Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Aplasia/Hypoplasi... |
ORPHA:141152 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... |
OMIM:147891 |
Perching Syndrome |
|
Respiratory distress, Cyanosis, High palate, Camptodactyly, Joint contracture |
OMIM:617055 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Neonatal respiratory dis... |
OMIM:602471 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus |
OMIM:600121 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Prominent superficial... |
ORPHA:75508 |
Pierre Robin Syndrome |
|
Neonatal respiratory distress, Micrognathia, Pierre-Robin sequence, Upper airway obstruction, Cle... |
OMIM:261800 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate... |
OMIM:311895 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Swan neck-like deformities of the fingers, Microcephaly, Asthma, Coxa vara, Contra... |
OMIM:616716 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypopl... |
OMIM:108720 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Micrognathia, Microcephaly, Dyspnea, Gingival overgrowth, Gingival fibromat... |
ORPHA:1832 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Dental crowding, Apnea, Micrognathia, Narrow mouth, Microglossia, Dental ma... |
OMIM:614669 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Isolated Pierre Robin Syndrome |
|
Neonatal respiratory distress, Micrognathia, Upper airway obstruction, Cleft palate, Glossoptosis |
ORPHA:718 |
Omodysplasia 2 |
|
Short humerus, Tented upper lip vermilion, Bilateral cleft lip, Micrognathia, Fibular hypoplasia,... |
OMIM:164745 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia |
OMIM:172880 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Rhizomelia, Micrognathia, Microcephaly, Flexion contracture, Submucous... |
OMIM:222765 |
Bullous Dystrophy, Hereditary Macular Type |
|
Microcephaly, Tapered finger, Short finger, Death in childhood, Acrocyanosis |
OMIM:302000 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short l... |
ORPHA:1423 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... |
OMIM:171480 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m... |
ORPHA:94068 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Cleft palate... |
OMIM:249710 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger,... |
OMIM:184260 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Devia... |
ORPHA:2831 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation, Short palm, Mal... |
ORPHA:93328 |
Neuralgic Amyotrophy |
|
Scapular winging, Respiratory insufficiency, Cleft palate, Narrow mouth, Acrocyanosis |
ORPHA:2901 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Orofa... |
ORPHA:1988 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Prematu... |
OMIM:156510 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Respiratory distress, Bowing of the long bones, Death in infancy, Micr... |
ORPHA:166272 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... |
ORPHA:56304 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Respiratory distress, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowi... |
OMIM:613848 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog... |
ORPHA:2878 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft... |
ORPHA:3104 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Microcephaly, Fibular hypoplasia, Aplasia/Hypo... |
OMIM:612447 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali... |
ORPHA:2141 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short femur, Fractured radius, Micrognathia, Multiple prenatal fractures, Decreased f... |
OMIM:616897 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Microcephaly, Postaxial hand polydactyly, Split hand, Abnormality of t... |
ORPHA:2491 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Micrognathia, Microcephaly, Cleft palate, Talipes equinovarus, Arthrogryposis... |
OMIM:616570 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Thin upper lip vermilion, Neonatal respiratory distress, Death in infancy, ... |
OMIM:615042 |
Achondroplasia |
|
Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora... |
OMIM:100800 |
Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Pursed lips, Shoulder flexion contracture, Camptodactyly of finger, Rocker botto... |
OMIM:619110 |
Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Cubitus valgus, Humeroradial synost... |
OMIM:612961 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Micrognathia, Microcephaly, Asthma, Tachypnea, Pn... |
ORPHA:2257 |
Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Abnormal cartilage ... |
OMIM:156550 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ... |
ORPHA:1190 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... |
ORPHA:3329 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... |
ORPHA:166016 |
Aase-Smith Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Trismus, Cleft palate, Apl... |
ORPHA:916 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Camptodactyly of finger, Cleft palate, Respiratory insufficiency, Restricti... |
OMIM:614399 |
Atelosteogenesis Type Iii |
|
Micrognathia, Short tubular bones of the hand, Knee dislocation, High palate, Short tibia, Verteb... |
ORPHA:56305 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Sandal gap, Micromelia, Micrognathia, Bifid humerus, Lacunar halos around chond... |
OMIM:256050 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Micrognathia, Microcephaly, Wide mouth, Widely spaced teeth, Clinodactyly |
OMIM:300934 |
Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Micrognathia, Tibial bowing, Cone-shaped epiphyses of the phalanges of ... |
OMIM:309350 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress, Limitation of joint mobility |
ORPHA:2680 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... |
OMIM:619751 |
Diaphanospondylodysostosis |
|
Respiratory distress, Missing ribs, Cleft palate, Narrow pelvis bone, Absent or minimally ossifie... |
ORPHA:66637 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Relative mac... |
OMIM:239000 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Clin... |
OMIM:117650 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M... |
OMIM:227270 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Foot oligodactyly, Amelia |
OMIM:601357 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Abnormality of the dentition, Osteolysis, Short distal phalanx of finger |
ORPHA:2776 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Short humerus, Thin upper lip vermilion, Short femur, Rhizomelia, Sandal ga... |
OMIM:607143 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Split hand, Cleft palate, High palate... |
OMIM:246560 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Microcephaly, Macrocephaly, H... |
ORPHA:85279 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Rocker bottom foot, Micrognathia, High palate, Prenatal death, Camptodactyly, N... |
OMIM:618393 |
Cleft Palate-Lateral Synechia Syndrome |
|
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia |
ORPHA:2016 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Moebius Syndrome |
|
Respiratory distress, Syndactyly, Brachydactyly, Pes planus, Micrognathia, Abnormality of the den... |
OMIM:157900 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Abnormal morphology of uln... |
ORPHA:1307 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea, Secondary microcephaly |
OMIM:610992 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th... |
ORPHA:2631 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Auriculocondylar Syndrome |
|
Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of t... |
ORPHA:137888 |
Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Rocker bottom foot, Ankle flexion contracture, Micrognathi... |
ORPHA:1143 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ... |
ORPHA:3201 |
Catel-Manzke Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th... |
OMIM:616145 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Smooth philtrum, Respiratory distress, Ankle flexion contracture, Micrognathia, High, narrow pala... |
OMIM:608799 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Joint stiffness, Hypoplasia of the maxilla, Non-mi... |
ORPHA:245 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... |
OMIM:600373 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Single transverse palmar crease, Rocker bottom foot, Micrognathia, Respiratory insufficiency due ... |
OMIM:611890 |
Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ... |
OMIM:277170 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Diffuse palmoplantar hyperkeratosis, Acrocyanosis |
ORPHA:86918 |
Keipert Syndrome |
|
Broad hallux phalanx, Tented upper lip vermilion, Exaggerated cupid's bow, Short hallux, Aplasia/... |
ORPHA:2662 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre... |
ORPHA:3098 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Microcephaly, Submucous cleft hard ... |
ORPHA:2521 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... |
ORPHA:93333 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot, Malar flattening |
OMIM:183700 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious... |
OMIM:617102 |
Cranioectodermal Dysplasia 1 |
|
Single transverse palmar crease, High, narrow palate, Ectodermal dysplasia, High palate, Widely s... |
OMIM:218330 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Micrognathia, Upper airway obstruction, High palate, Hypodontia, Narrow mou... |
OMIM:612776 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Knee dislocation, High palate, Amelogenesis imperfecta, Micr... |
OMIM:618363 |
Catifa Syndrome |
|
Delayed eruption of teeth, Cleft lip, Asthma, Cleft palate, Mild microcephaly, Increased overbite... |
OMIM:618761 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Proximal placement of thumb, Absent radius, Esophageal atresia, Tracheoesophageal ... |
OMIM:314390 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... |
ORPHA:93307 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Increased suscept... |
OMIM:602080 |
Atelosteogenesis, Type Iii |
|
Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Elbow dislocation, Tombstone-shaped proximal... |
OMIM:108721 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Respiratory distress, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Ove... |
OMIM:619793 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Single transverse palmar crease, Hypoplasia of the maxilla, Orofacial cleft, Sho... |
ORPHA:915 |
Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm... |
OMIM:300244 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Hitchhiker thumb, Micrognathia, Recurrent patellar dislocation, Capitate-hamate... |
OMIM:614078 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... |
ORPHA:2496 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Open bite, Hypopla... |
ORPHA:1248 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Dental crowding, Micrognathia, Abnormality of the dentit... |
ORPHA:776 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Craniosynostosis, Micrognathia, Micromelia, Elbow ... |
ORPHA:93329 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota... |
ORPHA:93259 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... |
ORPHA:1350 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Adducted Thumbs Syndrome |
|
Craniosynostosis, Microcephaly, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, ... |
OMIM:201550 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... |
ORPHA:750 |
Orofaciodigital Syndrome Type 10 |
|
Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ... |
ORPHA:2756 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Absent Achilles refle... |
OMIM:620011 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Osteoarthritis, Cleft palate, Glossoptosis, Abnormal metacarpal morphology, Malar f... |
ORPHA:166100 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Weakness of the intrinsic hand muscles, Weakness of ... |
ORPHA:98913 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... |
ORPHA:1540 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... |
ORPHA:971 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Humeroradial synostosis, Absent ve... |
OMIM:134780 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, High palate, Short phalanx of finger, Bifid uvula, Dislocated radial head, Joint laxi... |
OMIM:612350 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Crowded maxillary inc... |
ORPHA:397973 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Malar flattening, Micrognathia, Limited kn... |
OMIM:258315 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Ulnar deviation of the hand, Ankle swelling, Micrognathia, Wrist swelling, Hypoplasia... |
OMIM:166300 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hyperflexibility, Abnormal epiphys... |
ORPHA:90653 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Short Stature, Brussels Type |
|
Microretrognathia, Delayed epiphyseal ossification, Calcification of cartilage, Macrocephaly |
ORPHA:2867 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, B... |
OMIM:218600 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Primary microcephaly |
ORPHA:171703 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Progeroid facial appearance, Hypoplasia of the maxilla, Genu valgum, Slender long bon... |
OMIM:608154 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu... |
OMIM:602418 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Arachnodactyly, Long foot, Micrognathia, Microcephaly, High, narrow palate,... |
ORPHA:2707 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finge... |
OMIM:119600 |
Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Upper limb muscle hypoplasia, Sy... |
OMIM:607323 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi... |
OMIM:210710 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Microcephaly, Cleft palate, Orofacial cleft, Widely-space... |
OMIM:601349 |
Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j... |
ORPHA:2741 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Delayed eruption o... |
OMIM:620099 |
Choanal Atresia |
|
Respiratory distress, Cyanosis, Craniosynostosis, Upper airway obstruction, Polydactyly, Tracheom... |
ORPHA:137914 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot,... |
OMIM:271225 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Apnea, Micrognathia, Ankylosis, Narrow mouth, Dental malocclusion, Cleft palate,... |
OMIM:602483 |
Acrodysostosis |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the r... |
ORPHA:950 |
Osteoglophonic Dysplasia |
|
Osteopenia, Respiratory distress, Mandibular prognathia, Hypoplasia of the maxilla, Short metatar... |
OMIM:166250 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Limited elbow movement, Hypoplasia of the odontoid process, Pierre-Robin se... |
OMIM:183900 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... |
ORPHA:166119 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Short humerus, Short metacarpal, Micrognathia, Narrow mouth, Humeroradial s... |
ORPHA:3404 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... |
ORPHA:1106 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Micrognathia |
OMIM:300580 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Syndactyly, Neonatal respiratory distress, Proximal placement of thumb, Mic... |
OMIM:217980 |
Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... |
ORPHA:2302 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... |
ORPHA:1302 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flexion contractu... |
OMIM:224690 |
Tetrasomy 5P |
|
Respiratory distress, Cyanosis, Overlapping toe, Short hallux, Micrognathia, Long fingers, Macroc... |
ORPHA:3309 |
Radio-Renal Syndrome |
|
Respiratory distress, Micromelia, Micrognathia, High, narrow palate, Dyspnea, Hypoplasia of the r... |
ORPHA:3015 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Radial bowing, Rhizomelia, Micromelia, Dumbbell-shaped long bone, Hypoplast... |
OMIM:151210 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Long palm, Arachnodactyly, Abnormality of the philtrum, Missing ribs, Aplas... |
ORPHA:2759 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Toe syndactyly... |
ORPHA:959 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Flatten... |
ORPHA:1856 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Micrognathia, Aglossia, Cleft palate, Narrow mouth, Tracheomalacia, Microgl... |
OMIM:202650 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Spondyloepiphyseal Dysplasia Tarda |
|
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... |
ORPHA:93284 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion... |
ORPHA:1145 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal sinu... |
OMIM:136760 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Tongue fasciculations, Respiratory insufficiency |
ORPHA:238329 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... |
ORPHA:1275 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Neonatal respiratory distress, Bowed humerus, Short lingual frenul... |
OMIM:619479 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Long palm, Hypoplasia of the maxilla, High palate, Macrocephaly, Long foot |
OMIM:300676 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Short femur, Dental crowding, Ta... |
OMIM:300990 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Thin upper lip vermilion, Respiratory distress, Micrognathia, Deep philtrum, Dental m... |
ORPHA:329178 |
20P12.3 Microdeletion Syndrome |
|
Broad hallux phalanx, Hypoplasia of the maxilla, Macrocephaly, Narrow mouth, Malar flattening, Br... |
ORPHA:261295 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Pycnodysostosis |
|
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi... |
ORPHA:763 |
Waardenburg Syndrome Type 3 |
|
Tented upper lip vermilion, Camptodactyly of finger, Joint stiffness, Microcephaly, Abnormal fing... |
ORPHA:896 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Cyanosis, Single transverse palmar crease, Micrognathia, Microcephaly, ... |
ORPHA:3304 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Clubbing, R... |
OMIM:265120 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Recurrent fractures, ... |
OMIM:231070 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Micrognathia, Microcephaly, Abnormal foot morphology, Flexion contracture... |
OMIM:618186 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly ... |
ORPHA:2554 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis, Progressive microcephaly |
ORPHA:71277 |
Campomelic Dysplasia |
|
Respiratory distress, Irregular dentition, Apnea, Anterior tibial bowing, Micrognathia, Delayed e... |
OMIM:114290 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Macroglossia, High pala... |
ORPHA:254864 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Bowing of the long bones, Abnormal dental enamel morphology, Micr... |
ORPHA:1798 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Pes planus, Pelvic bone exostoses, Coxa valga, Hiatus hernia, Capita... |
OMIM:304150 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Joint contracture, Microcephaly |
OMIM:617977 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o... |
OMIM:268305 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Gingival... |
OMIM:616331 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Limb joint contracture, Craniosynostosis, Micrognathia, Ankle flexion contracture, Knee flexion c... |
ORPHA:284417 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Arachnodactyly, Micrognathia, Microcephaly, Cleft palate, Narrow mouth, Malar f... |
ORPHA:93946 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... |
OMIM:259600 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Short philtrum,... |
ORPHA:439822 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Congenital Myasthenic Syndrome |
|
Joint laxity, Microretrognathia, Congenital hip dislocation, Cyanosis, Sudden episodic apnea, Int... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Joint laxity, Microretrognathia, Congenital hip dislocation, Cyanosis, Sudden episodic apnea, Int... |
ORPHA:98914 |
Cohen Syndrome |
|
Pes planus, Short metacarpal, Single transverse palmar crease, Micrognathia, Tapered finger, High... |
OMIM:216550 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough |
OMIM:263000 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... |
OMIM:610921 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... |
ORPHA:1263 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Microcephaly, Micrognathia, Thin vermilion border, Short philtrum |
ORPHA:261304 |
Hereditary Methemoglobinemia |
|
Microcephaly, Lip discoloration, Cyanosis, Exertional dyspnea |
ORPHA:621 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ... |
OMIM:600920 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, High palate, Neonatal death, Retrognathia, Joint hypermob... |
OMIM:300219 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Tapered finger, Micrognathia, Microcephaly, Cleft palate, Shor... |
OMIM:181180 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... |
ORPHA:93316 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Arthrogryposis multiplex congenita, Natal tooth, Cleft palate, Abnormal mandible morphology |
OMIM:217150 |
Martsolf Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Short philtrum, Finger... |
OMIM:212720 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Thin upper lip vermilion, Progressive microcephaly, Long philtrum |
OMIM:614741 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio... |
OMIM:215140 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota... |
ORPHA:93260 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition |
OMIM:216300 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Short humerus, Short femur, Apnea, Microcephaly, Flexion contracture, Orofa... |
ORPHA:17 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Tapered finger, Microcephaly, Long fingers, Thick lower lip vermilion, Joint contracture of the 5... |
OMIM:614407 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis, Talipes equinovarus, Microcephaly |
OMIM:150260 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Relative macrocephaly, Broad hallux, Sandal gap, Cleft soft palate, Micrognathia, Abnormality of ... |
OMIM:618529 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Pneumonia, Dyspnea, Clubbing, Inspiratory crackles, Hypoxemia, Restrictive ventilatory ... |
OMIM:610910 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening, Coronal cranios... |
OMIM:241310 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Pes planus, Micrognathia, Tapered finger, Narrow mouth, Carious teeth, Dyspnea, Elbow flexion con... |
OMIM:272430 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... |
OMIM:605282 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent... |
ORPHA:178303 |
High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Proximal placement of thumb, Micrognathia, Microcephaly, Preaxial hand poly... |
OMIM:610536 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Syndactyly, Relative macrocephaly, Micromelia, Postaxial polydactyly, Hypop... |
OMIM:617895 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Intestinal malrotation, Microcephaly, Genu valgum, Wide mouth, Macrocephaly, Joint h... |
OMIM:617798 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Respiratory distress, Apnea, Micromelia, Metaphyseal widening, Flexion contracture, K... |
ORPHA:3206 |
Gaucher Disease Type 2 |
|
Respiratory distress, Flexion contracture, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... |
OMIM:608022 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Polydactyly |
OMIM:615993 |
Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Ulnar deviation... |
ORPHA:1529 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Respiratory distress, Short femur, Recurrent fractures, Metaphyseal spurs, Femoral bo... |
OMIM:618188 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... |
OMIM:610913 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Micrognathia, Cleft palate, Neonatal death, Retrognathia |
OMIM:615524 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Swollen lip, Angioedema, Erythema, Upper airway obstruction, ... |
ORPHA:100057 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna... |
OMIM:165590 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wrist flexion c... |
OMIM:268300 |
Arthrogryposis, Distal, Type 3 |
|
Decreased hip abduction, Congenital hip dislocation, Camptodactyly of finger, Single transverse p... |
OMIM:114300 |
Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, High palate, Widely spaced teeth, Advanced eruption of teeth, Short me... |
ORPHA:192 |
Desbuquois Dysplasia 2 |
|
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Knee dislocation, Short p... |
OMIM:615777 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ... |
OMIM:201000 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... |
ORPHA:1452 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Abnormal epiphysis morpholog... |
ORPHA:226313 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,... |
OMIM:251230 |
Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia |
ORPHA:99772 |
Aarskog-Scott Syndrome |
|
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Pes planus, Single transverse ... |
OMIM:305400 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Flexion contracture, Downturned corners of mouth, Genu varum, Long toe, Prematurely... |
OMIM:264090 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Edema of the dorsum of feet, Tapered finger, Microcephaly, Flexion contract... |
ORPHA:544503 |
Orofaciodigital Syndrome Type 2 |
|
Apnea, Micrognathia, Complete duplication of hallux phalanx, Tachypnea, Finger clinodactyly, High... |
ORPHA:2751 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Prematurely aged... |
ORPHA:3342 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Elbow dislocation, Hypoplasia of the maxilla, Irregular femoral epiphysis, Patellar... |
OMIM:613805 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Mandibular prognathia, Knee contracture, Respiratory fail... |
OMIM:620278 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... |
ORPHA:2414 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Brachydactyly, Micrognathia, Diastema, Hypoplasi... |
OMIM:300534 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Apnea, Micrognathia, Deep phil... |
ORPHA:314655 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Temporomandibular joint ... |
OMIM:164900 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Cone-shaped epiphyses of the phalanges of the hand, Short 4t... |
ORPHA:420794 |
Ollier Disease |
|
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... |
ORPHA:296 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Gingival overgrowth, Rhizomelic arm s... |
ORPHA:508542 |
Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate, Micrognathia, Microcephaly, Limitation of joint mobility, Os... |
ORPHA:99742 |
Occipital Horn Syndrome |
|
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormal... |
ORPHA:198 |
Lowry-Maclean Syndrome |
|
Osteopenia, Single transverse palmar crease, Craniosynostosis, Micrognathia, Delayed eruption of ... |
ORPHA:2409 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,... |
ORPHA:957 |
Double Outlet Right Ventricle |
|
Cyanosis, Intestinal malrotation, Abnormality of cartilage of external ear, Submucous cleft hard ... |
ORPHA:3426 |
Tarp Syndrome |
|
Finger syndactyly, Cyanosis, Apnea, Single transverse palmar crease, Rocker bottom foot, Microgna... |
ORPHA:2886 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Cyanosis, Talipes, Postaxial polydactyly... |
OMIM:619879 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Bifid uvula, Cleft palate, Micrognathia |
OMIM:606164 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Respiratory distress, Congenital hip dislocation, Single transverse palmar crease... |
ORPHA:508488 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Accessory oral frenulum, Hamartoma of tongue... |
OMIM:258860 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Large tarsal bones, Micrognathia, Premature osteoarthritis, Flexion contrac... |
OMIM:215150 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening... |
ORPHA:536467 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Epistaxis, Microcephaly, Metatarsus adductus, Hypoplasia... |
ORPHA:293939 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Hypoplasia of the maxill... |
OMIM:619142 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, High palate, Pneumonia |
ORPHA:596 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Respiratory insufficiency, Abnormal metacarpal morphology, Malar flatt... |
ORPHA:93262 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Respiratory distress, Rocker bottom foot, Primary microcephaly, Adducted thumb |
ORPHA:89844 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
Myopathy And Diabetes Mellitus |
|
Hyporeflexia of upper limbs, Achilles tendon contracture, Shoulder girdle muscle weakness, Respir... |
ORPHA:2596 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:601390 |
Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Aplasia/hypoplasia of the e... |
ORPHA:485 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Hyperextensibility of the finger joints, Thin upper lip vermilion, Arachnodactyly, ... |
OMIM:309520 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... |
ORPHA:2712 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Scapular winging, Neonatal respiratory distress, Mandibula... |
ORPHA:98915 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of... |
ORPHA:2839 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Anal atresia, Microcephaly |
ORPHA:93950 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol... |
ORPHA:3429 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Advanced ossification of carpal... |
OMIM:269250 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee... |
OMIM:305620 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Smooth philtrum, Thin upper lip vermilion, Hypoplasia of the maxilla, Progressive microcephaly, W... |
OMIM:618737 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Pes planus, Carious teeth, Hypoplasia of the maxilla, High iliac wing,... |
ORPHA:50814 |
Orofaciodigital Syndrome Xix |
|
Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Accessory oral frenulum, C... |
OMIM:620107 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contracture, 2-3 toe syndactyly,... |
OMIM:218000 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Hypoplastic vertebral bodies, Downturned corners of mouth, Short philtrum, Premature ... |
ORPHA:3455 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Hy... |
ORPHA:264675 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration |
ORPHA:2004 |
W Syndrome |
|
Hypoplasia of the ulna, Pes planus, Radial bowing, Broad uvula, Elbow dislocation, Metatarsus add... |
ORPHA:2804 |
Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Palmoplantar hyperkerato... |
OMIM:601812 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Smooth philtrum, Broad hallux, Arachnodactyly, Hypoplasia of the maxilla, Flexion contracture, Hi... |
ORPHA:481152 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of... |
OMIM:200610 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Everted upper lip vermilion, Apnea, Micrognathia, Microcephaly, Everted low... |
OMIM:608013 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... |
OMIM:249700 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Clef... |
ORPHA:79113 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Micrognathia, High, narrow palate, Sub... |
ORPHA:2780 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hip contracture, Scapular winging, Tented upper lip vermilion, Limb joint c... |
OMIM:620369 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the... |
ORPHA:193 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Microcephaly |
ORPHA:26792 |
Acrofacial Dysostosis, Cincinnati Type |
|
Micrognathia, Hypoplasia of the maxilla, Microcephaly, Cleft palate, Femoral bowing, Flared lower... |
OMIM:616462 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Thin upper lip vermilion, Cutis marmorata, Single transverse palmar crease, Intestina... |
OMIM:614701 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Laryngotracheal stenosis, Tracheoesophageal fistula, Upper airway ... |
ORPHA:142 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to... |
ORPHA:989 |
Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Thick lower lip vermilion... |
OMIM:613804 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Microcephaly, Dyspnea, Calf muscle hypertrophy, Thigh hypertrophy, Cough, T... |
ORPHA:86812 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Short femur, Pneumothorax, Talipes equinovarus, Short tibia |
OMIM:620306 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Broad long bones, Dental crowding, Fifth finger distal phalanx clinoda... |
OMIM:257850 |
Chitayat Syndrome |
|
Hallux valgus, Respiratory distress, Thick vermilion border, Tracheomalacia, Brachydactyly |
OMIM:617180 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... |
ORPHA:95430 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Prominent superficial veins, Respiratory distress, Pyloric stenosis, Dy... |
ORPHA:363705 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation |
OMIM:264270 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Joint laxity, Respiratory distress, Postaxial polydactyly, Tapered finger, Abnormality of the den... |
OMIM:300968 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Craniosynostosis, Palmoplantar cutis gyrata, Narrow palate, Cleft palate, A... |
ORPHA:1555 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Absent sternal ossification, Micrognathia, Aplasia/Hypoplasia of the patella, ... |
OMIM:613803 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Respiratory distress, Tongue atrophy, Respiratory failure requiring assisted... |
OMIM:211530 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion |
ORPHA:50251 |
Pitt-Hopkins Syndrome |
|
Single transverse palmar crease, Short metatarsal, Narrow foot, Finger clinodactyly, Short philtr... |
ORPHA:2896 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Micrognathia, Downturned corners of mouth, High palate, Clinodactyly of the... |
ORPHA:177907 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... |
ORPHA:2636 |
Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Neonatal death, Abnormal cartilage matrix, Respiratory insufficiency |
OMIM:245650 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormality of bone mineral d... |
ORPHA:861 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Micrognathia |
OMIM:601809 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Sandal gap, High, narrow palate, Submucous cleft ... |
OMIM:612863 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... |
OMIM:601216 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Hypoplasia of t... |
ORPHA:2588 |
Shprintzen-Goldberg Syndrome |
|
Osteopenia, Pes planus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Cranio... |
ORPHA:2462 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:615546 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Short distal phalanx of finger... |
ORPHA:79345 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn... |
OMIM:616300 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, High ... |
OMIM:182212 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Dyspnea, Clubbing, Hypoxemia, Restrictive ventilatory defect, Cough, Decrease... |
ORPHA:747 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Microcephaly, Cyanosis, Exertional dyspnea |
OMIM:250800 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Rhizomelia, Tibial bowing, Femoral bowing, Macrocephaly, Res... |
OMIM:616482 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Esophageal Atresia |
|
Respiratory distress, Barrett esophagus, Cyanosis, Intestinal malrotation, Cleft lip, Laryngotrac... |
ORPHA:1199 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... |
OMIM:300106 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Delayed eruption of teeth, Mandibular prognathia, Short metacarpal, Brachydactyly, Hypoplasia of ... |
OMIM:101800 |
Acute Interstitial Pneumonia |
|
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... |
ORPHA:79126 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Recurrent fractur... |
ORPHA:140 |
Apert Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ma... |
ORPHA:87 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Natal tooth, Overlapping toe, Craniosynostosis, Gingival overgrowth, Narrow... |
OMIM:123790 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, Conical tooth, Cleft upper lip, Carious teeth, 2-3 toe cutaneous syndactyly, Velophar... |
OMIM:129400 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Tented upper lip vermilion, Overlapping toe, Flexion contracture, High pala... |
OMIM:619383 |
Marshall Syndrome |
|
Micrognathia, Abnormality of the dentition, Hypoplasia of the maxilla, Osteoarthritis, Hypoplasti... |
ORPHA:560 |
Microcephaly-Capillary Malformation Syndrome |
|
Hypoplasia of the maxilla, Cleft palate, Clinodactyly, Short distal phalanx of finger, Progressiv... |
OMIM:614261 |
Saethre-Chotzen Syndrome |
|
Proximal radio-ulnar synostosis, Finger syndactyly, Hallux valgus, Brachydactyly, Craniosynostosi... |
ORPHA:794 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Hypoplasia of the maxilla, Thick vermilion border, Biparietal narrowing, Long ... |
ORPHA:228396 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Birk-Barel Syndrome |
|
Microretrognathia, Reduced subcutaneous adipose tissue, Tented upper lip vermilion, Single transv... |
OMIM:612292 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Death in infancy, Abnormal mor... |
ORPHA:570 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Retinal telangiectasia, Hypoplasia of the maxilla, Micrognathia, Microceph... |
OMIM:620157 |
Pachyonychia Congenita |
|
Respiratory distress, Natal tooth, Angular cheilitis, Palmoplantar keratoderma, Palmoplantar hype... |
ORPHA:2309 |
Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
Crouzon Syndrome |
|
Hypoplasia of the maxilla, Respiratory insufficiency, Narrow palate, Multiple suture craniosynost... |
ORPHA:207 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Micrognathia, Osteo... |
ORPHA:740 |
Craniosynostosis 2 |
|
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Triphalangeal th... |
OMIM:604757 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly |
OMIM:614526 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Microretrognathia, Angulated humerus, Bowing of the long bones, Rhizomelia, Recurrent... |
OMIM:616229 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, C... |
ORPHA:2769 |
Nablus Mask-Like Facial Syndrome |
|
Thin upper lip vermilion, Sandal gap, Single transverse palmar crease, Craniosynostosis, Tapered ... |
OMIM:608156 |
Trisomy 8Q |
|
Camptodactyly of finger, Micrognathia, Joint stiffness, Non-midline cleft lip, Bone cyst, Orofaci... |
ORPHA:1752 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Abnorma... |
ORPHA:438216 |
Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Toe syndactyly, Aplastic ... |
ORPHA:1512 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Clubbing of fingers, Gingival bleeding, Volvulus, Bruising susceptibility, Subcutaneous... |
ORPHA:335 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Vertebr... |
OMIM:139210 |
Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Micrognathia, Re... |
OMIM:609465 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Cyanosis, Short lingual frenulum, Midgut malrotation, Osteoporosis, Cleft palate |
ORPHA:2326 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Pes planus, Microcephaly |
OMIM:618302 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Joint stiffness, Hypoplasia of the maxilla, Broad skull, Broad palm, Narrow pal... |
OMIM:277600 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
Hydrolethalus |
|
Tracheal atresia, Micromelia, Micrognathia, Postaxial hand polydactyly, Submucous cleft hard pala... |
ORPHA:2189 |
Larsen Syndrome |
|
Finger syndactyly, Brachydactyly, Craniosynostosis, Accessory carpal bones, Cleft palate, Respira... |
ORPHA:503 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... |
ORPHA:36238 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Conical tooth, Cleft upper lip, Hypoplasia of the maxilla, 2-3 toe synd... |
OMIM:106260 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Small hand, Downturned corners of mouth, Wide mouth, High ... |
OMIM:618779 |
Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Palmoplan... |
OMIM:615108 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress, Metaphyseal sclerosis, Metaphyseal chondrody... |
OMIM:260400 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... |
ORPHA:2658 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... |
ORPHA:2879 |
Spondylocarpotarsal Synostosis Syndrome |
|
Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Scapular winging, Short metacarpal, ... |
OMIM:272460 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, High palate, Inspiratory stridor, Irregular respiration |
OMIM:604377 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Dyspnea, Hemothorax, Pedal edema, Hypoxemia, Clubbing of fingers, Elevated pulmonary ar... |
ORPHA:199241 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Respiratory distress, Bilateral single transverse palmar creases, Micromelia, S... |
ORPHA:50810 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Mandibular aplasia, Microglossia, Respiratory distress, Narrow mouth |
ORPHA:990 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Intestinal malrotation, Respiratory distress |
ORPHA:2140 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Micromelia, Micrognathia, Microcephaly, Respiratory insufficiency, Shor... |
OMIM:224410 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Short distal phalanx of finger |
OMIM:300266 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Raine Syndrome |
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Mandibular prognathia, Micromelia, Micrognathia, High palate, Neonatal death, Microdontia, Long h... |
OMIM:259775 |
Andersen-Tawil Syndrome |
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Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi... |
ORPHA:37553 |
Schilbach-Rott Syndrome |
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Micrognathia, Microcephaly, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger... |
OMIM:164220 |
Obesity-Hypoventilation Syndrome |
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Hypoventilation, Cyanosis |
OMIM:257500 |
Oromandibular Dystonia |
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Respiratory distress, Abnormal lip morphology, Abnormal mandible morphology, Abnormality of the t... |
ORPHA:93958 |
Hereditary Angioedema Type 1 |
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Respiratory distress, Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dyspnea, U... |
ORPHA:100050 |
Branchioskeletogenital Syndrome |
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Amelia involving the lower limbs, Mandibular prognathia, Unilateral cleft palate, Craniosynostosi... |
ORPHA:1299 |
Kagami-Ogata Syndrome |
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Coxa valga, Micrognathia, Long fingers, Hypoplasia of the maxilla, Flexion contracture, Long phil... |
OMIM:608149 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
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Cyanosis, Apnea, Microcephaly, Protruding tongue, Hand clenching |
OMIM:619580 |
Cowden Syndrome 6 |
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Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Palmoplan... |
OMIM:615109 |
Branchiogenic-Deafness Syndrome |
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Branchial cyst, Branchial fistula, Trismus, Abnormal foot morphology, Submucous cleft hard palate... |
OMIM:609166 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
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Acrocyanosis, Joint stiffness |
ORPHA:2400 |
Cerebrofacioarticular Syndrome |
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Osteopenia, Syndactyly, Irregular dentition, Anal stenosis, Micrognathia, Hypoplasia of the maxil... |
ORPHA:314679 |
Weill-Marchesani Syndrome 2 |
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Short metacarpal, Joint stiffness, Broad metatarsal, Hypoplasia of the maxilla, Broad skull, Elbo... |
OMIM:608328 |
Hereditary Bullous Dystrophy, Macular Type |
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Pneumonia, Microcephaly, Tapered finger, Short finger, Acrocyanosis |
ORPHA:1867 |
Cryofibrinogenemia, Familial Primary |
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Acrocyanosis |
OMIM:123540 |
Microcephaly 30, Primary, Autosomal Recessive |
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Thin upper lip vermilion, Cleft soft palate, Tracheal stenosis, Pierre-Robin sequence, Primary mi... |
OMIM:620183 |
Mucopolysaccharidosis-Plus Syndrome |
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Respiratory distress, Microcephaly, Metaphyseal widening, Flexion contracture, Clubbing, Recurren... |
OMIM:617303 |
Benign Familial Neonatal Epilepsy |
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Circumoral cyanosis, Apnea |
ORPHA:1949 |
Malaria |
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Respiratory distress |
ORPHA:673 |
Dravet Syndrome |
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Pes planus, Pes valgus, Limited knee extension, Cyanotic episode, Tibial torsion |
ORPHA:33069 |
Congenital Disorder Of Glycosylation, Type Ix |
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Respiratory distress, Microcephaly, Death in childhood |
OMIM:615597 |
Gorlin-Chaudhry-Moss Syndrome |
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Abnormality of the dentition, Hypoplasia of the maxilla, Abnormal foot morphology, Oligodontia, A... |
ORPHA:2095 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Short humerus, Microcephaly, Short femur, Tapered finger |
OMIM:618367 |
Meconium Aspiration Syndrome |
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Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
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Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ... |
OMIM:618019 |
Bent Bone Dysplasia Syndrome 2 |
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