Hypotrichosis 14 |
|
Sparse hair, Sparse body hair |
OMIM:618275 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
Hypotrichosis 3 |
|
Sparse scalp hair |
OMIM:613981 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Alopecia, Congenital |
|
Alopecia, Sparse hair |
OMIM:300042 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo... |
OMIM:605389 |
Hypotrichosis 13 |
|
Sparse and thin eyebrow, Sparse hair, Woolly hair |
OMIM:615896 |
Hypotrichosis Simplex |
|
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... |
ORPHA:55654 |
Hypotrichosis 4 |
|
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair |
OMIM:146550 |
Hypotrichosis 10 |
|
Sparse eyelashes, Sparse eyebrow, Sparse body hair |
OMIM:614238 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Hypotrichosis 11 |
|
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... |
OMIM:615059 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
Hypotrichosis 7 |
|
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Woolly hair |
OMIM:604379 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail |
OMIM:614928 |
Woolly Hair, Autosomal Recessive 3 |
|
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair |
OMIM:616760 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Alopecia Areata 2 |
|
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp |
OMIM:610753 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia-Mental Retardation Syndrome 1 |
|
Alopecia universalis |
OMIM:203650 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Alopecia Universalis Congenita |
|
Alopecia universalis, Alopecia |
OMIM:203655 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Witkop Syndrome |
|
Fine hair, Small nail, Ridged nail, Concave nail, Sparse hair, Nail pits |
OMIM:189500 |
Hypotrichosis 5 |
|
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair |
OMIM:612841 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair |
ORPHA:505 |
Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
Hypertrichosis Lanuginosa Congenita |
|
Double eyebrow, Congenital, generalized hypertrichosis |
OMIM:145700 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Absent hair, Nail dystrophy, Atrichia, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair |
OMIM:614931 |
Alopecia Universalis |
|
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes |
ORPHA:701 |
Cerebellar Ataxia And Ectodermal Dysplasia |
|
Alopecia, Sparse hair |
OMIM:212835 |
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan |
|
Alopecia, Sparse hair |
OMIM:203600 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Pili torti, Reduced terminal:vellus ratio, Sparse hair |
OMIM:601553 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Sparse and thin eyebrow, Alopecia, Hypoplastic toenails, Abnormal fingernail morphology, Sparse h... |
ORPHA:2722 |
Ichthyosis--Cheek--Eyebrow Syndrome |
|
Sparse lateral eyebrow, Kyphoscoliosis, High palate |
OMIM:146720 |
Angioma Serpiginosum, X-Linked |
|
Fine hair, Nail dystrophy, Sparse hair |
OMIM:300652 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse eyelashes, Abnormal hair morphology, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sp... |
ORPHA:1808 |
Trichodysplasia-Xeroderma Syndrome |
|
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... |
ORPHA:3361 |
Intellectual Developmental Disorder, X-Linked 19 |
|
Thick lower lip vermilion, Kyphoscoliosis, Everted lower lip vermilion, Scoliosis, Dental crowding |
OMIM:300844 |
Alopecia Areata 1 |
|
Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits |
OMIM:104000 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Ringed Hair Disease |
|
Fine hair, Abnormal hair pattern |
ORPHA:169 |
Osteomesopyknosis |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... |
ORPHA:2777 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Lumbar hypertrichosis, Thoracic hypertrichosis, Kyphoscoliosis, Anterior cervical hypertrichosis,... |
OMIM:117850 |
Hypotrichosis 12 |
|
Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars... |
OMIM:615885 |
Pseudopili Annulati |
|
Abnormality of the scalp hair, Abnormality of hair texture |
OMIM:613241 |
Trichodysplasia-Xeroderma |
|
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... |
OMIM:190360 |
Hypertrichosis, Congenital Generalized |
|
Congenital, generalized hypertrichosis, Hirsutism |
OMIM:307150 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Sparse eyelashes, Brittle hair, Coarse hair, Sparse and thin eyebrow, Sparse hair |
OMIM:234030 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Thoracolumbar kyphosis, Kyphoscoliosis, Joint laxity |
OMIM:236660 |
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair |
OMIM:617294 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Joint stiffness |
OMIM:616583 |
Monilethrix |
|
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair |
OMIM:158000 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... |
OMIM:614929 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... |
OMIM:602032 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse eyelashes, Woolly scalp hair, Sparse and thin eyebrow, Woolly hair, Leukonychia, Sparse sc... |
OMIM:616099 |
Ectodermal Dysplasia 5, Hair/Nail Type |
|
Absent toenail, Sparse scalp hair, Dystrophic fingernails |
OMIM:614927 |
Hypotrichosis 8 |
|
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... |
OMIM:278150 |
Bronchopulmonary Dysplasia |
|
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... |
ORPHA:70589 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Distal arthrogryposis, Respiratory insufficiency, Arthrogryposis multiplex congenita, Narrow ches... |
OMIM:208081 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Carious teeth, Alopecia of scalp, Kyphoscoliosis, Ost... |
OMIM:136300 |
Hyperparathyroidism, Transient Neonatal |
|
Thin ribs, Short ribs, Osteopenia, Respiratory distress, Narrow chest |
OMIM:618188 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Osteogenesis Imperfecta, Type Iii |
|
Biconcave vertebral bodies, Decreased calvarial ossification, Micrognathia, Thin ribs, Pulmonary ... |
OMIM:259420 |
Nemaline Myopathy 9 |
|
Micrognathia, Respiratory insufficiency, Arthrogryposis multiplex congenita, Narrow chest, Scoliosis |
OMIM:615731 |
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair |
|
Sparse hair |
OMIM:272980 |
Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair |
OMIM:211390 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Osteogenesis Imperfecta, Type Ii |
|
Thoracic hypoplasia, Thin ribs, Respiratory insufficiency, Limb undergrowth, Platyspondyly, Multi... |
OMIM:166210 |
Osteogenesis Imperfecta, Type Xv |
|
Thin ribs, Platyspondyly, Joint hypermobility, Bowing of limbs due to multiple fractures, Recurre... |
OMIM:615220 |
Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Platyspondyly, Increased vertebral height |
ORPHA:93304 |
Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Intervertebral space narrowing, Irregular vertebral endpla... |
OMIM:271630 |
Familial Scheuermann Disease |
|
Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:3135 |
Scheuermann Disease |
|
Morbus Scheuermann, Kyphosis |
OMIM:181440 |
Myotubular Myopathy With Abnormal Genital Development |
|
Death in infancy, Thin ribs, Neonatal death, Joint hypermobility, Respiratory distress, Retrognat... |
OMIM:300219 |
Asbestos Intoxication |
|
Wheezing, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea, Restrictive ventilatory de... |
ORPHA:2302 |
Osteogenesis Imperfecta, Type X |
|
Micrognathia, Thin ribs, Joint laxity, Chronic lung disease, Malar flattening, Platyspondyly, Gen... |
OMIM:613848 |
Odontochondrodysplasia 1 |
|
Genu varum, Death in infancy, Delayed eruption of teeth, Recurrent respiratory infections, Short ... |
OMIM:184260 |
Kagami-Ogata Syndrome |
|
Long clavicles, Micrognathia, Thin ribs, Limb undergrowth, Kyphoscoliosis, Pulmonary arterial hyp... |
OMIM:608149 |
Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Renal Dysplasia-Limb Defects Syndrome |
|
Fibular aplasia, Renal hypoplasia, Micrognathia, Thin ribs, Phocomelia, Pneumothorax, Aplasia of ... |
OMIM:266910 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Dysosteosclerosis |
|
Short ribs, Delayed eruption of teeth, Absent frontal sinuses, Progressive bowing of long bones, ... |
OMIM:224300 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia |
OMIM:610021 |
Metatropic Dysplasia |
|
Respiratory insufficiency, Long coccyx, Short finger, Short ribs, Platyspondyly, Kyphosis, Relati... |
OMIM:156530 |
Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... |
ORPHA:189 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Carious teeth, Cleft palate, High palate, Hip contracture, Coronal cleft vertebrae, Irregular ver... |
OMIM:618363 |
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair |
|
Coarse hair, Dry hair, Onychogryposis of toenails, Sparse hair |
OMIM:164680 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Limb undergrowth, Short ribs, Narrow chest, Severe platyspondyly, Disc-like vertebral ... |
OMIM:151210 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... |
OMIM:615294 |
Parastremmatic Dwarfism |
|
Short neck, Scoliosis, Flexion contracture, Kyphosis |
OMIM:168400 |
Tooth Agenesis, Selective, 8 |
|
Sparse hair, Sparse eyebrow |
OMIM:617073 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Synophrys, Thick eyebrow, Abnormal rib morphology, Scoliosis, Radioulnar synost... |
ORPHA:3268 |
Multiple Pterygium Syndrome, X-Linked |
|
Micrognathia, Vertebral fusion, Thin ribs, Short finger, Increased susceptibility to fractures, F... |
OMIM:312150 |
Osteogenesis Imperfecta, Type Xviii |
|
Biconcave vertebral bodies, Micrognathia, Thin bony cortex, Thin ribs, Joint laxity, Long eyelash... |
OMIM:617952 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia |
ORPHA:1410 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory insufficiency, Pectus carinatum, Short finger, Hip contracture, Platyspondyly, Knee f... |
OMIM:313420 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Carious teeth, Thin ribs, Increased susceptibility to fractures, Asymmetry of the thorax, Hyperos... |
OMIM:604922 |
Multiple Pterygium Syndrome, Lethal Type |
|
Micrognathia, Vertebral fusion, Thin ribs, Short finger, Increased susceptibility to fractures, F... |
OMIM:253290 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Joint hypermobility, Thin ribs, Retrognathia, Respiratory insufficiency |
ORPHA:456328 |
Mental Retardation, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
Mucus Inspissation Of Respiratory Tract |
|
Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis, Recurrent respiratory infection... |
OMIM:253240 |
Acro-Renal-Mandibular Syndrome |
|
Micrognathia, Butterfly vertebrae, Rudimentary fibula, Thin ribs, Hypoplastic scapulae, Pectus ca... |
ORPHA:958 |
Monilethrix |
|
Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,... |
ORPHA:573 |
Oligomeganephronia |
|
Bilateral renal hypoplasia, Renal tubular atrophy, Micrognathia, Abnormal nephron morphology, Abn... |
ORPHA:2260 |
Orofaciodigital Syndrome Xi |
|
Cleft palate, Kyphoscoliosis, Hypoplasia of the odontoid process |
OMIM:612913 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Spondylolysis, Os odontoideum, Spondylolisthesis at L5-S1, Atlantoaxial instability, Atlantoaxial... |
OMIM:600561 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Thin ribs, Rhizomelia, Platyspondyly, Distal shortening of limbs, 11 pairs of ribs, Decreased sku... |
OMIM:300863 |
3M Syndrome |
|
Horizontal ribs, Thin ribs, Short thorax, Abnormal dental enamel morphology, Delayed eruption of ... |
ORPHA:2616 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Thin ribs, Irregular vertebral endplates, Platyspondyly, Hypoplasia of the ulna, Short neck, Shor... |
OMIM:618395 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Recurrent aspiration pneumonia, Thin ribs, Generalized bone demineralization, Hyper... |
ORPHA:73230 |
Severe Congenital Nemaline Myopathy |
|
Thin ribs, Multiple prenatal fractures, Abnormal thorax morphology, Arthrogryposis multiplex cong... |
ORPHA:171430 |
Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Abnormal form of the vertebral bodies, Kyphosis, Mesomelic/rhizomelic limb shor... |
ORPHA:1354 |
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Kyphoscoliosis, Arthrogryposis multiplex congenita |
OMIM:212540 |
Cole-Carpenter Syndrome 2 |
|
Pectus excavatum, Thin ribs, Platyspondyly, Kyphosis, Osteopenia, Dentinogenesis imperfecta, Coro... |
OMIM:616294 |
Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Thin ribs, Respiratory insufficiency, Flexion contracture, Congenital contracture |
OMIM:615368 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Anterior rib cupping, Thin ribs, Low anterior hairline, Short finger, Malar flattening, Platyspon... |
OMIM:300232 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Thin ribs, Respiratory insufficiency, Elbow flexion contracture, Flexion contractur... |
OMIM:601559 |
Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... |
ORPHA:170 |
Metatropic Dysplasia |
|
Long thorax, Abnormal intervertebral disk morphology, Aplasia/Hypoplasia of the lungs, Abnormal f... |
ORPHA:2635 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Pectus excavatum, Respiratory insufficiency, Respiratory failure, Respiratory distress, Camptodac... |
OMIM:614399 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Arthrogryposis multiplex congenita, Micrognathia, Craniosynostosis, Thin ribs |
OMIM:618265 |
Sternum, Premature Obliteration Of Sutures Of |
|
Short sternum, Micrognathia, Premature sternal synostosis |
OMIM:184800 |
Jeune Syndrome |
|
Toe syndactyly, Aplasia/Hypoplasia of the lungs, Respiratory insufficiency, Cone-shaped epiphysis... |
ORPHA:474 |
Ciliary Dyskinesia, Primary, 20 |
|
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:615067 |
Hypotrichosis 6 |
|
Sparse eyelashes, Brittle hair, Pili torti, Sparse and thin eyebrow, Sparse hair |
OMIM:607903 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Mandibular prognathia, Generalized osteosclerosis, Abnormal form of the... |
ORPHA:2790 |
Fibrochondrogenesis 1 |
|
Thin clavicles, Long clavicles, Thoracic hypoplasia, Anterior rib cupping, Thin ribs, Hypoplastic... |
OMIM:228520 |
Diastrophic Dysplasia |
|
Costal cartilage calcification, Cleft palate, Hip contracture, Kyphoscoliosis, Cervical kyphosis,... |
OMIM:222600 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aplasia/Hypoplasia of fingers, Micrognathia, Temporomandibular joint ankylosis, Upper airway obst... |
ORPHA:141152 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Joint hypermobility, Kyphoscoliosis, High palate, Flexion contracture |
OMIM:616470 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin clavicles, Carious teeth, Cortical thickening of long bone diaphyses, Thin ribs, Small hand,... |
ORPHA:93324 |
Recurrent Respiratory Papillomatosis |
|
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... |
ORPHA:60032 |
Three M Syndrome 2 |
|
Thin ribs, Pectus carinatum, Short thorax, Malar flattening, Delayed eruption of teeth, Short 5th... |
OMIM:612921 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Micrognathia, Death in infancy, Thin ribs, Rhizomelia, Platyspondyly, Short foot, Short palm |
ORPHA:163966 |
Whistling Face Syndrome, Recessive Form |
|
Shoulder flexion contracture, High palate, Long philtrum, Kyphoscoliosis, Microglossia, Whistling... |
OMIM:277720 |
Ciliary Dyskinesia, Primary, 29 |
|
Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Decreased nasal nitric oxid... |
OMIM:615872 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Hemivertebrae, Short neck, Vertebral clefting, Rib fusion, Restrictive ventilatory defect, Recurr... |
OMIM:608681 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... |
OMIM:277300 |
Leukodystrophy, Hypomyelinating, 17 |
|
Widely spaced teeth, Hirsutism, Kyphoscoliosis, Gingival overgrowth, Flexion contracture |
OMIM:618006 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Kyphoscoliosis, Tongue atrophy, Knee flexion contracture |
ORPHA:496689 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Nonspecif... |
OMIM:610921 |
Hyperekplexia 4 |
|
Distal arthrogryposis, High palate, Kyphoscoliosis, Flexion contracture, Camptodactyly |
OMIM:618011 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Interl... |
ORPHA:79126 |
Crandall Syndrome |
|
Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair |
ORPHA:202 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Carious teeth, Hypodontia, Kyphoscoliosis, Alopecia, Flexion contracture |
OMIM:612079 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Hirsutism, Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Lumbar scoliosis |
OMIM:612847 |
Oculotrichodysplasia |
|
Sparse eyelashes, Sparse lateral eyebrow, Sparse scalp hair, Sparse pubic hair, Generalized hypot... |
OMIM:257960 |
Trichodental Dysplasia |
|
Fine hair, Brittle hair, Sparse hair, Slow-growing hair |
OMIM:601453 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
High, narrow palate, Kyphoscoliosis, Atlantoaxial abnormality, Hypermobility of interphalangeal j... |
ORPHA:3433 |
Multiple Synostoses Syndrome 1 |
|
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Brach... |
OMIM:186500 |
Marshall-Smith Syndrome |
|
Pectus excavatum, Recurrent aspiration pneumonia, Obstructive sleep apnea, Large sternal ossifica... |
OMIM:602535 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse eyelashes, Pathologic fracture, Mandibular osteolysis, Sparse and thin eyebrow, Limited el... |
OMIM:614008 |
Renal Hypoplasia |
|
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... |
ORPHA:93101 |
Pulmonary Blastoma |
|
Cough, Pulmonary infiltrates, Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma |
ORPHA:64741 |
Tarp Syndrome |
|
Horseshoe kidney, Hydronephrosis, Micrognathia, Pectus excavatum, Rocker bottom foot, Postaxial p... |
ORPHA:2886 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Micrognathia, Respiratory insufficiency due to muscle weakness, Arthrogryposis multiplex congenit... |
OMIM:618291 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Tachypnea, Abnormal thorax morphology, Respiratory tract infection, Pulmona... |
ORPHA:70587 |
Campomelic Dysplasia |
|
Thoracic hypoplasia, Shortening of all phalanges of the toes, Micrognathia, Thin ribs, Hypoplasti... |
OMIM:114290 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Kyphoscoliosis |
OMIM:271200 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair |
ORPHA:1008 |
Ciliary Dyskinesia, Primary, 33 |
|
Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lowe... |
OMIM:616726 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... |
OMIM:619466 |
Osteogenesis Imperfecta, Type Xiii |
|
Long philtrum, Kyphoscoliosis, Osteoporosis, Long eyelashes, Platyspondyly, Thin vermilion border... |
OMIM:614856 |
Kenny-Caffey Syndrome, Type 1 |
|
Thin clavicles, Long clavicles, Carious teeth, Thin ribs, Small hand, Calvarial osteosclerosis, D... |
OMIM:244460 |
Scarf Syndrome |
|
Hypoplastic nipples, Hypocalcification of dental enamel, Pectus carinatum, Craniosynostosis, Shor... |
ORPHA:3134 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Ankle flexion contracture, Kyphoscoliosis |
OMIM:616668 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
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Micrognathia, Respiratory insufficiency due to muscle weakness, Neonatal death, Arthrogryposis mu... |
OMIM:611890 |
Acrorenal Syndrome, Autosomal Recessive |
|
Renal hypoplasia, Split hand, Radial deviation of finger, Decreased numbers of nephrons, Renal in... |
OMIM:201310 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Abnormal eyelash morphology, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Spar... |
ORPHA:1818 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Kyphoscoliosis, Flexion contracture |
OMIM:617977 |
Tarp Syndrome |
|
Horseshoe kidney, Hydronephrosis, Micrognathia, Pectus excavatum, Postaxial polydactyly, Hypoplas... |
OMIM:311900 |
Osteogenesis Imperfecta, Type Xi |
|
Biconcave vertebral bodies, Vertebral wedging, Increased susceptibility to fractures, Kyphoscolio... |
OMIM:610968 |
Nemaline Myopathy 4 |
|
Kyphoscoliosis, High palate, Flexion contracture |
OMIM:609285 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Elevated bronchoalveolar lavage flu... |
OMIM:610978 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Chronic sinusitis, Atelectasis, Recurrent bronchitis |
OMIM:300455 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Tachypnea, Respiratory distress, Pulmonary edema, Dyspnea, Atelect... |
OMIM:267450 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Hirsutism, Long philtrum, Kyphoscoliosis, Osteoporosis, Thin vermilion border, Joint contracture ... |
OMIM:214150 |
Myasthenic Syndrome, Congenital, 19 |
|
Micrognathia, Respiratory insufficiency, Pectus carinatum, Recurrent lower respiratory tract infe... |
OMIM:616720 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, 2-3 toe syndactyly, Hypoplastic nipples, Hirsutism, Phocomelia, Curly eyelashes, Pro... |
OMIM:122470 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Nodular pattern on pulmonary HRCT, Dyspnea, Ground-glass opacification, Cough |
ORPHA:60026 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Renal dysplasia, Renal cyst, Bronchiolitis, Respiratory distress, Recurrent respi... |
OMIM:615993 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Elbow ankylosis, Abnormal vertebral morphology, Hamstring contractures, Kyphoscoliosis, Short neck |
ORPHA:96183 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Thin ribs, Vertebral fusion, Hemivertebrae, Block vertebrae, Missing ribs, Short ribs, Supernumer... |
OMIM:271520 |
Lethal Osteosclerotic Bone Dysplasia |
|
Micrognathia, Mandibular aplasia, Short neck, Respiratory distress, Retrognathia, Respiratory fai... |
ORPHA:1832 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Hemivertebrae, Abnormal form of the vertebral bodies, Missing ribs, Respiratory distress, Recurre... |
ORPHA:2759 |
Woolly Hair, Autosomal Dominant |
|
Abnormal hair morphology, Dry hair, Coarse hair, Woolly hair, Slow-growing hair |
OMIM:194300 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency |
OMIM:253300 |
Proteus Syndrome |
|
Mandibular hyperostosis, Spinal canal stenosis, Thin bony cortex, Kyphoscoliosis, Open mouth, Cal... |
OMIM:176920 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Desquamative interstitial pneumonitis, Tachypnea, Tubulointerstitial fibrosis, Cough, Respiratory... |
OMIM:263000 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse eyelashes, Sparse eyebrow, Sparse scalp hair, Leukonychia, Sparse axillary hair, Sparse ha... |
OMIM:613102 |
Kyphomelic Dysplasia |
|
Micrognathia, Anterior rib cupping, Lateral clavicle hook, Abnormal form of the vertebral bodies,... |
ORPHA:1801 |
Hallermann-Streiff Syndrome |
|
Sparse eyelashes, Malar flattening, Sparse and thin eyebrow, Recurrent respiratory infections, Sp... |
OMIM:234100 |
Scarf Syndrome |
|
Hypoplastic nipples, Pectus carinatum, Low anterior hairline, Low posterior hairline, Short stern... |
OMIM:312830 |
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate |
|
Sparse hair |
OMIM:129810 |
Familial Nasal Acilia |
|
Abnormal respiratory motile cilium morphology, Bronchiectasis, Chronic rhinitis, Chronic sinusiti... |
ORPHA:922 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Cleft palate, Coronal cleft vertebrae, Epiphyseal stippling, Kyphoscoliosis, Alopecia, Calcific s... |
OMIM:215100 |
Uncombable Hair Syndrome 3 |
|
Curly hair, Pili canaliculi, Uncombable hair |
OMIM:617252 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Wheezing, Hypoxemia, Crackles, Abnormal pulmonary thoracic imaging finding, Hypersensitivity pneu... |
ORPHA:2902 |
Dysspondyloenchondromatosis |
|
Osteoarthritis, Kyphoscoliosis, Generalized joint laxity, Platyspondyly, Anisospondyly, Vertebral... |
ORPHA:85198 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Tachypnea... |
OMIM:265120 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Cleft palate, High palate, Long upper lip, Abnormal vertebral morphology, Beaking of vertebral bo... |
ORPHA:93359 |
Choroidal Atrophy-Alopecia Syndrome |
|
Fine hair, Ungual fibroma, Abnormal toenail morphology, Sparse or absent eyelashes, Abnormal fing... |
ORPHA:1433 |
Osteogenesis Imperfecta, Type Viii |
|
Thin ribs, Platyspondyly, Multiple prenatal fractures, Kyphosis, Osteopenia, Type 1 collagen over... |
OMIM:610915 |
Ulbright-Hodes Syndrome |
|
Phocomelia, Short ribs, Hypoplasia of the radius, Short humerus, Respiratory failure, Micrognathi... |
ORPHA:3404 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Respiratory insufficiency, Lateral clavicle hook, Postaxial polydactyly, Nephroc... |
OMIM:615633 |
Pachyonychia Congenita 4 |
|
Nail dystrophy, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:615728 |
Spondyloepiphyseal Dysplasia Tarda |
|
Knee osteoarthritis, Abnormal lumbar spine morphology, Increased bone mineral density, Premature ... |
ORPHA:93284 |
Meconium Aspiration Syndrome |
|
Wheezing, Hypoxemia, Atelectasis, Transient pulmonary infiltrates, Pneumothorax, Pulmonary arteri... |
ORPHA:70588 |
Bronchogenic Cyst |
|
Pneumonia, Bronchogenic cyst, Cough, Back pain, Abnormal lumbar spine morphology, Abnormality of ... |
ORPHA:2357 |
Hip Dysplasia, Beukes Type |
|
Abnormality of bone mineral density, Kyphosis, Abnormal ossification involving the femoral head a... |
ORPHA:2114 |
Tracheobronchopathia Osteochondroplastica |
|
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... |
ORPHA:3348 |
Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Abnormal vertebral segmentation and fusion, Narrow... |
ORPHA:66637 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation |
|
Macroglossia, Kyphoscoliosis, Protruding tongue |
OMIM:227250 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Pectus excavatum, Micrognathia, Lateral clavicle hook, Thin ribs, Pectus carinatum, Obstructive s... |
OMIM:182212 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Cervical subluxation, Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Arthritis, Sh... |
OMIM:184100 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Abnormal sacrum morphology, Posterior rib fusion, Short thorax, Missing ribs, Spina bifida occult... |
ORPHA:1797 |
Momo Syndrome |
|
Abnormal bone ossification, Congenital pseudoarthrosis of the clavicle, Delayed eruption of teeth... |
ORPHA:2563 |
Lethal Recessive Chondrodysplasia |
|
Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Respiratory ... |
ORPHA:1423 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Brachyolmia Type 1, Hobaek Type |
|
Intervertebral space narrowing, Back pain, Kyphosis, Osteopenia, Short neck, Squared-off platyspo... |
OMIM:271530 |
Meier-Gorlin Syndrome 1 |
|
Short ribs, Joint contracture of the hand, Camptodactyly, Hypoplasia of the maxilla, Breast hypop... |
OMIM:224690 |
Greenberg Dysplasia |
|
Epiphyseal stippling, Neonatal death, Malar flattening, Abnormal bone structure, Multiple prenata... |
OMIM:215140 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Wheezing, Honeycomb lung, Hypoxemia, Chronic bronchitis, Chronic pulmonary obstruction, Bronchiec... |
ORPHA:79127 |
Van Den Ende-Gupta Syndrome |
|
Pectus excavatum, Stridor, Lateral clavicle hook, Thin ribs, Glenoid fossa hypoplasia, Malar flat... |
OMIM:600920 |
Acrorenal-Mandibular Syndrome |
|
Micrognathia, Butterfly vertebrae, Thin ribs, Hypoplastic scapulae, Hemivertebrae, Kyphoscoliosis... |
OMIM:200980 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... |
OMIM:610913 |
Schopf-Schulz-Passarge Syndrome |
|
Small nail, Apocrine hidrocystoma, Onycholysis, Ridged nail, Thin nail, Narrow nail, Sparse hair,... |
OMIM:224750 |
Myopathic Ehlers-Danlos Syndrome |
|
Contractures involving the joints of the feet, Ankle flexion contracture, High, narrow palate, Sh... |
ORPHA:536516 |
Bullous Dystrophy, Hereditary Macular Type |
|
Short finger, Tapered finger, Alopecia totalis, Acrocyanosis, Death in childhood |
OMIM:302000 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory insufficiency, Limb undergrowth, Short ribs, Narrow chest, Respiratory failure, Thora... |
OMIM:273730 |
Atelosteogenesis, Type Ii |
|
Thoracic hypoplasia, Micrognathia, Short middle phalanx of finger, Short greater sciatic notch, R... |
OMIM:256050 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Kyphoscoliosis |
OMIM:619099 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Thoracic hypoplasia, Horizontal ribs, Lateral clavicle hook, Short ribs, Hypoplasia of the radius... |
OMIM:617895 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Nail dystrophy, Alopecia, Sparse hair |
OMIM:616353 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory failure, Central apnea, Death in infancy, Respiratory insufficiency |
OMIM:611722 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Hypospadias, Hypoplastic nipples, Hypoplasia of first ribs, Thickened cortex of long bones, Malar... |
OMIM:269150 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Scoliosis, Rib fusion, Hypoplasia of the odontoid process, Vertebral segmentation defec... |
OMIM:609813 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Pectus excavatum, Decreased calvarial ossification, Pectus carinatum, Platyspo... |
OMIM:259440 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Limited elbow flexion, Abnormal respiratory system physiology, Respiratory insufficiency, Reduced... |
ORPHA:266 |
Achondrogenesis Type 1B |
|
Micrognathia, Aplasia/Hypoplasia of the lungs, Short thorax, Short foot, Narrow chest, Abnormal r... |
ORPHA:93298 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Micrognathia, Metatarsal osteolysis, Metacarpal osteolysis, Osteolysis involving tarsal bones, Os... |
OMIM:166300 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Pectus excavatum, Hirsutism, Thin ribs, Malar flattening, Osteopenia, Joint hypermobility, Lumbar... |
ORPHA:2463 |
Ck Syndrome |
|
High palate, Kyphoscoliosis, Joint hypermobility, Lumbar hyperlordosis, Dental crowding |
ORPHA:251383 |
Spondylometaphyseal Dysplasia, East African Type |
|
Genu varum, Metaphyseal widening, Rounded epiphyses, Coxa vara, Bell-shaped thorax, Short long bo... |
OMIM:611702 |
You-Hoover-Fong Syndrome |
|
Kyphoscoliosis |
OMIM:616954 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Cleft palate, Long upper lip, Kyphoscoliosis, Platyspondyly, Carpal synostosis, Advanced ossifica... |
OMIM:615349 |
Warburg Micro Syndrome 1 |
|
Hypertrichosis, Kyphoscoliosis, Osteoporosis, Facial hypertrichosis, Thin vermilion border, Joint... |
OMIM:600118 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Kyphosis, ... |
ORPHA:40 |
Axial Spondylometaphyseal Dysplasia |
|
Thoracic hypoplasia, Flaring of lower rib cage, Neonatal respiratory distress, Posterior wedging ... |
ORPHA:168549 |
Myopathy, Congenital, Bailey-Bloch |
|
High palate, Cleft palate, Kyphoscoliosis, Downturned corners of mouth, Flexion contracture |
OMIM:255995 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Kyphoscoliosis, Osteoporosis, Amelogenesis imperfecta, Joint laxity |
OMIM:614727 |
Hypophosphatasia |
|
Respiratory insufficiency, Craniosynostosis, Narrow chest, Abnormal rib morphology, Recurrent fra... |
ORPHA:436 |
Short Stature, Brussels Type |
|
Horseshoe kidney, Delayed epiphyseal ossification, Calcification of cartilage, Narrow chest, Micr... |
ORPHA:2867 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Joint hypermobility, Kyphoscoliosis, Osteopenia |
ORPHA:300179 |
Bazex-Dupré-Christol Syndrome |
|
Sparse and thin eyebrow, Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse or absent eyelashe... |
ORPHA:113 |
Coffin-Lowry Syndrome |
|
Highly arched eyebrow, Pectus excavatum, Abnormal hair morphology, Pectus carinatum, Tapered fing... |
OMIM:303600 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Fine hair, Sparse eyelashes, Nail dysplasia, Slow-growing hair, Sparse and thin eyebrow, Sparse hair |
OMIM:129490 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Abnormal hair morphology, Dystrophic fingernails, Craniosynostosis, Cough, Delayed eruption of te... |
ORPHA:2314 |
Diaphanospondylodysostosis |
|
Cystic renal dysplasia, Thoracic hypoplasia, Micrognathia, Absent in utero ossification of verteb... |
OMIM:608022 |
Osteogenesis Imperfecta |
|
Carious teeth, Neonatal respiratory distress, Abnormal form of the vertebral bodies, Abnormal den... |
ORPHA:666 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Kyphoscoliosis |
OMIM:600384 |
Bone Dysplasia, Lethal, Holmgren Type |
|
Bell-shaped thorax, Narrow chest, Short ribs, Respiratory insufficiency |
OMIM:211120 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Cough, Respiratory failure, Dyspnea, Respiratory failure requiring assisted ventilation, Aspirati... |
ORPHA:90117 |
Developmental And Epileptic Encephalopathy 41 |
|
Kyphoscoliosis, Flexion contracture |
OMIM:617105 |
Diastrophic Dysplasia |
|
Micrognathia, Respiratory insufficiency, Short finger, Abnormal clavicle morphology, Abnormal for... |
ORPHA:628 |
Joubert Syndrome 18 |
|
Joint laxity, Kyphoscoliosis, Camptodactyly |
OMIM:614815 |
Primary Pulmonary Hypoplasia |
|
Abnormal breath sound, Hypoxemia, Micrognathia, Neonatal respiratory distress, Tachypnea, Pneumot... |
ORPHA:2257 |
Odontochondrodysplasia |
|
Death in infancy, Cone-shaped epiphysis, Bowing of the long bones, Abnormality of the metaphysis,... |
ORPHA:166272 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Arthrogryposis, Distal, Type 3 |
|
Distal arthrogryposis, Cleft palate, High palate, Submucous cleft hard palate, Kyphoscoliosis, Ar... |
OMIM:114300 |
Aspergillosis |
|
Sinusitis, Abnormality of the vertebral column, Pleuritis, Chronic pulmonary obstruction, Hyperse... |
ORPHA:1163 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Micrognathia, Knee flexion contracture, Kyphosis, Spinal rigidity, Hyperextensibility at wrists, ... |
ORPHA:75840 |
Radio-Renal Syndrome |
|
Micrognathia, Micromelia, Abnormal form of the vertebral bodies, Hypoplasia of the radius, Short ... |
ORPHA:3015 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Achilles tendon contracture, Bronchiolitis, Exertional dyspnea, Decreased cervical spine flexion ... |
ORPHA:254361 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Supernumerary tooth, Short sternum, Postaxial foot polydactyly, Postaxial hand ... |
OMIM:258850 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Long thorax, Sparse axillary hair, Progeroid facial appearance, Disharmonious carpal bone, Genu v... |
OMIM:608154 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs, Flexion contracture |
OMIM:614833 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
Geroderma Osteodysplasticum |
|
Biconcave vertebral bodies, Irregular vertebral endplates, Beaking of vertebral bodies, Increased... |
OMIM:231070 |
Achondrogenesis Type 1A |
|
Micrognathia, Aplasia/Hypoplasia of the lungs, Multiple rib fractures, Short thorax, Short foot, ... |
ORPHA:93299 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Brittle hair, Alopecia, Sparse eyebrow, Nail dysplasia, Leukonychia, Sparse hair |
OMIM:104100 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Kyphoscoliosis, Synophrys |
OMIM:615541 |
Momo Syndrome |
|
Delayed eruption of teeth, Short sternum, Taurodontia, Cutis marmorata, Dental malocclusion |
OMIM:157980 |
Proliferating Trichilemmal Cyst |
|
Sparse scalp hair |
ORPHA:492 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Pulmonary infiltrates, Abnorma... |
ORPHA:724 |
Autosomal Dominant Centronuclear Myopathy |
|
Neonatal asphyxia, Respiratory insufficiency due to muscle weakness, Thin ribs |
ORPHA:169189 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory insufficiency, Ectopic ossification in muscle tissue, Ectopic ossification in ligamen... |
OMIM:135100 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency, Flexion contracture |
OMIM:616081 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Hypodontia, High palate, Irregular vertebral endplates, Kyphoscoliosis, Joint contracture of the ... |
OMIM:612350 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Kyphosis, Spinal rigidity, Hyperlordosis, Flexion contracture, Short neck, Scoliosis |
OMIM:300718 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
High palate, Frontal balding, Lumbar kyphosis in infancy, Short philtrum, Early balding, Kyphosco... |
ORPHA:3041 |
Pneumocystosis |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Combined cyst... |
ORPHA:723 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Kyphoscoliosis, Flexion contracture |
OMIM:607855 |
Orofaciodigital Syndrome Type 3 |
|
Pectus excavatum, Stage 5 chronic kidney disease, Short sternum, Thoracic kyphosis, Postaxial foo... |
ORPHA:2752 |
Rowley-Rosenberg Syndrome |
|
Pulmonary arterial hypertension, Recurrent pneumonia, Atelectasis |
OMIM:268500 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Kyphoscoliosis, Sparse hair, Camptodactyly of finger |
OMIM:610756 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Micrognathia, Abnormal form of the vertebral bodies, Abnormal cortical bone morphology, Recurrent... |
ORPHA:1486 |
Moynahan Syndrome |
|
Alopecia, Sparse hair |
ORPHA:2574 |
Cyanosis And Hepatic Disease |
|
Cyanosis, Dyspnea, Clubbing |
OMIM:219400 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Widow's peak, Sparse hair, Thick eyebrow |
OMIM:606242 |
Melnick-Needles Syndrome |
|
Short thorax, Delayed eruption of teeth, Recurrent respiratory infections, Cone-shaped epiphyses ... |
ORPHA:2484 |
Leukodystrophy, Hypomyelinating, 3 |
|
Progressive flexion contractures, Kyphoscoliosis, Arthrogryposis multiplex congenita |
OMIM:260600 |
Progressive Pseudorheumatoid Dysplasia |
|
Decreased cervical spine mobility, Kyphoscoliosis, Osteoporosis, Joint contracture of the hand, P... |
OMIM:208230 |
Pili Torti |
|
Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn... |
ORPHA:2889 |
Turnpenny-Fry Syndrome |
|
Thoracic kyphoscoliosis, Prominent interphalangeal joints, Long thorax, Pectus excavatum, Obstruc... |
OMIM:618371 |
Rigid Spine Syndrome |
|
Respiratory insufficiency, Pneumonia, Hip contracture, Hamstring contractures, Spinal rigidity, H... |
ORPHA:97244 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Spinal rigidity, Achilles tendon contracture |
OMIM:604801 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Long philtrum, Cleft soft palate, Kyphoscoliosis, Gingival overgrowth, Sacral di... |
OMIM:616331 |
Alopecia Antibody Deficiency |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Abnormal eyelash morphology |
ORPHA:1006 |
Primary Ciliary Dyskinesia |
|
Wheezing, Productive cough, Pulmonary situs ambiguus, Neonatal respiratory distress, Bronchiectas... |
ORPHA:244 |
Spondylometaphyseal Dysplasia, Axial |
|
Thoracic hypoplasia, Anterior rib cupping, Rhizomelia, Platyspondyly, Recurrent pneumonia, Short ... |
OMIM:602271 |
Microphthalmia, Syndromic 13 |
|
Kyphoscoliosis, Diastema |
OMIM:300915 |
Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Kyphoscoliosis, Massively thickened long bone cortices |
OMIM:122900 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... |
ORPHA:254875 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
Dystonia, Juvenile-Onset |
|
Cleft upper lip, Kyphoscoliosis, Cleft palate |
OMIM:607371 |
Trichoodontoonychial Dysplasia With Bone Deficiency |
|
Nail dystrophy, Nail dysplasia, Sparse hair, Supernumerary nipple |
OMIM:275450 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal metacarpal morphology, Pulmonary hypoplasia, Abnormal lung lobation, Abnormality of epip... |
ORPHA:2631 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Block vertebrae, Missing ri... |
OMIM:613686 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Horseshoe kidney, Renal hypoplasia, Renal agenesis, Respiratory insufficiency, Renal dysplasia, B... |
OMIM:617641 |
Pleural Mesothelioma |
|
Abnormal respiratory system physiology, Cough, Abnormal thorax morphology, Respiratory distress, ... |
ORPHA:50251 |
Short-Rib Thoracic Dysplasia 12 |
|
Horizontal ribs, Hypoplastic nipples, Respiratory insufficiency, Hypoplastic scapulae, Short fing... |
OMIM:269860 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Micrognathia, Respiratory insufficiency, Neonatal death, Mesomelia, Respiratory failure, Hypoplas... |
OMIM:228940 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory failure, Apnea, Respiratory insufficiency, Flexion contracture |
OMIM:613869 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Bronchiolitis obliterans, Hypoxemia, Pneumonia, Bronchiectasis, Reduced forced expiratory volume ... |
ORPHA:1303 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Abnormal fingernail morphology, Absent eyebrow, Absent eyelashes, Abnormal toenail morphology, Na... |
ORPHA:1809 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Thin ribs, Progressive congenital scoliosis, Respiratory insufficiency, Kyphoscoliosis, Osteoporo... |
OMIM:225400 |
Pallister-Hall-Like Syndrome |
|
Micrognathia, Death in infancy, Renal dysplasia, Short ribs, Hip dislocation, Micropenis, Postaxi... |
OMIM:241800 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, 2-3 toe syndactyly, Microretrognathia, Renal dysplasia, Neonatal death, Renal c... |
OMIM:236500 |
Congenital Contractural Arachnodactyly |
|
High palate, Duodenal atresia, Arthrogryposis multiplex congenita, Intestinal malrotation, Trache... |
ORPHA:115 |
Achondrogenesis Type 2 |
|
Micromelia, Delayed proximal femoral epiphyseal ossification, Pulmonary hypoplasia, Short ribs, A... |
ORPHA:93296 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Carious teeth, Atlantoaxial dislocation, Restrictive ventilatory defect, Congenital kyphoscoliosi... |
ORPHA:536467 |
Warburg Micro Syndrome 3 |
|
Hypertrichosis, Low anterior hairline, Kyphoscoliosis, Narrow palate, Downturned corners of mouth... |
OMIM:614222 |
Greenberg Dysplasia |
|
Micrognathia, Anterior rib punctate calcifications, Rhizomelia, Abnormal form of the vertebral bo... |
ORPHA:1426 |
Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy, Flexion contracture |
OMIM:615348 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Absent lower eyelashes, Distichiasis, Low anterior hairline, Sparse hair |
OMIM:227260 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal rib morphology |
ORPHA:1513 |
Focal Facial Dermal Dysplasia Type I |
|
Low anterior hairline, Sparse lateral eyebrow, Absent eyelashes, Distichiasis, Sparse hair |
ORPHA:79133 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Interphalangeal joint contracture of finger, Ankle flexion contracture, High palate, Hip contract... |
ORPHA:1145 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Fine hair, Sparse hair |
ORPHA:1174 |
Uncombable Hair Syndrome 1 |
|
Dry hair, Pili canaliculi, Uncombable hair |
OMIM:191480 |
Scedosporiosis |
|
Sinusitis, Arthralgia/arthritis, Bronchial breath sound, Abnormal respiratory system physiology, ... |
ORPHA:449280 |
King-Denborough Syndrome |
|
High palate, Kyphoscoliosis, Deep philtrum, Joint hypermobility, Thoracic kyphosis, Short neck, S... |
OMIM:619542 |
Craniosynostosis, Herrmann-Opitz Type |
|
Micrognathia, Aplasia/Hypoplasia of the lungs, Craniosynostosis, Malar flattening, Split hand, Fi... |
ORPHA:2145 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Respiratory insufficiency, Wide-cupped costochondral junctions,... |
OMIM:187601 |
Rahman Syndrome |
|
Kyphoscoliosis, Camptodactyly |
OMIM:617537 |
Pseudoachondroplasia |
|
Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ... |
ORPHA:750 |
Chst3-Related Skeletal Dysplasia |
|
Highly arched eyebrow, Intervertebral space narrowing, Long philtrum, Kyphoscoliosis, Abnormal fo... |
ORPHA:263463 |
Apnea, Central Sleep |
|
Abnormal pattern of respiration, Cyanosis, Urinary incontinence, Sleep apnea, Irregular respiration |
OMIM:207720 |
Braddock Syndrome |
|
Pectus excavatum, Neonatal respiratory distress, Micrognathia, Hemivertebrae, Pulmonary arterial ... |
ORPHA:52047 |
Idiopathic Bronchiectasis |
|
Wheezing, Productive cough, Abnormal respiratory system physiology, Crackles, Bronchiectasis, Red... |
ORPHA:60033 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Flared, irregular rib ends, Platyspondyly, Limitation of joint mobility, Short palm, Micromelia |
ORPHA:168555 |
Perching Syndrome |
|
Respiratory distress, Flexion contracture, Camptodactyly |
OMIM:617055 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse eyelashes, Kyphoscoliosis, Sparse scalp hair, Osteopenia, Abnormality of primary teeth, Gi... |
ORPHA:75496 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Hypospadias, Respiratory distress, Micrognathia, Clinodactyly |
OMIM:300934 |
Emphysema, Hereditary Pulmonary |
|
Chronic pulmonary obstruction, Emphysema, Chronic bronchitis |
OMIM:130700 |
Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy, Congenital contracture |
OMIM:225753 |
Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Abnormal sacrum morphology, Abnormal vertebral segmentation ... |
ORPHA:2345 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Hyperextensible hand joints, Kyphoscoliosis, Drooling, Flexion contracture, Camptodactyly |
OMIM:275900 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Multiple joint contractures, Respiratory insufficiency, Decreased cervical spine mobility, Spinal... |
ORPHA:370968 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Metaphyseal irregularity, Short ribs, Foot polydactyly, Hand polydactyly, Chron... |
OMIM:208500 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Slow-growing hair, Sparse eyelashes, Sparse body hair |
OMIM:618535 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Abnormality of the vertebral column, C1-C2 subluxation, Central apnea, Neonatal respiratory distr... |
ORPHA:79345 |
Oliver-Mcfarlane Syndrome |
|
Long eyebrows, Sparse hair, Long eyelashes, Alopecia |
OMIM:275400 |
Hypochondroplasia |
|
Genu varum, Aplasia/hypoplasia of the extremities, Malar flattening, Limited elbow extension, Abn... |
OMIM:146000 |
Pycnodysostosis |
|
Carious teeth, Spondylolysis, Micrognathia, Delayed eruption of permanent teeth, Osteolytic defec... |
OMIM:265800 |
Richieri Costa-Da Silva Syndrome |
|
Generalized bone demineralization, Vertebral wedging, Beaking of vertebral bodies, Kyphoscoliosis... |
ORPHA:3101 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Mandibular prognathia, Diaphyseal sclerosis, Craniofacial hyperostosis, Cortical ... |
OMIM:122860 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Osteoporosis, Platyspondyly, Albinism, Kyphosis, Hypopigmentation of hair |
ORPHA:2786 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Onychogryposis of fingernail, Fingernail dysplasia, Alopecia, Ridged fingernail, Sparse hair |
ORPHA:2251 |
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
Kyphoscoliosis, High palate, Enamel hypoplasia |
OMIM:600991 |
Staphylococcal Necrotizing Pneumonia |
|
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Pulm... |
ORPHA:36238 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneum... |
ORPHA:2590 |
Neuralgic Amyotrophy |
|
Scapular winging, Sprengel anomaly, Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Vertebral fusion, Pectus carinatum, Hemivertebrae, Posterior rib fusion, Mis... |
OMIM:122600 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Carious teeth, Postaxial polydactyly, Short metatarsal, Limb undergrowth, Short thorax, Sandal ga... |
OMIM:617102 |
Split-Hand/Foot Malformation 3 |
|
Renal hypoplasia, Nail dystrophy, Split hand, Camptodactyly, Hypoplasia of the maxilla, Microretr... |
OMIM:246560 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Pectus excavatum, Micrognathia, Abnormal clavicle morphology, Kyphosis, Fused cervical vertebrae,... |
ORPHA:2522 |
Idiopathic Pulmonary Hemosiderosis |
|
Restrictive ventilatory defect, Crackles, Ground-glass opacification, Cough, Respiratory failure,... |
ORPHA:99931 |
Cholesterol Pneumonia |
|
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis |
OMIM:215030 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Distal arthrogryposis, Ankle flexion contracture, Micrognathia, Hip contracture, Pulmonary hypopl... |
OMIM:617468 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Thoracic hypoplasia, Micrognathia, Pulmonary hypoplasia, Bowing of the long bones, Neonatal death... |
OMIM:224410 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the vertebral column, Cleft soft palate, Kyphoscoliosis, Platyspondyly, Scoliosis |
ORPHA:93316 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Micrognathia, Abnormal clavicle morphology, Rhizomelia, Platyspondyly, Decreased skull ossificati... |
ORPHA:93267 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Kyphoscoliosis |
OMIM:605588 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Renal hypoplasia, Multiple glomerular cysts, Renal cyst, Nephrolithiasis, Glycosuria... |
OMIM:137920 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
Osteolysis Syndrome, Recessive |
|
Distal radial epiphyseal osteolysis, Osteolytic defects of the middle phalanges of the hand, Meta... |
OMIM:259610 |
Thoracic Dysostosis, Isolated |
|
Bell-shaped thorax, Pectus excavatum, Recurrent respiratory infections, Short ribs |
OMIM:187750 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia |
OMIM:619057 |
Rothmund-Thomson Syndrome, Type 1 |
|
Thin nail, Nail dystrophy, Absent eyebrow, Absent eyelashes, Sparse hair |
OMIM:618625 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Sparse axillary hair, Sparse pubic hair |
OMIM:146110 |
Restrictive Dermopathy |
|
Thoracic kyphoscoliosis, Increased anterioposterior diameter of thorax, Thin clavicles, Micrognat... |
ORPHA:1662 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Micrognathia, Abnormal cortical bone morphology, Sprengel anoma... |
ORPHA:2097 |
Spondylospinal Thoracic Dysostosis |
|
Micrognathia, Short thorax, Arthrogryposis multiplex congenita, Hypoplasia of the maxilla, Pulmon... |
OMIM:601809 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Brittle hair, Curly hair, Pili torti, Sparse and thin eyebrow, Sparse hair |
OMIM:602400 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress, Limitation of joint mobility |
ORPHA:2680 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... |
ORPHA:174 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hirsutism, Low posterior hairline, Recurrent respiratory infections, Nephrotic syndrome, Pectus c... |
OMIM:617303 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Recurrent bronchitis, Bronchiectasis, Chronic rhinitis, Ciliary dyskinesia, Chronic si... |
OMIM:244400 |
Monosomy 18P |
|
Carious teeth, Hypodontia, Cleft palate, Short philtrum, Kyphoscoliosis, Alopecia, Tooth malposit... |
ORPHA:1598 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Thoracic hypoplasia, Hydronephrosis, Micrognathia, Adducted thumb, Decreased fibular... |
OMIM:616897 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Respiratory distress, Abnormal renal corticomedullary differentiation, Flexion c... |
OMIM:616733 |
Intermediate Nemaline Myopathy |
|
Arthrogryposis multiplex congenita, Multiple prenatal fractures, Abnormal thorax morphology, Flex... |
ORPHA:171433 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Hypospadias, Micrognathia, Malar flattening, Renal cyst, Short sternum, Micropenis, Nephroblastoma |
OMIM:257300 |
Mucopolysaccharidosis, Type Iiic |
|
Ovoid thoracolumbar vertebrae, Hirsutism, Kyphoscoliosis, Coarse hair, Dense calvaria, Everted lo... |
OMIM:252930 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hypospadias, Neonatal respiratory distress, Short greater sciatic notch, Short nail, Broad toe, S... |
OMIM:312870 |
Achondrogenesis, Type Ib |
|
Absent or minimally ossified vertebral bodies, Respiratory insufficiency, Malar flattening, Still... |
OMIM:600972 |
Fetal Akinesia Deformation Sequence 1 |
|
Thoracic hypoplasia, Micrognathia, Elbow ankylosis, Thin ribs, Stillbirth, Arthrogryposis multipl... |
OMIM:208150 |
Chondrodysplasia, Blomstrand Type |
|
Micrognathia, Generalized osteosclerosis, Malar flattening, Stillbirth, Short ribs, Advanced ossi... |
OMIM:215045 |
Scholte Syndrome |
|
Kyphoscoliosis, Everted lower lip vermilion |
OMIM:300977 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Short ribs, Syndactyly, Sparse hair, Short long bone, Flat acetabular roof, Fine hai... |
OMIM:614091 |
Fryns Syndrome |
|
Thoracic hypoplasia, Microretrognathia, Thin ribs, Stillbirth, Joint contracture of the hand, Sho... |
OMIM:229850 |
Mucopolysaccharidosis, Type Iva |
|
Carious teeth, Cervical subluxation, Mandibular prognathia, Osteoporosis, Platyspondyly, Prominen... |
OMIM:253000 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Long clavicles, Micrognathia, Thin ribs, Coarse hair, Fused cervical vertebrae, Respiratory distr... |
ORPHA:83617 |
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy |
|
Anterior cervical hypertrichosis |
OMIM:239840 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Fine hair, Oligodontia, Abnormal vertebral morphology, Kyphoscoliosis, Downturned corners of mout... |
OMIM:616817 |
Mucopolysaccharidosis, Type Ivb |
|
Carious teeth, Cervical subluxation, Mandibular prognathia, Osteoporosis, Platyspondyly, Prominen... |
OMIM:253010 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, High palate, Epiphyseal stippling, Anterior rib punctate calcifications, Spinal... |
ORPHA:35173 |
Intermediate Osteopetrosis |
|
Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Generalized osteosc... |
ORPHA:210110 |
Acute Lung Injury |
|
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Abnormal pulmonary interstitial morphology... |
ORPHA:178320 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short 5th metacarpal, Short middle phalanx of the 5th finger, Osteoporosis... |
OMIM:156510 |
Coffin-Siris Syndrome 1 |
|
Hypospadias, Delayed eruption of teeth, Cutis marmorata, Ectopic kidney, Recurrent respiratory in... |
OMIM:135900 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Biconcave vertebral bodies, High palate, Brittle hair, Osteoporosis, Kyphoscoliosis, Limitation o... |
OMIM:236200 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Fine hair, Short philtrum, Low anterior hairline, Oligodontia, Long philtrum, Synophrys, Kyphosco... |
ORPHA:391408 |
Hawkinsinuria |
|
Fine hair, Sparse hair |
ORPHA:2118 |
Cooper-Jabs Syndrome |
|
Respiratory insufficiency, Malar flattening, Missing ribs, Reduced bone mineral density, Abnormal... |
ORPHA:1488 |
Roussy-Lévy Syndrome |
|
Kyphoscoliosis, Scoliosis |
ORPHA:3115 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Achilles tendon contracture, Kyphoscoliosis |
ORPHA:370980 |
Charcot-Marie-Tooth Disease Type 1A |
|
Kyphoscoliosis |
ORPHA:101081 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Intercostal muscle weakness, Respiratory insufficiency, Pulmonary arterial hypertension, Recurren... |
ORPHA:258 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Kyphoscoliosis |
OMIM:607831 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Ankle flexion contracture, Micrognathia, Hip contracture, Rocker bottom foot, Respiratory insuffi... |
ORPHA:1143 |
Pseudopelade Of Brocq |
|
Abnormal hair morphology, Alopecia, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasi... |
ORPHA:129 |
Joint Laxity, Short Stature, And Myopia |
|
Short neck, Kyphoscoliosis, Osteopenia |
OMIM:617662 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Lung abscess, Pneumonia, Cough, Clubbing, Cyanosis, Recurrent respiratory infections, ... |
OMIM:610910 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Kyphoscoliosis, Scoliosis, Tongue fasciculations |
OMIM:614707 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Broad hallux phalanx, Micrognathia, Abnormal hair ... |
ORPHA:3082 |
Meier-Gorlin Syndrome 3 |
|
Hypospadias, Aplasia/Hypoplasia of the patella, Genu varum, Microretrognathia, Micrognathia, Spar... |
OMIM:613803 |
Schwartz-Jampel Syndrome, Type 1 |
|
Long eyelashes in irregular rows, Shoulder flexion contracture, Hip contracture, Flexion contract... |
OMIM:255800 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Onychogry... |
OMIM:601375 |
Waardenburg Syndrome Type 3 |
|
White hair, Synostosis of carpal bones, Thick eyebrow, Camptodactyly of finger, Joint stiffness, ... |
ORPHA:896 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Respiratory insufficiency, Rib segmentation abnormalitie... |
ORPHA:2311 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/hypoplasia of the humerus, Abnormality of femur morphology, Abnormal scapula morphology, ... |
ORPHA:2141 |
Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Whistling appearance, Joint contracture of the hand, Camptodactyly, Elbow flexio... |
OMIM:193700 |
Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Osteoporosis, Vertebral compression fracture, Kyphosis |
ORPHA:85193 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Tarsal synostosis, Spinal canal stenosis, Hypodontia, Dens in dente, Vertebral fusion, Hemiverteb... |
OMIM:263540 |
Pili Torti-Onychodysplasia Syndrome |
|
Nail dystrophy, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Congenital onychodystro... |
ORPHA:2890 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Alopecia of scalp, Kyphoscoliosis, Back pain, Localized osteoporosis, Cervical spondylosis |
ORPHA:199354 |
Cleidocranial Dysplasia |
|
Sinusitis, Carious teeth, Dystrophic toenail, Abnormal dental enamel morphology, Delayed eruption... |
ORPHA:1452 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Hemosiderin-laden macrophages in bronchoalveolar fluid, Tachypnea, Cough, Pulmonary hemorrhage, A... |
OMIM:616414 |
Seckel Syndrome 8 |
|
Kyphoscoliosis |
OMIM:615807 |
Mosaic Trisomy 14 |
|
Micrognathia, Narrow chest, Abnormal rib morphology, Camptodactyly of finger, Short neck |
ORPHA:1703 |
Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
Tetraamelia-Multiple Malformations Syndrome |
|
Tracheal stenosis, Micrognathia, Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Missing... |
ORPHA:3301 |
Björnstad Syndrome |
|
Brittle hair, Alopecia |
ORPHA:123 |
Pontocerebellar Hypoplasia, Type 10 |
|
Highly arched eyebrow, High palate, Kyphoscoliosis, Long eyelashes, Thin upper lip vermilion |
OMIM:615803 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Upper limb undergrowth, Pectus carinatum, Short metatarsal, Osteoporosis, Platyspondyly, Synostos... |
ORPHA:93351 |
Sprengel Deformity |
|
Cervical segmentation defect, Hemivertebrae, Rib segmentation abnormalities, Sprengel anomaly, Sp... |
OMIM:184400 |
Pulmonary Alveolar Microlithiasis |
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Pleural thickening, Exertional dyspnea, Restrictive ventilatory defect, Calcium nephrolithiasis, ... |
ORPHA:60025 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair |
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Sparse eyelashes, Sparse hair, Sparse eyebrow, Hypoplastic toenails |
OMIM:616901 |