Perching Syndrome |
|
Respiratory distress, Cyanosis, Feeding difficulties, High palate, Dysphagia |
OMIM:617055 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... |
OMIM:128980 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Nasogastric tube feeding in infancy, Dyspnea, Upper airway obstruction, Cle... |
ORPHA:141152 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... |
ORPHA:3232 |
Congenital Pancreatic Cyst |
|
Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting |
ORPHA:313906 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Apnea, Intercostal retractions, Wheezing, Feeding difficulties, S... |
ORPHA:137935 |
Pierre Robin Syndrome |
|
Neonatal respiratory distress, Feeding difficulties in infancy, Pierre-Robin sequence, Upper airw... |
OMIM:261800 |
Trehalase Deficiency |
|
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Feeding difficulties, Decreased intestinal t... |
OMIM:620045 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms, Feeding difficulties |
OMIM:616341 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea, Dental crowding, Micrognathia, Glossoptosis, Mandibular condyle apla... |
OMIM:614669 |
Primary Effusion Lymphoma |
|
Dyspnea, Abdominal distention, Pleural effusion, Abdominal pain |
ORPHA:48686 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Impaired oropharyngeal swallow ... |
ORPHA:2004 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency, Cleft palate, Narrow mouth |
ORPHA:2901 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Cough, Inability to walk, Nasogastric tube fe... |
ORPHA:90117 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea, Feeding difficulties |
OMIM:610992 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... |
ORPHA:103907 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Stapes ankylosis, Thin upper lip vermilion, Cutis marmorata, Intestinal malrotation, Velopharynge... |
OMIM:614701 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Posteriorly rotated ears, Micrognathia, Dyspnea, Gingival fibromatosis, Gin... |
ORPHA:1832 |
Symphalangism, Proximal, 1A |
|
Carpal synostosis, Stapes ankylosis, Tarsal synostosis, Metacarpophalangeal synostosis, Proximal ... |
OMIM:185800 |
High Altitude Pulmonary Edema |
|
Nausea and vomiting, Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Achalasia-Microcephaly Syndrome |
|
Mandibular prognathia, Achalasia, Macrotia, Micrognathia |
ORPHA:929 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Adiposis Dolorosa |
|
Abdominal distention, Constipation, Painful subcutaneous lipomas |
OMIM:103200 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Anorexia, Crackles, Nonproductive cough, ... |
ORPHA:1302 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Neonatal respiratory distress, Upper airway obstruction, Cleft palate |
ORPHA:718 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Congenital stapes ankylosis, Proximal/middle symphalangism of 5th finger, Fused... |
OMIM:184460 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... |
OMIM:619445 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Feeding difficulties in infancy, Respiratory insuffi... |
OMIM:605809 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte... |
OMIM:619751 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Cleft palate, Respiratory insufficiency, Restrictive ventilatory defect, Re... |
OMIM:614399 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Triple A Syndrome |
|
Ataxia, Sensorineural hearing impairment, Optic atrophy, Respiratory insufficiency, Achalasia, Mo... |
ORPHA:869 |
Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Conductive hearing impai... |
ORPHA:99772 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Feeding difficult... |
ORPHA:199306 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Dyspnea, Abdominal distention |
OMIM:174050 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Joint dislocation, Respiratory distress, Micrognathia, Feeding difficulties, Wide mouth, Widely s... |
OMIM:300934 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
Thyroid Hemiagenesis |
|
Macroglossia, Jaundice, Constipation, Abdominal distention |
ORPHA:95719 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Ataxia, Abdominal pain, Malabsorption, Abdominal distention, Gastr... |
OMIM:613662 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Tetrasomy 18P |
|
Low-set, posteriorly rotated ears, Narrow mouth, Thin vermilion border, Gait disturbance, Long ph... |
ORPHA:3307 |
Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Posteriorly rotated ears, Micrognathia, High palate, Prenatal death, Low... |
OMIM:618393 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Facial palsy, Congenital diaphragmatic hernia, Micrognathia, Cleft lip,... |
OMIM:301022 |
Choanal Atresia |
|
Respiratory distress, Cyanosis, Upper airway obstruction, Feeding difficulties, Choking episodes,... |
ORPHA:137914 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough |
OMIM:263000 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Congenital Myasthenic Syndrome |
|
Congenital hip dislocation, Gastroesophageal reflux, High palate, Frontalis muscle weakness, Wadd... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Congenital hip dislocation, Gastroesophageal reflux, High palate, Frontalis muscle weakness, Wadd... |
ORPHA:98914 |
Volvulus Of Midgut |
|
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... |
OMIM:193250 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Feeding difficulties in infancy, Malnutrition, Upper airway obstruction, Hi... |
OMIM:612776 |
Dystonia-Deafness Syndrome 1 |
|
Cleft upper lip, Sensorineural hearing impairment, Cleft palate, Pseudobulbar paralysis, Dysphagi... |
OMIM:607371 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis, Dysphagia |
OMIM:150260 |
Legg-Calvé-Perthes Disease |
|
Joint dislocation, Skeletal muscle atrophy, Cartilage destruction, Abnormality of the dentition |
ORPHA:2380 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... |
ORPHA:1201 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Hip dislocation, G... |
ORPHA:436174 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Feeding difficulties in infancy, Respiratory insufficiency, Tongue fasciculations, Respiratory di... |
ORPHA:238329 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abdominal pain, Abdominal distention, Diarrhea, Abnormal fear-induced behavior, Res... |
ORPHA:100924 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Cough, Sensorineural hearin... |
ORPHA:1018 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
2q33.1 deletion syndrome |
|
Feeding difficulties in infancy, High palate, Cleft palate |
DECIPHER:51 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Facial palsy, Micrognathia, Respiratory insufficiency due to muscle weaknes... |
OMIM:300580 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Nasogastric tube feedin... |
ORPHA:254864 |
Scleromyxedema |
|
Abnormality of the gastrointestinal tract, Aged leonine appearance, Hypoperistalsis, Narrow mouth... |
ORPHA:167635 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Aganglionic megacolon, Posteriorly rotated ears, Hypercapnia, Apnea, Central hyp... |
OMIM:209880 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Micrognathia, Abnormality of the gingiva, Anteriorly placed anus, Short phi... |
ORPHA:798 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
Carey-Fineman-Ziter Syndrome 2 |
|
Thin upper lip vermilion, Posteriorly rotated ears, Dental crowding, Micrognathia, High, narrow p... |
OMIM:619941 |
Auriculocondylar Syndrome |
|
Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, M... |
ORPHA:137888 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Broad-based gait, Ataxia, Apnea, Abdominal distention, Difficulty walking |
ORPHA:79097 |
Multiple Synostoses Syndrome 1 |
|
Carpal synostosis, Stapes ankylosis, Thin upper lip vermilion, Proximal/middle symphalangism of 5... |
OMIM:186500 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Cleft palate, Feeding diff... |
OMIM:600987 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Ataxia |
OMIM:619099 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... |
ORPHA:160148 |
Athyreosis |
|
Macroglossia, Constipation, Abdominal distention, Feeding difficulties |
ORPHA:95713 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Feeding difficulties in infancy, Abdominal distention, Macroglossia, Consti... |
ORPHA:226313 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Dysphagia, Cough, Pleural ... |
ORPHA:50251 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Akinesia, Respiratory failure, Death in childhood, Neonatal death |
OMIM:619334 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Hypoperistalsis,... |
OMIM:611376 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Feeding diff... |
ORPHA:596 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Broad-based gait, Flexion contracture of finger, Ataxia, Optic atrophy, Joint contracture of the ... |
OMIM:609033 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Mi... |
OMIM:611890 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Stapes ankylosis, Papilledema, Prominent metopi... |
OMIM:614188 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Sensorineural hearing impairment, Orofacial cleft, Macroglossia, Dyspha... |
ORPHA:79107 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Gastroesophageal reflux, Cough, Pu... |
ORPHA:2414 |
Chromosome 22Q11.2 Duplication Syndrome |
|
Abnormal pinna morphology, Micrognathia, Velopharyngeal insufficiency, High palate, Low-set ears |
OMIM:608363 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Malaria |
|
Nausea and vomiting, Gait imbalance, Respiratory distress |
ORPHA:673 |
Malignant Peritoneal Mesothelioma |
|
Dyspnea, Abdominal distention, Ileus, Abdominal pain |
ORPHA:168811 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... |
OMIM:265120 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis, Tarsal synostosis |
OMIM:617898 |
Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Cough, Dysphagia |
ORPHA:77260 |
Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Synovitis, Popl... |
OMIM:601492 |
Adducted Thumbs Syndrome |
|
High, narrow palate, Velopharyngeal insufficiency, Cleft palate, Respiratory insufficiency, High ... |
OMIM:201550 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Thin upper lip vermilion, ... |
OMIM:615042 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain |
ORPHA:168829 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Achalasia, Cutis marmorata, Livedo reticularis, Dysphagia |
OMIM:615750 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... |
OMIM:609166 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Swollen lip, Angioedema, Erythema, Upper airway obstruction, ... |
ORPHA:100057 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Choreoathetosis, Cyanosis, Ataxia, Central apnea |
ORPHA:71277 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Respiratory failure requiring assisted ventilation, Death in infancy, Respiratory insufficiency, ... |
OMIM:620265 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormal fifth cranial nerve morphology, Abnormality ... |
ORPHA:353253 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy, Feeding difficulties, Gastroesophageal reflux, Decreased ... |
OMIM:616974 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Achalasia, Acrocyanosis |
ORPHA:2400 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Accessory oral frenulum, Overfolded helix... |
ORPHA:79113 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased nerve conducti... |
OMIM:218000 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Ataxia,... |
OMIM:211530 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Intestinal edema, Abdominal pain, Abnormal soft palate morpho... |
ORPHA:100050 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co... |
OMIM:611369 |
Monosodium Glutamate Sensitivity |
|
Dyspnea, Nausea, Flushing |
OMIM:231630 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Sensorineural hearing impairment, Achalasia |
ORPHA:3239 |
Perry Syndrome |
|
Hypoventilation, Central hypoventilation, Akinesia, Respiratory insufficiency, Inappropriate beha... |
OMIM:168605 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
Achondrogenesis, Type Ib |
|
Abdominal distention, Stillbirth, Respiratory insufficiency |
OMIM:600972 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Feeding difficulties in infancy, Respiratory insufficiency due to muscle we... |
ORPHA:254875 |
Catifa Syndrome |
|
Delayed eruption of teeth, Cleft lip, Asthma, Cleft palate, Gait disturbance, Increased overbite,... |
OMIM:618761 |
Hypoadrenocorticism, Familial |
|
Feeding difficulties in infancy, Cyanosis, Vomiting, Apnea |
OMIM:240200 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Bilateral conductive hearing impairment, Cl... |
OMIM:216300 |
Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... |
ORPHA:2302 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Micrognathia, Asthma, Tachypnea, Pneumothorax, Pa... |
ORPHA:2257 |
Acquired Methemoglobinemia |
|
Respiratory distress, Cyanosis, Abdominal pain, Dyspnea, Hypoxemia, Vomiting |
ORPHA:464453 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Qazi-Markouizos Syndrome |
|
High, narrow palate, Abdominal distention, Hypoplasia of teeth, Chronic constipation, Open mouth,... |
ORPHA:3010 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... |
OMIM:610921 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia, Falls |
ORPHA:240085 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Congenital hip dislocation, Telangiectasia of the skin, Micrognathia, Hydr... |
OMIM:616007 |
Osteogenesis Imperfecta, Type Iv |
|
Wormian bones, Otosclerosis, Dentinogenesis imperfecta, Hearing impairment |
OMIM:166220 |
Solar Urticaria |
|
Dyspnea, Abnormal tongue morphology, Angioedema, Wheezing, Urticaria, Abnormal lip morphology, De... |
ORPHA:97230 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... |
OMIM:610910 |
Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption |
OMIM:606824 |
Hereditary Methemoglobinemia |
|
Athetosis, Lip discoloration, Cyanosis, Exertional dyspnea |
ORPHA:621 |
Moebius Syndrome |
|
Respiratory distress, Abnormal pinna morphology, Micrognathia, Feeding difficulties in infancy, A... |
OMIM:157900 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Vomiting, Aggressive behavior |
OMIM:237310 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Microtia, Hypoplasi... |
OMIM:613717 |
Maculopapular Cutaneous Mastocytosis |
|
Abdominal pain, Dyspnea, Diarrhea, Erythema, Darier's sign, Dermatographic urticaria, Vomiting, G... |
ORPHA:79457 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Hy... |
ORPHA:264675 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Small intestinal dysmotility, Apnea, Feeding difficulties, Hypopnea, Chronic con... |
OMIM:619482 |
American Trypanosomiasis |
|
Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Dyspnea, Diarrhea, Co... |
ORPHA:3386 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis, Rectal prolapse, Feeding difficulties, Gastroesophageal reflux |
OMIM:619793 |
Congenital Myopathy 12 |
|
Death in infancy, Akinesia, Respiratory insufficiency due to muscle weakness, High, narrow palate... |
OMIM:612540 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Ankle flexion contracture, Micrognathia, Respiratory insuf... |
ORPHA:1143 |
Immunodeficiency 70 |
|
Celiac disease, Achalasia, Colitis, Recurrent sinusitis |
OMIM:618969 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... |
ORPHA:1435 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Orthostatic hypotension, Esophageal stenosis, Ataxia, Neonatal respiratory distress, Feeding diff... |
OMIM:615510 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia, Micrognathia, Aglossia, Cleft palate, Holoprosencephaly, Lo... |
OMIM:202650 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Dysdiadochokinesis, Gait disturbance, Dysphagia, Movement abnormality of th... |
ORPHA:98805 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Falls, Gait imbalance, Loss o... |
ORPHA:240094 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Ataxia, Apnea, Impulsivity, Protruding tongue, Aggressive behavior, Inability to walk, ... |
OMIM:619580 |
Orofaciodigital Syndrome Xix |
|
Underfolded helix, Cleft soft palate, Accessory oral frenulum, Carious teeth, Cupped ear, Additio... |
OMIM:620107 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Diarrhea, Chronic pulmonary obstruction, Pneumothorax, B... |
ORPHA:411703 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress, Peripheral axonal neuropathy, Inability to walk, Sensorineural hearing impa... |
ORPHA:2596 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Nipah Virus Disease |
|
Nausea and vomiting, Respiratory distress, Anorexia, Cough |
ORPHA:99825 |
Coffin-Siris Syndrome 11 |
|
Prominent metopic ridge, Cleft soft palate, Uplifted earlobe, Esophageal atresia, Downturned corn... |
OMIM:618779 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Crackles, Abdominal distention, Dyspnea, Chronic diarrhea, Asthma, Bron... |
OMIM:620233 |
Ovarian Fibroma |
|
Abdominal distention, Odontogenic keratocysts of the jaw, Pleural effusion, Abdominal pain |
ORPHA:314473 |
Tetrasomy 5P |
|
Respiratory distress, Cyanosis, Posteriorly rotated ears, Micrognathia, Wide anterior fontanel, H... |
ORPHA:3309 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... |
OMIM:610913 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Diarrhea, Feeding difficulties, Gait ataxia, Vomiting |
OMIM:612075 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Ataxia, Chronic diarrhea, Feeding difficulties, Acrocyanosis, Petechiae |
OMIM:602473 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Small intestinal dysmotility, Poor appetite, Abdominal pain, Atrophic muscularis propria, Abdomin... |
ORPHA:298 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Exaggerated cupid's bow, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Apnea... |
ORPHA:2131 |
Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Abdominal distention, Jaundice, Gastrointestinal dysmot... |
ORPHA:90051 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... |
OMIM:300048 |
Marcus-Gunn Syndrome |
|
Cleft lip, Abnormal ear morphology, Abnormal fifth cranial nerve morphology, Cleft palate |
ORPHA:91412 |
Intestinal Botulism |
|
Nausea and vomiting, Death in infancy, Respiratory insufficiency due to muscle weakness, Dyspnea,... |
ORPHA:178481 |
Treacher Collins Syndrome 3 |
|
Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair... |
OMIM:248390 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Ataxia, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding diffi... |
ORPHA:927 |
Osteogenesis Imperfecta, Type I |
|
Wormian bones, Otosclerosis, Dentinogenesis imperfecta, Hearing impairment |
OMIM:166200 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Mixed hearing impairment, Dental crowding, Cleft soft palate, Micrognat... |
OMIM:616331 |
Chiari Malformation Type Ii |
|
Cyanosis, Ataxia, Feeding difficulties, Dysphagia, Inspiratory stridor |
OMIM:207950 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Respiratory insufficiency, Conductive he... |
ORPHA:93262 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Everted upper lip vermilion, Apnea, Akinesia, Micrognathia, Narrow mouth, R... |
OMIM:608013 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Respiratory distress, Abnormal cranial nerve morphology, Holop... |
ORPHA:990 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Ataxia, Aggressive behavior, Hypoplasia of the maxilla, Inability to walk, Hip dislocation, Protr... |
ORPHA:481152 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abdominal distention, Protuberant abdomen, Death in infancy |
OMIM:277300 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... |
OMIM:277320 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Abdominal distention, Hypoperistalsis |
OMIM:619365 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Ataxia, Apnea, F... |
OMIM:618426 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Thin upper lip vermilion, Hypoplasia of the maxilla, Optic atrophy, Protruding ear, Smooth philtr... |
OMIM:618737 |
Letterer-Siwe Disease |
|
Stomatitis, Abdominal distention, Jaundice, Dyspnea |
OMIM:246400 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Tachypnea, Cardiorespiratory arrest, Feeding difficulties |
OMIM:620203 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Abdominal distention, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased... |
OMIM:608104 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Mixed hearing impairment, Posteriorly rotated ears, Micrognathia, Sensorine... |
OMIM:606164 |
Crouzon Syndrome |
|
Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Respiratory insufficiency, Multiple sutu... |
ORPHA:207 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Cleft palate, High palat... |
OMIM:246560 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Micrognathia, Feeding difficulties, Thin vermilion border, Short philtrum, ... |
ORPHA:261304 |
Dysostosis Multiplex, Ain-Naz Type |
|
Abdominal distention, Difficulty walking |
OMIM:619345 |
Congenital Myopathy 9A |
|
Death in infancy, Tongue fasciculations, Akinesia |
OMIM:618822 |
Fetal Akinesia Deformation Sequence |
|
Intestinal hypoplasia, Posteriorly rotated ears, Camptodactyly of finger, Akinesia, Micrognathia,... |
ORPHA:994 |
Meckel Syndrome, Type 8 |
|
Abdominal distention, Cleft palate, Cleft upper lip |
OMIM:613885 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Respiratory distress, Feeding difficulties, Low-set ears, Dysphagia, Agenesis ... |
ORPHA:89844 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Nausea and vomiting, Respiratory distress, Anorexia, Abdominal pain, Feeding difficulties, Choreo... |
ORPHA:79312 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Hypoplasia of the maxilla, Conductive hearing impairment, Hypoplastic frontal s... |
OMIM:136760 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Epistaxis, Impulsivity, Aggressive behavior, Hypoplasia of the maxilla, D... |
ORPHA:293939 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Inability to walk |
OMIM:617977 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Limb joint contracture, Micrognathia, Flexion contract... |
OMIM:618186 |
Achalasia-Microcephaly Syndrome |
|
Achalasia |
OMIM:200450 |
Fabry Disease |
|
Nausea and vomiting, Conjunctival telangiectasia, Telangiectasia of the skin, Angiokeratoma, Anor... |
ORPHA:324 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... |
ORPHA:2521 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Broad-based gait, Neonatal respiratory distress, Ataxia, Crackles, Asthma, ... |
OMIM:610978 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Tented upper lip vermilion, Inability to walk, Optic atrophy, Feeding diffi... |
OMIM:619383 |
Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia |
ORPHA:97285 |
Branchiootic Syndrome |
|
Branchial fistula, Facial palsy, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnorma... |
ORPHA:52429 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Supernumerary tooth, Abnormal antihelix morphology, Hypoplasia of th... |
ORPHA:3145 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis, Chronic otitis media, Agene... |
OMIM:619466 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... |
OMIM:617412 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Micrognathia, Dyspnea, High, narrow palate, Optic atrophy, Feeding difficul... |
ORPHA:2707 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Cyanosis, Gastrointestinal dysmotility, Optic atrophy, Choreoathetosis, Dysphagia, ... |
ORPHA:391428 |
Lethal Congenital Contracture Syndrome 8 |
|
Death in infancy, Flexion contracture, Facial diplegia, Distal amyotrophy, Distal arthrogryposis,... |
OMIM:616287 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Ankle flexion contracture, Micrognathia, Feeding difficulties in infancy, Craniosynostosis, Knee ... |
ORPHA:284417 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Ataxia, Abdominal pain, Feeding difficulties, Respiratory failure, Dysphagi... |
OMIM:620166 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Achalasia, Hearing impairment |
OMIM:221350 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... |
ORPHA:36238 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Ataxia, Ankle flexion contracture, Micrognathia, High, narrow palate, Optic... |
OMIM:608799 |
Bardet-Biedl Syndrome 16 |
|
Recurrent otitis media, Respiratory distress, Hearing impairment |
OMIM:615993 |
Synaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Mandibular prognathia, Abnormality of the knee, Respiratory distress, Hypoventilat... |
ORPHA:98915 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al... |
ORPHA:178320 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Abdominal pain, Productive cough, Nonproductive cou... |
ORPHA:454836 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Waddling gait, Respiratory distress, Abdominal pain, Dyspnea, Difficulty walking, Cough |
ORPHA:86812 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Tracheoesophageal fistula, Dysphagia, Upper airway obstruction, St... |
ORPHA:142 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Aarskog-Scott Syndrome |
|
Low-set, posteriorly rotated ears, Delayed eruption of teeth, Genu recurvatum, Camptodactyly of f... |
ORPHA:915 |
Lujan-Fryns Syndrome |
|
Dental crowding, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Abnormality of... |
ORPHA:776 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Abnormality of the dentition, Celiac disease, Interstitial pneumonitis, Polyarticular arthritis, ... |
OMIM:615952 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Optic nerve hypoplasia, Retinal telangiectasia, Micrognathia, Hypoplasia o... |
OMIM:620157 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Thyroid Hypoplasia |
|
Macroglossia, Jaundice, Constipation, Abdominal distention |
ORPHA:95720 |
Wolman Disease |
|
Nausea and vomiting, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea, Hepatic f... |
ORPHA:75233 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Thin upper lip vermilion, Micrognathia, Aggressive behavior, Tooth malposition, Fee... |
ORPHA:529962 |
Auriculocondylar Syndrome 3 |
|
Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ... |
OMIM:615706 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Prot... |
ORPHA:169186 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Craniosynostosis, Hearing abnormality, Hydrocephalus, Aplasia/Hypoplasia of... |
ORPHA:1555 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy |
ORPHA:103910 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Gastroesophageal reflux, Apnea |
ORPHA:1949 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal jo... |
ORPHA:1145 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Carious teeth, Flat acetabular roof, Widely spaced teeth, Thick vermilion b... |
OMIM:617102 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Thin upper lip vermilion, Long philtrum |
OMIM:614741 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Microtia, Flexion contracture, Congenital pyloric atresia |
OMIM:612138 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Gastrostomy tube feeding in infancy, Feeding difficulties... |
OMIM:620278 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Overfolded helix, Submucous cleft hard palate |
ORPHA:209908 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Death in infancy, Abnormality of the gastrointestinal tract, Intestinal malr... |
ORPHA:2241 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Meconium ileus, Respiratory insufficiency, Feeding difficulties, Difficulty walking |
OMIM:617239 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Posteriorly rotated ears, Facial palsy, Micrognathia, High, narrow pal... |
ORPHA:2780 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Posteriorly rotated ears, Cleft soft palate, Micrognathia, Abnormality of the dentition, Gingival... |
OMIM:618529 |
Diaphanospondylodysostosis |
|
Respiratory distress, Cleft palate |
ORPHA:66637 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Sensorineural he... |
ORPHA:2712 |
Lead Poisoning |
|
Delayed eruption of teeth, Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Asthma, A... |
ORPHA:330015 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the knee, Cleft soft palate, Micrognathia, Abnormality of the wrist, Nasogastric t... |
ORPHA:93316 |
8Q22.1 Microdeletion Syndrome |
|
Underfolded helix, Abnormal pinna morphology, Camptodactyly of finger, Craniosynostosis, Hypoplas... |
ORPHA:178303 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Aggressive behavior, Hypoplasia of the maxilla, Protruding ear, High palate |
ORPHA:85279 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal distention... |
ORPHA:92050 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bifid uvula, Cleft palate |
OMIM:258320 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... |
ORPHA:2919 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Conductive hearing impairment, Abnormal repetitive mannerisms, Oppos... |
ORPHA:580 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Akinesia, Multiple pterygia, Micrognathia, Cleft palate, Low... |
OMIM:253290 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Intestinal malrotation, Respiratory distress |
ORPHA:2140 |
Holocarboxylase Synthetase Deficiency |
|
Nausea and vomiting, Respiratory distress, Ataxia, Anorexia, Tachypnea |
ORPHA:79242 |
Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Micrognathia, Cleft palate, Neonatal dea... |
OMIM:615524 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Optic atrophy, Feeding difficulties |
ORPHA:26792 |
Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Enlarged joints, Tracheomalacia, Abnormal cartilage collag... |
OMIM:156550 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Prominent metopic ridge, Tented upper lip vermilion, Apnea... |
ORPHA:314655 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... |
OMIM:155310 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal radio-ulnar synostosis, Abnormal spaced incisors, Tarsal synostosis, Micrognathia, Hypop... |
ORPHA:363417 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Micrognathia, Cleft hard palate, Knee flexion contracture, Genu valgum, Fixed elbow flexion, Disl... |
ORPHA:166016 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal distention, J... |
OMIM:613070 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis... |
ORPHA:95430 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Bowel incontinence, Wide anterior fontanel, Hydrocephalus, R... |
OMIM:616482 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Natal tooth, Posteriorly rotated ears, Craniosynostosis, Feeding difficulti... |
OMIM:123790 |
Native American Myopathy |
|
Skeletal muscle atrophy, Muscle fiber atrophy, Micrognathia, Conductive hearing impairment, Abnor... |
ORPHA:168572 |
Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Sensorineural h... |
ORPHA:1529 |
Distal 17P13.1 Microdeletion Syndrome |
|
Limited elbow movement, Protruding ear, Hypoplasia of the zygomatic bone, High palate, Increased ... |
ORPHA:319171 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Death in infancy, Hypoventilation, Abdominal distention, Feeding difficulties, Gastroesophageal r... |
OMIM:620275 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Esophageal Atresia |
|
Respiratory distress, Feeding difficulties in infancy, Gastrointestinal dysmotility, Anorectal an... |
ORPHA:1199 |
Acute Interstitial Pneumonia |
|
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... |
ORPHA:79126 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Hydrocephalus, Protruding ear |
OMIM:618302 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Wide cranial sutures, Tented upper lip vermilion, Tracheomalacia, Micrognath... |
OMIM:601390 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Dysphagia |
OMIM:613561 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory... |
OMIM:614299 |
Arthrogryposis Multiplex Congenita 5 |
|
Optic disc pallor, Death in infancy, Neonatal respiratory distress, Akinesia, Micrognathia, Hip d... |
OMIM:618947 |
Peritoneal Cystic Mesothelioma |
|
Abdominal distention, Constipation, Abdominal pain |
ORPHA:168816 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Bifid... |
ORPHA:2554 |
Mirage Syndrome |
|
Hydrocephalus, Chronic diarrhea, Esophageal stricture, Gastroesophageal reflux, Aspiration pneumo... |
OMIM:617053 |
Spinocerebellar Ataxia 21 |
|
Ataxia, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Progressive cerebel... |
OMIM:607454 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Macroglossia, Flared elbow metaphyses, Micrognathia |
ORPHA:1423 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Lactose intolerance, Hyperactivity, Asthma, Wide mouth, Gait disturbance, Protuberant abdomen, Lo... |
ORPHA:457485 |
Nager Syndrome |
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Low-set, posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip... |
ORPHA:245 |
Anterior Cutaneous Nerve Entrapment Syndrome |
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Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastrointestinal tract... |
ORPHA:51890 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
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Respiratory distress, Neonatal respiratory distress, Abnormal pinna morphology, Micrognathia, Wid... |
OMIM:217980 |
Combined Oxidative Phosphorylation Defect Type 23 |
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Cyanosis, Feeding difficulties in infancy, Stridor, Respiratory failure, Paroxysmal dyspnea |
ORPHA:444013 |
Primary Hepatic Neuroendocrine Carcinoma |
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Anorexia, Abdominal distention, Diarrhea, Dyspnea, Episodic abdominal pain, Intermittent jaundice... |
ORPHA:100085 |
Hyperimmunoglobulinemia D With Periodic Fever |
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Gastrointestinal hemorrhage, Intestinal obstruction, Ataxia, Abdominal pain, Diarrhea, Erythema, ... |
ORPHA:343 |
Mercury Poisoning |
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Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Respiratory failure, Interstiti... |
ORPHA:330021 |
Distal Limb Deficiencies-Micrognathia Syndrome |
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Microretrognathia, Low-set, posteriorly rotated ears, Tarsal synostosis, Hypoplasia of the maxill... |
ORPHA:1307 |
Myotubular Myopathy With Abnormal Genital Development |
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Respiratory distress, Death in infancy, Feeding difficulties, High palate, Neonatal death |
OMIM:300219 |
Postencephalitic Parkinsonism |
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Akinesia, Abnormal respiratory system physiology, Dysphagia, Vomiting, Cough, Open mouth |
ORPHA:97349 |
Amish Lethal Microcephaly |
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Death in infancy, Cleft soft palate, Spina bifida, Micrognathia, Optic atrophy, Feeding difficult... |
ORPHA:99742 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Cyanosis, Exertional dyspnea |
OMIM:250800 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
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Respiratory distress, Micrognathia, Feeding difficulties in infancy, Esophageal atresia, Deep phi... |
OMIM:610536 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
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Respiratory distress, Peripheral axonal neuropathy, Axonal degeneration, Paradoxical respiration,... |
OMIM:620011 |
Tarp Syndrome |
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Low-set, posteriorly rotated ears, Broad-based gait, Cyanosis, Apnea, Micrognathia, Pierre-Robin ... |
ORPHA:2886 |
Apert Syndrome |
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Mandibular prognathia, Delayed eruption of teeth, Feeding difficulties in infancy, Esophageal atr... |
ORPHA:87 |
Meckel Syndrome 14 |
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Microretrognathia, Occipital encephalocele, Cyanosis, Micrognathia, Abdominal distention, Pneumot... |
OMIM:619879 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Thin upper lip vermilion, Congenital hip dislocation, Ataxia, Aggressive behavior, Wide anterior ... |
ORPHA:457279 |
Familial Nasal Acilia |
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Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
20P12.3 Microdeletion Syndrome |
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Hypoplasia of the maxilla, Microtia, Narrow mouth, Thickened helices, Malar flattening, Long phil... |
ORPHA:261295 |
Double Outlet Right Ventricle |
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Cyanosis, Intestinal malrotation, Submucous cleft hard palate, Tachypnea, Cleft palate, Feeding d... |
ORPHA:3426 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
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Low-set, posteriorly rotated ears, Camptodactyly of finger, Abnormal oral mucosa morphology, Micr... |
ORPHA:1968 |
Congenital Disorder Of Glycosylation, Type Ix |
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Respiratory distress, Death in childhood, Feeding difficulties |
OMIM:615597 |
Niemann-Pick Disease, Type A |
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Feeding difficulties in infancy, Inability to walk, Athetosis, Vomiting, Constipation, Protuberan... |
OMIM:257200 |
Cirrhosis, Familial |
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Abdominal distention, Jaundice, Fulminant hepatitis, Esophageal varix, Pulmonary arterial hyperte... |
OMIM:215600 |
Stickler Syndrome, Type I |
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Arthropathy, Micrognathia, Sensorineural hearing impairment, Submucous cleft hard palate, Osteoar... |
OMIM:108300 |
Dislocation Of The Hip-Dysmorphism Syndrome |
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Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Hearing abnorm... |
ORPHA:2412 |
Achondrogenesis Type 1A |
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Abdominal distention, Long philtrum |
ORPHA:93299 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Cyanosis, Aggressive behavior, Dysplastic corpus callosum, Sensorineural hearing impairment, Genu... |
ORPHA:488627 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
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Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Anal atresia |
ORPHA:93950 |
Autoimmune Pulmonary Alveolar Proteinosis |
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Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO |
ORPHA:747 |
Oculogastrointestinal Muscular Dystrophy |
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Spontaneous esophageal perforation, Gastroparesis, Intestinal pseudo-obstruction, Malabsorption, ... |
ORPHA:1876 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
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Flexion contracture, Optic atrophy, Myopathy, Neonatal death, Hearing impairment |
OMIM:618237 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
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Posteriorly rotated ears, Abnormal pinna morphology, Genu recurvatum, Micrognathia, Feeding diffi... |
OMIM:182212 |
Achalasia-Addisonianism-Alacrima Syndrome |
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Orthostatic hypotension, Ataxia, Optic atrophy, Abnormal autonomic nervous system physiology, Ach... |
OMIM:231550 |
Hydrolethalus |
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Low-set, posteriorly rotated ears, Micrognathia, Submucous cleft hard palate, Cleft palate, Gingi... |
ORPHA:2189 |
Manganese Poisoning |
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Akinesia, Aggressive behavior, Hypersexuality, Gait disturbance, Inappropriate laughter, Compulsi... |
ORPHA:306682 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
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Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... |
OMIM:270420 |
Tetanus |
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Respiratory distress, Bowel incontinence, Abdominal pain, Trismus, Tachypnea, Abnormal autonomic ... |
ORPHA:3299 |
Acrocephalopolydactyly |
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Protuberant abdomen |
ORPHA:221054 |
Stickler Syndrome Type 1 |
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Hypoplasia of the maxilla, Sensorineural hearing impairment, Osteoarthritis, Cleft palate, Long p... |
ORPHA:90653 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
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Achalasia, Deep philtrum, Aggressive behavior, Dysphagia |
ORPHA:289483 |
Idiopathic Neonatal Atrial Flutter |
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Feeding difficulties in infancy, Tachypnea, Respiratory distress |
ORPHA:45452 |
Coffin-Lowry Syndrome |
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Delayed eruption of teeth, Death in early adulthood, Craniofacial hyperostosis, Abnormal dental m... |
ORPHA:192 |
Pitt-Hopkins Syndrome |
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Gait ataxia, Gastroesophageal reflux, Short philtrum, Thickened helices, Acrocyanosis, Hyperventi... |
ORPHA:2896 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Respiratory distress, Thin upper lip vermilion, Broad-based gait, Tented upper lip vermilion, Ata... |
ORPHA:438216 |
Meconium Aspiration Syndrome |
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Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
Meier-Gorlin Syndrome 5 |
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Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Patellar apl... |
OMIM:613805 |
X-Linked Intellectual Disability, Porteous Type |
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Mandibular prognathia, Hypoplasia of the maxilla, Cupped ear, Short philtrum, Macrotia |
ORPHA:93945 |
Nemaline Myopathy 10 |
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Skeletal muscle atrophy, Death in infancy, Facial palsy, Fatty replacement of skeletal muscle, Fl... |
OMIM:616165 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
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Respiratory distress, Posteriorly rotated ears, Abnormality of the philtrum, Aplasia/Hypoplasia o... |
ORPHA:2759 |
Vertebral Hypersegmentation And Orofacial Anomalies |
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Scapular winging, Micrognathia, Submucous cleft hard palate, Darwin tubercle of helix, Unilateral... |
OMIM:619122 |
Coenzyme Q10 Deficiency, Primary, 8 |
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Respiratory distress, Feeding difficulties, Peripheral demyelination, Hearing impairment |
OMIM:616733 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
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Pulmonary arterial hypertension, Tachypnea, Intestinal malrotation, Hypoperistalsis |
OMIM:613834 |
Crouzon Syndrome |
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Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hyd... |
OMIM:123500 |
Nephrotic Syndrome, Type 1 |
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Pyloric stenosis, Neonatal respiratory distress, Gastroesophageal reflux, Abdominal distention |
OMIM:256300 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
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Joint dislocation, Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Abn... |
ORPHA:3201 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
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Akinesia, Micrognathia, Hydrocephalus, Cleft palate, Hydranencephaly, Pterygium, Agenesis of corp... |
OMIM:225790 |
Chromosome 6Q24-Q25 Deletion Syndrome |
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Respiratory distress, Thin upper lip vermilion, High, narrow palate, Hydrocephalus, Cupped ear, S... |
OMIM:612863 |
Lethal Kniest-Like Dysplasia |
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Wide anterior fontanel, Abnormal cartilage morphology, Abnormal cartilage matrix, Cleft palate, L... |
ORPHA:2347 |
Ethylmalonic Encephalopathy |
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Diarrhea, Acrocyanosis, Ataxia, Petechiae |
ORPHA:51188 |
Gaucher Disease, Type Ii |
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Death in infancy, Apnea, Cough, Feeding difficulties, Stridor, Gastroesophageal reflux, Protubera... |
OMIM:230900 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
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Progeroid facial appearance, Hypoplasia of the maxilla, Sensorineural hearing impairment, Genu va... |
OMIM:608154 |
Van Maldergem Syndrome 2 |
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Irregular dentition, Wide cranial sutures, Tented upper lip vermilion, Tracheomalacia, Micrognath... |
OMIM:615546 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
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Thin upper lip vermilion, Cyanosis, Micrognathia, Protruding ear, High palate, Recurrent otitis m... |
ORPHA:3304 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Respiratory distress, Abnormal pinna morphology, Wide anterior fontanel, Jaundice, Vomiting, Neon... |
OMIM:231680 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
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Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Prominent antihelix, Shor... |
ORPHA:293725 |
Episodic Ataxia Type 1 |
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Choreoathetosis, Tip-toe gait, Nausea, Respiratory distress |
ORPHA:37612 |
Al Amyloidosis |
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Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Nonproductive cough, Dyspnea, X... |
ORPHA:85443 |
Van Der Woude Syndrome 1 |
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Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Bor Syndrome |
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Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... |
ORPHA:107 |
Achalasia, Familial Esophageal |
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Achalasia, Xerostomia, Rheumatoid arthritis |
OMIM:200400 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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Thin upper lip vermilion, Death in infancy, Abdominal distention, Alveolar ridge overgrowth, Clef... |
OMIM:235255 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
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Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Gastroeso... |
OMIM:619950 |
Multicentric Carpotarsal Osteolysis Syndrome |
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Ankle swelling, Micrognathia, Hypoplasia of the maxilla, Inability to walk, Wrist swelling, Carpa... |
OMIM:166300 |
Birk-Barel Syndrome |
|
Microretrognathia, Reduced subcutaneous adipose tissue, Tented upper lip vermilion, Feeding diffi... |
OMIM:612292 |
Arthrogryposis, Distal, Type 3 |
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Decreased muscle mass, Congenital hip dislocation, Camptodactyly of finger, Micrognathia, Submuco... |
OMIM:114300 |
Schilbach-Rott Syndrome |
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Posteriorly rotated ears, Micrognathia, Submucous cleft hard palate, Microtia, Narrow mouth, Bifi... |
OMIM:164220 |
Loeys-Dietz Syndrome 5 |
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Decreased muscle mass, Scapular winging, Tented upper lip vermilion, Cleft soft palate, Eosinophi... |
OMIM:615582 |
Congenital Laryngeal Web |
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Respiratory distress, Stridor |
ORPHA:2374 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
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Freezing of gait, Akinesia, Feeding difficulties |
OMIM:619911 |
Branchiootorenal Syndrome 1 |
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Branchial cyst, Congenital hip dislocation, High palate, Conductive hearing impairment, Microdont... |
OMIM:113650 |
Mirizzi Syndrome |
|
Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Nausea |
ORPHA:521219 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Restlessness, Hyperactivity, Thin upper lip vermilion, Micrognathia, Hypop... |
OMIM:300534 |
7Q31 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of the maxilla, Nasogastric tube feeding in infancy, Hypoplasia of the ... |
ORPHA:251061 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Dysphagia |
ORPHA:240103 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Cree Mental Retardation Syndrome |
|
Posteriorly rotated ears, Cleft soft palate, Low-set ears, Micrognathia |
OMIM:606851 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Ataxia, Inability to walk, Feeding difficulties, Athetosis, Esophagitis, Truncal a... |
OMIM:615356 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic disc pallor, Optic neuropathy, Akinesia, Optic atrophy, Choreoathetosis, Gastroesophageal r... |
OMIM:618249 |
Oromandibular Dystonia |
|
Respiratory distress, Abnormality of the temporomandibular joint, Abnormal mandible morphology, D... |
ORPHA:93958 |
Pancreatoblastoma |
|
Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Vomiting |
ORPHA:677 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Feeding difficulties, High palate, Inspiratory stridor, I... |
OMIM:604377 |
Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Pyloric stenosis, Hyd... |
ORPHA:2409 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular ... |
ORPHA:51608 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Cleft palate, Tooth agenesis, Microd... |
ORPHA:1248 |
Congenital Heart Block |
|
Feeding difficulties in infancy, Pleural effusion, Cyanosis, Crackles |
ORPHA:60041 |
Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait |
ORPHA:391411 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Abnormal autonomic nervous system physiology, ... |
ORPHA:247234 |
Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Patellar aplasia, Thick lower lip vermi... |
OMIM:613804 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Submu... |
OMIM:619103 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Gastrointestinal infarctions, Pleural em... |
ORPHA:2038 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Genu recurvatum, Micrognathia, Feeding difficulties in infancy, Hypoplasia ... |
OMIM:224690 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abdominal distention |
ORPHA:369 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion,... |
ORPHA:329178 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting |
ORPHA:35710 |
Slc35A1-Cdg |
|
Hypoxemia, Pneumonia, Respiratory distress, Subcutaneous hemorrhage |
ORPHA:238459 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Macrotia, Thick lower lip vermilion, Prominent antihelix, Joint contracture of the 5th finger, Tr... |
OMIM:614407 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Posteriorly rotated ears, Facial hypotonia, Dental crowding, Protruding tongue, Submucous cleft h... |
OMIM:618106 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Respiratory distress, Retrognathia, Dentinogenesis i... |
ORPHA:166272 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Restlessness, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Respira... |
ORPHA:79276 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Congenital hip dislocation, Posteriorly rotated ears, Cleft soft palate, Micrognat... |
OMIM:117650 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate, Uplifted earlobe |
OMIM:620183 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Hydrocephalus, Sensorineural hear... |
OMIM:109120 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Abdominal pain, Gingival bleeding, Volvulus, Bruising susceptibility, Subcutaneous hemo... |
ORPHA:335 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Death in childhoo... |
OMIM:220110 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Choreoathetosis, Respiratory distress, Nausea and vomiting |
ORPHA:289916 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Thin upper lip vermilion, Hyperactivity, Dental crowding, Micrognathia, Hypoplasia of the maxilla... |
OMIM:309520 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Chronic constipation, Hypoplasia of the maxilla, High palate |
OMIM:300676 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Abdominal distention, Jaundice |
OMIM:618528 |
Spinocerebellar Ataxia Type 21 |
|
Progressive cerebellar ataxia, Akinesia, Gait ataxia |
ORPHA:98773 |
Carpenter Syndrome 1 |
|
Abnormal pinna morphology, Sagittal craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Pe... |
OMIM:201000 |
Chromosome 17Q12 Duplication Syndrome |
|
Facial hypotonia, Cleft soft palate, Micrognathia, Esophageal atresia, Smooth philtrum |
OMIM:614526 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Posteriorly rotated ears, Decreased nerve conduction velocity, Simple ear, ... |
OMIM:618733 |
Colonic Atresia |
|
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Angelman Syndrome |
|
Mandibular prognathia, Broad-based gait, Hyperactivity, Ataxia, Protruding tongue, Feeding diffic... |
OMIM:105830 |
Cohen Syndrome |
|
Micrognathia, Feeding difficulties in infancy, Hypoplasia of the maxilla, Cubitus valgus, High, n... |
OMIM:216550 |
Cerebrofacioarticular Syndrome |
|
Irregular dentition, Anal stenosis, Ataxia, Tracheomalacia, Micrognathia, Feeding difficulties in... |
ORPHA:314679 |
Mohr Syndrome |
|
Wormian bones, Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla... |
OMIM:252100 |
Castleman Disease |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abdominal distention, Jaundice, Dysp... |
ORPHA:160 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Sialuria |
|
Thin upper lip vermilion, Macroglossia, High palate, Protuberant abdomen, Long philtrum, Attentio... |
OMIM:269921 |
Saethre-Chotzen Syndrome |
|
Proximal radio-ulnar synostosis, Craniosynostosis, Prominent crus of helix, External ear malforma... |
ORPHA:794 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Nasogastric tube feeding in i... |
OMIM:106260 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Mandibular prognathia, Protruding ear, Genu valgum, Hypoplasia of the zygomatic bone, Low-set ear... |
ORPHA:1778 |
Myotonic Dystrophy 1 |
|
Feeding difficulties in infancy, Obsessive-compulsive trait, Respiratory distress, Dysphagia |
OMIM:160900 |
Craniosynostosis 2 |
|
Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Metopic synostosi... |
OMIM:604757 |
Gonadoblastoma |
|
Abdominal distention, Abdominal pain |
ORPHA:206484 |
Dubowitz Syndrome |
|
Micrognathia, Rectal prolapse, Protruding ear, High palate, Spina bifida occulta, Low-set, poster... |
ORPHA:235 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Wide anterior fontanel,... |
OMIM:614886 |
Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Micrognathia, Feeding difficulties in infancy, Hyp... |
ORPHA:193 |
Pediatric Systemic Lupus Erythematosus |
|
Abdominal pain, Abdominal distention, Diarrhea, Dyspnea, Oral ulcer, Vomiting, Pleural effusion |
ORPHA:93552 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Conductive hearing impairment... |
ORPHA:861 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Respiratory distress, Limited elbow movement, Pierre-Robin sequence, Hip dislocati... |
OMIM:183900 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Death in infancy, Respiratory distress, Genu recurvatum, Flat acetabul... |
OMIM:184260 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Restlessness, Shuffling gait |
OMIM:300266 |
Necrotizing Enterocolitis |
|
Apnea, Abdominal distention, Diarrhea, Bloody diarrhea, Vomiting |
ORPHA:391673 |
Achondrogenesis, Type Ii |
|
Protuberant abdomen, Stillbirth, Cleft palate, Long philtrum |
OMIM:200610 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Intestinal obstruction, Sinusitis, Cutis marmorata, Malabsorption, Abdominal... |
ORPHA:183 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Abdominal distention, Death in infancy, Death in childhood |
OMIM:619423 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Abdominal distention, Episodic abdominal pain, Intermittent jaundice, Nausea |
ORPHA:100086 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain |
ORPHA:83469 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormalit... |
ORPHA:2753 |
Celiac Disease, Susceptibility To, 1 |
|
Ataxia, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Vomiting, Recurrent aphth... |
OMIM:212750 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death, Abdominal distention, Microcolon |
OMIM:619362 |
Ovarian Fibrothecoma |
|
Abdominal distention, Pleural effusion, Abdominal pain |
ORPHA:314478 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Akinesia, Narrow mouth, Vomiting, Death in childhood, Long philtrum |
OMIM:619147 |
Cardiofaciocutaneous Syndrome 1 |
|
Micrognathia, Feeding difficulties in infancy, Deep philtrum, Vomiting, Gastroesophageal reflux, ... |
OMIM:115150 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Hyperactivity, Crowded maxillary incisors |
ORPHA:397973 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Papilledema, Abnormal dental morphology, Camptodactyly of finger, Sensorineural hea... |
ORPHA:217085 |
Buratti-Harel Syndrome |
|
Posteriorly rotated ears, Velopharyngeal insufficiency, Submucous cleft hard palate, Microtia, Hi... |
OMIM:619314 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Premature loss of teeth, Thin vermilion border, Short philtrum |
OMIM:156510 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Optic disc coloboma, Aglossia, Malar flatte... |
OMIM:241310 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Micrognathia, Sensorineural hearing impairment, Protruding ear... |
ORPHA:1131 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... |
ORPHA:199241 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Low-set, posteriorly rotated ears, Carious teeth, Downturned corners of mo... |
ORPHA:1110 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in ... |
ORPHA:177907 |
Kufor-Rakeb Syndrome |
|
Ataxia, Akinesia, Aggressive behavior, Gait disturbance, Dysphagia |
OMIM:606693 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Respiratory distress, Broad-based gait, Ataxia, Reye syndrome-like episode... |
OMIM:256810 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Conical tooth, Conduc... |
ORPHA:1071 |
Marshall-Smith Syndrome |
|
Irregular dentition, Apnea, Anteriorly placed anus, Glossoptosis, Short philtrum, High palate, As... |
OMIM:602535 |
Platyspondylic Dysplasia, Torrance Type |
|
Abdominal distention, Cleft palate |
ORPHA:85166 |
Inflammatory Pseudotumor Of The Liver |
|
Abdominal distention, Vomiting, Nausea, Abdominal pain |
ORPHA:90003 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Papilledema, Abnormal dental morphology, Camptodactyly of finger, Sensorineural hea... |
ORPHA:217093 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Restlessness, Feeding difficulties, Hypodontia, Gastrostomy tube feeding in... |
ORPHA:544503 |
Hereditary Fructose Intolerance |
|
Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Constipation, Vomiting, Chronic hepatic... |
ORPHA:469 |
Lymphatic Malformation 7 |
|
Respiratory distress, Abdominal distention, Pleural effusion, Chylothorax |
OMIM:617300 |
Fetal Gaucher Disease |
|
Low-set, posteriorly rotated ears, Death in infancy, Flexion contracture, Stillbirth, High palate... |
ORPHA:85212 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Prominent metopic ridge, Tented upper lip vermilion, Posteriorl... |
OMIM:608670 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Conductive hearing impairment, Velopharyngeal insufficiency, No... |
ORPHA:199302 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Wormian bones, Abnormal dental ename... |
ORPHA:1452 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Cutis marmorata, Malabsorption, Feeding difficulties in infancy, Abdominal ... |
ORPHA:3260 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Craniosynostosis, Cleft palate, Hypop... |
ORPHA:83 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Respiratory distress, Anteverted ears, Downturned corners of mouth, Gastro... |
OMIM:616268 |
Microvillus Inclusion Disease |
|
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea |
ORPHA:2290 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Hearing impairment, Alobar holop... |
OMIM:301043 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Intestinal malrotation, Aqueductal stenosis, Hydrocephalus, Cleft palate, H... |
ORPHA:93259 |
Diaphanospondylodysostosis |
|
Respiratory distress, Micrognathia, Respiratory insufficiency, Cleft palate, Protuberant abdomen,... |
OMIM:608022 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea, Hepatic failure |
OMIM:261680 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Impulsivity, Akinesia, Neuromuscular dysphagia, Falls, Gait imbalance |
ORPHA:240071 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Micrognathia, Multiple joint dislocation, High palate, Microdontia, Repeate... |
ORPHA:536467 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Anhidrotic ectodermal dysplasia, Hypoplasia of the maxilla, Carious teeth, Cleft u... |
OMIM:129400 |
Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Delayed eruption of primary teeth,... |
ORPHA:763 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Feeding difficulties in infancy, Carious teeth, Xero... |
ORPHA:1051 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Ethylene Glycol Poisoning |
|
Cyanosis, Ataxia, Gastritis, Abnormal pattern of respiration, Tachypnea, Episodic respiratory dis... |
ORPHA:31826 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure, Akinesia |
OMIM:607598 |
Congenital Myopathy 22B, Severe Fetal |
|
Waddling gait, Hip contracture, Respiratory distress, Tented upper lip vermilion, Dental crowding... |
OMIM:620369 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Campomelic Dysplasia |
|
Respiratory distress, Irregular dentition, Apnea, Micrognathia, Patellar hypoplasia, High palate,... |
OMIM:114290 |
Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Anorexia, Abdominal distention, Jaundice, Episodic abdominal pain |
ORPHA:370348 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Achalasia, Dysphagia |
OMIM:300858 |
Marshall Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, Sensorineural hearing impa... |
ORPHA:560 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... |
OMIM:601216 |
Microcephaly-Capillary Malformation Syndrome |
|
Hypoplasia of the maxilla, Optic atrophy, Cleft palate, Low-set ears, Hearing impairment |
OMIM:614261 |
Stt3B-Cdg |
|
Respiratory distress, Feeding difficulties |
ORPHA:370924 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Cleft palate, Protruding ear, Low-set ears, Neonat... |
ORPHA:85284 |
Mogs-Cdg |
|
Respiratory distress, Absent brainstem auditory responses, Hypoventilation, Apnea, Sensorineural ... |
ORPHA:79330 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Mixed hearing impairment, Neon... |
ORPHA:79345 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Posteriorly rotated ears, Submucous cleft hard palate, Optic atrophy, Cl... |
ORPHA:899 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Dravet Syndrome |
|
Progressive gait ataxia, Obsessive-compulsive trait, Cyanotic episode, Impulsivity |
ORPHA:33069 |
Parkinson Disease 17 |
|
Akinesia |
OMIM:614203 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, Abdominal distention, Jaundice, Hepatic failure |
OMIM:617156 |
Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption |
ORPHA:71 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Posteriorly rotated ears, Camptodactyly of finger, Craniosynostosis,... |
ORPHA:2462 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Hyperactivity, Ataxia, Abnormal eating behav... |
ORPHA:209905 |
Aicardi Syndrome |
|
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Hiatus hernia, Feeding diffi... |
ORPHA:50 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Low-set ears |
OMIM:614870 |
Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency, Feeding difficulties |
ORPHA:1461 |
Tularemia |
|
Respiratory distress, Pneumonia, Oral ulcer, Otitis media, Cough, Pleural effusion |
ORPHA:3392 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Respiratory distress, Prominent superficial veins, Pyloric stenosis,... |
ORPHA:363705 |
Larsen-Like Syndrome, Lethal Type |
|
Joint dislocation, Tracheomalacia, Multiple joint dislocation, Abnormal cartilage matrix, Respira... |
OMIM:245650 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Cutis marmorata, Gingival overgrowth, Evert... |
OMIM:614753 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Ataxia, Hypercapnia, Reduced forced vital capacity, Respiratory insufficien... |
OMIM:164310 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Aplasia/Hyp... |
OMIM:613803 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Dental crowding, M... |
OMIM:300990 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Abdominal pain, Abdominal distention, Hypopnea, Petechiae, Purpura |
ORPHA:2330 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Otitis media, Ciliary dyskinesia... |
OMIM:606763 |
Keipert Syndrome |
|
Hypoplasia of the maxilla, Sensorineural hearing impairment, Tented upper lip vermilion, Exaggera... |
ORPHA:2662 |
Sweeney-Cox Syndrome |
|
Prominent metopic ridge, Uplifted earlobe, Micrognathia, Wide anterior fontanel, Velopharyngeal i... |
OMIM:617746 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... |
ORPHA:2751 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Posteriorly rotated ears, Micrognathia, Cleft palate, Microtia, Atresia of ... |
OMIM:613309 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Abnormality of th... |
ORPHA:2671 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Feeding di... |
ORPHA:1329 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Dental crowding, Micrognathia, Centrally nucleated skeletal mu... |
OMIM:620351 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Feeding difficulties in infancy, Abdominal distention, Gait ataxia, Progressive gait ataxia, Tip-... |
ORPHA:309256 |
Donohue Syndrome |
|
Wide mouth, Abdominal distention, Thick lower lip vermilion, Gingival overgrowth |
OMIM:246200 |
Recon Progeroid Syndrome |
|
Attached earlobe, Prominence of the premaxilla, Dental crowding, Progeroid facial appearance, Liv... |
OMIM:620370 |
Cleidocranial Dysplasia 2 |
|
Delayed eruption of primary teeth, Hypoplasia of the maxilla, Wide anterior fontanel, Supernumera... |
OMIM:620099 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Carious teeth, Cleft... |
ORPHA:3253 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Akinesia, Aggressive behavior |
OMIM:300894 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Apnea, Dental crowding, Micrognathia, Deep philtrum, Multiple joint disloc... |
OMIM:619503 |
Aicardi-Goutieres Syndrome 1 |
|
Feeding difficulties in infancy, Inability to walk, Erythema, Multiple gastric polyps, Prolonged ... |
OMIM:225750 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Abnormality of the dentition |
ORPHA:2776 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mouth |
OMIM:137550 |
Toluene Embryopathy |
|
Micrognathia, Protruding ear, Thin vermilion border, Hypoplasia of the zygomatic bone, Low-set ea... |
ORPHA:1920 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Dental crowding, Micrognathia, Feeding difficulties in infancy, Hypoplasia ... |
OMIM:180849 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Mandibular prognathia, Malar prominence, Optic atrophy, Choreoathetosis, Large earlobe, Wide mout... |
ORPHA:2715 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... |
OMIM:615512 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Protuberant abdomen, Cleft palate |
OMIM:184250 |
Adnp Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Oral-pharyngeal dysphagia, Aggressive behavior, T... |
ORPHA:404448 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Wide cranial sutures, Dental crowding, Micrognathia, Hypoplasia of the... |
OMIM:257850 |
Pachyonychia Congenita |
|
Respiratory distress, Natal tooth, Angular cheilitis, Ear pain, Feeding difficulties, Advanced er... |
ORPHA:2309 |
Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ... |
ORPHA:206436 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Reye syndrome-like episo... |
ORPHA:348 |
Microphthalmia With Limb Anomalies |
|
Low-set, posteriorly rotated ears, Death in infancy, Macrodontia, Hypoplasia of the premaxilla, T... |
ORPHA:1106 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Ovarian Hyperstimulation Syndrome |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Pleural effusion, Nausea |
ORPHA:64739 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Cleft soft palate, Micrognathia, Feeding difficulties, Hypoxemia, Microtia, Submucous cleft soft ... |
ORPHA:2282 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Abnormal pinna morphology, Posteriorly rotated ears, Hypoplasia of the maxilla... |
ORPHA:228396 |
Atelosteogenesis, Type Iii |
|
Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Flat acetabular roof, Cleft palate, K... |
OMIM:108721 |
Afibrinogenemia, Congenital |
|
Death in infancy, Epistaxis, Hematemesis, Death in adolescence, Gingival bleeding, Death in child... |
OMIM:202400 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Microtia, Abnormal parotid gland morph... |
OMIM:154500 |
Desmosterolosis |
|
Low-set, posteriorly rotated ears, Intestinal malrotation, Micrognathia, Hydrocephalus, Submucous... |
ORPHA:35107 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Hydrocephalus, Upper airway obstruction, Feeding difficul... |
OMIM:100800 |
W Syndrome |
|
Elbow dislocation, Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodact... |
ORPHA:2804 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Abnormal dental enamel morphology, Feeding difficulties in infancy, Hydrocephalus, Cleft palate, ... |
ORPHA:1812 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Hydrocephalus, Short philtrum, E... |
OMIM:601499 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Gait disturbance, Protuberant abdomen |
OMIM:613330 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Feeding difficulties, Stridor, Gastroesophageal reflux, Poor suck |
OMIM:615595 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Holoprosencephaly 9 |
|
Optic nerve hypoplasia, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla,... |
OMIM:610829 |
Thyroid Ectopia |
|
Macroglossia, Jaundice, Constipation, Abdominal distention |
ORPHA:95712 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Neuropathic arthropathy, Decreased number of large peripheral myelinated... |
OMIM:223900 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Vomiting |
ORPHA:247257 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Optic disc pallor, Death in infancy, Cyanosis, Ataxia, Apnea, Optic neuropathy, Feeding difficult... |
OMIM:252010 |
Martsolf Syndrome 1 |
|
Posteriorly rotated ears, Micrognathia, Feeding difficulties in infancy, Hypoplasia of the maxill... |
OMIM:212720 |
Frontorhiny |
|
Encephalocele, Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypoplasia of the maxi... |
ORPHA:391474 |
Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Jaundi... |
ORPHA:275761 |
Hereditary Spherocytosis |
|
Abdominal distention, Jaundice, Ataxia, Abdominal pain |
ORPHA:822 |
Rodrigues Blindness |
|
Ectodermal dysplasia, Tooth malposition, Nasal flaring |
OMIM:268320 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Death in infancy, Micrognathia, Downturned corners of mouth, Neonatal death, Arthrogryposis multi... |
OMIM:616342 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Sensorineural hearing impairment, Optic atrophy, Ataxia |
ORPHA:254913 |
Orofaciodigital Syndrome Type 10 |
|
Tarsal synostosis, Cleft soft palate, Micrognathia, Accessory oral frenulum, Long philtrum, Metat... |
ORPHA:2756 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Otosclerosis, Prominent metopic ridge, Diastasis recti, Congenital diaphra... |
ORPHA:116 |
Schneckenbecken Dysplasia |
|
Protuberant abdomen, Stillbirth, Cleft palate |
OMIM:269250 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Prematurely aged appearance, Telangiectasia of the skin, Craniosynostosis, ... |
ORPHA:3342 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Torticollis, Posteriorly rotated ears, Submucous cleft hard palate, Dow... |
OMIM:619680 |
Chitayat Syndrome |
|
Respiratory distress, Thick vermilion border, Tracheomalacia |
OMIM:617180 |
Schimke Immuno-Osseous Dysplasia |
|
Abdominal distention, Abnormal primary molar morphology, Abnormal intestine morphology, Hypodonti... |
ORPHA:1830 |
Hypoglossia-Hypodactyly Syndrome |
|
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Feeding diffic... |
ORPHA:989 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Hereditary Late-Onset Parkinson Disease |
|
Akinesia, Impulsivity, Chronic constipation, Agitation, Shuffling gait, Dysphagia |
ORPHA:411602 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Fused cervical verteb... |
OMIM:619227 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Esophageal varix, Respiratory insufficiency, Decreased liver function, Hepa... |
ORPHA:367 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Hip contracture, Thin upper lip vermilion, Posteriorly rotated ears, Prominent ... |
OMIM:619194 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Respiratory distress, Ma... |
ORPHA:537 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic her... |
ORPHA:958 |
X-Linked Acrogigantism |
|
Diastema, Abdominal distention, Ataxia, Polyphagia |
ORPHA:300373 |
Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of the gastrointestinal tract, Feeding difficultie... |
ORPHA:1340 |
Acrofacial Dysostosis, Catania Type |
|
Low-set, posteriorly rotated ears, Microretrognathia, Abnormality of the dentition, Feeding diffi... |
ORPHA:1786 |
Radio-Renal Syndrome |
|
Respiratory distress, Micrognathia, Dyspnea, High, narrow palate, Abnormality of the elbow, Downt... |
ORPHA:3015 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Dental crowding, Persistence of primary teeth, Hypoplasia of the maxill... |
OMIM:170390 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Mixed hearing impairment, Death in infancy, Posteriorly rotat... |
OMIM:259775 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Abdominal distention, Alveolar ridge overgrowth, High palate, Protein-l... |
ORPHA:1655 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Neonatal respiratory distress, Protuberant abdomen |
OMIM:187600 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Posteriorly rotated ears, Abnormality of the dentition, Hip dislocation, Cl... |
OMIM:300968 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Submucous cleft hard... |
ORPHA:2588 |
Waardenburg Syndrome Type 3 |
|
Tented upper lip vermilion, Camptodactyly of finger, Hearing impairment, Tracheomalacia, Acrocyan... |
ORPHA:896 |
Faciocardiomelic Dysplasia, Lethal |
|
Micrognathia, Narrow mouth, Neonatal death, Microglossia, Retrognathia |
OMIM:227270 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Posteriorly rotated ears, Abnormal dental enamel... |
ORPHA:439822 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Persistent open anterior fontanelle, Neonatal respiratory distress, Delayed... |
OMIM:119600 |
Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:60025 |
Acrofacial Dysostosis, Cincinnati Type |
|
Micrognathia, Hypoplasia of the maxilla, Retrognathia, Cleft palate, Anotia, Microtia, Acetabular... |
OMIM:616462 |
Tarp Syndrome |
|
Posteriorly rotated ears, Micrognathia, Optic atrophy, Cleft palate, Tongue nodules, Prominent an... |
OMIM:311900 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Respiratory insufficiency, Hepatic failure |
ORPHA:159 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Flat acetabular roof, Stillbirth, Protuberant abdomen, Low-set ears |
OMIM:151210 |
Mgat2-Cdg |
|
Low-set, posteriorly rotated ears, Respiratory distress, Posteriorly rotated ears, Gastroparesis,... |
ORPHA:79329 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Protuberant abdomen |
OMIM:618272 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Death in infancy, Diarrhea, Esophageal varix, Vomiting, Protuberant abdome... |
OMIM:278000 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing im... |
ORPHA:466943 |
Polyembryoma |
|
Abdominal distention, Abdominal pain |
ORPHA:180229 |
Familial Visceral Myopathy |
|
Abdominal distention, Aganglionic megacolon, Cleft palate |
ORPHA:2604 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Vertebral fusion, Posteriorly rotated ears, Craniosynostosis, Micrognathia, Hypoplasia of the max... |
OMIM:213980 |
Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:615108 |
Aarskog-Scott Syndrome |
|
Cleft upper lip, Hypoplasia of the maxilla, Cleft palate, Curved linear dimple below the lower li... |
OMIM:305400 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Stillbirth, Low-set ears, Neonatal death, Arthrogryposis multiplex congenita |
OMIM:236500 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, Ataxia, Cleft soft palate, Aggressive behavior, Nasogastric tube feeding in inf... |
ORPHA:268261 |
Corticobasal Syndrome |
|
Gait disturbance, Akinesia |
ORPHA:454887 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Central hypoventilation, Aggressive behavior, Celiac disease, Sensorin... |
ORPHA:293987 |
Van Den Ende-Gupta Syndrome |
|
Posteriorly rotated ears, Dental crowding, Craniosynostosis, Micrognathia, Hypoplasia of the maxi... |
OMIM:600920 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Intestinal malrotation, Aqueductal stenosis, Cleft palate, High palate, Low... |
ORPHA:93260 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Pneumonia, Jaundice, Tachypnea, Feeding difficulties, A... |
ORPHA:26793 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Diarrhea, Vomiting |
OMIM:212140 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation |
OMIM:264270 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Sensory axonal neuropathy, Low-set ears |
OMIM:610127 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Attached earlobe, Mixed hearing impairment, Craniosynostosis, Abnormality ... |
ORPHA:1299 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Micrognathia, Osteo... |
ORPHA:740 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Oral mucosal blisters, Abdominal distention, Congenital pyloric atresia, Skin fragility with non-... |
ORPHA:158684 |
Mucopolysaccharidosis Type 3 |
|
Otitis media, Aspiration pneumonia, Thickened helices, Loss of ambulation, Conductive hearing imp... |
ORPHA:581 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
High-frequency sensorineural hearing impairment, Skeletal muscle atrophy, Mixed hearing impairmen... |
OMIM:614557 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Optic nerve hypoplasia, Micrognathia, Flexion contracture, Submucous cleft hard palate, High palate |
OMIM:222765 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Genu valgum, Short p... |
OMIM:619142 |
Fibrochondrogenesis 1 |
|
Abnormal pinna morphology, Wide anterior fontanel, Narrow mouth, Cleft palate, Widely patent coro... |
OMIM:228520 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Ataxia, Micrognathia, Trismus, Recurrent pneumonia, Feeding difficulties, C... |
OMIM:616271 |
Schimke Immunoosseous Dysplasia |
|
Waddling gait, Dyspnea, Protuberant abdomen, Microdontia, Pulmonary arterial hypertension |
OMIM:242900 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Hydrocephalus, Humeroradial sy... |
OMIM:101600 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypoplasia of the maxilla, Conductive... |
ORPHA:306542 |
Viss Syndrome |
|
Chronic gastritis, Prominent superficial blood vessels, Micrognathia, High, narrow palate, Gastro... |
OMIM:619472 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
Dysostosis, Stanescu Type |
|
Persistent open anterior fontanelle, Abnormal dental enamel morphology, Abnormality of the dentit... |
ORPHA:1798 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Extra concha fold, Micrognathia, Hypoplasia of ... |
OMIM:209885 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Feeding difficulties in... |
ORPHA:308552 |
Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:615109 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Nonproductive cough, Fulminant hepatitis, Odynophagia, Diarrhea, ... |
ORPHA:319213 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Thin upper lip vermilion, Asymmetry of the ears, Flexion contracture, Cleft pa... |
OMIM:619124 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Prematurely aged appearance, Facial palsy, Abnormal dental enamel morpholo... |
ORPHA:2658 |
Neurotrophic Keratopathy |
|
Abnormal fifth cranial nerve morphology |
ORPHA:137596 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Ataxia, Pulmonary embolism, Hydrocephalus, Jaundice, Optic atrophy, Feeding... |
ORPHA:79282 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Abnormal palate morphology |
ORPHA:1540 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Craniosynostosis, Limited elbow movement, Cleft upper lip, Hip disl... |
OMIM:265050 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Posteriorly rotated ears, Micrognathia, Narrow mouth, Neonatal death, Malar flattening, Pterygium |
OMIM:224410 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Feeding difficulties in infancy, Orofacial cleft, Gastroesophageal reflux, High palate, Thickened... |
OMIM:607872 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Gastrointestinal dysmotility, Vomiting, Gastroesophageal reflux, Self-mutilation... |
OMIM:270400 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P... |
ORPHA:95455 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Posteriorly rotat... |
ORPHA:2461 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Multiple pterygia, Micrognathia |
OMIM:601809 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Abnormal pinna morphology, Hypoxemia, Hypoplasia of the zygomatic bone, Holoprosencephaly, Low-se... |
ORPHA:556955 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Thin upper lip vermilion, Abnormal pinna morphology, Sensorineural hearing ... |
OMIM:607143 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Hyperactivity, Micrognathia, Feeding difficulties in infancy, Carious ... |
OMIM:223370 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Abnormal stomach morphology, Neonatal asphyxia, Dyspnea, Wheezing... |
ORPHA:141127 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Respiratory distress, Genu recurvatum, Facial palsy, A... |
ORPHA:79139 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Aganglionic megacolon, Hydrocephalus, Microtia, Constip... |
OMIM:613603 |
Nablus Mask-Like Facial Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Craniosynostosis, Abnormality of the dentitio... |
OMIM:608156 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Cupped ear, Low-set ears |
OMIM:167730 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... |
ORPHA:555874 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Carious teeth, Protuberant abdomen, Difficulty walking, Enamel hypoplasia |
OMIM:277440 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Feeding difficulties in infancy, Hypoplasia of the maxilla, Gastrointestinal dysmotility, Protrud... |
ORPHA:500150 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, High palate |
OMIM:271225 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, High palate |
OMIM:619272 |
Kagami-Ogata Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Microtia, Long philtrum, Pulmonary arterial hypertension... |
OMIM:608149 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Low-set ears, Long philtrum |
OMIM:617895 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Hypoplasia of the zygomatic bone, High palate, Short philtrum, Open mouth,... |
ORPHA:710 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Bowel incontinence, Feeding difficulties in infancy, Inability t... |
ORPHA:365 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth... |
OMIM:305100 |
Doors Syndrome |
|
Respiratory distress, Short lingual frenulum, Downturned corners of mouth, Gastroesophageal reflu... |
ORPHA:79500 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve, Abnormali... |
ORPHA:449563 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nausea and vomiting, Oral mucosal blisters, Abdominal distention, Congenital pyloric atresia, Ena... |
ORPHA:79403 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, High palate, Bifid uvul... |
OMIM:211380 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Peritonitis, Vomiting, Cough, Pleural ef... |
ORPHA:1546 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis, Tachypnea |
ORPHA:860 |
Axenfeld-Rieger Syndrome |
|
Anal stenosis, Hypoplasia of the maxilla, Everted lower lip vermilion, Hypodontia, Microdontia, H... |
ORPHA:782 |
Primary Biliary Cholangitis |
|
Celiac disease, Abdominal distention, Jaundice, Gastrointestinal inflammation, Dermatographic urt... |
ORPHA:186 |
Biotinidase Deficiency |
|
Respiratory distress, Ataxia, Apnea, Optic neuropathy, Hyperventilation, Myelopathy, Sensorineura... |
ORPHA:79241 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Oral mucosal blisters, Congenital pyloric atresia, Microtia, Neonatal death |
OMIM:619817 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Exocrine pancreatic insufficiency, Sensorineural hearing impairment, Lobar holoprosencephaly, Lon... |
OMIM:618500 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Neonatal respiratory distress, Short lingual frenulum, Feeding difficulties, Widely spaced teeth,... |
OMIM:619479 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Inability to walk, Recurrent pneumonia, Optic atrophy, Macroglossia, Thick ... |
OMIM:617303 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Micrognathia, Humeroradial synostosis, Cleft palate, Low-set ears, Narrow mouth... |
OMIM:251230 |
Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Abnormal joint morphology, Pierre-Robin sequence, Cleft palate, Fus... |
ORPHA:485 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Respiratory insuffici... |
OMIM:269860 |
Prolidase Deficiency |
|
Micrognathia, Carious teeth, Genu valgum, Hypoplasia of the zygomatic bone, Abnormality of the mi... |
ORPHA:742 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Submucous cleft hard palate, Bifid uvula, Feeding difficulties |
OMIM:619239 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Oligodontia, Conductive hearing impairme... |
ORPHA:2095 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Abdominal distention, Rectal atresia, Respiratory failure, Narrow mouth, ... |
OMIM:617666 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Abnormal pinna morphology, Esophageal diverticulum, Hamartoma of tongue, Micrognathi... |
OMIM:617925 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Ataxia, Akinesia, Feeding difficulties in infancy, Phonic tics, Choreoathetosis, G... |
OMIM:234200 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention, Thin vermilion border |
OMIM:602557 |
Tolchin-Le Caignec Syndrome |
|
Abnormal vestibular function, Diastasis recti, Micrognathia, Sensorineural hearing impairment, Su... |
OMIM:618971 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Protuberant abdomen, Enamel hypoplasia, Difficulty walking |
OMIM:264700 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Lobulated tongue, High palate, Chronic otitis media, Agenesis of corpus callosum, A... |
ORPHA:2750 |
1Q41Q42 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Submucous cleft hard palate, Thick vermilion border, Cleft palate |
ORPHA:250999 |
Zttk Syndrome |
|
Craniosynostosis, Abnormality of the dentition, Feeding difficulties in infancy, Dysplastic corpu... |
OMIM:617140 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Midgut malrotation, Cyanosis, Short lingual frenulum, Cleft palate |
ORPHA:2326 |
Fibrochondrogenesis 2 |
|
Protuberant abdomen |
OMIM:614524 |
Lethal Congenital Contracture Syndrome 1 |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Micrognathia, Neonatal death, Arthrogrypo... |
OMIM:253310 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Feeding difficulties, Macroglossia, Pleural effusion |
OMIM:261740 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Hydrocephalus, Tachypnea, Optic atrophy, Cleft palate, Vomiting, Cough, Agenesis of cor... |
ORPHA:137675 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Micrognathia, Pyloric stenosis, Recurrent pneumonia, Genu valgum, Death in ... |
OMIM:613848 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Hydrocephalus, Optic... |
OMIM:101800 |
Stickler Syndrome |
|
Joint dislocation, Micrognathia, Feeding difficulties in infancy, Hypoplasia of the maxilla, Oste... |
ORPHA:828 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... |
ORPHA:99106 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Open mout... |
ORPHA:950 |
Glutamine Deficiency, Congenital |
|
Flexion contracture, Thin vermilion border, Low-set ears, Camptodactyly, Neonatal death |
OMIM:610015 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te... |
ORPHA:37553 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Abdominal distention, Poor appetite, Malabsorption |
OMIM:227810 |
Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:158350 |
Neu-Laxova Syndrome 2 |
|
Protuberant abdomen, High palate, Cleft palate |
OMIM:616038 |
Myasthenia Gravis |
|
Dyspnea, Rheumatoid arthritis, Dysphagia, Acrocyanosis, Hearing impairment |
ORPHA:589 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Congenital hip dislocation, Feeding difficulties in infancy, Nasogastric tu... |
ORPHA:508488 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Apnea, Gastrointestinal dysmotility, Anorectal anomaly, Osteoarthritis, Abnorm... |
ORPHA:285 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Sensorineural hearing impairment, Submucous cleft hard palate, Bifid uvula, Incomplete partition ... |
OMIM:617660 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention, Upper airway obstruction |
ORPHA:93352 |
Branchiooculofacial Syndrome |
|
Micrognathia, Conductive hearing impairment, Hypoplastic superior helix, Facial palsy, Cleft uppe... |
OMIM:113620 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Pneumonia, Abdominal pain, Diarrhea, Peritonitis, Tachypnea, Sep... |
ORPHA:36234 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Prominent superficial veins, Flexion contracture of finger, Prematurel... |
OMIM:601812 |
Limb-Mammary Syndrome |
|
Cleft hard palate, Cleft lip, Cleft palate, Protruding ear, Hypodontia, Submucous cleft soft pala... |
ORPHA:69085 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Hip contracture, Wide cranial sutures, Interphalangeal joint contractu... |
OMIM:259600 |
Metachromatic Leukodystrophy, Adult Form |
|
Abdominal distention, Progressive gait ataxia, Bowel incontinence, Difficulty walking |
ORPHA:309271 |
Cocaine Intoxication |
|
Respiratory distress, Abdominal pain, Intestinal perforation, Wheezing, Tachypnea, Pneumothorax, ... |
ORPHA:90068 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Protruding ear, Gastroesophageal reflux, High palate, Abnormal repetitive mannerism... |
OMIM:619325 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abdominal distention, Progressive gait ataxia |
ORPHA:309263 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Apnea, Segmental peripheral demyelination/remyelination, Dyspnea, Sensorineural hearing i... |
ORPHA:255210 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Ileal atresia, Abdominal distention, Elevated... |
OMIM:619351 |
Charge Syndrome |
|
Aqueductal stenosis, Feeding difficulties in infancy, Hypoplasia of the semicircular canal, Gastr... |
ORPHA:138 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Median cleft lip and palate, Hypoplasia of the premaxil... |
OMIM:610828 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pseudobulbar paralysis, Infantile sensorineural hearing impairment, G... |
ORPHA:268943 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... |
OMIM:600501 |
Holoprosencephaly |
|
Feeding difficulties in infancy, Deep philtrum, Gastroesophageal reflux, Holoprosencephaly, Encep... |
ORPHA:2162 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Respiratory distress, Camptodactyly of finger, ... |
OMIM:166250 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... |
ORPHA:99104 |
Floating-Harbor Syndrome |
|
Enlarged joints, Hypoplasia of the maxilla, Oligodontia, Gastroesophageal reflux, Short philtrum,... |
ORPHA:2044 |
Farber Disease |
|
Respiratory distress, Abnormality of the knee, Chronic diarrhea, Abnormality of the elbow, Respir... |
ORPHA:333 |
Dyggve-Melchior-Clausen Disease |
|
Hyperactivity, Respiratory insufficiency due to muscle weakness, Inability to walk, Protuberant a... |
ORPHA:239 |
Acquired Purpura Fulminans |
|
Hepatic failure, Acrocyanosis, Macular purpura |
ORPHA:49566 |
Velocardiofacial Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, Abnormality of the ear, Pierre-Robin s... |
OMIM:192430 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... |
ORPHA:50814 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Feeding difficulties in infancy, Abdominal distention, Stridor, Macroglossia, Constipation |
OMIM:218700 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ... |
ORPHA:96334 |
Atelosteogenesis, Type I |
|
Encephalocele, Micrognathia, Elbow dislocation, Cleft palate, Knee dislocation, Fused cervical ve... |
OMIM:108720 |
Wilson Disease |
|
Acute hepatic failure, Abdominal distention, Jaundice, Esophageal varix, Vomiting, Dysphagia, Hep... |
OMIM:277900 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Apnea, Aggressive behavior, Sensorineural hearing impairment, Unsteady gait... |
ORPHA:17 |
Restrictive Dermopathy 1 |
|
Natal tooth, Limb joint contracture, Micrognathia, Wide anterior fontanel, Submucous cleft hard p... |
OMIM:275210 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Abnormality of cartilage of external ear, Hypoplasia of the maxilla, Cupped ear, Low-set ears |
ORPHA:2399 |
Intellectual Disability-Short Stature-Hypertelorism Syndrome |
|
Hypoplasia of the zygomatic bone, Long philtrum |
ORPHA:3074 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Abnormal dental enamel morphology, Micrognathia, Dyspnea, Hydrocephalus, Er... |
ORPHA:2556 |
Atelosteogenesis Type Ii |
|
Thin upper lip vermilion, Bilateral cleft palate, Cleft palate, Protuberant abdomen, Long philtru... |
ORPHA:56304 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Progeroid facial appearance, Hypoplasia of the maxilla, Neonatal wrinkled ... |
OMIM:231070 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Fanconi-Bickel Syndrome |
|
Abdominal distention, Hepatic failure |
ORPHA:2088 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Respiratory distress, Wide cranial sutures, Feeding difficulties, Ga... |
OMIM:618188 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Abdominal pain, Hematemesis, Dyspnea, Diarrhea, Melen... |
ORPHA:340 |
Double Outlet Left Ventricle |
|
Cyanosis, Tachypnea, Orofacial cleft |
ORPHA:3427 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Colitis, Steatorrhea |
ORPHA:309031 |
Moderate Hemophilia A |
|
Gastrointestinal hemorrhage, Arthropathy, Hip contracture, Cartilage destruction, Synovitis, Spon... |
ORPHA:169805 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Spina bifida, Hiatus hernia, Cleft upper lip, Part... |
OMIM:304050 |
Currarino Syndrome |
|
Anal stenosis, Perianal abscess, Gastrointestinal obstruction, Abdominal distention, Chronic cons... |
OMIM:176450 |
Distal Deletion 19P |
|
Low-set, posteriorly rotated ears, Hypoplasia of the maxilla, Sensorineural hearing impairment, C... |
ORPHA:96129 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Camptodactyly of finger, Abnormality of the dentition, Feeding diffi... |
ORPHA:3206 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Secretory diarrhea |
OMIM:214700 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Gastritis, Pneumonia, Malabsorption, Ileus, Secretory diarrhea, Urticaria, ... |
ORPHA:37042 |
Diamond-Blackfan Anemia |
|
Cleft soft palate, Micrognathia, Cleft lip, Microtia, High palate, Low-set ears, Adenocarcinoma o... |
ORPHA:124 |
Listeriosis |
|
Respiratory distress, Miscarriage, Ataxia, Pneumonia, Abdominal pain, Diarrhea, Peritonitis, Jaun... |
ORPHA:533 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Restlessness, Oral-pharyngeal dysphagia, Dysmetria, Athetosis, Low-set ears... |
OMIM:615273 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
Ollier Disease |
|
Multiple enchondromatosis, Abnormal cartilage morphology |
ORPHA:296 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Rectal atresia, Small thenar eminence, Neonatal death, Anal atresia |
OMIM:613390 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Vomiting |
OMIM:251000 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ataxia, Dental crowding, Impulsivity, Aggressive behavior, Dysplastic corpus callosum, High, narr... |
OMIM:300967 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
Classical Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Rectal prolapse, Osteoarthritis, Shoulder dislocation... |
ORPHA:287 |
Mucopolysaccharidosis, Type Vii |
|
Gingival overgrowth, Macroglossia, Widely spaced teeth, Protuberant abdomen, Airway obstruction |
OMIM:253220 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Inability to walk, Hydrocephalus, Optic atrophy, Stridor, Macroglossia, Thi... |
ORPHA:505248 |
Mucolipidosis Type Ii |
|
Respiratory failure requiring assisted ventilation, Inability to walk, Gingival overgrowth, Strid... |
ORPHA:576 |
Dpagt1-Cdg |
|
Ataxia, Akinesia, Aggressive behavior, Inability to walk, Optic atrophy, Head-banging, Feeding di... |
ORPHA:86309 |
Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Hypoplasia of the maxilla, Oligodontia, Short philtrum, Thick vermilion bo... |
OMIM:609460 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Protuberant abdomen, Enamel hypoplasia, Difficulty walking |
ORPHA:289157 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, X... |
ORPHA:238468 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Aganglionic megacolon, Abdominal distention, Abnormal tongue... |
ORPHA:653 |
Hardikar Syndrome |
|
Intestinal malrotation, Cleft soft palate, Abdominal pain, Celiac disease, Hematemesis, Vertigo, ... |
OMIM:301068 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Myopathy, Stillbirth, Tongue fasciculations, Death in childhood, Neonatal death... |
OMIM:614922 |
Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Posteriorly rotated ears, Gastroparesis, Tarsal synostosis, Congenital sensori... |
OMIM:157800 |
Spondyloepiphyseal Dysplasia Tarda |
|
Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Limited wrist movemen... |
ORPHA:93284 |
Myhre Syndrome |
|
Mandibular prognathia, Vertebral fusion, Thin upper lip vermilion, Ataxia, Hypoplasia of the maxi... |
OMIM:139210 |
Aceruloplasminemia |
|
Akinesia, Ataxia, Limb ataxia, Gait ataxia |
ORPHA:48818 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Long philtrum |
ORPHA:50810 |
Achondrogenesis, Type Ia |
|
Stillbirth, Protuberant abdomen, Protruding tongue |
OMIM:200600 |
Wiedemann-Rautenstrauch Syndrome |
|
Abnormality of the ear, Downturned corners of mouth, Short philtrum, Premature loss of teeth, Age... |
ORPHA:3455 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Reduced subcutaneous adipose tissue, Mandibular prognathia, Prominent superficial veins, Dental c... |
OMIM:617402 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cyanosis, Congenital hip dislocation, Block vertebrae, Aqueductal stenosis,... |
OMIM:306955 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Erosion of oral mucosa, Abnormal oral mucosa morphology, Pneumonia, Dyspnea... |
ORPHA:79404 |
Familial Dysautonomia |
|
Orthostatic hypotension, Ataxia, Feeding difficulties in infancy, Optic atrophy, Gastroesophageal... |
ORPHA:1764 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Limited elbow movement, Micrognathia, Feeding difficulties in infancy, Hy... |
OMIM:261540 |
Dyskeratosis Congenita |
|
Esophageal stenosis, Telangiectasia of the skin, Malabsorption, Hypoplasia of the maxilla, Cariou... |
ORPHA:1775 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Abn... |
ORPHA:3047 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... |
ORPHA:980 |
Hurler Syndrome |
|
Gingival overgrowth, Macroglossia, Thick vermilion border, Protuberant abdomen, Microdontia |
OMIM:607014 |
Plague |
|
Respiratory distress, Chapped lip, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Unsteady gait... |
ORPHA:707 |
Methylmalonic Aciduria, Cblb Type |
|
Feeding difficulties in infancy, Vomiting, Respiratory distress |
OMIM:251110 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Epistaxis, Carious teeth, Diarrhea, Oral ulcer, Gingivitis, Enterocolitis, Ulcerative colitis, In... |
ORPHA:79259 |
Cranioectodermal Dysplasia 1 |
|
High, narrow palate, Ectodermal dysplasia, High palate, Widely spaced teeth, Everted lower lip ve... |
OMIM:218330 |
Mucolipidosis Ii Alpha/Beta |
|
Recurrent pneumonia, Gingival overgrowth, Wide mouth, Macroglossia, Death in childhood, Tip-toe g... |
OMIM:252500 |
Opsismodysplasia |
|
Respiratory insufficiency, Protuberant abdomen, Long philtrum |
OMIM:258480 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Hypoplasia of the maxilla, Ca... |
OMIM:129900 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Cutis marmorata, Delayed closure of the anterior fontanelle, Sensorineural... |
OMIM:303600 |
Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Abdominal distention, Wh... |
ORPHA:97214 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Gastrointestinal dys... |
ORPHA:2152 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:274150 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Micrognathia, Pyloric stenosis, Contracture of the distal interphalangeal j... |
ORPHA:83617 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Partial agenesis of the corpus callosum, Cyanosis, Low-set ears |
OMIM:617478 |
Hajdu-Cheney Syndrome |
|
Intestinal malrotation, Micrognathia, Absent frontal sinuses, Open bite, Abnormality of the denti... |
ORPHA:955 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Malar flattening, Hypoplasia of the zygomatic bone |
ORPHA:2835 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... |
OMIM:610655 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Hypoplasia of the abdominal wall muscul... |
OMIM:612289 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Neonatal death, Narrow mouth, Peripheral axonal neuropathy, Micrognathia |
OMIM:618810 |
Supranuclear Palsy, Progressive, 2 |
|
Falls, Gait imbalance, Akinesia, Dysphagia |
OMIM:609454 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Thin upper lip vermilion, Hypoplasia of the zygomatic bone, Genu valgum |
ORPHA:1295 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Feeding difficulties in infancy, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
Adult-Onset Still Disease |
|
Abdominal pain, Cartilage destruction, Erythema, Joint swelling, Arthritis, Restrictive ventilato... |
ORPHA:829 |
Greenberg Dysplasia |
|
Micrognathia, Hypoplasia of the maxilla, Costal cartilage calcification, Stillbirth, Protuberant ... |
OMIM:215140 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo... |
ORPHA:31204 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormality of the philtrum, Hypoplasia of the premaxilla, Abnormal oral m... |
ORPHA:2673 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Bloody diarrhea, Rectal abs... |
ORPHA:436252 |
Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Elbow flexion contracture, Narrow palate, High palate, Protuberant abd... |
OMIM:608328 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, D... |
ORPHA:210122 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Posteriorly rotated ears, Asymmetry of the ears, Persistence of primar... |
OMIM:300166 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Akinesia |
OMIM:616840 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Optic nerve hypoplasia, Intestinal malrotation, Cleft soft palate, Flexion contracture, Optic atr... |
OMIM:619321 |
Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality, Abnormality of the dentition |
ORPHA:349 |
Ablepharon Macrostomia Syndrome |
|
Camptodactyly of finger, Hypoplasia of the maxilla, Wide mouth, Excessive wrinkled skin, Microtia... |
ORPHA:920 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Stomatitis, Fused cervical vertebrae, Joint swelling, Respiratory distress |
OMIM:612852 |
Pallister-Hall Syndrome |
|
Natal tooth, Posteriorly rotated ears, Cleft upper lip, Radial head subluxation, Hip dislocation,... |
OMIM:146510 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Short philtrum, Abno... |
ORPHA:261537 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Waddling gait, Respiratory distress, Enlargement of the ankles, Nasogastric tube feeding in infan... |
ORPHA:99646 |
Q Fever |
|
Respiratory distress, Pneumonia, Anorexia, Cough, Pleural effusion, Purpura |
ORPHA:781 |
Multiple Osteochondromas |
|
Abnormality of the knee, Intestinal obstruction, Peripheral nerve compression, Abnormal cartilage... |
ORPHA:321 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion, Hepatic failure |
ORPHA:292 |
Colchicine Poisoning |
|
Respiratory distress, Diarrhea, Cardiorespiratory arrest, Vomiting, Nausea |
ORPHA:31824 |
Isolated Arrhinia |
|
Respiratory distress, Microtia, Hypoplasia of the nasal bone, Absent nasal septal cartilage |
ORPHA:1134 |
Isolated Congenital Alacrima |
|
Achalasia |
ORPHA:91416 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Pancreatic endocrine tumor... |
ORPHA:805 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Low-set, posteriorly rotated ears, Intestinal malrotation, Hypoplasia of the prema... |
ORPHA:2166 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Broad-based gait, Feeding difficulties in infancy, Submucous cleft hard palate, Ankle clonus, Dys... |
OMIM:618891 |
Holoprosencephaly 2 |
|
Median cleft lip and palate, Aplasia of the premaxilla, Alobar holoprosencephaly, Submucous cleft... |
OMIM:157170 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Thin vermilion border, Optic atrophy, Hypoplasia of the zygomatic bone, Long philtrum |
OMIM:614800 |
Saethre-Chotzen Syndrome |
|
Prominent crus of helix, Hypoplasia of the maxilla, Cleft of chin, Narrow palate, Cleft palate, R... |
OMIM:101400 |
Methylmalonic Aciduria, Cbla Type |
|
Feeding difficulties in infancy, Vomiting, Respiratory distress |
OMIM:251100 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Short philtrum, Agen... |
ORPHA:261552 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Median cleft lip, Accessory oral frenulum, Supernumerary tooth, Aplasia of ... |
OMIM:617088 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Microretrognathia, Death in childhood, Low-set ears, Long philtrum, Neonatal death |
OMIM:614052 |
Bartsocas-Papas Syndrome 1 |
|
Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Cupped ear, Cleft palate... |
OMIM:263650 |
Primrose Syndrome |
|
Hypoplasia of the maxilla, Knee flexion contracture, Downturned corners of mouth, Tics, High pala... |
OMIM:259050 |
Leprosy |
|
Epistaxis, Abnormality of the seventh cranial nerve, Abnormal facial skeleton morphology, Steppag... |
ORPHA:548 |
Supranuclear Palsy, Progressive, 1 |
|
Falls, Gait imbalance, Akinesia, Dysphagia |
OMIM:601104 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Hypoplasia of ... |
OMIM:604292 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Neonatal death, Esophageal atresia, Tracheoesophageal fistula, Low-set ears |
OMIM:619859 |
Poems Syndrome |
|
Papilledema, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pu... |
ORPHA:2905 |
Primary Hyperoxaluria |
|
Optic disc pallor, Cutis marmorata, Abnormality of the dentition, Optic atrophy, Rootless teeth, ... |
ORPHA:416 |
African Trypanosomiasis |
|
Papilledema, Miscarriage, Akinesia, Aggressive behavior, Myelopathy, Diarrhea, Jaundice, Choreoat... |
ORPHA:3385 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Pneumonia, Abdominal distention, Jaundice, Malnutrition, Dependency on parente... |
OMIM:619991 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the maxilla, High, narrow palate, A... |
ORPHA:1101 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Abdominal distention, Anal atresia |
OMIM:271520 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Low-set, posteriorly rotated ears, Respiratory distress, Thin upper lip vermilion, Congenital hip... |
ORPHA:480880 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:2519 |
Neuroocular Syndrome |
|
Scapular winging, Genu recurvatum, Unilateral deafness, Short uvula, Submucous cleft hard palate,... |
OMIM:619539 |
Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Abdominal pain, Abnormality of the periph... |
ORPHA:48435 |
Gitelman Syndrome |
|
Nausea and vomiting, Respiratory distress, Salt craving, Abdominal pain, Vertigo, Diarrhea, Gout,... |
ORPHA:358 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
Williams Syndrome |
|
Micrognathia, Rectal prolapse, Dysmetria, Protruding ear, Gastroesophageal reflux, Compulsive beh... |
ORPHA:904 |
Leptospirosis |
|
Nausea and vomiting, Respiratory distress, Anorexia, Abdominal pain, Jaundice, Diarrhea, Cough, P... |
ORPHA:509 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Sensorineural hearing impairment |
OMIM:122880 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Abdominal distention, Submuco... |
OMIM:235730 |
Alkaptonuria |
|
Joint dislocation, Cartilage destruction, Hearing abnormality, Osteoarthritis, Arthritis, Joint s... |
ORPHA:56 |
Coccidioidomycosis |
|
Respiratory distress, Pneumonia, Hydrocephalus, Peritonitis, Arthritis, Pleural empyema, Cough, E... |
ORPHA:228123 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Abdominal distention, Rectal prolapse, Megarectum, Thick ver... |
ORPHA:508 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Progeroid facial appearance, Thick lower lip vermilion, Erythema, Death in adolescence, Premature... |
OMIM:256040 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Posteriorly rotated ears, Micrognathia, Dyspnea, Submucous cleft hard palate, Cleft palate, Abnor... |
ORPHA:2636 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea |
OMIM:115197 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Abnormal pinna morphology, Micrognathia, High palate, Low-set ears,... |
OMIM:614437 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Long philtrum, Protuberant abdomen, Protruding tongue |
ORPHA:50945 |
Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Oral ulcer, Protuberant abdomen |
OMIM:232220 |
Goodpasture Syndrome |
|
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... |
OMIM:233450 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax |
OMIM:620306 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Abnormal pinna morphology, Micrognathia, Humeroradial synostosis, Pneumotho... |
ORPHA:3404 |
Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Micrognathia, Low-set ears, Neonatal death, Diaphragmatic eventr... |
OMIM:601186 |
Restrictive Dermopathy |
|
Natal tooth, Multiple joint contractures, Camptodactyly of finger, Micrognathia, Narrow mouth, Su... |
ORPHA:1662 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Cleft upper lip, Esophageal atresia, Abdominal distention, Respiratory insufficiency, Ectopic anu... |
ORPHA:93271 |
Pyknoachondrogenesis |
|
Abdominal distention, Abnormality of mouth shape |
ORPHA:3003 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Anotia, Conductive hearing impa... |
OMIM:164210 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Neonatal death, Natal tooth |
OMIM:609638 |
Mednik Syndrome |
|
Death in infancy, Jejunal atresia, Sensorineural hearing impairment, Death in childhood, Neonatal... |
OMIM:609313 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Intestinal malrotation |
OMIM:616749 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea |
ORPHA:99050 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress, Steatorrhea |
OMIM:260400 |
Dermatomyositis |
|
Telangiectasia of the skin, Gastrointestinal stroma tumor, Feeding difficulties in infancy, Eryth... |
ORPHA:221 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Death in infancy, Hearing impairment |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Death in infancy, Hearing impairment |
OMIM:618839 |
Glycogen Storage Disease Ia |
|
Intermittent diarrhea, Protuberant abdomen |
OMIM:232200 |
Singleton-Merten Syndrome 1 |
|
Waddling gait, Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Hip dislocatio... |
OMIM:182250 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Abdominal distention, Jaundice, Asthma, Esophageal varix, Everted lower lip vermilion, Gastroesop... |
OMIM:619534 |
Ablepharon-Macrostomia Syndrome |
|
Microtia, third degree, Microtia, first degree, Anteriorly placed anus, Short upper lip, Wide mou... |
OMIM:200110 |
Neu-Laxova Syndrome 1 |
|
Micrognathia, Swollen lip, Cleft upper lip, Macrotia, Thick lower lip vermilion, Cleft palate, St... |
OMIM:256520 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Narrow mouth... |
OMIM:614748 |
Cardiac Valvular Dysplasia 2 |
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Central cyanosis |
OMIM:620067 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Meckel diverticulum, Intestinal malrotation, Diastasis recti, Micrognathia, Esophageal atresia, C... |
OMIM:265380 |
Weill-Marchesani Syndrome 1 |
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Hypoplasia of the maxilla, Tooth malposition, Narrow palate |
OMIM:277600 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
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Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:3044 |
Reactive Arthritis |
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Abdominal pain, Cartilage destruction, Diarrhea, Respiratory insufficiency, Arthritis, Inflammati... |
ORPHA:29207 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
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Abnormal cartilage matrix, Partial agenesis of the corpus callosum, Diffuse axonal swelling |
ORPHA:86822 |
Atresia Of Urethra |
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Abdominal distention |
ORPHA:105 |
Congenital Total Pulmonary Venous Return Anomaly |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... |
ORPHA:99125 |
Aicardi-Goutières Syndrome |
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Cutis marmorata, Arthritis, Prolonged neonatal jaundice, Difficulty walking, Low-set ears, Acrocy... |
ORPHA:51 |
Encephalocraniocutaneous Lipomatosis |
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Craniofacial hyperostosis, Abnormal cartilage morphology, Pulmonary arterial hypertension, Osteoc... |
ORPHA:2396 |
Denys-Drash Syndrome |
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Posterolateral diaphragmatic hernia, Wide anterior fontanel, Neonatal death, Congenital diaphragm... |
OMIM:194080 |
Scimitar Syndrome |
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Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough |
ORPHA:185 |
Hyperoxaluria, Primary, Type I |
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Cutis marmorata, Acrocyanosis, Optic atrophy, Optic neuropathy |
OMIM:259900 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
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Protuberant abdomen |
OMIM:618019 |
Pmm2-Cdg |
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Mandibular prognathia, Respiratory distress, Thin upper lip vermilion, Abnormal pinna morphology,... |
ORPHA:79318 |
Axenfeld-Rieger Syndrome, Type 1 |
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Thin upper lip vermilion, Anal stenosis, Hypoplasia of the maxilla, Oligodontia, Short philtrum, ... |
OMIM:180500 |
Alström Syndrome |
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Respiratory distress, Abnormality of dental color, Gingivitis, Gastroesophageal reflux, Otitis me... |
ORPHA:64 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Respiratory distress, Intermittent diarrhea, Intestinal malrotation, Feeding difficulties |
ORPHA:2255 |
Truncus Arteriosus |
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Cyanosis, Tachypnea |
ORPHA:3384 |
Cardiac Valvular Dysplasia 1 |
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Cyanosis |
OMIM:212093 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Waddling gait, Hypoplasia of the maxilla, Flat acetabular roof, Delayed ossification of carpal bo... |
OMIM:300106 |
Congenitally Corrected Transposition Of The Great Arteries |
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Cyanosis |
ORPHA:216694 |
Sacral Agenesis With Vertebral Anomalies |
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Neonatal death, Anal atresia, Persistent cloaca |
OMIM:615709 |