| Cholesterol Pneumonia |
|
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia |
OMIM:215030 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... |
OMIM:617405 |
| Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Narrow chest, Respiratory insufficiency, Distal arthrogryposis, Arthrogryposis multiplex congenit... |
OMIM:208081 |
| Thoracopelvic Dysostosis |
|
Neonatal respiratory distress, Short ribs |
OMIM:187770 |
| Nemaline Myopathy 9 |
|
Narrow chest, High palate, Cleft palate, Micrognathia, Respiratory insufficiency, Arthrogryposis ... |
OMIM:615731 |
| Metatropic Dysplasia |
|
Halberd-shaped pelvis, Cone-shaped epiphysis, Hyperplasia of the femoral trochanters, Flared hume... |
OMIM:156530 |
| Cyanosis And Hepatic Disease |
|
Dyspnea, Cyanosis |
OMIM:219400 |
| Apnea, Central Sleep |
|
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration |
OMIM:207720 |
| Thanatophoric Dysplasia, Type Ii |
|
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... |
OMIM:187601 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Enlarged thorax, Cleft palate, Abnormal vertebral segmentation and fusion, ... |
ORPHA:66637 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Bell-shaped thorax, Short ribs |
OMIM:187750 |
| Achondrogenesis Type 2 |
|
Narrow chest, Abnormal bone ossification, Delayed proximal femoral epiphyseal ossification, Short... |
ORPHA:93296 |
| Dysosteosclerosis |
|
High palate, Short sternum, Osteopenia, Delayed eruption of teeth, Sclerotic scapulae, Broad ribs... |
OMIM:224300 |
| Hyperparathyroidism, Transient Neonatal |
|
Narrow chest, Respiratory distress, Thin ribs, Short ribs, Femoral bowing, Osteopenia |
OMIM:618188 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Coxa vara, Metaphyseal dysplasia, Metaphyseal irregularity, Flexion contracture, Short ribs, Abno... |
OMIM:613330 |
| Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Short ribs, Micrognathia, Flared metaphysis, Micromelia, G... |
OMIM:215045 |
| Achondrogenesis, Type Ii |
|
Cleft palate, Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral ... |
OMIM:200610 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Sternum, Premature Obliteration Of Sutures Of |
|
Premature sternal synostosis, Micrognathia, Short sternum |
OMIM:184800 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Cleft palate, Aspiration pneumonia, Micrognathia, Upper airway obstruction,... |
ORPHA:141152 |
| Achondrogenesis, Type Ib |
|
Narrow chest, Short ribs, Hypoplastic ilia, Respiratory insufficiency, Micromelia, Absent or mini... |
OMIM:600972 |
| Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Narrow chest, Short ribs, Respiratory insufficiency, Limb undergrowth, Respiratory failure, Thora... |
OMIM:273730 |
| Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Short sternum, Supernumerary tooth, Bifid tongue, Bifid uvula, Microdontia, Pos... |
OMIM:258850 |
| Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasia, Narrow great... |
ORPHA:168549 |
| Thoracomelic Dysplasia |
|
Short ribs, Bell-shaped thorax |
OMIM:273740 |
| Parana Hard-Skin Syndrome |
|
Respiratory insufficiency, Restricted chest movement |
OMIM:260530 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, High palate, Hip contracture, Ankle flexion contracture, Short ribs, Respir... |
ORPHA:1145 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Narrow chest, Short ribs, Metaphyseal widening, Death in childhood, Brachydactyly, Limb undergrow... |
OMIM:618961 |
| Gordon Syndrome |
|
High palate, Clinodactyly of the 5th finger, Pectus excavatum, Cleft palate, Camptodactyly of fin... |
ORPHA:376 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Narrow chest, Respiratory distress, Short ribs, Hypoplasia of the radius, Hypoplastic ilia, Posta... |
OMIM:617895 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Cleft palate, Micrognathia, Hypoplastic distal segments of scapulae, Abnormal r... |
OMIM:602196 |
| Lethal Congenital Contracture Syndrome 3 |
|
Respiratory insufficiency, Neonatal death |
OMIM:611369 |
| Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| Kyphomelic Dysplasia |
|
Narrow chest, Joint stiffness, Undulate ribs, Micrognathia, Anterior rib cupping, Micromelia, Sho... |
ORPHA:1801 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Tracheopathia Osteoplastica |
|
Dyspnea, Wheezing, Recurrent pneumonia, Cough |
OMIM:189961 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
| Thoracomelic Dysplasia |
|
Narrow chest, Short ribs, Bell-shaped thorax, Abnormality of fibula morphology, Limb undergrowth,... |
ORPHA:1803 |
| Cataract-Hypertrichosis-Intellectual Disability Syndrome |
|
Abnormal palate morphology, Pectus excavatum, Microdontia |
ORPHA:1375 |
| Myasthenic Syndrome, Congenital, 8 |
|
Narrow chest, Respiratory insufficiency, High palate |
OMIM:615120 |
| Fibrochondrogenesis |
|
Narrow chest, Wide anterior fontanel, Narrow mouth, Cleft palate, Short ribs, Camptodactyly of fi... |
ORPHA:2021 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notc... |
OMIM:602557 |
| Pallister-Hall-Like Syndrome |
|
Cleft palate, Short ribs, Micrognathia, Micromelia, Postaxial hand polydactyly, Death in infancy,... |
OMIM:241800 |
| Schneckenbecken Dysplasia |
|
Narrow chest, Metaphyseal irregularity, Advanced ossification of carpal bones, Short long bone, S... |
OMIM:269250 |
| Phosphoserine Aminotransferase Deficiency |
|
Apnea, Death in infancy, Cyanotic episode |
OMIM:610992 |
| Catel-Manzke Syndrome |
|
Joint stiffness, Clinodactyly of the 5th finger, Pectus excavatum, Radial deviation of the 2nd fi... |
ORPHA:1388 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
High palate, Respiratory distress, Pectus excavatum, Cleft palate, Camptodactyly of finger, Respi... |
OMIM:614399 |
| Renal Dysplasia-Limb Defects Syndrome |
|
Aplasia of the ulna, High palate, Narrow mouth, Respiratory distress, Short sternum, Short metaca... |
OMIM:266910 |
| Lethal Recessive Chondrodysplasia |
|
Narrow chest, Respiratory distress, Macroglossia, Micrognathia, Micromelia, Limb undergrowth, Gen... |
ORPHA:1423 |
| Pierre Robin Syndrome |
|
Cleft palate, Glossoptosis, Micrognathia, Upper airway obstruction, Neonatal respiratory distress... |
OMIM:261800 |
| Fibrochondrogenesis 1 |
|
Cleft palate, Rhizomelia, Dumbbell-shaped long bone, Posterior rib cupping, Short long bone, Thor... |
OMIM:228520 |
| Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
|
Respiratory insufficiency, Scapular winging |
OMIM:617232 |
| Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Pectus excavatum, Pseudoarthrosis, Missing ribs, Short ribs |
OMIM:618155 |
| Perching Syndrome |
|
High palate, Respiratory distress, Flexion contracture, Camptodactyly |
OMIM:617055 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Pectus excavatum, Cleft palate, Glossoptosis, Micrognathia, Osteoarthritis, Long philtrum, Pectus... |
ORPHA:166100 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
| Orofaciodigital Syndrome Type 3 |
|
Pectus excavatum, Short sternum, Abnormality of the dentition, Bifid uvula, Lobulated tongue, Pos... |
ORPHA:2752 |
| Nemaline Myopathy 1 |
|
High palate, Respiratory insufficiency, Pectus excavatum, Flexion contracture |
OMIM:609284 |
| Multiple Synostoses Syndrome 1 |
|
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Short philtrum, Symphalangism affec... |
OMIM:186500 |
| Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Hypoplasia of the radius, Barrel-shaped chest, Micromelia, Severe limb shorte... |
OMIM:200600 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Narrow chest, Metaphyseal cupping, Severe limb shortening, Thin ribs, Short ribs, Decreased crani... |
OMIM:151210 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Gingival overgrowth, Micrognathia, Gingival fibromatosis, Median cleft lip ... |
ORPHA:1832 |
| Otopalatodigital Syndrome, Type Ii |
|
Pectus excavatum, Radial deviation of the 2nd finger, Cleft palate, Femoral bowing, Congenital hi... |
OMIM:304120 |
| Cleidocranial Dysplasia 1 |
|
High palate, Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Cleft pala... |
OMIM:119600 |
| Isolated Pierre Robin Syndrome |
|
Cleft palate, Glossoptosis, Micrognathia, Upper airway obstruction, Neonatal respiratory distress |
ORPHA:718 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Short long bone, Death in adolescence, Neonatal death, Camptodactyly, Bowin... |
OMIM:619751 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Cough, Tachypnea, Intercostal retractions, Reduced forced vital c... |
ORPHA:91359 |
| Fibrochondrogenesis 2 |
|
Metaphyseal cupping, Short ribs, Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplasti... |
OMIM:614524 |
| Three M Syndrome 1 |
|
Pectus excavatum, Clinodactyly of the 5th finger, Short ribs, Short 5th finger, Long philtrum, Sl... |
OMIM:273750 |
| Thoracolaryngopelvic Dysplasia |
|
Irregular chondrocostal junctions, Short ribs, Metaphyseal widening, Bell-shaped thorax, Narrow p... |
OMIM:187760 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the tongue, Arachnoda... |
ORPHA:2759 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Cough, Tachypnea, Respiratory failure |
OMIM:263000 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Narrow chest, Abnormality of femur morphology, Metaphyseal dysplasia, Short ribs, Respiratory ins... |
ORPHA:1842 |
| Thanatophoric Dysplasia, Type I |
|
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... |
OMIM:187600 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Sclerosis of skull base, Hyperextensibility of the finger joints, Respiratory in... |
OMIM:313420 |
| Hypophosphatasia, Infantile |
|
Bowing of the legs, Apnea, Metaphyseal cupping, Short ribs, Craniosynostosis, Abnormality of the ... |
OMIM:241500 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
High palate, Cleft palate, Short uvula, Micromelia, Microdontia, Bowing of the long bones, Short ... |
OMIM:614091 |
| Short Rib-Polydactyly Syndrome |
|
Cleft palate, Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Respiratory failure, S... |
ORPHA:1505 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Narrow chest, Metaphyseal cupping, Short ribs, Iliac crest serration, Micromelia, Bell-shaped tho... |
OMIM:613320 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Narrow chest, Bowing of the legs, Narrow mouth, Miscarriage, Limitation of joint mobility, Cleft ... |
ORPHA:1865 |
| Tarp Syndrome |
|
High palate, Pectus excavatum, Short sternum, Cleft palate, Postaxial polydactyly, Hypoplasia of ... |
OMIM:311900 |
| 16P11.2P12.2 Microduplication Syndrome |
|
Pectus excavatum, Cleft palate |
ORPHA:261204 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Abnormal sternum morphology, ... |
ORPHA:166016 |
| Arthrogryposis, Distal, Type 1C |
|
High palate, Hip contracture, Narrow mouth, Clinodactyly of the 5th finger, Metacarpophalangeal j... |
OMIM:619110 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
| Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Synd... |
OMIM:173800 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Cleft palate, Multiple rib fractures, Short femur, Short ribs, Microg... |
OMIM:616897 |
| Lethal Kniest-Like Dysplasia |
|
Narrow chest, Wide anterior fontanel, Hypoplastic vertebral bodies, Cleft palate, Short ribs, Hyp... |
ORPHA:2347 |
| Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
| Fibrodysplasia Ossificans Progressiva |
|
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Short 1st metacarpal, Meta... |
OMIM:135100 |
| Momo Syndrome |
|
High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Short sternum, Abnormal... |
ORPHA:2563 |
| Atelosteogenesis Type Ii |
|
Broad phalanx, Cleft palate, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbb... |
ORPHA:56304 |
| Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Death in childhood, Respiratory failure, Tongue fasciculations |
OMIM:253300 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Short ribs, Brachydactyly, B... |
OMIM:615630 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Pectus excavatum, Spindle-shaped finger, Triangular mouth, Cutan... |
ORPHA:166024 |
| Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Cleft palate, Hand oligodactyly, Glo... |
ORPHA:3104 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Van Den Ende-Gupta Syndrome |
|
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Femoral bowing, Tapered finger, Gl... |
OMIM:600920 |
| Growth Delay Due To Insulin-Like Growth Factor I Resistance |
|
Pectus excavatum, Everted lower lip vermilion, Thin vermilion border, Clinodactyly, Short palm, S... |
ORPHA:73273 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Kyphoscoliosi... |
ORPHA:93316 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Narrow chest, Advanced ossification of carpal bones, Limitation of joint mobility, Joint contract... |
OMIM:224400 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Pectus excavatum, Brachydactyly, Arthritis |
ORPHA:1937 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow chest, Anal atresia, Microretrognathia, Cleft palate, Short ribs, Postaxial polydactyly, P... |
OMIM:616300 |
| Ellis-Van Creveld Syndrome |
|
Narrow chest, Acetabular spurs, Cleft upper lip, Abnormality of the alveolar ridges, Hypodontia, ... |
OMIM:225500 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Pectus excavatum, Dentinogenesis imperfecta, Decreased calvarial ossificatio... |
OMIM:259440 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Torus palatinus, Clavicular sclerosis, Abnormal form of the vertebral ... |
ORPHA:2790 |
| Acropectoral Syndrome |
|
Pectus excavatum, Preaxial polydactyly, Partial duplication of thumb phalanx, Pectus carinatum, T... |
OMIM:605967 |
| Neuralgic Amyotrophy |
|
Sprengel anomaly, Narrow mouth, Cleft palate, Respiratory insufficiency, Scapular winging |
ORPHA:2901 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
High palate, Micrognathia, Neonatal death, Respiratory failure, Arthrogryposis multiplex congenit... |
OMIM:611890 |
| Parana Hard Skin Syndrome |
|
Restricted chest movement, Respiratory insufficiency, Tapered finger, Pectus carinatum |
ORPHA:2812 |
| Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Short hallux, Oligodontia of primary teeth, Sandal gap, Cleft soft palate |
OMIM:216300 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Micromelia, Delayed eru... |
OMIM:184260 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, 2-3 toe syndactyly, Short ribs, Postaxial polydactyly, Micrognathia, Preaxial poly... |
OMIM:617866 |
| Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Short distal phalanx of the thumb, Partial duplication of the distal phalanx of the hallux, Bifid... |
OMIM:256200 |
| Hyperekplexia 4 |
|
High palate, Flexion contracture, Adducted thumb, Camptodactyly, Distal arthrogryposis, Respirato... |
OMIM:618011 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Death in infancy, Cleft palate |
OMIM:258320 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Partial duplication of the distal phalanx of the hallux, Bifid uvula, Broad hallux, Abnormal thum... |
ORPHA:2669 |
| Odontochondrodysplasia |
|
Narrow chest, Respiratory distress, Dentinogenesis imperfecta, Cone-shaped epiphysis, Micromelia,... |
ORPHA:166272 |
| Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Pectus excavatum, High, narrow palate, Cleft palate, Camptodactyl... |
ORPHA:957 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Short digit, Hypoplasia of the ulna, Short l... |
OMIM:613091 |
| Prieto Syndrome |
|
Abnormality of the dentition, 11 pairs of ribs, Osteoporosis, Clinodactyly, Radial deviation of f... |
OMIM:309610 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Tongue fasciculations, Respiratory failure, Hypoplasia of the capital femoral epiphysis, Joint la... |
OMIM:600561 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Cleft palate, Hyperextensibility of the finger joints, Glossoptosis, Respiratory insufficiency, 1... |
OMIM:618356 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea |
OMIM:611722 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Cyanosis, Crackles, Wheezing, Pneumothorax, Cough, Res... |
ORPHA:1302 |
| Seckel Syndrome 4 |
|
11 pairs of ribs, Steep acetabular roof |
OMIM:613676 |
| Momo Syndrome |
|
High palate, Dental malocclusion, Taurodontia, Short sternum, Long philtrum, Delayed eruption of ... |
OMIM:157980 |
| Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Respiratory insufficiency, Camptodactyly of finger, Missing ribs, Duodena... |
ORPHA:1759 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
High palate, Broad phalanx, Pectus excavatum, Micromelia, Hip subluxation, Posterior rib cupping,... |
OMIM:271665 |
| Laryngotracheoesophageal Cleft |
|
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor |
ORPHA:2004 |
| Meier-Gorlin Syndrome 1 |
|
High palate, Respiratory distress, Cleft palate, Absent glenoid fossa, Microdontia, Pectus carina... |
OMIM:224690 |
| Cranioectodermal Dysplasia |
|
Narrow chest, Short distal phalanx of finger, Abnormal dental enamel morphology, Pectus excavatum... |
ORPHA:1515 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Flexion contracture, Micrognathia, Congenital hip dislocation, Overlapping fingers, Arthrogryposi... |
OMIM:618291 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Rib fusion, Abnormal rib morphology, Short thorax, Missing ribs, Restrictive ventilatory defect, ... |
OMIM:613686 |
| Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Barrel-shaped chest, 11 pairs of ribs, Micromelia, Rhizomel... |
OMIM:215140 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2 |
|
Thoracic scoliosis, Bilateral cleft lip, Pectus excavatum, Shield chest |
OMIM:616994 |
| Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Acrocapitofemoral Dysplasia |
|
Narrow chest, Cone-shaped metacarpal epiphyses, Coxa vara, Pectus excavatum, Abnormal femoral nec... |
ORPHA:63446 |
| Kniest-Like Dysplasia, Lethal |
|
Narrow chest, Metaphyseal irregularity, Wide anterior fontanel, Hypoplastic vertebral bodies, Nar... |
OMIM:245190 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Hyperoxemia, Abnormal respiratory system physiology, Chronic lung disease, ... |
ORPHA:70589 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Abnormal sternum morphology, Short ribs, Abnormal rib morphology, Postaxial... |
ORPHA:2519 |
| Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
High palate, Pectus excavatum, Joint laxity |
OMIM:619548 |
| X-Linked Intellectual Disability, Abidi Type |
|
Pectus excavatum, Cleft palate, Non-midline cleft lip |
ORPHA:85273 |
| Intermediate Nemaline Myopathy |
|
High, narrow palate, Flexion contracture, Long philtrum, Abnormal thorax morphology, Arthrogrypos... |
ORPHA:171433 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Anodontia, Pectus excavatum, Everted lower lip vermilion, Oligodontia, Tapered finger, Pectus car... |
ORPHA:276630 |
| Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Metaphyseal irregularity, Irregular chondrocostal junctions, Broad phalanx, Metaphyseal dysplasia... |
OMIM:250420 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Apnea, Cyanosis, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dysp... |
OMIM:265120 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Limited knee flexion/extension, Respiratory insufficiency, Limited elbow ... |
ORPHA:266 |
| Pyknoachondrogenesis |
|
Enlarged thorax, Sclerosis of skull base, Abnormal iliac wing morphology, Short ribs, Micromelia,... |
ORPHA:3003 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Pectus excavatum, Metaphyseal spurs, Dysplastic iliac wing, Short long bone, ... |
OMIM:608728 |
| Scarf Syndrome |
|
Short sternum, Craniosynostosis, Long philtrum, Pectus carinatum, Enamel hypoplasia, Hypocalcific... |
ORPHA:3134 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Micrognathia, Respiratory insufficiency, Syndactyly, Neonatal death, Hypoplasia of the ulna, Meso... |
OMIM:228940 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Cleft palate, Decreased calvarial ossification, Long thorax, Short long bone, Anal atresia, Narro... |
OMIM:617925 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Thin upper lip vermilion, Pectus excavatum |
OMIM:609384 |
| Pectus Excavatum |
|
Pectus excavatum |
OMIM:169300 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
High palate, Respiratory distress, Pectus excavatum, Flexion contracture, Arachnodactyly, Osteope... |
OMIM:271225 |
| Van Der Woude Syndrome 2 |
|
Cleft upper lip, Anodontia, Cleft palate |
OMIM:606713 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Respiratory insufficiency, Respiratory failure, Flexion contracture |
OMIM:613869 |
| Marshall-Smith Syndrome |
|
High palate, Apnea, Airway obstruction, Pectus excavatum, Short sternum, Slender finger, Prominen... |
OMIM:602535 |
| Faciothoracogenital Syndrome |
|
Pectus excavatum, Micrognathia, Long philtrum, Thin upper lip vermilion, Smooth philtrum |
OMIM:227320 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Pectus excavatum, Abnormality of the dentition, Carious teeth, Radioulnar synostosis, Abnormal pa... |
ORPHA:3270 |
| Tarp Syndrome |
|
Alveolar ridge overgrowth, Hypoplasia of proximal radius, Apnea, Pectus excavatum, Short sternum,... |
ORPHA:2886 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:618328 |
| Short Stature And Facioauriculothoracic Malformations |
|
Cleft upper lip, High palate, Pectus excavatum, Cleft palate, Pectus carinatum, Cervical ribs |
OMIM:609654 |
| Cleft Palate-Large Ears-Small Head Syndrome |
|
Short distal phalanx of finger, Gingival overgrowth, Pectus excavatum, Cleft palate, Micrognathia... |
ORPHA:2013 |
| Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Short clavicles, Short ribs, Short humerus, Short femoral neck, Rhizomelia, Broad ribs, Prominent... |
OMIM:610319 |
| Au-Kline Syndrome |
|
High palate, Overlapping toe, Pectus excavatum, Cleft palate, Postaxial polydactyly, Craniosynost... |
OMIM:616580 |
| Cooper-Jabs Syndrome |
|
Abnormal hip bone morphology, Reduced bone mineral density, Camptodactyly of finger, Respiratory ... |
ORPHA:1488 |
| Heyn-Sproul-Jackson Syndrome |
|
Broad metacarpals, Broad phalanx, 11 pairs of ribs, Short phalanx of finger, Short metacarpal |
OMIM:618724 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Narrow chest, Short ribs, Brachydactyly, Polydactyly, Short long bone |
OMIM:613819 |
| Chromosome 3Q29 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Pectus excavatum, Short philtrum, Tapered finger, Long fingers, P... |
OMIM:609425 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Slender finger, Increased laxity of fingers, Adducted thumb, Flexion contracture, Micrognathia, H... |
ORPHA:75840 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Short toe, Pectus excavatum, Prominent sternum, Clinodactyly of the 5th finger, Ever... |
OMIM:617877 |
| Nemaline Myopathy 11, Autosomal Recessive |
|
High palate, Scapular winging, Pectus excavatum, Reduced vital capacity |
OMIM:617336 |
| Arthrogryposis, Distal, Type 3 |
|
High palate, Overlapping toe, Decreased hip abduction, Pectus excavatum, Abnormal rib cage morpho... |
OMIM:114300 |
| Ulbright-Hodes Syndrome |
|
Aplasia/Hypoplasia of the ulna, High palate, Respiratory distress, Short sternum, Hypoplasia of t... |
ORPHA:3404 |
| X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
High palate, Pectus excavatum, Short philtrum, Tapered finger, Downturned corners of mouth |
ORPHA:85280 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Narrow chest, Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Later... |
OMIM:208500 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Non-Distal Trisomy 10Q |
|
High palate, Pectus excavatum, Everted lower lip vermilion, Micrognathia, Joint hyperflexibility |
ORPHA:1695 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Incomplete cleft of the upper lip, Pectus excavatum, Intestinal malrotation, Micrognathia, Oral c... |
ORPHA:77300 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit |
OMIM:119300 |
| Cree Mental Retardation Syndrome |
|
Pectus excavatum, Micrognathia, Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Cutaneous fin... |
OMIM:606851 |
| Turnpenny-Fry Syndrome |
|
High palate, Pectus excavatum, Short sternum, Abnormality of the dentition, Microdontia, Pectus c... |
OMIM:618371 |
| Mucopolysaccharidosis, Type Ix |
|
Finger joint hypermobility, Bifid uvula, Lumbar scoliosis, Submucous cleft hard palate, Hyperexte... |
OMIM:601492 |
| Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Pectus excavatum, Decreased calvarial ossification, Pectus carinatum, Bowing of limbs due to mult... |
OMIM:259410 |
| Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hip contracture, Clinodactyly of the 5th finger, Metaphyseal cupping, Tooth malposition, Short ri... |
OMIM:156400 |
| Pelvis-Shoulder Dysplasia |
|
Cleft palate, Absent proximal finger flexion creases, Micrognathia, Aplasia/Hypoplasia of the fib... |
ORPHA:2839 |
| Desbuquois Dysplasia 2 |
|
Pectus excavatum, Cleft palate, Cutaneous syndactyly, Monkey wrench femoral neck, Pectus carinatu... |
OMIM:615777 |
| Jeune Syndrome |
|
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Cone-shaped epiphysis, R... |
ORPHA:474 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Respiratory failure, Flexion contracture |
OMIM:616081 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Pectus excavatum, Restrictive ventilatory defect, Knee flexion contracture, Scap... |
OMIM:615290 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Pectus excavatum, Flat capital femoral epiphysis, Cleft palate... |
OMIM:601560 |
| Short-Rib Thoracic Dysplasia 12 |
|
Lobulated tongue, Median cleft lip and palate, Short long bone, Short ribs, Bowing of the arm, Hy... |
OMIM:269860 |
| Blomstrand Lethal Chondrodysplasia |
|
Narrow chest, Distal shortening of limbs, Metaphyseal cupping, Increased bone mineral density, Sh... |
ORPHA:50945 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Cleft palate, Posterior rib fusion, Abnormal rib morphology, Short thorax, Missing ribs |
ORPHA:1797 |
| Marfanoid Hypermobility Syndrome |
|
High palate, Pectus excavatum, High, narrow palate, Arachnodactyly, Pectus carinatum, Joint hyper... |
OMIM:154750 |
| Scarf Syndrome |
|
Short sternum, Coronal craniosynostosis, Barrel-shaped chest, Long philtrum, Pectus carinatum, En... |
OMIM:312830 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Narrow chest, Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand,... |
OMIM:617102 |
| Schneckenbecken Dysplasia |
|
Narrow chest, Hypoplastic vertebral bodies, Cleft palate, Short ribs, Increased fibular diameter,... |
ORPHA:3144 |
| Myasthenic Syndrome, Congenital, 19 |
|
High palate, Micrognathia, Respiratory insufficiency, Pectus carinatum, Distal joint laxity |
OMIM:616720 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Decreased DLCO, Cough, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Dyspnea |
OMIM:610910 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... |
ORPHA:1303 |
| Intellectual Developmental Disorder, X-Linked 90 |
|
Narrow chest, Bifid uvula, High palate |
OMIM:300850 |
| Craniofrontonasal Dysplasia |
|
Sprengel anomaly, High palate, Abnormal clavicle morphology, Pectus excavatum, Clinodactyly of th... |
ORPHA:1520 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Bowing of the legs, Pectus excavatum, Limited elbow extension, Limb undergrowth, Thoracic hypoplasia |
ORPHA:156728 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
High palate, Respiratory distress, Micrognathia, Death in infancy, Neonatal respiratory distress,... |
OMIM:615042 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Wide mouth, Pectus excavatum, Small hand, Broad finger, Short phalanx of finger, Pectus carinatum... |
OMIM:614684 |
| Cornelia De Lange Syndrome 1 |
|
High palate, Malrotation of colon, Short sternum, Hiatus hernia, Cleft palate, Hypoplasia of the ... |
OMIM:122470 |
| Osteogenesis Imperfecta, Type Xix |
|
Recurrent fractures, Pectus excavatum, Osteopenia, Pectus carinatum, Rhizomelia |
OMIM:301014 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
High palate, Pectus excavatum, Respiratory insufficiency due to muscle weakness |
OMIM:617066 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Respiratory failure requir... |
ORPHA:264675 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
High palate, Overlapping toe, Wide anterior fontanel, Narrow mouth, Micrognathia, Short tibia, Sh... |
OMIM:201170 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Anencephaly 2 |
|
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla |
OMIM:619452 |
| Radio-Renal Syndrome |
|
Respiratory distress, High, narrow palate, Chylothorax, Hypoplasia of the radius, Micrognathia, M... |
ORPHA:3015 |
| Zimmermann-Laband Syndrome 3 |
|
High palate, Short distal phalanx of finger, Gingival overgrowth, Long hallux, Absent distal phal... |
OMIM:618658 |
| Meier-Gorlin Syndrome 3 |
|
Narrow chest, Coxa vara, Narrow mouth, Microretrognathia, Short ribs, Tracheomalacia, Micrognathi... |
OMIM:613803 |
| Mucolipidosis Iii Alpha/Beta |
|
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Short ribs, Craniosynosto... |
OMIM:252600 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Pectus excavatum, Postaxial polydactyly, Adducted thumb, Overlapp... |
OMIM:618167 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Narrow chest, Lateral clavicle hook, Cleft palate, Short ribs, Intestinal malrotation, Preaxial h... |
OMIM:263520 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Cleft palate, Tracheomalacia, Micrognathia, Respiratory insufficiency, Abse... |
OMIM:608022 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
High palate, Clinodactyly of the 5th finger, Pectus excavatum, Craniosynostosis, Brachydactyly, S... |
OMIM:619451 |
| Monosodium Glutamate Sensitivity |
|
Dyspnea, Flushing |
OMIM:231630 |
| Metatropic Dysplasia |
|
Joint stiffness, Kyphosis, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Coarse metaphys... |
ORPHA:2635 |
| Pleural Mesothelioma |
|
Respiratory distress, Cough, Abnormal thorax morphology, Pleural effusion, Dyspnea, Abnormal resp... |
ORPHA:50251 |
| Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pectus excavatum, Micrognathia, Unilateral cleft palate, Unilateral cleft lip, Joint hypermobilit... |
OMIM:619122 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Wide mouth, Micrognathia, Widely spaced teeth, Clinodactyly |
OMIM:300934 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Postaxial polydactyly, Respiratory insufficiency, Brachydactyly, Bell-shaped thorax... |
OMIM:615633 |
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Hip contracture, Pursed lips, Adducted thumb, Micrognathia, Respiratory insufficiency, 11 pairs o... |
OMIM:616266 |
| Arthrogryposis, Distal, Type 5 |
|
High palate, Pectus excavatum, Abnormal rib cage morphology, Arachnodactyly, Limited wrist extens... |
OMIM:108145 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary... |
ORPHA:2414 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Nonspecific interstitial pneumonia, Cyanosis, Neonatal death, Tachyp... |
OMIM:610921 |
| Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy, Flexion contracture |
OMIM:615348 |
| Kniest Dysplasia |
|
Respiratory distress, Delayed epiphyseal ossification, Tibial bowing, Pectus excavatum, Coxa vara... |
OMIM:156550 |
| Cdags Syndrome |
|
Anal atresia, Short clavicles, Cleft palate, Short ribs, Coronal craniosynostosis, Sagittal crani... |
OMIM:603116 |
| Opsismodysplasia |
|
Narrow chest, Joint stiffness, Pectus excavatum, Hypoplastic vertebral bodies, Abnormally ossifie... |
ORPHA:2746 |
| Laryngeal Abductor Paralysis |
|
Cyanosis, Stridor |
OMIM:150260 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ... |
OMIM:300863 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
High palate, Pectus excavatum |
OMIM:251750 |
| Orofacial Cleft 1 |
|
Cleft upper lip, Cleft palate |
OMIM:119530 |
| Orofacial Cleft 5 |
|
Cleft upper lip, Cleft palate |
OMIM:608874 |
| Orofacial Cleft 6, Susceptibility To |
|
Cleft upper lip, Cleft palate |
OMIM:608864 |
| Laryngeal Web, Familial |
|
Respiratory distress, Stridor |
OMIM:150360 |
| Renpenning Syndrome |
|
Sprengel anomaly, Anal atresia, Narrow mouth, Clinodactyly of the 5th finger, Pectus excavatum, H... |
ORPHA:3242 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Short ribs, Postaxial polydactyly, Femoral bowing, Preaxial polyd... |
OMIM:615503 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dyspnea, Respira... |
ORPHA:90117 |
| Myotubular Myopathy With Abnormal Genital Development |
|
High palate, Respiratory distress, Thin ribs, Neonatal death, Death in infancy, Joint hypermobility |
OMIM:300219 |
| Spondylocostal Dysostosis 5 |
|
Posterior rib fusion, Pectus carinatum, Missing ribs, Supernumerary ribs, Vertebral fusion |
OMIM:122600 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Coxa vara, Cleft palate, Pierre-Robin sequence, Delayed calcaneal ossificat... |
OMIM:183900 |
| Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Narrow chest, Dens in dente, Clinodactyly of the 5th finger, Pectus excavatum, 2-3 toe syndactyly... |
OMIM:263540 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Apnea, Abnormal 5th metacarpal morphology, Cone-shaped epiphysis, Rhizomelic arm shortening, Twel... |
ORPHA:397715 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Hip contracture, Flexion ... |
ORPHA:1143 |
| Chitayat Syndrome |
|
Respiratory distress, Pectus excavatum, Tracheomalacia, Brachydactyly, Hallux valgus, Thick vermi... |
OMIM:617180 |
| Braddock Syndrome |
|
Pectus excavatum, Micrognathia, Missing ribs, Neonatal respiratory distress, Pulmonary arterial h... |
ORPHA:52047 |
| Orofaciodigital Syndrome Iv |
|
High palate, Accessory oral frenulum, Pectus excavatum, Cleft palate, Postaxial polydactyly, Micr... |
OMIM:258860 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Respiratory insufficiency, Neonatal death, Split hand, Respiratory failure |
OMIM:610127 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Cleft upper lip, Short clavicles, Finger syndactyly, Flexion contracture, Short ribs, Absent midd... |
OMIM:308050 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Cleft palate, Club-shaped prox... |
OMIM:184250 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Osteopenia, Platyspondyly, Delayed eruption of teeth, Tapered finger, Flat capital f... |
OMIM:612350 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Thick upper lip vermilion, Wide mouth, Enlarged thorax, Pectus excavatum, Limited pronation/supin... |
ORPHA:163654 |
| Cranioectodermal Dysplasia 4 |
|
Narrow chest, Short distal phalanx of finger, Pectus excavatum, Taurodontia, Cutaneous finger syn... |
OMIM:614378 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pectus excavatum, Fibular hypoplasia, Pseudoarthrosis, Pathologic fracture |
OMIM:607278 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Cone-shaped epiphyses of the phalanges of the hand, 11 pairs of ribs, Rhizomelia, Short long bone... |
OMIM:250220 |
| Arthrogryposis Multiplex Congenita 6 |
|
Adducted thumb, Death in childhood, Neonatal death, Death in infancy, Arthrogryposis multiplex co... |
OMIM:619334 |
| Asbestos Intoxication |
|
Oxygen desaturation on exertion, Reduced vital capacity, Nonproductive cough, Cyanosis, Reduced f... |
ORPHA:2302 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... |
OMIM:600081 |
| Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
High palate, Clinodactyly of the 5th finger, Cleft palate, Micrognathia, Abnormality of the denti... |
ORPHA:576283 |
| Congenital Velopharyngeal Incompetence |
|
Abnormal palate morphology, Velopharyngeal insufficiency |
ORPHA:2291 |
| Orofaciodigital Syndrome Type 5 |
|
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... |
ORPHA:2919 |
| Seckel Syndrome 5 |
|
High palate, Clinodactyly of the 5th finger, Hypodontia, Micrognathia, Oligodontia, 11 pairs of r... |
OMIM:613823 |
| Hallermann-Streiff Syndrome |
|
Recurrent fractures, Abnormality of the tongue, Clinodactyly of the 5th finger, Narrow mouth, Hig... |
ORPHA:2108 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal s... |
OMIM:144750 |
| Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
| Brachyolmia, Maroteaux Type |
|
Pectus excavatum, Short thorax |
ORPHA:93302 |
| Hypoglossia With Situs Inversus |
|
High palate, Respiratory distress, Narrow mouth, Hypodontia, Micrognathia, Upper airway obstructi... |
OMIM:612776 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
| Camptodactyly Syndrome, Guadalajara Type 2 |
|
Pectus excavatum, Camptodactyly of finger, Short 3rd toe, Hip dislocation, Patellar hypoplasia, S... |
ORPHA:1326 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Short toe, Pectus excavatum, Short phalanx of finger, Tapered finger, Long fingers, Camptodactyly... |
OMIM:613458 |
| Mitral Valve Prolapse 1 |
|
High palate, Pectus excavatum, High, narrow palate |
OMIM:157700 |
| Vacterl Association With Hydrocephalus |
|
Anal atresia, Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Sti... |
OMIM:276950 |
| Adducted Thumbs Syndrome |
|
High palate, Velopharyngeal insufficiency, High, narrow palate, Cleft palate, Craniosynostosis, R... |
OMIM:201550 |
| Distal Trisomy 15Q |
|
High palate, Anal atresia, Joint stiffness, Pectus excavatum, Arachnodactyly, Micrognathia, Campt... |
ORPHA:1707 |
| Donnai-Barrow Syndrome |
|
Intestinal malrotation, Wide anterior fontanel, Short sternum |
OMIM:222448 |
| Campomelic Dysplasia |
|
Narrow chest, Poorly ossified cervical vertebrae, Small abnormally formed scapulae, Tibial bowing... |
ORPHA:140 |
| Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Coronal cleft vertebrae, Cleft palate, Bifid humerus, Horizontal sacrum, In... |
OMIM:256050 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency, Tongue fasciculations |
ORPHA:238329 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Overlapping toe, Pectus excavatum, Prominent sternum, Flexion contracture of finger, Macroglossia... |
ORPHA:254528 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress |
OMIM:615595 |
| Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Pectus excavatum, Massively thickened long bone cortices, Brachydactyly, Micromelia, Limb undergr... |
OMIM:122900 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Pectus excavatum, Miscarriage, Prominent sternum, Absent glenoid fo... |
ORPHA:96334 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Pectus excavatum, Carpal synostosis,... |
OMIM:615349 |
| Holt-Oram Syndrome |
|
Sprengel anomaly, Joint stiffness, Abnormal clavicle morphology, Pectus excavatum, Absent thumb, ... |
ORPHA:392 |
| Hypophosphatasia |
|
Narrow chest, Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Respiratory in... |
ORPHA:436 |
| Basal Cell Nevus Syndrome |
|
Sprengel anomaly, Bifid ribs, Short distal phalanx of the thumb, Abnormal sternum morphology, Cle... |
OMIM:109400 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Pectus excavatum, Abnormal hip bone morphology, Micrognathia, Abnor... |
ORPHA:2522 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring |
ORPHA:70587 |
| Nail-Patella Syndrome |
|
Cleft upper lip, Pectus excavatum, Clinodactyly of the 5th finger, Disproportionate prominence of... |
OMIM:161200 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Congenital contracture, Respiratory failure, Death in infancy |
OMIM:225753 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Camptodactyly of finger, Bifid uvula, Cleft palate, Submucous cleft hard palate |
ORPHA:2521 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Narrow chest, Respiratory distress, Short clavicles, Accessory oral frenulum, Supernumerary tooth... |
OMIM:617088 |
| Lujan-Fryns Syndrome |
|
High palate, Pectus excavatum, Arachnodactyly, Micrognathia, Camptodactyly of finger, Abnormality... |
ORPHA:776 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Cleft palate, Hip dysplasia, Aplasia/hypoplasia involving bones of the ex... |
ORPHA:1856 |
| Otopalatodigital Syndrome, Type I |
|
Pectus excavatum, Cleft palate, Short 3rd metacarpal, Broad hallux, Sandal gap, Broad distal phal... |
OMIM:311300 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft upper lip, Cervical C2/C3 vertebral fusion, Cleft palate, Short neck, Scoliosis, Fused cerv... |
OMIM:214300 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Multiple joint contractures, Respiratory insufficiency, Respiratory failure, Hip dislocation, Abn... |
ORPHA:370968 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Cyanosis, Respiratory insufficiency, In... |
OMIM:610913 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Wide mouth, Pectus excavatum, Rhizo-meso-acromelic limb shortening, Small epiphyses, Thoracic hyp... |
OMIM:611717 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
High palate, Gingival overgrowth, Clinodactyly of the 5th finger, Pectus excavatum, Death in chil... |
OMIM:619422 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Joint stiffness, Hypodontia, Cleft palate, Joint hypermobility, Oligodontia, Bra... |
OMIM:619184 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short femur, Hypoplasia of the radius, Short ribs, Short tibia, Short humerus, Short philtrum, Rh... |
OMIM:607143 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... |
OMIM:601376 |
| Camptodactyly Syndrome, Guadalajara, Type Ii |
|
Pectus excavatum, Micrognathia, Camptodactyly of finger, Osteopenia, Brachydactyly, Long philtrum... |
OMIM:211920 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Narrow chest, Short distal phalanx of finger, Short toe, Pectus excavatum, High palate, Dental ma... |
ORPHA:1327 |
| Diastrophic Dysplasia |
|
Joint stiffness, Abnormal clavicle morphology, Hypoplastic cervical vertebrae, Increased bone min... |
ORPHA:628 |
| Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Pectus excavatum, High, narrow palate, Flexion contracture, Adducted... |
ORPHA:536516 |
| Anauxetic Dysplasia 3 |
|
Narrow chest, Wide anterior fontanel, Pectus excavatum, Metaphyseal cupping, Femoral bowing, Trid... |
OMIM:618853 |
| Pectus Excavatum, Macrocephaly, Short Stature, And Dysplastic Nails |
|
Pectus excavatum |
OMIM:600399 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
High palate, Reduced vital capacity, Thoracic kyphoscoliosis, Orthopnea, Restrictive ventilatory ... |
ORPHA:98913 |
| Myopathy, Myofibrillar, 8 |
|
High palate, Dental malocclusion, Pectus excavatum, Reduced vital capacity, Micrognathia, Joint c... |
OMIM:617258 |
| Catel-Manzke Syndrome |
|
High palate, Cleft upper lip, Clinodactyly of the 5th finger, Pectus excavatum, Hyperphalangy of ... |
OMIM:616145 |
| Congenital Diaphragmatic Hernia |
|
Intestinal malrotation, Prominent sternum, Respiratory distress, Hypoxemia |
ORPHA:2140 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Wheezing, T... |
ORPHA:60032 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy |
OMIM:604377 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Angioedema, Erythema, Upper airway obstruction |
ORPHA:100057 |
| Aarskog-Scott Syndrome |
|
Cleft upper lip, Clinodactyly of the 5th finger, Pectus excavatum, Cleft palate, Everted lower li... |
ORPHA:915 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Flexion contracture, Cleft palate, Fused thoracic vertebrae, Short neck, Scoliosis, Fused cervica... |
OMIM:618469 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
High palate, Respiratory distress, Macroglossia, Respiratory failure requiring assisted ventilati... |
ORPHA:254864 |
| Cranioectodermal Dysplasia 1 |
|
High palate, Pectus excavatum, Microdontia, Rhizomelia, Sagittal craniosynostosis, Short distal p... |
OMIM:218330 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Noonan Syndrome 12 |
|
Proximal placement of thumb, Pectus excavatum, 11 pairs of ribs, Anteriorly placed anus |
OMIM:618624 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... |
OMIM:264700 |
| Growth Factors, Combined Defect Of |
|
Micrognathia, Narrow mouth, Pectus excavatum, Flexion contracture |
OMIM:233805 |
| Otospondylomegaepiphyseal Dysplasia |
|
Cleft palate, Abnormally ossified vertebrae, Short neck, Platyspondyly, Flared femoral metaphysis... |
ORPHA:1427 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
| Osteogenesis Imperfecta, Type Xxi |
|
Coxa vara, Bowing of the legs, Pectus excavatum, Recurrent fractures, Barrel-shaped chest, Bowing... |
OMIM:619131 |
| Ectrodactyly-Cleft Palate Syndrome |
|
Split hand, Cleft palate |
OMIM:129830 |
| Campomelic Dysplasia |
|
High palate, Respiratory distress, Apnea, Poorly ossified cervical vertebrae, Cleft palate, Femor... |
OMIM:114290 |
| Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Cleft palate, 11 pairs of ribs, Rhizomelia, Clubbing, Multinuclea... |
OMIM:108720 |
| Qazi-Markouizos Syndrome |
|
Pectus excavatum, Delayed ossification of carpal bones, High, narrow palate, Tapered finger, Open... |
ORPHA:3010 |
| Isolated Klippel-Feil Syndrome |
|
Ectopic anus, Anal atresia, Cervical C2/C3 vertebral fusion, Cleft palate, Abnormal vertebral seg... |
ORPHA:2345 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis |
OMIM:250800 |
| Familial Nasal Acilia |
|
Respiratory distress, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Dyspnea |
ORPHA:922 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Respiratory distress, Periostitis, Osteomyelitis, Osteopenia, Stomatitis, Fused cervical vertebra... |
OMIM:612852 |
| Tyshchenko Syndrome |
|
Narrow chest, High palate, Sleep apnea, Pectus excavatum, Narrow palate, High, narrow palate, Cle... |
OMIM:615102 |
| Cerebrocostomandibular Syndrome |
|
High palate, Calcaneal epiphyseal stippling, Clinodactyly of the 5th finger, Rib gap, Anomalous r... |
OMIM:117650 |
| Cole-Carpenter Syndrome 2 |
|
High palate, Pectus excavatum, Microretrognathia, Dentinogenesis imperfecta, Thin ribs, Coronal c... |
OMIM:616294 |
| Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Achilles tendon contracture |
OMIM:604801 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Micrognathia, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
| Auriculocondylar Syndrome 3 |
|
Glossoptosis, Micrognathia, Bifid uvula |
OMIM:615706 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Pectus excavatum, Micrognathia, Down-sloping shoulders, Microdontia, Camptodactyly, Widely spaced... |
OMIM:619694 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Short distal phalanx of finger, Tibial bowing, Sclerosis of skull base, Short sternum, Macrogloss... |
OMIM:269150 |
| Temple Syndrome |
|
High palate, Flexion contracture, Cleft palate, Small hand, Short philtrum, Scoliosis, Bifid uvul... |
OMIM:616222 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Pectus excavatum, Abnormality of finger, Large iliac wing, Cone-shaped epiphysis, Abnormality of ... |
ORPHA:2511 |
| Stickler Syndrome, Type Ii |
|
High, narrow palate, Cleft palate, Arachnodactyly, Micrognathia, Bifid uvula, Long fingers, Joint... |
OMIM:604841 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion, Cleft palate |
OMIM:221950 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Arachnodactyly, Pectus excavatum, High palate, Pectus carinatum |
OMIM:616166 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
High palate, Wide mouth, Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Os... |
OMIM:266920 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Wide mouth, High, narrow palate, Arachnodactyly, Micrognathia, Short philtr... |
ORPHA:2707 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue fasciculations, Respiratory failure, Tongue atrophy |
OMIM:613435 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Narrow mouth, Clinodactyly of the 5th finger, High, narrow palate, Cleft pa... |
ORPHA:2554 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
High palate, Pectus excavatum, Craniosynostosis, Pyloric stenosis, Thin upper lip vermilion |
ORPHA:314575 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Anal atresia, Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger,... |
ORPHA:1436 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... |
OMIM:600785 |
| Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Thin vermilion border, Long philtrum, Bifid uvula |
OMIM:615942 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Narrow chest, Cleft palate, Postaxial polydactyly, Short ribs, Preaxial polydactyly, Micromelia, ... |
OMIM:616546 |
| Moebius Syndrome |
|
High palate, Respiratory distress, Micrognathia, Abnormality of the dentition, Brachydactyly, Sho... |
OMIM:157900 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis |
OMIM:619466 |
| Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis, Bifid uvula, Everted lower lip vermilion |
OMIM:617768 |
| Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Short distal phalanx of finger, Short toe, Aplasia/Hypoplasia of the distal phalanges of the toes... |
ORPHA:3201 |
| Acrofacial Dysostosis 1, Nager Type |
|
Wide mouth, Absent thumb, Cleft palate, Hypoplasia of the radius, Radioulnar synostosis, Broad ha... |
OMIM:154400 |
| Trisomy X |
|
Clinodactyly of the 5th finger, Pectus excavatum, Hip dysplasia, Joint hyperflexibility |
ORPHA:3375 |
| Stickler Syndrome, Type I |
|
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Spondylolisthesis, Cleft palate, Arachnod... |
OMIM:108300 |
| Saul-Wilson Syndrome |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Wide anterior... |
OMIM:618150 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
High palate, Pectus excavatum, Chronic pulmonary obstruction, Arthritis, Spontaneous pneumothorax |
OMIM:619825 |
| Acrocraniofacial Dysostosis |
|
Pectus excavatum, Cleft palate, Craniosynostosis, Short 1st metacarpal, Micrognathia, Short philt... |
OMIM:201050 |
| Proximal Xq28 Duplication Syndrome |
|
Joint stiffness, Pectus excavatum, Tented upper lip vermilion, Everted lower lip vermilion |
ORPHA:1762 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
High palate, Multiple joint contractures, Pectus excavatum, Joint laxity, Respiratory insufficien... |
ORPHA:486815 |
| Distal Monosomy 7Q36 |
|
Wide mouth, Clinodactyly of the 5th finger, Pectus excavatum, Cleft palate, Micrognathia, Symphal... |
ORPHA:1636 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
High palate, Reduced vital capacity, Flexion contracture, Respiratory insufficiency, Bell-shaped ... |
ORPHA:178148 |
| You-Hoover-Fong Syndrome |
|
Pectus excavatum |
OMIM:616954 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Choanal Atresia |
|
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... |
ORPHA:137914 |
| Poland Syndrome |
|
Cone-shaped epiphysis, Abnormality of the humerus, Pectus carinatum, Sprengel anomaly, Short ribs... |
ORPHA:2911 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Narrow chest, Abnormal metaphysis morphology, Respiratory failure, Limb undergrowth |
ORPHA:1861 |
| Mohr Syndrome |
|
High palate, Pectus excavatum, Cleft palate, Lobulated tongue, Tongue nodules, Partial duplicatio... |
OMIM:252100 |
| Restrictive Dermopathy 2 |
|
Respiratory distress, Short clavicles, Microretrognathia, Rectal prolapse, Overtubulated long bones |
OMIM:619793 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Pectus excavatum, Microretrognathia, 2-3 toe syndactyly, Finger joint hypermobility, Monkey wrenc... |
OMIM:618870 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Pierre-Robin sequence, Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of t... |
OMIM:192445 |
| Frontoocular Syndrome |
|
High palate, Narrow mouth, Pectus excavatum, Narrow philtrum, Coronal craniosynostosis, Micrognathia |
OMIM:605321 |
| Severe Congenital Nemaline Myopathy |
|
Flexion contracture, Adducted thumb, Thin ribs, Abnormal thorax morphology, Arthrogryposis multip... |
ORPHA:171430 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... |
ORPHA:254875 |
| X-Linked Hypophosphatemia |
|
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo... |
ORPHA:89936 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Cleft upper lip, Pectus excavatum, Cleft palate, Finger joint hypermobility |
OMIM:244200 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure |
OMIM:605711 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
High palate, Metaphyseal irregularity, Asthma, Pectus excavatum, 2-3 toe syndactyly, Sclerosis of... |
OMIM:618162 |
| Pyruvate Dehydrogenase Deficiency |
|
High palate, Pectus excavatum, Long philtrum, Tachypnea, Osteolytic defects of the middle phalanx... |
ORPHA:765 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Narrow chest, Pectus excavatum, High palate, Pectus carinatum |
OMIM:300676 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... |
OMIM:241530 |
| Melnick-Needles Syndrome |
|
Narrow chest, Short distal phalanx of finger, Short clavicles, Cone-shaped epiphyses of the phala... |
ORPHA:2484 |
| Camptodactyly Syndrome, Guadalajara, Type I |
|
High palate, Pectus excavatum, Pectus carinatum, Twelfth rib hypoplasia, Absent frontal sinuses, ... |
OMIM:211910 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
High palate, Respiratory distress, Arthrogryposis-like hand anomaly, Paradoxical respiration, Dis... |
OMIM:620011 |
| Myopathy, Centronuclear, 5 |
|
High palate, Hip contracture, Narrow mouth, Micrognathia, Respiratory insufficiency |
OMIM:615959 |
| Bifid Uvula |
|
Cleft lip, Submucous cleft soft palate, Bifid uvula |
ORPHA:99771 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
High palate, Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex congenita |
OMIM:615330 |
| Mcdonough Syndrome |
|
Dental malocclusion, Pectus excavatum, Open bite, Micrognathia, Short philtrum, Abnormal palate m... |
ORPHA:2471 |
| Becker Nevus Syndrome |
|
Rib fusion, Pectus excavatum, Micromelia, Pectus carinatum, Abnormality of tibia morphology, Supe... |
ORPHA:64755 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Weaver Syndrome |
|
Overlapping toe, Toe clinodactyly, Joint contracture of the hand, Prominent fingertip pads, Short... |
OMIM:277590 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Narrow chest, Rhizomelia, 11 pairs of ribs, Anteriorly placed anus |
OMIM:617661 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Apnea, Central sleep apnea, Neonatal respiratory distress, Split hand, Respiratory failure |
ORPHA:168486 |
| Mental Retardation, Buenos Aires Type |
|
High palate, Wide mouth, Dental malocclusion, Clinodactyly of the 5th finger, Pectus excavatum, P... |
OMIM:249630 |
| Typical Nemaline Myopathy |
|
Narrow chest, High palate, Pectus excavatum, Flexion contracture, Micrognathia, Respiratory insuf... |
ORPHA:171436 |
| Distal Monosomy 17Q |
|
Narrow mouth, Abnormal hip bone morphology, Small hand, Respiratory insufficiency, Aplasia/Hypopl... |
ORPHA:1597 |
| Limb-Mammary Syndrome |
|
Joint contracture of the hand, Hypodontia, Cleft palate, Split foot, Syndactyly, Bifid uvula, Cam... |
OMIM:603543 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Narrow chest, Cleft palate, Short femur, Glossoptosis, Micrognathia, Femoral bowing, Metaphyseal ... |
ORPHA:440354 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Wide mouth, Pectus excavatum, Short sternum, Cleft palate, 2-3 finger syndactyly, Pectus carinatu... |
OMIM:312870 |
| Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
High palate, Anodontia, Dental malocclusion, Pectus excavatum, Narrow palate, Supernumerary tooth... |
OMIM:264475 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Central apnea |
ORPHA:71277 |
| Shwachman-Diamond Syndrome 1 |
|
Narrow chest, Coxa vara, Respiratory distress, Metaphyseal chondrodysplasia, Narrow greater sciat... |
OMIM:260400 |
| Distal Trisomy 18Q |
|
High palate, Clinodactyly of the 5th finger, Pectus excavatum, Arachnodactyly, Micrognathia, Camp... |
ORPHA:1716 |
| Seckel Syndrome 1 |
|
High palate, Dislocated radial head, Cone-shaped epiphyses of the phalanges of the hand, Clinodac... |
OMIM:210600 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Narrow chest, Respiratory distress, Wide anterior fontanel, Cleft palate, Tracheomalacia, Microgn... |
OMIM:217980 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Respiratory failure, Death in infancy |
OMIM:616277 |
| Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... |
ORPHA:411703 |
| Cranioectodermal Dysplasia 2 |
|
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Microdontia, Rhizomelia, Short rib... |
OMIM:613610 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Bone cyst, Abnormal hip bone morphology, Abnormality of the dentition, Prema... |
ORPHA:93160 |
| Becker Nevus Syndrome |
|
Cervical ribs, Pectus excavatum |
OMIM:604919 |
| Oculofaciocardiodental Syndrome |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Tooth malposition, Cleft palate, Intestinal m... |
ORPHA:2712 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Episodic tachypnea, High, narrow palate, Slender finger, Micrognathia, Cutaneous syndactyly of to... |
ORPHA:2872 |
| Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
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Thoracic scoliosis, Pectus excavatum, Joint contracture of the hand, Short thumb |
OMIM:258650 |
| Vitamin D-Dependent Rickets, Type 2A |
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Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... |
OMIM:277440 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
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Reduced vital capacity, Nocturnal hypoventilation, Scapular winging, Respiratory failure, Achille... |
OMIM:603689 |
| Robinow Syndrome, Autosomal Recessive 1 |
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Dental crowding, Wide mouth, Pectus excavatum, Triangular mouth, Hypoplastic sacrum, Hypoplasia o... |
OMIM:268310 |
| Microlissencephaly-Micromelia Syndrome |
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Respiratory distress, Adducted thumb, Long philtrum, 11 pairs of ribs, Micromelia |
ORPHA:50810 |
| Coffin-Siris Syndrome 6 |
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Pectus excavatum, High, narrow palate, Cleft palate, Micrognathia, Short philtrum, Brachydactyly,... |
OMIM:617808 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
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Pectus excavatum, Abnormal rib cage morphology, Posterior rib fusion, Pulmonary arterial hyperten... |
OMIM:608406 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
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Wide mouth, Short toe, Pectus excavatum, 2-3 toe syndactyly, Narrow mouth, Micrognathia, Cone-sha... |
OMIM:618659 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
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Down-sloping shoulders, Stridor, Hammertoe, Intercostal muscle weakness, Respiratory failure, Obs... |
OMIM:606071 |
| Primary Pulmonary Hypoplasia |
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Apnea, Asthma, Cyanosis, Tachypnea, Pneumothorax, Abnormal breath sound, Restrictive ventilatory ... |
ORPHA:2257 |
| Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
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Joint stiffness, Pectus excavatum, Arachnodactyly, Deviation of finger, Congenital finger flexion... |
ORPHA:1154 |
| Fetal Akinesia Deformation Sequence 2 |
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High palate, Cleft palate, Flexion contracture, Micrognathia, Respiratory insufficiency, Tented u... |
OMIM:618388 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
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High palate, Pectus excavatum, Craniosynostosis, Osteopenia, Pectus carinatum, Genu valgum, Micro... |
OMIM:182212 |
| Osteogenesis Imperfecta, Type Vii |
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Narrow chest, Coxa vara, Wide anterior fontanel, Pectus excavatum, Bowing of the legs, Recurrent ... |
OMIM:610682 |
| 3-Methylglutaconic Aciduria, Type Viii |
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Apnea, Respiratory failure, Death in infancy |
OMIM:617248 |
| Benign Familial Infantile Epilepsy |
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Apnea, Cyanosis |
ORPHA:306 |
| Auriculocondylar Syndrome |
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Respiratory distress, Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Micrognathia... |
ORPHA:137888 |
| Spastic Paraplegia 81, Autosomal Recessive |
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Bifid uvula, Cleft palate |
OMIM:618768 |
| Mitochondrial Phosphate Carrier Deficiency |
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Respiratory insufficiency, Cyanosis |
OMIM:610773 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
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Short sternum, Triangular mouth, Cleft palate, Micrognathia, Long philtrum |
OMIM:257300 |
| 16P13.11 Microduplication Syndrome |
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Pectus excavatum, Craniosynostosis, Arachnodactyly, Hand polydactyly, Joint hyperflexibility |
ORPHA:261243 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
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Pectus excavatum, Arachnodactyly, Syndactyly, Thoracic kyphosis, Widely spaced teeth, Clinodactyly |
OMIM:619092 |
| Coffin-Lowry Syndrome |
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High palate, Wide mouth, Pectus excavatum, Broad finger, Delayed eruption of teeth, Tapered finge... |
ORPHA:192 |
| Boudin-Mortier Syndrome |
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Long hallux, Pectus excavatum, Mallet finger, Arachnodactyly, Pseudoepiphysis of the 1st metacarp... |
OMIM:619543 |
| Combined Oxidative Phosphorylation Deficiency 51 |
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Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress |
OMIM:619057 |
| Monosomy 18P |
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Enlarged thorax, Pectus excavatum, Tooth malposition, Cleft palate, Hypodontia, Micrognathia, Sho... |
ORPHA:1598 |
| Acquired Methemoglobinemia |
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Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
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Pectus excavatum, Thin vermilion border, Brachydactyly, Carious teeth, Deep philtrum, Abnormal pa... |
ORPHA:2701 |
| Osteogenesis Imperfecta, Type Ii |
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Recurrent fractures, Tibial bowing, Thin ribs, Respiratory insufficiency, Crumpled long bones, Be... |
OMIM:166210 |
| Caudal Regression Syndrome |
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Anal atresia, Joint stiffness, Hypoplastic vertebral bodies, Abnormal iliac wing morphology, Abno... |
ORPHA:3027 |
| Mcdonough Syndrome |
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Dental malocclusion, Pectus excavatum, Micrognathia, Short philtrum, Pectus carinatum, Furrowed t... |
OMIM:248950 |
| Yunis-Varon Syndrome |
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Slender long bones with narrow diaphyses, Absent thumb, Short philtrum, Tapered finger, Short pro... |
ORPHA:3472 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
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Narrow mouth, Pectus excavatum, Cleft palate, Arachnodactyly, Camptodactyly of finger, Long philt... |
ORPHA:2215 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Anal atresia, Narrow mouth, Abnormally ossified vertebrae, Micrognathia, Oral cleft, Abnormal rib... |
ORPHA:3301 |
| Osteopathia Striata With Cranial Sclerosis |
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High palate, Apnea, Pectus excavatum, Cleft palate, Broad ribs, Thick lower lip vermilion, Cleft ... |
OMIM:300373 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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High palate, Cleft palate, Delayed proximal femoral epiphyseal ossification, 11 pairs of ribs, Ge... |
OMIM:271640 |
| Bencze Syndrome |
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Submucous cleft hard palate, Open bite |
ORPHA:1241 |
| Shprintzen-Goldberg Syndrome |
|
Narrow chest, Apnea, Joint stiffness, Pectus excavatum, High, narrow palate, Craniosynostosis, Ar... |
ORPHA:2462 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
High palate, Pectus excavatum, Tooth malposition, Cleft palate |
OMIM:618603 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Rib fusion, Anal atresia, Thin ribs, Short ribs, Missing ribs, Block vertebrae, Vertebral fusion |
OMIM:271520 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Sparse bone trabec... |
ORPHA:289157 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Decreased DLCO, Cough, Restrictive ventilatory defect, Hypoxemia, Dyspnea |
ORPHA:747 |
| Proximal Spinal Muscular Atrophy |
|
Multiple joint contractures, Flexion contracture, Tongue fasciculations, Thoracic kyphosis, Recur... |
ORPHA:70 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Ankle flexion contracture, High, narrow palate, Small hand, Micrognathia, U... |
OMIM:608799 |
| Ritscher-Schinzel Syndrome 1 |
|
Anal atresia, Cleft palate, Micrognathia, Syndactyly, Missing ribs |
OMIM:220210 |
| Acrocraniofacial Dysostosis |
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Short distal phalanx of finger, Pectus excavatum, Flared iliac wing, Partial duplication of the d... |
ORPHA:949 |
| Coffin-Siris Syndrome 11 |
|
High palate, Wide mouth, Small hand, Bifid uvula, Downturned corners of mouth, Esophageal atresia... |
OMIM:618779 |
| Robinow Syndrome, Autosomal Dominant 2 |
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Wide mouth, Triangular mouth, Cleft palate, Abnormality of the dentition, Partial duplication of ... |
OMIM:616331 |
| Hypoadrenocorticism, Familial |
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Apnea, Cyanosis |
OMIM:240200 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Large iliac wing, |
