Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Temporomandibular joint ankylosis, Cleft palate, Aspiration pneumonia, Micr... |
ORPHA:141152 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Talipes equinovarus, Flat capital femoral epiphysis, Cleft pal... |
OMIM:601560 |
Acromesomelic Dysplasia 2A |
|
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... |
OMIM:200700 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
High palate, Coxa vara, Flat capital femoral epiphysis, Cleft palate, Short femur, Micrognathia, ... |
OMIM:147891 |
Nemaline Myopathy 9 |
|
High palate, Cleft palate, Micrognathia, Respiratory insufficiency, Arthrogryposis multiplex cong... |
OMIM:615731 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
High palate, Flexion contracture, Micrognathia, Osteopenia, Short humerus, Microcephaly, Rhizomel... |
OMIM:222765 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... |
OMIM:619598 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... |
OMIM:601376 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur |
OMIM:600121 |
Pierre Robin Syndrome |
|
Cleft palate, Glossoptosis, Micrognathia, Upper airway obstruction, Neonatal respiratory distress... |
OMIM:261800 |
Angioosteohypotrophic Syndrome |
|
Telangiectasia of the skin, Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upp... |
ORPHA:75508 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... |
OMIM:311895 |
Omodysplasia 2 |
|
Dislocated radial head, Short 1st metacarpal, Short humerus, Long philtrum, Rhizomelic arm shorte... |
OMIM:164745 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
High palate, Dislocated radial head, Narrow mouth, Talipes equinovarus, Malar flattening, Flexion... |
OMIM:602471 |
Femur-Fibula-Ulna Complex |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short humerus, Micromel... |
ORPHA:2019 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Asthma, Metaphyseal irregularity, Metaphyseal cupping, Talipes equinovarus, Coxa vara, Swan neck-... |
OMIM:616716 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Cleft palate, 11 pairs of ribs, Rhizomelia, Clubbing, Multinuclea... |
OMIM:108720 |
Pierre Robin Syndrome And Oligodactyly |
|
Hand oligodactyly, Pierre-Robin sequence, Micrognathia, Cleft palate |
OMIM:172880 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Gingival overgrowth, Retrognathia, Micrognathia, Microcephaly, Gingival fib... |
ORPHA:1832 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
Perching Syndrome |
|
High palate, Respiratory distress, Flexion contracture, Camptodactyly |
OMIM:617055 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Talipes equinovarus, Cleft palate, Micrognathia, Microcephaly, Cutaneous photosensitivity, Arthro... |
OMIM:616570 |
Isolated Pierre Robin Syndrome |
|
Cleft palate, Glossoptosis, Micrognathia, Upper airway obstruction, Neonatal respiratory distress |
ORPHA:718 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... |
OMIM:250215 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Cleft palate, Short femur, Glossoptosis, Micrognathia, Femoral bowing, Metaphyseal widening, Brac... |
ORPHA:440354 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Macroglossia, Micrognathia, Micromelia, Limb undergrowth, Generalized osteo... |
ORPHA:1423 |
Bullous Dystrophy, Hereditary Macular Type |
|
Microcephaly, Death in childhood, Tapered finger, Acrocyanosis, Short finger |
OMIM:302000 |
Mesomelic Limb Shortening And Bowing |
|
Bowing of the legs, Mesomelic leg shortening, Cleft palate, Retrognathia, Micrognathia, Camptodac... |
OMIM:249710 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Malar flattening, Mesomelic arm short... |
OMIM:171480 |
Spondyloepiphyseal Dysplasia Congenita |
|
Laryngotracheomalacia, Cleft palate, Dysplasia of the femoral head, Glossoptosis, Micrognathia, S... |
ORPHA:94068 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Deviation of finger, Genu valgum... |
ORPHA:2831 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Macrocephaly, Micromeli... |
OMIM:184260 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Rhizomelia, Short metatarsal, Sh... |
OMIM:601438 |
Kyphomelic Dysplasia |
|
Cleft upper lip, Tibial bowing, Radial bowing, Talipes equinovarus, Limitation of joint mobility,... |
OMIM:211350 |
Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... |
ORPHA:93323 |
Autosomal Dominant Omodysplasia |
|
Malar flattening, Micrognathia, Short 1st metacarpal, Short humerus, Long philtrum, Rhizomelia, S... |
ORPHA:93328 |
Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Premature loss of teeth, Metaphyseal dysplasia, Thin vermilion border, Short philtrum, Flared met... |
OMIM:156510 |
Femoral-Facial Syndrome |
|
Preaxial foot polydactyly, Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Cleft... |
ORPHA:1988 |
Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
Neuralgic Amyotrophy |
|
Narrow mouth, Cleft palate, Respiratory insufficiency, Scapular winging, Acrocyanosis |
ORPHA:2901 |
Odontochondrodysplasia |
|
Respiratory distress, Dentinogenesis imperfecta, Retrognathia, Cone-shaped epiphysis, Micromelia,... |
ORPHA:166272 |
Atelosteogenesis Type Ii |
|
Broad phalanx, Cleft palate, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbb... |
ORPHA:56304 |
Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Cleft palate, Hand oligodactyly, Glo... |
ORPHA:3104 |
Auriculocondylar Syndrome 2 |
|
Dental malocclusion, Narrow mouth, Apnea, Macrocephaly, Cleft palate, Short mandibular rami, Glos... |
OMIM:614669 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Multiple Synostoses Syndrome 1 |
|
Short sternum, Clinodactyly of the 4th toe, Short philtrum, Symphalangism affecting the phalanges... |
OMIM:186500 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Ectrodactyly, Upper limb phocomelia, Radial club hand, Short humerus, Long philtrum, Hypoplasia o... |
ORPHA:2878 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Narrow mouth, Absent thumb, Short femur, Thin vermilion border, Short tibia, Microcephaly, Hypopl... |
OMIM:612447 |
Multiple Synostoses Syndrome 3 |
|
Cleft palate, Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostos... |
OMIM:612961 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Aplasia/Hypoplasia of the ulna, Split hand, Microcephaly, Short humerus, Micromelia, Postaxial ha... |
ORPHA:2491 |
Congenital Disorder Of Glycosylation, Type Iu |
|
High palate, Respiratory distress, Micrognathia, Death in infancy, Neonatal respiratory distress,... |
OMIM:615042 |
Cyanosis And Hepatic Disease |
|
Dyspnea, Cyanosis, Clubbing |
OMIM:219400 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Cleft palate, Short ribs, Short femur, Micrognathia, Flared metaphysi... |
OMIM:616897 |
Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617907 |
Arthrogryposis, Distal, Type 1C |
|
High palate, Metacarpophalangeal joint contracture, Narrow mouth, Clinodactyly of the 5th finger,... |
OMIM:619110 |
Aase-Smith Syndrome |
|
Joint stiffness, Multiple joint contractures, Talipes equinovarus, Slender finger, Cleft palate, ... |
ORPHA:916 |
Phosphoserine Aminotransferase Deficiency |
|
Apnea, Secondary microcephaly, Death in infancy, Cyanotic episode |
OMIM:610992 |
Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Kniest Dysplasia |
|
Respiratory distress, Delayed epiphyseal ossification, Tibial bowing, Coxa vara, Hip contracture,... |
OMIM:156550 |
Atelosteogenesis Type I |
|
Malrotation of colon, Talipes equinovarus, Cleft palate, Short femur, Abnormal ossification invol... |
ORPHA:1190 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Atelosteogenesis, Type Ii |
|
Lacunar halos around chondrocytes, Talipes equinovarus, Malar flattening, Cleft palate, Bifid hum... |
OMIM:256050 |
Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Cleft palate, Micrognathia, Cyanosis, Microcephaly, Tachypnea, Pneumothorax, Abnor... |
ORPHA:2257 |
Osteolysis Syndrome, Recessive |
|
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... |
OMIM:259610 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Delayed epiphyseal ossification, Fragmented epiphys... |
ORPHA:166016 |
Catel-Manzke Syndrome |
|
Joint stiffness, Clinodactyly of the 5th finger, Malar flattening, Cleft palate, Glossoptosis, Mi... |
ORPHA:1388 |
Orofacial Cleft 13 |
|
Malar flattening, Retrognathia, Micrognathia, Oligodontia, Cleft soft palate |
OMIM:613857 |
Atelosteogenesis Type Iii |
|
High palate, Abnormality of the humerus, Patellar dislocation, Hand clenching, Elbow dislocation,... |
ORPHA:56305 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Wide mouth, Micrognathia, Microcephaly, Widely spaced teeth, Clinodactyly |
OMIM:300934 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Hip contracture, Advanced ossification of carpal bones, Tooth agenesis, Microretrogn... |
OMIM:618363 |
Auriculocondylar Syndrome |
|
Respiratory distress, Dental malocclusion, Narrow mouth, Abnormality of the crus of the helix, Ma... |
ORPHA:137888 |
Melnick-Needles Syndrome |
|
Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Delayed eruption of teeth, Oste... |
OMIM:309350 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
High palate, Respiratory distress, Talipes equinovarus, Cleft palate, Respiratory insufficiency, ... |
OMIM:614399 |
Faciocardiomelic Dysplasia, Lethal |
|
Narrow mouth, Retrognathia, Micrognathia, Hypoplasia of the radius, Short 5th finger, Neonatal de... |
OMIM:227270 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress, Limitation of joint mobility |
ORPHA:2680 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Neonatal death, Camptodactyly, Bowing of the long bon... |
OMIM:619751 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Cleft Palate, Isolated |
|
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Cleft Palate-Lateral Synechia Syndrome |
|
Narrow mouth, Cleft palate, Everted lower lip vermilion, Micrognathia, Oral synechia |
ORPHA:2016 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Premature loss of teeth, Recurrent fractures, Macrocephaly, Relative macrocephaly, Increased bone... |
OMIM:239000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Malar flattening, Cleft palate, Small hand, Abnormal hand morphology, Short foot |
OMIM:300261 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Cleft palate, ... |
ORPHA:3320 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:611783 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Cleft palate, Abnormal hip bone morphology, Thin vermilion border, Retrognathia, Camptodactyly of... |
ORPHA:2631 |
Diaphanospondylodysostosis |
|
Respiratory distress, Cleft palate, Abnormal vertebral segmentation and fusion, Absent or minimal... |
ORPHA:66637 |
Split-Hand/Foot Malformation 3 |
|
High palate, Narrow mouth, Microretrognathia, Cleft palate, Camptodactyly, Hypoplasia of the maxi... |
OMIM:246560 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short philtrum, Short hum... |
OMIM:607143 |
Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Anodontia, Increased bone mineral density, Cleft palate, Abnormal... |
ORPHA:90650 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Short distal phalanx of finger, Abnormality of the dentition, Osteolysis, Hypoplasia of the maxilla |
ORPHA:2776 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Malar flattening, Cleft palate, Split foot, Micrognathia, Split hand, Toe syndactyly |
OMIM:183700 |
Cerebrocostomandibular Syndrome |
|
High palate, Calcaneal epiphyseal stippling, Clinodactyly of the 5th finger, Malar flattening, Gl... |
OMIM:117650 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
High palate, Narrow mouth, Macrocephaly, Microretrognathia, Abnormal morphology of ulna, Cleft pa... |
ORPHA:1307 |
Moebius Syndrome |
|
High palate, Respiratory distress, Talipes equinovarus, Abnormality of the dentition, Micrognathi... |
OMIM:157900 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Short clavicles, Short ribs, Short humerus, Short femoral neck, Rhizomelia, Prominent deltoid tub... |
OMIM:610319 |
Ivic Syndrome |
|
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... |
OMIM:147750 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
High palate, Macrocephaly, Talipes equinovarus, Camptodactyly of finger, Microcephaly, Tapered fi... |
ORPHA:85279 |
Acheiropodia |
|
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... |
ORPHA:931 |
Holt-Oram Syndrome |
|
Aplasia of the ulna, Short clavicles, Absent thumb, Hypoplasia of the radius, Partial duplication... |
OMIM:142900 |
Cholesterol Pneumonia |
|
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia |
OMIM:215030 |
Terminal Osseous Dysplasia |
|
Mesomelic leg shortening, Short toe, Multiple joint contractures, Toe clinodactyly, Malar flatten... |
OMIM:300244 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of t... |
OMIM:617102 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Narrow mouth, Short toe, Cleft palate, Coronal craniosynostosis, Micrognathia, Brachydactyly, Gen... |
OMIM:614078 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Flexion contracture, Micrognathia, Wrist flexion contractu... |
ORPHA:1143 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
High palate, Talipes equinovarus, Hand clenching, Areflexia of lower limbs, Retrognathia, Microgn... |
OMIM:611890 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... |
ORPHA:363417 |
Baller-Gerold Syndrome |
|
High palate, Cleft palate, Hypoplasia of the radius, Hypoplasia of the ulna, Sagittal craniosynos... |
OMIM:218600 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Telangiectasia, Ankle flexion contracture, High, narrow palate, Small hand,... |
OMIM:608799 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Cleft palate, Retrognathia, Micrognathia, Camptodactyly of finger, Microcephaly, Bifid uvula, Man... |
ORPHA:2521 |
Multiple Epiphyseal Dysplasia Type 4 |
|
High palate, Short metacarpal, Cleft palate, Arthralgia of the hip, Abnormal hand morphology, Upp... |
ORPHA:93307 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Short distal phalanx of finger, Short toe, Aplasia/Hypoplasia of the distal phalanges of the toes... |
ORPHA:3201 |
Diastrophic Dysplasia |
|
Hip contracture, Talipes equinovarus, Cleft palate, Costal cartilage calcification, Irregular epi... |
OMIM:222600 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Narrow greate... |
ORPHA:93316 |
Codas Syndrome |
|
Anal atresia, Metaphyseal dysplasia, Delayed ossification of carpal bones, Generalized joint laxi... |
OMIM:600373 |
Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Macrocephaly, Short femur, Hypoplastic ilia, Congenital hip dislocation... |
ORPHA:93333 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Osteopenia, Delayed eruption of teeth, Tapered finger, Flat capital femoral epiphysi... |
OMIM:612350 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Diffuse palmoplantar hyperkeratosis, Acrocyanosis |
ORPHA:86918 |
Nager Syndrome |
|
Wide mouth, Joint stiffness, Cleft palate, Hypoplasia of the radius, Micrognathia, Respiratory in... |
ORPHA:245 |
Parc Syndrome |
|
Microretrognathia, Cleft palate |
OMIM:600331 |
Thanatophoric Dysplasia Type 1 |
|
Joint stiffness, Macrocephaly, Short femur, Excessive wrinkled skin, Femoral bowing, Respiratory ... |
ORPHA:1860 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
High palate, Clinodactyly of the 5th finger, Cleft palate, Abnormality of the dentition, Microgna... |
ORPHA:576283 |
Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
Hypoglossia With Situs Inversus |
|
High palate, Respiratory distress, Narrow mouth, Hypodontia, Micrognathia, Upper airway obstructi... |
OMIM:612776 |
Adducted Thumbs Syndrome |
|
High palate, Velopharyngeal insufficiency, High, narrow palate, Cleft palate, Craniosynostosis, R... |
OMIM:201550 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Cleft palate, Micrognathia, Abnormality of tibia morphology, Aplasia... |
ORPHA:971 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Short femur, Amelia, Bilateral cleft lip and palate, Foot oligodactyly |
OMIM:601357 |
Rhizomelic Syndrome, Urbach Type |
|
High palate, Short distal phalanx of finger, Abnormality of the tongue, Cleft palate, Micrognathi... |
ORPHA:3098 |
Cranioectodermal Dysplasia 1 |
|
High palate, Microdontia, Single transverse palmar crease, Rhizomelia, Sagittal craniosynostosis,... |
OMIM:218330 |
Catifa Syndrome |
|
Asthma, Tooth malposition, Cleft palate, Long philtrum, Delayed eruption of teeth, Mild microceph... |
OMIM:618761 |
Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Tooth agenesis, Cleft palate, Open bite, Microdontia, Hypoplasia ... |
ORPHA:1248 |
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation |
|
Thick upper lip vermilion, Cleft palate, Abnormality of the dentition, Short philtrum, Mandibular... |
OMIM:226440 |
Cleft Velum |
|
Aspiration pneumonia, Velopharyngeal insufficiency, Hypoplasia of the maxilla, Cleft soft palate |
ORPHA:99772 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Short clavicles, Microretrognathia, Cyanosis, Rectal prolapse, Overtubulate... |
OMIM:619793 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Malar flattening, Cleft palate, Glossoptosis, Micrognathia, Osteoarthritis, Long philtrum, Abnorm... |
ORPHA:166100 |
Apnea, Central Sleep |
|
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration |
OMIM:207720 |
Atelosteogenesis, Type Iii |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Malar flattening, Cleft pala... |
OMIM:108721 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... |
OMIM:607078 |
Keipert Syndrome |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Macrocephaly, Broad hallux phalan... |
ORPHA:2662 |
Mesomelia-Synostoses Syndrome |
|
Abnormality of femur morphology, Micromelia, Abnormality of the humerus, Abnormality of the ankle... |
ORPHA:2496 |
Aarskog-Scott Syndrome |
|
Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Single transverse palmar c... |
ORPHA:915 |
Auriculocondylar Syndrome 1 |
|
Dental malocclusion, Narrow mouth, Apnea, Macrocephaly, Cleft palate, Glossoptosis, Micrognathia,... |
OMIM:602483 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Malar flattening, Cleft palate, Flexion contracture, Micrognathia, Respiratory insufficiency, Fla... |
OMIM:215100 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Leri-Weill Dyschondrosteosis |
|
High palate, Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hy... |
OMIM:127300 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Femoral bowing, 11 pairs of ribs, Micromelia, Long foot, Single transverse palmar crease, Prolong... |
OMIM:210710 |
Heart-Hand Syndrome Type 2 |
|
Joint stiffness, Abnormal morphology of ulna, Hand polydactyly, Abnormality of the dentition, Mic... |
ORPHA:1350 |
Lujan-Fryns Syndrome |
|
High palate, Macrocephaly, Arachnodactyly, Abnormality of the dentition, Short philtrum, Microgna... |
ORPHA:776 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Anal atresia, Tracheoesophageal fistula, Short humerus, Hand polydactyly, Proximal placement of t... |
OMIM:314390 |
Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Short metatarsal, Split foot, Broad hallux phalanx, Symphalangism affecting t... |
ORPHA:1540 |
Isolated Osteopoikilosis |
|
Abnormality of femur morphology, Joint stiffness, Abnormal bone ossification, Sclerosis of foot b... |
ORPHA:166119 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Cleft upper lip, High palate, Aplasia/Hypoplasia of the ulna, Cleft palate, Hand oligodactyly, Hy... |
OMIM:602418 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... |
ORPHA:750 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
High palate, Respiratory distress, Talipes equinovarus, Arthrogryposis-like hand anomaly, Paradox... |
OMIM:620011 |
Cleidocranial Dysplasia 1 |
|
High palate, Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Cleft pala... |
OMIM:119600 |
Temple Syndrome |
|
High palate, Relative macrocephaly, Cleft palate, Flexion contracture, Small hand, Micrognathia, ... |
OMIM:616222 |
Paget Disease Of Bone 2, Early-Onset |
|
Premature loss of teeth, Sclerosis of skull base, Short femur, Femoral bowing, Fractures of the l... |
OMIM:602080 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cleft palate, Split foot, Microcephaly, Oral cleft, Premature skin wrinkling, Ma... |
OMIM:601349 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
High palate, Dislocated radial head, Talipes equinovarus, Long upper lip, Cleft palate, Micrognat... |
ORPHA:93359 |
Pfeiffer Syndrome Type 2 |
|
High palate, Anal atresia, Respiratory distress, Malar flattening, Cleft palate, Intestinal malro... |
ORPHA:93259 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Clinodactyly of the 5th finger, Cleft palate, Abnormal hip bone morphology, Arachnodactyly, Radio... |
ORPHA:2725 |
Dyssegmental Dysplasia With Glaucoma |
|
Delayed epiphyseal ossification, Hip contracture, Malar flattening, Cleft palate, Flared metaphys... |
OMIM:601561 |
Autosomal Recessive Omodysplasia |
|
Abnormality of femur morphology, Craniosynostosis, Hypoplastic distal humeri, Micrognathia, Long ... |
ORPHA:93329 |
Femoral-Facial Syndrome |
|
Cleft palate, Short fourth metatarsal, Radioulnar synostosis, Short fifth metatarsal, Talipes equ... |
OMIM:134780 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
Treacher Collins Syndrome 4 |
|
Malar flattening, Cleft palate, Micrognathia, Microcephaly, Respiratory failure requiring assiste... |
OMIM:618939 |
Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Metaphyseal irregularity, Widely-spaced incisors, Slender finger, Oligodontia, Flared metaphysis,... |
OMIM:601668 |
Omodysplasia 1 |
|
Malar flattening, Limited knee flexion/extension, Increased fibular diameter, Micrognathia, Short... |
OMIM:258315 |
Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... |
ORPHA:199306 |
Postsynaptic Congenital Myasthenic Syndromes |
|
High palate, Reduced vital capacity, Triceps weakness, Shoulder girdle muscle weakness, Cyanosis,... |
ORPHA:98913 |
Lowry-Maclean Syndrome |
|
Microcephaly, Delayed eruption of teeth, Cleft palate, Craniosynostosis |
OMIM:600252 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Short hallux, Oligodontia of primary teeth, Sandal gap, Cleft soft palate |
OMIM:216300 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Epiphyseal dysplasia, Malar flattening, Cleft palate, Pierre-Robin sequence, Premature osteoarthr... |
OMIM:184840 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Metatarsal osteolysis, Micrognathia, Osteopenia, Pes cavus, Bilatera... |
OMIM:166300 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
High palate, Cleft palate, Small finger, Hypoplasia of the maxilla, Clinodactyly of the 5th finge... |
OMIM:170390 |
Short Stature, Brussels Type |
|
Calcification of cartilage, Macrocephaly, Microretrognathia, Delayed epiphyseal ossification |
ORPHA:2867 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
Stickler Syndrome Type 1 |
|
Cleft palate, Osteoarthritis, Long philtrum, Abnormality of vertebral epiphysis morphology, Abnor... |
ORPHA:90653 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Wide mouth, High, narrow palate, Thin vermilion border, Retrognathia, Short... |
ORPHA:2707 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Macrocephaly, Cone-shape... |
ORPHA:397973 |
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate |
|
Cleft upper lip, Preaxial hand polydactyly, Microcephaly, Cleft palate |
OMIM:601420 |
Orofaciodigital Syndrome Type 10 |
|
Retrognathia, Micrognathia, Long philtrum, Cleft soft palate, Short toe, Oligodactyly, Tarsal syn... |
ORPHA:2756 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Progeroid facial appearance, Slender long bones with narrow diaphyses, Osteopenia, Metaphyseal st... |
OMIM:608154 |
Acrodysostosis |
|
Short toe, Abnormal morphology of ulna, Open bite, Hypoplasia of the radius, Cone-shaped epiphysi... |
ORPHA:950 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Primary microcephaly |
ORPHA:171703 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Coxa vara, Talipes equinovarus, Malar flattening, Cleft palate, Delayed cal... |
OMIM:183900 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Micrognathia, Retrognathia, Bifid uvula |
OMIM:615706 |
Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Short distal phalanx of the thumb, Partial duplication of the distal phalanx of the hallux, Bifid... |
OMIM:256200 |
Ophthalmomandibulomelic Dysplasia |
|
Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Camptodactyly of finger, Micr... |
ORPHA:2741 |
Langer Mesomelic Dysplasia |
|
High palate, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Mesomelic... |
ORPHA:2632 |
Diastrophic Dysplasia |
|
Joint stiffness, Hypoplastic cervical vertebrae, Macrocephaly, Increased bone mineral density, Cl... |
ORPHA:628 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Cleft palate, Hip dysplasia, Aplasia/hypoplasia involving bones of the ex... |
ORPHA:1856 |
Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Sandal gap, Anal atresia, Pectora... |
OMIM:607323 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Hyperoxemia, Abnormal respiratory system physiology, Chronic lung disease, ... |
ORPHA:70589 |
Ulbright-Hodes Syndrome |
|
High palate, Respiratory distress, Narrow mouth, Aplasia/Hypoplasia of the ulna, Short sternum, L... |
ORPHA:3404 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
High palate, Respiratory distress, Flexion contracture, Arachnodactyly, Osteopenia, Congenital hi... |
OMIM:271225 |
Occipital Horn Syndrome |
|
High palate, Short clavicles, Hiatus hernia, Coxa valga, Bruising susceptibility, Short humerus, ... |
OMIM:304150 |
Stickler Syndrome, Type Ii |
|
High, narrow palate, Cleft palate, Malar flattening, Arachnodactyly, Micrognathia, Bifid uvula, L... |
OMIM:604841 |
Osteoglophonic Dysplasia |
|
High palate, Respiratory distress, Broad phalanx, Craniosynostosis, Rhizomelia, Bowing of the lon... |
OMIM:166250 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Decreased ... |
OMIM:183849 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Micrognathia, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
Zimmermann-Laband Syndrome 3 |
|
High palate, Short distal phalanx of finger, Gingival overgrowth, Long hallux, Absent distal phal... |
OMIM:618658 |
Meier-Gorlin Syndrome 1 |
|
High palate, Respiratory distress, Cleft palate, Absent glenoid fossa, Microdontia, Genu valgum, ... |
OMIM:224690 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the tongue, Arachnoda... |
ORPHA:2759 |
Mohr Syndrome |
|
High palate, Cleft palate, Lobulated tongue, Tongue nodules, Hypoplasia of the maxilla, Partial d... |
OMIM:252100 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Cleft palate, Tracheomalacia, Micrognathia, Microcephaly, Brachydactyly, Sy... |
OMIM:217980 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
High palate, Craniosynostosis, Hypoplasia of the radius, Hypoplasia of the ulna, U-Shaped upper l... |
OMIM:609945 |
Congenital Myasthenic Syndrome |
|
High palate, Episodic respiratory distress, Microretrognathia, Respiratory arrest, Central sleep ... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
High palate, Episodic respiratory distress, Microretrognathia, Respiratory arrest, Central sleep ... |
ORPHA:98914 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
High palate, Respiratory distress, Hip contracture, Ankle flexion contracture, Short ribs, Respir... |
ORPHA:1145 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Narrow mouth, Clinodactyly of the 5th finger, Talipes equinovarus, Short femur, Micrognathia, Bro... |
OMIM:300990 |
Choanal Atresia |
|
Respiratory distress, Tracheomalacia, Craniosynostosis, Cyanosis, Abnormal nasal mucus secretion,... |
ORPHA:137914 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
High palate, Cleft palate, Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th fin... |
OMIM:268305 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Acro-Renal-Ocular Syndrome |
|
Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Broad hallux phalanx, Sho... |
ORPHA:959 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Arthrogryposis multiplex congenita, Apneic episodes precipitated by illness... |
OMIM:254210 |
Fetal Akinesia Deformation Sequence 2 |
|
High palate, Cleft palate, Flexion contracture, Micrognathia, Respiratory insufficiency, Tented u... |
OMIM:618388 |
Ulnar-Mammary Syndrome |
|
Aplasia of the 5th metacarpal, Hypoplasia of the radius, Pyloric stenosis, Hypoplasia of the ulna... |
OMIM:181450 |
Frontonasal Dysplasia 1 |
|
Median cleft palate, Joint contracture of the hand, Brachydactyly, Camptodactyly, Postaxial hand ... |
OMIM:136760 |
Pycnodysostosis |
|
High palate, Abnormality of the dentition, Carious teeth, Rhizomelia, Hypoplasia of the maxilla, ... |
ORPHA:763 |
Tetrasomy 5P |
|
High palate, Respiratory distress, Overlapping toe, Clinodactyly of the 5th finger, Talipes equin... |
ORPHA:3309 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Wheezing, Cough, Restri... |
ORPHA:1302 |
Radio-Renal Syndrome |
|
Respiratory distress, High, narrow palate, Chylothorax, Retrognathia, Micrognathia, Hypoplasia of... |
ORPHA:3015 |
Asbestos Intoxication |
|
Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Nonproductive cough, Cyanosis... |
ORPHA:2302 |
Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
2Q32Q33 Microdeletion Syndrome |
|
High palate, Narrow mouth, Clinodactyly of the 5th finger, Talipes equinovarus, Toe clinodactyly,... |
ORPHA:251019 |
Aminopterin Syndrome Sine Aminopterin |
|
High palate, Macrocephaly, Joint contracture of the hand, Cleft palate, Arachnodactyly, Micrognat... |
OMIM:600325 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Joint stiffness, Clinodactyly of the 5th finger, Macrocephaly, Abnormal morphology of ulna, Abnor... |
ORPHA:1275 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Narrow mouth, Malar flattening, Cleft palate, Arachnodactyly, Micrognathia, Microcephaly, Death i... |
ORPHA:93946 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
High palate, Dental malocclusion, Respiratory distress, Micrognathia, Osteopenia, Deep philtrum, ... |
ORPHA:329178 |
Say Syndrome |
|
Short distal phalanx of finger, Cleft palate, Micrognathia, Ulnar deviation of the 3rd finger, Mi... |
OMIM:181180 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Trident pelvis, Flexion contracture, Short humerus, Long philtrum, Microdontia, Brachydactyly, Sh... |
OMIM:619479 |
Split-Hand/Foot Malformation 1 |
|
Ectrodactyly, Hand oligodactyly, Cleft palate, Split foot, Syndactyly, Broad hallux, Triphalangea... |
OMIM:183600 |
Campomelic Dysplasia |
|
High palate, Respiratory distress, Apnea, Poorly ossified cervical vertebrae, Macrocephaly, Cleft... |
OMIM:114290 |
20P12.3 Microdeletion Syndrome |
|
Narrow mouth, Macrocephaly, Malar flattening, Broad hallux phalanx, Long philtrum, Broad thumb, H... |
ORPHA:261295 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ectopic anus, Malar flattening, Cleft palate, Short philtrum, Aplasia/Hypoplasia of the distal ph... |
ORPHA:94066 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... |
ORPHA:174 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Cleft palate, Craniosynostosis, Abnormal epiphysis morphology, Hypoplasia o... |
ORPHA:2554 |
Rapadilino Syndrome |
|
High palate, High, narrow palate, Cleft palate, Absent thumb, Aplasia/Hypoplasia of the patella, ... |
OMIM:266280 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Ectopic anus, Short distal phalanx of finger, Microretrognathia, Cleft palate, Arachnodactyly, Ab... |
ORPHA:2994 |
Rare Circulatory System Disease |
|
Abnormality of finger, Abnormal metatarsal morphology, Cyanosis, Decreased finger mobility, Perio... |
ORPHA:98028 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Pde4D Haploinsufficiency Syndrome |
|
Broad phalanx, Short philtrum, Cone-shaped epiphysis, Upper limb undergrowth, Broad hallux, Hypop... |
ORPHA:439822 |
Microphthalmia With Limb Anomalies |
|
High palate, Cleft palate, Macrodontia, Abnormality of the upper limb, Hypoplasia of the maxilla,... |
ORPHA:1106 |
Cohen Syndrome |
|
Macrodontia of permanent maxillary central incisor, High, narrow palate, Joint hypermobility, Mic... |
OMIM:216550 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Arthrogryposis multiplex congenita, Natal tooth, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
High palate, Macrocephaly, Long foot, Long palm, Hypoplasia of the maxilla, Mandibular prognathia |
OMIM:300676 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
High palate, 2-3 toe syndactyly, Micrognathia, Cyanosis, Microcephaly, Single transverse palmar c... |
ORPHA:3304 |
Otopalatodigital Syndrome, Type I |
|
Cleft palate, Short 3rd metacarpal, Broad hallux, Sandal gap, Broad distal phalanx of the thumb, ... |
OMIM:311300 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Narrow mouth, Cleft palate, Tracheomalacia, Micrognathia, Aglossia, Mandibu... |
OMIM:202650 |
Waardenburg Syndrome Type 3 |
|
Joint stiffness, Abnormality of finger, Tracheomalacia, Camptodactyly of finger, Microcephaly, Sy... |
ORPHA:896 |
Dysostosis, Stanescu Type |
|
Tooth agenesis, Increased bone mineral density, Macroglossia, Massively thickened long bone corti... |
ORPHA:1798 |
Boomerang Dysplasia |
|
Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Abnorma... |
ORPHA:1263 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
High palate, Respiratory distress, Macroglossia, Respiratory failure requiring assisted ventilati... |
ORPHA:254864 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Apnea, Cyanosis, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dysp... |
OMIM:265120 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Macrocephaly, Flexion contracture, Neonatal death, Fragile skin, Congenital pyloric atresia |
OMIM:612138 |
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
Microcephaly, Hypoplasia of the maxilla, Craniosynostosis |
OMIM:608432 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Progressive microcephaly, Cyanosis, Central apnea |
ORPHA:71277 |
Geroderma Osteodysplasticum |
|
Recurrent fractures, Periodontitis, Tibial bowing, Progeroid facial appearance, Malar flattening,... |
OMIM:231070 |
Van Den Ende-Gupta Syndrome |
|
High palate, Cleft palate, Craniosynostosis, Femoral bowing, Narrow foot, Tapered finger, Glenoid... |
OMIM:600920 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Thin vermilion border, Micrognathia, Short philtrum, Microcephaly |
ORPHA:261304 |
Myotubular Myopathy With Abnormal Genital Development |
|
High palate, Respiratory distress, Retrognathia, Neonatal death, Death in infancy, Joint hypermob... |
OMIM:300219 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Pallister-Hall-Like Syndrome |
|
Macrocephaly, Cleft palate, Short ribs, Micrognathia, Micromelia, Postaxial hand polydactyly, Dea... |
OMIM:241800 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Cleft palate, Diastema, Microdontia, Brachydactyly, Radioulnar synostosis, Syn... |
OMIM:605282 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the ulna, Aplasia/hypoplasia of the humerus, Upper limb phocomelia, Radial ... |
ORPHA:3312 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Cough, Tachypnea, Respiratory failure |
OMIM:263000 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency, Tongue fasciculations |
ORPHA:238329 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Delayed eruption of teeth, Thin metacarpal cortices, Thin bony cortex, Hypoplasia of ... |
OMIM:259600 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Hypoxemia, Cyanosis, Neonatal death, Tachypnea, Cough, Clubbing, Dea... |
OMIM:610921 |
Cleidocranial Dysplasia |
|
Macrocephaly, Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruptio... |
ORPHA:1452 |
Hereditary Methemoglobinemia |
|
Exertional dyspnea, Cyanosis, Microcephaly, Lip discoloration |
ORPHA:621 |
Pfeiffer Syndrome |
|
High palate, Elbow ankylosis, Humeroradial synostosis, Coronal craniosynostosis, Short middle pha... |
OMIM:101600 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Short metacarpal, Malar flattening, Cleft palate, Flexion contracture, Micr... |
OMIM:215150 |
Amish Lethal Microcephaly |
|
Micrognathia, Microcephaly, Osteoporosis, Decreased skull ossification, Death in infancy, Limitat... |
ORPHA:99742 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Desbuquois Dysplasia 2 |
|
Cleft palate, Cutaneous syndactyly, Monkey wrench femoral neck, Single transverse palmar crease, ... |
OMIM:615777 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cleft palate, Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Pat... |
OMIM:274000 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Wide mouth, Macrocephaly, Triangular mouth, Cleft palate, Abnormality of the dentition, Partial d... |
OMIM:616331 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Temporomandibular joint ankylosis, Episodic tachypnea, High, narrow palate, Slender finger, Micro... |
ORPHA:2872 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Reduced forced vital capacity, Cough, Intercostal retractions, Ta... |
ORPHA:91359 |
Renal Dysplasia-Limb Defects Syndrome |
|
High palate, Respiratory distress, Narrow mouth, Aplasia of the ulna, Short sternum, Talipes equi... |
OMIM:266910 |
Orofaciodigital Syndrome Type 5 |
|
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... |
ORPHA:2919 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Joint stiffness, Tooth agenesis, Cleft palate, Abnormality of lower lip, Abnormal hip bone morpho... |
ORPHA:1166 |
Martsolf Syndrome 1 |
|
High palate, Finger joint hypermobility, Short philtrum, Broad fingertip, Hypoplasia of the maxil... |
OMIM:212720 |
Microphthalmia With Limb Anomalies |
|
High palate, Cleft upper lip, Tibial bowing, Talipes equinovarus, Cleft palate, Hand oligodactyly... |
OMIM:206920 |
Orofaciodigital Syndrome X |
|
Hand oligodactyly, Cleft palate, Retrognathia, Coalescence of tarsal bones, Fibular aplasia, Prea... |
OMIM:165590 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Progressive microcephaly, Adducted thumb, Thin vermilion border, Short philtrum, Microcephaly, Bi... |
OMIM:618622 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Relative macrocephaly, Short ribs, Hypoplasia of the radius, Hypoplastic il... |
OMIM:617895 |
Coffin-Lowry Syndrome |
|
High palate, Wide mouth, Broad finger, Delayed eruption of teeth, Advanced eruption of teeth, Dea... |
ORPHA:192 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Femoral bowing, Osteopenia, Short ribs |
OMIM:618188 |
Coloboma Of Macula And Skeletal Anomalies |
|
Cleft palate, Contracture of the distal interphalangeal joint of the 5th finger, Genu valgum, Hal... |
OMIM:216800 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
High palate, Narrow mouth, Talipes equinovarus, Adducted thumb, Retrognathia, Micrognathia, Long ... |
OMIM:272430 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Arthralgia of the hip, Abnormal cartilage morphology, Premature os... |
ORPHA:93284 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Progressive microcephaly, Thin upper lip vermilion, Long philtrum |
OMIM:614741 |
Arthrogryposis, Distal, Type 3 |
|
High palate, Overlapping toe, Decreased hip abduction, Talipes equinovarus, Cleft palate, Microgn... |
OMIM:114300 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Slender finger, Malar flattening, Cleft palate, Micrognathia, Microcephaly,... |
OMIM:610536 |
8Q22.1 Microdeletion Syndrome |
|
Craniosynostosis, Abnormality of the dentition, Camptodactyly of finger, Microcephaly, Long philt... |
ORPHA:178303 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Flexion contracture of finger, Abnormality of the dentition, Osteope... |
ORPHA:3206 |
Pfeiffer Syndrome Type 3 |
|
High palate, Anal atresia, Respiratory distress, Cleft palate, Tracheomalacia, Intestinal malrota... |
ORPHA:93260 |
Premature Aging Syndrome, Penttinen Type |
|
Thin vermilion border, Micrognathia, Osteopenia, Brachydactyly, Delayed eruption of teeth, Slende... |
OMIM:601812 |
Greenberg Dysplasia |
|
Macrocephaly, Anterior rib punctate calcifications, 11 pairs of ribs, Micromelia, Rhizomelia, Hyp... |
OMIM:215140 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Cleft upper lip, Anodontia, Hypodontia, Cleft palate, Malar flattening, Cutaneous syndactyly of t... |
OMIM:225060 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Wide mouth, Duodenal atresia, Macrocephaly, Short femur, Intestinal malrotation, Microcephaly, Ge... |
OMIM:617798 |
Craniofacial-Deafness-Hand Syndrome |
|
Narrow mouth, Camptodactyly of finger, Ulnar deviation of the wrist, Ulnar deviation of finger, A... |
ORPHA:1529 |
Laryngeal Abductor Paralysis |
|
Microcephaly, Cyanosis, Stridor, Talipes equinovarus |
OMIM:150260 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Tibial bowing, Limitation of joint mobility, Abnormal iliac wing morphology... |
ORPHA:1427 |
Short Stature-Micrognathia Syndrome |
|
High palate, 2-3 toe syndactyly, Cleft palate, Retrognathia, Micrognathia, Metaphyseal widening, ... |
OMIM:617164 |
Autosomal Recessive Stickler Syndrome |
|
Epiphyseal dysplasia, Malar flattening, Cleft palate, Micrognathia, Genu valgum, Abnormal epiphys... |
ORPHA:250984 |
Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Flexion contracture, Cough |
ORPHA:77260 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Malar flattening, Coronal craniosynostosis, Micrognathia, Aglossia, Hypoplasia of th... |
OMIM:241310 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Cleft palate, Micrognathia, Hypoplastic distal segments of scapulae, Joint hypermobility, Pierre-... |
OMIM:602196 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, High, narrow palate, Cleft palate, Camptodactyly of finger, Synos... |
ORPHA:957 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Absent ossification of capit... |
ORPHA:226313 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Erythema, Angioedema, Upper airway obstruction, Swollen lip |
ORPHA:100057 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Clinodactyly of the 5th finger, Microcephaly, Long philtrum, Long fingers, Tapered finger, Joint ... |
OMIM:614407 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Decreased DLCO, Cough, Pneumonia, Restrictive ventilatory defect, Hypoxemia, Dyspnea, C... |
OMIM:610910 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Cyanosis, R... |
OMIM:610913 |
Tetraploidy |
|
Cleft palate, Micrognathia, Short philtrum, Radial club hand, Microcephaly, Biparietal narrowing |
ORPHA:3305 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Abnormal femoral neck/head morphology, Abnormal bone ossification, Slender finger, C... |
ORPHA:163649 |
Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Cleft palate, Split foot, Median cleft lip, Split hand, Cutaneous finger synd... |
DECIPHER:46 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
High palate, 2-3 toe syndactyly, Flexion contracture, Tapered finger, Long fingers, Hypoplasia of... |
OMIM:218000 |
Diaphanospondylodysostosis |
|
Respiratory distress, Talipes equinovarus, Cleft palate, Tracheomalacia, Micrognathia, Respirator... |
OMIM:608022 |
Metatropic Dysplasia |
|
Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of the 5th... |
ORPHA:2635 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Metacarpophalangeal joint contracture, Edema of the dorsum of feet, Hypodon... |
ORPHA:544503 |
Carpenter Syndrome 1 |
|
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Genu valgum, Sagittal cranio... |
OMIM:201000 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Apnea, Flexion contracture, Short femur, Microcephaly, Short humerus, Polyd... |
ORPHA:17 |
Braddock-Carey Syndrome 2 |
|
Wide mouth, Cleft palate, Retrognathia, Microcephaly, Clinodactyly, Pierre-Robin sequence |
OMIM:619981 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Macrocephaly, Delayed eruption of teeth, Long foot, Pneumoni... |
OMIM:264090 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Cleft upper lip, Joint contracture of the hand, Cleft palate, Overlapping fingers, Micromelia, Ca... |
OMIM:601016 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
High palate, Short distal phalanx of finger, Talipes calcaneovarus, Macrocephaly, Talipes equinov... |
OMIM:300534 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Microcephaly, Long philtrum, Hypoplasia of the capital femoral epiphysis, Irregular... |
OMIM:613805 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Coxa valga, Ul... |
OMIM:164900 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Macrocephaly, Hiatus hernia, Craniosynostosis, ... |
ORPHA:3342 |
Otopalatodigital Syndrome, Type Ii |
|
Cleft palate, Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rud... |
OMIM:304120 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Micrognathia, Respiratory insufficiency, Syndactyly, Neonatal death, Hypoplasia of the ulna, Meso... |
OMIM:228940 |
Orofaciodigital Syndrome Iv |
|
High palate, Accessory oral frenulum, Cleft palate, Postaxial polydactyly, Micrognathia, Short ti... |
OMIM:258860 |
Aarskog-Scott Syndrome |
|
Cleft upper lip, Hypodontia, Cleft palate, Hyperextensibility of the finger joints, Brachydactyly... |
OMIM:305400 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Micrognathia, Bifid uvula, Cleft palate |
OMIM:606164 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Gingival overgrowth, Short humerus, Brachydactyly, Delayed eruption of teeth, Rhizomelic arm shor... |
ORPHA:508542 |
Verloove Vanhorick-Brubakk Syndrome |
|
Abnormality of femur morphology, Cleft palate, Micrognathia, Limb undergrowth, Abnormal metacarpa... |
ORPHA:3429 |
Ollier Disease |
|
Joint stiffness, Micromelia, Abnormal cartilage morphology, Osteolysis, Abnormal metaphysis morph... |
ORPHA:296 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly |
OMIM:133100 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia |
OMIM:141700 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
High palate, Respiratory distress, Apnea, Aspiration pneumonia, Micrognathia, Polydactyly, Deep p... |
ORPHA:314655 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Cone-shaped epiphyses of the phalanges of the hand, Short humerus, Brachyda... |
ORPHA:420794 |
Lowry-Maclean Syndrome |
|
High, narrow palate, Cleft palate, Craniosynostosis, Retrognathia, Micrognathia, Osteopenia, Micr... |
ORPHA:2409 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Cleft palate, Club-shaped prox... |
OMIM:184250 |
Schneckenbecken Dysplasia |
|
Metaphyseal irregularity, Advanced ossification of carpal bones, Macrocephaly, Malar flattening, ... |
OMIM:269250 |
Lethal Kniest-Like Dysplasia |
|
Hypoplastic vertebral bodies, Talipes equinovarus, Abnormal cartilage matrix, Cleft palate, Short... |
ORPHA:2347 |
Synaptic Congenital Myasthenic Syndromes |
|
High palate, Respiratory distress, Sleep apnea, Hand muscle weakness, Talipes equinovarus, Triang... |
ORPHA:98915 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary... |
ORPHA:2414 |
Orofaciodigital Syndrome Ix |
|
High palate, Accessory oral frenulum, Cleft palate, Abnormality of the dentition, Short tibia, Mi... |
OMIM:258865 |
Frontometaphyseal Dysplasia 1 |
|
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Delayed er... |
OMIM:305620 |
Tarp Syndrome |
|
Alveolar ridge overgrowth, Apnea, Hypoplasia of proximal radius, Short sternum, Talipes equinovar... |
ORPHA:2886 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Narrow mouth, Talipes equinovarus, Cleft palate, Craniosynostosis, Micrognat... |
OMIM:251230 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Postaxial polydactyly, Short philtrum, Diastema, Limb undergrowth, Genu ... |
OMIM:619142 |
Occipital Horn Syndrome |
|
Hiatus hernia, Osteopenia, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, ... |
ORPHA:198 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
High palate, Narrow mouth, Cleft palate, Small hand, Micrognathia, Short philtrum, Bifid uvula, P... |
ORPHA:96184 |
Meckel Syndrome 14 |
|
Microretrognathia, Postaxial polydactyly, Retrognathia, Micrognathia, Decreased calvarial ossific... |
OMIM:619879 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Craniosynostosis, Bilateral talipes equinovarus, Micrognathia, Cyanotic episode, Primary microcep... |
ORPHA:284417 |
Van Maldergem Syndrome 1 |
|
High palate, Short fourth metatarsal, Osteopenia, Tented upper lip vermilion, Hypoplasia of the m... |
OMIM:601390 |
Kniest Dysplasia |
|
Flexion contracture of finger, Macrocephaly, Cleft palate, Abnormal bone structure, Dumbbell-shap... |
ORPHA:485 |
Oculofaciocardiodental Syndrome |
|
Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Radioulnar synostosis, Ham... |
ORPHA:2712 |
Double Outlet Right Ventricle |
|
Narrow mouth, Abnormality of cartilage of external ear, Cleft palate, Intestinal malrotation, Cya... |
ORPHA:3426 |
Nablus Mask-Like Facial Syndrome |
|
High palate, Narrow mouth, Joint contracture of the hand, Craniosynostosis, Retrognathia, Abnorma... |
OMIM:608156 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Microretrognathia, Adducted thumb, Primary microcephaly, Rocker bottom foot |
ORPHA:89844 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
High palate, Macrocephaly, Flexion contracture, Arachnodactyly, Micrognathia, Short philtrum, Hyp... |
OMIM:309520 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Malar flattening, Respiratory insufficiency, Brachydactyly, Abnormal metacarpal morphology, Hypop... |
ORPHA:93262 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress, Shoulder girdle muscle weakness, Hyporeflexia of upper limbs, Achilles tend... |
ORPHA:2596 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Wheezing, T... |
ORPHA:60032 |
Hemifacial Hyperplasia |
|
Dental malocclusion, Hypoplasia of the maxilla |
OMIM:133900 |
Rapp-Hodgkin Syndrome |
|
Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Syndactyly... |
OMIM:129400 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
High palate, Macrocephaly, Slender finger, Cleft palate, Abnormality of the dentition, Short phil... |
ORPHA:251028 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental malocclusion, Narrow mouth, Broad long bones, Macrodontia of permanent maxillary central i... |
OMIM:257850 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Dens in dente, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Hypodontia, Hypoplastic verteb... |
OMIM:263540 |
Multiple Osteochondromas |
|
Abnormality of femur morphology, Hemothorax, Abnormal hand morphology, Abnormality of fibula morp... |
ORPHA:321 |
Xylt1-Cdg |
|
Short clavicles, Relative macrocephaly, Cleft palate, Flared metaphysis, Microcephaly, Long philt... |
ORPHA:370930 |
Van Maldergem Syndrome 2 |
|
High palate, Dental malocclusion, Short clavicles, Talipes equinovarus, Malar flattening, Tracheo... |
OMIM:615546 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
High palate, Respiratory distress, Multiple joint contractures, Slender long bones with narrow di... |
ORPHA:536467 |
Mandibulofacial Dysostosis With Alopecia |
|
Cleft palate, Everted lower lip vermilion, Glossoptosis, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:616367 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Anal atresia, Microcephaly, Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:93950 |
Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Metaphyseal cupping, Malar flattening, Cleft palate, Micromelia, ... |
ORPHA:85166 |
Pelvis-Shoulder Dysplasia |
|
Dislocated radial head, Talipes equinovarus, Cleft palate, Aplasia/Hypoplasia of the clavicles, M... |
ORPHA:2839 |
Seckel Syndrome 1 |
|
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, 11 pairs of ribs, ... |
OMIM:210600 |
Hartsfield Syndrome |
|
Cleft palate, Craniosynostosis, Respiratory insufficiency, Aplasia/Hypoplasia of the radius, Non-... |
ORPHA:2117 |
Marshall Syndrome |
|
Macrodontia of permanent maxillary central incisor, Cleft palate, Clinodactyly of the 4th finger,... |
OMIM:154780 |
X-Linked Centronuclear Myopathy |
|
High palate, Respiratory distress, Pneumonia, Respiratory failure requiring assisted ventilation |
ORPHA:596 |
Bartsocas-Papas Syndrome |
|
Narrow mouth, Cleft palate, Absent thumb, Micrognathia, Microcephaly, Synostosis of joints, Media... |
ORPHA:1234 |
Microcephaly-Capillary Malformation Syndrome |
|
Short distal phalanx of finger, Cleft palate, Brachydactyly, Hypoplasia of the maxilla, Clinodact... |
OMIM:614261 |
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Widely-spaced incisors, Hypoplasia of the maxilla, Progressive microcephaly, Thin upper lip vermi... |
OMIM:618737 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Macrocephaly, Large iliac wing, High, narrow palate, Cleft palate, Increased bone mineral density... |
ORPHA:2780 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy |
OMIM:604377 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Narrow mouth, Petechiae, Everted lower lip vermilion, Retrognathia, ... |
OMIM:608013 |
Distal Xq28 Microduplication Syndrome |
|
High palate, Asthma, Microcephaly, Short lingual frenulum, Hypoplasia of the maxilla, Clinodactyl... |
ORPHA:293939 |
Orofaciodigital Syndrome Type 2 |
|
High palate, Apnea, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Complete du... |
ORPHA:2751 |
Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the hand or of fingers of the hand, Ulnar deviation of the hand, Hypoplasia of... |
OMIM:122880 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Progeroid facial appearance, Abnormality of the dentition, S... |
ORPHA:3455 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crackles, Acute infectious pneumonia, Respiratory failure requiring assiste... |
ORPHA:264675 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... |
OMIM:249700 |
Saethre-Chotzen Syndrome |
|
Sleep apnea, Narrow palate, Clinodactyly of the 5th finger, Cleft palate, Open bite, Proximal rad... |
ORPHA:794 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
High palate, Respiratory distress, High, narrow palate, Prominent fingertip pads, Small hand, Lon... |
OMIM:612863 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
High palate, Craniosynostosis, Osteopenia, Genu valgum, Hypoplasia of the maxilla, Talipes equino... |
OMIM:182212 |
Craniosynostosis 2 |
|
Supernumerary tooth, Craniosynostosis, Brachydactyly, Triphalangeal thumb, Bicoronal synostosis, ... |
OMIM:604757 |
Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis |
ORPHA:306 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Microcephaly |
ORPHA:26792 |
Diamond-Blackfan Anemia 6 |
|
Cleft upper lip, Cleft palate, Tracheomalacia, Retrognathia, Micrognathia, Bifid uvula, Triphalan... |
OMIM:612561 |
Hemifacial Microsomia With Radial Defects |
|
Cleft palate, Short mandibular rami, Oral cleft, Triphalangeal thumb, Complete duplication of thu... |
OMIM:141400 |
Laryngotracheoesophageal Cleft |
|
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor |
ORPHA:2004 |
Craniolenticulosutural Dysplasia |
|
High palate, Wide mouth, Premature loss of teeth, Thin vermilion border, High iliac wing, Long ph... |
ORPHA:50814 |
Oculomaxillofacial Dysostosis |
|
Cleft palate, Adducted thumb, Abnormality of the dentition, Micrognathia, Camptodactyly of finger... |
ORPHA:1794 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Anal atresia, Cleft palate, Postaxial polydactyly, Small hand, Abnormality ... |
OMIM:300968 |
Achondrogenesis, Type Ii |
|
Cleft palate, Short ribs, Short tubular bones of the hand, Absent vertebral body mineralization, ... |
OMIM:200610 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Malar flattening, Cleft palate, Micrognathia, Hypoplasia of the maxilla,... |
ORPHA:79113 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Coxa vara, Clinodactyly of the 5th finger, Velopharyngeal insufficiency, 2-3 toe syndactyly, Clef... |
OMIM:614701 |
Meier-Gorlin Syndrome 4 |
|
Narrow mouth, Genu recurvatum, Micrognathia, Microcephaly, Slender long bone, Hypoplasia of the m... |
OMIM:613804 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Gingival overgrowth, Prominent median palatal raphe, Macroglossia, Finger j... |
ORPHA:363705 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the legs, Narrow mouth, Miscarriage, Talipes equinovarus, Limitation of joint mobility,... |
ORPHA:1865 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Recurrent fractures, Small abnormally formed scapulae, Tibial... |
ORPHA:140 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Tracheoesophageal fistula, Cough, Upper airway obstruction, Laryngotracheal... |
ORPHA:142 |
Chitayat Syndrome |
|
Respiratory distress, Tracheomalacia, Brachydactyly, Hallux valgus, Thick vermilion border |
OMIM:617180 |
Pallister W Syndrome |
|
Agenesis of central incisor, Radial bowing, Joint contracture of the hand, Pes cavus, Camptodacty... |
OMIM:311450 |
Congenital Tracheomalacia |
|
Apnea, Tracheomalacia, Decreased peak expiratory flow, Tracheoesophageal fistula, Respiratory ins... |
ORPHA:95430 |
Cohen Syndrome |
|
Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum, Macrodontia, Tape... |
ORPHA:193 |
Pitt-Hopkins Syndrome |
|
Wide mouth, Hiatus hernia, Short philtrum, Narrow foot, Finger clinodactyly, Tapered finger, Broa... |
ORPHA:2896 |
Larsen-Like Syndrome |
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Dental malocclusion, Clinodactyly of the 5th finger, Talipes equinovarus, Macrocephaly, Malar fla... |
OMIM:608545 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
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Alveolar ridge overgrowth, Drumstick terminal phalanges, Cleft palate, Thin vermilion border, Ret... |
OMIM:612938 |
Meier-Gorlin Syndrome 3 |
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Coxa vara, Narrow mouth, Microretrognathia, Talipes equinovarus, Tracheomalacia, Short ribs, Micr... |
OMIM:613803 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
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Ulnar radial head dislocation, Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
Acrofacial Dysostosis, Cincinnati Type |
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Flared lower limb metaphysis, Cleft palate, Retrognathia, Micrognathia, Femoral bowing, Microceph... |
OMIM:616462 |
Hypoglossia-Hypodactyly Syndrome |
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High palate, Anal atresia, Narrow mouth, Short distal phalanx of finger, Aplasia/Hypoplasia of th... |
ORPHA:989 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
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Respiratory distress |
OMIM:619099 |
Braddock-Carey Syndrome 1 |
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U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Everted lower lip vermilion, Sma... |
OMIM:619980 |
Postaxial Acrofacial Dysostosis |
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Malar flattening, Cleft palate, Hypoplasia of the radius, Micrognathia, Camptodactyly of finger, ... |
ORPHA:246 |
Infant Acute Respiratory Distress Syndrome |
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Cyanosis, Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring |
ORPHA:70587 |
Pyropoikilocytosis, Hereditary |
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Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis |
OMIM:266140 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the maxilla, Sho... |
OMIM:300106 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
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Respiratory distress, Narrow mouth, Tooth agenesis, Narrow palate, Cleft palate, Malar flattening... |
ORPHA:1555 |
Hydrolethalus Syndrome 2 |
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Cleft palate, Micrognathia, Postaxial hand polydactyly, Postaxial foot polydactyly, Preaxial foot... |
OMIM:614120 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
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Cleft lip, Osteoporosis, Clinodactyly, Cleft palate |
OMIM:614838 |
Brown-Vialetto-Van Laere Syndrome 1 |
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Respiratory distress, Ankle clonus, Respiratory insufficiency, Hand muscle atrophy, Tongue atroph... |
OMIM:211530 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
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Cleft palate, Craniosynostosis, Micrognathia, Brachydactyly, Arthrogryposis multiplex congenita |
OMIM:618265 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
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Dental crowding, Joint stiffness, Hypodontia, Cleft palate, Short long bone, Oligodontia, Microce... |
OMIM:619184 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
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Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
W Syndrome |
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Radial bowing, Pes cavus, Camptodactyly, Hypoplasia of the ulna, Pes planus, Broad uvula, Cubitus... |
ORPHA:2804 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Cleft palate, Abnormally ossified vertebrae, Osteopenia, Abnormality of the pubic bone, Micromeli... |
ORPHA:2636 |
Myhre Syndrome |
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Joint stiffness, Narrow mouth, Large iliac wing, Cleft palate, Abnormal metaphysis morphology, Th... |
ORPHA:2588 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
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Respiratory distress, Thigh hypertrophy, Calf muscle hypertrophy, Microcephaly, Cough, Dyspnea, T... |
ORPHA:86812 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
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Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Cleft palate, Micrognathia, Small thenar emine... |
OMIM:239800 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Exertional dyspnea, Cyanosis, Microcephaly |
OMIM:250800 |
Brachytelephalangic Chondrodysplasia Punctata |
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Short distal phalanx of finger, Asthma, Calcaneal epiphyseal stippling, Abnormal ossification inv... |
ORPHA:79345 |
Dental Anomalies And Short Stature |
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Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla, Mandibular prognathia, ... |
OMIM:601216 |
Treacher-Collins Syndrome |
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High palate, Wide mouth, Cleft palate, Tracheoesophageal fistula, Abnormality of the dentition, B... |
ORPHA:861 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
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High palate, Flexion contracture, Thin vermilion border, Arachnodactyly, Long philtrum, Broad hal... |
ORPHA:481152 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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