Amelia, Posterior, With Pelvic And Pulmonary Hypoplasia Syndrome |
|
Amelia |
OMIM:601360 |
Amelia And Terminal Transverse Hemimelia |
|
Amelia |
OMIM:104400 |
Hhhh Syndrome |
|
Hemiatrophy |
OMIM:306960 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Low-set ears, Hypoplastic cervical vertebrae, Radial bowing, Abnormal earlobe morphology, Limitat... |
ORPHA:93307 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Low-set ears, Velopharyngeal insufficiency, Cutis marmorata, Radioulnar synostosis, Vertebral cle... |
OMIM:614701 |
Kniest Dysplasia |
|
Delayed epiphyseal ossification, Limitation of joint mobility, Recurrent otitis media, Hip contra... |
OMIM:156550 |
Omodysplasia 2 |
|
Limited elbow flexion, Recurrent otitis media, Micrognathia, Dislocated radial head, Hypoplastic ... |
OMIM:164745 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Abnormal joint... |
ORPHA:1427 |
Osseous Heteroplasia, Progressive |
|
Limb undergrowth |
OMIM:166350 |
Atelosteogenesis, Type I |
|
Low-set ears, Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Encephalocele, Neo... |
OMIM:108720 |
Fibrochondrogenesis 1 |
|
Thin ribs, Low-set ears, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad l... |
OMIM:228520 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Low-set ears, Absent forearm, Wide nasal bridge, Short tibia, Clinodactyly, Oligodactyly, Overlap... |
OMIM:201170 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... |
OMIM:613073 |
Achondroplasia |
|
Radial bowing, Recurrent otitis media, Narrow vertebral interpedicular distance, Genu varum, Mega... |
OMIM:100800 |
Microphthalmia With Limb Anomalies |
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Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, Interrupted inferi... |
OMIM:206920 |
Atelosteogenesis, Type Iii |
|
Rhizomelia, Tombstone-shaped proximal phalanges, Cervical kyphosis, Radial bowing, Sandal gap, Kn... |
OMIM:108721 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Low-set ears, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof,... |
OMIM:151210 |
Seckel Syndrome 1 |
|
Ivory epiphyses, Low-set ears, Micrognathia, Talipes, Pes planus, High palate, Dislocated radial ... |
OMIM:210600 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Rhizomelia, Brachydactyly, Postaxial hand polydactyly, Short foot, Short metacarpal, Mesomelia |
OMIM:611263 |
Acrodysostosis |
|
Hearing impairment, Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morpholo... |
ORPHA:950 |
Marshall Syndrome |
|
Low-set ears, Radial bowing, Thick upper lip vermilion, Recurrent otitis media, Micrognathia, Sen... |
OMIM:154780 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Genu valgum, ... |
ORPHA:166016 |
Campomelic Dysplasia |
|
Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv... |
OMIM:114290 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Low-set ears, Abnormality of the outer ear, Small hand, Broad thumb, Micrognathia, Narrow mouth, ... |
ORPHA:251028 |
Acromesomelic Dysplasia 4 |
|
Low-set ears, Radial bowing, Prominent deltoid tuberosities, Genu valgum, Chronic constipation, B... |
OMIM:619636 |
Multiple Synostoses Syndrome 1 |
|
Bilateral conductive hearing impairment, Carpal synostosis, Thick upper lip vermilion, Cutaneous ... |
OMIM:186500 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea, Pulmonary hypoplasia |
OMIM:615228 |
Stuve-Wiedemann Syndrome 1 |
|
Thin ribs, Low-set ears, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal raref... |
OMIM:601559 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Aplasia/hypoplasia involving bones of the extremities, Platyspondyly, Arthralgia of the hip, Broa... |
ORPHA:1856 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplastic scapulae, Atresia of the external auditory canal, Micrognathia, Narrow mouth, Scapulo... |
OMIM:602471 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, ... |
OMIM:268310 |
Microphthalmia With Limb Anomalies |
|
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, F... |
ORPHA:1106 |
Langer Mesomelic Dysplasia |
|
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... |
OMIM:249700 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Toe syndactyly, Open bite, Narrow mouth, High palate, Short nose, Short toe, Downturned corners o... |
ORPHA:1327 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Carious teeth, Hearing impairment, Fibular bowing, Rickets, Bulg... |
OMIM:277440 |
Saul-Wilson Syndrome |
|
Hypoplasia of the odontoid process, Hearing impairment, Micrognathia, Sensorineural hearing impai... |
OMIM:618150 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
Leri-Weill Dyschondrosteosis |
|
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... |
OMIM:127300 |
Osteopathia Striata With Cranial Sclerosis |
|
Low-set ears, Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Arachnod... |
OMIM:300373 |
Osteogenesis Imperfecta, Type Iii |
|
Thin ribs, Dentinogenesis imperfecta, Wide anterior fontanel, Slender long bone, Hearing impairme... |
OMIM:259420 |
Ulnar Hemimelia |
|
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... |
ORPHA:93320 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Moyamoya phenomenon, Hypoplastic iliac wing... |
OMIM:210720 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm, Mesomelic arm... |
OMIM:249710 |
Schinzel-Giedion Syndrome |
|
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Overlapping toe, Overlappi... |
ORPHA:798 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Short distal phalanx of finger, Broad thumb, Toe syndactyly, Broad hallux, Conductive hearing imp... |
OMIM:184460 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... |
ORPHA:93315 |
3M Syndrome |
|
Thin ribs, Short neck, Everted lower lip vermilion, Hypoplastic ischia, Abnormality of the elbow,... |
ORPHA:2616 |
Mullegama-Klein-Martinez Syndrome |
|
Low-set ears, Atresia of the external auditory canal, Micrognathia, Sensorineural hearing impairm... |
OMIM:301022 |
Glass Syndrome |
|
Low-set ears, Micrognathia, Narrow mouth, Arachnodactyly, Talipes equinovarus, Long nose, High pa... |
OMIM:612313 |
Otopalatodigital Syndrome, Type Ii |
|
Low-set ears, Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers... |
OMIM:304120 |
Orofaciodigital Syndrome Vi |
|
Low-set ears, Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, Agenesis of corpus cal... |
OMIM:277170 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Short tibia, Encephalocele, Anal atresia, Flat acetabular roof, Patent ductus arteri... |
OMIM:616300 |
Cenani-Lenz Syndrome |
|
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Hearing impa... |
ORPHA:3258 |
Lethal Faciocardiomelic Dysplasia |
|
Short 5th finger, Microglossia, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial c... |
ORPHA:1972 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hearing impairment, Hypoplastic iliac win... |
OMIM:609945 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Low-set ears, Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short... |
OMIM:268305 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Bilateral conductive hearing impairment, Micrognathia, Absent stapes head, Abnormality of the mal... |
OMIM:128980 |
Faciocardiomelic Dysplasia, Lethal |
|
Short 5th finger, Radial deviation of the hand, Microglossia, Short thumb, Retrognathia, Microgna... |
OMIM:227270 |
Campomelic Dysplasia |
|
Low-set ears, Hearing impairment, Micrognathia, Bowing of the long bones, Talipes equinovarus, Sh... |
ORPHA:140 |
Kinsship Syndrome |
|
Low-set ears, Ankyloglossia, Micrognathia, Chronic constipation, Short neck, Pes planus, Dandy-Wa... |
OMIM:619297 |
Acro-Renal-Mandibular Syndrome |
|
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Short neck,... |
ORPHA:958 |
Kyphomelic Dysplasia |
|
Low-set ears, Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Ant... |
OMIM:211350 |
Shox-Related Short Stature |
|
Genu valgum, Micrognathia, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, ... |
ORPHA:314795 |
Astley-Kendall Dysplasia |
|
Micromelia |
ORPHA:85175 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... |
ORPHA:93314 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... |
ORPHA:1788 |
Van Bogaert-Hozay Syndrome |
|
Tooth malposition, Micrognathia, Osteolytic defects of the phalanges of the hand, Abnormal pinna ... |
OMIM:277150 |
Eiken Syndrome |
|
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Limited elb... |
ORPHA:79106 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia, Death in infancy |
OMIM:254120 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Joint dislocation, Clinodactyly, Widely spaced teeth, Respiratory distress, Feeding difficulties,... |
OMIM:300934 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Mesomelia, Platyspondyly, Rhizomelia, Wide anterior fontanel, Gastroesophageal reflux, Hearing im... |
OMIM:616482 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Low-set ears, Clinodactyly, Long philtrum, Micrognathia, Malar flattening, Thin upper lip vermili... |
ORPHA:357175 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Low-set ears, Clinodactyly, Downturned corners of mouth, Long philtrum, Micrognathia, Malar flatt... |
OMIM:615162 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Type II pneumocyte ... |
OMIM:263000 |
Postaxial Acrofacial Dysostosis |
|
Cupped ear, Finger syndactyly, Conductive hearing impairment, Camptodactyly of finger, Low-set, p... |
ORPHA:246 |
Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Aplasia/Hypoplasia of the patella,... |
ORPHA:3320 |
Phocomelia, Schinzel Type |
|
Radial bowing, Abnormal tibia morphology, Fibular aplasia, Micrognathia, Humeroradial synostosis,... |
ORPHA:2879 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... |
ORPHA:240 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Wide nasal bridge, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia... |
ORPHA:2256 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... |
ORPHA:96334 |
Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... |
OMIM:223800 |
Premature Aging Syndrome, Penttinen Type |
|
Thin ribs, Delayed cranial suture closure, Micrognathia, Sensorineural hearing impairment, Flexio... |
OMIM:601812 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Hearing impairment, Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, I... |
OMIM:143095 |
Symphalangism, Proximal, 1A |
|
Distal symphalangism of hands, Conductive hearing impairment, Stapes ankylosis, Aplasia/Hypoplasi... |
OMIM:185800 |
Spondyloperipheral Dysplasia |
|
Broad thumb, Absent styloid process of ulna, Sensorineural hearing impairment, Short neck, Flat a... |
OMIM:271700 |
Lethal Osteosclerotic Bone Dysplasia |
|
Low-set ears, Retrognathia, Delayed cranial suture closure, Respiratory distress, Gingival overgr... |
ORPHA:1832 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Recurrent otitis media, Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Femo... |
OMIM:608940 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Low-set ears, Natal tooth, Short tibia, Micrognathia, Neonatal death, Short neck, Anal atresia, A... |
OMIM:617925 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Talipes equino... |
OMIM:271640 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Delay... |
OMIM:264700 |
Microcephaly-Micromelia Syndrome |
|
Low-set ears, Absent thumb, Short tibia, Micromelia, Aplasia/Hypoplasia of the corpus callosum, O... |
OMIM:251230 |
Fibular Hemimelia |
|
Toe syndactyly, Limitation of joint mobility, Structural foot deformity, Finger syndactyly, Short... |
ORPHA:93323 |
Ophthalmomandibulomelic Dysplasia |
|
Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Tempor... |
OMIM:164900 |
Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... |
OMIM:200700 |
Weismann-Netter Syndrome |
|
Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Calvarial hyperostosis, Squared iliac ... |
OMIM:112350 |
Geroderma Osteodysplasticum |
|
Periodontitis, Beaking of vertebral bodies, Irregular vertebral endplates, Hyperextensibility of ... |
OMIM:231070 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Intestinal malrotation, Cerebral calcification, Micrognathia, Tibial bowing, Abnor... |
ORPHA:3035 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... |
OMIM:602111 |
Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Micrognathia, Thick anterior alveolar ridges, Talipes e... |
ORPHA:2839 |
Cartilage-Hair Hypoplasia |
|
Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas... |
ORPHA:175 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aplasia/Hypoplasia of fingers, Microglossia, Respiratory distress, Temporomandibular joint ankylo... |
ORPHA:141152 |
Osteogenesis Imperfecta, Type X |
|
Thin ribs, Genu valgum, Fibular bowing, Micrognathia, Death in childhood, Bowing of the long bone... |
OMIM:613848 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Neonatal death, Tachypnea, Paraseptal emphysema, Reticular pattern on pulmo... |
OMIM:610921 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
Van Den Ende-Gupta Syndrome |
|
Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Mi... |
OMIM:600920 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormal ilium morphology, Genu valgum, Cleft soft palate, Micrognathia, Metaphyseal dysplasia, A... |
ORPHA:93316 |
Osteogenesis Imperfecta, Type Viii |
|
Thin ribs, Radial bowing, Decreased skull ossification, Multiple prenatal fractures, Short metaca... |
OMIM:610915 |
Acromesomelic Dysplasia 2C |
|
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... |
OMIM:201250 |
Auriculocondylar Syndrome 2A |
|
Low-set ears, Hearing impairment, Micrognathia, Narrow mouth, Stenosis of the external auditory c... |
OMIM:614669 |
Endocrine-Cerebroosteodysplasia |
|
Low-set ears, Natal tooth, Focal polymicrogyria, Thick upper lip vermilion, Fibular bowing, Micro... |
OMIM:612651 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Hypoxemia, Pulmonary hypoplasia |
ORPHA:2140 |
Cousin Syndrome |
|
Low-set ears, Hypoplastic scapulae, Joint contracture of the hand, Hearing impairment, Hypoplasti... |
OMIM:260660 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Femoral ... |
OMIM:600785 |
Melnick-Needles Syndrome |
|
Tooth malposition, Hypoplastic scapulae, Delayed cranial suture closure, Recurrent otitis media, ... |
OMIM:309350 |
Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... |
ORPHA:3344 |
Ulnar Hypoplasia |
|
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... |
OMIM:191440 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Multiple unerupted teeth,... |
OMIM:600002 |
Osebold-Remondini Syndrome |
|
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... |
OMIM:112910 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar flattening, Short 4th ... |
OMIM:118651 |
Otopalatodigital Syndrome Type 2 |
|
Low-set ears, Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Carpal synostosi... |
ORPHA:90652 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Low-set ears, Abnormality of the dentition, Lambdoidal craniosynostosis, Osteopenia, Downturned c... |
OMIM:615398 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Low-set ears, Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Wide nasal bri... |
OMIM:617102 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rachitic rosary, Rickets, S... |
OMIM:307800 |
Otoonychoperoneal Syndrome |
|
Low-set ears, Ankle flexion contracture, Hip contracture, Knee flexion contracture, Posteriorly r... |
OMIM:259780 |
Craniosynostosis And Dental Anomalies |
|
Lambdoidal craniosynostosis, Clinodactyly, High palate, Chronic otitis media, Coronal craniosynos... |
OMIM:614188 |
Perching Syndrome |
|
Respiratory distress, Cyanosis, Dysphagia, Joint contracture, Camptodactyly, High palate, Scolios... |
OMIM:617055 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Low-set ears, Aplasia/Hypoplasia of the corpus callosum, Microgn... |
ORPHA:1988 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Limitation of joint mobility, Finger syndac... |
ORPHA:3329 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... |
OMIM:618019 |
Orofaciodigital Syndrome Iv |
|
Low-set ears, Toe syndactyly, Clinodactyly, Short tibia, Cerebral atrophy, Short finger, Hamartom... |
OMIM:258860 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Platyspondyly, Radial bowing, Micromelia, Preaxial polydactyly, Intestinal malrotation, Vertebral... |
OMIM:617866 |
Ritscher-Schinzel Syndrome 3 |
|
Cerebellar vermis hypoplasia, Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling,... |
OMIM:619135 |
Fountain Syndrome |
|
Craniofacial hyperostosis, Erythema, Cutis marmorata, Sensorineural hearing impairment, Abnormal ... |
ORPHA:3219 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Abnormal vertebral morphology, Small hand, Aortic root aneurysm, Hearing impairment, Micrognathia... |
ORPHA:444077 |
Slc35A2-Cdg |
|
Short tibia, Feeding difficulties, Hypoplasia of the corpus callosum, Sensorineural hearing impai... |
ORPHA:356961 |
Postaxial Acrofacial Dysostosis |
|
Low-set ears, Congenital hip dislocation, Pyloric stenosis, Conical tooth, Cupped ear, Short thum... |
OMIM:263750 |
W Syndrome |
|
Upper lip pit, Broad uvula, Radial bowing, Clinodactyly, Elbow dislocation, Pes cavus, Submucous ... |
ORPHA:2804 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... |
OMIM:265120 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Hypoplasia of the antihelix, Conductive hearing impairment, A... |
ORPHA:3232 |
Platyspondylic Dysplasia, Torrance Type |
|
Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Low-set... |
ORPHA:85166 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... |
OMIM:274000 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Ectrodactyly, Long philtrum, R... |
ORPHA:2878 |
Alagille Syndrome |
|
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Abnormal form of the verteb... |
ORPHA:52 |
Cranioectodermal Dysplasia 1 |
|
Low-set ears, Clinodactyly, Anodontia, Broad distal phalanges of all fingers, Ectodermal dysplasi... |
OMIM:218330 |
Odontochondrodysplasia 1 |
|
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ... |
OMIM:184260 |
Acrorenal-Mandibular Syndrome |
|
Thin ribs, Low-set ears, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudi... |
OMIM:200980 |
Moebius Syndrome |
|
Hand clenching, Clinodactyly, Micrognathia, Lower limb undergrowth, Talipes equinovarus, Short ne... |
OMIM:157900 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Wide nasal bridge, Clubbing of toes, Recurrent otitis media, Tetralogy of Fallot, Micrognathia, C... |
ORPHA:3304 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os... |
ORPHA:93356 |
Baller-Gerold Syndrome |
|
Abnormal vertebral morphology, Low-set ears, Lambdoidal craniosynostosis, Erythema, Carpal synost... |
OMIM:218600 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta, Osteopenia, Otosclerosis, Hearing impairment, Bruising susceptibility,... |
OMIM:166200 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Talipes equinovalgus, Osteomyelitis, Micrognathia, Tibial bowing, Self-mutilation, Congenital bil... |
ORPHA:453510 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Alg3-Cdg |
|
Macroglossia, Osteopenia, Arthrogryposis multiplex congenita, Hypoplasia of the pons, Hearing imp... |
ORPHA:79321 |
Catel-Manzke Syndrome |
|
Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Low-set, posteriorly rotat... |
ORPHA:1388 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi... |
ORPHA:2751 |
Lethal Kniest-Like Dysplasia |
|
Platyspondyly, Hypoplastic ilia, Low-set ears, Flared metaphysis, Broad long bones, Abnormal cart... |
ORPHA:2347 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hypoplastic iliac wing, Long hallux, Genu valgum, Delayed pubic bone ossification, Talipes equino... |
OMIM:613330 |
Aarskog-Scott Syndrome |
|
Small hand, Finger syndactyly, Broad foot, Talipes, Short neck, Pes planus, Everted lower lip ver... |
ORPHA:915 |
Distal Duplication 5Q |
|
Low-set ears, Carious teeth, Absent thumb, Long philtrum, Short nose, Micrognathia, Narrow mouth,... |
ORPHA:96097 |
Odontochondrodysplasia |
|
Platyspondyly, Dentinogenesis imperfecta, Cone-shaped epiphysis, Square pelvis bone, Micromelia, ... |
ORPHA:166272 |
Acrocephalopolydactyly |
|
Genu recurvatum, Short neck, Limb undergrowth, Brachydactyly, Short long bone, Protuberant abdome... |
ORPHA:221054 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Low-set ears, Radial bowing, Long ear, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Hum... |
OMIM:276820 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ... |
OMIM:603546 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Carious teeth, Arteriovenous malformation, Downturned corners of... |
ORPHA:1110 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Osteomalacia, Rickets of the lower limbs, Sclerotic vertebral endplates, Sensorineural hearing im... |
ORPHA:289176 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Low-set ears, Hand clenching, Abnormal anterior horn cell morphology, Retrognathia, Cerebral atro... |
OMIM:611890 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Low-set ears, Delayed cranial suture closure, Cerebral calcification, Micrognathia, High, narrow ... |
ORPHA:2780 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Rhizomelia, Short tibia, Sandal gap, Poor suck, Respiratory distress, Butterfly vertebrae, Short ... |
OMIM:607143 |
Atelosteogenesis Type Ii |
|
Low-set ears, Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Genu valg... |
ORPHA:56304 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Narrow mouth, Fibular hypoplasia, Su... |
OMIM:612447 |
Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Hearing impairment, Abnormal shoulder morphology, Cervical C... |
ORPHA:2345 |
Aase-Smith Syndrome |
|
Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp... |
ORPHA:916 |
Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... |
ORPHA:90646 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Wide nasal bridge, Cupped ear, Anteriorly placed anus, Micrognathia, Hearing abnormality, Microce... |
ORPHA:1352 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
Phaver Syndrome |
|
Low-set ears, Aplasia/Hypoplasia of the earlobes, Broad thumb, Radioulnar synostosis, Hypoplastic... |
ORPHA:2876 |
Aminopterin/Methotrexate Embryofetopathy |
|
Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Encephalocele, Talipe... |
ORPHA:1908 |
Cenani-Lenz Syndactyly Syndrome |
|
Broad hallux, Micrognathia, Malar flattening, Radioulnar synostosis, Hypodontia, Enamel hypoplasi... |
OMIM:212780 |
Ivic Syndrome |
|
Hearing impairment, Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carp... |
OMIM:147750 |
Acromesomelic Dysplasia, Grebe Type |
|
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... |
ORPHA:2098 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio... |
OMIM:600081 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... |
OMIM:156500 |
Fetal Akinesia Deformation Sequence 4 |
|
Low-set ears, Wide nasal bridge, Arthrogryposis multiplex congenita, Retrognathia, 11 pairs of ri... |
OMIM:618393 |
Meckel Syndrome, Type 8 |
|
Low-set ears, Occipital encephalocele, Abdominal distention, Cleft upper lip, Encephalocele, Poly... |
OMIM:613885 |
Trisomy 20P |
|
Finger syndactyly, Micrognathia, Abnormal antihelix morphology, Talipes, Short neck, Everted lowe... |
ORPHA:261318 |
Acromesomelic Dysplasia 1 |
|
Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ... |
OMIM:602875 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Agenesis of corpus callosum, Talipes equinovarus, Anal atresia, Cone-shaped epiphysis, Hamartoma ... |
OMIM:613091 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Broad thumb, Clinodactyly, Hearing impairment, Cleft soft palate, Micrognathia, Sensorineural hea... |
OMIM:616331 |
Rhyns Syndrome |
|
Osteopenia, Conductive hearing impairment, Radial bowing, Sensorineural hearing impairment, Brach... |
OMIM:602152 |
Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis |
OMIM:156232 |
Tetrasomy 5P |
|
Low-set ears, Wide nasal bridge, Long philtrum, Respiratory distress, Short nose, Overlapping toe... |
ORPHA:3309 |
17Q24.2 Microdeletion Syndrome |
|
Wide nasal bridge, Tooth malposition, Broad thumb, Abnormality of the ankle, Otosclerosis, Upper ... |
ORPHA:529962 |
Brachydactyly Type A1 |
|
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... |
ORPHA:93388 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Low-set ears, Abnormality of the outer ear, Absent tragus, Hypoplasia of the maxilla, Conductive ... |
ORPHA:79113 |
Intestinal Dysmotility Syndrome |
|
Low-set ears, Diarrhea, Decreased intestinal transit time, Abdominal distention, Projectile vomit... |
OMIM:620045 |
Mesomelia-Synostoses Syndrome |
|
Abnormal vertebral morphology, Hearing impairment, Micrognathia, Short foot, Partial fusion of pr... |
OMIM:600383 |
Bronchopulmonary Dysplasia |
|
Atelectasis, Respiratory distress, Emphysema, Central apnea, Hyperoxemia, Dyspnea, Abnormal lung ... |
ORPHA:70589 |
Femur-Fibula-Ulna Complex |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... |
ORPHA:2019 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rachitic rosary, Rickets, Delayed... |
ORPHA:289157 |
Frontonasal Dysplasia 1 |
|
Low-set ears, Cranium bifidum occultum, Hypoplasia of the maxilla, Joint contracture of the hand,... |
OMIM:136760 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... |
ORPHA:2634 |
Achondrogenesis Type 1A |
|
Abdominal distention, Micromelia, Long philtrum, Umbilical hernia, Abnormal enchondral ossificati... |
ORPHA:93299 |
Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta, Femoral bowing present at birth, straightening with time, Otosclerosis... |
OMIM:166220 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Death in childhood, Death in infancy, Pulmonary hypoplasia |
OMIM:614096 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Fibular aplasia, Cleft soft palate, Micrognathia, Short neck, Tarsal synostosis, Mes... |
ORPHA:2756 |
Neu-Laxova Syndrome 2 |
|
Low-set ears, Toe syndactyly, Scoliosis, Finger syndactyly, Micrognathia, Cerebellar hypoplasia, ... |
OMIM:616038 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Recurrent viral upper respiratory tract i... |
OMIM:619773 |
Idiopathic Pulmonary Fibrosis |
|
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Orthodeoxia, Exertional dyspne... |
ORPHA:2032 |
Grant Syndrome |
|
Wormian bones, Micrognathia, Tibial bowing, Down-sloping shoulders |
OMIM:138930 |
Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea |
OMIM:267450 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
Osteogenesis Imperfecta, Type Xii |
|
Generalized osteoporosis, Dentinogenesis imperfecta, Hypermobility of interphalangeal joints, Del... |
OMIM:613849 |
Czeizel-Losonci Syndrome |
|
1-2 finger syndactyly, Hypoplastic helices, Clubbing of toes, Ectrodactyly, Low-set, posteriorly ... |
ORPHA:2437 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio... |
OMIM:241530 |
Rubinstein-Taybi Syndrome 1 |
|
Low-set ears, Broad thumb, Hearing impairment, Delayed cranial suture closure, Hypoplastic iliac ... |
OMIM:180849 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Abnormal helix morphology, Short thumb, Preaxial hand polydactyly... |
ORPHA:1120 |
Carpenter Syndrome 1 |
|
Low-set ears, Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow... |
OMIM:201000 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Greenberg Dysplasia |
|
Low-set ears, Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification cen... |
OMIM:215140 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal epiphysis morphology, Retrognathia, Elbow dislocation, Camptodactyly of finger, Low-set,... |
ORPHA:2631 |
Neu-Laxova Syndrome |
|
Osteomalacia, Cerebral calcification, Micrognathia, Broad foot, Everted lower lip vermilion, Larg... |
ORPHA:2671 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Hip dislocation, Shallow acetabular fossae, Radial bowing, Petechiae, Ulnar bowing, Sensorineural... |
OMIM:605432 |
Diamond-Blackfan Anemia 11 |
|
Finger aplasia, Absent thumb, Unilateral radial aplasia, Atresia of the external auditory canal, ... |
OMIM:614900 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Chromosome 17P13.1 Deletion Syndrome |
|
Long hallux, Feeding difficulties, Arachnodactyly, Short neck, Everted lower lip vermilion, High ... |
OMIM:613776 |
Oculofaciocardiodental Syndrome |
|
Tooth malposition, Hearing impairment, Genu valgum, Sensorineural hearing impairment, Radioulnar ... |
ORPHA:2712 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Abnormality of the costochondral junction, Hypoplastic cervical vertebrae, Stippling of the epiph... |
ORPHA:79345 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Thin ribs, Low-set ears, Joint contracture of the hand, Genu valgum, Micrognathia, Arachnodactyly... |
OMIM:182212 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Low-set ears, Wide nasal bridge, Microretrognathia, Respiratory distress, Cerebral calcification,... |
ORPHA:89844 |
Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Apnea, Death in infancy |
OMIM:610992 |
Diastrophic Dysplasia |
|
Hypoplastic cervical vertebrae, Hearing impairment, Genu valgum, Hip contracture, Talipes equinov... |
OMIM:222600 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad thumb, Hearing impairment, Thoracic hemivertebrae, Overlapping toe, Micrognathia, Feeding d... |
ORPHA:508498 |
Skraban-Deardorff Syndrome |
|
Hyperplasia of the maxilla, Widely spaced teeth, Thick upper lip vermilion, Absent cupid's bow, R... |
OMIM:617616 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, Clinodactyly, Camptodactyly of finger, Protruding ear, Microcephaly, T... |
ORPHA:85279 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Thin ribs, Platyspondyly, Multiple joint dislocation, Short femoral neck, Knee dislocation, Joint... |
OMIM:618395 |
Blount Disease |
|
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowin... |
ORPHA:2768 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Low-set ears, Atlantoaxial dislocation, Carious teeth, Aortic root aneurysm, Dysplasia of the fem... |
ORPHA:536467 |
Syndactyly Type 4 |
|
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... |
ORPHA:93405 |
Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Low-set ears, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Bilateral single transver... |
OMIM:620450 |
Metaphyseal Dysplasia, Spahr Type |
|
Metaphyseal sclerosis, Genu valgum, Bowing of the legs, Osteochondritis dissecans, Metaphyseal ch... |
OMIM:250400 |
Fanconi Anemia |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Arteriovenous malformation, Finger syndactyly, Hea... |
ORPHA:84 |
Femoral-Facial Syndrome |
|
Low-set ears, Toe syndactyly, Micrognathia, Humeroradial synostosis, Encephalocele, Agenesis of c... |
OMIM:134780 |
Congenital Syphilis |
|
Periostitis, Diarrhea, Hearing impairment, Hyperplasia of the maxilla, Large placenta, Malabsorpt... |
ORPHA:499009 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Tachypnea, Nasal ... |
ORPHA:70587 |
Postaxial Oligodactyly, Tetramelic |
|
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... |
OMIM:176240 |
Van Maldergem Syndrome 1 |
|
Clinodactyly, Atresia of the external auditory canal, Cutaneous finger syndactyly, Micrognathia, ... |
OMIM:601390 |
Mosaic Trisomy 9 |
|
Low-set ears, Limitation of joint mobility, Elbow dislocation, Micrognathia, Talipes equinovarus,... |
ORPHA:99776 |
Heart And Brain Malformation Syndrome |
|
High, narrow palate, Cerebellar vermis hypoplasia, Hand clenching, Global brain atrophy, Cleft li... |
OMIM:616920 |
Lujan-Fryns Syndrome |
|
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodac... |
ORPHA:776 |
Langer Mesomelic Dysplasia |
|
Ulnar deviation of finger, Micromelia, Mesomelic/rhizomelic limb shortening, Aplasia/Hypoplasia o... |
ORPHA:2632 |
Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Low-set ears, Overfriendliness, Thin upper lip vermilion, Microcephaly, Short neck, Smooth philtr... |
OMIM:620439 |
Atelosteogenesis, Type Ii |
|
Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia... |
OMIM:256050 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow pelvis bone, Long philtrum, Stenosi... |
OMIM:207410 |
Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Intercostal retractions, Cyanosis |
ORPHA:137935 |
Omodysplasia 1 |
|
Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movement, Microgn... |
OMIM:258315 |
Tetrasomy 15Q26 |
|
Low-set ears, Microretrognathia, Cupped ear, Hypoplastic aortic arch, Kyphoscoliosis, Arachnodact... |
OMIM:614846 |
Pallister-Hall Syndrome |
|
Toe syndactyly, Broad thumb, Radial bowing, Natal tooth, Atresia of the external auditory canal, ... |
ORPHA:672 |
Diabetic Embryopathy |
|
Spinal dysraphism, Hearing impairment, Aplasia/Hypoplasia of the corpus callosum, Low-set, poster... |
ORPHA:1926 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Osteogenesis Imperfecta, Type Ii |
|
Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Broad long bones, Tibial bowing... |
OMIM:166210 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, Median cleft upper lip, High palate, Cleft palate, Syndactyly |
OMIM:300484 |
Meier-Gorlin Syndrome 1 |
|
Thin ribs, Low-set ears, Small hand, Joint contracture of the hand, Hearing impairment, Atresia o... |
OMIM:224690 |
Mucopolysaccharidosis, Type Ix |
|
Bifid uvula, Chondrocalcinosis, Popliteal synovial cyst, Recurrent otitis media, Wrist hypermobil... |
OMIM:601492 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Low-set ears, Abnormality of the dentition, Wide nasal bridge, Broad thumb, Clinodactyly, Promine... |
OMIM:618529 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... |
OMIM:610913 |
Cerebrocostomandibular Syndrome |
|
Posterior rib gap, Hydranencephaly, Conductive hearing impairment, Atresia of the external audito... |
ORPHA:1393 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Venous mal... |
ORPHA:75508 |
Osteogenesis Imperfecta, Type Xix |
|
Dentinogenesis imperfecta, Rhizomelia, Osteopenia, Vertebral wedging, Hearing impairment, Bowing ... |
OMIM:301014 |
Nager Syndrome |
|
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hearing impairment, Non-midline clef... |
ORPHA:245 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Dyspnea, Recurrent re... |
OMIM:610910 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Short palm, Coxa vara |
ORPHA:168555 |
Diaphanospondylodysostosis |
|
Low-set ears, Unossified sacrum, Tracheomalacia, Delayed vertebral ossification, Polymicrogyria, ... |
OMIM:608022 |
Anophthalmia Plus Syndrome |
|
Tessier cleft, Aplasia/Hypoplasia of the earlobes, Deviation of finger, Low-set, posteriorly rota... |
ORPHA:1104 |
Focal Dermal Hypoplasia |
|
Low-set ears, Erythema, Toe syndactyly, Finger syndactyly, Hearing impairment, Open bite, Acute h... |
ORPHA:2092 |
Hallermann-Streiff Syndrome |
|
Thin ribs, Low-set ears, Natal tooth, Micrognathia, Narrow mouth, Telangiectasia, Everted lower l... |
OMIM:234100 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Low-set ears, Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Mic... |
ORPHA:363417 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Wide anterior fontanel, Clinodactyly, Downturned corners of mouth, Anteriorly placed anus, Respir... |
OMIM:217980 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Low-set ears, Broad thumb, Hearing impairment, Hypoplasia of the corpus callosum, Agenesis of cor... |
ORPHA:481152 |
Diastrophic Dysplasia |
|
Hypoplastic cervical vertebrae, Hearing impairment, Elbow dislocation, Cerebral calcification, Mi... |
ORPHA:628 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... |
OMIM:605274 |
Acrocraniofacial Dysostosis |
|
Broad thumb, Genu valgum, Micrognathia, Sensorineural hearing impairment, Abnormality of the mall... |
ORPHA:949 |
Blomstrand Lethal Chondrodysplasia |
|
Low-set ears, Synostosis of joints, Natal tooth, Distal shortening of limbs, Micrognathia, Protru... |
ORPHA:50945 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... |
OMIM:269250 |
Smith-Magenis Syndrome |
|
Abnormal forearm morphology, Abnormality of the outer ear, Velopharyngeal insufficiency, Everted ... |
OMIM:182290 |
Duane-Radial Ray Syndrome |
|
Sensorineural hearing impairment, Aplasia of metacarpal bones, Pes planus, Slit-like opening of t... |
OMIM:607323 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:619466 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Carious teeth, Hearing impairment, Open bite, Genu valgum, Micrognathia, De... |
ORPHA:1452 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Abnormality of the ankle, Microgloss... |
ORPHA:1307 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Delayed cranial... |
ORPHA:2249 |
High Altitude Pulmonary Edema |
|
Cyanosis, Pulmonary edema, Tachypnea, Orthopnea, Dyspnea, Hypoxemia |
ORPHA:330012 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:245650 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Low-set ears, Wide nasal bridge, Abnormal form of the vertebral bodies, Abnormal lip morphology, ... |
ORPHA:2759 |
Deafness, Progressive, With Stapes Fixation |
|
Bilateral conductive hearing impairment, Stapes ankylosis |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Bilateral conductive hearing impairment, Stapes ankylosis |
ORPHA:3235 |
Distal Triplication 15Q |
|
Low-set ears, Abnormal helix morphology, Cupped ear, Retrognathia, Flexion contracture, Micrognat... |
ORPHA:314588 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Flared metaphysis, ... |
OMIM:156510 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Genu valgum, Delayed ... |
OMIM:184250 |
Chronic Pneumonitis Of Infancy |
|
Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia |
ORPHA:91359 |
Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Aplasia/Hypoplasia of the corpus callosum, Death in early adulthood, O... |
ORPHA:192 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Carious teeth, Hearing impairment, Genu valgum, Micrognathia, Hip contracture, Pes planus, Flatte... |
OMIM:618363 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Low-set ears, Aplasia/Hypoplasia of the pubic bone, Hypoplasia of the corpus callosum, Talipes eq... |
OMIM:269150 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Short 5th finger, Postaxial oligodactyly, Malar flattening, Talipes equinovarus, Brachydactyly, A... |
ORPHA:52056 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Cerebral cortical atrophy, Tooth agenesis, Tetralogy of Fallot, Abnormal hip bone morphology, Mic... |
ORPHA:1166 |
8Q22.1 Microdeletion Syndrome |
|
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Wide nasal bridge, Limitat... |
ORPHA:178303 |
Presynaptic Congenital Myasthenic Syndromes |
|
Low-set ears, Nasal regurgitation, Episodic respiratory distress, Sensorineural hearing impairmen... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Low-set ears, Nasal regurgitation, Episodic respiratory distress, Sensorineural hearing impairmen... |
ORPHA:590 |
Martsolf Syndrome 1 |
|
Low-set ears, Tooth malposition, Micrognathia, Talipes equinovarus, Feeding difficulties in infan... |
OMIM:212720 |
Deafness, X-Linked 2 |
|
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... |
OMIM:304400 |
Tarp Syndrome |
|
Finger syndactyly, Clinodactyly, Hearing impairment, Micrognathia, Abnormal antihelix morphology,... |
ORPHA:2886 |
Brachydactyly, Type A1, C |
|
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... |
OMIM:615072 |
Primary Pulmonary Hypoplasia |
|
Abnormal pulmonary artery morphology, Apnea, Cyanosis, Tachypnea, Pneumothorax, Recurrent respira... |
ORPHA:2257 |
Steinfeld Syndrome |
|
Abnormal vertebral morphology, Bifid uvula, Abnormality of the vertebral column, Hearing impairme... |
OMIM:184705 |
Orofaciodigital Syndrome Xix |
|
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Carious teeth, Cleft soft palate, Narro... |
OMIM:620107 |
Mietens Syndrome |
|
Wide nasal bridge, Elbow dislocation, Short nose, Avascular necrosis of the capital femoral epiph... |
ORPHA:2557 |
Spondyloepiphyseal Dysplasia Congenita |
|
Hypoplasia of the odontoid process, Hearing impairment, Limited hip movement, Delayed pubic bone ... |
OMIM:183900 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Acrofacial Dysostosis 1, Nager Type |
|
Low-set ears, Toe syndactyly, Clinodactyly, Velopharyngeal insufficiency, Atresia of the external... |
OMIM:154400 |
Mietens-Weber Syndrome |
|
Forearm undergrowth, Elbow flexion contracture, Pes planus, Dislocated radial head, Absent proxim... |
OMIM:249600 |
Pde4D Haploinsufficiency Syndrome |
|
Hearing impairment, Micrognathia, Broad foot, Pes planus, Broad phalanx, Bilateral coxa valga, Sh... |
ORPHA:439822 |
Asbestos Intoxication |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Oxygen d... |
ORPHA:2302 |
Osteoglophonic Dysplasia |
|
Low-set ears, Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Short neck... |
OMIM:166250 |
Short-Rib Thoracic Dysplasia 12 |
|
Low-set ears, Hypoplastic scapulae, Natal tooth, Broad foot, Neonatal death, Short neck, Short fo... |
OMIM:269860 |
Van Maldergem Syndrome 2 |
|
Clinodactyly, Hearing impairment, Atresia of the external auditory canal, Cutaneous finger syndac... |
OMIM:615546 |
Fryns Syndrome |
|
Micrognathia, Agenesis of corpus callosum, Short neck, Anal atresia, High palate, Non-midline cle... |
ORPHA:2059 |
Generalized Arterial Calcification Of Infancy |
|
Hearing impairment, Medial calcification of large arteries, Osteomalacia, Cerebral calcification,... |
ORPHA:51608 |
Pycnodysostosis |
|
Small hand, Carious teeth, Delayed cranial suture closure, Acromelia, Hypoplastic iliac wing, Mic... |
ORPHA:763 |
Chondrodysplasia, Blomstrand Type |
|
Abnormal vertebral morphology, Micromelia, Flared metaphysis, Stillbirth, Micrognathia, Malar fla... |
OMIM:215045 |
20P12.3 Microdeletion Syndrome |
|
Wide nasal bridge, Hypoplasia of the maxilla, Broad thumb, Long philtrum, Narrow mouth, Malar fla... |
ORPHA:261295 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Ankle flexion contracture, Equinovarus deformity, Respiratory distress, Elbow flexion contracture... |
ORPHA:1143 |
Kniest Dysplasia |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Hearing... |
ORPHA:485 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Abnormal vertebral morphology, Low-set, posteriorly rotated ears, Micrognathia, Thin upper lip ve... |
ORPHA:2015 |
Nail-Patella Syndrome |
|
Patellar aplasia, Sensorineural hearing impairment, Talipes equinovarus, Pes planus, Disproportio... |
OMIM:161200 |
Stickler Syndrome, Type I |
|
Micrognathia, Sensorineural hearing impairment, Arachnodactyly, Beaking of vertebral bodies, Pier... |
OMIM:108300 |
De Barsy Syndrome |
|
Low-set ears, Prominent veins on trunk, Talipes calcaneovalgus, Narrow mouth, Excessive wrinkled ... |
ORPHA:2962 |
Spondyloepiphyseal Dysplasia Tarda |
|
Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Limitation of joint mob... |
ORPHA:93284 |
Meckel Syndrome, Type 9 |
|
Talipes equinovarus, Limb undergrowth |
OMIM:614209 |
Acro-Renal-Ocular Syndrome |
|
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Radial club hand, Sensorine... |
ORPHA:959 |
Stickler Syndrome Type 1 |
|
Platyspondyly, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Long philtrum, Abnormal ... |
ORPHA:90653 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Low-set ears, Protein-losing enteropathy, Diarrhea, Vomiting, Long philtrum, Decreased liver func... |
OMIM:608104 |
Auriculocondylar Syndrome |
|
Hearing impairment, Question mark ear, Micrognathia, Narrow mouth, Abnormal pinna morphology, Ham... |
ORPHA:137888 |
Meckel Syndrome 14 |
|
Low-set ears, Postaxial foot polydactyly, Occipital encephalocele, Microretrognathia, Retrognathi... |
OMIM:619879 |
Smith-Lemli-Opitz Syndrome |
|
Low-set ears, Postaxial foot polydactyly, Hearing impairment, Talipes calcaneovalgus, Recurrent o... |
OMIM:270400 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Limited pronation/supination of forearm, Radial bowing, Madelung deformity |
DECIPHER:58 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Low-set ears, Slender finger, Conductive hearing impairment, Atresia of the external auditory can... |
OMIM:610536 |
Achondroplasia |
|
Hearing impairment, Flat acetabular roof, Cervical spinal canal stenosis, Functional abnormality ... |
ORPHA:15 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal vertebral morphology, Limitation of joint mobility, Sensorineural hearing impairment, Di... |
ORPHA:217093 |
Ulnar Hypoplasia With Impaired Intellectual Development |
|
Talipes equinovarus, Bilateral ulnar hypoplasia, Limited elbow movement, Limitation of knee mobility |
OMIM:276821 |
Tarp Syndrome |
|
Low-set ears, Clinodactyly, Micrognathia, Neonatal death, Talipes equinovarus, Bilateral talipes ... |
OMIM:311900 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Abnormality of the outer ear, Hearing impairment, Atresia of the external auditory canal, Aplasia... |
ORPHA:3186 |
Holt-Oram Syndrome |
|
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Cleft soft palate, Ulnar d... |
OMIM:142900 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Hearing impairment, Radial club hand, Cutaneous finge... |
ORPHA:93322 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Pleural effusion, Dyspnea, Abnormal lung morpho... |
ORPHA:50251 |
Mucopolysaccharidosis Type 2 |
|
Limitation of joint mobility, Sensorineural hearing impairment, Motor stereotypy, Flexion contrac... |
ORPHA:580 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Weill-Marchesani Syndrome 2 |
|
Tooth malposition, Broad phalanges of the hand, High palate, Short metacarpal, Patent ductus arte... |
OMIM:608328 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal vertebral morphology, Limitation of joint mobility, Sensorineural hearing impairment, Di... |
ORPHA:217085 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Low-set ears, Cerebellar vermis hypoplasia, Wide nasal bridge, Long philtrum, Delayed cranial sut... |
OMIM:619383 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent otitis media, Hearing impairment, Polydactyly |
OMIM:615993 |
Orofaciodigital Syndrome Ii |
|
Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Hypop... |
OMIM:252100 |
Branchiogenic-Deafness Syndrome |
|
Short distal phalanx of finger, Branchial fistula, Atresia of the external auditory canal, Branch... |
OMIM:609166 |
Cerebrocostomandibular Syndrome |
|
Low-set ears, Carious teeth, Cleft soft palate, Micrognathia, Short hard palate, High palate, Pat... |
OMIM:117650 |
Schwartz-Jampel Syndrome, Type 1 |
|
Low-set ears, Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contrac... |
OMIM:255800 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Hearing impairment, Genu valgum, Narrow mouth, Micrognathia, Intervertebral space narrowing, Radi... |
OMIM:614078 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:615524 |
Cleidocranial Dysplasia 1 |
|
Hypoplastic scapulae, Hearing impairment, Absent paranasal sinuses, Hypoplastic iliac wing, Micro... |
OMIM:119600 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Low-set ears, Protein-losing enteropathy, Wide nasal bridge, Hepatic failure, Abdominal distentio... |
OMIM:235255 |
Schneckenbecken Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Abnormal form of the vertebral bodies, Malar ... |
ORPHA:3144 |
Acromesomelic Dysplasia 2B |
|
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... |
OMIM:228900 |
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones |
|
Abnormality of carpal bone ossification, Hypoplasia of the maxilla, Osteopenia, Progeroid facial ... |
OMIM:608154 |
Jacobsen Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Toe syndactyly, Finger syndactyly, Long hallux, Agenesis of c... |
ORPHA:2308 |
Blount Disease, Adolescent |
|
Osteochondritis dissecans, Genu varum, Bowing of the legs |
OMIM:259200 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Conductive hearing impairment, Abnormal form of the vertebral bodies, ... |
ORPHA:93262 |
Charge Syndrome |
|
Low-set ears, Micrognathia, Sensorineural hearing impairment, Overriding aorta, Radial head sublu... |
OMIM:214800 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:619003 |
Achondrogenesis, Type Ia |
|
Low-set ears, Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morp... |
OMIM:200600 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri... |
OMIM:300554 |
Mucopolysaccharidosis, Type Vii |
|
Hypoplasia of the odontoid process, Limitation of joint mobility, Hearing impairment, Recurrent o... |
OMIM:253220 |
Split-Hand/Foot Malformation 3 |
|
Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, Split hand, Camptodactyly, High palat... |
OMIM:246560 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Squared... |
ORPHA:93352 |
Loeys-Dietz Syndrome 5 |
|
Aortic root aneurysm, Cleft soft palate, Reduced subcutaneous adipose tissue, Arachnodactyly, Tal... |
OMIM:615582 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Low-set ears, Limitation of joint mobility, Broad long bones, Micrognathia, Narrow mouth, Encepha... |
ORPHA:1865 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Wide nasal bridge, Diffuse white matter abnormalities, Hypoplasia of the maxilla, Flexion contrac... |
OMIM:218000 |
Fibrochondrogenesis 2 |
|
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Micrognathia, Malar flattening, Short ribs,... |
OMIM:614524 |
Dysostosis Multiplex, Ain-Naz Type |
|
Elongated femoral neck, Hypoplastic iliac wing, Wide humerus, Glenoid fossa hypoplasia, Hemiverte... |
OMIM:619345 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Low-set ears, Small hand, Hearing impairment, Feeding difficulties, Hypoplasia of the corpus call... |
OMIM:300968 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Brachydactyly, Mesomelia |
ORPHA:1277 |
Saethre-Chotzen Syndrome |
|
Low-set ears, Broad thumb, Finger syndactyly, Hearing impairment, Prominent crus of helix, Open b... |
ORPHA:794 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Craniometadiaphyseal Dysplasia |
|
Low-set ears, Carious teeth, Natal tooth, Absent paranasal sinuses, Broad long bones, Genu valgum... |
OMIM:269300 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Low-set ears, Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal... |
OMIM:170390 |
Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Short distal phalanx of the thumb, Plantar pits, Vertebral wedging, Calcification of... |
OMIM:109400 |
Qazi-Markouizos Syndrome |
|
High, narrow palate, Open mouth, Chronic constipation, Broad philtrum, Abdominal distention, Hypo... |
ORPHA:3010 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Hypoxemia, Dyspnea, Acute infectious pneumonia |
ORPHA:140896 |
Ear-Patella-Short Stature Syndrome |
|
Low-set ears, Abnormality of the outer ear, Hearing impairment, Atresia of the external auditory ... |
ORPHA:2554 |
Aarskog-Scott Syndrome |
|
Cervical spine hypermobility, Hypoplasia of the odontoid process, Clinodactyly, Broad foot, Short... |
OMIM:305400 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Secondary microcephaly, Hypoplasia of the corpus callosum, Talipes, Short neck, P... |
ORPHA:508488 |
Otopalatodigital Syndrome, Type I |
|
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D... |
OMIM:311300 |
Desmosterolosis |
|
Low-set ears, Abnormal earlobe morphology, Micrognathia, Narrow mouth, Agenesis of corpus callosu... |
ORPHA:35107 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis, Overlapping toe, Broad foot, Pes planus, Brachydactyly, Tarsal synostosis |
OMIM:617898 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Micrognathia, So... |
OMIM:602418 |
20Q13.33 Microdeletion Syndrome |
|
Hematochezia, Dilation of Virchow-Robin spaces, Prominent crus of helix, Low-set, posteriorly rot... |
ORPHA:261311 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Genu va... |
ORPHA:2972 |
Trisomy 18 |
|
Aplasia/Hypoplasia of the corpus callosum, Narrow mouth, Bilateral single transverse palmar creas... |
ORPHA:3380 |
Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Scoliosis, Tibial torsion |
OMIM:188800 |
Cleft Velum |
|
Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insufficiency, Oral-phar... |
ORPHA:99772 |
22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Hearing impairment, Tetralogy of Fallot, Anterior creases of earlobe, Mi... |
ORPHA:1727 |
Familial Nasal Acilia |
|
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Dyspnea, Bronchi... |
ORPHA:922 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Narrow vertebral interpedicular distance, Short neck, Abdominal ... |
OMIM:602557 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Hand clenching, Overlapping fingers, Micrognathia, Hypoplasia of the corpus callosum, Talipes equ... |
OMIM:618291 |
Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Hypoplasia of the maxilla, Mandibular prognathia, Tooth agenesis,... |
ORPHA:1248 |
Shprintzen-Goldberg Syndrome |
|
Low-set ears, Elbow dislocation, Genu valgum, Micrognathia, Bowing of the long bones, Arachnodact... |
ORPHA:2462 |
Bronchiolitis Obliterans |
|
Pneumonia, Respiratory tract infection, Dyspnea, Bronchiolitis obliterans, Hypoxemia, Bronchiectasis |
ORPHA:1303 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Low-set ears, Broad thumb, Micrognathia, Open mouth, Agenesis of corpus callosum, Arachnodactyly,... |
OMIM:309520 |
Congenital Myopathy 22B, Severe Fetal |
|
Thin ribs, Low-set ears, Micrognathia, Hip contracture, Talipes, Short neck, High palate, Tube fe... |
OMIM:620369 |
Hurler Syndrome |
|
Hypoplasia of the odontoid process, Hearing impairment, Recurrent otitis media, Short neck, Diaph... |
OMIM:607014 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Flexion contracture, Wrist hypermobility, Feeding difficulties, Hypoplasia ... |
ORPHA:544503 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Low-set ears, Overlapping toe, Genu valgum, Hypoplasia of the corpus callosum, Carpal bone hypopl... |
ORPHA:457395 |
Mucolipidosis Ii Alpha/Beta |
|
Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o... |
OMIM:252500 |
22Q11.2 Deletion Syndrome |
|
Low-set ears, Carious teeth, Hearing impairment, Micrognathia, Narrow mouth, Arachnodactyly, Tali... |
ORPHA:567 |
Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... |
ORPHA:239 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Congenital contracture, Respiratory distress, Secondary microcephaly, Feeding difficulties, Micro... |
OMIM:615042 |
Robin Sequence-Oligodactyly Syndrome |
|
Finger aplasia, Abnormality of the dentition, Abnormal form of the vertebral bodies, Micrognathia... |
ORPHA:3104 |
Rothmund-Thomson Syndrome |
|
Carious teeth, Diarrhea, Aplasia/Hypoplasia of the patella, Osteopenia, Aplasia/Hypoplasia of the... |
ORPHA:2909 |
Congenital Myopathy 10A, Severe Variant |
|
Gastroesophageal reflux, Camptodactyly of finger, Respiratory distress, Talipes equinovarus, Dysp... |
OMIM:614399 |
Arterial Tortuosity Syndrome |
|
Aortic root aneurysm, Esophagitis, Arachnodactyly, Hip dislocation, Macrotia, Short nose, Gastroe... |
ORPHA:3342 |
Viss Syndrome |
|
Low-set ears, Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Exostosis ... |
OMIM:619472 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Respiratory distress, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Genera... |
ORPHA:1423 |
Vacterl With Hydrocephalus |
|
Abnormality of the outer ear, Absence of the sacrum, Microtia, third degree, Abnormal form of the... |
ORPHA:3412 |
Alfadhel Syndrome |
|
Low-set ears, Retrognathia, Joint hypermobility, Microcephaly, Talipes equinovarus, Smooth philtr... |
OMIM:620655 |
Boomerang Dysplasia |
|
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... |
ORPHA:1263 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Macroglossia, Abnormal femoral torsion, Tibial torsion, Long foot, Long hallux, Varicose veins, T... |
ORPHA:500095 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cerebellar vermis hypoplasia, Ankle flexion contracture, Nasogastric tube feeding, Micrognathia, ... |
ORPHA:284417 |
Dubowitz Syndrome |
|
Small hand, Broad thumb, Toe syndactyly, Hearing impairment, Aplasia/Hypoplasia of the corpus cal... |
ORPHA:235 |
Congenital Disorder Of Glycosylation, Type Ie |
|
High, narrow palate, Ankle flexion contracture, Small hand, Upper limb undergrowth, Respiratory d... |
OMIM:608799 |
Neu-Laxova Syndrome 1 |
|
Low-set ears, Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Mic... |
OMIM:256520 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Low-set ears, Small hand, Premature coronary artery atherosclerosis, Retrognathia, Long philtrum,... |
OMIM:300845 |
Orofaciodigital Syndrome Ix |
|
Abnormality of the dentition, Toe syndactyly, Short tibia, Median cleft upper lip, Microcephaly, ... |
OMIM:258865 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Short neck, Broad phalanx, An... |
OMIM:271665 |
Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... |
OMIM:166740 |
Roberts-Sc Phocomelia Syndrome |
|
Low-set ears, Clinodactyly, Hyperplasia of the maxilla, Micrognathia, Short neck, Abnormal metaca... |
OMIM:268300 |
Bartsocas-Papas Syndrome 1 |
|
Low-set ears, Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Sh... |
OMIM:263650 |
Achondrogenesis, Type Ib |
|
Hypoplastic ilia, Abdominal distention, Micromelia, Umbilical hernia, Absent or minimally ossifie... |
OMIM:600972 |
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Low-set ears, Clinodactyly of the 2nd finger, Velopharyngeal insufficiency, Micrognathia, Pes pla... |
OMIM:620663 |
Meier-Gorlin Syndrome 5 |
|
Low-set ears, Hypoplasia of the maxilla, Gastroesophageal reflux, Clinodactyly, Slender long bone... |
OMIM:613805 |
Gorham-Stout Disease |
|
Osteopenia, Abnormal facial skeleton morphology, Hearing impairment, Abnormality of the temporoma... |
ORPHA:73 |
Distal Xq28 Microduplication Syndrome |
|
Hypoplasia of the maxilla, Dental crowding, Clinodactyly, Thick lower lip vermilion, Absent antih... |
ORPHA:293939 |
Distal Deletion 15Q |
|
Low-set ears, Small hand, Hearing impairment, Genu valgum, Micrognathia, Talipes equinovarus, Pat... |
ORPHA:1596 |
Waardenburg Syndrome Type 1 |
|
Wide nasal bridge, Mandibular prognathia, Hearing impairment, Cleft upper lip, Premature graying ... |
ORPHA:894 |
Genitopalatocardiac Syndrome |
|
Low-set ears, Cleft upper lip, Micrognathia, Right aortic arch, Transposition of the great arteri... |
OMIM:231060 |
Pfeiffer Syndrome Type 2 |
|
Low-set ears, Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Atresia of the external... |
ORPHA:93259 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Low-set ears, Narrow mouth, Chronic constipation, Patent ductus arteriosus, Gastroesophageal refl... |
OMIM:619480 |
Ulbright-Hodes Syndrome |
|
Thin ribs, Low-set ears, Fibular aplasia, Micrognathia, Narrow mouth, Humeroradial synostosis, Ta... |
ORPHA:3404 |
Acromelic Frontonasal Dysostosis |
|
Low-set ears, Short tibia, Tubulonodular pericallosal lipoma, Hypoplasia of the corpus callosum, ... |
OMIM:603671 |
Keipert Syndrome |
|
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Hypoplasia of the ma... |
ORPHA:2662 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Neonatal death, Bowing of the long bones, Death in adolescence, Dysphagia, ... |
OMIM:619751 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Sheldon-Hall Syndrome |
|
Wide nasal bridge, Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Abnormal hip bone... |
ORPHA:1147 |
Coffin-Siris Syndrome 11 |
|
Bifid uvula, Small hand, Downturned corners of mouth, Cleft soft palate, Agenesis of corpus callo... |
OMIM:618779 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Opsismodysplasia |
|
Low-set ears, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Flat acetabul... |
OMIM:258480 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Wide nasal bridge, Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Stippled calci... |
OMIM:222765 |
Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Cyanos... |
ORPHA:199241 |
Upper Limb Mesomelic Dysplasia |
|
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna |
ORPHA:2497 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Micrognathia, Talipes equinovarus, Large hands, High palate, Restlessness, Short foot, Macrotia, ... |
OMIM:300534 |
Dent Disease 1 |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri... |
OMIM:300009 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Hypoxemia... |
ORPHA:79126 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Low-set ears, Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Inte... |
OMIM:300048 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Low-set ears, Aortic root aneurysm, Generalized arterial tortuosity, Micrognathia, Death in child... |
OMIM:614437 |
Spondyloepiphyseal Dysplasia Congenita |
|
Hearing impairment, Dysplasia of the femoral head, Genu valgum, Micrognathia, Limited elbow movem... |
ORPHA:94068 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Low-set ears, Small hand, Shallow acetabular fossae, Micrognathia, Narrow mouth, Talipes equinova... |
OMIM:611209 |
Pitt-Hopkins Syndrome |
|
Tooth malposition, Small hand, Abnormal helix morphology, Aplasia/Hypoplasia of the corpus callos... |
ORPHA:2896 |
Iniencephaly |
|
Low-set ears, Narrow mouth, Encephalocele, Talipes equinovarus, Anal atresia, Holoprosencephaly, ... |
ORPHA:63259 |
Acalvaria |
|
Talipes, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bifida, Postaxial hand polyda... |
ORPHA:945 |
Neuralgic Amyotrophy |
|
Bifid uvula, Narrow mouth, Syndactyly, Scapular winging, Acrocyanosis, Cleft palate, Upper limb a... |
ORPHA:2901 |
Cohen Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Finger syndactyly, Genu valgum, Open mouth, Micrognathia, Sen... |
ORPHA:193 |
Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Shor... |
OMIM:619217 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
Orofaciodigital Syndrome Type 4 |
|
Aplasia/Hypoplasia of the tibia, Low-set ears, Abnormality of the outer ear, Finger syndactyly, A... |
ORPHA:2753 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... |
ORPHA:2141 |
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome |
|
Lower limb undergrowth, Microcephaly, Orofacial cleft, Craniosynostosis, Forearm undergrowth |
OMIM:218650 |
Nevus Comedonicus Syndrome |
|
Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Abnormal ... |
ORPHA:64754 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Hearing impairment, Genu valgum, Sensorineural hearing impairment, Dys... |
ORPHA:581 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Wide nasal bridge, Hypoplasia of the maxilla, Periventricular leukomalacia, Protruding ear, Micro... |
OMIM:618302 |
7Q31 Microdeletion Syndrome |
|
Low-set ears, Abnormal temper tantrums, Hypoplasia of the maxilla, Hypoplasia of the olfactory bu... |
ORPHA:251061 |
Acropectorovertebral Dysplasia |
|
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... |
ORPHA:957 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Prominent antihelix, Long philtrum, Thick lower lip vermilion, Joint contracture of the 5th finge... |
OMIM:614407 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Aplasia/hypoplasia involving bones of the extremities, Abnormal vertebral morphology, Platyspondy... |
ORPHA:93346 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hearing impairment, Recurrent otitis media, Open mouth, Hypoplasia of the corpus callosum, Agenes... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hearing impairment, Recurrent otitis media, Open mouth, Hypoplasia of the corpus callosum, Agenes... |
ORPHA:363958 |
Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Con... |
ORPHA:199306 |
Dyschondrosteosis-Nephritis Syndrome |
|
Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Ulnar bowing, Microdontia, Madelung ... |
ORPHA:1765 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Wide nasal bridge, Respiratory distress, Feeding difficulties, Micrognathia, Microcephaly, Thin v... |
ORPHA:261304 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Fragmentation of the metacarpal epiphyses, Abnormality of the epiphyses of the feet, Genu valgum,... |
ORPHA:166002 |
Bent Bone Dysplasia Syndrome 2 |
|
Thin ribs, Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Osteopenia, Shor... |
OMIM:620076 |
Cleidocranial Dysplasia 2 |
|
Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Hypoplasia of the maxilla, Hearin... |
OMIM:620099 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... |
ORPHA:174 |
Larsen-Like Syndrome |
|
Low-set ears, Dental malocclusion, Conductive hearing impairment, Joint dislocation, Recurrent ot... |
OMIM:608545 |
Distal Deletion 10Q |
|
Low-set ears, Abnormality of the outer ear, Inferior cerebellar vermis hypoplasia, Clinodactyly, ... |
ORPHA:96148 |
Multiple Osteochondromas |
|
Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology,... |
ORPHA:321 |
Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Atresia of the external auditory canal, ... |
OMIM:146510 |
Fliedner-Zweier Syndrome |
|
Self-injurious behavior, Tethered cord, Long philtrum, Hypoplastic aortic arch, Hypoplasia of the... |
OMIM:620511 |
Cohen Syndrome |
|
Genu valgum, Open mouth, Micrognathia, Narrow palm, Feeding difficulties in infancy, Pes planus, ... |
OMIM:216550 |
Mesomelia-Synostoses Syndrome |
|
Synostosis of joints, Synostosis of carpal bones, Hearing impairment, Aplasia/Hypoplasia of the u... |
ORPHA:2496 |
Sialuria |
|
Low-set ears, Wide nasal bridge, Long philtrum, Long hallux, 2-3 toe syndactyly, Thin upper lip v... |
OMIM:269921 |
Temple Syndrome |
|
Bifid uvula, Small hand, Clinodactyly, Relative macrocephaly, Recurrent otitis media, Feeding dif... |
OMIM:616222 |
Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, Rhizomelia, Wide anterior fontanel, Abnormal epiphysis morphology... |
ORPHA:3098 |
Cri-Du-Chat Syndrome |
|
Low-set ears, Hearing impairment, Premature graying of hair, Overfriendliness, Short neck, Pes pl... |
OMIM:123450 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Pulmonary hypoplasia |
OMIM:616733 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Low-set ears, Large fleshy ears, Decreased fibular diameter, Micrognathia, Decreased skull ossifi... |
OMIM:616897 |
Isotretinoin-Like Syndrome |
|
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Gastroesophageal reflux, Atr... |
ORPHA:2306 |
Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of finger, Hypoplasia of the maxilla, Camptodactyly of finger, Abnormality of the... |
ORPHA:1529 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Femoral bowing, Fibular bowing, Tibial bowing, Hypoplasia of the corpus callosum, Microcephaly, M... |
ORPHA:85165 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3032 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Low-set ears, Popliteal pterygium, Patellar hypoplasia, Preaxial foot polydactyly, Median cleft p... |
OMIM:119800 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Hearing impairment, Malnutrition, Malabsorption, Gastrointestinal ... |
OMIM:613662 |
Xq21 Microdeletion Syndrome |
|
Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis, Renal artery ... |
ORPHA:1435 |
Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... |
OMIM:609441 |
Osteogenesis Imperfecta, Type Vi |
|
Dentinogenesis imperfecta, Hearing impairment, Bowing of the arm, Increased susceptibility to fra... |
OMIM:613982 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Pleural effusion, Cyanosis |
ORPHA:2414 |
Cornelia De Lange Syndrome 1 |
|
Low-set ears, Cutis marmorata, Micrognathia, Sensorineural hearing impairment, Short neck, High p... |
OMIM:122470 |
Arthrogryposis, Distal, Type 3 |
|
Overlapping toe, Cutaneous finger syndactyly, Micrognathia, Talipes equinovarus, Short neck, Thor... |
OMIM:114300 |
Atelosteogenesis Type Iii |
|
Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Fibular aplasia, Micrognathia, Ta... |
ORPHA:56305 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Low-set ears, Recurrent otitis media, Overlapping toe, Micrognathia, Hypoplasia of the corpus cal... |
OMIM:213980 |
Familial Visceral Myopathy |
|
Camptodactyly of finger, Low-set, posteriorly rotated ears, Umbilical hernia, Joint stiffness, Mi... |
ORPHA:2604 |
Apert Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Agenesis of corpus callosum, Sensorineural hearin... |
ORPHA:87 |
Schilbach-Rott Syndrome |
|
2-3 toe cutaneous syndactyly, Bifid uvula, Clinodactyly, Micrognathia, Narrow mouth, Submucous cl... |
OMIM:164220 |
Mesomelic Dysplasia, Savarirayan Type |
|
High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa... |
ORPHA:85170 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Pulmonary hypoplasia |
OMIM:616531 |
Orofaciodigital Syndrome X |
|
Finger aplasia, Retrognathia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal b... |
OMIM:165590 |
Dysostosis, Stanescu Type |
|
Carious teeth, Cerebral calcification, Bowing of the long bones, Short neck, Increased bone miner... |
ORPHA:1798 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe... |
OMIM:208500 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the radius, Micromelia, Short 5th metacarpal, Hemiatrophy, Abnormal morphol... |
ORPHA:1350 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Hyperplasia of the maxilla, Recurrent otitis media, Micrognathia, Hy... |
ORPHA:513456 |
Holoprosencephaly |
|
Aplasia/Hypoplasia of the corpus callosum, Abnormal antihelix morphology, Encephalocele, Talipes,... |
ORPHA:2162 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Micromelia |
OMIM:273680 |
Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Flared metaphysis, Femoral bow... |
OMIM:187600 |
Metatropic Dysplasia |
|
Scoliosis, Coarse metaphyseal trabecularization, Micromelia, Hypoplastic cervical vertebrae, Camp... |
ORPHA:2635 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Respiratory distress, Tachypnea, Acute infectious pneumonia, Hypoxemia |
ORPHA:264675 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Prominent antihelix, Retrognathia, Cleft soft palate, Periventricular leukomalacia, Abnormal caud... |
ORPHA:293725 |
Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration |
ORPHA:77260 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:253310 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Cyanosis, Pneumothorax, Dyspnea, Hypoxemia |
ORPHA:1302 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Schimke Immuno-Osseous Dysplasia |
|
Platyspondyly, Shallow acetabular fossae, Abdominal distention, Atherosclerosis, Lumbar hyperlord... |
ORPHA:1830 |
Interstitial Lung Disease 2 |
|
Usual interstitial pneumonia, Alveolar cell carcinoma, Exertional dyspnea, Dyspnea, Pulmonary fib... |
OMIM:178500 |
Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Limitation of joint mobility, Feeding difficulties, Cleft soft pala... |
ORPHA:99742 |
Slc35A1-Cdg |
|
Pneumonia, Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage, Hypoxemia |
ORPHA:238459 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Low-set ears, Respiratory distress, Apnea, Tented upper lip vermilion, Micrognathia, Hypoventilat... |
ORPHA:314655 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Joint contracture of the hand, Small hypothenar eminence, Long philtrum, Talipes equinovarus, Spi... |
OMIM:211960 |
Microcephaly-Capillary Malformation Syndrome |
|
Low-set ears, Short distal phalanx of finger, Hypoplasia of the maxilla, Clinodactyly, Cerebral a... |
OMIM:614261 |
Anauxetic Dysplasia 3 |
|
Broad middle phalanx of finger, Platyspondyly, Metaphyseal cupping, Gastroesophageal reflux, Retr... |
OMIM:618853 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Low-set ears, Prominent crus of helix, Genu valgum, Hip contracture, Hypoplasia of the corpus cal... |
OMIM:619194 |
Juberg-Hayward Syndrome |
|
Abnormal vertebral morphology, Toe syndactyly, Short thumb, Anteriorly placed anus, Abnormality o... |
ORPHA:2319 |
Roberts Syndrome |
|
Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bilateral single t... |
ORPHA:3103 |
Ulnar Hypoplasia-Split Foot Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot |
ORPHA:1122 |
Monosomy 18Q |
|
Bilateral conductive hearing impairment, Open mouth, Sensorineural hearing impairment, Arachnodac... |
ORPHA:1600 |
Oncogenic Osteomalacia |
|
Abnormal vertebral morphology, Abnormal foot morphology, Pathologic fracture, Abnormality of the ... |
ORPHA:352540 |
Otopalatodigital Syndrome Type 1 |
|
Wide nasal bridge, Short distal phalanx of finger, Synostosis of carpal bones, Short thumb, Sanda... |
ORPHA:90650 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Low-set ears, Bifid uvula, Conductive hearing impairment, Prominent fingertip pads, Thick lower l... |
OMIM:617412 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Open ... |
OMIM:619950 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
High, narrow palate, Low-set ears, Small hand, Cupped ear, Prominent fingertip pads, Sandal gap, ... |
OMIM:612863 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Premature osteoarthritis, Micrognathia, Sensorineural hearing impairment, B... |
OMIM:215150 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Short distal phalanx of finger, Joint dislocation, Short toe, Abnormal mandi... |
ORPHA:3201 |
1Q21.1 Microdeletion Syndrome |
|
Broad thumb, Toe syndactyly, Ankyloglossia, Agenesis of corpus callosum, Sensorineural hearing im... |
ORPHA:250989 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Long philtrum, Abnormal foot morphology, Short tubular bones of the hand, Hypo... |
OMIM:200610 |
Lowry-Maclean Syndrome |
|
Low-set ears, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Delayed eruption of primar... |
ORPHA:2409 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Broad thumb, Carious teeth, Natal tooth, Secondary microcephaly, Sensorineural hearing impairment... |
ORPHA:353281 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Subcutaneous calcification, Radial bowing |
OMIM:617993 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Low-set ears, Carious teeth, Micrognathia, Narrow mouth, Talipes equinovarus, Short neck, Pes pla... |
OMIM:272430 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Dysspondyloenchondromatosis |
|
Platyspondyly, Anisospondyly, Lower limb asymmetry, Joint dislocation, Multiple enchondromatosis,... |
ORPHA:85198 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Delayed epiphyseal ossification, Abnormal epiphysis morphology, Umbilical hernia, Respiratory dis... |
ORPHA:226313 |
Laryngotracheoesophageal Cleft |
|
Dyspnea, Recurrent respiratory infections, Cyanosis |
ORPHA:2004 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Bilatera... |
OMIM:601356 |
Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob... |
OMIM:114000 |
Frontorhiny |
|
Cranium bifidum occultum, Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of finger... |
ORPHA:391474 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Widely-spaced incisors, Hypoplasia of the corpus callosum, Thin upper ... |
OMIM:618737 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Micrognathia, Narrow mouth, Sensorineural hearing impairment, Talipes, Talipes equinovarus, Short... |
OMIM:300990 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Shallow acetabular fossae, Limitation of joint mobility, Hearing impairment, Narrow mouth, Bilate... |
ORPHA:261279 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
ORPHA:3033 |
Cerebrofacioarticular Syndrome |
|
Caudal appendage, Micrognathia, Narrow mouth, Irregular dentition, Hypoplasia of the corpus callo... |
ORPHA:314679 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Limitation of joint mobility, Finger syndactyly, Delayed cranial suture closure, Agenesis of corp... |
ORPHA:2658 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Bilateral conductive hearing impairment, Agenesis of pe... |
OMIM:216300 |
Cardiospondylocarpofacial Syndrome |
|
Low-set ears, Carpal synostosis, Recurrent otitis media, Enlarged vestibular aqueduct, Hypoplasti... |
OMIM:157800 |
Arboleda-Tham Syndrome |
|
Low-set ears, Enlarged proximal interphalangeal joints, Recurrent otitis media, Underdeveloped tr... |
OMIM:616268 |
Hoxha-Aliu Syndrome |
|
Abnormal vertebral morphology, Low-set ears, Overlapping toe, Broad foot, Absent fifth metatarsal... |
OMIM:620662 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Low-set ears, Overlapping toe, Carpal bone hypoplasia, Short neck, Thoracolumbar scoliosis, Short... |
OMIM:616723 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Fifth finger distal phalanx clinodactyly, Low-set ears, Small hand, Broad long bones, Micrognathi... |
OMIM:257850 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... |
OMIM:259600 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... |
OMIM:246570 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Overlapping toe, Overlapping fingers, O... |
OMIM:618494 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal corpus callosum morphology, Congenital hip dislocation, Low-set ears, Abnormal temper ta... |
ORPHA:457279 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Ectopic anus, Spina bifida, Anencephaly, Non-midline cleft of t... |
ORPHA:2476 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Sh... |
OMIM:251450 |
Hydrolethalus |
|
Low-set ears, Bifid uvula, Gingival cleft, Micromelia, Unilateral cleft lip, Retrognathia, Low-se... |
ORPHA:2189 |
Cree Impaired Intellectual Development Syndrome |
|
Low-set ears, Cutaneous finger syndactyly, Cleft soft palate, Micrognathia, Aplasia/Hypoplasia of... |
OMIM:606851 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Abnormal anterior horn cell morphology, Interphalangeal joint contract... |
ORPHA:1145 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Short 5th finger, Tessier cleft, Abnormal vertebral morphology, Conductive hearing impairment, Ab... |
OMIM:239800 |
Acrofacial Dysostosis, Catania Type |
|
Tessier cleft, Abnormality of the dentition, Small hand, Carious teeth, Microretrognathia, Finger... |
ORPHA:1786 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Low-set ears, Osteomalacia, Micrognathia, Bilateral single transverse palmar creases, Short neck,... |
ORPHA:2636 |
Acute Lung Injury |
|
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Tachypnea, Dyspnea, Abnormal pulmon... |
ORPHA:178320 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Low-set ears, Hypoplastic ilia, Micromelia, Long philtrum, Respiratory distress, Horizontal ribs,... |
OMIM:617895 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:617468 |
Adnp Syndrome |
|
Low-set ears, Broad thumb, Oral-pharyngeal dysphagia, Hypoplasia of the corpus callosum, Focal wh... |
ORPHA:404448 |
Hyperparathyroidism, Transient Neonatal |
|
Thin ribs, Low-set ears, Fractured rib, Patent ductus arteriosus, Osteopenia, Gastroesophageal re... |
OMIM:618188 |
Microphthalmia, Syndromic 2 |
|
Hand clenching, Hypoplasia of the corpus callosum, Contracture of the proximal interphalangeal jo... |
OMIM:300166 |
Prader-Willi Syndrome Due To Translocation |
|
Small hand, Carious teeth, Clinodactyly, Overlapping toe, Micrognathia, Short neck, Pes planus, F... |
ORPHA:177907 |
Charge Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Abnormal tibia morphology, Narrow mouth, ... |
ORPHA:138 |
Arms, Malformation Of |
|
Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna |
OMIM:107900 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Short finger, Short 5th metacarpal, Pseudocoarctation of the aorta, Brachydactyly, Cli... |
OMIM:604381 |
Mandibulofacial Dysostosis With Alopecia |
|
Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Dental crowding, Cupped ear, Conducti... |
OMIM:616367 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Abnormal hand morphology, Short 5th metacarpal, Pseudocoarctation of the aorta, Short digit, Clin... |
ORPHA:228190 |
Nievergelt Syndrome |
|
Genu valgum, Talipes equinovarus, Radioulnar synostosis, Metatarsus adductus, Tarsal synostosis, ... |
OMIM:163400 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Abnormal thumb morphology, Abn... |
ORPHA:2639 |
Agnathia-Otocephaly Complex |
|
Low-set ears, Microglossia, Conductive hearing impairment, Tracheomalacia, Respiratory distress, ... |
OMIM:202650 |
Orofaciodigital Syndrome Type 5 |
|
Postaxial foot polydactyly, Postaxial polysyndactyly of foot, Cleft soft palate, Agenesis of corp... |
ORPHA:2919 |
Occipital Horn Syndrome |
|
Synostosis of joints, Delayed cranial suture closure, Osteomalacia, Cerebral calcification, Genu ... |
ORPHA:198 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Low-set ears, Long philtrum, Sacral dimple, Feeding difficulties, Narrow mouth, Single transverse... |
OMIM:615502 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Low-set ears, Protein-losing enteropathy, Hepatic failure, Abdominal distention, Pancreatic lymph... |
ORPHA:1655 |
Diaphanospondylodysostosis |
|
Respiratory distress, Absent or minimally ossified vertebral bodies, Myelomeningocele, Missing ri... |
ORPHA:66637 |
Distal 17P13.1 Microdeletion Syndrome |
|
Hypoplasia of the zygomatic bone, Retrognathia, Abnormal hand morphology, Unilateral polymicrogyr... |
ORPHA:319171 |
Pyknoachondrogenesis |
|
Low-set ears, Craniofacial hyperostosis, Abnormal intramembranous ossification, Unossified sacrum... |
ORPHA:3003 |
Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Small hand, Micrognathia, Hypoplastic frontal sinuses, Cerebellar hypopl... |
OMIM:300712 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hearing impairment, Long hallux, Narrow vertebral interpedicular distance, Calvarial hyperostosis... |
OMIM:101800 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Bifid uvula, Respiratory distress, Stenosis of the external auditory canal, Feeding difficulties,... |
OMIM:606164 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Autosomal Recessive Robinow Syndrome |
|
Broad thumb, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Hearing impairment, O... |
ORPHA:1507 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Hypoplasia of the maxilla, Ankle swelling, Carpal osteolysis, Wrist swelling, Metacar... |
OMIM:166300 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Wide nasal bridge, Anisospondyly, Occipital encephalocele, Micromelia, Pterygium, Micrognathia, N... |
OMIM:224410 |
Pfeiffer Syndrome Type 3 |
|
Low-set ears, Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Hearing impairment, Lim... |
ORPHA:93260 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Abnormal joint morphology, Lumbar scoliosis, Cerebral white matter atrophy, Short neck, Metaphyse... |
ORPHA:99646 |
8P23.1 Microdeletion Syndrome |
|
Low-set ears, Broad thumb, Micrognathia, Short neck, Pes planus, High palate, Biparietal narrowin... |
ORPHA:251071 |
Hypoglossia With Situs Inversus |
|
Low-set ears, Microglossia, Malnutrition, Respiratory distress, Micrognathia, Narrow mouth, Hypod... |
OMIM:612776 |
Double Outlet Right Ventricle |
|
Intestinal malrotation, Tetralogy of Fallot, Feeding difficulties, Narrow mouth, Cyanosis, Submuc... |
ORPHA:3426 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing |
OMIM:241600 |
Nablus Mask-Like Facial Syndrome |
|
Low-set ears, Joint contracture of the hand, Clinodactyly, Secondary microcephaly, Narrow mouth, ... |
OMIM:608156 |
Osteogenesis Imperfecta, Type Xiii |
|
Hearing impairment, Arachnodactyly, Dislocated radial head, Wide distal femoral metaphysis, Femor... |
OMIM:614856 |
Cardiofaciocutaneous Syndrome 1 |
|
Low-set ears, Hearing impairment, Aplasia/Hypoplasia of the corpus callosum, Open bite, Micrognat... |
OMIM:115150 |
Meier-Gorlin Syndrome 3 |
|
Low-set ears, Micrognathia, Narrow mouth, Patellar aplasia, Aplasia/Hypoplasia of the patella, Ta... |
OMIM:613803 |
Trisomy 8P |
|
Clinodactyly of the 2nd finger, Abnormal middle ear morphology, Overlapping toe, Agenesis of corp... |
ORPHA:264450 |
Lateral Meningocele Syndrome |
|
Low-set ears, Micrognathia, Short neck, High palate, Patent ductus arteriosus, Biconcave vertebra... |
OMIM:130720 |
Spondylocarpotarsal Synostosis Syndrome |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S... |
OMIM:272460 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Equinovarus deformity, Recurrent otitis media, Broad foot, Metaphyseal dysplasia, Broad phalanx, ... |
ORPHA:2502 |
Recurrent Respiratory Papillomatosis |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Respiratory distr... |
ORPHA:60032 |
Schisis Association |
|
Unilateral cleft lip, Micromelia, Encephalocele, Microcephaly, Tracheoesophageal fistula, Spina b... |
ORPHA:63862 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Abnormality of the vertebral colu... |
OMIM:109120 |
Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Low-set ears, Hypoplasia of the maxilla, Slender long bone, Thick lower lip verm... |
OMIM:613804 |
Legg-Calvé-Perthes Disease |
|
Abnormality of the dentition, Joint dislocation, Cartilage destruction |
ORPHA:2380 |
Fg Syndrome Type 1 |
|
Finger syndactyly, Clinodactyly of the 2nd finger, Aplasia/Hypoplasia of the corpus callosum, Fac... |
ORPHA:93932 |
Mesomelic Dysplasia, Kantaputra Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Camptodactyly of finger, Dumbbell-shaped h... |
ORPHA:1836 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Low-set ears, Hand clenching, Narrow palate, Gastroesophageal reflux, Arthrogryposis multiplex co... |
OMIM:618186 |
Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hypoplasia of the maxilla, Hallux valgus, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiph... |
ORPHA:397973 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid uvula, Narrow palate, Natal tooth, Atresia of the external auditory canal, Anteriorly place... |
OMIM:123790 |
Antley-Bixler Syndrome |
|
Hypoplasia of the zygomatic bone, Long philtrum, Camptodactyly of finger, Low-set, posteriorly ro... |
ORPHA:83 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Wide anterior fontanel, Umbilical hernia, Micrognathia, Protuberant abdomen, Macrocephaly, Kyphos... |
OMIM:618272 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... |
OMIM:254210 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Low-set ears, Erythema, Arthrogryposis multiplex congenita, Internally rotated shoulders, Recurre... |
OMIM:619503 |
Stickler Syndrome |
|
Hearing impairment, Open bite, Genu valgum, Micrognathia, Sensorineural hearing impairment, Arach... |
ORPHA:828 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Leukoencephalopathy, Diarrhea, Gastroesophageal reflux, Vomiting, Sensorineural hearing impairmen... |
ORPHA:298 |
Toriello-Carey Syndrome |
|
Low-set ears, Clinodactyly, Hearing impairment, Micrognathia, Hypoplasia of the corpus callosum, ... |
ORPHA:3338 |
Duane Retraction Syndrome |
|
Hearing impairment, Micrognathia, Sensorineural hearing impairment, Talipes equinovarus, Aplasia/... |
ORPHA:233 |
Myhre Syndrome |
|
Low-set ears, Limitation of joint mobility, Clinodactyly, Hearing impairment, Hypoplastic iliac w... |
OMIM:139210 |
Crouzon Syndrome |
|
Hypoplasia of the maxilla, Conductive hearing impairment, Hearing impairment, Multiple suture cra... |
ORPHA:207 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Platyspondyly, Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Ge... |
OMIM:617974 |
Jackson-Weiss Syndrome |
|
Hypoplasia of the maxilla, Toe syndactyly, Preaxial foot polydactyly, Abnormal palate morphology,... |
ORPHA:1540 |
Esophageal Atresia |
|
Abnormal vertebral morphology, Clinodactyly, Hearing impairment, Esophagitis, Oral aversion, Epis... |
ORPHA:1199 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Low-set ears, Broad thumb, Carious teeth, Natal tooth, Secondary microcephaly, Micrognathia, Sens... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Low-set ears, Broad thumb, Carious teeth, Natal tooth, Secondary microcephaly, Micrognathia, Sens... |
ORPHA:353277 |
Zttk Syndrome |
|
Low-set ears, Small hand, Narrow mouth, Hypoplasia of the corpus callosum, Feeding difficulties i... |
OMIM:617140 |
Cardiofaciocutaneous Syndrome |
|
Genu valgum, Excessive wrinkled skin, Short neck, Feeding difficulties in infancy, High palate, B... |
ORPHA:1340 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Low-set ears, Elbow dislocation, Micrognath... |
OMIM:210710 |
Interstitial Lung Disease 1 |
|
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... |
OMIM:619611 |
Marden-Walker Syndrome |
|
Low-set ears, Micrognathia, Narrow mouth, Agenesis of corpus callosum, Arachnodactyly, Talipes, R... |
ORPHA:2461 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Pulmonary hypoplasia |
OMIM:618174 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
You-Hoover-Fong Syndrome |
|
Vascular ring, Clinodactyly, Hearing impairment, Kyphoscoliosis, Microcephaly, Coarctation of aor... |
OMIM:616954 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Restrictive Dermopathy 2 |
|
Hypoplastic facial bones, Microretrognathia, Gastroesophageal reflux, Overtubulated long bones, R... |
OMIM:619793 |
Mosaic Trisomy 16 |
|
Craniofacial asymmetry, Short forearm, Meckel diverticulum, Short thumb, Clinodactyly, Anteriorly... |
ORPHA:1708 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
Mucopolysaccharidosis, Type Iva |
|
Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Hearing impairment, Ge... |
OMIM:253000 |
Diaphragmatic Hernia 5, X-Linked |
|
Neonatal death |
OMIM:306950 |
Ophthalmomandibulomelic Dysplasia |
|
Mesomelia, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Lateral humeral condyle ... |
ORPHA:2741 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Vertebral segmentation d... |
OMIM:277300 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Low-set ears, Aortic root aneurysm, Hearing impairment, Hypoplasia of the corpus callosum, Agenes... |
OMIM:607872 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au... |
ORPHA:2549 |
Alagille Syndrome 1 |
|
Low-set ears, Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Hepatic failu... |
OMIM:118450 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Low-set ears, Wide nasal bridge, Hypoplasia of the zygomatic bone, Umbilical hernia, Genu valgum,... |
ORPHA:1778 |
Atelosteogenesis Type I |
|
Platyspondyly, Low-set ears, Rhizomelia, Joint dislocation, Absent or minimally ossified vertebra... |
ORPHA:1190 |
Mucopolysaccharidosis, Type Ivb |
|
Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Hearing impairment, Ge... |
OMIM:253010 |
Doors Syndrome |
|
Low-set ears, Atresia of the external auditory canal, Equinovarus deformity, Feeding difficulties... |
ORPHA:79500 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Wide nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the pons, Hearing impairment, Retrogn... |
OMIM:620157 |
Raine Syndrome |
|
Low-set ears, Natal tooth, Arthrogryposis multiplex congenita, Long hallux, Cerebral calcificatio... |
OMIM:259775 |
Hypophosphatasia, Childhood |
|
Rachitic rosary, Carious teeth, Premature loss of primary teeth, Craniosynostosis, Bowing of the ... |
OMIM:241510 |
Kagami-Ogata Syndrome |
|
Thin ribs, Hypoplasia of the maxilla, Retrognathia, Long philtrum, Micrognathia, Kyphoscoliosis, ... |
OMIM:608149 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Bilateral lung agenesis, Neonatal death |
OMIM:601612 |
Thanatophoric Dysplasia Type 1 |
|
Platyspondyly, Hypoplastic ilia, Micromelia, Hearing impairment, Joint stiffness, Femoral bowing,... |
ORPHA:1860 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Hypoplasia of the maxilla, Microcephaly, Anal atresia, Mandibular prognathia, Macrotia |
ORPHA:93950 |
Ollier Disease |
|
Platyspondyly, Micromelia, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromato... |
ORPHA:296 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Overlapping toe, Micrognathia, Arachnodactyly, Talipes equinovarus, Radioulnar synostosis, Cerebr... |
ORPHA:436003 |
Sweeney-Cox Syndrome |
|
Low-set ears, Crumpled ear, Velopharyngeal insufficiency, Hearing impairment, Micrognathia, Narro... |
OMIM:617746 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Short distal phalanx of finger, Hypoplasia of the maxilla, Abnormality of the dentition, Osteolysis |
ORPHA:2776 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Low-set ears, Aortic root aneurysm, Feeding difficulties, Chronic constipation, Short neck, Feedi... |
OMIM:617506 |
Folinic Acid-Responsive Seizures |
|
Frontotemporal cerebral atrophy, Respiratory distress, Apnea, Sensorineural hearing impairment, A... |
ORPHA:79097 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Dyspnea, Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion |
OMIM:234810 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
High, narrow palate, Retrognathia, Abnormal lip morphology, Respiratory distress, Long foot, Abno... |
ORPHA:2707 |
Gorlin-Chaudhry-Moss Syndrome |
|
Short distal phalanx of finger, Abnormality of the dentition, Hypoplasia of the maxilla, Conducti... |
ORPHA:2095 |
Tetrasomy 9P |
|
Hypoplastic scapulae, Small hand, Abnormal earlobe morphology, Feeding difficulties, Micrognathia... |
ORPHA:3310 |
Osteogenesis Imperfecta |
|
Thin ribs, Carious teeth, Aortic root aneurysm, Hearing impairment, Abnormal tibia morphology, En... |
ORPHA:666 |
Lateral Meningocele Syndrome |
|
Low-set ears, Craniofacial hyperostosis, Atresia of the external auditory canal, Micrognathia, Se... |
ORPHA:2789 |
Marshall Syndrome |
|
Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Hypoplasia of the zyg... |
ORPHA:560 |
Mosaic Trisomy 1 |
|
Low-set ears, Hand clenching, Toe syndactyly, Broad 2nd toe, Agenesis of corpus callosum, Arachno... |
ORPHA:1692 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Tachypnea, Dyspnea, Hemosiderin... |
OMIM:616414 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Micromelia |
ORPHA:93283 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna |
ORPHA:1118 |
2Q31.1 Microdeletion Syndrome |
|
Low-set ears, Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Short n... |
ORPHA:251014 |
Branchioskeletogenital Syndrome |
|
Carious teeth, Short neck, Thoracolumbar kyphoscoliosis, Hypoplasia of the maxilla, Downturned co... |
ORPHA:1299 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... |
OMIM:605809 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Cerebellar vermis hypoplasia, Polymicrogyria, Butterfly vertebrae, ... |
OMIM:304050 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Narrow palate, Lower limb asymmetry, Tooth agenesis, Abnormality of the wrist, Abnormal femur mor... |
ORPHA:2063 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormal vertebral morphology, Low-set ears, Hearing impairment, Prominent scalp veins, Subluxati... |
ORPHA:536471 |
Hydrolethalus Syndrome 1 |
|
Low-set ears, Abnormal cortical gyration, Stillbirth, Preaxial hand polydactyly, Upper limb under... |
OMIM:236680 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
High, narrow palate, Short distal phalanx of finger, Joint stiffness, Micrognathia, Bilateral sin... |
ORPHA:2516 |
Floating-Harbor Syndrome |
|
Low-set ears, Carious teeth, Clinodactyly, Short neck, Broad fingertip, Celiac disease, Dislocate... |
ORPHA:2044 |
Hajdu-Cheney Syndrome |
|
Low-set ears, Periodontitis, Hearing impairment, Open bite, Micrognathia, Narrow mouth, Decreased... |
ORPHA:955 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Dubowitz Syndrome |
|
Low-set ears, Carious teeth, Velopharyngeal insufficiency, Micrognathia, Feeding difficulties in ... |
OMIM:223370 |
Kleefstra Syndrome |
|
Limitation of joint mobility, Hearing impairment, Agenesis of corpus callosum, Talipes equinovaru... |
ORPHA:261494 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... |
OMIM:300106 |
Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis |
ORPHA:137914 |
Craniofaciofrontodigital Syndrome |
|
Large hands, Finger joint hypermobility, Patent ductus arteriosus, Osteopenia, Gastrointestinal h... |
ORPHA:363705 |
2Q37 Microdeletion Syndrome |
|
Small hand, Toe syndactyly, Finger syndactyly, Bilateral single transverse palmar creases, Short ... |
ORPHA:1001 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Recurrent otitis media, Recurrent hand flapping, Submucous cleft har... |
OMIM:619680 |
Frontometaphyseal Dysplasia 1 |
|
Broad phalanges of the hand, Hearing impairment, Partial fusion of carpals, Carpal synostosis, Ge... |
OMIM:305620 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Micromelia, Abnormality of the wrist, Short humerus, Microcephaly, Aplasia/Hypoplasia of the ulna... |
ORPHA:2491 |
Laron Syndrome |
|
Limb undergrowth |
OMIM:262500 |
Thalidomide Embryopathy |
|
Abnormality of the outer ear, Hearing impairment, Preaxial hand polydactyly, Radial club hand, An... |
ORPHA:3312 |
ERI1-related disease |
|
Low-set ears, Velopharyngeal insufficiency, Micrognathia, Pes planus, Patellar dislocation, Finge... |
OMIM:608739 |
Mgat2-Cdg |
|
Osteopenia, Gastroesophageal reflux, Dental crowding, Prominent antihelix, Abnormal earlobe morph... |
ORPHA:79329 |
Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Respiratory distress, Pleural effusion, Tachypnea, Pneumothorax, Acute infectious pneu... |
ORPHA:36238 |
Myhre Syndrome |
|
Craniofacial hyperostosis, Hearing impairment, Narrow mouth, Hypoplasia of the maxilla, Abnormal ... |
ORPHA:2588 |
Zimmermann-Laband Syndrome 1 |
|
Low-set ears, Aortic root aneurysm, Hearing impairment, High palate, Gingival fibromatosis, Paten... |
OMIM:135500 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Limb undergrowth, Bowing of the legs |
ORPHA:156728 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Cerebral cortical atrophy, Cleft soft palate, Thin upper lip vermilion, Primary microcephaly, Upl... |
OMIM:620183 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Pleural effusion, Pneumothorax, Dyspnea, Bronchiectasis |
ORPHA:411703 |
Frontometaphyseal Dysplasia |
|
Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Hearing impairment... |
ORPHA:1826 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Vascular d... |
ORPHA:2924 |
Saethre-Chotzen Syndrome |
|
Partial duplication of the distal phalanx of the 3rd finger, Low-set ears, Lambdoidal craniosynos... |
OMIM:101400 |
Hajdu-Cheney Syndrome |
|
Low-set ears, Genu valgum, Fibular bowing, Narrow mouth, Micrognathia, Crowded carpal bones, Abse... |
OMIM:102500 |
Kabuki Syndrome 2 |
|
Low-set ears, Natal tooth, Hearing impairment, Recurrent otitis media, Micrognathia, Feeding diff... |
OMIM:300867 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
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Low-set ears, Wide nasal bridge, Long philtrum, Widely spaced teeth, Trident pelvis, Short lingua... |
OMIM:619479 |
Buratti-Harel Syndrome |
|
Low-set ears, Bifid uvula, Broad thumb, Dilation of Virchow-Robin spaces, Velopharyngeal insuffic... |
OMIM:619314 |
Andersen-Tawil Syndrome |
|
Low-set ears, Abnormality of the dentition, Small hand, Hypoplasia of the maxilla, Dental crowdin... |
ORPHA:37553 |
Treacher-Collins Syndrome |
|
Open bite, Micrognathia, Narrow mouth, Encephalocele, Abnormality of the middle ear, High palate,... |
ORPHA:861 |
Coffin-Lowry Syndrome |
|
Hearing impairment, Cutis marmorata, Open mouth, Sensorineural hearing impairment, Pes planus, Ev... |
OMIM:303600 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 5th finger, Low-set ears, Broad thumb, Gastroesophageal reflux, Sandal gap, Broad hallux, C... |
OMIM:600987 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Palmoplantar keratoderma, Hypoplasia of the zygomatic bone, A... |
ORPHA:1555 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... |
ORPHA:1986 |
Hypochondroplasia |
|
Micromelia, Short toe, Abnormal femur morphology, Bowing of the long bones, Brachydactyly, Abnorm... |
ORPHA:429 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Unilateral cleft lip, Micrognathia, Submucous cleft hard palate, Joint hypermobility, Supernumera... |
OMIM:619122 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Dental malocclusion, Contractures of the large joints, Nasogastric tube feeding, Resp... |
ORPHA:329178 |
Feingold Syndrome Type 1 |
|
Interrupted aortic arch, Toe syndactyly, Conductive hearing impairment, Short thumb, Duodenal atr... |
ORPHA:391641 |
Congenital Varicella Syndrome |
|
Micromelia |
ORPHA:291 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Bilateral triphalangeal thumbs, Carious teeth, Xerostomia, Hearing impairment, Delayed eruption o... |
OMIM:149730 |
Lethal Congenital Contracture Syndrome 8 |
|
Hammertoe, Death in infancy, Neonatal death |
OMIM:616287 |
Hutchinson-Gilford Progeria Syndrome |
|
Limitation of joint mobility, Prominent ear helix, Ankyloglossia, Limited hip movement, Micrognat... |
ORPHA:740 |
Gaucher Disease, Perinatal Lethal |
|
Low-set ears, Hepatic failure, Everted upper lip vermilion, Retrognathia, Respiratory distress, A... |
OMIM:608013 |
Verloove Vanhorick-Brubakk Syndrome |
|
Low-set ears, Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal form of the ver... |
ORPHA:3429 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Intraalveolar phospholipid accumulation, Cyanosis, Dyspnea, Hypoxemia |
ORPHA:747 |
Thoracomelic Dysplasia |
|
Genu valgum, Short ribs, Limb undergrowth, Diaphyseal undertubulation, Abnormal fibula morphology... |
ORPHA:1803 |
Native American Myopathy |
|
Progressive congenital scoliosis, Bifid uvula, Gastroesophageal reflux, Conductive hearing impair... |
ORPHA:168572 |
Acquired Methemoglobinemia |
|
Respiratory distress, Hypoxemia, Dyspnea, Cyanosis |
ORPHA:464453 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Hypoplasia of the corpus callosum, Carpal bone hypoplasia, Short neck, Advanced ossification of c... |
OMIM:610442 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Short 5th toe, Hearing impairment, Cleft soft palate, Hypoplasia of the corpus callosum, Osteocho... |
ORPHA:268261 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Biparietal narrowing, Thick vermilio... |
ORPHA:228396 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Hand clenching, Hearing impairment, Apnea, Recurrent hand flapping, Protruding tongue, Cyanosis, ... |
OMIM:619580 |
Fgfr2-Related Bent Bone Dysplasia |
|
Incomplete ossification of pubis, Low-set ears, Abnormality of the outer ear, Coronal craniosynos... |
ORPHA:313855 |
Schimke Immunoosseous Dysplasia |
|
Platyspondyly, Wide nasal bridge, Osteopenia, Shallow acetabular fossae, Hypoplasia of the capita... |
OMIM:242900 |
Acheiropody |
|
Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... |
OMIM:200500 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Absent forearm, Cupped ear, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hyp... |
OMIM:119100 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Gastroesophageal reflux, Umbilical hernia, Elbow contracture, Knee contracture, Hypoventilation, ... |
OMIM:620275 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Wide nasal bridge, Abnormality of the dentition, Carious teeth, Toe syndactyly, Finger syndactyly... |
ORPHA:3253 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Low-set ears, Hydranencephaly, Microretrognathia, Hypoplasia of the brainstem, Single transverse ... |
OMIM:236500 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Tessier cleft, Cranium bifidum occultum, Hypoplasia of the frontal bone, Hypoplasia of the maxill... |
ORPHA:306542 |
Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis |
ORPHA:306 |
Osteoporosis-Pseudoglioma Syndrome |
|
Platyspondyly, Osteopenia, Pathologic fracture, Recurrent fractures, Increased susceptibility to ... |
OMIM:259770 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Low-set ears, Exaggerated median tongue furrow, Cleft mandible, Micrognathia, Sensorineural heari... |
OMIM:608670 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Narrow mouth, Arachnodactyly, Talipes equinovarus, Ulnar deviation of finger, ... |
ORPHA:2215 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Genu valgum, Cyanosis, Hypoplasia of the corpus callosum, Sensorineura... |
ORPHA:488627 |
Momo Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Long fo... |
ORPHA:2563 |
Osteogenesis Imperfecta, Type Vii |
|
Delayed cranial suture closure, Multiple prenatal fractures, Protrusio acetabuli, Osteopenia, Hea... |
OMIM:610682 |
Mesomelic Dysplasia, Nievergelt Type |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Camptodactyly of finger, Abnorma... |
ORPHA:2633 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Dyspnea, Hypoxemia, H... |
ORPHA:79127 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ... |
OMIM:250220 |
Acrorenal Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Abnormal morphology of... |
ORPHA:971 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Bifid uvula, Absence of the sacrum, Spinal dysraphism, Butterfly vertebrae, Submucous cleft hard ... |
OMIM:617660 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Low-set ears, Hearing impairment, Hypoplasia of the corpus callosum, Arachnodactyly, Feeding diff... |
ORPHA:500150 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
High, narrow palate, Abnormal oral mucosa morphology, Aplasia/Hypoplasia of the earlobes, Wide na... |
ORPHA:1968 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress |
ORPHA:238329 |
Opitz-Kaveggia Syndrome |
|
Joint contracture of the hand, Broad thumb, Clinodactyly, Facial wrinkling, Micrognathia, Sensori... |
OMIM:305450 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ... |
ORPHA:440354 |
Velocardiofacial Syndrome |
|
Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie... |
OMIM:192430 |
Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short 1st metacarpal, Short thumb, Conductive hearing impairment, Absent septum pel... |
OMIM:609053 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Wide nasal bridge, Hearing impairment, Feeding difficulties, Cleft soft palate, Micrognathia, Sub... |
ORPHA:2282 |
Heterotaxy, Visceral, 1, X-Linked |
|
Low-set ears, Posteriorly placed anus, Left superior vena cava draining to coronary sinus, Bilate... |
OMIM:306955 |
Radio-Renal Syndrome |
|
High, narrow palate, Micromelia, Downturned corners of mouth, Abnormal form of the vertebral bodi... |
ORPHA:3015 |
Lethal Congenital Contracture Syndrome 10 |
|
Low-set ears, Narrow palate, Long philtrum, Stiff neck, Broad ribs, Overlapping fingers, Femoral ... |
OMIM:617022 |
Peters-Plus Syndrome |
|
Low-set ears, Square pelvis bone, Hearing impairment, Micrognathia, Short lingual frenulum, Broad... |
OMIM:261540 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Low-set ears, Cone-shaped epiphysis, Respiratory distress, Horizontal ribs, Aplasia of the epiglo... |
OMIM:617088 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Micrognathia, Poor suck |
OMIM:300580 |
Rapp-Hodgkin Syndrome |
|
2-3 toe cutaneous syndactyly, Bifid uvula, Conical tooth, Carious teeth, Palmoplantar keratoderma... |
OMIM:129400 |
Laurin-Sandrow Syndrome |
|
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Aplasi... |
ORPHA:2378 |
Pelger-Huet Anomaly |
|
Abnormality of the dentition, Short 3rd metacarpal, Upper limb undergrowth, Recurrent otitis medi... |
OMIM:169400 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Low-set ears, Tooth malposition, Small hand, Limitation of joint mobility, Hearing impairment, Ov... |
ORPHA:480880 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Atresia of the external auditory canal, Unilateral external ear deformit... |
OMIM:164210 |
Feingold Syndrome 1 |
|
Low-set ears, Interrupted aortic arch, Wide nasal bridge, Short thumb, Short toe, Duodenal atresi... |
OMIM:164280 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Tooth malposition, Periodontitis, Elbow dislocation, Aortic root aneurysm, Prominent veins on tru... |
ORPHA:536532 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Aortic rupture, Osteopenia, Atlantoaxial instability, Conductive hearing impairment, Bruising sus... |
OMIM:614557 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Neonatal death, Jaundice, Pulmonary hypoplasia |
OMIM:231680 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Platyspondyly, Osteopenia, Carious teeth, Femoral bowing, Mixed hearing impairment, Osteoporosis,... |
OMIM:126550 |
Goldberg-Shprintzen Syndrome |
|
Low-set ears, Wide nasal bridge, Small hand, Hypoplasia of the maxilla, Hypoplasia of the brainst... |
OMIM:609460 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Ankle flexion contracture, Diarrhea, Abnormal fear-induced behavior, Hearing impairment, Nausea, ... |
ORPHA:100924 |
Trehalase Deficiency |
|
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain |
ORPHA:103909 |
Aplasia Cutis Congenita |
|
Erythema, Toe syndactyly, Spinal dysraphism, Finger syndactyly, Abnormality of bone mineral density |
ORPHA:1114 |
Walker-Warburg Syndrome |
|
Low-set ears, Bifid uvula, Abnormal cortical gyration, Polymicrogyria, Absent septum pellucidum, ... |
ORPHA:899 |
Waardenburg Syndrome Type 3 |
|
Synostosis of carpal bones, Hearing impairment, Tracheomalacia, Camptodactyly of finger, Cutaneou... |
ORPHA:896 |
Branchiooculofacial Syndrome |
|
Low-set ears, Hearing impairment, Premature graying of hair, Micrognathia, Sensorineural hearing ... |
OMIM:113620 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Dyspnea, Dilatation of the cerebral artery, Back pain, Abdominal distention |
OMIM:174050 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Cupped ear, Clinodactyly of the 5th f... |
OMIM:167730 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Secondary microcephaly, Micrognathia, Chronic constipation, Feeding difficulties in infancy, Pes ... |
ORPHA:476126 |
Lacrimoauriculodentodigital Syndrome |
|
Low-set ears, Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Xerostomia, Microgn... |
ORPHA:2363 |
Meconium Aspiration Syndrome |
|
Atelectasis, Aspiration pneumonia, Respiratory distress, Pneumothorax, Hypoxemia |
ORPHA:70588 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Platyspondyly, Cerebellar vermis hypoplasia, Polysyndactyly of hallux, Microglossia, Postaxial po... |
OMIM:263520 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Pulmonary hypoplasia |
OMIM:616867 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Short 5th finger, Toe clinodactyly, Interrupted aortic arch, Bulbous tips of toes, Intracranial h... |
ORPHA:163979 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Gastroesophageal reflux, Decreased liver function, Polymicrogyria, Respiratory distress, Death in... |
OMIM:616974 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Long philtrum, Camptodactyly of finger, Abnormal form of the vertebral bodies,... |
ORPHA:2311 |
Pseudoachondroplasia |
|
Abnormal femoral epiphysis morphology, Hypoplasia of the odontoid process, Short femoral neck, Fl... |
ORPHA:750 |
Hypophosphatasia, Infantile |
|
Unossified vertebral bodies, Vertebral clefting, Anorexia, Increased susceptibility to fractures,... |
OMIM:241500 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Hypoplasia of the maxilla, Mandibular prognathia, Long foot, Chronic constipation, Long palm, Mac... |
OMIM:300676 |
Acrofacial Dysostosis, Cincinnati Type |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Median pseudocleft lip, Micrognathia, A... |
OMIM:616462 |
Boomerang Dysplasia |
|
Wide nasal bridge, Fibular aplasia, Neonatal death, Hypoplastic iliac body, Absent radius |
OMIM:112310 |
X-Linked Hypophosphatemia |
|
Limitation of joint mobility, Genu valgum, Sensorineural hearing impairment, Bowing of the long b... |
ORPHA:89936 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Microglossia, Respiratory distress, Low-set, posteriorly rotated ears, Narrow internal auditory c... |
ORPHA:990 |
Branchiogenic Deafness Syndrome |
|
Short distal phalanx of finger, Conductive hearing impairment, Atresia of the external auditory c... |
ORPHA:50815 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Abnormal earlobe morphology, Ankyloglossia, Narrow mouth, Sensorineural hearing i... |
ORPHA:261330 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Inflammation of the large intestine, Secretory diarrhea, Abdominal distention |
OMIM:616868 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Low-set ears, Micrognathia, Narrow mouth, Arachnodactyly, Talipes equinovarus, Radioulnar synosto... |
OMIM:130070 |
Myopathy And Diabetes Mellitus |
|
Hyporeflexia of upper limbs, Shoulder girdle muscle weakness, Respiratory distress, Sensorineural... |
ORPHA:2596 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Abnormal vertebral morphology, Gastroesophageal reflux, Conductive hearing impairment, Feeding di... |
ORPHA:261197 |
Keutel Syndrome |
|
Short distal phalanx of finger, Hearing impairment, Recurrent otitis media, Calcification of cart... |
ORPHA:85202 |
Pfeiffer Syndrome |
|
Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe... |
OMIM:101600 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy... |
OMIM:617604 |
Osteogenesis Imperfecta, Type Xvii |
|
Platyspondyly, Dentinogenesis imperfecta, Thin metacarpal cortices, Recurrent fractures, Hearing ... |
OMIM:616507 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Synostosis of carpal bones, Micromelia, Upper limb undergrowth, Genu valgum, Short palm, Coxa var... |
ORPHA:93351 |
Toluene Embryopathy |
|
Low-set ears, Hypoplasia of the zygomatic bone, Micrognathia, Protruding ear, Microcephaly, Smoot... |
ORPHA:1920 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atelectasis, Respiratory distress, Cystic pattern on pulmonary HRCT, Oxygen desaturation on exert... |
OMIM:610978 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Wide nasal bridge, Respiratory distress, Abnormality of primary teeth, Tented upper lip vermilion... |
ORPHA:438216 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Conductive hearing impairment, Retrognathia, Hypoplasia of the zygomatic bone,... |
OMIM:613717 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Leukoencephalopathy, Interrupted aortic arch, Gastroesophageal reflux, Vomiting, Cerebral atrophy... |
ORPHA:17 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Wide nasal bridge, Conical tooth, Cleft lip, Palmoplantar keratoderma, Atresia of the external au... |
OMIM:106260 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Pulmonary hypoplasia |
OMIM:241800 |
Donohue Syndrome |
|
Low-set ears, Thick lower lip vermilion, Long foot, Gingival overgrowth, Large hands, Abdominal d... |
OMIM:246200 |
Spastic Paraplegia 16, X-Linked |
|
Short distal phalanx of finger, Hypoplasia of the maxilla, Restlessness |
OMIM:300266 |
Stüve-Wiedemann Syndrome |
|
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Talipes equinovarus, Feeding... |
ORPHA:3206 |
Otosclerosis 7 |
|
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... |
OMIM:611572 |
Diamond-Blackfan Anemia 10 |
|
Low-set ears, Conductive hearing impairment, Hearing impairment, Atresia of the external auditory... |
OMIM:613309 |
Laryngomalacia |
|
Respiratory distress |
OMIM:150280 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Abnormal limb bone morphology |
ORPHA:2204 |
Acrocallosal Syndrome |
|
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip ve... |
OMIM:200990 |
Diamond-Blackfan Anemia |
|
Low-set ears, Wide nasal bridge, Cleft lip, Absent thumb, Short thumb, Abnormality of the thenar ... |
ORPHA:124 |
Trisomy 8Q |
|
Wide nasal bridge, Camptodactyly of finger, Low-set, posteriorly rotated ears, Myelomeningocele, ... |
ORPHA:1752 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Underdeveloped tragus, Bilateral cleft pa... |
OMIM:610829 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Cerebral hypoplasia, Reduced cerebral white matter volume, Respiratory distress, Hypoplasia of th... |
OMIM:617977 |
Catel-Manzke Syndrome |
|
Low-set ears, Ulnar deviation of the 2nd finger, Genu valgum, Narrow mouth, Micrognathia, Talipes... |
OMIM:616145 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal vertebral morphology, Low-set ears, Hypoplastic scapulae, Limitation of joint mobility, ... |
ORPHA:95699 |
Restrictive Dermopathy 1 |
|
Low-set ears, Natal tooth, Micrognathia, Narrow mouth, Neonatal death, Patent ductus arteriosus, ... |
OMIM:275210 |
Adiposis Dolorosa |
|
Painful subcutaneous lipomas, Constipation, Abdominal distention |
OMIM:103200 |
Apert Syndrome |
|
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... |
OMIM:101200 |
Kyphomelic Dysplasia |
|
Micromelia, Micrognathia, Missing ribs, Bowing of the long bones, Large hands, Abnormal metaphysi... |
ORPHA:1801 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Feeding difficulties in infancy, Dysphagia, Infantile sensorineural hearing... |
ORPHA:254875 |
Hereditary Methemoglobinemia |
|
Exertional dyspnea, Cyanosis |
ORPHA:621 |
Coffin-Siris Syndrome 12 |
|
Low-set ears, Broad thumb, Velopharyngeal insufficiency, Delayed cranial suture closure, Microgna... |
OMIM:619325 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic root aneurysm, Severe conductive hearing impairment, Poor wound healing, Genu valgum, Pes ... |
ORPHA:230851 |
Mogs-Cdg |
|
Retrognathia, Nasogastric tube feeding, Respiratory distress, Overlapping fingers, Apnea, Hypoven... |
ORPHA:79330 |
Prolidase Deficiency |
|
Erythema, Carious teeth, Palmoplantar keratoderma, Hearing impairment, Hypoplasia of the zygomati... |
ORPHA:742 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Wide nasal bridge, Conical tooth, Palmoplantar keratoderma, Finger syndactyly, Delayed eruption o... |
ORPHA:1071 |
Craniosynostosis 2 |
|
Unicoronal synostosis, Cleft soft palate, Bicoronal synostosis, Wormian bones, Triphalangeal thum... |
OMIM:604757 |
Hypoadrenocorticism, Familial |
|
Apnea, Cyanosis |
OMIM:240200 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Low-set ears, Sandal gap, Hypoplasia of the zygomatic bone, Retrognathia, Abnormal dental enamel ... |
ORPHA:1812 |
Triploidy |
|
Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Intestinal malrotation, Low-set, po... |
ORPHA:3376 |
Mucolipidosis Type Ii |
|
Limitation of joint mobility, Hip contracture, Sensorineural hearing impairment, Talipes equinova... |
ORPHA:576 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Low-set ears, Occipital encephalocele, Twelfth rib hypoplasia, Feeding difficulties, Abnormal bas... |
ORPHA:397715 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Low-set ears, Interrupted aortic arch, Tetralogy of Fallot, Overlapping toe, Right aortic arch, C... |
OMIM:617478 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Erythema, Angioedema |
ORPHA:100057 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Joint contracture of the hand, Subdural hemorrhage, Nasogastric tube feeding, Respiratory distres... |
OMIM:620278 |
Ophthalmoplegia, External, And Myopia |
|
Absent Achilles reflex, Absent patellar reflexes, Spina bifida |
OMIM:311000 |
Congenital Tracheomalacia |
|
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, In... |
ORPHA:95430 |
Congenital Pancreatic Cyst |
|
Vomiting, Anorexia, Abdominal pain, Abdominal distention, Jaundice |
ORPHA:313906 |
Nicolaides-Baraitser Syndrome |
|
Broad 2nd toe, Short lingual frenulum, Excessive wrinkled skin, Everted lower lip vermilion, Shor... |
OMIM:601358 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Bifid uvula, Retrognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Mi... |
ORPHA:2521 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Wide nasal bridge, Dental crowding, Feeding difficulties, Protruding tongue, Submucous cleft hard... |
OMIM:618106 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Low-set ears, Wide nasal bridge, Microretrognathia, Hypoplasia of the zygomatic bone, Sacral dimp... |
OMIM:613603 |
Short Stature, Brussels Type |
|
Delayed epiphyseal ossification, Calcification of cartilage, Microretrognathia, Macrocephaly |
ORPHA:2867 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Arthrogryposis-like hand anomaly, Respiratory distress, Absent Achilles reflex, Paradoxical respi... |
OMIM:620011 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Genu v... |
ORPHA:63446 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:255320 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Conductive hearing impairment, Hypoplasia of the zygomatic bone, Limitation of joi... |
ORPHA:3145 |
Ruvalcaba Syndrome |
|
Small hand, Micromelia, Short foot, Short metatarsal, Short phalanx of finger, Short metacarpal, ... |
OMIM:180870 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Low-set ears, Intercrural pterygium, Talipes calcaneovalgus, Exostosis of the external auditory c... |
OMIM:265000 |
Sifrim-Hitz-Weiss Syndrome |
|
Low-set ears, Bifid uvula, Cupped ear, Hearing impairment, Anteriorly placed anus, Tetralogy of F... |
OMIM:617159 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Abnormal caudate nucleus morphology, Submucous cleft hard palate, Caudate at... |
ORPHA:209908 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Shoulder girdle muscle weakness, Cyanosis, Thoracic kyphoscoliosis, Triceps weakness, Abnormality... |
ORPHA:98913 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Tooth malposition, Secondary microcephaly, Long hallux, Recurrent otitis media, Genu valgum, Open... |
ORPHA:261537 |
X-Linked Intellectual Disability, Porteous Type |
|
Hypoplasia of the maxilla, Cupped ear, Short philtrum, Mandibular prognathia, Macrotia |
ORPHA:93945 |
Holoprosencephaly 13, X-Linked |
|
Low-set ears, Alobar holoprosencephaly, Hearing impairment, Thoracic hemivertebrae, Micrognathia,... |
OMIM:301043 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Ulnar deviation of finger, Brachydactyly, Micromelia, Camptodactyly of finger |
ORPHA:2928 |
3Mc Syndrome 1 |
|
Lambdoidal craniosynostosis, Caudal appendage, Hearing impairment, Broad foot, Radioulnar synosto... |
OMIM:257920 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Low-set ears, Mandibular prognathia, Head-banging, Unilateral cleft lip, Focal polymicrogyria, Th... |
OMIM:619103 |
Wolman Disease |
|
Acute hepatic failure, Vomiting, Death in infancy, Abdominal distention |
OMIM:620151 |
Chromosome 17Q12 Duplication Syndrome |
|
Broad thumb, Cleft soft palate, Micrognathia, Smooth philtrum, Esophageal atresia, Brachydactyly |
OMIM:614526 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Vascular ring, Polymicrogyria, Hypoplasia of the corpus callosum, Knee flexion contracture, Posta... |
OMIM:603387 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hearing impairment, Respiratory distress, Nocturnal hypoventilation, Death in childhood, Hand mus... |
OMIM:211530 |
Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the tongue, Aplasia/Hypoplasia of the corpus callosum, Macrotia, Low-set, p... |
ORPHA:2167 |
Meier-Gorlin Syndrome 7 |
|
Low-set ears, Hearing impairment, Narrow mouth, Aplasia/Hypoplasia of the patella, Sensorineural ... |
OMIM:617063 |
Primrose Syndrome |
|
Hearing impairment, Cerebral calcification, Genu valgum, Narrow mouth, Hip contracture, Hypoplasi... |
OMIM:259050 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Low-set ears, Retrognathia, Butterfly vertebrae, Submucous cleft hard palate, Microcephaly, Atten... |
OMIM:619227 |
Camurati-Engelmann Disease |
|
Carious teeth, Limitation of joint mobility, Hearing impairment, Abnormal tibia morphology, Genu ... |
ORPHA:1328 |
Fibrous Dysplasia Of Bone |
|
Hearing impairment, Osteomalacia, Abnormal tibia morphology, Abnormality of the sphenoid sinus, B... |
ORPHA:249 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Micromelia, Metaphyseal spurs, Posterior rib cupping, Irregular epiphyses, Small e... |
OMIM:608728 |
Short Stature-Micrognathia Syndrome |
|
Rhizomelia, Gastroesophageal reflux, Broad femoral neck, Retrognathia, Feeding difficulties, Micr... |
OMIM:617164 |
Distal Deletion 19P |
|
Hypoplasia of the maxilla, Conductive hearing impairment, Umbilical hernia, Low-set, posteriorly ... |
ORPHA:96129 |
Waardenburg Syndrome, Type 1 |
|
Wide nasal bridge, Supernumerary vertebrae, Premature graying of hair, Myelomeningocele, Congenit... |
OMIM:193500 |
Gabriele-De Vries Syndrome |
|
Low-set ears, Abnormality of the dentition, Aortopulmonary collateral arteries, Sandal gap, Thick... |
OMIM:617557 |
Hsd10 Disease, Infantile Type |
|
Frontotemporal cerebral atrophy, Hearing impairment, Cerebral atrophy, Abnormal basal ganglia mor... |
ORPHA:391428 |
Synaptic Congenital Myasthenic Syndromes |
|
Mandibular prognathia, Hand muscle weakness, Respiratory distress, Hypoventilation, Triangular mo... |
ORPHA:98915 |
Familial Osteodysplasia, Anderson Type |
|
Tooth malposition, Carious teeth, Elbow dislocation, Abnormal earlobe morphology, Aplasia/hypopla... |
ORPHA:2769 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Low-set ears, Hypoplasia of the maxilla, Cupped ear, Abnormality of cartilage of external ear, Mi... |
ORPHA:2399 |
Frontal Encephalocele |
|
Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Encephalocele, Hydrocephalus, ... |
ORPHA:1931 |
Bresek Syndrome |
|
Low-set ears, Hearing impairment, Neonatal death, Protruding ear, Aganglionic megacolon, Microcep... |
ORPHA:85284 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Hearing impairment, Open bite, Micrognathia, Agenesis of corpus callosum, Foot... |
ORPHA:2750 |
Dravet Syndrome |
|
Global brain atrophy, Tibial torsion, Obsessive-compulsive trait, Pes valgus, Limited knee extens... |
ORPHA:33069 |
Crouzon Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Dental crowding... |
OMIM:123500 |
Acrocardiofacial Syndrome |
|
Low-set ears, Cerebral cortical atrophy, Wide nasal bridge, Toe syndactyly, Joint dislocation, Fi... |
ORPHA:2008 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Pulmonary hypoplasia |
OMIM:601163 |
Au-Kline Syndrome |
|
Aortic root aneurysm, Overlapping toe, Feeding difficulties, Open mouth, Sensorineural hearing im... |
OMIM:616580 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Pneumonia |
ORPHA:596 |
Cardioacrofacial Dysplasia 1 |
|
Conical tooth, Hypoplasia of the maxilla, Diastema, Genu valgum, Postaxial polydactyly, Limb unde... |
OMIM:619142 |
Mowat-Wilson Syndrome |
|
Tooth malposition, Recurrent otitis media, Genu valgum, Open mouth, Hypoplasia of the corpus call... |
ORPHA:2152 |
Ulnar-Mammary Syndrome |
|
Hypoplastic scapulae, Short 5th toe, Absent radius, Anal atresia, Short 5th finger, Hypodontia, P... |
OMIM:181450 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Mandibular prognathia, Sandal gap, Hypoplasia of the zygomatic bone, Large earlobe, Malar promine... |
ORPHA:2715 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Nausea, Abdominal distentio... |
ORPHA:103907 |
Athyreosis |
|
Macroglossia, Constipation, Feeding difficulties, Abdominal distention |
ORPHA:95713 |
Larsen Syndrome |
|
Hypoplastic cervical vertebrae, Hearing impairment, Elbow dislocation, Talipes equinovarus, Beaki... |
OMIM:150250 |
Trichohepatoneurodevelopmental Syndrome |
|
Low-set ears, Recurrent otitis media, Overlapping toe, Fibular bowing, Talipes equinovarus, Bilat... |
OMIM:618268 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... |
ORPHA:99050 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Epiphyseal stippling, Neonatal death |
OMIM:614870 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Low-set ears, Hearing impairment, Micrognathia, Hypoplasia of the corpus callosum, Short foot, Pa... |
OMIM:618454 |
Craniosynostosis With Fibular Aplasia |
|
Craniosynostosis, Fibular aplasia, Single transverse palmar crease |
OMIM:218550 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope... |
ORPHA:352665 |
Robinow Syndrome |
|
Low-set ears, Tooth malposition, Ankyloglossia, Marked delay in eruption of permanent teeth, Micr... |
ORPHA:97360 |
Mucopolysaccharidosis-Plus Syndrome |
|
Wide nasal bridge, Respiratory distress, Cerebral calcification, Acetabular dysplasia, Death in c... |
OMIM:617303 |
Achondrogenesis Type 2 |
|
Pulmonary hypoplasia |
ORPHA:93296 |
Limb Body Wall Complex |
|
Progressive congenital scoliosis, Cutaneous finger syndactyly, Aplasia/hypoplasia involving bones... |
ORPHA:2369 |
Moebius Syndrome |
|
Finger syndactyly, Hearing impairment, Micrognathia, Open mouth, Talipes equinovarus, Aplasia/Hyp... |
ORPHA:570 |
Diarrhea 12, With Microvillus Atrophy |
|
Dependency on parenteral nutrition, Osteopenia, Vomiting, Secretory diarrhea, Villous atrophy, Mi... |
OMIM:619445 |
Kaufman Oculocerebrofacial Syndrome |
|
Low-set ears, Carious teeth, Micrognathia, Narrow mouth, Hypoplasia of the corpus callosum, Narro... |
OMIM:244450 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Delayed cranial suture closure, Prominent scalp veins, Cutaneous finger syndactyly, Micrognathia,... |
OMIM:151050 |
Acheiropodia |
|
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... |
ORPHA:931 |
Fanconi Anemia, Complementation Group P |
|
Absent thumb, Short thumb, Hearing impairment, Micrognathia, Microcephaly, Hypoplasia of the radius |
OMIM:613951 |
Autosomal Recessive Omodysplasia |
|
Rhizomelia, Micromelia, Micrognathia, Abnormal femur morphology, Abnormal morphology of the radiu... |
ORPHA:93329 |
Fanconi Anemia, Complementation Group F |
|
Absent thumb, Short thumb, Conductive hearing impairment, Microcephaly, 2-3 finger syndactyly, Pa... |
OMIM:603467 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Low-set ears, Congenital shortened small intestine, Micrognathia, Neonatal death, Pulmonary lymph... |
OMIM:265380 |
Ivic Syndrome |
|
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Hearing impairment, Preaxial hand pol... |
ORPHA:2307 |
Osteogenesis Imperfecta, Type Xxiii |
|
Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broad femoral head, Seve... |
OMIM:620639 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Oxygen desaturati... |
ORPHA:60025 |
Elsahy-Waters Syndrome |
|
Low-set ears, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, H... |
OMIM:211380 |
Diamond-Blackfan Anemia 1 |
|
Delayed cranial suture closure, Micrognathia, Short neck, Small thenar eminence, High palate, Hyp... |
OMIM:105650 |
Caudal Duplication |
|
Intestinal duplication, Myelomeningocele, Bifid sacrum, Vertebral segmentation defect, Spinal cor... |
ORPHA:1756 |
Pfeiffer Syndrome |
|
Wide nasal bridge, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Hypoplasia of the ... |
ORPHA:710 |
X-Linked Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Hypoplasia of the zygomatic bone, Low-set, posteriorly rotated ear... |
ORPHA:1131 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs |
ORPHA:1548 |
Mannosidosis, Alpha B, Lysosomal |
|
Thoracolumbar kyphosis, Cerebral cortical atrophy, Spinocerebellar tract disease in lower limbs, ... |
OMIM:248500 |
Lead Poisoning |
|
Vomiting, Abdominal distention, Delayed eruption of teeth, Cranial hyperostosis, Nausea, Attentio... |
ORPHA:330015 |
Terminal Osseous Dysplasia |
|
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Cam... |
OMIM:300244 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Pulmonary hypoplasia, Stillbirth, Abnormal lung lobation |
OMIM:615415 |
Fontaine Progeroid Syndrome |
|
Low-set ears, Micrognathia, Narrow mouth, Protruding tongue, Hypoplasia of the corpus callosum, R... |
OMIM:612289 |
Baller-Gerold Syndrome |
|
Finger aplasia, Aplasia/Hypoplasia of the radius, Conductive hearing impairment, Anteriorly place... |
ORPHA:1225 |
Mowat-Wilson Syndrome |
|
Tooth malposition, Recurrent otitis media, Hypoplasia of the corpus callosum, Agenesis of corpus ... |
OMIM:235730 |
Sarcoidosis, Susceptibility To, 2 |
|
Emphysema, Hypoxemia, Pleural effusion, Pneumothorax, Dyspnea, Abnormal pulmonary interstitial mo... |
OMIM:612387 |
Fanconi Anemia, Complementation Group O |
|
Absent thumb, Short thumb, Death in infancy, Neonatal death, Hypoplasia of the radius, Rectal atr... |
OMIM:613390 |
Developmental And Epileptic Encephalopathy 89 |
|
Low-set ears, Wide nasal bridge, Microretrognathia, Cerebral atrophy, Long philtrum, Asymmetry of... |
OMIM:619124 |
Arterial Tortuosity Syndrome |
|
Aortic root aneurysm, Generalized arterial tortuosity, Micrognathia, Arachnodactyly, High palate,... |
OMIM:208050 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Toe syndactyly, 2-3 toe syndactyly, Limb undergrowth, Adducted thumb, Clinodactyly of the 5th fin... |
OMIM:616809 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Cerebral atrophy, Respiratory distress, Talipes equinovarus, Short femur |
OMIM:620306 |
Otosclerosis 11 |
|
Absence of acoustic reflex, Otosclerosis, Conductive hearing impairment, Sensorineural hearing im... |
OMIM:620576 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Slender finger, Diarrhea, Vomiting, Cerebral atrophy, Respiratory distress, Microcephaly, Pes pla... |
OMIM:250940 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Absent thumb, Bowed forearm bones, Hydrocephalus, Vascular dilatation, Absent radius, Forearm und... |
OMIM:602200 |
Weill-Marchesani Syndrome 1 |
|
Tooth malposition, Hypoplasia of the maxilla, Broad phalanges of the hand, Spinal canal stenosis,... |
OMIM:277600 |
Cog1-Cdg |
|
Temporal cortical atrophy, Micrognathia, Narrow mouth, Talipes equinovarus, Short neck, High pala... |
ORPHA:263508 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Avian Influenza |
|
Pneumonia, Respiratory distress, Pleural effusion, Tachypnea, Pneumothorax, Dyspnea, Hypoxemia, M... |
ORPHA:454836 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Kabuki Syndrome |
|
Small hand, Sensorineural hearing impairment, Vertebral clefting, High palate, Hip dislocation, M... |
ORPHA:2322 |
Usher Syndrome Type 1 |
|
Cerebral cortical atrophy, Vestibular hypofunction, Abnormal dental enamel morphology, Sensorineu... |
ORPHA:231169 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Congenital hip dislocation, Osteopenia, Respiratory distress, Arachnodactyly, Multiple prenatal f... |
OMIM:271225 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis |
OMIM:250800 |
Tonne-Kalscheuer Syndrome |
|
Pulmonary hypoplasia |
OMIM:300978 |
Wiedemann-Rautenstrauch Syndrome |
|
Low-set ears, Natal tooth, Recurrent otitis media, Prominent scalp veins, Narrow mouth, Reduced s... |
ORPHA:3455 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death |
OMIM:301021 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Atelectasis, Neonatal death |
OMIM:300219 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Cyanosis, Agenesis of corpus callosum, Syringomyelia, Hydr... |
OMIM:207950 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Tooth malposition, Hypoplastic anterior commissure, Secondary microcephaly, Long hallux, Recurren... |
ORPHA:261552 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Poor wound healing, Talipes equinovarus, Pes planus, Fragile skin, Patellar dislocation, Thoracic... |
ORPHA:1900 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:3346 |
Larsen Syndrome |
|
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m... |
ORPHA:503 |
Wolf-Hirschhorn Syndrome |
|
Abnormal vertebral morphology, Hearing impairment, Micrognathia, Agenesis of corpus callosum, Ara... |
ORPHA:280 |
Dental Anomalies And Short Stature |
|
Platyspondyly, Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth, Herniation ... |
OMIM:601216 |
Fanconi Anemia, Complementation Group B |
|
Abnormal vertebral morphology, Bilateral radial aplasia, Low-set ears, Absent thumb, Hypoplasia o... |
OMIM:300514 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Thin ribs, Low-set ears, Wide nasal bridge, Coronal craniosynostosis, Retrognathia, Respiratory d... |
ORPHA:83617 |
Branchiootic Syndrome |
|
Abnormality of the outer ear, Lip pit, Hearing impairment, Conductive hearing impairment, Atresia... |
ORPHA:52429 |
Pericardial And Diaphragmatic Defect |
|
Pulmonary sequestration, Hypoxemia, Pulmonary hypoplasia |
ORPHA:2847 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Low-set ears, Bifid uvula, Retrognathia, Camptodactyly of finger, Micrognathia, Abnormal antiheli... |
ORPHA:3047 |
Pulmonary Arteriovenous Malformation |
|
Pulmonary hemorrhage, Hemothorax, Cyanosis, Telangiectasia, Dyspnea, Hypoxemia, Pleural empyema |
ORPHA:2038 |
Osteogenesis Imperfecta, Type Xxi |
|
Platyspondyly, Bowing of the arm, Joint hypermobility, Wormian bones, Pes valgus, Pes planus, Cox... |
OMIM:619131 |
Van Esch-O'Driscoll Syndrome |
|
Motor stereotypy, Short nose, Downturned corners of mouth, Cerebral atrophy, Protruding ear, Atte... |
OMIM:301030 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis |
ORPHA:99825 |
Joubert Syndrome With Ocular Defect |
|
Abnormal vertebral morphology, Cerebellar vermis hypoplasia, Abnormal pattern of respiration, Pol... |
ORPHA:220493 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Dyspnea, Interlobular septal thickening, Exertional dyspnea, Intraalveolar phospholipid accumulation |
OMIM:614370 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Pulmonary hypoplasia, Abnormal lung lobation |
OMIM:263210 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Acromesomelia, Short thumb, Brachydactyly, Cuboidal metacarpal, Tarsal synostosis, Short metacarp... |
ORPHA:968 |
Secondary Short Bowel Syndrome |
|
Diarrhea, Vomiting, Volvulus, Atherosclerosis, Malnutrition, Villous atrophy, Abnormal small inte... |
ORPHA:95427 |
Chitayat Syndrome |
|
Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections |
OMIM:617180 |
Jeune Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Micromelia, Brachydactyly, Postaxial hand polydactyly... |
ORPHA:474 |
Barber-Say Syndrome |
|
Low-set ears, Velopharyngeal insufficiency, Hearing impairment, Micrognathia, Talipes equinovarus... |
OMIM:209885 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... |
OMIM:113310 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure |
ORPHA:83451 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Pulmonary hypoplasia |
ORPHA:1486 |
Branchiootorenal Syndrome 1 |
|
Dilatated internal auditory canal, Branchial cyst, Sensorineural hearing impairment, Enlarged ves... |
OMIM:113650 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Abnormality of the dentition, Wide nasal bridge, Umbilical hernia, Femoral bowing, Mic... |
OMIM:617952 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Pulmonary artery atresia, Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:618316 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress |
ORPHA:26792 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, De... |
ORPHA:860 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short distal phalanx of finger, Cerebral hypoplasia, Abnormal cartilage matrix, Hypoplasia of the... |
ORPHA:86822 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ... |
OMIM:300863 |
Cowden Syndrome 5 |
|
Colonic diverticula, Hypoplasia of the maxilla, Hearing impairment, Subcutaneous lipoma, Furrowed... |
OMIM:615108 |
Vater/Vacterl Association |
|
Abnormal vertebral morphology, Occipital encephalocele, Short thumb, Abnormal rib morphology, Pre... |
OMIM:192350 |
Aspartylglucosaminuria |
|
Abnormal vertebral morphology, Carious teeth, Pes planus, Beaking of vertebral bodies, Anterior b... |
ORPHA:93 |
Holt-Oram Syndrome |
|
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Kyphosis, Joint s... |
ORPHA:392 |
Atelis Syndrome 2 |
|
Low-set ears, Gastroesophageal reflux, Clinodactyly, Downturned corners of mouth, Diastema, Thick... |
OMIM:620185 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Low-set ears, Joint contracture of the hand, Carpal synostosis, Humeroradial synostosis, Broad fo... |
OMIM:201750 |
Small Bowel Atresia |
|
Vomiting, Abnormal vascular morphology, Intestinal malrotation, Jejunal atresia, Intestinal hypop... |
ORPHA:1201 |
Greenberg Dysplasia |
|
Rhizomelia, Micrognathia, Brachydactyly, Micromelia |
ORPHA:1426 |
Williams Syndrome |
|
Synostosis of joints, Carious teeth, Open bite, Genu valgum, Micrognathia, Death in early adultho... |
ORPHA:904 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Abnormality of the outer ear, Sensorineural hearing impairment, Pes planus, Short palm, Dysphagia... |
ORPHA:466943 |
Ctcf-Related Neurodevelopmental Disorder |
|
Narrow mouth, Joint contracture of the 5th finger, Patent ductus arteriosus, Short nose, Osteopen... |
ORPHA:363611 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Pulmonary artery hypoplasia, Anomalous origin of left coronary artery from the pulmon... |
ORPHA:2326 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Bifid uvula, Absent thumb, Submucous cleft hard palate, Microcephaly, Hyperactivity, Feeding diff... |
OMIM:619239 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Lumbar hyperlordosis, Triceps weakness, Microcephaly, Calf muscle hypertrop... |
ORPHA:86812 |
Digeorge Syndrome |
|
Low-set ears, Recurrent otitis media, Micrognathia, Intervertebral disk degeneration, Patellar di... |
OMIM:188400 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Bronchogenic cyst, Respiratory distress, Pneumothorax, Partial anoma... |
ORPHA:185 |
Episodic Ataxia Type 1 |
|
Hand clenching, Respiratory distress, Vertigo, Kyphoscoliosis, Calf muscle hypertrophy, Nausea, S... |
ORPHA:37612 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Low-set ears, Abdominal distention, Secretory diarrhea, Intestinal malrotation, Macrocephaly, Ana... |
OMIM:270420 |
Image Syndrome |
|
Micromelia, Metaphyseal dysplasia |
ORPHA:85173 |
Coxoauricular Syndrome |
|
Abnormal femur morphology, Micromelia |
ORPHA:1508 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Platyspondyly, Lower limb undergrowth, Kyphoscoliosis, Lumbar scoliosis, Irregular vertebral endp... |
OMIM:612847 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy, Cyanosis, Recurrent ... |
OMIM:618426 |
Idiopathic Hypereosinophilic Syndrome |
|
Angioedema, Swelling of proximal interphalangeal joints, Cutis marmorata, Feeding difficulties in... |
ORPHA:3260 |
Pachyonychia Congenita |
|
Natal tooth, Palmoplantar keratoderma, Palmoplantar blistering, Oral leukoplakia, Respiratory dis... |
ORPHA:2309 |
Thanatophoric Dysplasia |
|
Pulmonary hypoplasia |
ORPHA:2655 |
Paget Disease Of Bone 2, Early-Onset |
|
Bilateral conductive hearing impairment, Fractures of the long bones, Sandwich appearance of vert... |
OMIM:602080 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Short finger, Death in infancy, Neonatal death |
OMIM:242500 |
Cowden Syndrome 6 |
|
Colonic diverticula, Hypoplasia of the maxilla, Hearing impairment, Subcutaneous lipoma, Furrowed... |
OMIM:615109 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
3Mc Syndrome 2 |
|
Abnormal vertebral morphology, Wide nasal bridge, Caudal appendage, Downturned corners of mouth, ... |
OMIM:265050 |
Meacham Syndrome |
|
Congenital alveolar dysplasia, Scimitar anomaly, Death in childhood, Neonatal death, Death in inf... |
OMIM:608978 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Carious teeth, Aortic root aneurysm, Cutis marmorata, Chronic constipation, Arachnodactyly, Pes p... |
OMIM:617602 |
Cloacal Exstrophy |
|
Intestinal duplication, Abnormal tibia morphology, Intestinal malrotation, Myelomeningocele, Tali... |
ORPHA:93929 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Broad thumb, Intestinal malrotation, Micrognathia, Abnormal aortic morphology, Bilateral cleft pa... |
ORPHA:2001 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic root aneurysm, Cutis marmorata, Abdominal aortic aneurysm, Arachnodactyly, Pes planus, Car... |
ORPHA:91387 |
1P36 Deletion Syndrome |
|
Delayed cranial suture closure, Narrow mouth, Agenesis of corpus callosum, Abnormal intestine mor... |
ORPHA:1606 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... |
OMIM:184253 |
Maternal Phenylketonuria |
|
Hypoplastic helices, Wide nasal bridge, Clinodactyly, Long philtrum, Tetralogy of Fallot, Microgn... |
ORPHA:2209 |
Opitz Gbbb Syndrome |
|
Low-set ears, Natal tooth, Hearing impairment, Aortic root aneurysm, Ankyloglossia, Micrognathia,... |
ORPHA:2745 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Ge... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Ge... |
ORPHA:99228 |
Monosomy X |
|
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Ge... |
ORPHA:99226 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Short ribs, Limb undergrowth, Brachydactyly, Metaphyseal wi... |
OMIM:618961 |
Turner Syndrome |
|
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Ge... |
ORPHA:881 |
Craniolenticulosutural Dysplasia |
|
Hypoplasia of the maxilla, Carious teeth, High iliac wing, Delayed eruption of teeth, Long philtr... |
ORPHA:50814 |
Igg4-Related Aortitis |
|
Abnormal aortic arch morphology, Aortic dissection, Intestinal obstruction, Abnormal common carot... |
ORPHA:449400 |
Intellectual Developmental Disorder, X-Linked 112 |
|
Gastroesophageal reflux, Cupped ear, Volvulus, Right aortic arch, Kyphoscoliosis, Madelung deform... |
OMIM:301111 |
Absence Of The Pulmonary Artery |
|
Recurrent pneumonia, Cyanosis, Pulmonary edema, Hypocapnia, Orthopnea, Dyspnea, Recurrent respira... |
ORPHA:980 |
Tolchin-Le Caignec Syndrome |
|
Low-set ears, Abnormal vestibular function, Wide nasal bridge, Umbilical hernia, Micrognathia, Na... |
OMIM:618971 |
Smith-Lemli-Opitz Syndrome |
|
Postaxial foot polydactyly, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Talipes... |
ORPHA:818 |
Orofacial Cleft 13 |
|
Retrognathia, Micrognathia, Cleft soft palate, Malar flattening, Oligodontia |
OMIM:613857 |
Ramos-Arroyo Syndrome |
|
Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Respiratory distress, Narrow mouth, Self... |
ORPHA:1051 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Neoplasm of the lung |
ORPHA:142 |
Fraser Syndrome 2 |
|
Low-set ears, Atresia of the external auditory canal, Intestinal malrotation, Narrow mouth, Short... |
OMIM:617666 |
Laurin-Sandrow Syndrome |
|
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... |
OMIM:135750 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Finger aplasia, Aplasia of the ulna, Neonatal death |
OMIM:276822 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteoporosis, Osteopenia, Abdominal distention |
ORPHA:369 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Floating-Harbor Syndrome |
|
Low-set ears, Broad thumb, Carious teeth, Recurrent otitis media, Short neck, Broad fingertip, Ce... |
OMIM:136140 |
Loeys-Dietz Syndrome 2 |
|
Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Micrognathi... |
OMIM:610168 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Neonatal death, Brachydact... |
OMIM:187601 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Bronchiectasis |
OMIM:606763 |
Fanconi Anemia, Complementation Group L |
|
Low-set ears, Wide nasal bridge, Absent thumb, Hypoplastic sacrum, Anotia, Feeding difficulties, ... |
OMIM:614083 |
Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Platyspondyly, Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpa... |
OMIM:619638 |
Volvulus Of Midgut |
|
Volvulus, Intestinal malrotation, Neonatal intestinal obstruction, Constipation, Abdominal disten... |
OMIM:193250 |
Congenital Disorder Of Deglycosylation 1 |
|
Low-set ears, Small hand, Dilation of Virchow-Robin spaces, Restlessness, Oral-pharyngeal dysphag... |
OMIM:615273 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:314390 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Nasogastric tube feeding in infancy, Macroglossia, High palate, Poor suck |
ORPHA:254864 |
Dyskeratosis Congenita |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Periodontitis, Palmoplant... |
ORPHA:1775 |
Loeys-Dietz Syndrome 4 |
|
Aortic root aneurysm, Arachnodactyly, Talipes equinovarus, Eosinophilic infiltration of the esoph... |
OMIM:614816 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Gastroesophageal reflux, Vomiting, Recurrent otitis media, Thin upper lip vermilion, Exertional d... |
OMIM:620233 |
Microlissencephaly-Micromelia Syndrome |
|
Micromelia, Long philtrum, Respiratory distress, Secondary microcephaly, 11 pairs of ribs, Bilate... |
ORPHA:50810 |
Primary Effusion Lymphoma |
|
Dyspnea, Abdominal pain, Abdominal distention |
ORPHA:48686 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Death in childhood, Death in infancy, Neonatal death |
OMIM:620265 |
Tularemia |
|
Respiratory distress, Otitis media, Oral ulcer |
ORPHA:3392 |
Kabuki Syndrome 1 |
|
Abnormal vertebral morphology, Low-set ears, Anoperineal fistula, Hearing impairment, Recurrent o... |
OMIM:147920 |
Mycophenolate Mofetil Embryopathy |
|
Tessier cleft, Bifid thoracic vertebrae, Hearing impairment, Atresia of the external auditory can... |
ORPHA:268249 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Hand clenching, Dysphagia |
ORPHA:240103 |
Treacher Collins Syndrome 3 |
|
Conductive hearing impairment, Hypoplasia of the zygomatic bone, Micrognathia, Malar flattening, ... |
OMIM:248390 |
Pseudotrisomy 13 Syndrome |
|
Low-set ears, Postaxial foot polydactyly, Cleft upper lip, Polymicrogyria, 11 pairs of ribs, Medi... |
OMIM:264480 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Abnormal pelvis bone ossification, Micrognathia, Agenesis of corpus callosum, Dandy-Walker malfor... |
ORPHA:93271 |
Niemann-Pick Disease, Type A |
|
Vomiting, Cherry red spot of the macula, Foam cells with lamellar inclusion bodies, Feeding diffi... |
OMIM:257200 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Low-set ears, Broad thumb, Overlapping toe, Micrognathia, Sensorineural hearing impairment, Talip... |
OMIM:612474 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Cowden Syndrome 1 |
|
Colonic diverticula, Hypoplasia of the maxilla, Hearing impairment, Subcutaneous lipoma, Hemimega... |
OMIM:158350 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Erythema, Hypoplastic scapulae, Finger swelling, Premature graying of hair, Recurrent otitis medi... |
OMIM:256040 |
Lathosterolosis |
|
Hepatic failure, Toe syndactyly, Postaxial foot polydactyly, Downturned corners of mouth, Long ph... |
ORPHA:46059 |
Celiac Disease, Susceptibility To, 1 |
|
Diarrhea, Rickets, Vomiting, Cerebral calcification, Recurrent aphthous stomatitis, Abdominal pai... |
OMIM:212750 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Open mouth, Prominent metopic ridge, Hypoplasia of the corpus callosum, Agenesis of... |
ORPHA:457284 |
Congenital Heart Block |
|
Pleural effusion, Cyanosis |
ORPHA:60041 |
3-Methylglutaconic Aciduria, Type Viib |
|
Brachioradialis areflexia, Rhizomelia, Cerebral atrophy, Respiratory distress, Micrognathia, Micr... |
OMIM:616271 |
Ulnar-Mammary Syndrome |
|
Short distal phalanx of finger, Camptodactyly of finger, Absent hand, Abnormality of the wrist, P... |
ORPHA:3138 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Death in infancy, Neonatal death |
OMIM:617184 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Open mouth, Narrow mouth, Pes planus, Thick corpus callosum, Patent ductus arteriosus, High, narr... |
OMIM:300967 |
Farber Disease |
|
Hepatic failure, Short toe, Short finger, Respiratory distress, Abnormal foot morphology, Abnorma... |
ORPHA:333 |
Congenital Laryngeal Web |
|
Respiratory distress |
ORPHA:2374 |
Acromelic Frontonasal Dysplasia |
|
Aplasia/Hypoplasia of the tibia, Hypoplasia of the olfactory bulb, Patellar hypoplasia, Preaxial ... |
ORPHA:1827 |
Buerger Disease |
|
Livedo reticularis, Acrocyanosis |
ORPHA:36258 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Low-set ears, Hand clenching, Overlapping toe, Narrow mouth, Reduced subcutaneous adipose tissue,... |
OMIM:617402 |
Neuroocular Syndrome 1 |
|
Low-set ears, Ankyloglossia, Torus palatinus, Pes planus, Hyperextensibility of the finger joints... |
OMIM:619539 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood |
OMIM:615597 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Bilateral lung agenesis, Neonatal de... |
OMIM:601186 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmonary airway malformation, Pul... |
OMIM:611812 |
Cornelia De Lange Syndrome |
|
Small hand, Toe syndactyly, Atresia of the external auditory canal, Elbow dislocation, Cutis marm... |
ORPHA:199 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Serkal Syndrome |
|
Pulmonary hypoplasia |
ORPHA:139466 |
Limb-Mammary Syndrome |
|
Bifid uvula, Toe syndactyly, Cleft lip, Oligodactyly, Malar flattening, Submucous cleft soft pala... |
ORPHA:69085 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation |
OMIM:264270 |
Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Gastroesophageal reflux, Vomiting, He... |
ORPHA:206436 |
Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Limb undergrowth, Abnormal metaphysis morphology |
ORPHA:177 |
Perlman Syndrome |
|
Low-set ears, Distal ileal atresia, Interrupted aortic arch, Wide nasal bridge, Volvulus, Everted... |
OMIM:267000 |
Neurofaciodigitorenal Syndrome |
|
Abnormal oral mucosa morphology, Low-set ears, Hypoplasia of the premaxilla, Atresia of the exter... |
ORPHA:2673 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal death |
OMIM:300076 |
Hypermobile Ehlers-Danlos Syndrome |
|
Aortic root aneurysm, Elbow dislocation, Limitation of joint mobility, Nausea and vomiting, Arach... |
ORPHA:285 |
Peripheral Primitive Neuroectodermal Tumor |
|
Abdominal distention, Vertigo, Abnormal thoracic spine morphology, Nausea and vomiting, Back pain... |
ORPHA:370348 |
Classical Ehlers-Danlos Syndrome |
|
Aortic root aneurysm, Poor wound healing, Chronic constipation, Talipes equinovarus, Pes planus, ... |
ORPHA:287 |
Shwachman-Diamond Syndrome 1 |
|
Proximal femoral epiphysiolysis, Respiratory distress, Metaphyseal sclerosis, Proximal femoral me... |
OMIM:260400 |
Congenital Sucrase-Isomaltase Deficiency |
|
Vomiting, Diarrhea, Abdominal colic, Gastroesophageal reflux, Nausea, Constipation, Abdominal dis... |
ORPHA:35122 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Wide nasal bridge, Toe syndactyly, Thin upper lip vermilion, Syringomyelia, Pulmonary artery sten... |
ORPHA:140952 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
OMIM:267430 |
Otosclerosis 1 |
|
Otosclerosis, Conductive hearing impairment |
OMIM:166800 |
Bor Syndrome |
|
Atresia of the external auditory canal, Hearing impairment, Branchial cyst, Retrognathia, Stenosi... |
ORPHA:107 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti... |
OMIM:142623 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Diarrhea, Vomiting, Respiratory distress, Feeding difficulties, Stroke, Microcephaly, Reye syndro... |
ORPHA:927 |
Hypoglossia-Hypodactyly Syndrome |
|
Wide nasal bridge, Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndacty... |
ORPHA:989 |
Congenital Fibrinogen Deficiency |
|
Gingival bleeding, Bruising susceptibility, Volvulus, Subcutaneous hemorrhage, Cyanosis, Abdomina... |
ORPHA:335 |
Meckel Syndrome, Type 1 |
|
Low-set ears, Postaxial foot polydactyly, Natal tooth, Clinodactyly, Occipital encephalocele, Lar... |
OMIM:249000 |
Restrictive Dermopathy |
|
Thin ribs, Low-set ears, Natal tooth, Structural foot deformity, Large placenta, Narrow mouth, Mi... |
ORPHA:1662 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Hepatic failure, Rickets, Bowing of the long bones, Abdominal distention |
ORPHA:2088 |
Pseudohypoparathyroidism Type 1A |
|
Basal ganglia calcification, Cerebral calcification, Sensorineural hearing impairment, Polyphagia... |
ORPHA:79443 |
Hardikar Syndrome |
|
Cleft soft palate, Bilateral cleft palate, Thoracolumbar scoliosis, Celiac disease, Jaundice, Abd... |
OMIM:301068 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Hypoplasia of the maxilla, Hearing impairment, Micrognathia, Death in childhood, Enterocolitis |
OMIM:301108 |
Birk-Barel Syndrome |
|
Bifid uvula, Microretrognathia, Tented upper lip vermilion, Reduced subcutaneous adipose tissue, ... |
OMIM:612292 |
Sirenomelia |
|
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Sirenomelia, Tracheoesophageal fistula, ... |
ORPHA:3169 |
Hypertrichosis Cubiti |
|
Rhizomelia, Micromelia |
ORPHA:2220 |
Distal Deletion 17Q |
|
Small hand, Deviation of finger, Micromelia, Abnormal thumb morphology, Aplasia/Hypoplasia of the... |
ORPHA:1597 |
Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae, Death in infancy |
OMIM:602473 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Low-set ears, Semilobar holoprosencephaly, Conductive hearing impairment, Hypoplasia of the zygom... |
OMIM:618500 |
Nephronophthisis 2 |
|
Pulmonary hypoplasia |
OMIM:602088 |
Inflammatory Pseudotumor Of The Liver |
|
Abdominal pain, Vomiting, Nausea, Abdominal distention |
ORPHA:90003 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Wide nasal bridge, Anal stenosis, Hypoplasia of the maxilla, Hearing impairment, Umbilical hernia... |
OMIM:601499 |
Arthrogryposis Multiplex Congenita 6 |
|
Adducted thumb, Death in childhood, Death in infancy, Neonatal death |
OMIM:619334 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress |
OMIM:613561 |
Renal Hypodysplasia/Aplasia 1 |
|
Pulmonary hypoplasia |
OMIM:191830 |
Angelman Syndrome |
|
Cerebral cortical atrophy, Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth,... |
OMIM:105830 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Nonopposable triphalangeal thumb, Hypoplasia of the radius, Diastema |
OMIM:179250 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Short distal phalanx of finger, Hypoplasia of the zygomatic bone, Joint stiffness, Genu valgum, T... |
ORPHA:1295 |
Pallister-Killian Syndrome |
|
Low-set ears, Small hand, Postaxial foot polydactyly, Hearing impairment, Delayed cranial suture ... |
OMIM:601803 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Otosclerosis, Hearing impairment, Abnormal earlobe morphology, Umbilical h... |
ORPHA:116 |
Singleton-Merten Syndrome 1 |
|
Shallow acetabular fossae, Carious teeth, Hypoplastic distal radial epiphyses, Genu valgum, Talip... |
OMIM:182250 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Noonan Syndrome |
|
Osteopenia, Bruising susceptibility, Thick lower lip vermilion, Low-set, posteriorly rotated ears... |
ORPHA:648 |
Cat Eye Syndrome |
|
Low-set ears, Anal stenosis, Total anomalous pulmonary venous return, Meckel diverticulum, Volvul... |
OMIM:115470 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Wide nasal bridge, Erythema, Hearing impairment, Abnormal earlobe morphology, Retrognathia, Respi... |
ORPHA:2556 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
High, narrow palate, Ulnar deviation of finger, Hypoplasia of the maxilla, Mandibular prognathia,... |
ORPHA:1101 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Femoral bowing, Increased susceptibility to fractures, Sensorineural hearing impairme... |
OMIM:615066 |
Mosaic Variegated Aneuploidy Syndrome |
|
Hearing impairment, Aplasia/Hypoplasia of the corpus callosum, Low-set, posteriorly rotated ears,... |
ORPHA:1052 |
Wolman Disease |
|
Hepatic failure, Malnutrition, Nausea and vomiting, Abdominal distention, Steatorrhea, Bone-marro... |
ORPHA:75233 |
Fanconi Anemia, Complementation Group W |
|
Absent thumb, Abnormal periventricular white matter morphology, Microcephaly, Hypoplasia of the r... |
OMIM:617784 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Knee flexion contracture, Agenesis of corpus callosum, Sensorineural hearin... |
OMIM:618733 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology |
ORPHA:1861 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Low-set ears, Broad thumb, Hearing impairment, Neonatal death, Broad first metatarsal, Everted lo... |
OMIM:619534 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Respiratory infections in early life, Miscarriage, Pulmonary hypoplasia |
ORPHA:96179 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal stippling, Brachydactyly... |
OMIM:609616 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Paroxysmal dyspnea |
ORPHA:444013 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Neonatal death |
OMIM:619602 |
1Q41Q42 Microdeletion Syndrome |
|
Pulmonary hypoplasia |
ORPHA:250999 |
Multiple Pterygium Syndrome, X-Linked |
|
Pulmonary hypoplasia |
OMIM:312150 |
Isolated Right Ventricular Hypoplasia |
|
Dyspnea, Hypoxemia, Cyanosis |
ORPHA:439 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Self-injurious behavior, Polydipsia, Central hypoventilation, Cyanosis, Hypoventilation, Sensorin... |
ORPHA:293987 |
Gaucher Disease, Type Ii |
|
Gastroesophageal reflux, Cerebral atrophy, Apnea, Death in infancy, Trismus, Protuberant abdomen,... |
OMIM:230900 |
Sepsis In Premature Infants |
|
Diarrhea, Vomiting, Decreased liver function, Functional abnormality of the gastrointestinal trac... |
ORPHA:90051 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Vertigo, Anorexia, Recurrent infection of the gastrointestinal tract, Nausea, Abdominal distentio... |
ORPHA:51890 |
Axenfeld-Rieger Syndrome |
|
Wide nasal bridge, Anal stenosis, Hypoplasia of the maxilla, Hearing impairment, Microdontia, Hyp... |
ORPHA:782 |
Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Tachypnea, Hypoxemia, Anomalous pulmonary venous return |
ORPHA:555874 |
Spondyloenchondrodysplasia |
|
Platyspondyly, Hypoplastic ilia, Short distal phalanx of finger, Vasculitis, Dental malocclusion,... |
ORPHA:1855 |
Congenital Tufting Enteropathy |
|
Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnor... |
ORPHA:92050 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Abnormal corpus callosum morphology, Long philtrum, Polymicrogyria, Wide mouth, Open mouth, Lacto... |
ORPHA:457485 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Secondary microcephaly, Osteomyelitis, Death in childhood, Death in infancy, Dysplastic corpus ca... |
OMIM:619423 |
Loeys-Dietz Syndrome 1 |
|
Low-set ears, Aortic root aneurysm, Micrognathia, Arachnodactyly, Talipes equinovarus, Eosinophil... |
OMIM:609192 |
Alternating Hemiplegia Of Childhood |
|
Skewfoot, Diarrhea, Abdominal distention, Downturned corners of mouth, Oral-pharyngeal dysphagia,... |
ORPHA:2131 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Apnea, Cyanosis |
OMIM:261680 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Progressive hearing impairment, Respiratory distress, Abdominal pain, Dysphagia, Feeding difficul... |
OMIM:620166 |
Fraser Syndrome 1 |
|
Low-set ears, Atresia of the external auditory canal, Aplasia/Hypoplasia of the sternum, Abnormal... |
OMIM:219000 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Toe syndactyly, Carious teeth, Xerostomia, Absence of Stensen duct, Ectodermal dysplasia, Anal at... |
OMIM:129900 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Rhizomelia, Broad thumb, Short finger, Brachydactyly, Metaphyseal widening, Mesomelia |
OMIM:612813 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Neuronal loss in basal ganglia, Focal cortical dysplasia, Cerebral atrophy, Respiratory distress,... |
OMIM:604377 |
Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Vomiting, Decreased intestinal transit time, Intestinal mal... |
OMIM:615237 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:1046 |
Otosclerosis 4 |
|
Mixed hearing impairment, Otosclerosis |
OMIM:611571 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Metaphyseal cupping, Flared metaphysis, Genu varum, Bowing of the legs |
OMIM:619073 |
Neurofibromatosis, Type I |
|
Tibial pseudarthrosis, Genu valgum, Renal artery stenosis, Hydrocephalus, Spina bifida, Macroceph... |
OMIM:162200 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Vasculitis, Hearing impairment, Respiratory distress, Dilatation of the cerebral artery, Transien... |
ORPHA:365 |
Tetanus |
|
Respiratory distress, Stiff neck, Tachypnea, Trismus, Abdominal pain, Dysphagia, Bowel incontinence |
ORPHA:3299 |
Ciliary Dyskinesia, Primary, 40 |
|
Congenitally corrected transposition of the great arteries, Right aortic arch, Chronic sinusitis,... |
OMIM:618300 |
Radial Ray Hypoplasia With Choanal Atresia |
|
Hypoplasia of the radius, Distally placed thumb, Short thumb, Small thenar eminence |
OMIM:179270 |
Hartsfield Syndrome |
|
Low-set ears, Hypoplasia of the frontal bone, Alobar holoprosencephaly, Semilobar holoprosencepha... |
OMIM:615465 |
Severe Congenital Nemaline Myopathy |
|
Pulmonary hypoplasia |
ORPHA:171430 |
Fetal Akinesia Deformation Sequence |
|
Pulmonary hypoplasia |
ORPHA:994 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of the premaxilla, Aplasia/Hypoplasia of the corpus callosum, Intestinal malrotation, ... |
ORPHA:2166 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Low-set ears, Semilobar holoprosencephaly, Hypoplasia of the zygomatic bone, Hypoxemia, Agenesis ... |
ORPHA:556955 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Pulmonary hypoplasia |
OMIM:616866 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Progeroid facial appearance, Atelectas... |
OMIM:613177 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Tachypnea, Death in infancy |
OMIM:614299 |
Truncus Arteriosus |
|
Pulmonary artery hypoplasia, Abnormal lung lobation, Cyanosis, Anomalous origin of one pulmonary ... |
ORPHA:3384 |
Craniosynostosis, Herrmann-Opitz Type |
|
Micromelia, Finger syndactyly, Micrognathia, Split hand, Brachydactyly |
ORPHA:2145 |
Isolated Cleft Lip |
|
Conductive hearing impairment, Velopharyngeal insufficiency, Umbilical hernia, Macrodontia, Super... |
ORPHA:199302 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Arachnodactyly, Micromelia, Genu valgum, Sandal gap |
ORPHA:1035 |
Meester-Loeys Syndrome |
|
Aortic root aneurysm, Poor wound healing, Arachnodactyly, Pes planus, High palate, Pulmonary arte... |
OMIM:300989 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Rhizomelia, Broad thumb, Brachydactyly, Mesomelia |
ORPHA:171866 |
Malignant Peritoneal Mesothelioma |
|
Ileus, Abdominal distention, Dyspnea, Abdominal pain, Pedal edema |
ORPHA:168811 |
Aneurysm-Osteoarthritis Syndrome |
|
Abdominal aortic aneurysm, Intervertebral disk degeneration, Arachnodactyly, Knee osteoarthritis,... |
ORPHA:284984 |
Multiple Pterygium Syndrome, Lethal Type |
|
Pulmonary hypoplasia |
OMIM:253290 |
Poland Syndrome |
|
Abnormality of the outer ear, Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, E... |
ORPHA:2911 |
Coccidioidomycosis |
|
Vasculitis, Abnormality of the vertebral column, Hearing impairment, Respiratory distress, Broad ... |
ORPHA:228123 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatic failure, Diarrhea, Vomiting, Painless fractures due to injury, Respiratory distress, Auto... |
OMIM:256810 |
Congenital Tracheal Stenosis |
|
Abnormal lung lobation, Respiratory distress, Anomalous origin of left pulmonary artery from asce... |
ORPHA:141127 |
Al-Gazali Syndrome |
|
Gastrojejunal tube feeding in infancy, Osteopenia, Broad distal phalanx of finger, Micrognathia, ... |
OMIM:609465 |
Pediatric Systemic Lupus Erythematosus |
|
Diarrhea, Vomiting, Oral ulcer, Arthritis, Abdominal distention, Dyspnea, Abdominal pain |
ORPHA:93552 |
Matthew-Wood Syndrome |
|
Abnormal lung morphology, Pulmonary hypoplasia |
ORPHA:2470 |
Phakomatosis Pigmentokeratotica |
|
Hemiatrophy, Hypophosphatemic rickets, Scoliosis, Spina bifida |
ORPHA:2874 |
Bone Dysplasia, Lethal Holmgren Type |
|
Rhizomelia, Micromelia, Abnormal diaphysis morphology, Abnormal femur morphology, Abnormal thumb ... |
ORPHA:1842 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Platyspondyly, Abnormal epiphysis morphology, Meta... |
ORPHA:85167 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Cerebral cortical atrophy, Microcephaly, Sensorineural hearing impairment |
ORPHA:254913 |
Oromandibular Dystonia |
|
Abnormality of the temporomandibular joint, Abnormal mandible morphology, Respiratory distress, A... |
ORPHA:93958 |
Genitopatellar Syndrome |
|
Apnea, Pulmonary hypoplasia |
ORPHA:85201 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Vomiting, Abdominal distention, Congenital pyloric atresia, Oral mucosal blisters, Fragile skin, ... |
ORPHA:158684 |
Loeys-Dietz Syndrome 6 |
|
Abdominal aortic aneurysm, Intervertebral disk degeneration, Arachnodactyly, Knee osteoarthritis,... |
OMIM:619656 |
Marden-Walker Syndrome |
|
Pulmonary hypoplasia |
OMIM:248700 |
Liver Disease, Severe Congenital |
|
Dependency on parenteral nutrition, Protein-losing enteropathy, Hepatic failure, Diarrhea, Vomiti... |
OMIM:619991 |
Treacher Collins Syndrome 1 |
|
Conductive hearing impairment, Atresia of the external auditory canal, Cleft soft palate, Narrow ... |
OMIM:154500 |
Achondrogenesis Type 1B |
|
Short foot, Talipes equinovarus, Micrognathia, Micromelia |
ORPHA:93298 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Decreased liver function, Secondary microcephaly, Feeding difficulties, Apnea, Open mouth, Gingiv... |
OMIM:620423 |
Atrial Septal Defect, Ostium Primum Type |
|
Pulmonary artery dilatation, Cyanosis, Tachypnea, Exertional dyspnea, Dyspnea, Recurrent respirat... |
ORPHA:99106 |
Necrotizing Enterocolitis |
|
Diarrhea, Vomiting, Hypoactive bowel sounds, Apnea, Cyanosis, Abdominal rigidity, Abdominal diste... |
ORPHA:391673 |
Japanese Encephalitis |
|
Genu recurvatum, Distal upper limb muscle weakness, Abnormality of the internal capsule, Diarrhea... |
ORPHA:79139 |
Hypomandibular Faciocranial Dysostosis |
|
Coronal craniosynostosis, Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar f... |
OMIM:241310 |
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development |
|
Microcephaly, Right aortic arch with mirror image branching |
OMIM:107500 |
Thyroid Hemiagenesis |
|
Umbilical hernia, Jaundice, Constipation, Abdominal distention, Macroglossia |
ORPHA:95719 |
Ablepharon Macrostomia Syndrome |
|
Hypoplasia of the maxilla, Toe syndactyly, Hearing impairment, Atresia of the external auditory c... |
ORPHA:920 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Carious teeth, Toe syndactyly, Xerostomia, Ectrodactyly, Selective tooth agenesis,... |
OMIM:604292 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Cyanosis, Exertional dyspnea, Dyspnea, Anomalous pulmonary venous return |
ORPHA:99104 |
Cardioacrofacial Dysplasia 2 |
|
Postaxial foot polydactyly, Genu valgum, Limb undergrowth, Brachydactyly, Postaxial hand polydact... |
OMIM:619143 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea |
ORPHA:97285 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis |
OMIM:610773 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:263200 |
Moderate Hemophilia A |
|
Gingival bleeding, Gastrointestinal hemorrhage, Joint hemorrhage, Limitation of joint mobility, S... |
ORPHA:169805 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis |
ORPHA:330021 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Proximal muscle weakness in upper limbs, Respiratory distress, Calf muscle hypertrophy, Dysphagia... |
OMIM:620375 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Xerostomia, Bruising susceptibility, Gastroparesis, Abdominal disten... |
ORPHA:85443 |
Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Agenesis of corpus callosum, Bilateral cl... |
OMIM:610828 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous clef... |
OMIM:192445 |
Dent Disease |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Sparse bone trabeculae... |
ORPHA:1652 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Leukoencephalopathy, Low-set ears, Subdural hemorrhage, Cerebral atrophy, Respiratory distress, P... |
ORPHA:79282 |
Aicardi-Goutieres Syndrome 1 |
|
Leukoencephalopathy, Vasculitis, Erythema, Cerebral atrophy, Intracerebral periventricular calcif... |
OMIM:225750 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal rib morphology, Respiratory distress, Broad ribs, Hypoplasia of the corpus callosum, Sho... |
ORPHA:2519 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Pulmonary hypoplasia |
OMIM:612530 |
Leprechaunism |
|
Low-set ears, Megarectum, Abdominal distention, Long foot, Reduced subcutaneous adipose tissue, P... |
ORPHA:508 |
Autosomal Recessive Amelia |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:1027 |
Teebi Hypertelorism Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:145420 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Leukoencephalopathy, Decreased liver function, Respiratory distress, Death in childhood, Sensorin... |
OMIM:220110 |
Orofaciodigital Syndrome Xiv |
|
Low-set ears, Natal tooth, Occipital encephalocele, Micrognathia, Hypoplasia of the corpus callos... |
OMIM:615948 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Nausea and vomiting, Stroke, Anorexia, Abdominal pain, Feeding difficulties |
ORPHA:79312 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ... |
OMIM:271520 |
Encephalocraniocutaneous Lipomatosis |
|
Interrupted aortic arch, Cerebral cortical atrophy, Craniofacial hyperostosis, Cerebral atrophy, ... |
ORPHA:2396 |
Cap Polyposis |
|
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain, C... |
ORPHA:160148 |
Ciliary Dyskinesia, Primary, 37 |
|
Right aortic arch, Hearing impairment |
OMIM:617577 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Prolonged neonatal jaundice, Death in childhood, Pulmonary hypoplasia |
OMIM:214100 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Widely spaced toes, Sandal gap, Neonatal death, Clinodactyly of the 5th finger, Tapered distal ph... |
OMIM:609638 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pulmonary edema, Chylothorax, Pleural effusion |
OMIM:617300 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Low-set ears, Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneury... |
OMIM:620025 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Acrocyanosis |
ORPHA:1867 |
4Q21 Microdeletion Syndrome |
|
Small hand, Toe syndactyly, Micromelia, Short foot, Short palm |
ORPHA:238750 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Sensorineural hearing impairment, Ulnar deviation of... |
OMIM:122880 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Telangiectasia, Clubbing, Gastroint... |
OMIM:187300 |
Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Malabsorption, Chronic diarrhea, Abdominal distention |
OMIM:606824 |
Achondrogenesis |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:932 |
Liver Failure, Infantile, Transient |
|
Vomiting, Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal dis... |
OMIM:613070 |
C Syndrome |
|
Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micromelia, ... |
OMIM:211750 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Low-set ears, Hypoplastic helices, Cleft upper lip, Macrotia, Absent pulmonary artery, Tetralogy ... |
OMIM:600460 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:614091 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Cerebral cortical atrophy, Cerebral atrophy, Respiratory distress, Stroke-like episode, Microceph... |
OMIM:619272 |
Meckel Syndrome, Type 6 |
|
Bilobed right lung, Pulmonary hypoplasia |
OMIM:612284 |
Craniorachischisis |
|
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anal atre... |
ORPHA:63260 |
Marfan Syndrome |
|
Aortic root aneurysm, Open bite, Micrognathia, Limited elbow movement, Arachnodactyly, Pes planus... |
ORPHA:558 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Abdominal aortic aneurysm, Intervertebral disk degeneration, Arachnod... |
OMIM:613795 |
Ethylene Glycol Poisoning |
|
Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Pulmonary edema, Tachypnea |
ORPHA:31826 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... |
ORPHA:988 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Mixed total anomalous pulmonary venous connection, Paroxysmal dyspnea, Respiratory distress, Cyan... |
ORPHA:99125 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Malnutrition, Gastroparesis, Vascular dilatation, Abdominal distention, Abdominal pain, Spontaneo... |
OMIM:277320 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic failure, Diarrhea, Vomiting, Decreased liver function, Malnutrition, Feeding difficulties... |
ORPHA:275761 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Abnormal tibia morphology, Abnormality of the sphenoid sinus, Genu valgum, Micrognathia, Hypoplas... |
ORPHA:363700 |
Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
Acute Intermittent Porphyria |
|
Proximal muscle weakness in upper limbs, Diarrhea, Pseudobulbar paralysis, Ileus, Nausea and vomi... |
ORPHA:79276 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Diarrhea, Vomiting, Hepatic foam cells, Acute hepatic failure, Death in infancy,... |
OMIM:278000 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Genu valgum, Microcephaly... |
OMIM:619321 |
Eisenmenger Syndrome |
|
Respiratory distress, Vertigo, Tetralogy of Fallot, Cyanosis, Stroke, Aortopulmonary window, Pate... |
ORPHA:97214 |
Autosomal Dominant Cutis Laxa |
|
Low-set ears, Small bowel diverticula, Delayed cranial suture closure, Talipes calcaneovalgus, Di... |
ORPHA:90348 |
Caudal Regression Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3027 |
Rothmund-Thomson Syndrome Type 1 |
|
Abnormal trabecular bone morphology, Osteopenia, Patellar hypoplasia, Metaphyseal sclerosis, Pate... |
ORPHA:221008 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Sandal gap, Micromelia, Broad hallux, Long philtrum, Hypoplasia of the zygomatic bone, Single tra... |
OMIM:614800 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Respiratory distress, Episodic tachypnea, Tachypnea, Jaundice |
ORPHA:26793 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Pleural effusion, Cyanosis, Pulmonary edema |
OMIM:261740 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Diarrhea, Abdominal distention, Facial telangiectasia, Intermittent jaundice, Episodic abdominal ... |
ORPHA:100085 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Aortic root aneurysm, Cerebral atrophy, Talipes valgus, Pes cavus, Hypoplasia of the corpus callo... |
OMIM:618891 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Tachypnea, Intercostal retractions, Recurrent pneumonia |
ORPHA:1329 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hypoplasia of the corpus callosum, Abdominal distention, Jaundice, Thi... |
OMIM:618528 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Macrodactyly, Spinal dysraphism, Lower limb asymmetry, Sandal gap, Cranial hyperostosis, Venous m... |
OMIM:612918 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Pulmonary Hypertension, Primary, 1 |
|
Telangiectasia, Pulmonary artery vasoconstriction, Pulmonary aterial intimal fibrosis, Pulmonary ... |
OMIM:178600 |
Noonan Syndrome 1 |
|
High, narrow palate, Low-set ears, Dental malocclusion, Radial deviation of finger, Clinodactyly,... |
OMIM:163950 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Leukoencephalopathy, Hepatic failure, Vomiting, Focal T2 hyperintense basal ganglia lesion, Apnea... |
OMIM:252010 |
Fanconi Anemia, Complementation Group U |
|
Absent thumb, Microcephaly, Patent ductus arteriosus, Hypoplasia of the radius, Absent radius, Ab... |
OMIM:617247 |
Unilateral Polymicrogyria |
|
Pseudobulbar paralysis, Nasogastric tube feeding, Apnea, Cyanosis, Pulmonary arteriovenous malfor... |
ORPHA:268943 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Vasculitis, Gastroesophageal reflux, Transient ischemic attack, Cutis marmorata, Nausea and vomit... |
ORPHA:183 |
Rothmund-Thomson Syndrome Type 2 |
|
Abnormal trabecular bone morphology, Osteopenia, Patellar hypoplasia, Metaphyseal sclerosis, Pate... |
ORPHA:221016 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Abnormal pleura morphology, Aplasia/Hypoplasia of the lungs |
ORPHA:2570 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly |
OMIM:228250 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Bilateral sensorineural hearing impairment, Feeding difficulties in infancy, Punctate periventric... |
ORPHA:309256 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Platyspondyly, Cone-shaped epiphysis, Rhizomelic arm shortening, Iliac crest serration, Agenesis ... |
ORPHA:93317 |
Currarino Syndrome |
|
Anal stenosis, Absence of the sacrum, Gastrointestinal obstruction, Bifid sacrum, Chronic constip... |
OMIM:176450 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Diarrhea, Hematochezia, Abdominal distention |
ORPHA:103910 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan... |
ORPHA:348 |
Sotos Syndrome |
|
Abnormal vertebral morphology, Hearing impairment, Aplasia/Hypoplasia of the corpus callosum, Hip... |
ORPHA:821 |
Loeys-Dietz Syndrome |
|
Arterial dissection, Bifid uvula, Joint dislocation, Aortic dissection, Bruising susceptibility, ... |
ORPHA:60030 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Pulmonary hypoplasia |
OMIM:619148 |
Joubert Syndrome 21 |
|
Dyspnea, Apnea, Pulmonary hypoplasia |
OMIM:615636 |
Double Outlet Left Ventricle |
|
Pulmonary artery stenosis, Tachypnea, Cyanosis |
ORPHA:3427 |
Rodrigues Blindness |
|
Nasal flaring, Ectodermal dysplasia |
OMIM:268320 |
Ruvalcaba Syndrome |
|
Small hand, Synostosis of carpal bones, Micromelia, Brachydactyly, Clinodactyly of the 5th finger... |
ORPHA:3121 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia |
OMIM:619708 |
Poems Syndrome |
|
Sclerosis of foot bone, Sclerosis of hand bone, Metaphyseal sclerosis, Sclerotic vertebral endpla... |
ORPHA:2905 |
Desmoplastic Small Round Cell Tumor |
|
Abdominal pain, Ileus, Nausea and vomiting, Abdominal distention |
ORPHA:83469 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea |
ORPHA:159 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:79242 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Absent thumb, Retrognathia, Elbow flexion contracture, Hypoplastic pelvis, ... |
OMIM:618022 |
Heterotaxy, Visceral, 7, Autosomal |
|
Pulmonary artery atresia, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, C... |
OMIM:616749 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Vasculitis, Erythema, Diarrhea, Limitation of joint mobility, Gastrointestinal hemorrhage, Recurr... |
ORPHA:343 |
Fanconi Anemia, Complementation Group D2 |
|
Low-set ears, Absent thumb, Short thumb, Hearing impairment, Preaxial hand polydactyly, Bruising ... |
OMIM:227646 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Right aortic arch with mirror image branching |
OMIM:606217 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Cerebral calcification, Lumbar hyperlordosis, Joint stiffness, Recurrent ga... |
ORPHA:505248 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Tooth abscess, Rickets, Bowing of the legs |
ORPHA:89937 |
Isolated Arrhinia |
|
Tessier cleft, Respiratory distress, Hypoplasia of the nasal bone, Absent nasal septal cartilage,... |
ORPHA:1134 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death |
OMIM:620203 |
17Q11 Microdeletion Syndrome |
|
Low-set ears, Abnormality of the sphenoid sinus, Large hands, Osteopenia, Dilatation of the cereb... |
ORPHA:97685 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Bilateral sensorineural hearing impairment, Punctate periventricular T2 hyperintense foci, Abdomi... |
ORPHA:309263 |
Intellectual Disability-Short Stature-Hypertelorism Syndrome |
|
Clinodactyly of the 5th finger, Hypoplasia of the zygomatic bone, Long philtrum |
ORPHA:3074 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Erythema, Stillbirth, Pulmonary hypoplasia |
OMIM:308050 |
Acrocephalopolydactylous Dysplasia |
|
Extrapulmonary lobar sequestration, Pulmonary hypoplasia |
OMIM:200995 |
Atrial Septal Defect, Ostium Secundum Type |
|
Pneumonia, Cyanosis, Exertional dyspnea, Orthopnea, Dyspnea |
ORPHA:99103 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Oculogastrointestinal Muscular Dystrophy |
|
Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ... |
ORPHA:1876 |
Fucosidosis |
|
Abnormality of the dentition, Hearing impairment, Vascular skin abnormality, Anterior beaking of ... |
ORPHA:349 |
Thauvin-Robinet-Faivre Syndrome |
|
Macrotia, Long foot, Long hallux, Varicose veins, Thick vermilion border, Sensorineural hearing i... |
OMIM:617107 |
Aicardi-Goutières Syndrome |
|
Low-set ears, Degeneration of the striatum, Moyamoya phenomenon, Cerebral calcification, Calcific... |
ORPHA:51 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Microcolon, Ileal atresia, Sensorineural hearing impairment, Abdominal distention, Thoracic aorti... |
OMIM:619351 |
Nephrotic Syndrome, Type 1 |
|
Gastroesophageal reflux, Abdominal distention, Pyloric stenosis |
OMIM:256300 |
Pagod Syndrome |
|
Pulmonary artery hypoplasia, Encephalocele, Abnormality of the pulmonary artery, Abnormal aortic ... |
ORPHA:991 |
Hereditary Angioedema Type 1 |
|
Diarrhea, Dermatographic urticaria, Vomiting, Respiratory distress, Intestinal edema, Abdominal p... |
ORPHA:100050 |
Congenital Myopathy 17 |
|
Respiratory tract infection, Pulmonary hypoplasia |
OMIM:618975 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Femoral retroversion, Micromelia |
ORPHA:79107 |
Bacterial Toxic-Shock Syndrome |
|
Diarrhea, Vomiting, Respiratory distress, Osteomyelitis, Abnormality of the lower limb, Ecchymosi... |
ORPHA:36234 |
Alkaptonuria |
|
Joint dislocation, Atherosclerosis, Calcification of cartilage, Joint stiffness, Hearing abnormal... |
ORPHA:56 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2990 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Lip telangiectasia, Pulmonary arter... |
OMIM:610655 |
Fanconi Anemia, Complementation Group N |
|
Absent thumb, Short thumb, Microcephaly, Short neck, Hypoplasia of the radius, Anal atresia |
OMIM:610832 |
Metachromatic Leukodystrophy, Adult Form |
|
Bilateral sensorineural hearing impairment, Punctate periventricular T2 hyperintense foci, Bowel ... |
ORPHA:309271 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Periostitis, Respiratory distress, Broad ribs, Osteomyelitis, Joint swelling, Flaring... |
OMIM:612852 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress |
OMIM:212140 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Hypohidrotic ectoderma... |
OMIM:305100 |
Primary Peritoneal Carcinoma |
|
Abdominal pain, Constipation, Nausea and vomiting, Abdominal distention |
ORPHA:168829 |
Oligomeganephronia |
|
Pulmonary venous occlusion, Pulmonary hypoplasia |
ORPHA:2260 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Abnormal eating behavior, Agenesis of corpus callosum, Sensorineural hearin... |
ORPHA:209905 |
Ablepharon-Macrostomia Syndrome |
|
Low-set ears, Toe syndactyly, Microtia, third degree, Hearing impairment, Anteriorly placed anus,... |
OMIM:200110 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis |
OMIM:612301 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:208540 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Clubbing, Facial telangiectasia, Ce... |
OMIM:600376 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Pulmonary edema, Dyspnea |
OMIM:115197 |
Goodpasture Syndrome |
|
Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Nodular pattern on pulmonary HRCT, Cya... |
OMIM:233450 |
Neuroblastoma |
|
Respiratory distress, Pathologic fracture, Spinal cord compression, Abdominal distention, Chronic... |
ORPHA:635 |
Hall-Riggs Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Brachydactyly |
ORPHA:2107 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Death in adolescence, Prolonged neonatal jaundice, Jaundice |
OMIM:615512 |
Cardiac Valvular Dysplasia 2 |
|
Pulmonary artery dilatation, Central cyanosis |
OMIM:620067 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:615503 |
Pmm2-Cdg |
|
Feeding difficulties, Pes planus, High palate, Abnormal pinna morphology, Macrotia, Cerebellar ve... |
ORPHA:79318 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Abnormal fingertip morphology, Abnormal oral mucosa morphology, Vomiting, Malnutrition, Respirato... |
ORPHA:79404 |
Listeriosis |
|
Arteritis, Diarrhea, Hearing impairment, Vomiting, Respiratory distress, Osteomyelitis, Stiff nec... |
ORPHA:533 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Inflammation of the large intestine, Carious teeth, Periodontitis, Bruising susceptib... |
ORPHA:79259 |
Wilson Disease |
|
Hepatic failure, Chondrocalcinosis, Vomiting, Osteomalacia, Acute hepatic failure, Joint hypermob... |
OMIM:277900 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Micromelia |
ORPHA:2772 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Clinodactyly of the 2nd finger, Micromelia, Monkey wrench femoral neck, Genu v... |
OMIM:618870 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Micromelia, Micrognathia, Short ribs, Bowing of the long bones, Adducted thumb, Metaphyseal widen... |
OMIM:224400 |
Cardiogenic Shock |
|
Dyspnea, Cyanosis, Orthopnea, Hypoxemia |
ORPHA:97292 |
X-Linked Acrogigantism |
|
Diastema, Long foot, Polyphagia, Large hands, Abdominal distention |
ORPHA:300373 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Tachypnea |
OMIM:237310 |
Castleman Disease |
|
Nausea and vomiting, Intestinal obstruction, Jaundice, Abdominal pain, Abdominal distention, Dysp... |
ORPHA:160 |
Deafness, Autosomal Dominant 44 |
|
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... |
OMIM:607453 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia, Sacrococcygeal teratoma |
ORPHA:1757 |
Deafness, Autosomal Dominant 86 |
|
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... |
OMIM:620280 |
Thyroid Hypoplasia |
|
Macroglossia, Jaundice, Constipation, Abdominal distention |
ORPHA:95720 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Pterygium, Congenital pyloric atresia, Nausea and vomiting, Oral mucosal blisters, Intestinal atr... |
ORPHA:79403 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Apnea, Cyanosis |
OMIM:617239 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Death in infancy, Neonatal death |
OMIM:613730 |
Ovarian Fibroma |
|
Abdominal pain, Odontogenic keratocysts of the jaw, Abdominal distention |
ORPHA:314473 |
Ogden Syndrome |
|
Peripheral pulmonary artery stenosis, Facial wrinkling, Apnea, Pulmonary edema, Pulmonary artery ... |
OMIM:300855 |
Myotonic Dystrophy 1 |
|
Cerebral atrophy, Respiratory distress, Obsessive-compulsive trait, Feeding difficulties in infan... |
OMIM:160900 |
Dpm1-Cdg |
|
Sandal gap, Long hallux, Micrognathia, Limb undergrowth, Camptodactyly |
ORPHA:79322 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Limb undergrowth |
ORPHA:79243 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:614080 |
Acrofrontofacionasal Dysostosis |
|
Short distal phalanx of finger, Broad thumb, Micromelia, Camptodactyly of finger, Brachydactyly |
ORPHA:1784 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Generalized abnormality of skin |
ORPHA:367 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pr... |
OMIM:112250 |
Tetraploidy |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:3305 |
Myasthenia Gravis |
|
Rheumatoid arthritis, Hearing impairment, Dyspnea, Acrocyanosis, Dysphagia |
ORPHA:589 |
Thanatophoric Dysplasia Type 2 |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:93274 |
Peritoneal Cystic Mesothelioma |
|
Abdominal pain, Constipation, Abdominal distention |
ORPHA:168816 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Retrognathia, Cleft soft palate, Hydrocephalus, Cleft palate |
ORPHA:2736 |
Familial Calcium Pyrophosphate Deposition |
|
Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Calcification of cartilage, J... |
ORPHA:1416 |
Polyembryoma |
|
Abdominal pain, Abnormal sacrum morphology, Abdominal distention |
ORPHA:180229 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea |
ORPHA:2299 |
Chylomicron Retention Disease |
|
Diarrhea, Vomiting, Abdominal distention, Steatorrhea, Fat malabsorption |
ORPHA:71 |
Renal Agenesis, Bilateral |
|
Pulmonary hypoplasia |
ORPHA:1848 |
Osteogenesis Imperfecta, Type Xvi |
|
Rhizomelia, Microretrognathia, Bowing of the long bones, Angulated humerus, Mesomelia |
OMIM:616229 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress |
ORPHA:141083 |
Renal Agenesis |
|
Pulmonary hypoplasia |
ORPHA:411709 |
Letterer-Siwe Disease |
|
Dyspnea, Jaundice, Stomatitis, Abdominal distention |
OMIM:246400 |
Pentalogy Of Cantrell |
|
Pulmonary hypoplasia |
ORPHA:1335 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Thin upper lip vermilion, Overriding aorta, Patent ductus arteriosus, Vascular ring |
OMIM:601927 |
Gonadoblastoma |
|
Abdominal pain, Abdominal distention |
ORPHA:206484 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Malabsorption, Abnormal metaphysis morphology, Aganglionic megacolon, Biparietal narrowing, Long ... |
ORPHA:935 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:274150 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
Fanconi-Bickel Syndrome |
|
Rickets, Osteomalacia, Malabsorption, Reduced subcutaneous adipose tissue, Abdominal distention, ... |
OMIM:227810 |
Multiple Endocrine Neoplasia Type 2 |
|
Diarrhea, Abdominal distention, Abnormal tongue morphology, Ganglioneuromatosis, Reduced subcutan... |
ORPHA:653 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion |
ORPHA:292 |
Becker Nevus Syndrome |
|
Abnormal tibia morphology, Micromelia |
ORPHA:64755 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Coarctation of aorta, Bifid sternum, Right aortic arch |
OMIM:140850 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Pulmonary artery atresia, Atelectasis, Pulmonary hypoplasia |
OMIM:620371 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Ectrodactyly, Oligodactyly, Perineal fistula, Hypoplasia of the radius, Rectal atresia, Hydroceph... |
ORPHA:3016 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs |
ORPHA:2970 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
Deafness, Autosomal Dominant 77 |
|
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment |
OMIM:618915 |
Glucose-Galactose Malabsorption |
|
Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, Abdominal distention |
ORPHA:35710 |
Ovarian Fibrothecoma |
|
Abdominal pain, Abdominal distention |
ORPHA:314478 |
Thoracoabdominal Syndrome |
|
Pulmonary hypoplasia |
OMIM:313850 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Sensorineural hearing impairment, Abnormal cerebral white matter morphology... |
OMIM:164310 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Cerebral white matter atrophy, Hypoperistalsis, Abdominal distention |
OMIM:619365 |
Alg9-Cdg |
|
Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:79328 |
Primary Biliary Cholangitis |
|
Hepatic failure, Dermatographic urticaria, Jaundice, Osteoporosis, Abdominal distention, Steatorr... |
ORPHA:186 |
Glutamine Deficiency, Congenital |
|
Camptodactyly, Micromelia |
OMIM:610015 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Clinodactyly of the 5th finger, Limb undergrowth, Short middle phalanx of the 5th finger, Abnorma... |
ORPHA:319675 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Deformed humerus, Micrognathia, Mandibular condyle hypoplasia, Disl... |
ORPHA:2975 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hearing impairment, Respiratory distress, Feeding difficulties in infancy, Macroglossia, Multifoc... |
ORPHA:308552 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Metaphyseal cupping, Micromelia, Short ribs, Wide distal femoral metaphysis |
OMIM:613320 |
Hereditary Spherocytosis |
|
Jaundice, Abdominal pain, Gout, Abdominal distention |
ORPHA:822 |
Cocaine Intoxication |
|
Vomiting, Aortic dissection, Respiratory distress, Gastrointestinal infarctions, Ischemic stroke,... |
ORPHA:90068 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress |
ORPHA:98805 |
Cirrhosis, Familial |
|
Jaundice, Fulminant hepatitis, Esophageal varix, Abdominal distention |
OMIM:215600 |
Autosomal Recessive Polycystic Kidney Disease |
|
Spontaneous pneumothorax, Recurrent pneumonia, Hypoventilation, Jaundice, Pulmonary hypoplasia |
ORPHA:731 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Diarrhea, Vomiting, Respiratory distress, Cerebellar hemorrhage, Abnormal globus pallidus morphol... |
OMIM:251000 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short phalanx of finger, Micromelia, Brachydactyly, Short metacarpal |
OMIM:600092 |
Visceral Myopathy 1 |
|
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... |
OMIM:155310 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Micromelia, Abnormal diaphysis morphology, Camptodactyly of finger, Short r... |
ORPHA:2021 |
Q Fever |
|
Pneumonia, Respiratory distress, Pleural effusion, Abnormal pulmonary interstitial morphology, Pu... |
ORPHA:781 |
Vascular Ehlers-Danlos Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Carious teeth, Periodontitis, Narrow mouth, Excessive wrinkle... |
ORPHA:286 |
Cryptococcosis |
|
Abnormality of the outer ear, Cerebral cortical atrophy, Vomiting, Respiratory distress, Osteomye... |
ORPHA:1546 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Holoprosencephaly 2 |
|
Bifid uvula, Alobar holoprosencephaly, Semilobar holoprosencephaly, Median cleft palate, Malar fl... |
OMIM:157170 |
Histiocytoid Cardiomyopathy |
|
Vomiting, Stroke-like episode, Cyanosis, Agenesis of corpus callosum, Tachypnea, Hydrocephalus, C... |
ORPHA:137675 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Dural ectasia, Dental crowding, Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneu... |
OMIM:617168 |
Lujo Hemorrhagic Fever |
|
Diarrhea, Vomiting, Respiratory distress, Stiff neck, Ecchymosis, Nausea, Dysphagia, Cerebral ede... |
ORPHA:319213 |
Biotinidase Deficiency |
|
Myelopathy, Hearing impairment, Respiratory distress, Apnea, Sensorineural hearing impairment, Hy... |
ORPHA:79241 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death |
OMIM:602199 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress |
OMIM:615595 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Fryns Syndrome |
|
Chylothorax, Stillbirth, Pulmonary hypoplasia |
OMIM:229850 |
Sacral Defect With Anterior Meningocele |
|
Dermal sinus tract, Absence of the sacrum, Tethered cord, Hydromyelia, Rectal abscess, Myelomenin... |
OMIM:600145 |
Afibrinogenemia, Congenital |
|
Death in adolescence, Death in childhood, Death in infancy, Neonatal death |
OMIM:202400 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Rachitic rosary, Osteomalacia, Pathologic fracture, Hypophosphatemic rickets, Reduced bone minera... |
ORPHA:157215 |
Colonic Atresia |
|
Peptic ulcer, Abdominal distention, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Erythema, Abnormal pleura morphology, Recurrent respiratory infections |
ORPHA:537 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Enlarged metaphyses, Aplasia/hypoplasia involving bones of the extremities, Postaxial foot polyda... |
ORPHA:508533 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Pulmonary hypoplasia |
OMIM:616546 |
Autosomal Dominant Coarctation Of Aorta |
|
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus |
ORPHA:1455 |
Hereditary Fructose Intolerance |
|
Diarrhea, Vomiting, Nausea, Chronic hepatic failure, Abdominal pain, Constipation, Abdominal dist... |
ORPHA:469 |
Gitelman Syndrome |
|
Chondrocalcinosis, Polydipsia, Diarrhea, Respiratory distress, Vertigo, Cerebral calcification, G... |
ORPHA:358 |
Microvillus Inclusion Disease |
|
Diarrhea, Villous atrophy, Abdominal distention, Abnormal small intestinal villus morphology |
ORPHA:2290 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death |
OMIM:618232 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Vomiting, Secretory diarrhea, Nasogastric tube feeding, Respiratory distress, Osteomyelitis, Ileu... |
ORPHA:37042 |
Plague |
|
Inflammation of the large intestine, Diarrhea, Vomiting, Hearing impairment, Chapped lip, Respira... |
ORPHA:707 |
Criss-Cross Heart |
|
Cyanosis |
ORPHA:1461 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Diarrhea, Rickets, Osteomalacia, Abdominal pain, Osteoporosis, Abdominal distention, Steatorrhea,... |
ORPHA:309031 |
Gm1 Gangliosidosis |
|
Coarse metaphyseal trabecularization, Abnormal diaphysis morphology, Camptodactyly of finger, Lim... |
ORPHA:354 |
Mirizzi Syndrome |
|
Vomiting, Abdominal colic, Anorexia, Nausea, Abdominal pain, Abdominal distention, Jaundice |
ORPHA:521219 |
Lymphatic Malformation 12 |
|
Death in adolescence, Neonatal death |
OMIM:620014 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Familial Dysautonomia |
|
Abnormal pleura morphology, Acrocyanosis, Recurrent respiratory infections |
ORPHA:1764 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Micromelia, Short phalanx of finger, Short metacarpal |
ORPHA:1422 |
Congenital Alveolar Capillary Dysplasia |
|
Abnormal vertebral morphology, Volvulus, Duodenal stenosis, Respiratory distress, Intestinal malr... |
ORPHA:210122 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mesomelia, Rhizomelia, Genu valgum, Metaphyseal striations, Flat capital femoral epiphysis, Brach... |
OMIM:271510 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death |
OMIM:619817 |
Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Tetralogy of Fallot, Right aortic arch, Coarctation of a... |
OMIM:613854 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Jaundice, Death in infancy |
OMIM:617156 |
Thyroid Ectopia |
|
Umbilical hernia, Jaundice, Constipation, Abdominal distention, Macroglossia, Dysphagia |
ORPHA:95712 |
Gm1-Gangliosidosis, Type Ii |
|
Hypoplastic vertebral bodies, Limb undergrowth, Coxa valga |
OMIM:230600 |
Hypophosphatemic Bone Disease |
|
Osteomalacia, Rickets, Bowing of the legs |
OMIM:146350 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Microcolon, Umbilical hernia, Intestinal malrotation, Nausea and vomiting, Death in infancy, Abdo... |
ORPHA:2241 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Diarrhea, Gastroesophageal reflux, Vomiting, Feeding difficulties in infancy, Neuropathic arthrop... |
OMIM:223900 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Clubbing of toes, Micromelia, Brachydactyly |
ORPHA:1318 |
Nocardiosis |
|
Pneumonia, Respiratory distress, Emphysema, Pleural effusion, Pneumothorax, Dyspnea, Pleuritis |
ORPHA:31204 |
Ciliary Dyskinesia, Primary, 53 |
|
Cerebellar vermis hypoplasia, Right aortic arch, Persistent left superior vena cava, Chronic sinu... |
OMIM:620642 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation |
ORPHA:3301 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatic failure, Focal T2 hyperintense basal ganglia lesion, Apnea, Episodic respiratory distress... |
ORPHA:255210 |
Kasabach-Merritt Phenomenon |
|
Hypopnea, Respiratory distress, Petechiae, Abnormal lymphatic vessel morphology, Abdominal disten... |
ORPHA:2330 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Diarrhea, Xerostomia, Abdominal distention, Oral synechia, Generalized abnormality of skin, Respi... |
ORPHA:95455 |
Ovarian Hyperstimulation Syndrome |
|
Abdominal pain, Nausea and vomiting, Nausea, Abdominal distention |
ORPHA:64739 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Xerostomia, Tooth agenesis, Abnormal den... |
ORPHA:238468 |
Heterotaxy, Visceral, 4, Autosomal |
|
Total anomalous pulmonary venous return, Bilateral superior vena cava, Dextrotransposition of the... |
OMIM:613751 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Short phalanx of finger, Limb undergrowth, Micrognathia, Short toe |
OMIM:225410 |
Fetal Akinesia Deformation Sequence 1 |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:208150 |
Smooth Muscle Dysfunction Syndrome |
|
Pulmonary artery dilatation, Intestinal malrotation, Dilatation of the cerebral artery, Aortic ar... |
OMIM:613834 |
Tetraamelia Syndrome 2 |
|
Bilateral lung agenesis, Hypoplastic pulmonary veins |
OMIM:618021 |
Hemorrhagic Fever-Renal Syndrome |
|
Pneumonia, Respiratory distress, Pleural effusion, Petechiae, Ecchymosis, Pulmonary edema, Dyspnea |
ORPHA:340 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, 2-3 toe syndactyly, Brachydactyly, Clinodactyly of the 5th finger, Metaphyseal irregu... |
OMIM:618162 |
Axial Mesodermal Dysplasia Spectrum |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:1834 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Interrupted aortic arch, Umbilical hernia, Respiratory distress, Intestinal malrotation, Cervical... |
ORPHA:2255 |
Gallbladder Neuroendocrine Tumor |
|
Abdominal distention, Intermittent jaundice, Episodic abdominal pain, Anorexia, Nausea |
ORPHA:100086 |
Alström Syndrome |
|
Lumbar scoliosis, Polyphagia, Pes planus, Thickened ears, Abnormality of dental color, Esophageal... |
ORPHA:64 |
Lumbar Syndrome |
|
Myelomeningocele, Ectopic anus, Anal atresia, Spina bifida |
ORPHA:83628 |
Mckusick-Kaufman Syndrome |
|
Pulmonary hypoplasia |
OMIM:236700 |
Tetraamelia Syndrome 1 |
|
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia |
OMIM:273395 |
Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Tetralogy of Fallot, Right aortic arch, Pulmonary artery atre... |
OMIM:618780 |
Cardiac-Urogenital Syndrome |
|
Interrupted aortic arch, Wide nasal bridge, Tracheomalacia, Intestinal malrotation, Tetralogy of ... |
OMIM:618280 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Erythema, Respiratory distress, Fragile skin, Abnormal pulmonary interstitial morphology, Recurre... |
OMIM:614748 |
Dpagt1-Cdg |
|
Pulmonary hypoplasia |
ORPHA:86309 |
Aorta Coarctation |
|
Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent left superior vena cava,... |
ORPHA:1457 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Pulmonary hypoplasia |
ORPHA:1112 |
Lethal Congenital Contracture Syndrome 9 |
|
Pulmonary hypoplasia |
OMIM:616503 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Microcolon, Abdominal distention, Neonatal death |
OMIM:619362 |
Geleophysic Dysplasia 3 |
|
Limb undergrowth, Short foot, Brachydactyly |
OMIM:617809 |
Meacham Syndrome |
|
Pulmonary sequestration, Aplasia/Hypoplasia of the lungs, Anomalous pulmonary venous return, Abno... |
ORPHA:3097 |
Adult-Onset Still Disease |
|
Erythema, Joint swelling, Cartilage destruction, Arthritis, Arthralgia/arthritis, Abdominal pain |
ORPHA:829 |
Tuberous Sclerosis Complex |
|
Self-injurious behavior, Generalized abnormality of skin, Respiratory distress, Pulmonary lymphan... |
ORPHA:805 |
Sponastrime Dysplasia |
|
Mesomelia, Metaphyseal irregularity, Rhizomelia, Flattened humeral epiphyses, Short femoral neck,... |
ORPHA:93357 |
Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Gout, Oral ulcer, Protuberant abdomen, Osteoporosis |
OMIM:232220 |
Tbck-Related Intellectual Disability Syndrome |
|
Clinodactyly, 11 pairs of ribs, 2-3 toe syndactyly, Limb undergrowth, Broad toe, Broad finger |
ORPHA:488632 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Bifid uvula, Tooth malposition, Hypoplasia of the olfactory bulb, Failure of eruption of permanen... |
ORPHA:2250 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Secretory diarrhea, Abdominal distention |
OMIM:214700 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
Infantile Systemic Hyalinosis |
|
Micromelia, Brachydactyly, Short palm, Camptodactyly of finger |
ORPHA:2176 |
Primary Hyperoxaluria |
|
Abnormality of the dentition, Abnormal dental pulp morphology, Cutis marmorata, Generalized osteo... |
ORPHA:416 |
Hypoplastic Left Heart Syndrome |
|
Hypoplastic aortic arch, Patent ductus arteriosus |
ORPHA:2248 |
Hypomagnesemia 3, Renal |
|
Vomiting, Rickets, Polydipsia, Genu valgum, Hypomature enamel, Amelogenesis imperfecta, Feeding d... |
OMIM:248250 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Limb undergrowth, Clinodactyly |
OMIM:616541 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Colon perforation, Interrupted aortic arch, Microcolon, Cervical ribs, Intestinal malrotation, Um... |
OMIM:600001 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Jejunoileal ulceration, Rectal abscess, Intestinal malrotation, Intestinal atresia, Abdominal dis... |
ORPHA:436252 |
Glycogen Storage Disease Ia |
|
Osteoporosis, Intermittent diarrhea, Gout, Protuberant abdomen |
OMIM:232200 |
Heterotaxy, Visceral, 6, Autosomal |
|
Transposition of the great arteries, Total anomalous pulmonary venous return, Right aortic arch, ... |
OMIM:614779 |
Fraser Syndrome |
|
Pulmonary hypoplasia, Death in infancy, Abnormal lung lobation |
ORPHA:2052 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Umbilical hernia, Feeding difficulties in infancy, Constipation, Abdominal distention, Macroglossia |
OMIM:218700 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Brachydactyly, Coxa vara, Clinodactyly of the 5th finger, Abnormal metaphysis morphology |
ORPHA:2637 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:3044 |
Dermatomyositis |
|
Erythema, Shawl sign, V-sign, Acrocyanosis, Lung adenocarcinoma, Facial erythema, Telangiectasia ... |
ORPHA:221 |
Cardiac Valvular Dysplasia 1 |
|
Pulmonary artery atresia, Cyanosis |
OMIM:212093 |
Postinfectious Vasculitis |
|
Palpable purpura, Cerebral vasculitis, Anorexia, Cutis marmorata, Ischemic stroke, Vascular dilat... |
ORPHA:48435 |
Penile Agenesis |
|
Bilateral lung agenesis, Pulmonary hypoplasia |
ORPHA:49 |
Vacterl/Vater Association |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:887 |
Exstrophy-Epispadias Complex |
|
Anal stenosis, Abnormal joint morphology, Microcephaly, Hydrocephalus, Spina bifida, Anal atresia |
ORPHA:322 |
Tracheobronchopathia Osteochondroplastica |
|
Calcification of cartilage, Esophagitis, Exertional dyspnea |
ORPHA:3348 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Broad thumb, Clinodactyly, Micrognathia, Brachydactyly, Camptodactyly, Short phalanx of finger, M... |
OMIM:616894 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Limb undergrowth |
OMIM:618005 |
Reactive Arthritis |
|
Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Join... |
ORPHA:29207 |
Norrie Disease |
|
Self-injurious behavior, Cerebral cortical atrophy, Abnormal helix morphology, Malar flattening, ... |
ORPHA:649 |
Pancreatoblastoma |
|
Vomiting, Diarrhea, Abdominal pain, Abdominal distention, Jaundice |
ORPHA:677 |
Colchicine Poisoning |
|
Respiratory distress |
ORPHA:31824 |
Leptospirosis |
|
Respiratory distress, Jaundice, Pulmonary hemorrhage, Pleural effusion |
ORPHA:509 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Hypoplastic aortic arch, Right aortic arch, Congenital... |
OMIM:619702 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Distal shortening of limbs, Small hand, Short foot, Broad femoral neck |
ORPHA:488434 |
Bifid Uvula |
|
Bifid uvula, Cleft lip, Submucous cleft soft palate |
ORPHA:99771 |
Slc39A8-Cdg |
|
Cutaneous syndactyly of toes, Limb undergrowth |
ORPHA:468699 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Rhizomelia, Clinodactyly, Radial deviation ... |
OMIM:180700 |
Mednik Syndrome |
|
Death in childhood, Death in infancy, Neonatal death |
OMIM:609313 |
Ellis Van Creveld Syndrome |
|
Short distal phalanx of finger, Synostosis of carpal bones, Micromelia, Genu valgum, Hand polydac... |
ORPHA:289 |
Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Genu valgum, Metatarsus valgus, Bowing of the long bones, Talipes equin... |
ORPHA:800 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Cutis marmorata, Peripheral arterial stenosis, Increased bone mineral densit... |
OMIM:259900 |
Leukocyte Adhesion Deficiency Type Ii |
|
Overlapping toe, Limb undergrowth |
ORPHA:99843 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Micrognathia, Mesomelia |
OMIM:613457 |
Cranioectodermal Dysplasia 2 |
|
Rhizomelia, Clinodactyly, Micrognathia, Polydactyly, Short ribs, Brachydactyly, Postaxial hand po... |
OMIM:613610 |
Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Micromelia, Camptodactyly of finger, Avascular necrosis of the capital femoral... |
ORPHA:3107 |
Genitopatellar Syndrome |
|
Pulmonary hypoplasia |
OMIM:606170 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Wide nasal bridge, Anal stenosis, Hypoplasia of the maxilla, Oligodontia, Thin upper lip vermilio... |
OMIM:180500 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis, Bilateral superior vena cava with bridging vein, Pulmonary artery atresia, Double aorti... |
ORPHA:216694 |
Heterotaxy, Visceral, 8, Autosomal |
|
Aortopulmonary collateral arteries, Congenitally corrected transposition of the great arteries wi... |
OMIM:617205 |
Atresia Of Urethra |
|
Patent urachus, Abdominal distention |
ORPHA:105 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death |
OMIM:615709 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Micromelia |
ORPHA:1675 |
Multicystic Dysplastic Kidney |
|
Abdominal distention |
ORPHA:1851 |
C Syndrome |
|
Toe syndactyly, Micromelia, Micrognathia, Hand polydactyly, Clinodactyly of the 5th finger, Dislo... |
ORPHA:1308 |
Peters Plus Syndrome |
|
Rhizomelia, Toe syndactyly, Short toe, Micromelia, Micrognathia, Brachydactyly, Clinodactyly of t... |
ORPHA:709 |
Microphthalmia, Syndromic 1 |
|
Pulmonary hypoplasia |
OMIM:309800 |
Familial Bicuspid Aortic Valve |
|
Thoracic aorta calcification, Aortic arch aneurysm, Coarctation of aorta, Ascending aortic dissec... |
ORPHA:402075 |