrognathia, Hypoplasia of the maxilla, Wrist swelling, Hypertensio... |
OMIM:166300 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Abnormality of the dentition, Short distal phalanx of finger |
ORPHA:2776 |
Orofaciodigital Syndrome Type 2 |
|
Apnea, Micrognathia, Tachypnea, Finger clinodactyly, High palate, Short tibia, Finger syndactyly,... |
ORPHA:2751 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Rocker bottom foot, Micrognathia, Respiratory insufficienc... |
ORPHA:1143 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Anorexia, Nonproductive cough, ... |
ORPHA:1302 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Single transverse palm... |
OMIM:612651 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Triceps weakness, Weakness of long finger extensor m... |
ORPHA:98913 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Intestinal malrotation, Hamartoma of tongue, Metaphyseal spurs, Postaxial... |
OMIM:613091 |
Orofaciodigital Syndrome Xix |
|
Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Accessory oral frenulum, C... |
OMIM:620107 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath... |
OMIM:227270 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis |
ORPHA:91130 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Intestinal malrotation,... |
OMIM:617866 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms |
OMIM:616341 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of ha... |
ORPHA:100050 |
Congenital Heart Block |
|
Cyanosis, First degree atrioventricular block, Gallop rhythm, Crackles, Congestive heart failure,... |
ORPHA:60041 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Cleft palate, High palate, Polydactyly, Short tibia, Recurrent aspi... |
OMIM:300484 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Hamartoma of tongue, Micrognathia, Postaxial polydactyly, Accessory oral frenulum... |
OMIM:258860 |
Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Ulnar deviation... |
ORPHA:1529 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Postaxial polydactyly, Hypoplasia of the maxilla, Conical tooth, Diastem... |
OMIM:619142 |
X-Linked Intellectual Disability, Siderius Type |
|
Preaxial hand polydactyly, Large hands, Orofacial cleft, Cleft upper lip |
ORPHA:85287 |
20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome, Broad hallux phalanx, Hypoplasia of the maxilla, Narrow mouth, Lo... |
ORPHA:261295 |
Birk-Barel Syndrome |
|
Microretrognathia, Reduced subcutaneous adipose tissue, Tented upper lip vermilion, Single transv... |
OMIM:612292 |
Hydrolethalus Syndrome 2 |
|
Micrognathia, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Preaxial foot... |
OMIM:614120 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Cleft soft palate, Sandal gap, Micrognathia, Abnormality of the dentition, Gingival... |
OMIM:618529 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Clubbing, R... |
OMIM:265120 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pa... |
ORPHA:1106 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Impaired oropharyngeal swallow ... |
ORPHA:2004 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Micrognathia, Upper airway obstruction, High palate, Hypodontia, Narrow mou... |
OMIM:612776 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Thin upper lip vermilion, Neonatal respiratory distress, Death in infancy, ... |
OMIM:615042 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna... |
OMIM:165590 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis, Dehydration |
ORPHA:79159 |
Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal cardiovascular system physiology, Abnormal respiratory sy... |
ORPHA:50251 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Gingival... |
OMIM:616331 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Synostosis ... |
ORPHA:90652 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
Trisomy 4P |
|
Camptodactyly of finger, Abnormality of the dentition, Carious teeth, Preaxial hand polydactyly, ... |
ORPHA:1738 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... |
ORPHA:70589 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cyanosis, Cardiac arrest, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respirator... |
ORPHA:70587 |
Orofaciodigital Syndrome Xvii |
|
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Central Y-shaped m... |
OMIM:617926 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Progeroid facial appearance, Hypoplasia of the maxilla, Genu valgum, Slender long bones with narr... |
OMIM:608154 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:613642 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Cleft palate, Abnormal epiphysis morphology, Long philtrum, Abnormal v... |
ORPHA:90653 |
Radio-Renal Syndrome |
|
Respiratory distress, Micromelia, Micrognathia, High, narrow palate, Dyspnea, Hypoplasia of the r... |
ORPHA:3015 |
Solar Urticaria |
|
Edema, Periorbital edema, Dyspnea, Angioedema, Abnormal tongue morphology, Wheezing, Urticaria, D... |
ORPHA:97230 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea |
OMIM:610992 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricular failur... |
ORPHA:439 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Smooth philtrum, Micrognathia, High, narrow palate, Small hand, Upper limb ... |
OMIM:608799 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Hydrops feta... |
ORPHA:45452 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Preaxial hand polydactyly, Thin upper lip vermilion, Interphalangeal joint contracture of finger,... |
OMIM:606242 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Cardiomyopathy, Dehydration, Anorexia |
ORPHA:79312 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Long palm, Arachnodactyly, Aplasia/Hypoplasia of the tongue, Polyhydramnios... |
ORPHA:2759 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, S... |
OMIM:192445 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... |
ORPHA:99106 |
Tetrasomy 5P |
|
Respiratory distress, Cyanosis, Overlapping toe, Short hallux, Micrognathia, Congestive heart fai... |
ORPHA:3309 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis, Talipes equinovarus, Dysphagia |
OMIM:150260 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Respiratory insufficiency, Abnormal metacarpal morphology, Malar flatt... |
ORPHA:93262 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Cyanosis, Posta... |
OMIM:619879 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Pneumonia, Dyspnea, Clubbing, Inspiratory crackles, Hypoxemia, Restrictive ventilatory ... |
OMIM:610910 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Short philtrum,... |
ORPHA:439822 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... |
OMIM:610921 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ... |
OMIM:201000 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnor... |
ORPHA:950 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Long palm, High palate |
OMIM:300676 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Recurrent pneumonia, Polyhydramnios, Dehydration |
OMIM:616069 |
Joubert Syndrome 17 |
|
Hyperventilation, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Clubbing, Heart m... |
ORPHA:2038 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Andersen-Tawil Syndrome |
|
Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti... |
ORPHA:37553 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly, Abnormal tongue physiology, Abnormal eating behavior, Wide mouth, Obsessiv... |
ORPHA:544254 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly |
OMIM:614526 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Polydactyly |
OMIM:615993 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Dyspnea, Peric... |
ORPHA:199241 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Arachnodactyly, Micrognathia, High, narrow palate, Dyspnea, Wide mouth, Abn... |
ORPHA:2707 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Cyanosis, Single transverse palmar crease, Micrognathia, 2-3 toe syndac... |
ORPHA:3304 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota... |
ORPHA:93259 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... |
ORPHA:2712 |
Congenital Myasthenic Syndrome |
|
Microretrognathia, Congenital hip dislocation, Cyanosis, Sudden episodic apnea, Polyhydramnios, I... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Microretrognathia, Congenital hip dislocation, Cyanosis, Sudden episodic apnea, Polyhydramnios, I... |
ORPHA:98914 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation |
OMIM:264270 |
Familial Cold Urticaria |
|
Urticaria, Polydipsia, Erythema, Dehydration |
ORPHA:47045 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Restlessness, Short distal phalanx of finger |
OMIM:300266 |
Adducted Thumbs Syndrome |
|
High, narrow palate, Velopharyngeal insufficiency, Cleft palate, Respiratory insufficiency, High ... |
OMIM:201550 |
Biemond Syndrome Type 2 |
|
Preaxial polydactyly |
ORPHA:141333 |
Gaucher Disease Type 2 |
|
Respiratory distress, Cardiac arrest, Cough, Dysphagia, Abnormal pattern of respiration |
ORPHA:77260 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi... |
OMIM:114300 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Malabsorption, Bronchiectasis, Dehydration, High palate, Cough |
ORPHA:33110 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Cleft upper... |
OMIM:305400 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough |
OMIM:263000 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
Martsolf Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Short philtrum, Finger... |
OMIM:212720 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... |
OMIM:610913 |
Diaphanospondylodysostosis |
|
Respiratory distress, Narrow pelvis bone, Cleft palate |
ORPHA:66637 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia, Micrognathia, Polyhydramnios, Aglossia, Cleft palate, Narro... |
OMIM:202650 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Schilbach-Rott Syndrome |
|
Micrognathia, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger cutaneous syn... |
OMIM:164220 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
Acute Lung Injury |
|
Respiratory distress, Shock, Pneumonia, Edema, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, H... |
ORPHA:178320 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Tachypnea, Pulmonary edema |
OMIM:267450 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ... |
OMIM:600920 |
Transient Neonatal Diabetes Mellitus |
|
Macroglossia, Dehydration |
ORPHA:99886 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Preaxial polydactyly |
ORPHA:64754 |
Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, High palate, Widely spaced teeth, Advanced eruption of teeth, Short me... |
ORPHA:192 |
Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly, Cleft palate |
OMIM:612913 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Micrognathia, Dilated cardiomyopathy, Respiratory insufficiency, Mitral regurgit... |
OMIM:615959 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Mandibular prognathia, Respiratory distress, Death in infancy, Cerebral hemorrhage, Subdural hemo... |
OMIM:620278 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... |
ORPHA:380 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Macroglossia, High pala... |
ORPHA:254864 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short femur, Micrognathia, Coxa vara, Cleft palate, Abnormal fibula mor... |
ORPHA:1988 |
Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Micrognathia, Asthma, Cleft palate, Short 5th finger, Polydactyly, Ectrodactyly, Atte... |
ORPHA:397590 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short lingual frenulum... |
OMIM:614091 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Micrognathia, Downt... |
OMIM:615761 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu... |
OMIM:602418 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperextensibility of the finger joints, Thin upper lip vermilion, Hyperactivity, Arachnodactyly,... |
OMIM:309520 |
Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ... |
OMIM:156550 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Respiratory insufficiency, Dehydration |
ORPHA:28 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Brachydactyly, Hyperactivity, Restlessness, Micr... |
OMIM:300534 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Polyhydramnios, High palate, Neonatal death, Retrognathia |
OMIM:300219 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Tongue fasciculations, Respiratory insufficiency |
ORPHA:238329 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Congestive heart failure, Dehydration, Cardiomyopathy, Mitral regurgitation... |
OMIM:212140 |
Hydrolethalus |
|
Micromelia, Micrognathia, Polyhydramnios, Postaxial hand polydactyly, Submucous cleft hard palate... |
ORPHA:2189 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Cleidocranial Dysplasia 2 |
|
Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypoplasia of the m... |
OMIM:620099 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Proximal placement of thumb, Micrognathia, High, narrow palate, Deep philt... |
ORPHA:435638 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... |
OMIM:601216 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, High palate... |
OMIM:271225 |
Joubert Syndrome 18 |
|
Trident pelvis, Bowing of the long bones, Postaxial polydactyly, Cleft palate, Lobulated tongue, ... |
OMIM:614815 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Clef... |
ORPHA:79113 |
Stickler Syndrome, Type Ii |
|
Arachnodactyly, Micrognathia, High, narrow palate, Long fingers, Pierre-Robin sequence, Cleft pal... |
OMIM:604841 |
Central Diabetes Insipidus |
|
Polydipsia, Dehydration, Anorexia |
ORPHA:178029 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Micrognathia, Postaxial polydactyly, C... |
OMIM:617925 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Broad long bones, Dental crowding, Fifth finger distal phalanx clinoda... |
OMIM:257850 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Hypoplasia of the maxilla, Long fingers, 2-3 toe syndactyly, Restrictive ventilat... |
OMIM:218000 |
Cohen Syndrome |
|
Short metacarpal, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, High,... |
OMIM:216550 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Polyhydramni... |
ORPHA:596 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Apnea, Micrognathia, Deep phil... |
ORPHA:314655 |
Auriculocondylar Syndrome |
|
Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of t... |
ORPHA:137888 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Small hand, Downturned corners of mouth, Wide mouth, High ... |
OMIM:618779 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Intermittent hyperventilation, Aggressive behavior, Preaxial polydactyly, Abnormal... |
ORPHA:163681 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Prolonged QRS complex, Apnea, Pericardial effusion, Shortened PR interval, ... |
OMIM:261740 |
Acquired Methemoglobinemia |
|
Respiratory distress, Tachycardia, Cyanosis, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
Enteric Anendocrinosis |
|
Dehydration, Portal hypertension, Malabsorption |
ORPHA:83620 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Rhizomelia, Polyhydramnios, Micrognathia, Trismus, Brachioradialis areflexi... |
OMIM:616271 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hy... |
ORPHA:36238 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Syndactyly, Neonatal respiratory distress, Proximal placement of thumb, Mic... |
OMIM:217980 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Irregular femoral epiphysis, Submucou... |
OMIM:613805 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... |
ORPHA:2496 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb |
ORPHA:2091 |
Acute Interstitial Pneumonia |
|
Cyanosis, Crackles, Pericardial effusion, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis... |
ORPHA:79126 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Micrognathia, Thin vermilion border, Short philtrum, Oligohydramnios |
ORPHA:261304 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormality of the dentition, Hypoplasia ... |
ORPHA:178303 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Abnormality of the denti... |
ORPHA:1798 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... |
ORPHA:99103 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, High palate, Talipes equinovarus |
OMIM:620011 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, Conical tooth, Hypoplasia of the maxilla, Anhidrotic ectodermal dysplasia, Carious te... |
OMIM:129400 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Micrognathia, Preaxial polydactyly, Cleft palate, Wide m... |
OMIM:243605 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Cutis marmorata, Coxa valga, Long fingers, ... |
OMIM:614753 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Absent thumb, Submucous cleft hard palate, Pulmonic stenosis, Bifid uvula |
OMIM:619239 |
W Syndrome |
|
Hypoplasia of the ulna, Broad uvula, Radial bowing, Elbow dislocation, Metatarsus adductus, Submu... |
ORPHA:2804 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty... |
OMIM:259600 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognathia, Flat ca... |
OMIM:147891 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Micrognathia, Carious teeth, Trismus, Tapered finger, Dyspnea, Elbow flexion contracture, Narrow ... |
OMIM:272430 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Respiratory distress, Rocker bottom foot, Dysphagia, Adducted thumb |
ORPHA:89844 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Micrognathia, Jaundice, Dehydration, Hip dysplasia, Oligohydramnios |
OMIM:208085 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Tricuspid regurgitation, Hypoplasia of the maxilla, Thick vermilion border, Lo... |
ORPHA:228396 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Anal atresia |
ORPHA:93950 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Micrognathia, Downturned corners of mouth, High palate, Compulsive behavior... |
ORPHA:177907 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crackles, ... |
ORPHA:264675 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Protein-losing enteropathy, Edema, Dehydration |
ORPHA:103910 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Respiratory distress, Hypoplasia of the maxilla, Short metatarsal, Eruptio... |
OMIM:166250 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Proximal placement of thumb, Micrognathia, Esophageal atresia, Preaxial han... |
OMIM:610536 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Pycnodysostosis |
|
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, High palate, Hypoplastic iliac... |
ORPHA:763 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Cleft upper lip, Preaxial polydactyly, Preaxial foot polydactyly, Cleft palate, Patel... |
OMIM:603671 |
Tarp Syndrome |
|
Finger syndactyly, Cyanosis, Apnea, Single transverse palmar crease, Rocker bottom foot, Microgna... |
ORPHA:2886 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Tapered finger, Long fingers, Thick lower lip vermilion, Atrioventricular block, Joint contractur... |
OMIM:614407 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate... |
OMIM:119800 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Exaggerated cupid's bow, Cardiac conduction abnormality, Anorexia, O... |
ORPHA:2131 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
Joubert Syndrome 20 |
|
Postaxial polydactyly, Aggressive behavior, 4-5 toe syndactyly, Respiratory insufficiency, Self-m... |
OMIM:614970 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Polyhydramnios, Preaxial polydactyly, Femoral bowing, Short lo... |
OMIM:615503 |
Reticular Dysgenesis |
|
Dehydration, Malabsorption |
ORPHA:33355 |
Chitayat Syndrome |
|
Hallux valgus, Respiratory distress, Polyhydramnios, Thick vermilion border, Tracheomalacia, Brac... |
OMIM:617180 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Lymphedema, Triangular mouth, Flattened epiphysis, Genu val... |
OMIM:607131 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth philtrum, Widely-spaced incisors |
OMIM:618737 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Polyhydramnios, Micrognathia, 2-3 toe syndactyly, Narrow palate, Respiratory insufficiency, Gingi... |
OMIM:618186 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the... |
ORPHA:193 |
Oromandibular Dystonia |
|
Respiratory distress, Abnormality of the temporomandibular joint, Abnormal mandible morphology, D... |
ORPHA:93958 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Premature... |
ORPHA:3342 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Micrognathia, Absent frontal sinuses, High, narrow palate, Short middle pha... |
OMIM:119600 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Thin upper lip vermilion, Cutis marmorata, Intestinal malrotation, Single transverse ... |
OMIM:614701 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Edema, Polyhydramnios, Finger joint hypermobility, Pericardial effusion, Gi... |
ORPHA:363705 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplast... |
OMIM:151210 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening |
OMIM:241310 |
Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Hamartoma of tongue, Accessory oral f... |
OMIM:277170 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Hypoplasia of the maxilla, Narro... |
ORPHA:2588 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact... |
ORPHA:87 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea, Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Attention... |
OMIM:619580 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Prominence of the premaxilla, Congenital hip dislocation, Deviation of finger, Narrow mouth, Mala... |
ORPHA:2412 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Micrognathia, Hypoplasia of the... |
ORPHA:2554 |
Joubert Syndrome 15 |
|
Preaxial polydactyly |
OMIM:614464 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, 2-3 toe synd... |
OMIM:106260 |
Kagami-Ogata Syndrome |
|
Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Long fingers, Coxa valga, Pulmonic steno... |
OMIM:608149 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Anal stenosis, Hypoplasia of the ulna, Aganglionic megacolon, Radial deviation of the... |
OMIM:607323 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the dentition, Polydactyly, Brachydactyly |
OMIM:615982 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Brachydactyly, Radial bowing, Rhizomelia, Short femur, Po... |
OMIM:100800 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Single transverse palmar crease, Supernumerary tooth, Submucous cleft hard palate, Thick lower li... |
OMIM:617412 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Micrognathia, Deep philt... |
ORPHA:404440 |
Cerebrofacioarticular Syndrome |
|
Syndactyly, Anal stenosis, Irregular dentition, Micrognathia, Hypoplasia of the maxilla, Lymphede... |
ORPHA:314679 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Cutaneous fing... |
OMIM:224690 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Restlessness, Edema of the dorsum of feet, Tapered finger, Edema of the dor... |
ORPHA:544503 |
Synaptic Congenital Myasthenic Syndromes |
|
Mandibular prognathia, Respiratory distress, Scapular winging, Hypoventilation, Neonatal respirat... |
ORPHA:98915 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Dental crowding, Upper limb asymmetry, Polydactyly, High palate, Clinodactyly of the 5th finger |
ORPHA:231140 |
Beta-Ketothiolase Deficiency |
|
Edema, Anorexia, Tachypnea, Dehydration, Hypertension, Agitation, Hypotension, Cough, Oral aversion |
ORPHA:134 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux, Aganglionic megacolon |
OMIM:235750 |
Propionic Acidemia |
|
Apnea, Cerebellar hemorrhage, Tachypnea, Dehydration, Cardiomyopathy |
OMIM:606054 |
Waardenburg Syndrome Type 3 |
|
Tented upper lip vermilion, Camptodactyly of finger, Abnormal finger morphology, Cutaneous finger... |
ORPHA:896 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Broad hallux, Arachnodactyly, Aggressive behavior, Hypoplasia of the maxilla, Hip dislocation, Th... |
ORPHA:481152 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Cyanosis, Clubbing of fingers, Gingival bleeding, Volvulus, Bruising susceptibility,... |
ORPHA:335 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... |
OMIM:175700 |
Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Micrognathia, Postaxial polydactyly, Hypopla... |
OMIM:311900 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Hamartoma of tongue, Micromelia, Postaxial polydactyly, Polyhydramnios, Access... |
OMIM:616546 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum |
ORPHA:93945 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Elbow flexion... |
ORPHA:1145 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Cardiomyopathy, Respiratory insufficiency, Dehydration |
ORPHA:27 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota... |
ORPHA:93260 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Respiratory distress, Thin upper lip vermilion, Tricuspid regurgita... |
OMIM:612863 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi... |
OMIM:601390 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Dyspnea, Clubbing, Hypoxemia, Restrictive ventilatory defect, Cough, Decrease... |
ORPHA:747 |
Esophageal Atresia |
|
Respiratory distress, Barrett esophagus, Cyanosis, Intestinal malrotation, Polyhydramnios, Pylori... |
ORPHA:1199 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Non-midline cleft lip, Cleft palate, ... |
ORPHA:2549 |
Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Smooth philtrum, Scapular winging, Tented upper lip vermilio... |
OMIM:615582 |
Combined Malonic And Methylmalonic Acidemia |
|
Dehydration |
ORPHA:289504 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, 4-5 finger syndactyly, Camptodactyly of toe, 2-3 finger syndactyly, Cleft palate, Im... |
ORPHA:158687 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Preax... |
OMIM:210710 |
Microcephaly-Capillary Malformation Syndrome |
|
Hypoplasia of the maxilla, Cleft palate, Clinodactyly, Short distal phalanx of finger, Brachydactyly |
OMIM:614261 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Respiratory distress, Tongue atrophy, Respiratory failure requiring assisted... |
OMIM:211530 |
Double Outlet Right Ventricle |
|
Tachycardia, Cyanosis, Intestinal malrotation, Submucous cleft hard palate, Tachypnea, Heart murm... |
ORPHA:3426 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly |
OMIM:604757 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Malabsorption, Enter... |
ORPHA:95427 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... |
ORPHA:411703 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Everted upper lip vermilion, Apnea, Nonimmune hydrops fetalis, Polyhydramni... |
OMIM:608013 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Limited elbow movement, Pierre-Robin sequence, Hip dislocation, Coxa vara, ... |
OMIM:183900 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o... |
OMIM:268305 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia... |
OMIM:617895 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly, Polyphagia |
OMIM:617119 |
Cholera |
|
Tachycardia, Miscarriage, Tachypnea, Dehydration, Hypovolemic shock, Hypotension, Aspiration pneu... |
ORPHA:173 |
Hereditary Methemoglobinemia |
|
Lip discoloration, Cyanosis, Exertional dyspnea |
ORPHA:621 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod... |
OMIM:609638 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Polydacty... |
ORPHA:65759 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Trismus, Submucous cleft hard palate, Short distal phalanx of ... |
OMIM:609166 |
3Mc Syndrome 3 |
|
Cleft upper lip, Preaxial polydactyly, Cleft palate, Radioulnar synostosis, Clinodactyly |
OMIM:248340 |
Congenital Short Bowel Syndrome |
|
Intestinal malrotation, Dehydration, Steatorrhea, Congenital shortened small intestine, Intestina... |
OMIM:615237 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Retinal telangiectasia, Malar fla... |
OMIM:620157 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Hypertrophic cardiomyopathy, Respiratory insufficiency due to muscle weakne... |
OMIM:613561 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... |
OMIM:603543 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod... |
OMIM:608670 |
Cystinosis |
|
Portal hypertension, Malabsorption, Dehydration, Polydipsia, Abnormal repetitive mannerisms |
ORPHA:213 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... |
ORPHA:444013 |
Mucopolysaccharidosis, Type Ix |
|
Finger joint hypermobility, Submucous cleft hard palate, Bifid uvula, Acetabular erosions |
OMIM:601492 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Dehydration, Gingivitis, Per... |
ORPHA:534 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Adducted thumb, Deep palmar crease, Short philtrum, Retrognathia, Smooth philt... |
ORPHA:293725 |
Cerebrocostomandibular Syndrome |
|
Short humerus, Anal stenosis, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft s... |
OMIM:117650 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Cyanosis, Left-to-right shunt, Intercostal retractions, Crackles, Righ... |
ORPHA:1329 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Cleft soft palate, Increased nuchal translucency, Pierre-Robin sequence... |
OMIM:620183 |
Diaphanospondylodysostosis |
|
Respiratory distress, Micrognathia, Increased nuchal translucency, Cleft palate, Respiratory insu... |
OMIM:608022 |
Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Single transverse palmar crease, Thick lower lip ver... |
OMIM:618950 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hip contracture, Scapular winging, Tented upper lip vermilion, Tapered toe,... |
OMIM:620369 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Abnormal epiphysis morpholog... |
ORPHA:226313 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Hypoplasia of the maxilla, Polyhydramnios, Hydrops fetalis, Tetraphocom... |
OMIM:215140 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Erosion of oral mucosa, Pneumonia, Abnormal fingertip morphology, Edema, Ab... |
ORPHA:79404 |
Netherton Syndrome |
|
Malabsorption, Asthma, Dehydration, Urticaria, Emphysema |
ORPHA:634 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Coxa vara, Cutaneous ... |
OMIM:614976 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Progeroid facial appearance, Hypo... |
OMIM:231070 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Tented upper lip vermilion, Overlapping toe, High palate, Thick vermilion b... |
OMIM:619383 |
Diamond-Blackfan Anemia 6 |
|
Micrognathia, Cleft upper lip, Short thumb, Cleft palate, Mitral regurgitation, Triphalangeal thu... |
OMIM:612561 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, High iliac wing, Hypoplasia ... |
ORPHA:50814 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Cardiomyopathy, Cerebellar hemorrhage, Dehydration |
OMIM:251000 |
Meckel Syndrome, Type 8 |
|
Cleft upper lip, Pericardial effusion, Cleft palate, Polydactyly, Talipes equinovarus |
OMIM:613885 |
Joubert Syndrome 23 |
|
Tachypnea, Polydactyly, Apnea |
OMIM:616490 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Short fourth metatarsal, Ulnar deviation of the hand, Tented upper lip vermi... |
OMIM:615546 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, High i... |
ORPHA:2780 |
Acrofacial Dysostosis, Cincinnati Type |
|
Micrognathia, Hypoplasia of the maxilla, Cleft palate, Femoral bowing, Flared lower limb metaphys... |
OMIM:616462 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Bifid uvula, Cleft palate, Micrognathia |
OMIM:606164 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Cree Mental Retardation Syndrome |
|
Rocker bottom foot, Cutaneous finger syndactyly, Cleft soft palate, Micrognathia |
OMIM:606851 |
Cystic Fibrosis |
|
Meconium ileus, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Re... |
OMIM:219700 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Hand clenching, Respiratory distress, Dysphagia |
ORPHA:240103 |
Tetanus |
|
Respiratory distress, Tachycardia, Trismus, Tachypnea, Hypertension, Bradycardia, Dysphagia |
ORPHA:3299 |
Marshall Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, Hypoplastic frontal sinuse... |
ORPHA:560 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Thin upper lip vermilion, Polyhydramnios, Micrognathia, Deep philtrum, Dent... |
ORPHA:329178 |
7Q31 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of the maxilla, Asthma, Dysphagia, Clinodactyly of the 2nd finger, Wide... |
ORPHA:251061 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Abnormal heart rate v... |
ORPHA:70588 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to... |
ORPHA:989 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Avascular necrosis of the capital femoral epiphysis, ... |
OMIM:619377 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:601809 |
Crouzon Syndrome |
|
Hypoplasia of the maxilla, Respiratory insufficiency, Narrow palate |
ORPHA:207 |
Nipah Virus Disease |
|
Respiratory distress, Anorexia, Hypotension, Cough |
ORPHA:99825 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Polyhydramnios, Postaxial polydactyly, Respiratory insufficiency, Short long bone, Brachydactyly |
OMIM:615633 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Cardiomyopathy |
ORPHA:26792 |
Meier-Gorlin Syndrome 4 |
|
Micrognathia, Hypoplasia of the maxilla, Patellar aplasia, Thick lower lip vermilion, Slender lon... |
OMIM:613804 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Prominent superficial veins, Flexion contracture of finger, Prematurel... |
OMIM:601812 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Thin upper lip vermilion, Long philtrum |
OMIM:614741 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Nonimmune hydrops fetalis, Portal hypertension, Polyhydramnios, Congestive ... |
ORPHA:367 |
Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Hallux valgus, Cutis marmorata, Sandal gap, Tapered finger, Micrognathia, P... |
OMIM:620072 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Tracheoesophageal fistula, Upper airway obstruction, Dysphagia, St... |
ORPHA:142 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Wheezing, Dehydration, Hypovolemic shock, Cough, Arrhythmia |
ORPHA:171876 |
Campomelic Dysplasia |
|
Respiratory distress, Irregular dentition, Apnea, Anterior tibial bowing, Polyhydramnios, Microgn... |
OMIM:114290 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Congestive heart failure, Nonprod... |
ORPHA:454836 |
Pachyonychia Congenita |
|
Respiratory distress, Natal tooth, Angular cheilitis, Palmoplantar blistering, Palmoplantar kerat... |
ORPHA:2309 |
Nablus Mask-Like Facial Syndrome |
|
Thin upper lip vermilion, Sandal gap, Single transverse palmar crease, Short hallux, Tapered fing... |
OMIM:608156 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Cardiac arrest, High palate, Hypertrophic cardiomyopathy,... |
OMIM:604377 |
Lowry-Maclean Syndrome |
|
Single transverse palmar crease, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of t... |
ORPHA:2409 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Pulmonary edema, Apnea, Edema, Polyhydramnios, High palate... |
ORPHA:79330 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degr... |
OMIM:115197 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Atrial flutter, Atrial fibrillation, Polyhydramnios, First degree atriovent... |
OMIM:160900 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Sandal gap, Hamartoma of tongu... |
OMIM:174300 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:600376 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Neonatal respiratory distress, Micrognathia, Gingival overgrowth, Dehydration, Macroglossia, High... |
ORPHA:96191 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla |
OMIM:618302 |
Buratti-Harel Syndrome |
|
Broad hallux, Velopharyngeal insufficiency, Submucous cleft hard palate, Recurrent pneumonia, Hig... |
OMIM:619314 |
Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Single transverse palmar crease, Hiatus hernia, Tapered finger, Aggressive... |
ORPHA:2896 |
Frontorhiny |
|
Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Fi... |
ORPHA:391474 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Bilateral talipes equinovarus, Cyanotic episode, Micrognathia |
ORPHA:284417 |
Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Arachnodactyly, Dental crowding, Progeroid facial appearance, Proxi... |
OMIM:620370 |
Adnp Syndrome |
|
Respiratory distress, Single transverse palmar crease, Oral-pharyngeal dysphagia, Abnormal finger... |
ORPHA:404448 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Hypoplasia of t... |
ORPHA:794 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Micrognathia... |
OMIM:613848 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Cardiac arrest, Edema, Anorexia, Jaundice, Dilated cardiomyopathy, Tachypnea, Dehydration,... |
ORPHA:20 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Polyhydramnios, Narrow mouth, Mandibular aplasia, Microglossia |
ORPHA:990 |
Trisomy 1Q |
|
Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Polyhydramnios, Preax... |
ORPHA:261344 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, A... |
ORPHA:2750 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Pericar... |
OMIM:139210 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Short metacarpal, Brachydactyly, Hypoplasia of ... |
OMIM:101800 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Dehydration, Orofaci... |
ORPHA:92050 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Thin upper lip vermilion, Overlapping toe, Postaxial polydactyly, Tapered finger, Micrognathia, D... |
OMIM:613792 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... |
OMIM:300106 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrow... |
OMIM:615108 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Micrognathia, Metaphyseal widening, High palate, Microdontia, Arachnodactyl... |
ORPHA:536467 |
Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Right ventricular failure, Increased pulmonary vascular resistance, Nonproductive cough... |
ORPHA:60025 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal ... |
ORPHA:2710 |
Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Polyhydramnios, Preaxial hand polydactyly, Duplication of phalanx of hallux, Stillbirth |
OMIM:263630 |
Lambotte Syndrome |
|
Preaxial foot polydactyly, Retrognathia, Narrow mouth |
OMIM:245552 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Micrognathia, Co... |
ORPHA:1071 |
Dend Syndrome |
|
Clinodactyly of the 4th finger, Downturned corners of mouth, Dehydration, Long philtrum |
ORPHA:79134 |
Sepsis In Premature Infants |
|
Tachycardia, Cyanosis, Abnormal mucociliary clearance, Edema, Dyspnea, Jaundice, Nasal flaring, E... |
ORPHA:90051 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Preaxial hand polydactyly, Foot polydactyly, Attention deficit hyperactivit... |
ORPHA:210548 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Cyanosis, Atrial fibrillation, Gastritis, Congestive h... |
ORPHA:31826 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cardiomyopathy, Cough, Triceps weakness |
ORPHA:86812 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage, Dehydration |
OMIM:243500 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph... |
OMIM:209885 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
Myopathy And Diabetes Mellitus |
|
Hyporeflexia of upper limbs, Shoulder girdle muscle weakness, Respiratory distress |
ORPHA:2596 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mouth |
OMIM:137550 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Intestinal obstruction, Sinusitis, Cutis marmorata, Recurrent intrapulmonary hemorrhage, Myocardi... |
ORPHA:183 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia |
ORPHA:240085 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Death in adolescence, Dehydration, Death in childhood |
OMIM:560000 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Palmoplantar cutis gyrata, Narrow palate, Cleft palate, Anteriorly placed a... |
ORPHA:1555 |
Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Cleft palate, Pos... |
OMIM:614175 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Apnea, Single transverse palmar crease, Rocker bottom foot, Micrognat... |
OMIM:617527 |
Weill-Marchesani Syndrome 1 |
|
Hypoplasia of the maxilla, Tooth malposition, Broad palm, Narrow palate, Mitral regurgitation, Pu... |
OMIM:277600 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Natal tooth, Overlapping toe, Gingival overgrowth, Narrow palate, Anteriorl... |
OMIM:123790 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, High palate, Median cleft pala... |
OMIM:617402 |
Oligomeganephronia |
|
Branchial cyst, Micrognathia, Dehydration, Hypertension, Polydipsia |
ORPHA:2260 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t... |
OMIM:149730 |
Buerger Disease |
|
Vasculitis, Acrocyanosis |
ORPHA:36258 |
Meckel Syndrome, Type 11 |
|
Polydactyly, Oligohydramnios |
OMIM:615397 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Tricuspid regurgitation, Proximal placement of thumb, Abnormal thumb morphology... |
ORPHA:1120 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Abnormally loud pulmonic component of the second heart sound, Cyanosis, Left... |
ORPHA:99104 |
Joubert Syndrome 10 |
|
Deep philtrum, Thick vermilion border, Postaxial polydactyly |
OMIM:300804 |
Lymphatic Malformation 7 |
|
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... |
OMIM:617300 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Bilateral single transverse palmar creases, Palpebral edema, Polyhydramnios... |
ORPHA:50810 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrow... |
OMIM:615109 |
Biemond Syndrome Ii |
|
Preaxial hand polydactyly |
OMIM:210350 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... |
ORPHA:95430 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
Pelger-Huet Anomaly |
|
Abnormality of the dentition, Upper limb undergrowth, Gingival overgrowth, Polydactyly, Short 3rd... |
OMIM:169400 |
Angelman Syndrome |
|
Mandibular prognathia, Hyperactivity, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, M... |
OMIM:105830 |
Glucose/Galactose Malabsorption |
|
Hypertonic dehydration, Malabsorption |
OMIM:606824 |
Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Cleft palate |
OMIM:607361 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Malar flattening, Hip dislocation, Coxa valga |
OMIM:109120 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Cyanosis, Short lingual frenulum, Congestive heart failure, Midgut malrotat... |
ORPHA:2326 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Smooth philtrum, Postaxial polydactyly, Tapered finger, Abnormality of the ... |
OMIM:300968 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Polyhydramnios, Respiratory failure, Death in childhood, Neonatal death, Adduct... |
OMIM:619334 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Intestinal malrotation, Respiratory distress |
ORPHA:2140 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydactyly, Shor... |
OMIM:258850 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
Joubert Syndrome 7 |
|
Central apnea, Episodic tachypnea, Postaxial polydactyly, Postaxial hand polydactyly, Tachypnea, ... |
OMIM:611560 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Polyhydramnios... |
OMIM:300990 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Super... |
OMIM:615948 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short phi... |
OMIM:619950 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Native American Myopathy |
|
Micrognathia, Cleft palate, Respiratory insufficiency, Downturned corners of mouth, High palate, ... |
ORPHA:168572 |
Stickler Syndrome, Type I |
|
Arachnodactyly, Micrognathia, Irregular femoral epiphysis, Submucous cleft hard palate, Pierre-Ro... |
OMIM:108300 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Tapered finger, Aggressive behavior, Submucous cleft hard palate, Downt... |
OMIM:619680 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie... |
OMIM:614299 |
Distal Deletion 19P |
|
Long toe, Arachnodactyly, Hypoplasia of the maxilla, Cleft palate, Short philtrum |
ORPHA:96129 |
Johnson Neuroectodermal Syndrome |
|
Carious teeth, Preaxial hand polydactyly, Cleft palate, Hand polydactyly, Everted lower lip vermi... |
ORPHA:2316 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Micrognathia, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the patella, Dy... |
OMIM:613803 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Absent thumb, Absent radius, Humeroradial synostosis, Cleft palate, For... |
OMIM:251230 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... |
ORPHA:2753 |
Lamellar Ichthyosis |
|
Everted lower lip vermilion, Dehydration, Abnormality of the dentition |
ORPHA:313 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
Kinsship Syndrome |
|
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Downturned corners of mouth... |
OMIM:619297 |
Colchicine Poisoning |
|
Respiratory distress, Myocarditis, Congestive heart failure, Hypovolemia, Cardiorespiratory arres... |
ORPHA:31824 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hypotension, Dehydration |
OMIM:264350 |
Shigellosis |
|
Pneumonia, Anorexia, Intestinal perforation, Myocarditis, Ulcerative colitis, Dehydration, Urtica... |
ORPHA:810 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, ... |
ORPHA:79282 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Aggressive behavior |
OMIM:237310 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Hypoplasia of the maxilla, Congestive heart failure, Short metatarsal, Broad pa... |
OMIM:608328 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Submucous cleft hard palate, Thick lower lip vermilion, Head-banging, Wide... |
OMIM:619103 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Portal hypertension, Hematemesis, Esophageal varix, Dehydration, Hypertension, Neonatal death, Ol... |
OMIM:263200 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Mandibular prognathia, Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinod... |
OMIM:619721 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Shprintzen-Goldberg Syndrome |
|
Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Apnea, Micrognathia, Hypoplasi... |
ORPHA:2462 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Hypertension, Oligohydramnios |
OMIM:616733 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Malabsorption, Carious teeth, Congestive heart failure, Dyspnea, Xero... |
ORPHA:220393 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology, Hypovolemia, Dehydration |
ORPHA:2290 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Rhizomelia, Micrognathia, Submucous cleft hard palate, Epiphyseal stippling, Abnor... |
OMIM:222765 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Short humerus, Thin upper lip vermilion, Short femur, Rhizomelia, Sandal ga... |
OMIM:607143 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Short philtrum, Everted lower li... |
OMIM:601499 |
Braddock Syndrome |
|
Preaxial hand polydactyly, Pulmonary arterial hypertension, Neonatal respiratory distress, Microg... |
ORPHA:52047 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Bowing of the long bones, Apnea, Camptodactyly of finger, Micromelia, Abnor... |
ORPHA:3206 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia |
ORPHA:97285 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hypotension, Dehydration |
OMIM:620125 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Cutis marmorata, Polydactyly, Smooth philtrum |
OMIM:602501 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Amelia involving the lower limbs, Abnormality of the dentition, Hypoplasia... |
ORPHA:1299 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... |
OMIM:101200 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Dyspnea, Dehydration, Syncope, Orthostatic syncope, Rhinitis |
ORPHA:230 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial... |
ORPHA:1553 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Arachnodactyly, Micrognathia, Hypoplasia of the maxilla, Metatarsus adductus, Metaphyseal widenin... |
OMIM:182212 |
Hypercalcemia, Infantile, 1 |
|
Dehydration |
OMIM:143880 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the maxill... |
ORPHA:1101 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Oligodontia, Abnormal metacarpal morphol... |
ORPHA:2095 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hypotension, Dehydration |
OMIM:203400 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Clinodactyly of the 5th finger |
OMIM:167730 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Aganglionic megacolon, Tapered finger, Hypoplasia of the maxilla, Increased... |
OMIM:609460 |
Wolcott-Rallison Syndrome |
|
Metaphyseal dysplasia, Jaundice, Ascites, Dehydration |
ORPHA:1667 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Cyanosis, Dysphagia, Hypertrophic cardiomyopathy, Paroxysmal bursts of laughter |
ORPHA:391428 |
Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate, Micrognathia |
ORPHA:99742 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Respiratory distress, Tachycardia, Episodic tachypnea, Pneumonia, Pericard... |
ORPHA:26793 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachycardia, Cyanosis, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract ob... |
ORPHA:860 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Overlapping toe, Polyhydramnios, Micrognathia, Hypoplasi... |
OMIM:213980 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage |
ORPHA:238459 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Tapered finger, Heart murmur, Short finger, Acrocyanosis |
ORPHA:1867 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig... |
ORPHA:235 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Polyhydramnio... |
ORPHA:96334 |
Atelosteogenesis, Type I |
|
Polyhydramnios, Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Short metacarpal, ... |
OMIM:108720 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Unilateral cle... |
OMIM:619122 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
Eisenmenger Syndrome |
|
Respiratory distress, Ventricular tachycardia, Pedal edema, Supraventricular tachycardia, Tricusp... |
ORPHA:97214 |
Tularemia |
|
Respiratory distress, Tachycardia, Pneumonia, Oral ulcer, Cough, Pleural effusion |
ORPHA:3392 |
Axenfeld-Rieger Syndrome |
|
Anal stenosis, Hypoplasia of the maxilla, Everted lower lip vermilion, Hypodontia, Microdontia |
ORPHA:782 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Cyanosis, Tachycardia, Atrial fibrillation, Junct... |
ORPHA:137675 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Orthostatic hypotension, Dehydration |
OMIM:610600 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Median cleft lip, Postaxial polydactyly, Polyhydramnios, Accessory oral fre... |
OMIM:617088 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Tracheoesophagea... |
ORPHA:59315 |
Netherton Syndrome |
|
Hypernatremic dehydration, Villous atrophy, Allergic rhinitis, Angioedema, Asthma, Urticaria, Chr... |
OMIM:256500 |
Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syndactyly, Cleft ... |
ORPHA:69085 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Rhizomelia, Congestive heart failure, Tibial bowing, Femoral... |
OMIM:616482 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration |
OMIM:602722 |
Treacher-Collins Syndrome |
|
Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, H... |
ORPHA:861 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Myocardial infarcti... |
ORPHA:740 |
Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypotension, Dehydration |
ORPHA:556030 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Dental crowding, Single transverse palmar crease, Polyhydramnios, Micrognat... |
OMIM:180849 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
Dravet Syndrome |
|
Obsessive-compulsive trait, Cyanotic episode, Impulsivity, Tibial torsion |
ORPHA:33069 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Polyhydramnios, Narrow greater sciatic notch, Short phalanx... |
ORPHA:508533 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Cutaneous finger syndac... |
OMIM:211380 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
Mercury Poisoning |
|
Respiratory distress, Tachycardia, Anorexia, Dyspnea, Hypertension, Respiratory failure, Intersti... |
ORPHA:330021 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hypotension, Dehydration |
OMIM:177735 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Singleton-Merten Syndrome 1 |
|
Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Expanded metaca... |
OMIM:182250 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Finger syndactyly, Prematurely aged appearance, Abnormal dental enamel mor... |
ORPHA:2658 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, X... |
ORPHA:238468 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... |
OMIM:311200 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Polydactyly, Clinodactyl... |
ORPHA:313781 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Congestive heart failure, Metaphyseal widening, Recurrent pneumonia, Clubbi... |
OMIM:617303 |
Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Cleft palate, Polyd... |
OMIM:603194 |
Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrow... |
OMIM:158350 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Edema, Protruding tongue, Gingival overgrowth, Telangiectasia, Polydactyly, Ascites... |
ORPHA:93400 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thick upper lip vermilion, Thin upper lip vermilion, Single transverse... |
OMIM:247200 |
Branchio-Oculo-Facial Syndrome |
|
Preaxial hand polydactyly, Deep philtrum, Non-midline cleft lip, Orofacial cleft, Premature grayi... |
ORPHA:1297 |
Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Respiratory distress, Tricuspid regurgitation, Cyanosis, Blood press... |
ORPHA:2299 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Postaxial hand polydact... |
OMIM:610829 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Neona... |
ORPHA:141127 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primar... |
ORPHA:438216 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Cyanosis, Tachycardia, Atrial fibrillation, Orthopnea, Congestive h... |
ORPHA:980 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial ... |
OMIM:263520 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High... |
OMIM:220110 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Marshall-Smith Syndrome |
|
Irregular dentition, Apnea, Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Gl... |
OMIM:602535 |
Hyperoxaluria, Primary, Type I |
|
Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Dehydration, Int... |
OMIM:259900 |
Ivic Syndrome |
|
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... |
ORPHA:2307 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly ... |
ORPHA:2636 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac... |
OMIM:610655 |
Vipoma |
|
Anorexia, Malabsorption, Respiratory insufficiency due to muscle weakness, Erythema, Dehydration,... |
ORPHA:97282 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Ventricular tachycardia, Respiratory insufficiency, Cardiomyopat... |
ORPHA:159 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Paroxysmal atrial fibrillation, Hypercapnia, Reduced forced vital capacity,... |
OMIM:164310 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Congest... |
OMIM:615512 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, High palate, Bradycardia |
OMIM:619272 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration |
OMIM:251120 |
Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
Chiari Malformation Type Ii |
|
Cyanosis, Inspiratory stridor, Dysphagia |
OMIM:207950 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cyanosis, Pericardia... |
ORPHA:555874 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Foot oligodactyly, Triphalangeal thumb, Broad hall... |
OMIM:154400 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Vasculitis, Erythema, Urticaria, Recurrent a... |
ORPHA:343 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Anorexia, Malabsorption, Erythema, Hydrops fetalis, Dehydration, Death in childh... |
OMIM:557000 |
Acromelic Frontonasal Dysplasia |
|
Median cleft lip, Upper airway obstruction, Patellar hypoplasia, Wide mouth, Talipes equinovarus,... |
ORPHA:1827 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Dehydration |
OMIM:620126 |
Bardet-Biedl Syndrome 19 |
|
Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals |
OMIM:615996 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3 toe syndacty... |
OMIM:614099 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Dehydration, Dysphagia, Hypertension, Agitation, Bradycardia, Hy... |
ORPHA:94093 |
Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Anal stenosis, Short metacarpal, Hypoplastic scapulae, Micrognathia, Hypoplasia of th... |
OMIM:263650 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Dehydration |
OMIM:251110 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Tachy... |
ORPHA:90068 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Respiratory distress, Downturned corners of mouth, Short philtrum, Recurre... |
OMIM:616268 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Pulmonary embolism, Intracranial hemorrhage, Colitis, Cough, Raynaud phenom... |
ORPHA:3260 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ... |
OMIM:303600 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Cleft soft palate, Micrognathia, Hypoxemia, Submucous cleft soft palate, Pulmonary arterial hyper... |
ORPHA:2282 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Abnormal repetitive mannerisms, Agitation, Cerebral ischemia |
ORPHA:927 |
Crouzon Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Dental crowding |
OMIM:123500 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin... |
OMIM:619503 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Polyhydramnios, Velopharyngeal insufficiency, Non-midline cleft... |
ORPHA:199302 |
Doors Syndrome |
|
Respiratory distress, Short lingual frenulum, Polyhydramnios, Abnormal finger morphology, Downtur... |
ORPHA:79500 |
Renal Hypoplasia |
|
Hypertension, Polydipsia, Dehydration |
ORPHA:93101 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth... |
OMIM:305100 |
Pyruvate Carboxylase Deficiency |
|
Anorexia, Tachypnea, Dehydration, Compulsive behaviors, Abnormal temper tantrums, Recurrent hand ... |
ORPHA:3008 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Movement abnormality of the tongue, Open mouth, Dysphagia |
ORPHA:98805 |
Lujo Hemorrhagic Fever |
|
Shock, Respiratory distress, Generalized edema, Crackles, Facial edema, Myocarditis, Nonproductiv... |
ORPHA:319213 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Postaxial polydactyly, Esophageal varix, Inflammation of the large intestine, H... |
OMIM:614576 |
Aicardi-Goutieres Syndrome 1 |
|
Erythema, Vasculitis, Multiple gastric polyps, Cardiomyopathy, Prolonged neonatal jaundice, Acroc... |
OMIM:225750 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Short humerus, Short metacarpal, Micrognathia, Narrow mouth, Humeroradial s... |
ORPHA:3404 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Poems Syndrome |
|
Edema, Metaphyseal sclerosis, Respiratory insufficiency due to muscle weakness, Pericardial effus... |
ORPHA:2905 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Compulsive behaviors, Promi... |
OMIM:615873 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Hallux valgus, Cleft soft palate, Tapered finger, Abnormal toe morphology, ... |
ORPHA:268261 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Ulnar deviation of the hand |
OMIM:122880 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Hypoplasia of the maxilla, Cleft palate, Finger clinodactyly, Pectoral m... |
ORPHA:306542 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Polyhydramnios, Micrognathia, Open bite, Abnormality of ... |
OMIM:115150 |
Criss-Cross Heart |
|
Cyanosis, Tricuspid stenosis, Respiratory insufficiency, Pulmonic stenosis, Mitral stenosis, Supr... |
ORPHA:1461 |
Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Micrognathia, Abnormality of the dentition, Preaxial ... |
ORPHA:261318 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Single transverse palmar crease, Protruding tongue, Submucous cleft hard palate,... |
OMIM:618106 |
Congenital Enterovirus Infection |
|
Respiratory distress, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hydrops f... |
ORPHA:292 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Limited elbow movement, Cleft upper lip, Hip dislocation, Cleft pal... |
OMIM:265050 |
Familial Atrial Fibrillation |
|
Atrial fibrillation, Myocardial infarction, Dyspnea, Syncope, Palpitations |
ORPHA:334 |
Mend Syndrome |
|
Microretrognathia, Hyperactivity, Broad hallux, Overlapping toe, Micrognathia, Long fingers, 2-3 ... |
OMIM:300960 |
Dyskeratosis Congenita |
|
Esophageal stenosis, Telangiectasia of the skin, Malabsorption, Hypoplasia of the maxilla, Cariou... |
ORPHA:1775 |
Floating-Harbor Syndrome |
|
Hypoplasia of the maxilla, Humeral pseudarthrosis, Oligodontia, Short philtrum, Compulsive behavi... |
ORPHA:2044 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mou... |
ORPHA:1051 |
Stickler Syndrome |
|
Arachnodactyly, Abnormal dental enamel morphology, Protrusio acetabuli, Micrognathia, Hypoplasia ... |
ORPHA:828 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Dental crowding, Abnormality of the d... |
ORPHA:769 |
Joubert Syndrome 27 |
|
Thick lower lip vermilion, Polydactyly |
OMIM:617120 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Thin upper lip vermilion, Deep philtrum, Submucous cleft hard palate, Elbow flex... |
OMIM:619194 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Toe syndactyly, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip... |
OMIM:604292 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Toe syndactyly, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Hypoplasia of... |
OMIM:129900 |
Cranioectodermal Dysplasia 2 |
|
Polyhydramnios, Micrognathia, Hydrops fetalis, Ectodermal dysplasia, Fused teeth, High palate, Wi... |
OMIM:613610 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Overlapping toe, Systolic heart murmur, Generalized edema |
OMIM:617478 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Dehydration |
OMIM:251100 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress, Metaphyseal sclerosis, Metaphyseal chondrody... |
OMIM:260400 |
Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Micrognathia, Cleft lip, Cleft palate, Submucous cleft of soft and hard... |
OMIM:301022 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Respiratory distress, Congenital hip dislocation, Single transverse palmar crease... |
ORPHA:508488 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Hypoplastic ischia |
OMIM:616910 |
Velocardiofacial Syndrome |
|
Abnormality of the hand, Aggressive behavior, Velopharyngeal insufficiency, Submucous cleft hard ... |
OMIM:192430 |
Retinitis Pigmentosa 89 |
|
Esophageal varix, Postaxial polydactyly |
OMIM:618955 |
1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Thick vermilion border, Talipes equinovarus, Cleft palate |
ORPHA:250999 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood |
OMIM:615597 |
Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Micromelia, Micrognathia, Polyhydramnios, Trismus, Submucous cleft h... |
ORPHA:2671 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Dysphagia, Aggressive behavior, Genu valgum |
ORPHA:488627 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Respiratory distress, Tachycardia, Sinusitis, Pneumonia, Edema, Myocarditis, Tachypnea, Ca... |
ORPHA:36234 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Aggressive behavior, Pyloric stenosis, Subm... |
ORPHA:457279 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Polyhydramnios, Cleft palate, Narrow mouth, M... |
ORPHA:1790 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L... |
OMIM:620067 |
Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Anorexia, Aggressive behavior, Nonproductive cough, Jaundice, H... |
ORPHA:99826 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure, Dysphagia |
OMIM:620166 |
Pearson Syndrome |
|
Cardiac conduction abnormality, Hydrops fetalis, Dehydration, Dysphagia, Corneal stromal edema, C... |
ORPHA:699 |
Lysosomal Acid Lipase Deficiency |
|
Jaundice, Esophageal varix, Hypovolemia, Dehydration, Hypotension, Steatorrhea, Pulmonary arteria... |
ORPHA:275761 |
Eosinophilic Fasciitis |
|
Muscular edema, Acrocyanosis, Edema |
ORPHA:3165 |
Episodic Ataxia Type 1 |
|
Hand clenching, Respiratory distress |
ORPHA:37612 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Malar flattening, Cleft palate, Micrognathia |
OMIM:613309 |
Joubert Syndrome 14 |
|
Tented upper lip vermilion, Postaxial polydactyly, Cleft palate, Intracranial hemorrhage, Hyperte... |
OMIM:614424 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Aganglionic megacolon, Dental crowding, Postaxial polydactyly, High, narrow palate, P... |
OMIM:209900 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Viss Syndrome |
|
Chronic gastritis, Prominent superficial blood vessels, Epidural hemorrhage, Polyhydramnios, Micr... |
OMIM:619472 |
Curry-Jones Syndrome |
|
Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Duplication of thumb phalan... |
OMIM:601707 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia |
ORPHA:254913 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Neonatal asphyxia, Hypotension, Dehydration |
ORPHA:90791 |
Desmosterolosis |
|
Intestinal malrotation, Micromelia, Micrognathia, Metatarsus adductus, Submucous cleft hard palat... |
ORPHA:35107 |
Microsporidiosis |
|
Sinusitis, Pneumonia, Anorexia, Myocarditis, Dehydration, Rhinitis, Glossitis |
ORPHA:2552 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Anorexia |
ORPHA:79242 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
Au-Kline Syndrome |
|
Overlapping toe, Postaxial polydactyly, Coxa valga, Dental malocclusion, Bifid tongue, Cleft pala... |
OMIM:616580 |
Farber Disease |
|
Respiratory distress, Abnormality of the hand, Short toe, Abnormality of the elbow, Hydrops fetal... |
ORPHA:333 |
Mgat2-Cdg |
|
Respiratory distress, Dental crowding, Hydrops fetalis, Stereotypical hand wringing, Reflex asyst... |
ORPHA:79329 |
Diamond-Blackfan Anemia |
|
Cleft soft palate, Nonimmune hydrops fetalis, Micrognathia, Absent thumb, Short thumb, Partial du... |
ORPHA:124 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Micrognathia, Hy... |
OMIM:261540 |
Cardiofaciocutaneous Syndrome |
|
Abnormal morphology of ulna, Lymphedema, Submucous cleft hard palate, Genu valgum, Excessive wrin... |
ORPHA:1340 |
Hogue-Janssen Syndrome 2 |
|
Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Hip dysplasia, Deviation of the ... |
OMIM:616362 |
9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Abnormal tongue morphology, Polydactyly, Hip dysplasia |
ORPHA:531151 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Dehydration |
OMIM:615453 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Hyperactivity, Abnormal eating behavior, Ast... |
ORPHA:209905 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Hypertonic dehydration |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Hypertonic dehydration |
OMIM:304800 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Hallux valgus, Broad hallux, Dental crowding, H... |
OMIM:614188 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Central hypoventilation, Aggressive behavior, Celiac disease, Asthma, ... |
ORPHA:293987 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Myocardial infarction, Intestinal perforation, Rectal prolapse, Colonic stenosis, Dehydration, Hy... |
ORPHA:90038 |
Vacterl/Vater Association |
|
Finger syndactyly, Polyhydramnios, Preaxial hand polydactyly, Non-midline cleft lip, Tracheoesoph... |
ORPHA:887 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Polyhydramnios, Anorexia, Hypovolemia, Polydipsia |
ORPHA:223 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Preaxial hand polydactyly, Talipes equinovarus, Anal atresia |
OMIM:601389 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Periorbital edema, Episodic respiratory distress, Stridor, Paroxysmal dy... |
ORPHA:141083 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Dental crowding, Left ventricular noncompaction cardiomyopathy, Impulsivity, Aggre... |
OMIM:300967 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage, Hypotensio... |
ORPHA:340 |
Proximal Renal Tubular Acidosis |
|
Malabsorption, Enamel hypomineralization, Hypovolemia, Dehydration, Polydipsia |
ORPHA:47159 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Polyhydramnios, Micrognathia, High palate, Compulsive behaviors, Aspiration, Abn... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Polyhydramnios, Micrognathia, High palate, Compulsive behaviors, Aspiration, Abn... |
ORPHA:353277 |
Meier-Gorlin Syndrome 7 |
|
2-4 finger syndactyly, Anal stenosis, Bowing of the legs, Heart block, Preaxial hand polydactyly,... |
OMIM:617063 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Attention deficit hyp... |
OMIM:619227 |
Adrenal Hypoplasia, Congenital |
|
Dehydration |
OMIM:300200 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Microretrognathia, Aortic regurgitation, Thin upper lip vermilion, Broad h... |
ORPHA:508498 |
Tolchin-Le Caignec Syndrome |
|
Arachnodactyly, Micrognathia, Submucous cleft hard palate, High palate, Attention deficit hyperac... |
OMIM:618971 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Hyperactivity, Single transverse palmar crease, Micrognath... |
OMIM:223370 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Microgna... |
ORPHA:221120 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly placed ... |
ORPHA:798 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Transient ischemic attack, Respiratory insufficiency due to musc... |
ORPHA:365 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension |
ORPHA:247257 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Aggressive behavior, Postaxial polydactyly, Oligohydramnios |
OMIM:615824 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Respiratory distress, Sudden cardiac death, Malabsorption, Intestina... |
ORPHA:537 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Clinodactyly of the 5th finger |
ORPHA:2399 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Aganglionic megacolon, Toe synda... |
ORPHA:959 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Tricuspid regurgitation, Cleft soft palate, Polyhydramnios, Mitral regurgitation, Talipes equinov... |
OMIM:614557 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Apnea, Concentric hypertrophic cardiomyopathy, Respiratory insufficie... |
OMIM:252010 |
Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Respiratory insufficiency, Cyanosis, Apnea, Meconium ileus |
OMIM:617239 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Odontogenic keratocysts of the jaw, Down-sloping shoulders, Cleft upper li... |
OMIM:109400 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ap... |
ORPHA:348 |
Zttk Syndrome |
|
Aortic regurgitation, Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft ha... |
OMIM:617140 |
Q Fever |
|
Respiratory distress, Pericarditis, Pneumonia, Anorexia, Pericardial effusion, Myocarditis, Vascu... |
ORPHA:781 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Neonatal respiratory distress, Miscarriage, Preaxial hand polydactyly, Clinodactyly of the 5th fi... |
ORPHA:96179 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Macular purpura, Acrocyanosis, Internal hemorrhage |
ORPHA:49566 |
Glucose-Galactose Malabsorption |
|
Dehydration |
ORPHA:35710 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Hypoplas... |
ORPHA:233 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Postaxial hand polydactyly |
ORPHA:2519 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hand oligodactyly, Hydrops fetalis, Aplasia of the ulna |
OMIM:276822 |
Joubert Syndrome 16 |
|
Polydactyly |
OMIM:614465 |
Degcags Syndrome |
|
Polyhydramnios, Micrognathia, Oral-pharyngeal dysphagia, Premature graying of hair, High palate, ... |
OMIM:619488 |
Marden-Walker Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Micrognathia, Metatarsus adductus, Pyloric stenosis, Sub... |
ORPHA:2461 |
Rodrigues Blindness |
|
Ectodermal dysplasia, Nasal flaring, Tooth malposition |
OMIM:268320 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Arachnodactyly, Micrognathia, High palate, Bradycardia, Emphysema, ... |
OMIM:614437 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Congenital hip dislocation, Abnormal periodontium morphology, High palate, ... |
ORPHA:480880 |
Juvenile Nephropathic Cystinosis |
|
Abnormal long bone morphology, Polydipsia, Hypovolemia, Dehydration |
ORPHA:411634 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Tricuspid regurgitation, Short femur, Pneumothorax, Talipes equinovarus, Sh... |
OMIM:620306 |
Restrictive Dermopathy 1 |
|
Natal tooth, Prominent superficial blood vessels, Rocker bottom foot, Polyhydramnios, Micrognathi... |
OMIM:275210 |
Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Edema, Gastrointestinal stroma t... |
ORPHA:221 |
Joubert Syndrome 37 |
|
High palate, Postaxial polydactyly |
OMIM:619185 |
Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Dehydration |
OMIM:214700 |
Ablepharon Macrostomia Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Hypoplasia of the maxilla, Wide mouth, Excessive wrinkle... |
ORPHA:920 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Short humerus, Short femur, Apnea, Aggressive behavior, Orofacial cleft, Po... |
ORPHA:17 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Nar... |
OMIM:154500 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal acetabulum morphology, Apnea, Postaxial polydactyly, Micrognathia, Rhizomelic leg shorte... |
ORPHA:397715 |
Classical Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Rectal prolapse, Shoulder dislocation, Ecchymosis, Ac... |
ORPHA:287 |
Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifid uvula, Exa... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifid uvula, Exa... |
ORPHA:352665 |
Vater/Vacterl Association |
|
Syndactyly, Absent radius, Esophageal atresia, Short thumb, Hypoplasia of the radius, Preaxial po... |
OMIM:192350 |
Cerebrooculonasal Syndrome |
|
Postaxial polydactyly, Postaxial hand polydactyly, Cleft palate, Narrow palate, Downturned corner... |
OMIM:605627 |
Primary Hyperoxaluria |
|
Cutis marmorata, Abnormality of the dentition, Heart block, Raynaud phenomenon, Arterial occlusio... |
ORPHA:416 |
Japanese Encephalitis |
|
Respiratory distress, Pulmonary edema, Anorexia, Elbow flexion contracture, Distal upper limb mus... |
ORPHA:79139 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Edema, Polyhydramnios, Epiphyseal stippling, Abnormal pelvic g... |
OMIM:302960 |
Hydrolethalus Syndrome 1 |
|
Median cleft lip, Polyhydramnios, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydac... |
OMIM:236680 |
Double Outlet Left Ventricle |
|
Cyanosis, Tachypnea, Orofacial cleft, Abnormal right ventricular function, Systolic heart murmur |
ORPHA:3427 |
Faciocardiomelic Syndrome |
|
Micrognathia, Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis... |
OMIM:612731 |
Myasthenia Gravis |
|
Raynaud phenomenon, Dyspnea, Acrocyanosis, Dysphagia |
ORPHA:589 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Tachycardia, Tricuspid regurgitation, Congestive heart failure, Stridor, Ma... |
ORPHA:505248 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Jaundice, Neonatal death |
OMIM:231680 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contracture of the proximal interphalange... |
OMIM:300166 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Hyperactivity, Palmar pits, Narrow... |
ORPHA:77301 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, Polyhydramnios, Congestive heart failure, Jaundice, Ascites |
OMIM:617156 |
Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Short femur, Metaphyseal spurs, Polyhydramnios, Femoral bowing, Short long ... |
OMIM:618188 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Single transverse palmar crease, Aggressive behavior, Nasal flaring, As... |
ORPHA:466943 |
Culler-Jones Syndrome |
|
Postaxial polydactyly, Cleft palate, Cleft upper lip |
OMIM:615849 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Orofacial cleft, Downturned corners of mouth, Shor... |
OMIM:194190 |
Distal Renal Tubular Acidosis |
|
Respiratory insufficiency due to muscle weakness, Polydipsia, Dehydration |
ORPHA:18 |
Walker-Warburg Syndrome |
|
Metatarsus valgus, Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:899 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cyanosis, Congenital hip dislocation, Polyhydramnios, Posteriorly placed an... |
OMIM:306955 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Metaphyseal widening, Dehydration, Genu valgum, Dysphagia, Polydipsia |
OMIM:219800 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Camptodactyly of finger, Polyhydramnios, Micrognathia, Submucous cleft hard palate, Bifid uvula, ... |
ORPHA:3047 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Micrognathia, Polyhydramnios, Swollen lip, Calcaneovalgus deformity, Neonatal death, ... |
OMIM:256520 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Transient ischemic attack, Myocardial infarction, Jaundice, Prolonged neona... |
OMIM:274150 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Miscarriage, Hypovolemia, Dehydration, Hypotension, Hypocapnia, Premature fusion of the ra... |
ORPHA:90794 |
Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Arachnodactyly, Single transverse palmar crease, Overlapping toe, Micrognat... |
ORPHA:83617 |
Meckel Syndrome, Type 1 |
|
Smooth philtrum, Natal tooth, Bowing of the long bones, Syndactyly, Thin upper lip vermilion, Int... |
OMIM:249000 |
Bartter Syndrome, Type 3 |
|
Hypotension, Dehydration |
OMIM:607364 |
Pyknoachondrogenesis |
|
Sclerosis of skull base, Craniofacial hyperostosis, Abnormal intramembranous ossification, Poorly... |
ORPHA:3003 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Tricuspid regurgitation, Abnormal dental enamel morphology, Micrognathia, D... |
ORPHA:2556 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Volvulus, Tracheoesophageal ... |
ORPHA:210122 |
Infantile Nephropathic Cystinosis |
|
Polydipsia, Dehydration |
ORPHA:411629 |
Meckel Syndrome |
|
Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Micrognathia, Preaxial hand polydacty... |
ORPHA:564 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:3044 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Arachnodactyly, Abnormality of the philtrum, Short hallux, Micrognathia,... |
ORPHA:280 |
Infantile Krabbe Disease |
|
Abnormal heart rate variability, Respiratory failure, Shoulder girdle muscle weakness, Respirator... |
ORPHA:206436 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Micrognathia, Cleft upper lip, Esophageal atresia, Abnormal pelvis bone ossification,... |
ORPHA:93271 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Mitral stenosis, Submucous cleft hard palate, Aortic valve stenosis, Bifid uvula |
OMIM:617660 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Transient ischemic attack, Arachnodactyly, Absent thumb, Hypoplasia of the maxilla, Cleft palate,... |
ORPHA:500150 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Downturned corners of mouth, Hypovolemia, Dehydration |
ORPHA:99885 |
Primrose Syndrome |
|
Hip contracture, Restlessness, Aggressive behavior, Hypoplasia of the maxilla, Metatarsus adductu... |
OMIM:259050 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Restlessness, Single transverse palmar crease, Oral-pharyngeal dysphagia, S... |
OMIM:615273 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Polyhydramnios, Narrow greater sciatic notch, Short palm, Exaggerated medi... |
OMIM:312870 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Hypogeusia, Hypertension, Decreased sensitivity to hypoxemi... |
OMIM:223900 |
Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Peptic ulcer, Anorexia, Shortened QT interval, Hematemesis, Gingival fibromatosis... |
ORPHA:652 |
Aicardi Syndrome |
|
Intestinal polyposis, Prominence of the premaxilla, Malabsorption, Hiatus hernia, Cleft upper lip... |
ORPHA:50 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Pallister-Hall Syndrome |
|
Bifid uvula, Paroxysmal bursts of laughter, Microretrognathia, Mesoaxial polydactyly, Radial bowi... |
ORPHA:672 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Joint swelling, Stomatitis |
OMIM:612852 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hypovolemia, Hypotension, Dehydration |
ORPHA:168558 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Cyanosis, Transient ischemic attack, Edema, Polyhydramnios, Pericardial eff... |
ORPHA:51608 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hypovolemia, Hypotension, Dehydration |
ORPHA:289548 |
Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
Plague |
|
Respiratory distress, Chapped lip, Tachycardia, Edema, Anorexia, Hematemesis, Abnormality of the ... |
ORPHA:707 |
Hardikar Syndrome |
|
Cleft soft palate, Portal hypertension, Intestinal malrotation, Hematemesis, Celiac disease, Jaun... |
OMIM:301068 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Short philtr... |
ORPHA:261537 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Hallux valgus, Hyperactivity, Toe syndactyly, Arachnodactyly, Pyloric steno... |
ORPHA:464306 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
Coccidioidomycosis |
|
Respiratory distress, Pericarditis, Pneumonia, Cough, Vasculitis, Abnormal long bone morphology, ... |
ORPHA:228123 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration, Wrist flexion contracture, Talipes equinovarus |
OMIM:618733 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis, Left-to-right shunt, Congestive heart failure, Left ventricular outflow tract obstructi... |
ORPHA:99050 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Respiratory distress, Irregular iliac... |
ORPHA:99646 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Orofacial cleft, High palate, Clinodactyly of the 5th finger, Self-mutilation, Bifid uvula, Oppos... |
OMIM:607872 |
Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Absent radius, Esophageal atresia, Short thumb, Preaxial hand polydactyly, Partial ... |
OMIM:227646 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Tapered finger, Short uvula, Submucous... |
OMIM:619539 |
Nocardiosis |
|
Respiratory distress, Pericarditis, Pneumonia, Anorexia, Productive cough, Nonproductive cough, D... |
ORPHA:31204 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Widely space... |
ORPHA:2152 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
Wiedemann-Rautenstrauch Syndrome |
|
Downturned corners of mouth, Short philtrum, Premature loss of teeth, Long toe, 2-3 toe syndactyl... |
ORPHA:3455 |
Unilateral Polymicrogyria |
|
Pseudobulbar paralysis, Cyanosis, Apnea, Epistaxis |
ORPHA:268943 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Anal stenosis, Hypoplasia of the maxilla, Oligodontia, Short philtrum, ... |
OMIM:180500 |
Khan-Khan-Katsanis Syndrome |
|
Tented upper lip vermilion, Tricuspid regurgitation, Postaxial polydactyly, Micrognathia, Triangu... |
OMIM:618460 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Thin vermilion border, High palate, Polydactyly, Retrognathia |
OMIM:619869 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Micrognathia, Submucous cleft hard palate, Cleft palate, Solitary median maxill... |
OMIM:301043 |
Bardet-Biedl Syndrome 20 |
|
Postaxial polydactyly, Postaxial hand polydactyly, Asthma, 2-3 toe syndactyly, Preaxial foot poly... |
OMIM:619471 |
Bartter Syndrome, Type 2, Antenatal |
|
Polydipsia, Polyhydramnios, Low-to-normal blood pressure, Dehydration |
OMIM:241200 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Short philtr... |
ORPHA:261552 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Autoamputation of digits, Jaundice, Prolonged neonatal jaundice, Ascites |
OMIM:256810 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha... |
ORPHA:805 |
Leptospirosis |
|
Respiratory distress, Pericarditis, First degree atrioventricular block, Anorexia, Jaundice, Reti... |
ORPHA:509 |
Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality, Abnormality of the dentition |
ORPHA:349 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Gastritis, Pneumonia, Malabsorption, Ileus, Urticaria, Interstitial pneumon... |
ORPHA:37042 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Cyanosis, Tachypnea, Abnormal heart valve physiology, Pulmonic... |
ORPHA:3384 |
Loeys-Dietz Syndrome 2 |
|
Syndactyly, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Micr... |
OMIM:610168 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Celiac disease, Short thumb, Velopharyngeal insufficiency, Submucous cleft hard pal... |
OMIM:619325 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Cyanosis, Tricuspid stenosis, Edema, Valvular pulmonary stenosis, Hydrop... |
OMIM:212093 |
Gitelman Syndrome |
|
Prolonged QT interval, Respiratory distress, Salt craving, Raynaud phenomenon, Pericardial effusi... |
ORPHA:358 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla |
OMIM:614886 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Cardiac conduction abnormality, Dyspnea, Dilated cardiomyopathy, Episodic respiratory dist... |
ORPHA:255210 |
Listeriosis |
|
Respiratory distress, Pericarditis, Miscarriage, Pneumonia, Myocarditis, Congestive heart failure... |
ORPHA:533 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Proximal placement of thumb, Hiatus hernia, Cleft upper lip, Recurr... |
OMIM:304050 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Cleft soft palate, Genu valgum, Downturned corners of mouth, Smooth philtrum |
OMIM:619321 |
Hypermobile Ehlers-Danlos Syndrome |
|
Apnea, Abnormality of the wrist, Elbow dislocation, Malabsorption, Abnormality of the gingiva, Ab... |
ORPHA:285 |
Bartter Syndrome Type 4 |
|
Hypertension, Polyhydramnios, Dehydration |
ORPHA:89938 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion, Cerebral edema |
ORPHA:1546 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Anorexia, Or... |
ORPHA:95455 |
Joubert Syndrome 39 |
|
Hypopnea, Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Raynaud phenomenon, ... |
ORPHA:48435 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Mitral regurgitation, Postaxial polydactyly |
OMIM:603387 |
Bartter Syndrome, Type 1, Antenatal |
|
Polyhydramnios, Low-to-normal blood pressure, Dehydration |
OMIM:601678 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Triphalangeal thumb, 2-4 finger syndactyly, 2-3 toe syndactyly, Metatarsal syno... |
OMIM:107480 |
Goodpasture Syndrome |
|
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Exertional dyspnea... |
OMIM:233450 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Intestinal malrotation |
OMIM:616749 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
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Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Long philtrum, Broad thumb |
ORPHA:2211 |
Bardet-Biedl Syndrome 12 |
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Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
Isolated Arrhinia |
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Respiratory distress, Hypoplasia of the nasal bone |
ORPHA:1134 |
Branchiooculofacial Syndrome |
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Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Malrotation of colon,... |
OMIM:113620 |
Ventriculomegaly With Cystic Kidney Disease |
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Polyhydramnios, Postaxial polydactyly |
OMIM:219730 |
Biotinidase Deficiency |
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Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
Okamoto Syndrome |
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Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intestinal malrotati... |
ORPHA:2729 |
Scimitar Syndrome |
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Respiratory distress, Left-to-right shunt, Heart block, Congestive heart failure, Pneumothorax, C... |
ORPHA:185 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
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Attention deficit hyperactivity disorder, Submucous cleft hard palate, Compulsive behaviors |
OMIM:618891 |
Congenital Total Pulmonary Venous Return Anomaly |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Tricuspid ... |
ORPHA:99125 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Edema, Polyhydramnios, Neonatal death, Syndactyly, Tricuspid regurgitation, Portal hypertension, ... |
OMIM:619534 |
Pmm2-Cdg |
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Mandibular prognathia, Respiratory distress, Pericarditis, Thin upper lip vermilion, Angina pecto... |
ORPHA:79318 |
Familial Dysautonomia |
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Hypertension, Orthostatic hypotension, Acrocyanosis, Tachycardia |
ORPHA:1764 |
Senior-Loken Syndrome 8 |
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Polydactyly |
OMIM:616307 |
Holoprosencephaly 2 |
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Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary ... |
OMIM:157170 |
Restrictive Dermopathy |
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Natal tooth, Camptodactyly of finger, Polyhydramnios, Micrognathia, Submucous cleft hard palate, ... |
ORPHA:1662 |
Craniofacial Microsomia 1 |
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Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Partial duplication of thumb phalanx, C... |
OMIM:164210 |
Kasabach-Merritt Syndrome |
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Respiratory distress, Hypopnea, Petechiae, Purpura |
ORPHA:2330 |
Primary Fanconi Renotubular Syndrome |
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Dehydration |
ORPHA:3337 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Hyperactivity, Broad hallux, Postaxial polydactyly, Hip dysplasia, Clinodactyly of the 5th finger... |
ORPHA:457284 |
Legius Syndrome |
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Hyperactivity, Paroxysmal atrial tachycardia, Diaphyseal dysplasia, Polydactyly, Pulmonic stenosi... |
ORPHA:137605 |
Townes-Brocks Syndrome |
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Broad hallux phalanx, Rectoperineal fistula, Toe syndactyly, Preaxial hand polydactyly, Partial d... |
ORPHA:857 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Narrow mouth... |
OMIM:614748 |
Aicardi-Goutières Syndrome |
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Cutis marmorata, Raynaud phenomenon, Prolonged neonatal jaundice, Hypertrophic cardiomyopathy, Ac... |
ORPHA:51 |
Retinitis Pigmentosa 74 |
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Polydactyly |
OMIM:616562 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Respiratory distress, Intestinal malrotation, Pulmonic stenosis, Oligohydramnios |
ORPHA:2255 |
Mowat-Wilson Syndrome |
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Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ... |
OMIM:235730 |
Alström Syndrome |
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Respiratory distress, Abnormality of dental color, Dorsocervical fat pad, Portal hypertension, Co... |
ORPHA:64 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Polydactyly, Abnormal digit morphology, Hypotension, Median cleft lip and palate |
ORPHA:95494 |
Atrial Fibrillation, Familial, 9 |
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Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
Familial Short Qt Syndrome |
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Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Short Qt Syndrome 3 |
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Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |