Boomerang Dysplasia |
|
Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,... |
ORPHA:1263 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru... |
ORPHA:2141 |
Tricuspid Atresia |
|
Atrial septal defect, Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Coarcta... |
ORPHA:1209 |
Osseous Heteroplasia, Progressive |
|
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue |
OMIM:166350 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Syndactyly, Toe syndactyly, Anteverted nares, Congenital diaphragmatic hernia, Pulmo... |
OMIM:601163 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Micrognathia, Abn... |
ORPHA:93267 |
Fetal Encasement Syndrome |
|
Omphalocele, Bilateral trilobed lung, Tetralogy of Fallot, Congenital diaphragmatic hernia |
OMIM:613630 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hyp... |
OMIM:228520 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
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Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia... |
ORPHA:3035 |
Achondrogenesis Type 1A |
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Multiple rib fractures, Anteverted nares, Recurrent fractures, Micromelia, Micrognathia, Abnormal... |
ORPHA:93299 |
Achondrogenesis Type 1B |
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Anteverted nares, Femoral hernia, Micromelia, Micrognathia, Abnormal enchondral ossification, Abn... |
ORPHA:93298 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Underdeveloped nasal a... |
OMIM:263210 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Cardiac Valvular Dysplasia 1 |
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Atrial septal defect, Inguinal hernia, Cyanosis, Ventricular septal defect, Left atrial enlargeme... |
OMIM:212093 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
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Omphalocele, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring... |
OMIM:601927 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death |
OMIM:620203 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
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Micromelia, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, L... |
OMIM:118651 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
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Overriding aorta, Cyanosis, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial s... |
ORPHA:3304 |
Achondrogenesis |
|
Inguinal hernia, Anteverted nares, Micromelia, Micrognathia, Abnormal enchondral ossification, Ap... |
ORPHA:932 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
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Osteopenia, Hip contracture, Death in infancy, Toe syndactyly, Depressed nasal bridge, Anteverted... |
OMIM:616809 |
Pseudodiastrophic Dysplasia |
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Talipes equinovarus, Omphalocele, Rhizomelia, Phalangeal dislocation |
ORPHA:85174 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Levotransposition of the great arteries, Cyanosis, Ventricular septal defect, Abnormal pulmonary ... |
ORPHA:860 |
Melnick-Needles Syndrome |
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Omphalocele, Recurrent respiratory infections, Bowing of the long bones, Craniofacial hyperostosi... |
ORPHA:2484 |
Miller-Dieker Syndrome |
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Clinodactyly of the 5th finger, Omphalocele, Short nose, Anteverted nares |
ORPHA:531 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal met... |
ORPHA:2370 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
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11 pairs of ribs, Rhizomelia, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of ... |
OMIM:300863 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... |
OMIM:311300 |
Metatropic Dysplasia |
|
Depressed nasal bridge, Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Jo... |
ORPHA:2635 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Recurrent respiratory infections, Delayed epiphyseal ossification, Osteoarthritis, Small hand, Co... |
OMIM:618618 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteverted nares, Metaphyseal widen... |
OMIM:618961 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Micromelia, Hypoplastic i... |
OMIM:617895 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Abnormal shoulder morphology, Mesomelia, Hernia of the abdominal wall, Convex nasal... |
ORPHA:1277 |
Interstitial Pneumonitis, Desquamative, Familial |
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Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recurrent upper ... |
OMIM:263000 |
Fetal Valproate Spectrum Disorder |
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Omphalocele, Short nose, Depressed nasal ridge |
ORPHA:1906 |
C Syndrome |
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Omphalocele, Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Anteverted nar... |
OMIM:211750 |
Chondrodysplasia, Blomstrand Type |
|
Depressed nasal bridge, Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones... |
OMIM:215045 |
Trigonocephaly 1 |
|
Omphalocele, Short nose, Wide nasal bridge, Craniosynostosis |
OMIM:190440 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Overriding aorta, Ventricular septal defect, Cardiomegaly, Pulmonary hypoplasia, Int... |
OMIM:617022 |
Diabetes Insipidus, Neurohypophyseal |
|
Osteopenia, Wide nose, Short nose |
OMIM:125700 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Depressed nasal bridge, Sandal gap, Micromelia, Micrognathia, Bifid humerus, La... |
OMIM:256050 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
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Omphalocele, Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, P... |
OMIM:618316 |
Distal Duplication 15Q |
|
Omphalocele, Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Joint stiffness, Mi... |
ORPHA:1707 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Robinow Syndrome, Autosomal Recessive 2 |
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Ventral hernia, Omphalocele, Anteverted nares, Broad hallux, Sandal gap, Broad nasal tip, Microgn... |
OMIM:618529 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Micromelia, Microgna... |
ORPHA:93329 |
Acromicric Dysplasia |
|
Short metacarpal, Anteverted nares, Joint stiffness, Bulbous nose, Small hand, Abnormal femur mor... |
ORPHA:969 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbo... |
OMIM:614078 |
Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Camptodactyly of fin... |
ORPHA:2021 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Broad-based gait, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal he... |
ORPHA:477817 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Diastasis recti, Microgna... |
OMIM:608149 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph... |
ORPHA:93351 |
Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele, Wide nasal bridge |
ORPHA:3366 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal limb bone morphology, Aplasia/Hypoplasia of the lungs, L... |
ORPHA:2204 |
Acalvaria |
|
Omphalocele, Abnormal lung lobation |
ORPHA:945 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Osteoarthritis, Arthralgia of the hip, Abnormality of ... |
ORPHA:166002 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Depressed nasal bridge, Anteverted nares, Sagittal craniosynostosis, Micrognathia, S... |
OMIM:145420 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Death in infancy, Muscular ventricular septal defect, Di... |
OMIM:619371 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Depressed nasal bridge, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia,... |
OMIM:151210 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Small hand, Short foot, Short 5th finger, Clinodactyly, Short nose |
OMIM:300577 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L... |
ORPHA:1423 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Muscular ... |
OMIM:115197 |
Odontochondrodysplasia |
|
Death in infancy, Bowing of the long bones, Depressed nasal bridge, Micromelia, Coxa valga, Cone-... |
ORPHA:166272 |
Birk-Aharoni Syndrome |
|
Inability to walk, Cryptorchidism, Muscular ventricular septal defect |
OMIM:620071 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atri... |
OMIM:616749 |
Rhiny |
|
Short nose, Anteverted nares, Inguinal hernia |
OMIM:180360 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Inguinal hernia, Flexion contracture, Hip dysplasia, Short nose |
OMIM:618379 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... |
OMIM:200600 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... |
ORPHA:1426 |
Achondrogenesis, Type Ib |
|
Inguinal hernia, Micromelia, Hypoplastic ilia, Stillbirth, Short ribs, Absent or minimally ossifi... |
OMIM:600972 |
17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, Clinodactyly of the 5th finger, Short... |
ORPHA:217340 |
Asbestos Intoxication |
|
Cyanosis, Atelectasis, Pleural thickening, Cor pulmonale, Abnormal pulmonary interstitial morphol... |
ORPHA:2302 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Clinodactyly of the 5th finger, ... |
OMIM:201000 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Snail-like ilia, Flat acet... |
OMIM:269250 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Wide nose, Depressed nasal bridge, Anteverted nares, Iliac crest serration, Mic... |
OMIM:613320 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Micrognathia, Joint sti... |
ORPHA:1801 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... |
ORPHA:93296 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Atrial septal defect, Cyanosis, Ventricular septal defect, Pate... |
ORPHA:99050 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Wide anterior fontanel, Umbilical hernia, Depressed nasal bridge |
OMIM:275100 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le... |
OMIM:249710 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Omphalocele, Rhizomelia, Postaxial polydactyly, Prominent nose, Horizontal rib... |
OMIM:616300 |
Odontochondrodysplasia 1 |
|
Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Death in infancy, Short me... |
OMIM:184260 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Death in infancy |
OMIM:258320 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Abnormal lung lobation, Mesomelia, Abnormal ep... |
ORPHA:2631 |
Ruvalcaba Syndrome |
|
Short metacarpal, Inguinal hernia, Micromelia, Underdeveloped nasal alae, Cryptorchidism, Limited... |
OMIM:180870 |
Diastrophic Dysplasia |
|
Recurrent respiratory infections, Bowing of the long bones, Increased bone mineral density, Depre... |
ORPHA:628 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Abnormal rib morpholog... |
ORPHA:2145 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos... |
ORPHA:90652 |
Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Umbilical hernia, Muscular ventricular septal defect, Inguinal hernia |
OMIM:618354 |
Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Micromelia |
ORPHA:85175 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ... |
OMIM:601612 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Hypoxemia, Atrial septal defect, Pate... |
ORPHA:439 |
Omphalocele |
|
Omphalocele |
ORPHA:660 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Limitation of joint mobility, Coxa vara, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Inguinal hernia, Scarring, Depressed nasal bridge, Osteomalacia, Abnormality of subcu... |
ORPHA:1901 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Intrauterine growth retardation, Patent ductus arteriosus, Overriding aorta, Ventricular septal d... |
OMIM:617021 |
Donnai-Barrow Syndrome |
|
Omphalocele, Depressed nasal bridge, Congenital diaphragmatic hernia, Wide anterior fontanel, Umb... |
ORPHA:2143 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Abnorma... |
ORPHA:2639 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Multiple rib fractures, Short femur, Anteverted nares, Fractured radius, Decreased fi... |
OMIM:616897 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Ollier Disease |
|
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... |
ORPHA:296 |
Sandestig-Stefanova Syndrome |
|
Intrauterine growth retardation, Muscular ventricular septal defect, Perimembranous ventricular s... |
OMIM:618804 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Joint laxity, Inguinal hernia, Omphalocele, Depressed nasal bridge, Anteverted nares, O... |
ORPHA:254528 |
Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... |
OMIM:300244 |
Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... |
ORPHA:1240 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... |
ORPHA:93323 |
Kniest Dysplasia |
|
Hip contracture, Inguinal hernia, Depressed nasal bridge, Rhizomelia, Dumbbell-shaped long bone, ... |
OMIM:156550 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Limitation of joint mobility, Symphalangism affecting the ph... |
ORPHA:2741 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Acrocephalopolydactyly |
|
Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose, Brachydactyly |
ORPHA:221054 |
Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Pericar... |
ORPHA:79126 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis, Short metatarsal, ... |
OMIM:251450 |
Congenital Pulmonary Lymphangiectasia |
|
Pleural effusion, Cyanosis, Pulmonic stenosis, Chylopericardium |
ORPHA:2414 |
Chromosome 10Q26 Deletion Syndrome |
|
Omphalocele, Congenital hip dislocation, Toe syndactyly, Sandal gap, Craniosynostosis, Prominent ... |
OMIM:609625 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Enlargement of the ... |
OMIM:600081 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology, Intrauterine growt... |
ORPHA:1110 |
Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Micrognathia, Cryptorchidism, Joint hyperflexibility, Short nose, Convex ... |
ORPHA:1695 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Hydrocele testis, Muscular ventricular septal defect |
OMIM:620062 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hypoplastic left atri... |
OMIM:615524 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... |
OMIM:608728 |
Thoracomelic Dysplasia |
|
Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Abnormal pelvic girdle bone morp... |
ORPHA:1803 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... |
ORPHA:1350 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Short nose, Anteverted nares, Micrognathia |
ORPHA:2015 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Depressed nasal bridge, Anteverted nares, Coxa valga, Micrognathi... |
ORPHA:163649 |
Mosaic Trisomy 1 |
|
Congenital diaphragmatic hernia, Finger clinodactyly, Pulmonary artery atresia, Absent distal int... |
ORPHA:1692 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... |
OMIM:166210 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Death in infancy, Pericardial effusion, Multiple muscular ventricular septal defects, Atrial sept... |
OMIM:620070 |
Fibrochondrogenesis 2 |
|
Anteverted nares, Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal wi... |
OMIM:614524 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return,... |
OMIM:617478 |
Double Outlet Right Ventricle |
|
Cyanosis, Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypopla... |
ORPHA:3426 |
Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Anteverted nares, De... |
ORPHA:950 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Cyanosis, Dextrocardia, Secundum atrial septal defect, Pneumoth... |
ORPHA:2257 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Short femur, Micrognathia, Cryptorchidism, Abnormal rib morphology, Rib fusion, ... |
ORPHA:1988 |
Congenital Heart Block |
|
Cyanosis, Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Intrauterin... |
ORPHA:60041 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Death in infancy, Nonspecific interstitial pneumonia, Crazy paving pattern, Cyanosis, Nodular pat... |
OMIM:610921 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Omphalocele, Abnormal hand morphology, Osteolysis involving bones of the upper limbs,... |
ORPHA:371428 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Recurrent respiratory infections, Death in infancy, Ventricular septal defect, Conge... |
OMIM:243150 |
Perching Syndrome |
|
Joint contracture, Cyanosis, Camptodactyly |
OMIM:617055 |
Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Transposi... |
OMIM:313850 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Neon... |
OMIM:265380 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Ventricular septal defect, Diastasis recti, Abnormal heart morphology, Umbilical hernia |
ORPHA:254534 |
Glutamine Deficiency, Congenital |
|
Recurrent respiratory infections, Depressed nasal bridge, Anteverted nares, Micromelia, Flexion c... |
OMIM:610015 |
Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Abnormal dental enamel morphology, Sp... |
ORPHA:2092 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Epiphyseal stippling, Short nose, Short nasal septum, Short dist... |
OMIM:302950 |
Bone Dysplasia, Lethal Holmgren Type |
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Metaphyseal dysplasia, Recurrent respiratory infections, Anteverted nares, Rhizomelia, Micromelia... |
ORPHA:1842 |
Trisomy 1Q |
|
Microretrognathia, Omphalocele, Wide nose, Toe syndactyly, Arachnodactyly, Depressed nasal bridge... |
ORPHA:261344 |
Omphalocele, X-Linked |
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Omphalocele |
OMIM:310980 |
Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
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Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Craniosynostosis... |
OMIM:614732 |
Opsismodysplasia |
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Recurrent respiratory infections, Abnormally ossified vertebrae, Depressed nasal bridge, Tapered ... |
ORPHA:2746 |
Pallister-Hall-Like Syndrome |
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Death in infancy, Toe syndactyly, Depressed nasal bridge, Micromelia, Micrognathia, Postaxial han... |
OMIM:241800 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Proximal femoral metaphyseal irregularity, Coxa ... |
ORPHA:168549 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
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Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Craniosynosto... |
ORPHA:171839 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Inguinal hernia, Hypoplastic scapulae, Bowing of the legs, Atelectasis, Short toe, S... |
OMIM:269860 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
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Death in infancy, Cyanosis, Desquamative interstitial pneumonitis, Intraalveolar phospholipid acc... |
OMIM:265120 |
Developmental And Epileptic Encephalopathy 89 |
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Microretrognathia, Omphalocele, Depressed nasal bridge, Anteverted nares, Flexion contracture, Wi... |
OMIM:619124 |
Chromosome 6Q11-Q14 Deletion Syndrome |
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Joint laxity, Inguinal hernia, Prominent nasal bridge, Micrognathia, Broad nasal tip, Bilateral c... |
OMIM:613544 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Double Outlet Left Ventricle |
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Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours... |
ORPHA:3427 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
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Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly |
OMIM:611263 |
Venular Insufficiency, Systemic |
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Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
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Cyanosis |
OMIM:185460 |
Pentalogy Of Cantrell |
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Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic... |
ORPHA:1335 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
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Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Cr... |
ORPHA:1865 |
Acromesomelic Dysplasia, Grebe Type |
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Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
Ring Chromosome 8 Syndrome |
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Deviation of finger, Short nose, Anteverted nares |
ORPHA:1450 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
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Omphalocele, Preaxial hand polydactyly, Cervical ribs, Talipes equinovarus, Prune belly |
OMIM:601389 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
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Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the... |
OMIM:609616 |
Methemoglobinemia, Beta Type |
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Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
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Cyanosis |
OMIM:617973 |
Acromesomelic Dysplasia, Maroteaux Type |
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Bowing of the long bones, Depressed nasal bridge, Joint stiffness, Joint hyperflexibility, Acrome... |
ORPHA:40 |
Rhizomelic Chondrodysplasia Punctata |
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Rhizomelia, Limitation of joint mobility, Epiphyseal stippling, Abnormal epiphysis morphology, Li... |
ORPHA:177 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
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Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,... |
ORPHA:163966 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Beaded ribs, Patchy variation in bone mine... |
OMIM:215140 |
Codas Syndrome |
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Omphalocele, Short humerus, Short metacarpal, Congenital hip dislocation, Depressed nasal bridge,... |
OMIM:600373 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
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Hypertrophic cardiomyopathy, Cyanosis |
ORPHA:91130 |
17P13.3 Microduplication Syndrome |
|
Wide nose, Congenital hip dislocation, Inguinal hernia, Clinodactyly of the 5th finger, Short nose |
ORPHA:217385 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Enlargement of the ... |
OMIM:241530 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
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Short humerus, Short metacarpal, Wide nose, Rhizomelia, Depressed nasal ridge, Coxa vara, Genu va... |
ORPHA:2831 |
Vitamin D-Dependent Rickets, Type 2A |
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Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... |
OMIM:277440 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
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Death in infancy, Camptodactyly of finger, Micrognathia, Recurrent pneumonia, Short nose |
ORPHA:1495 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
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Choreoathetosis, Lethargy, Cyanosis, Ataxia |
ORPHA:71277 |
Infant Acute Respiratory Distress Syndrome |
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Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Hypoxemia, Pulmonary edema |
ORPHA:70587 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormal femur mo... |
ORPHA:429 |
X-Linked Hypophosphatemia |
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Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... |
ORPHA:89936 |
Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Micromelia, Craniosynostosis, Postaxial hand polydactyly, Pulmonary hypoplasia, Extr... |
OMIM:200995 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Hypoplastic cervical ve... |
ORPHA:56304 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
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Omphalocele, Ventricular septal defect |
OMIM:601357 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Micrognathia, Flexion contracture, Tibial bowing, Hypoplastic iliac wing, Small proximal tibial e... |
ORPHA:96334 |
Jeune Syndrome |
|
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Abnormal rib morphology, Postaxial foot p... |
ORPHA:474 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Broad-based gait |
OMIM:614450 |
Ruvalcaba Syndrome |
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Short metacarpal, Brachydactyly, Inguinal hernia, Proximal placement of thumb, Micromelia, Crypto... |
ORPHA:3121 |
Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricusp... |
ORPHA:555874 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
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Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Perimemb... |
ORPHA:363444 |
Maxillonasal Dysplasia, Binder Type |
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Short nose, Short columella, Depressed nasal bridge, Short distal phalanx of finger |
OMIM:155050 |
Metaphyseal Anadysplasia 2 |
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Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Marshall-Smith Syndrome |
|
Large sternal ossification centers, Bilateral cryptorchidism, Distal widening of metacarpals, Cox... |
OMIM:602535 |
Mesomelia-Synostoses Syndrome |
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Brachydactyly, Micromelia, Micrognathia, Abnormality of the humerus, Joint stiffness, Bulbous nos... |
ORPHA:2496 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Donnai-Barrow Syndrome |
|
Omphalocele, Depressed nasal bridge, Congenital diaphragmatic hernia, Broad nasal tip, Wide anter... |
OMIM:222448 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, Short metaca... |
OMIM:108720 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera... |
OMIM:307800 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Inguinal hernia... |
OMIM:608022 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shaped distal pha... |
OMIM:271665 |
Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Central cyanosis, Ascending tubular aorta aneurysm, Pulmonic stenosis, Sub... |
OMIM:620067 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, M... |
OMIM:618454 |
Acrodysostosis 2 With Or Without Hormone Resistance |
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Short metacarpal, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Short metatarsal, Adv... |
OMIM:614613 |
Coxoauricular Syndrome |
|
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... |
ORPHA:1508 |
Achondroplasia |
|
Depressed nasal bridge, Anteverted nares, Rhizomelia, Hip joint hypermobility, Bowing of the legs... |
ORPHA:15 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Cyanosis, Abnormal coronary artery morphology, Cardiomegaly, Pa... |
ORPHA:980 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... |
OMIM:264700 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Inguinal hernia, Mic... |
OMIM:613848 |
Sotos Syndrome |
|
Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Patent ductus arte... |
OMIM:117550 |
Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Inguinal hernia, Anteverted nares, Micrognathia, Cryptorchidism, Abnormality of the ... |
OMIM:247200 |
Right Atrial Isomerism |
|
Atrial septal defect, Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextroc... |
OMIM:208530 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Atelectasis, Acrocyanosis, Camptodactyly of finger |
ORPHA:896 |
Alg12-Cdg |
|
Recurrent respiratory infections, Recurrent pharyngitis, Muscular ventricular septal defect, Recu... |
ORPHA:79324 |
Criss-Cross Heart |
|
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pul... |
ORPHA:1461 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Joint laxity, Limited elbow extension and supination, Brachydactyly, Prominent nasal bridge, Shor... |
ORPHA:401935 |
Chung-Jansen Syndrome |
|
Anteverted nares, Tapered finger, Micrognathia, Cryptorchidism, Hip dysplasia, Clinodactyly of th... |
OMIM:617991 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, ... |
OMIM:616894 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Depressed nasal bridge, ... |
ORPHA:1427 |
Congenital Heart Defects, Multiple Types, 9 |
|
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r... |
OMIM:620294 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Dilated Cardiomyopathy With Ataxia |
|
Ataxia, Bilateral cryptorchidism, Muscular ventricular septal defect, Dilated cardiomyopathy, Int... |
ORPHA:66634 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Anteverted nares, Micromelia, Genu valgum, Joint hyperflexibility, Um... |
ORPHA:1035 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Scimitar Syndrome |
|
Abnormal lung morphology, Pulmonary artery hypoplasia, Hernia, Atrial septal defect, Single ventr... |
ORPHA:185 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Wide nose, Coxa valga, Metatarsus adductus, Avascular necrosis of the cap... |
ORPHA:2557 |
Alg9-Cdg |
|
Micrognathia, Abnormal lung lobation, Narrow greater sciatic notch, Abnormal bone ossification, M... |
ORPHA:79328 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Depressed nasal bridge, Anteverted nares, Aplastic cl... |
ORPHA:50945 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Short nose, Anteverted nares |
ORPHA:1355 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Congenital diaphragmatic hernia, Missing ribs, Micrognathia, Abnormal rib morphology... |
ORPHA:1834 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Coxa vara, Limb und... |
OMIM:602557 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Depressed... |
ORPHA:1529 |
Chromosome 9P Deletion Syndrome |
|
Long toe, Omphalocele, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Choanal atresia... |
OMIM:158170 |
Pagod Syndrome |
|
Omphalocele, Death in infancy, Congenital diaphragmatic hernia, Situs inversus totalis, Pulmonary... |
ORPHA:991 |
Vitamin K Antagonist Embryofetopathy |
|
Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Epiphyseal stippling, S... |
ORPHA:1914 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Micrognathia, Cryptorchidism, Unilambdoid synostosis, Wide nasal bridge, Clinod... |
OMIM:618577 |
Congenital Tracheomalacia |
|
Cyanosis, Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Pneumotho... |
ORPHA:95430 |
Vacterl/Vater Association |
|
Omphalocele, Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the lungs, Ab... |
ORPHA:887 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... |
ORPHA:93284 |
Triploidy |
|
Omphalocele, Finger syndactyly, Micrognathia, Cryptorchidism, Decreased skull ossification |
ORPHA:3376 |
Fryns Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal aortic arch morphology, Ab... |
ORPHA:2059 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Microretrognathia, Bowing of the long bones, Osteopenia, Rhizomelia, Recurrent... |
OMIM:616229 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... |
OMIM:300554 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia, Metaphyseal widening, C... |
OMIM:255800 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... |
ORPHA:3258 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Genu valgum, Abnormal adipo... |
ORPHA:93160 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... |
OMIM:304120 |
Schisis Association |
|
Omphalocele, Congenital diaphragmatic hernia, Micromelia |
ORPHA:63862 |
14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Micrognathia, Toe clinodactyly, Short nose |
ORPHA:261120 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary... |
ORPHA:199241 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... |
ORPHA:457395 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Anterior rib cupping, Hypoplasia of t... |
OMIM:184250 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Limb undergrowth, Limited elbow extension, Bowing of the legs |
ORPHA:156728 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Multiple muscular ventricular septal defects, Pulmonic stenosis |
OMIM:615508 |
Microcephaly-Micromelia Syndrome |
|
Wide nose, Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial syno... |
OMIM:251230 |
Constricting Bands, Congenital |
|
Omphalocele, Abnormal lung lobation, Gastroschisis, Ectopia cordis, Bladder exstrophy |
OMIM:217100 |
Meacham Syndrome |
|
Bicuspid aortic valve, Death in childhood, Atrial septal defect, Scimitar anomaly, Neonatal death... |
OMIM:608978 |
Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Paranasal sinus hypoplasia, Arachnodactyly, Tracheomalacia, Micrognathia, Osteopathi... |
OMIM:300373 |
Cutis Laxa-Marfanoid Syndrome |
|
Arachnodactyly, Congenital diaphragmatic hernia, Flexion contracture, Limitation of joint mobilit... |
ORPHA:171719 |
Legg-Calvé-Perthes Disease |
|
Cartilage destruction |
ORPHA:2380 |
Melnick-Needles Syndrome |
|
Omphalocele, Short humerus, Recurrent respiratory infections, Hypoplastic scapulae, Coxa valga, M... |
OMIM:309350 |
Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Micrognathia, Depressed nasal ridge, Mandibular aplasia, Short nose |
ORPHA:1832 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Pde4D Haploinsufficiency Syndrome |
|
Prominent nose, Micrognathia, Short metatarsal, Bilateral coxa valga, Short phalanx of finger, Br... |
ORPHA:439822 |
Hypophosphatasia, Infantile |
|
Recurrent respiratory infections, Death in infancy, Micromelia, Bowing of the legs, Craniosynosto... |
OMIM:241500 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis, Abnormal epiphysis morphology, Micromelia |
ORPHA:93283 |
Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Abnormal cartilage matrix, Pulmonary hypoplasia, Neonatal death |
OMIM:245650 |
Osteoglophonic Dysplasia |
|
Osteopenia, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad metacar... |
OMIM:166250 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi... |
ORPHA:2019 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... |
ORPHA:93258 |
Distal Duplication 18Q |
|
Anteverted nares, Prominent nasal bridge, Choanal atresia, Arachnodactyly, Camptodactyly of finge... |
ORPHA:1716 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Diastasis recti, Microgna... |
ORPHA:254519 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte... |
OMIM:617201 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, H... |
ORPHA:2249 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Opitz Gbbb Syndrome |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptor... |
ORPHA:2745 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Cyanosis, Intralobular septal thick... |
OMIM:610913 |
Osteoglosphonic Dysplasia |
|
Inguinal hernia, Rhizomelia, Anteverted nares, Choanal atresia, Micrognathia, Craniosynostosis, C... |
ORPHA:2645 |
Pierpont Syndrome |
|
Wide nose, Broad nasal tip, Cryptorchidism, Short toe, Short foot, Short finger, Short palm, Prom... |
OMIM:602342 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode |
OMIM:610992 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Micromelia, Cryptorchidism, Abnormal rib morphology, Joint hyperflexibility,... |
ORPHA:2772 |
Hall-Riggs Syndrome |
|
Anteverted nares, Abnormal dental enamel morphology, Prominent nose, Joint stiffness, Wide nasal ... |
ORPHA:2107 |
Codas Syndrome |
|
Short metacarpal, Congenital hip dislocation, Depressed nasal bridge, Anteverted nares, Abnormal ... |
ORPHA:1458 |
Arthrogryposis, Distal, Type 2A |
|
Knee flexion contracture, Hernia, Spina bifida occulta, Wrist flexion contracture, Ulnar deviatio... |
OMIM:193700 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Underdeveloped nasal alae, Wide nasal bridge, Short nose, Brachy... |
OMIM:601224 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Brachydactyly, Depressed nasal bridge, Anteverted nares, Rhizomelia, Flat capital fem... |
OMIM:271510 |
Maxillonasal Dysplasia |
|
Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the toes, Depressed nasal r... |
ORPHA:1248 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Tarsal synostosis, Camptodactyly of finger, Micro... |
ORPHA:2633 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Anteverted nares, Choanal atresia, Camptodactyly of finger, Recurrent fractures, ... |
ORPHA:83 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Bilateral cryptorchidism, Flexion contracture, Hypoplastic iliac wing, Short phalan... |
OMIM:263650 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Depressed nasal bridge, Sandal gap, Postaxial polydactyly, Short... |
OMIM:617102 |
Pseudotrisomy 13 Syndrome |
|
Omphalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Cry... |
OMIM:264480 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Intraalveolar phospholipid a... |
OMIM:610910 |
Perlman Syndrome |
|
Inguinal hernia, Femoral hernia, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridg... |
ORPHA:2849 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short phalanx... |
OMIM:601559 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short metacarpal, Short fourth metatarsal, Depressed nasal bridge, Overlapping toe, C... |
OMIM:616723 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Fing... |
ORPHA:373 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Enlargement of ... |
ORPHA:289157 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia... |
OMIM:601186 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Joint laxity, Inguinal hernia, Arachnodactyly, Atrophic scars, Bilateral talipes equinovarus, Tal... |
OMIM:615539 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Catel-Manzke Syndrome |
|
Inguinal hernia, Overriding aorta, Ventricular septal defect, Dextrocardia, Cryptorchidism, Coarc... |
OMIM:616145 |
Short Stature, Brussels Type |
|
Microretrognathia, Delayed epiphyseal ossification, Calcification of cartilage |
ORPHA:2867 |
Adenylosuccinate Lyase Deficiency |
|
Short nose, Anteverted nares |
ORPHA:46 |
Aarskog-Scott Syndrome |
|
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Lozenge-shaped umbilicus, Ante... |
OMIM:305400 |
Acromesomelic Dysplasia 1 |
|
Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad... |
OMIM:602875 |
Esophageal Atresia |
|
Omphalocele, Recurrent respiratory infections, Cyanosis, Ventricular septal defect, Bronchitis, C... |
ORPHA:1199 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Cryptorchidism, Abnormal heart morphology, Acrocyanosis, Decreased testicular size |
ORPHA:1867 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... |
ORPHA:2347 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Reduced bone miner... |
ORPHA:561 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... |
OMIM:617604 |
Burn-Mckeown Syndrome |
|
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia |
ORPHA:1200 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Trisomy 18 |
|
Microretrognathia, Omphalocele, Choanal atresia, Camptodactyly of finger, Congenital diaphragmati... |
ORPHA:3380 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Micrognathia, Joint stiffness, Long fingers, Ulnar deviation o... |
ORPHA:1895 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Depressed nasal bridge, Sandal gap, Unilateral cryptorchidism, Capitate-hamate fu... |
OMIM:206920 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Anteverted nares, Micrognathia, Bulbous nose, Wide nasal bridge, Camptodactyly, Clinodactyly, Sho... |
OMIM:613604 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Anomalous origin of left coronary artery from the pulmonary artery, Bilateral cryptorch... |
ORPHA:2326 |
3Mc Syndrome 1 |
|
Omphalocele, Single interphalangeal crease of fifth finger, Diastasis recti, Wide anterior fontan... |
OMIM:257920 |
Fryns Syndrome |
|
Microretrognathia, Omphalocele, Anteverted nares, Rocker bottom foot, Proximal placement of thumb... |
OMIM:229850 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Baker-Gordon Syndrome |
|
Joint laxity, Prominent nasal tip, Short nose |
OMIM:618218 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Missing ribs, Bilateral cryptorchidism... |
OMIM:619859 |
Kniest Dysplasia |
|
Enlarged epiphyses, Depressed nasal bridge, Abnormality of the epiphysis of the femoral head, Dum... |
ORPHA:485 |
Stickler Syndrome Type 1 |
|
Osteoarthritis, Joint hyperflexibility, Abnormal epiphysis morphology, Abnormal vertebral epiphys... |
ORPHA:90653 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormal femur morphology, Ap... |
ORPHA:3429 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Transient ischemic attack, Hemothorax, Telangiectasia, Hypoxemia, Pulmonary arterioveno... |
ORPHA:2038 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared m... |
ORPHA:93352 |
Peho-Like Syndrome |
|
Short nose, Tapered finger |
OMIM:617507 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Inguinal hernia, Tapered finger, Flexion contracture, Hyperextensibility at ... |
ORPHA:544503 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syn... |
ORPHA:363417 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Osteopenia, Anteverted nares, Sandal gap, Short toe, Clinodactyly of the 5th fi... |
OMIM:617877 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormality of connectiv... |
ORPHA:91387 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Death in infancy, Short nose, Congenital contracture, Micrognathia |
OMIM:615042 |
Hypophosphatasia |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Emphyse... |
ORPHA:436 |
Opsismodysplasia |
|
Recurrent respiratory infections, Short metacarpal, Depressed nasal bridge, Anteverted nares, Rhi... |
OMIM:258480 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Depr... |
OMIM:618019 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abnormal carp... |
ORPHA:85166 |
Aortic Arch Interruption |
|
Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valv... |
ORPHA:2299 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Cone-s... |
ORPHA:63446 |
Pfeiffer Syndrome |
|
Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the fingers, Depressed nasal... |
OMIM:101600 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Depressed nasal bridge, Rhizomelia, Micrognathia, Cryptorchidism, Short palm, Shor... |
ORPHA:93328 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sandal gap, Clinodactyly, Short nose, Low hanging colum... |
OMIM:617752 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Cryptorchidism, Polydactyly, Short nose, Hypoplastic ischia |
OMIM:616910 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo... |
ORPHA:157215 |
Hypertrichosis Cubiti |
|
Joint hyperflexibility, Rhizomelia, Prominent nasal bridge, Micromelia |
ORPHA:2220 |
Williams Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Dysmetria, Atrial sep... |
ORPHA:904 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Rocker bottom foot, Recurrent fractures, Micrognathia, Prominent nose, Tibial bowi... |
ORPHA:453510 |
Acromesomelic Dysplasia 4 |
|
Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radial bowing, Rhizomeli... |
OMIM:619636 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Anteverted nares, Reduced bone mineral density, Slender long bone, Joint hyperflexibility, Short ... |
ORPHA:1185 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Micrognathia, Cryptorchidism, Joint contracture, Short nose |
OMIM:615419 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal widening, Limit... |
OMIM:224400 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Symphalangism affecting the ... |
ORPHA:2547 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Depressed nasal ridge, Tibial bowing, Short palm, Abnor... |
ORPHA:175 |
3M Syndrome |
|
Hypoplasia of the ulna, Congenital hip dislocation, Anteverted nares, Rocker bottom foot, Microme... |
ORPHA:2616 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Death in early adulthood, Decreased adipose tissue ... |
OMIM:608612 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Clinodactyly of the 5th finger, Short nose, Anteverted nares, Rocker bottom foot |
OMIM:618506 |
Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Tibial bowing, Short palm, Joint contracture, Osteoporos... |
OMIM:601812 |
High Altitude Pulmonary Edema |
|
Hypoxemia, Cyanosis, Pulmonary edema |
ORPHA:330012 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Atrial septal defec... |
OMIM:309801 |
Focal Dermal Hypoplasia |
|
Cleft ala nasi, Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata,... |
OMIM:305600 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Join... |
OMIM:268310 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nasal polyposis, Recurrent intrapulmonary hemorrhage, Abnormal pericardium morphology, Abnormal p... |
ORPHA:183 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crazy paving pattern, Intraalveolar phospholipid accumulation, Hypoxemia, Foam cells |
ORPHA:747 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Recurrent respiratory infections, Calcaneal epiphyseal stippling, Broad nasal tip, Epiphyseal sti... |
ORPHA:79345 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Partial du... |
OMIM:616331 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Short nose, Broad nasal tip |
OMIM:613670 |
Thanatophoric Dysplasia |
|
Depressed nasal bridge, Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Joint ... |
ORPHA:2655 |
Laron Syndrome |
|
Limb undergrowth, Short long bone |
OMIM:262500 |
Image Syndrome |
|
Metaphyseal dysplasia, Depressed nasal bridge, Micromelia, Cryptorchidism |
ORPHA:85173 |
Dent Disease 1 |
|
Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... |
OMIM:300009 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Broad nasal tip, Thickened cortex of long bones, Small hand, Abnormal rib morphology,... |
ORPHA:488434 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph... |
ORPHA:2928 |
C Syndrome |
|
Omphalocele, Death in infancy, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micromel... |
ORPHA:1308 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Broad nasal tip, Recurrent upper respiratory tract infections, Flexion contracture, Prominent nas... |
ORPHA:391372 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Respiratory tract infection, Long fingers, Flexion contracture, Wide nasal bridge... |
OMIM:218000 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Prominent nasal bridge, Tapered finger, Bulbous nose, Flexion contracture, Interphalangeal thumb ... |
OMIM:613870 |
Isolated Anencephaly |
|
Omphalocele, Intrauterine growth retardation, Congenital diaphragmatic hernia |
ORPHA:563609 |
Meckel Syndrome, Type 2 |
|
Omphalocele, Bowing of the long bones, Polydactyly, Postaxial hand polydactyly |
OMIM:603194 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Short t... |
ORPHA:968 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... |
OMIM:609441 |
Hsd10 Disease, Infantile Type |
|
Cyanosis, Cardiomegaly, Choreoathetosis, Loss of ambulation, Hypertrophic cardiomyopathy |
ORPHA:391428 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Muscular ventricular septal defect |
OMIM:619227 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Recurrent lower respiratory t... |
OMIM:616726 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Short nose, Depressed nasal bridge |
ORPHA:438178 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Femoral hernia, Osteomalacia,... |
ORPHA:198 |
Myotubular Myopathy With Abnormal Genital Development |
|
Death in infancy, Unilateral cryptorchidism, Bilateral cryptorchidism, Atelectasis, Thin ribs, Ne... |
OMIM:300219 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Wide nose, Depressed nasal bridge, Micromelia, Micrognathia, Preaxial hand polydacty... |
ORPHA:93271 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Pneumonia, Limited elbow movement... |
OMIM:617809 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Omphalocele, Diastasis recti, Bifid distal phalanx of the thumb, Underdeveloped nasal alae, Limit... |
OMIM:618419 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Brachydactyly, Joint stiffness, Anosmia, Genu valgum, Abnormal metacarpal morphology, Abnormal no... |
ORPHA:1295 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93259 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Joint laxity, Death in infancy, Posterolateral diaphragmatic hernia, Sandal gap, Ingu... |
OMIM:613177 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Joint laxity, Depressed nasal bridge, Anteverted nares, Monkey wrench femoral ... |
OMIM:618870 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Depressed nasal bridge, Short femur, Bowed humeru... |
OMIM:211350 |
Apert Syndrome |
|
Cryptorchidism, Overriding aorta, Ventricular septal defect |
OMIM:101200 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Rhizomelia, Metaphyseal widening, Irregular epiphyses, Absent nasal bridge, Short f... |
OMIM:612813 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Reduced bone mineral density, Short nose, Spina bifida occulta, Genu valgum |
ORPHA:2983 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum atria... |
ORPHA:1329 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Congenital hip dislocation, Depressed nasal bridge, Joint hypermobility, Underdevelop... |
OMIM:616007 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Finger syndactyly, Micrognathia, Short nose, Spina bifida occulta |
ORPHA:1514 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Omphalocele, Cryptorchidism, Abnormal lung lobation, Abnormal cardiac septum morphology, Umbilica... |
ORPHA:2166 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Inguinal hernia, Short femur, Depressed nasal bridge, Anteverted nares, Metaphyseal s... |
OMIM:618188 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Thi... |
ORPHA:249 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Cyanosis, Transient ischemic attack, Pneumonia, Anomalous pulmonary veno... |
ORPHA:99104 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape, Cyanosis |
OMIM:610773 |
Al-Raqad Syndrome |
|
Joint laxity, Short nose, Sandal gap, Brachydactyly |
OMIM:616459 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality o... |
ORPHA:3186 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Hip dislocation, Wide nasal bridge, Joint contracture, Limb undergrowth, Recurrent lo... |
OMIM:618005 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Pulmonary hypoplasia, Talipes ... |
ORPHA:86822 |
Lowry-Maclean Syndrome |
|
Osteopenia, Inguinal hernia, Choanal atresia, Craniosynostosis, Micrognathia, Congenital diaphrag... |
ORPHA:2409 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Depressed nasal bridge, Micromelia, Joint stiffness, Hypop... |
ORPHA:1860 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Anteverted nares, Broad nasal tip, Hip dislocation, Wide nasal br... |
OMIM:615583 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
Omodysplasia 1 |
|
Micrognathia, Limited elbow flexion, Short tibia, Depressed nasal bridge, Increased fibular diame... |
OMIM:258315 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Inguinal hernia, Spontaneous neonatal pneumothorax, Micrognathia, Wide ... |
OMIM:225410 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Recurrent respiratory infections, Anteverted nares, Depressed nasal bridge, Sa... |
OMIM:616835 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Omphalocele, Death in infancy, Neoplasm of the heart, Cryptorchidism, Umbilical hernia |
ORPHA:2241 |
Caudal Duplication |
|
Omphalocele, Cryptorchidism |
ORPHA:1756 |
Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Bowing of the long bones, Increased bone mineral density, Abnormal dental en... |
ORPHA:1798 |
Congenital Tracheal Stenosis |
|
Cyanosis, Ventricular septal defect, Ascending aorta hypoplasia, Abnormal lung morphology, Patent... |
ORPHA:141127 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Micromelia |
OMIM:273680 |
Sponastrime Dysplasia |
|
Aplasia of the nasal bone, Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia str... |
ORPHA:93357 |
Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Pneumothorax, Cyanosis |
ORPHA:1302 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Depressed nasal bridge, Cryptorchidism, Bulbous nose, Wide nasal bridge, Arthrogrypos... |
ORPHA:369891 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Brachydactyly, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Camptodac... |
ORPHA:1327 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Left ventricular hypertrophy, Bruising susceptibility, Decreased testicular size, Subcu... |
ORPHA:335 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Crypt... |
OMIM:210710 |
Holoprosencephaly |
|
Omphalocele, Aplasia/Hypoplasia involving the nose, Anteverted nares, Choanal atresia, Congenital... |
ORPHA:2162 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Arachnodactyly, Depr... |
ORPHA:536467 |
Infantile Systemic Hyalinosis |
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Osteopenia, Camptodactyly of finger, Micromelia, Osteomalacia, Recurrent fractures, Joint stiffne... |
ORPHA:2176 |
Smith-Kingsmore Syndrome |
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Depressed nasal bridge, Rhizomelia, Diastasis recti, Short proximal phalanx of finger, Wide anter... |
OMIM:616638 |
Raine Syndrome |
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Death in infancy, Bowing of the long bones, Increased bone mineral density, Depressed nasal bridg... |
OMIM:259775 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Omphalocele, Intrauterine growth retardation, Ventricular septal defect, Congenital pulmonary air... |
ORPHA:436252 |
Ohdo Syndrome |
|
Joint laxity, Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal ... |
OMIM:249620 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
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Narrow nasal bridge, Recurrent respiratory infections, Anteverted nares, Overlapping toe, Flexion... |
OMIM:619383 |
Bronchopulmonary Dysplasia |
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Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration, Tracheobronchomalacia |
ORPHA:70589 |
Pulmonary Alveolar Microlithiasis |
|
Mitral valve calcification, Cyanosis, Bronchitis, Respiratory tract infection, Pleural thickening... |
ORPHA:60025 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
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Bowing of the long bones, Micromelia, Micrognathia, Cryptorchidism, Wide nasal bridge, Short long... |
OMIM:224410 |
Hypophosphatemic Rickets, Autosomal Dominant |
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Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Ascending aorta hypoplasia, Flexion contracture, Facial erythema, Knee flexion contracture, Crypt... |
OMIM:619503 |
Gm1 Gangliosidosis |
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Recurrent respiratory infections, Inguinal hernia, Depressed nasal bridge, Camptodactyly of finge... |
ORPHA:354 |
Breath-Holding Spells |
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Cyanosis |
OMIM:607578 |
Teebi Hypertelorism Syndrome 2 |
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Syndactyly, Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Clinodactyly of the ... |
OMIM:619736 |
Heterotaxy, Visceral, 8, Autosomal |
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Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Mucus Inspissation Of Respiratory Tract |
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Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
Osteogenesis Imperfecta, Type Viii |
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Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Inguinal hernia, Recurrent fractures, ... |
OMIM:610915 |
Charge Syndrome |
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Omphalocele, Atrial septal defect, Overriding aorta, Ventricular septal defect, Secundum atrial s... |
OMIM:214800 |
Ophthalmomandibulomelic Dysplasia |
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Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Decreased mobilit... |
OMIM:164900 |
Distal Duplication 5Q |
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Hypoplasia of the ulna, Prominent nasal bridge, Craniosynostosis, Absent thumb, Micrognathia, Cry... |
ORPHA:96097 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
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Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi... |
OMIM:601356 |
Hereditary Methemoglobinemia |
|
Athetosis, Cyanosis |
ORPHA:621 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
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Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fallot, Subvalvular aortic... |
OMIM:108900 |
Osteogenesis Imperfecta, Type Vii |
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Osteopenia, Death in infancy, Crumpled long bones, Multiple rib fractures, Rhizomelia, Protrusio ... |
OMIM:610682 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
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Radial bowing, Postaxial polydactyly, Micromelia, Micrognathia, Missing ribs, Ulnar bowing, Preax... |
OMIM:617866 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
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Joint laxity, Anteverted nares, Prominent nasal bridge, Cryptorchidism, Recurrent pneumonia, Shor... |
ORPHA:500159 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
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Osteopenia, Convex nasal ridge, Micrognathia, Generalized joint laxity, Tibial bowing, Clinodacty... |
ORPHA:251028 |
Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... |
OMIM:163400 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
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Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Limited elbow movement, Micrognathia, Long nose, Narrow greater sciatic notch, Short phalanx of f... |
ORPHA:508533 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
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Joint laxity, Wide nose, Anteverted nares, Down-sloping shoulders, Dorsocervical fat pad, Deviati... |
ORPHA:391408 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Depressed nasal bridge, Anteverted nares, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Sho... |
OMIM:613443 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
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Syndactyly, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Micrognathia, ... |
OMIM:217980 |
Buerger Disease |
|
Vasculitis, Acrocyanosis |
ORPHA:36258 |
Thanatophoric Dysplasia Type 2 |
|
Depressed nasal bridge, Micromelia, Limitation of joint mobility, Aplasia/Hypoplasia of the lungs... |
ORPHA:93274 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
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Microretrognathia, Recurrent respiratory infections, Short nose, Postaxial hand polydactyly |
ORPHA:1389 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
Severe X-Linked Intellectual Disability, Gustavson Type |
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Congenital hip dislocation, Rocker bottom foot, Micrognathia, Recurrent upper respiratory tract i... |
ORPHA:3078 |
Bartsocas-Papas Syndrome |
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Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Underd... |
ORPHA:1234 |
Geleophysic Dysplasia 1 |
|
Short palm, Osteopenia, Anteverted nares, Camptodactyly of finger, Coxa valga, Joint stiffness, S... |
OMIM:231050 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Recurrent respiratory infections, Osteomyelitis, Recurrent fractures, Craniosynostosi... |
ORPHA:2314 |
Alkuraya-Kucinskas Syndrome |
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Depressed nasal bridge, Anteverted nares, Overlapping toe, Micrognathia, Cutaneous syndactyly, Pl... |
OMIM:617822 |
3C Syndrome |
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Finger syndactyly, Recurrent respiratory infections, Death in infancy, Depressed nasal bridge, In... |
ORPHA:7 |
Oculodentodigital Dysplasia |
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Micrognathia, Clinodactyly of the 5th finger, Broad columella, Finger syndactyly, Anteverted nare... |
ORPHA:2710 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Cyanosis, Right ventricular hypertrophy |
ORPHA:444013 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
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Muscular ventricular septal defect |
OMIM:618569 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Depressed nasal bridge, Preaxial hand polydactyly, Multiple lipomas, Foot polydactyly, Short nose |
ORPHA:210548 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Generalized joint la... |
ORPHA:536471 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93260 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Cryptorchidis... |
ORPHA:3097 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Micrognathia, Short distal phalanx of toe, Short nose, Bilateral triphalangeal ... |
OMIM:619356 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Limb joint contracture, Ankle flexion contracture, Knee flexion contracture, Intrauterine growth ... |
ORPHA:284417 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Bifid nasal tip, Depressed nasal ridge, Short nose, Dysplasia of the femora... |
OMIM:616854 |
Tetrasomy 5P |
|
Recurrent respiratory infections, Pericallosal lipoma, Anteverted nares, Overlapping toe, Short h... |
ORPHA:3309 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Anteverted nares, Pneumonia, Recurrent upper respiratory tract infections... |
OMIM:614069 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Recurrent respirato... |
ORPHA:3041 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Camptodactyly of finger, Prominent nasal bridge, Underdeveloped nasal alae, Micrognathia, Cryptor... |
ORPHA:2083 |
Non-Distal Duplication 13Q |
|
Arachnodactyly, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Hernia, Short nose |
ORPHA:1702 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia, Bowing of the legs |
ORPHA:89937 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Depressed nasal bridge, Duplication of thumb phalanx, Tarsal synost... |
ORPHA:2756 |
Craniorachischisis |
|
Omphalocele, Bifid sternum, Congenital diaphragmatic hernia, Sirenomelia |
ORPHA:63260 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Acroosteolysis of distal phalanges (feet), Abnormal fingerti... |
ORPHA:90154 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Prominent fingertip pads, Short nose, Anteverted nares, Prominent nasal bridge |
OMIM:300558 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:619466 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Campomelia, Cumming Type |
|
Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal r... |
ORPHA:1318 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose, Micrognathia |
ORPHA:2598 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal phalanx of finger |
OMIM:277450 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of... |
ORPHA:254361 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ... |
OMIM:612474 |
C1Q Deficiency 2 |
|
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Arthritis |
OMIM:620321 |
Cutis Laxa, Autosomal Dominant 1 |
|
Inguinal hernia, Ventricular septal defect, Prematurely aged appearance, Poor wound healing, Prog... |
OMIM:123700 |
20Q11.2 Microduplication Syndrome |
|
Inguinal hernia, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge, Sho... |
ORPHA:363659 |
Feingold Syndrome Type 1 |
|
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... |
ORPHA:391641 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Rhizomelia, Prominent nose, Micrognathia, Generaliz... |
ORPHA:763 |
Marshall Syndrome |
|
Radial bowing, Depressed nasal bridge, Anteverted nares, Coxa valga, Hypoplastic ilia, Micrognath... |
OMIM:154780 |
Wrinkly Skin Syndrome |
|
Inguinal hernia, Progeroid facial appearance, Cryptorchidism, Muscular ventricular septal defect,... |
OMIM:278250 |
Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Cyanosis |
ORPHA:2004 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Death in childhood, Death in adolescence, Osteoporosis, Rickets |
OMIM:560000 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, Anteverted nares, Long hallux, Tapered finger |
OMIM:619854 |
Meckel Syndrome 14 |
|
Pneumothorax, Pulmonary hypoplasia, Cyanosis, Single ventricle |
OMIM:619879 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Short nose, Joint hypermobility |
OMIM:300143 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short nose, Sandal gap, Congenital diaphragmatic hernia |
OMIM:300887 |
Boomerang Dysplasia |
|
Underdeveloped nasal alae, Absent radius, Wide nasal bridge, Hypoplastic nasal septum, Hypoplasti... |
OMIM:112310 |
Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Cryptorchidism, Congenital diaphragmatic hernia |
ORPHA:95706 |
Pallister-Hall Syndrome |
|
Abnormal lung lobation, Neonatal death, Distal shortening of limbs, Syndactyly, Mesoaxial foot po... |
OMIM:146510 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Short nose, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip |
OMIM:615716 |
Trisomy 20P |
|
Finger syndactyly, Inguinal hernia, Anteverted nares, Camptodactyly of finger, Micrognathia, Prea... |
ORPHA:261318 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis |
OMIM:300455 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Short nose, Thick nasal alae, Supernumerary ribs, Micrognathia |
ORPHA:163961 |
Fanconi Renotubular Syndrome 3 |
|
Rickets, Bowing of the legs |
OMIM:615605 |
Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Vertebral fusion, Anteverted nares, Bo... |
OMIM:272460 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Cyanosis, Transient ischemic attack, Pulmonary arteriovenous malform... |
OMIM:610655 |
Tarp Syndrome |
|
Broad-based gait, Cyanosis, Cryptorchidism, Pulmonary hypoplasia, Atrial septal defect, Intrauter... |
ORPHA:2886 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... |
OMIM:157800 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Rhizomelia, Absent nasal bridge, Mesomelia, Broad thumb, Brachydactyly |
ORPHA:171866 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares... |
OMIM:612394 |
Mullegama-Klein-Martinez Syndrome |
|
Congenital diaphragmatic hernia, Unsteady gait, Coarctation of aorta, Hypoplastic left heart, Api... |
OMIM:301022 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Prominent nose, Long nose, Micrognathia, Abnormal finger morphology, Shor... |
ORPHA:2636 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Inguinal hernia, Cryptorchidism, Small hand, Short palm, Cl... |
ORPHA:1786 |
Intellectual Disability-Strabismus Syndrome |
|
Depressed nasal bridge, Rocker bottom foot, Narrow nasal ridge, Prominent nose, Micrognathia, Con... |
ORPHA:363528 |
Becker Nevus Syndrome |
|
Lipoatrophy, Micromelia, Abnormal tibia morphology, Rib fusion, Supernumerary ribs, Spina bifida ... |
ORPHA:64755 |
Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Micromelia, Broad nasal tip, Abnormal epiphysis morphology, Dimple on na... |
ORPHA:1784 |
Iniencephaly |
|
Omphalocele, Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Absent vertebra, Ta... |
ORPHA:63259 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Finger syndactyly, Prominent nasal bridge, Cryptorchidism, Short toe, Wide nasal bri... |
ORPHA:1519 |
Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Depressed nasal ridge,... |
OMIM:618774 |
Hydrolethalus Syndrome 1 |
|
Omphalocele, Ventricular septal defect, Complete atrioventricular canal defect, Abnormal lung lob... |
OMIM:236680 |
Autosomal Recessive Robinow Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Synostosis of carpal bones, Finger syndactyly, Broa... |
ORPHA:1507 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... |
ORPHA:1422 |
Congenital Myasthenic Syndrome |
|
Waddling gait, Recurrent respiratory infections, Cyanosis, Ataxia, Tip-toe gait, Difficulty walki... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Recurrent respiratory infections, Cyanosis, Ataxia, Tip-toe gait, Difficulty walki... |
ORPHA:98914 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Recurrent respiratory infections, Micrognathia, Contractures of the large joints, Sho... |
ORPHA:329178 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Short nose |
ORPHA:2429 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Congenital diaphragmatic hernia, Arachnodactyly, Hip dislocation |
OMIM:614100 |
Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis |
OMIM:615294 |
16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ... |
ORPHA:261211 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Talipes equinovarus |
OMIM:614209 |
Desmosterolosis |
|
Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Micrognathia, Generalized osteosclerosis,... |
OMIM:602398 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula... |
OMIM:261740 |
Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Calcification of the auricular cartilage, Depressed nasal b... |
OMIM:245150 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Micrognathia, Flexion contracture, Osteoporosis, Short nose |
OMIM:615851 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Arachnodactyly, Sandal gap, Repeated pneumothoraces, Joint hypermobility, Long nose, Congenital d... |
OMIM:617602 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Allergic rhinitis, Elbow contracture, 2-3 toe syndactyly, Knee flexion contracture, I... |
OMIM:618162 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs |
ORPHA:882 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Depressed nasal bridge, Anteverted nares, Osteoporosis, Lambd... |
OMIM:615398 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge |
OMIM:200130 |
Cloacal Exstrophy |
|
Omphalocele, Abnormal tibia morphology, Hip dislocation, Absent foot, Abnormal fibula morphology,... |
ORPHA:93929 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Tapered finger, Bilateral cryptorchidism, Bulbous nose, 2-3 toe syndactyly, Clinod... |
ORPHA:485405 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... |
OMIM:602418 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, Cryptorch... |
ORPHA:2879 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Depressed nasal bridge, Coxa valga, Micrognathia, Hammertoe, Hip dysplasia, Distal arthrogryposis... |
OMIM:619833 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Postaxial polydactyly, Micromelia, Fl... |
OMIM:614091 |
Meckel Syndrome, Type 1 |
|
Omphalocele, Camptodactyly of finger, Cryptorchidism, Patent ductus arteriosus, Coarctation of ao... |
OMIM:249000 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb morphology, Small hand, Deviation of ... |
ORPHA:1597 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Ataxia, Petechiae |
OMIM:602473 |
Harel-Yoon Syndrome |
|
Short nose, Hip dysplasia, Micrognathia |
OMIM:617183 |
Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis, Chronic rhinitis, Abno... |
ORPHA:922 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Short nose, Anteverted nares, Brachydactyly |
ORPHA:2701 |
Isotretinoin-Like Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arte... |
ORPHA:2306 |
Distal Deletion 10Q |
|
Sandal gap, Prominent nasal bridge, Craniosynostosis, Prominent nose, Tapered finger, Micrognathi... |
ORPHA:96148 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Broad hallux, Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the finge... |
OMIM:614749 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Anteverted nares, Overlapping toe, Underdev... |
OMIM:613026 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... |
ORPHA:440354 |
Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Choanal stenosis, Elbow ankylosis, Short metacarpal, Abnorma... |
ORPHA:95699 |
5Q14.3 Microdeletion Syndrome |
|
Short nose, Toe syndactyly, Anteverted nares |
ORPHA:228384 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Inguinal hernia, Congenital hip dislocation, Anteverted nares, Lipodystrophy, Wide anterior fonta... |
OMIM:219200 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Tapered toe, Shoulder flexion contracture, Limb joint contracture, Micrognathia,... |
OMIM:620369 |
Fg Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:300581 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Cryptorchidism, Humeroradial synos... |
OMIM:134780 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Clinodactyly of the 5th finger, Sho... |
OMIM:618828 |
Dravet Syndrome |
|
Bradykinesia, Progressive gait ataxia, Cyanotic episode |
ORPHA:33069 |
Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Cyanosis, Left atrial enlargement, Right ventricular dilatation... |
ORPHA:99106 |
Bladder Exstrophy |
|
Omphalocele, Umbilical hernia, Inguinal hernia, Bladder exstrophy |
ORPHA:93930 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Recurrent lower respiratory trac... |
OMIM:617802 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Depressed nasal ridge, O... |
ORPHA:2671 |
Gomez-Lopez-Hernandez Syndrome |
|
Wide anterior fontanel, Short nose, Anteverted nares, Craniosynostosis |
OMIM:601853 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Rickets, Epistaxis |
OMIM:211600 |
Meckel Syndrome, Type 8 |
|
Polydactyly, Short nose, Depressed nasal ridge, Talipes equinovarus |
OMIM:613885 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Inguinal hernia, Ventricular septal defect, Congenital diaphragmati... |
OMIM:600001 |
Colonic Atresia |
|
Omphalocele, Gastroschisis |
ORPHA:1198 |
Desmosterolosis |
|
Increased bone mineral density, Depressed nasal bridge, Micromelia, Abnormality of the nose, Meta... |
ORPHA:35107 |
Fetal Hydantoin Syndrome |
|
Cryptorchidism, Depressed nasal ridge, Hernia, Triphalangeal thumb, Short nose, Short distal phal... |
ORPHA:1912 |
Holoprosencephaly 7 |
|
Omphalocele, Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, Depressed nasal t... |
OMIM:610828 |
Aicardi-Goutieres Syndrome 1 |
|
Inability to walk, Erythema, Vasculitis, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosi... |
OMIM:225750 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Rickets of the... |
ORPHA:289176 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, U... |
ORPHA:920 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Inguinal hernia, Congenital hip dislocation, Anteverted nares, Lipodystrophy, Broad nasal tip, Ge... |
ORPHA:357074 |
Fraser Syndrome |
|
Omphalocele, Finger syndactyly, Death in infancy, Cleft ala nasi, Depressed nasal bridge, Toe syn... |
ORPHA:2052 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Syndactyly, Aplasia of the nasal bone, Joint stiffness, Micrognathia, Cryptorchidism... |
OMIM:618820 |
Congenital Varicella Syndrome |
|
Atypical scarring of skin, Micromelia |
ORPHA:291 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Ventricular septal defect, Cardiomegaly, Stroke-like episode, Lethargy, Pulmonary edema |
ORPHA:137675 |
Smith-Magenis Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Joint stiffness, Wide nas... |
ORPHA:819 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Anteverted nares, Wide nasal bridge, Coxa vara, 2-3 toe syndactyly, Radioulnar synost... |
OMIM:614701 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Recurrent respiratory infections, Micromelia, Underdeveloped nasal alae, Prominent nose, Wide nas... |
ORPHA:2637 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose |
ORPHA:833 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Fanconi Renotubular Syndrome 5 |
|
Genu valgum, Pulmonary fibrosis, Hypophosphatemic rickets, Emphysema, Lung adenocarcinoma |
OMIM:618913 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Micromelia, Small hand, Short foot, Short palm |
ORPHA:238750 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Vertebral fusion, Inguinal hernia, Anteverted nares, Prominent nasal bridge, Down-slo... |
OMIM:227330 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Limb undergrowth, Flexion contracture, Recurrent aspiration pneumonia |
ORPHA:79243 |
Bainbridge-Ropers Syndrome |
|
Death in infancy, Ulnar deviation of the hand, Depressed nasal bridge, Anteverted nares, Prominen... |
OMIM:615485 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Broad hallux, Depressed nasal bridge, Anteverted nares, Bulbous nose, Short nose |
OMIM:614105 |
Melanocytic Nevus Syndrome, Congenital |
|
Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip |
OMIM:137550 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Depressed nasal bridge, Rhizomelia, Craniosynostosis, Micrognathia, Bulbous nose, Abnormal lung l... |
OMIM:614114 |
Dpm1-Cdg |
|
Sandal gap, Depressed nasal bridge, Micrognathia, Knee flexion contracture, Camptodactyly, Limb u... |
ORPHA:79322 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Pneumonia, Micrognathia, Bronchiectasis, Chronic bronch... |
OMIM:242860 |
Facial Paresis, Hereditary Congenital, 3 |
|
Depressed nasal bridge, Anteverted nares, Short nose, Micrognathia |
OMIM:614744 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiomyopathy, Cyanosis, Lethargy |
ORPHA:159 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Osteopenia, Depressed nasal bridge, Long nose, Slender long bone, Short nose, Joint hypermobility |
OMIM:618590 |
Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Coxa vara, Wrist flexion contracture, Death in infancy, Increased bone ... |
ORPHA:800 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets |
OMIM:613388 |
Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Depressed nasal bridge, Sandal gap, Tapered finger, Micrognathia, Bulbous nose, Wide nasal bridge... |
OMIM:617061 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Depressed nasal bridge, Sandal gap, Tapered finger, Bulbous nose, Clinodactyly of the 5th finger,... |
OMIM:618430 |
Peho Syndrome |
|
Recurrent respiratory infections, Anteverted nares, Tapered finger, Flexion contracture, Limitati... |
ORPHA:2836 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Nasal polyposis, Peribronchovascular interstitial thickening,... |
ORPHA:244 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
3P25.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Tapered finger, Prominent ... |
ORPHA:435638 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Microretrognathia, Inguinal hernia, Craniosynostosis, Tapered finger, Cryptorchidism, Generalized... |
ORPHA:2953 |
Manitoba Oculotrichoanal Syndrome |
|
Bifid nasal tip, Omphalocele, Broad nasal tip |
OMIM:248450 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Depressed nasal ridge |
ORPHA:1861 |
Arterial Tortuosity Syndrome |
|
Inguinal hernia, Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular necr... |
ORPHA:3342 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Overhanging nasal tip, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Short nose, Micromelia, Adducted thumb |
ORPHA:50810 |
Radio-Renal Syndrome |
|
Depressed nasal bridge, Micromelia, Micrognathia, Hypoplasia of the radius, Abnormal rib morpholo... |
ORPHA:3015 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Wide nose, Vertebral fusion, Anteverted nares, Overlappi... |
OMIM:213980 |
Meier-Gorlin Syndrome 1 |
|
Micrognathia, Flat glenoid fossa, Flexion contracture, Cutaneous finger syndactyly, Short palm, C... |
OMIM:224690 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Calcif... |
ORPHA:3348 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Prominent nasal bridge, Proximal placement of thumb, Tapered finger, Microg... |
ORPHA:251071 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Increased density of l... |
OMIM:269150 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
Hypomandibular Faciocranial Dysostosis |
|
Recurrent respiratory infections, Death in infancy, Anteverted nares, Craniosynostosis, Choanal s... |
ORPHA:1790 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowin... |
ORPHA:1652 |
Chromosome 16P13.3 Duplication Syndrome |
|
Proximal placement of thumb, Micrognathia, Depressed nasal bridge, Anteverted nares, Tapered fing... |
OMIM:613458 |
Okamoto Syndrome |
|
Omphalocele, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Wide nasal brid... |
ORPHA:2729 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Death in infancy, Inguinal hernia, Perianal erythema, Cryptorchidism, Recurrent uppe... |
OMIM:308205 |
Choanal Atresia |
|
Recurrent respiratory infections, Cyanosis |
ORPHA:137914 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:620292 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Aplasia/Hypoplasia of the ulna |
ORPHA:2491 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Diastasis recti, Cryptorchidism, Bulbous nose, Osteoporosis, Wide na... |
ORPHA:488632 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Joint contracture of the 5th finger, Truncal ataxia |
OMIM:614407 |
Down Syndrome |
|
Joint laxity, Depressed nasal bridge, Sandal gap, Depressed nasal ridge, Clinodactyly of the 5th ... |
ORPHA:870 |
Fetal Alcohol Syndrome |
|
Anteverted nares, Congenital diaphragmatic hernia, Joint stiffness, Micrognathia, Short nose |
ORPHA:1915 |
Tetrasomy 12P |
|
Joint hyperflexibility, Short nose, Anteverted nares |
ORPHA:884 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Depr... |
OMIM:180700 |
Cornelia De Lange Syndrome 1 |
|
Proximal placement of thumb, Micromelia, Micrognathia, Congenital diaphragmatic hernia, Clinodact... |
OMIM:122470 |
Cardioacrofacial Dysplasia 2 |
|
Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ... |
OMIM:619143 |
Osteogenesis Imperfecta |
|
Osteopenia, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contracture, Osteoarthri... |
ORPHA:666 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Depressed nasal bridge, Anteverted nares, Br... |
ORPHA:97360 |
Leukodystrophy, Hypomyelinating, 10 |
|
Arachnodactyly, Bulbous nose, Anteverted nares, Short nose |
OMIM:616420 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Tapered finger, Broad nasal tip, Short toe, Wide nasal bridge, Delayed ossification of carpal bon... |
OMIM:239300 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Omphalocele, Short metacarpal, Toe syndactyly, Abnormal nasal morphology, Cutaneo... |
OMIM:200110 |
Poikiloderma With Neutropenia |
|
Joint laxity, Depressed nasal bridge, Micrognathia, Underdeveloped nasal alae, Recurrent bronchop... |
OMIM:604173 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98913 |
Warburg Micro Syndrome 2 |
|
Overlapping toe, Prominent nasal bridge, Cryptorchidism, Flexion contracture, Short nose, Clinoda... |
OMIM:614225 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Pneumonia, Absent frontal sinuses, Atelectasis, Absent outer dynein arms, Anosmi... |
OMIM:244400 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... |
ORPHA:93333 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Prominent nose, Micrognathia, Aplasia of the epiglottis, Clinodactyl... |
OMIM:268305 |
Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis, Transient ischemic attack, Pneumonia, Right ventricular dilatation, Stroke, Abnormal mi... |
ORPHA:99103 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Macroorchidism, Osteomalacia, Recurrent fractures, Fibrous dyspl... |
ORPHA:562 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous... |
ORPHA:93322 |
Weiss-Kruszka Syndrome |
|
Anteverted nares, Proximal placement of thumb, Clinodactyly of the 5th finger, Short nose, Horizo... |
OMIM:618619 |
Cousin Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Hypoplastic ischia, Micrognathia, 4-5 toe syndactyly, Humerorad... |
OMIM:260660 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Clinodactyly, Short distal phalanx of finger, Short nose, Brachydactyly |
OMIM:614261 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Underdeveloped nasal alae, Clinodactyly, 4-5 finger syndac... |
OMIM:164200 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:611936 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Ataxia, Inability to walk, Gait ataxia, Choreoathetosis |
OMIM:619580 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Long nose, Clinodactyly, Sho... |
OMIM:615866 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Inguinal hernia, Arachnodactyly, Depressed nasal bridge, Anteverted nares, Abnormal thumb morphol... |
ORPHA:2719 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cryptorchidism, Short nose, Hip dysplasia, Micrognathia |
ORPHA:496790 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Ataxia, Erythema, Vasculitis, Urticaria, Acrocyanosis, Purpura |
ORPHA:343 |
Farber Disease |
|
Nodular pattern on pulmonary HRCT, Atelectasis, Short toe, Recurrent upper respiratory tract infe... |
ORPHA:333 |
Restrictive Dermopathy 2 |
|
Intrauterine growth retardation, Cyanosis |
OMIM:619793 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Aspiration pneumonia, Sh... |
OMIM:616430 |
Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
Trisomy 8P |
|
Peripheral pulmonary artery stenosis, Short fourth metatarsal, Short fifth metatarsal, Depressed ... |
ORPHA:264450 |
Nicolaides-Baraitser Syndrome |
|
Short metatarsal, Prominent interphalangeal joints, Short phalanx of finger, Long toe, Short meta... |
OMIM:601358 |
Unilateral Polymicrogyria |
|
Cyanosis, Stroke, Pulmonary arteriovenous malformation, Abnormal heart morphology |
ORPHA:268943 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
Nablus Mask-Like Facial Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short hallux, Tapered finger, Sandal gap, Craniosynosto... |
OMIM:608156 |
Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Coxa valga, Hypoplastic vertebral bodies, Limb undergrowth, Thin bony cortex |
OMIM:230600 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Ataxia, Petechiae |
ORPHA:51188 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Prominent nasal bridge, Broad nasal tip, Long nose, Cryptorchidism, Limb undergr... |
OMIM:616541 |
Kinsship Syndrome |
|
Osteopenia, Death in infancy, Coxa valga, Micrognathia, Bulbous nose, Low hanging columella, Hip ... |
OMIM:619297 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Baraitser-Winter Syndrome 1 |
|
Anteverted nares, Cryptorchidism, Duplication of phalanx of hallux, Wide nasal bridge, Short nose |
OMIM:243310 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Fetal Trimethadione Syndrome |
|
Short nose, Depressed nasal bridge, Micrognathia |
ORPHA:1913 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Sandal gap, Prominent nose, Micrognathia, Bulbous nose, Depressed nasal ridge, Short foot, Hip dy... |
OMIM:156200 |
Chiari Malformation Type Ii |
|
Cyanosis, Ataxia |
OMIM:207950 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, C... |
OMIM:601803 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets, Rachitic rosary |
OMIM:612089 |
Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocarditis, Erythema... |
ORPHA:221 |
Autosomal Dominant Robinow Syndrome |
|
Micromelia, Micrognathia, Coxa vara, Short palm, Clinodactyly of the 5th finger, Finger syndactyl... |
ORPHA:3107 |
Tetrasomy 18P |
|
Large hands, Short nose |
ORPHA:3307 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Recurrent pneumonia, Polydactyly, Aspirat... |
ORPHA:314655 |
Aymé-Gripp Syndrome |
|
Inguinal hernia, Depressed nasal bridge, Rocker bottom foot, Craniosynostosis, Tapered finger, Co... |
ORPHA:1272 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Clinodactyly, Syndactyly, Short nose |
OMIM:618087 |
Heterotaxy, Visceral, 5, Autosomal |
|
Bilateral trilobed lung, Atrial septal defect, Right atrial isomerism, Ventricular septal defect,... |
OMIM:270100 |
Jaberi-Elahi Syndrome |
|
Depressed nasal bridge, Joint stiffness, Talipes equinovarus, Hand clenching, Short nose, Joint h... |
OMIM:617988 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
Developmental And Epileptic Encephalopathy 75 |
|
Short nose, Anteverted nares, Wide nasal bridge |
OMIM:618437 |
Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Wide nasal bridge, ... |
ORPHA:1908 |
Trisomy 12P |
|
Micrognathia, Wide nasal bridge, Large hands, Clinodactyly of the 5th finger, Short nose |
ORPHA:1699 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets |
OMIM:611590 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Diamond-Blackfan Anemia 8 |
|
Short nose, Wide nasal bridge |
OMIM:612563 |
Warburg Micro Syndrome 3 |
|
Micrognathia, Flexion contracture, Clinodactyly of the 5th finger, Short nose, Decreased testicul... |
OMIM:614222 |
Peho Syndrome |
|
Short nose, Tapered finger |
OMIM:260565 |
Frontofacionasal Dysplasia |
|
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, Dimple on nasal ... |
ORPHA:1791 |
Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Osteoarthritis, Hypoplastic frontal sinus... |
ORPHA:560 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bulbous nose, Depressed nasal bridge, Choanal atresia, Short nose |
ORPHA:284169 |
Congenital Disorder Of Glycosylation, Type Il |
|
Short nose, Depressed nasal bridge, Hip dislocation |
OMIM:608776 |
Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis |
ORPHA:464453 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Gait disturbance, Gait imbalance, Difficulty walking |
ORPHA:488627 |
Gaucher Disease, Perinatal Lethal |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Pulmonary hypoplasia, Neonatal death, Art... |
OMIM:608013 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Joint laxity, Recurrent respiratory infections, Inguinal hernia, Arachnodactyly, Congenital diaph... |
OMIM:219100 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Bowing of the long bones, Camptodactyly of finger, Micromelia, Recurrent fractures, M... |
ORPHA:3206 |
Orofaciodigital Syndrome Type 4 |
|
Micromelia, Micrognathia, Depressed nasal ridge, Aplasia/Hypoplasia of the tibia, Genu varum, Fin... |
ORPHA:2753 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Death in infancy, Cyanosis, Ataxia, Death in childhood, Recurrent lower respiratory tract infections |
OMIM:618426 |
Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Sandal gap, Depressed nasal bridge, Abnormal dental enamel morphology, Cryptorch... |
ORPHA:1812 |
Fucosidosis |
|
Lipoatrophy, Acrocyanosis, Vascular skin abnormality, Cardiomegaly |
ORPHA:349 |
Sarcoidosis, Susceptibility To, 2 |
|
Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pleural effus... |
OMIM:612387 |
Oeis Complex |
|
11 pairs of ribs, Absence of the sacrum, Omphalocele, Congenital hip dislocation, Cryptorchidism,... |
OMIM:258040 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Inguinal hernia, Depressed nasal bridge, Unilateral cryptorchidism, Micrognathia, Bilateral crypt... |
OMIM:613457 |
Eisenmenger Syndrome |
|
Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, Abnormal he... |
ORPHA:97214 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head |
OMIM:605274 |
Kleefstra Syndrome |
|
Recurrent respiratory infections, Anteverted nares, Cryptorchidism, Pulmonary artery stenosis, Li... |
ORPHA:261494 |
Dermotrichic Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:99688 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b... |
ORPHA:1225 |
Familial Dysautonomia |
|
Recurrent respiratory infections, Ataxia, Abnormal pleura morphology, Gait disturbance, Acrocyanosis |
ORPHA:1764 |
Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Anteverted nares, Recurrent respiratory ... |
ORPHA:2308 |
Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Recurrent bronchitis |
OMIM:604571 |
Monosomy 9P |
|
Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Choanal atresia, Abnormali... |
ORPHA:261112 |
Menke-Hennekam Syndrome 1 |
|
Narrow nasal bridge, Inguinal hernia, Anteverted nares, Depressed nasal bridge, Broad hallux, Und... |
OMIM:618332 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Rocker bottom foot, Micrognathia, Micromelia, Cryptorchidism, Bulbous no... |
ORPHA:99776 |
Chops Syndrome |
|
Anteverted nares, Cryptorchidism, Anomalous pulmonary venous return, Aspiration pneumonia, Trache... |
OMIM:616368 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Recurrent respiratory infections, Inguinal hernia, Abnormal pelvis bone morphology, ... |
ORPHA:2273 |
Poems Syndrome |
|
Pericardial effusion, Pleural effusion, Acrocyanosis, Lipodystrophy |
ORPHA:2905 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Short nose, Micrognathia, Wide nasal bridge, Tapered finger |
OMIM:620250 |
Micro Syndrome |
|
Anteverted nares, Joint stiffness, Micrognathia, Cryptorchidism, Wide nasal bridge, Short nose |
ORPHA:2510 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... |
ORPHA:3103 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose |
ORPHA:85277 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Rickets |
ORPHA:2088 |
Coffin-Siris Syndrome |
|
Joint laxity, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Cryptorchidism, Clinodac... |
ORPHA:1465 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Anteverted nares, Polydactyly, Complete duplication of thum... |
ORPHA:59315 |
Shprintzen Omphalocele Syndrome |
|
Omphalocele, Short columella, Flared nostrils, Wide nasal bridge |
OMIM:182210 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Depressed nasal bridge, Micrognathia, Cryptorchidism, Humeroradi... |
ORPHA:3404 |
Prolidase Deficiency |
|
Depressed nasal bridge, Micrognathia, Recurrent pneumonia, Concave nasal ridge, Short nose |
OMIM:170100 |
9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares |
DECIPHER:52 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Exstrophy-Epispadias Complex |
|
Omphalocele, Inguinal hernia, Cryptorchidism, Cystocele, Abnormality of the abdominal wall, Abnor... |
ORPHA:322 |
Pontocerebellar Hypoplasia, Type 10 |
|
Underdeveloped nasal alae, Tapered finger, Cryptorchidism, Bulbous nose, Wide nasal bridge, Short... |
OMIM:615803 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Nodular pattern on pulmonary HRCT, Ecchymosis, Emphysema, Repeated pneumothoraces, Cryptorchidism... |
OMIM:130050 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
Geleophysic Dysplasia 2 |
|
Joint stiffness, Limitation of joint mobility, Cone-shaped epiphysis, Short foot, Short palm, Sho... |
OMIM:614185 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Depressed nasal bridge, Anteverted nares, Micrognathia, Missing... |
OMIM:147791 |
Distal Deletion 9P |
|
Short nose, Wide nasal bridge, Hernia, Brachydactyly |
ORPHA:1642 |
Eosinophilic Fasciitis |
|
Fasciitis, Acrocyanosis, Cellulitis |
ORPHA:3165 |
Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent respiratory infections, Death in infancy, Inguinal hernia, Osteomalacia, Recurrent frac... |
ORPHA:534 |
16P13.11 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Cryptorchidism, Talipes equino... |
ORPHA:261236 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose, Arachnodactyly, Micrognathia |
ORPHA:1129 |
Toluene Embryopathy |
|
Cryptorchidism, Short nose, Micrognathia, Tapered finger |
ORPHA:1920 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathia, Preaxial hand polyd... |
OMIM:610536 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Micrognathia... |
ORPHA:1974 |
Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Pneumonia, Bowing of the legs, Hypoplastic ilia, Arthritis, Limb undergrow... |
ORPHA:1855 |
Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Pulmonary edema |
OMIM:267450 |
Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Depressed nasal bridge, Micrognathia, Short thumb, Cryptorchidism, Sm... |
OMIM:268400 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Wide nose, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Long ... |
OMIM:256520 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Micrognathia, Hydrocel... |
OMIM:614080 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Ataxia, Concentric hypertrophic cardiomyopathy, Lethargy, Hypertrophi... |
OMIM:252010 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Rhizomelia, Depressed nasal bridge, Wide anterior fontanel, Tibial bowing, Femoral bowing, Mesome... |
OMIM:616482 |
Ethylene Glycol Poisoning |
|
Cyanosis, Ataxia, Pulmonary edema |
ORPHA:31826 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Bronchogenic cyst |
ORPHA:2357 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Short nose, Anteverted nares, Inguinal hernia |
OMIM:613735 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia |
ORPHA:79107 |
Macrocephaly/Autism Syndrome |
|
Joint laxity, Short nose, Depressed nasal bridge, Hydrocele testis |
OMIM:605309 |
Schinzel-Giedion Syndrome |
|
Inguinal hernia, Overlapping toe, Broad nasal tip, Micrognathia, Wide anterior fontanel, Recurren... |
ORPHA:798 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Postaxial polydactyly, ... |
OMIM:612651 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Broad hallux phalanx, Inguinal hernia, Anteverted nares, Sandal gap, Craniosynostosis... |
ORPHA:363611 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Prominent nose, Abnormal carpal morphology, Hip dysplasia, Limb undergrowth, Clinodactyly of the ... |
ORPHA:319675 |
Au-Kline Syndrome |
|
Overlapping toe, Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal... |
OMIM:616580 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Depressed nasal bridge, Anteverted nares, Tapered finger, Coxa valga, Absent frontal sinuses, Cry... |
OMIM:301040 |
Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Recurrent respiratory infections, Brachydactyly, Anteverted nares, Overlappi... |
ORPHA:177907 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Talipes equinovarus, Short nose, Depressed nasal bridge, Broad columella |
OMIM:617865 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis |
OMIM:250800 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Palpable purpura, Cutis marmorata, Pneumonia, Orchitis, Cardiomyopathy, Isch... |
ORPHA:48435 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Rib fusion, Hernia, Bifid ribs, Short nose |
ORPHA:1394 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Wide nose, Short metacarpal, Anteverted nares, Bifid ste... |
OMIM:303600 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Clinodactyly of the 5th finger, Short nose, Anteverted nares, Underdeveloped nasal alae |
ORPHA:2031 |
Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, Prominent umbilicus, Mitral valve calcification, Prominent superficial b... |
ORPHA:740 |
Malan Syndrome |
|
Long fingers, Short nose, Coxa valga |
OMIM:614753 |
Cystinosis |
|
Rickets |
ORPHA:213 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Diastasis recti, Cardiomegaly, Cryptorchidism, Cardiomyopathy |
OMIM:130650 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Micrognathia, Aplasia of the... |
ORPHA:476126 |
Aspartylglucosaminuria |
|
Recurrent respiratory infections, Inguinal hernia, Abnormal morphology of ulna, Joint stiffness, ... |
ORPHA:93 |
Classical Ehlers-Danlos Syndrome |
|
Uterine prolapse, Inguinal hernia, Prematurely aged appearance, Poor wound healing, Hiatus hernia... |
ORPHA:287 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Rocker bottom foot, Micrognathia, Long fingers, Postaxia... |
ORPHA:521426 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Depressed nasal bridge, Rocker bottom foot, Tapered finger, Cryptorchidism, Finger clinodactyly, ... |
OMIM:601353 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Micrognathia, Cryptorchidism... |
OMIM:619005 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:2835 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Cry... |
ORPHA:116 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Long... |
OMIM:300912 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Preaxial hand polydactyly, Short nose, Micrognathia |
ORPHA:79113 |
Wiedemann-Steiner Syndrome |
|
Aplasia/Hypoplasia of the ribs, Hyperextensibility at elbow, Rhizomelia, Tapered finger, Wide nas... |
ORPHA:319182 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Overlapping toe, Bulbous nose, Wide nasal bridge, Short nose |
OMIM:618571 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Femoral hernia, Anteverted nares, Cryptorchidism, Short nose, Abnormal testis mo... |
ORPHA:96147 |
Acrocallosal Syndrome |
|
Microretrognathia, Finger syndactyly, Inguinal hernia, Toe syndactyly, Duplication of thumb phala... |
OMIM:200990 |
Acquired Purpura Fulminans |
|
Intracranial hemorrhage, Acrocyanosis, Macular purpura |
ORPHA:49566 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Cyanosis |
ORPHA:91359 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Cryptorchidism, Emphysema, Pulmonary fibrosis |
OMIM:620365 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Depressed nasal bridge, Anteverted nares, Mi... |
OMIM:115150 |
Lathosterolosis |
|
Toe syndactyly, Anteverted nares, Micrognathia, Postaxial hand polydactyly, Osteoporosis, Wide na... |
OMIM:607330 |
Slc39A8-Cdg |
|
Osteopenia, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous synd... |
ORPHA:468699 |
Celiac Disease, Susceptibility To, 1 |
|
Abnormality of the abdominal wall, Enamel hypoplasia, Osteoporosis, Rickets |
OMIM:212750 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose, Micrognathia |
OMIM:256600 |
Gapo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Wide anterior fontanel, Umbilical hernia,... |
OMIM:230740 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Syndactyly, Inguinal hernia, Depressed nasal bridge, Rhizomelia, Craniosynostosis, ... |
OMIM:613610 |
Stickler Syndrome |
|
Recurrent respiratory infections, Arachnodactyly, Anteverted nares, Depressed nasal bridge, Protr... |
ORPHA:828 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Atelectasis, Elevated bronchoalveolar lavage fluid neutrophil p... |
OMIM:610978 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Abnormal lung lobation, Narrow greater sciatic notch, Short palm... |
OMIM:312870 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microretrognathia, Joint laxity, Arachnodactyly, Scarring, Diastasis recti, Hiatus hernia, Crypto... |
OMIM:601776 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Monosomy 9Q22.3 |
|
Abnormal rib morphology, Joint hyperflexibility, Polydactyly, Umbilical hernia, Short nose |
ORPHA:77301 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets |
OMIM:607765 |
3Q29 Microdeletion Syndrome |
|
Prominent nasal bridge, Tapered finger, Joint hyperflexibility, Clinodactyly of the 5th finger, S... |
ORPHA:65286 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Short nose, Prominent nasal bridge, Wide nasal bridge, Recurrent pneumonia |
OMIM:619179 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depressed nasal bridge, Choan... |
ORPHA:87 |
Adult-Onset Still Disease |
|
Cartilage destruction, Recurrent pharyngitis, Pleuritis, Arthritis |
ORPHA:829 |
Ogden Syndrome |
|
Congenital hip dislocation, Micrognathia, Clinodactyly of the 5th finger, Microretrognathia, Depr... |
OMIM:300855 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Depressed nasal bridge, Overlapping toe, Craniosynostosis, Broad nasal tip, Tapered finger, Micro... |
OMIM:309590 |
19P13.13 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sandal gap, Long fingers, Clinodactyly, Short nose |
ORPHA:357001 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Anteverted nares, Choanal atresia, Narrow nose, Broad hallux, Tapered finger, 1-2 toe syndactyly,... |
OMIM:301044 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fingers, Contractures of the large ... |
OMIM:617527 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Depressed nasal bridge, Postaxial polydactyly, Aplastic clavicle, Micromelia, Congenital diaphrag... |
OMIM:616546 |
Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Syndactyly, Death in infancy, Depressed nasal bridge, Cranio... |
OMIM:612289 |
Zttk Syndrome |
|
Unilateral lung agenesis, Depressed nasal bridge, Craniosynostosis, Flexion contracture, Small ha... |
OMIM:617140 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele |
ORPHA:2736 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis |
OMIM:261680 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Meconium Aspiration Syndrome |
|
Atelectasis, Pneumothorax, Aspiration pneumonia |
ORPHA:70588 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Rickets |
ORPHA:79303 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Wide anterior fontanel, Short nose, Congenital hip dislocation, Contracture of the proximal inter... |
ORPHA:457279 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Bulbous nose, Depressed nasal bridge, Short nose |
ORPHA:261144 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent nasal bridge, Underdeveloped nasal alae, Aplasia of the distal phalanx of the 5th toe, ... |
ORPHA:364577 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Inguinal hernia, Rickets, Abnormal pulmonary interstitial morphology, R... |
OMIM:613658 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Wide nose, Anteverted nares, Micrognathia, Joint hyperflexibility, Lipoma, Short nose, Broad thumb |
ORPHA:109 |
Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Micrognathia, Ulnar deviation of finger, Talipes equinovarus, Short nose, Brach... |
ORPHA:1358 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Sepsis In Premature Infants |
|
Jaundice, Cyanosis, Petechiae, Purpura |
ORPHA:90051 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Short sternum,... |
OMIM:257300 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Abnormal lung lobatio... |
ORPHA:818 |
8Q24.3 Microdeletion Syndrome |
|
Congenital hip dislocation, Micromelia, Abnormal lung lobation, Finger clinodactyly, Clinodactyly... |
ORPHA:508488 |
Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Cutis marmorata, Lipoatrophy, Cardiomegaly, Calcification of the aor... |
ORPHA:51 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Microretrognathia, Tapered finger, Wide nasal bridge, Hydrocele testis, Short columella, Talipes ... |
OMIM:613603 |
Leukocyte Adhesion Deficiency Type Ii |
|
Overlapping toe, Depressed nasal bridge, Scarring, Recurrent pneumonia, Depressed nasal ridge, Wi... |
ORPHA:99843 |
Cerebrooculonasal Syndrome |
|
Anteverted nares, Prominent nasal bridge, Proboscis, Postaxial polydactyly, Craniosynostosis, Pos... |
OMIM:605627 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Short nose, Flexion contracture, Absence of subcutaneous fat |
OMIM:601675 |
Trisomy 10P |
|
Thumb contracture, Depressed nasal bridge, Anteverted nares, Abnormality of the nose, Micrognathi... |
ORPHA:171929 |
Waardenburg Syndrome Type 1 |
|
Short nose, Wide nasal bridge, Underdeveloped nasal alae |
ORPHA:894 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Short nose, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip |
OMIM:614207 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Wide nose, Micrognathia, Overlapping fingers, Short nose, Adducted thumb |
OMIM:608779 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Wid... |
ORPHA:2751 |
Pallister-Hall Syndrome |
|
Depressed nasal ridge, Abnormal lung lobation, Microretrognathia, Mesoaxial polydactyly, Radial b... |
ORPHA:672 |
Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, Congenital diaphragmatic hernia, Short palm, Clinodactyly of the 5th... |
OMIM:613406 |
Helsmoortel-Van Der Aa Syndrome |
|
Joint laxity, Recurrent respiratory infections, Anteverted nares, Sandal gap, Broad hallux, Broad... |
OMIM:615873 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Microretrognathia, Anteverted nares, Proportionate shortening of all digits, Tapered finger, Smal... |
ORPHA:280633 |
Hydrolethalus |
|
Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Abnormality of the sense of... |
ORPHA:2189 |
Alkaptonuria |
|
Joint stiffness, Abnormality of the nose, Cartilage destruction, Osteoarthritis, Reduced bone min... |
ORPHA:56 |
Degcags Syndrome |
|
Osteopenia, Syndactyly, Toe syndactyly, Anteverted nares, Prominent nasal bridge, Pneumonia, Prom... |
OMIM:619488 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atelectasis, Pleural effusion, Hypersensitivity pneumonitis |
ORPHA:2902 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Short nose, Micrognathia |
OMIM:266810 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Depressed nasal bridge, Concave nasal ridge, Anteverted nares, Short nose |
OMIM:613038 |
Johanson-Blizzard Syndrome |
|
Abnormal nostril morphology, Short nose, Death in infancy, Underdeveloped nasal alae |
ORPHA:2315 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Omphalocele, Short columella |
ORPHA:3164 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Depressed nasal bridge, Cryptorchidism, Gout, Death in childhood, Short nose, Convex nasal ridge |
OMIM:300661 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
Dyschondrosteosis-Nephritis Syndrome |
|
Ulnar bowing, Radial bowing, Aplasia/Hypoplasia of the radius, Micromelia |
ORPHA:1765 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Progressive flexion contractures, Equinus calcaneus, 2-3 toe syndactyly, Bilateral ... |
ORPHA:522077 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Rickets |
OMIM:616026 |
Ellis Van Creveld Syndrome |
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Micromelia, Capitate-hamate fusion, Cryptorchidism, Genu valgum, Aplasia/Hypoplasia of the lungs,... |
ORPHA:289 |
Craniofacial-Deafness-Hand Syndrome |
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Short nose, Ulnar deviation of the hand, Depressed nasal bridge, Narrow naris |
OMIM:122880 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Rickets, Osteomalacia |
OMIM:227810 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery dilatation, Inguinal hernia, Arachnodactyly, Depressed nasal bridge, Congenital ... |
OMIM:614437 |
Moderate Hemophilia A |
|
Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joint hemorrhage |
ORPHA:169805 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Multiple lipomas, Osteomalacia, Chondrocalcinosis |
OMIM:600740 |
22Q11.2 Deletion Syndrome |
|
Inguinal hernia, Arachnodactyly, Prominent nasal bridge, Choanal atresia, Micrognathia, Abnormal ... |
ORPHA:567 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
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Prominent nasal bridge, Micrognathia, Broad nasal tip, Wide nasal bridge, Short nose |
OMIM:300749 |
Ring Chromosome 7 Syndrome |
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Anteverted nares, Prominent nasal bridge, Prominent crus of helix, Small hand, Wide nasal bridge,... |
ORPHA:1449 |
Lowe Oculocerebrorenal Syndrome |
|
Osteomalacia, Camptodactyly of finger, Cryptorchidism, Hip dislocation, Rickets, Corneal scarring... |
OMIM:309000 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Cyanosis, Medial calcification of large arteries, Transient ischemic att... |
ORPHA:51608 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Recurrent infections due to aspiration, Acrocyanosis |
OMIM:223900 |
Microform Holoprosencephaly |
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Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Short nose |
ORPHA:280200 |
Dend Syndrome |
|
Clinodactyly of the 4th finger, Short nose, Anteverted nares |
ORPHA:79134 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Lipodystrophy, Abnormal cartilage morphology, Bone cyst, Osteolysis, M... |
ORPHA:2396 |
Adenylosuccinase Deficiency |
|
Short nose, Anteverted nares |
OMIM:103050 |
Lathosterolosis |
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Toe syndactyly, Anteverted nares, Micrognathia, Bulbous nose, Postaxial hand polydactyly, Postaxi... |
ORPHA:46059 |
Smith-Lemli-Opitz Syndrome |
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Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndactyly, Abnormal lun... |
OMIM:270400 |
Peters Plus Syndrome |
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Inguinal hernia, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micromelia, Micrognath... |
ORPHA:709 |
Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Depressed nasal bridge, Anteverted nares, Micrognathia, Metatarsus ad... |
OMIM:244450 |
Khan-Khan-Katsanis Syndrome |
|
Postaxial polydactyly, Micrognathia, Corneal scarring, Joint contracture, Clinodactyly, Short nose |
OMIM:618460 |
Cornelia De Lange Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Abnormal morphology of... |
ORPHA:199 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Cadds |
|
Short nose, Micrognathia |
ORPHA:369942 |
Cardiofaciocutaneous Syndrome |
|
Depressed nasal bridge, Anteverted nares, Abnormal morphology of ulna, Cryptorchidism, Genu valgu... |
ORPHA:1340 |
Neonatal Marfan Syndrome |
|
Long toe, Arachnodactyly, Lipoatrophy, Micrognathia, Long fingers, Flexion contracture, Wide nasa... |
ORPHA:284979 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Difficulty walking, Knee flexion contracture |
OMIM:617239 |
Wilson Disease |
|
Osteomalacia, Osteoarthritis, Osteoporosis, Hyposmia, Chondrocalcinosis, Joint hypermobility |
OMIM:277900 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
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Syndactyly, Sandal gap, Broad hallux, Micromelia, Brachydactyly |
OMIM:614800 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Anteverted nares, Micrognathia, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, As... |
ORPHA:444077 |
White-Kernohan Syndrome |
|
Joint laxity, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Hip dysplasia,... |
OMIM:619426 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly |
OMIM:600092 |
Wrinkly Skin Syndrome |
|
Osteopenia, Recurrent sinopulmonary infections, Inguinal hernia, Congenital hip dislocation, Lipo... |
ORPHA:2834 |
Noonan Syndrome 3 |
|
Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosynostosis, Cryptorchidism, Left unila... |
OMIM:609942 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Joint stiffness, Flexion contracture, Hernia, Short nose |
ORPHA:505248 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Depressed nasal bridge, Arachnodactyly, Sagittal craniosynostosis, Abse... |
ORPHA:500150 |
Ayme-Gripp Syndrome |
|
Depressed nasal bridge, Tapered finger, Wide nasal bridge, Radioulnar synostosis, Camptodactyly, ... |
OMIM:601088 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Short nose, Anteverted nares |
OMIM:234050 |
Distal Renal Tubular Acidosis |
|
Increased susceptibility to fractures, Rickets, Osteomalacia, Reduced bone mineral density |
ORPHA:18 |
1P21.3 Microdeletion Syndrome |
|
Short nose, Micrognathia, Joint hypermobility, Broad nasal tip |
ORPHA:293948 |
Zygomycosis |
|
Fasciitis, Epistaxis, Atelectasis, Pneumothorax, Osteolysis, Nasal congestion, Acute infectious p... |
ORPHA:73263 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Recurrent respiratory infections, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal brid... |
ORPHA:2282 |
Pitt-Hopkins Syndrome |
|
Ataxia, Hiatus hernia, Cryptorchidism, Gait ataxia, Acrocyanosis |
ORPHA:2896 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Broad toe, Anteverted nares, Broad nasal tip, Long nose, Tapered finger, Bulbous nose, Short thum... |
OMIM:619522 |
Goodpasture Syndrome |
|
Cyanosis, Nodular pattern on pulmonary HRCT, Hemosiderin-laden macrophages in bronchoalveolar flu... |
OMIM:233450 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Joint laxity, Sandal gap, Broad nasal tip, Long fingers, Recurrent pneumonia, Wide nasal bridge, ... |
OMIM:620330 |
Reactive Arthritis |
|
Osteomyelitis, Abnormal pleura morphology, Joint stiffness, Cartilage destruction, Enthesitis, Ar... |
ORPHA:29207 |
Toriello-Lacassie-Droste Syndrome |
|
Short nose, Anteverted nares, Brachydactyly, Short palm |
ORPHA:3339 |
Deeah Syndrome |
|
Death in infancy, Overlapping fingers, Cryptorchidism, Death in adolescence, Death in childhood, ... |
OMIM:619004 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Inguinal hernia, Prominent nasal bridge, Broad nasal tip, Underdeveloped nasal ala... |
ORPHA:268261 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Atelectasis, Abnormal pulmonary interstitial morphology, Bronchiectasis, Recurrent lower respirat... |
OMIM:620233 |
Van Esch-O'Driscoll Syndrome |
|
Depressed nasal bridge, Pulmonary artery stenosis, Short middle phalanx of finger, Clinodactyly o... |
OMIM:301030 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Atelectasis, Recurrent lower respiratory tract infections, Flexion contracture, Increased connect... |
ORPHA:258 |
Whim Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... |
ORPHA:51636 |
Lujo Hemorrhagic Fever |
|
Atelectasis, Rhinitis, Stiff neck |
ORPHA:319213 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Inguinal hernia, Wide anterior fontanel, Pneumothorax, Hip dislocation, Recurrent p... |
ORPHA:90349 |
Cystinosis, Nephropathic |
|
Metaphyseal widening, Rickets, Genu valgum, Hypophosphatemic rickets, Rachitic rosary |
OMIM:219800 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Brachydactyly, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Short... |
OMIM:617157 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Neonatal death, Short nose |
OMIM:252160 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Osteomalacia, Pulmonary fibrosis, Increased susceptibility to fractures |
ORPHA:3337 |
Williams-Beuren Syndrome |
|
Hallux valgus, Osteopenia, Joint laxity, Inguinal hernia, Depressed nasal bridge, Anteverted nare... |
OMIM:194050 |
Toriello-Carey Syndrome |
|
Micrognathia, Wide anterior fontanel, Cryptorchidism, Clinodactyly, Short nose, Brachydactyly |
ORPHA:3338 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory tract infection, Atelectasis, Flexion contracture, Osteoporosis |
ORPHA:365 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Cyanosis |
ORPHA:293987 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Convex nasal ridge, Flexion contracture, Genu valgum, Short nose, Decreased testicular size |
OMIM:619321 |
Granulomatous Disease, Chronic, X-Linked |
|
Osteomyelitis, Atelectasis, Recurrent pneumonia, Cellulitis, Pleural effusion |
OMIM:306400 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Micromelia, Prominent nasal tip |
ORPHA:1675 |
Relapsing Polychondritis |
|
Chondritis of pinna, Atelectasis, Limitation of joint mobility, Arthritis, Chondritis |
ORPHA:728 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Pneumothorax, Shagreen patch, Chylothorax, Emphyse... |
ORPHA:538 |
Hypermobile Ehlers-Danlos Syndrome |
|
Inguinal hernia, Venous insufficiency, Genital hernia, Cystocele, Aplasia/Hypoplasia of the abdom... |
ORPHA:285 |
Primary Hyperoxaluria |
|
Cardiomyopathy, Acrocyanosis, Cutis marmorata |
ORPHA:416 |
Chand Syndrome |
|
Atelectasis, Short fifth metatarsal, Depressed nasal bridge |
ORPHA:1401 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Joint laxity, Osteomyelitis, Anteverted nares, Bulbous nose, Wide nasal bridge, Depressed nasal t... |
OMIM:619475 |
Myasthenia Gravis |
|
Acrocyanosis |
ORPHA:589 |
Sarcoidosis, Susceptibility To, 1 |
|
Bone cyst, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pleural effusion... |
OMIM:181000 |
Infantile Nephropathic Cystinosis |
|
Rickets |
ORPHA:411629 |
Familial Hypocalciuric Hypercalcemia |
|
Lipoma, Osteomalacia, Chondrocalcinosis |
ORPHA:405 |
Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata, Peripheral arterial stenosis |
OMIM:259900 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... |
OMIM:606721 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Pneumonia, Osteomalacia, Bronchitis, Bronchiectasis, Arthritis |
OMIM:619381 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Atelectasis, Recurrent respiratory infections, Pulmonary fibrosis, Death in childhood |
OMIM:618278 |
Penile Agenesis |
|
Depressed nasal bridge, Cloacal abnormality, Cryptorchidism, Bilateral lung agenesis, Bilateral t... |
ORPHA:49 |
Frontofacionasal Dysplasia |
|
Frontal cutaneous lipoma, Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Shor... |
OMIM:229400 |
Digeorge Syndrome |
|
Inguinal hernia, Femoral hernia, Micrognathia, Atelectasis, Recurrent pneumonia, Hydrocele testis... |
OMIM:188400 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Short nose, Rhinitis, Depressed nasal bridge, Underdeveloped nasal alae |
OMIM:305100 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Short nose |
OMIM:252150 |
Peroxisome Biogenesis Disorder 4B |
|
Short nose |
OMIM:614863 |