Perching Syndrome |
|
High palate, Feeding difficulties, Dysphagia, Respiratory distress, Cyanosis |
OMIM:617055 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormal pinna ... |
OMIM:128980 |
Isolated Congenital Hypoglossia/Aglossia |
|
Dyspnea, Aspiration pneumonia, Feeding difficulties, Cleft palate, Respiratory distress, Upper ai... |
ORPHA:141152 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Hypoplasia of the antihelix, Conductive hearing impairment, External ear malformation, Abnormal a... |
ORPHA:3232 |
Laryngotracheal Angioma |
|
Intercostal retractions, Feeding difficulties, Vomiting, Cough, Apnea, Respiratory distress, Cyan... |
ORPHA:137935 |
Pierre Robin Syndrome |
|
Neonatal respiratory distress, Feeding difficulties in infancy, Cleft palate, Upper airway obstru... |
OMIM:261800 |
Trehalase Deficiency |
|
Malabsorption, Abdominal distention, Abdominal pain, Diarrhea, Vomiting |
ORPHA:103909 |
Congenital Pancreatic Cyst |
|
Jaundice, Anorexia, Abdominal distention, Abdominal pain, Vomiting |
ORPHA:313906 |
Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Feeding difficulties, Death in infancy, Apnea |
OMIM:610992 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal colic, Abdominal distention, Diarrhea, Vomiting |
ORPHA:35122 |
Auriculocondylar Syndrome 2 |
|
Snoring, Overfolding of the superior helices, Hearing impairment, Cleft palate, Narrow mouth, Mic... |
OMIM:614669 |
Intestinal Dysmotility Syndrome |
|
High palate, Feeding difficulties, Broad philtrum, Abdominal distention, Decreased intestinal tra... |
OMIM:620045 |
Orofacial Cleft 11 |
|
Cleft palate, Cleft lip |
OMIM:600625 |
Laryngotracheoesophageal Cleft |
|
Impaired oropharyngeal swallow response, Neonatal respiratory distress, Aspiration, Dyspnea, Stri... |
ORPHA:2004 |
Primary Effusion Lymphoma |
|
Abdominal pain, Pleural effusion, Dyspnea, Abdominal distention |
ORPHA:48686 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Dyspnea, Inability to walk, Aspiration pneumonia, Cough... |
ORPHA:90117 |
Neuralgic Amyotrophy |
|
Respiratory insufficiency, Narrow mouth, Acrocyanosis, Cleft palate |
ORPHA:2901 |
Deafness, Progressive, With Stapes Fixation |
|
Bilateral conductive hearing impairment, Stapes ankylosis |
OMIM:601449 |
Deafness-Hypogonadism Syndrome |
|
Abnormality of the internal auditory canal, Conductive hearing impairment, Abnormality of the mid... |
ORPHA:90646 |
Progressive Deafness With Stapes Fixation |
|
Bilateral conductive hearing impairment, Stapes ankylosis |
ORPHA:3235 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Malabsorption, Abdominal distention, Dyspepsia, Abdominal pain, Nausea, Decreased small intestina... |
ORPHA:103907 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Low-set ears, Gastroesophageal reflux, Stapes ankylosis, Lobar holoprosencephaly, Submucous cleft... |
OMIM:614701 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
Lethal Osteosclerotic Bone Dysplasia |
|
Low-set ears, Dyspnea, Retrognathia, Median cleft lip and palate, Posteriorly rotated ears, Gingi... |
ORPHA:1832 |
Symphalangism, Proximal, 1A |
|
Conductive hearing impairment, Stapes ankylosis, Proximal symphalangism of hands, Distal symphala... |
OMIM:185800 |
Achalasia-Microcephaly Syndrome |
|
Mandibular prognathia, Achalasia, Macrotia, Micrognathia |
ORPHA:929 |
Deafness, X-Linked 2 |
|
Conductive hearing impairment, Stapes ankylosis, Mixed hearing impairment, Progressive sensorineu... |
OMIM:304400 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Isolated Pierre Robin Syndrome |
|
Upper airway obstruction, Neonatal respiratory distress, Glossoptosis, Cleft palate |
ORPHA:718 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis, Proximal/middle sym... |
OMIM:184460 |
Isolated Polycystic Liver Disease |
|
Gastroesophageal reflux, Respiratory insufficiency, Abdominal distention, Abdominal pain, Gastroi... |
ORPHA:2924 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy, Feeding difficulties |
OMIM:616341 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Cryptogenic Organizing Pneumonia |
|
Dyspnea, Restrictive ventilatory defect, Cough, Anorexia, Hypoxemia, Respiratory distress, Crackl... |
ORPHA:1302 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillar PAS-positive secretory granules, Villous atrophy, Abdominal distention, Dependency on... |
OMIM:619445 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Dysphagia, Respiratory d... |
OMIM:605809 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Dysphagia, Respiratory d... |
OMIM:254210 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Death in adolescence, Neonatal death, Dysphagia, Respiratory dis... |
OMIM:619751 |
Congenital Myopathy 10A, Severe Variant |
|
High palate, Gastroesophageal reflux, Restrictive ventilatory defect, Respiratory insufficiency, ... |
OMIM:614399 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Adiposis Dolorosa |
|
Constipation, Abdominal distention, Painful subcutaneous lipomas |
OMIM:103200 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Triple A Syndrome |
|
Motor axonal neuropathy, Ataxia, Respiratory insufficiency, Achalasia, Sensorineural hearing impa... |
ORPHA:869 |
Congenital Myasthenic Syndrome |
|
Narrow jaw, Poor suck, Cyanosis, Nasal regurgitation, Ataxia, Obstructive sleep apnea, Microretro... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Narrow jaw, Poor suck, Cyanosis, Nasal regurgitation, Ataxia, Obstructive sleep apnea, Microretro... |
ORPHA:98914 |
Thyroid Hemiagenesis |
|
Macroglossia, Jaundice, Abdominal distention, Constipation |
ORPHA:95719 |
Cleft Velum |
|
Nasal regurgitation, Aspiration pneumonia, Conductive hearing impairment, Recurrent otitis media,... |
ORPHA:99772 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Cleft Lip/Palate |
|
Abnormality of dental eruption, Conductive hearing impairment, Unilateral cleft palate, Abnormal ... |
ORPHA:199306 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Dyspnea, Abdominal distention |
OMIM:174050 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Feeding difficulties, Widely spaced teeth, Joint dislocation, Respiratory distress, Macrotia, Mic... |
OMIM:300934 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
Chronic Pneumonitis Of Infancy |
|
Intercostal retractions, Hyperventilation, Cough, Hypoxemia, Respiratory distress, Reduced forced... |
ORPHA:91359 |
Tetrasomy 18P |
|
Low-set, posteriorly rotated ears, Gait disturbance, Achalasia, Narrow mouth, Long philtrum, Thin... |
ORPHA:3307 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ataxia, Malabsorption, Abdominal distention, Abdominal pain, Constipation, Gastrointestinal dysmo... |
OMIM:613662 |
Fetal Akinesia Deformation Sequence 4 |
|
Low-set ears, Camptodactyly, High palate, Retrognathia, Posteriorly rotated ears, Skeletal muscle... |
OMIM:618393 |
Cleft Lip With Or Without Cleft Palate |
|
Chronic sinusitis, Feeding difficulties, Median cleft lip and palate, Median cleft lip, Non-midli... |
ORPHA:1991 |
Mullegama-Klein-Martinez Syndrome |
|
Low-set ears, Bifid uvula, Cleft lip, Atresia of the external auditory canal, Micrognathia, Cleft... |
OMIM:301022 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Abnormality of enteric ganglion morphology, Abdominal distention, Aganglionic megacolon, Constipa... |
OMIM:142623 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cough, Respiratory distress, Respiratory failure, Tachypnea, Cyanosis |
OMIM:263000 |
Volvulus Of Midgut |
|
Neonatal intestinal obstruction, Volvulus, Abdominal distention, Constipation, Intestinal malrota... |
OMIM:193250 |
Auriculocondylar Syndrome |
|
Snoring, Bifid uvula, Difficulty in tongue movements, Abnormality of the temporomandibular joint,... |
ORPHA:137888 |
Dystonia, Juvenile-Onset |
|
Pseudobulbar paralysis, Loss of ambulation, Achalasia, Cleft palate, Dysphagia, Sensorineural hea... |
OMIM:607371 |
Hypoglossia With Situs Inversus |
|
High palate, Respiratory distress, Narrow mouth, Upper airway obstruction, Microglossia, Hypodont... |
OMIM:612776 |
Laryngeal Abductor Paralysis |
|
Dysphagia, Stridor, Cyanosis |
OMIM:150260 |
Recurrent Respiratory Papillomatosis |
|
Tracheomalacia, Dyspnea, Tachypnea, Stridor, Respiratory insufficiency, Dysphagia, Upper airway o... |
ORPHA:60032 |
Legg-Calvé-Perthes Disease |
|
Cartilage destruction, Skeletal muscle atrophy, Joint dislocation, Abnormality of the dentition |
ORPHA:2380 |
Small Bowel Atresia |
|
Feeding difficulties, Intestinal hypoplasia, Jejunal atresia, Abdominal distention, Intestinal ma... |
ORPHA:1201 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Hip dislocation, Bilateral sensorineural hearing impairment, Achalasia, Prelingual sensorineural ... |
ORPHA:436174 |
Choanal Atresia |
|
Tracheomalacia, Chronic sinusitis, Feeding difficulties, Respiratory distress, Upper airway obstr... |
ORPHA:137914 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory insufficiency, Tongue fasciculations, Feeding difficulties in infancy, Respiratory di... |
ORPHA:238329 |
Otosclerosis 7 |
|
Progressive hearing impairment, Conductive hearing impairment, Childhood onset sensorineural hear... |
OMIM:611572 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Gastroesophageal reflux, Dyspnea, Aspiration pneumonia, Esophageal stenosis, Cough, Hypoperistals... |
ORPHA:1018 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Macroglossia, High palate, Ventilator dependence with inability to wean, Respiratory distress, Po... |
ORPHA:254864 |
2q33.1 deletion syndrome |
|
Feeding difficulties in infancy, High palate, Cleft palate |
DECIPHER:51 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Frontalis muscle weakness, Respiratory insufficiency due to muscle weakness, Respiratory distress... |
OMIM:300580 |
Bronchopulmonary Dysplasia |
|
Dyspnea, Abnormal respiratory system physiology, Cough, Chronic lung disease, Respiratory distres... |
ORPHA:70589 |
Scleromyxedema |
|
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Hypoperistalsis, Generalized ... |
ORPHA:167635 |
Schinzel-Giedion Syndrome |
|
Abnormal cochlea morphology, Large earlobe, Broad alveolar ridges, Abnormality of the stapes, Wid... |
ORPHA:798 |
Carey-Fineman-Ziter Syndrome 2 |
|
Low-set ears, Abnormal skeletal muscle morphology, Protruding ear, Hypomimic face, Weakness of fa... |
OMIM:619941 |
Visceral Myopathy 2 |
|
Intestinal malrotation, Gastroesophageal reflux, Megaduodenum, Chronic constipation, Hiatus herni... |
OMIM:619350 |
Athyreosis |
|
Macroglossia, Abdominal distention, Feeding difficulties, Constipation |
ORPHA:95713 |
Folinic Acid-Responsive Seizures |
|
Difficulty walking, Ataxia, Abdominal distention, Apnea, Respiratory distress, Broad-based gait |
ORPHA:79097 |
Multiple Synostoses Syndrome 1 |
|
Conductive hearing impairment, Stapes ankylosis, Proximal/middle symphalangism of 4th finger, Dis... |
OMIM:186500 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Low-set ears, Hypercapnia, Feeding difficulties, Chronic constipation, Posteriorly rotated ears, ... |
OMIM:209880 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Ataxia |
OMIM:619099 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Macroglossia, Protuberant abdomen, Abdominal distention, Prolonged neonatal jaundice, Constipatio... |
ORPHA:226313 |
Congenital Myopathy 9A |
|
Akinesia, Tongue fasciculations, Death in infancy, Obstructive sleep apnea |
OMIM:618822 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Low-set ears, Gastroesophageal reflux, Feeding difficulties, Achalasia, Cleft palate, Oral aversi... |
OMIM:600987 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in childhood, Death in infancy, Neonatal death, Respiratory failure, Akinesia |
OMIM:619334 |
Cap Polyposis |
|
Hematochezia, Colorectal polyposis, Abdominal distention, Abdominal pain, Constipation, Atrophic ... |
ORPHA:160148 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Ventilator dependence with inability to wean, Restlessness, Difficulty walking, Respiratory insuf... |
ORPHA:100924 |
Mungan Syndrome |
|
Megaduodenum, Hypoperistalsis, Abdominal pain, Gastroparesis, Intestinal pseudo-obstruction, Barr... |
OMIM:611376 |
Pleural Mesothelioma |
|
Dyspnea, Abnormal respiratory system physiology, Cough, Dysphagia, Respiratory distress, Pleural ... |
ORPHA:50251 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Low-set ears, High palate, Retrognathia, Facial diplegia,... |
OMIM:611890 |
Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Steatorrhea, Abdominal distention, Decreased intestinal tra... |
OMIM:615237 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Decreased sensory nerve conduction velocity, Ataxia, Achalasia, Flexion contracture of finger, Pe... |
OMIM:609033 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Macroglossia, Death in early adulthood, Achalasia, Dysphagia, Sensorineural hearing impairment, O... |
ORPHA:79107 |
Craniosynostosis And Dental Anomalies |
|
Chronic otitis media, High palate, Prominent metopic ridge, Conductive hearing impairment, Corona... |
OMIM:614188 |
Chromosome 22Q11.2 Duplication Syndrome |
|
Low-set ears, High palate, Abnormal pinna morphology, Velopharyngeal insufficiency, Micrognathia |
OMIM:608363 |
X-Linked Centronuclear Myopathy |
|
High palate, Inability to walk, Respiratory distress, Poor suck, Pneumonia, Respiratory failure r... |
ORPHA:596 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Gastroesophageal reflux, Chronic pulmonary obstruction, Cough, R... |
ORPHA:2414 |
Malaria |
|
Respiratory distress, Nausea and vomiting, Gait imbalance |
ORPHA:673 |
Severe Acute Respiratory Syndrome |
|
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Chronic lung disea... |
ORPHA:140896 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspnea, Death in infancy, Apnea,... |
OMIM:265120 |
Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Dyspnea, Ileus, Abdominal distention |
ORPHA:168811 |
Multiple Synostoses Syndrome 4 |
|
Tarsal synostosis, Otosclerosis |
OMIM:617898 |
Mucopolysaccharidosis, Type Ix |
|
Chondrocalcinosis, Popliteal synovial cyst, Bifid uvula, Submucous cleft hard palate, Acetabular ... |
OMIM:601492 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Swollen lip, Erythema, Angioedema, Tongue edema, Respiratory distress, Upper airway obstruction, ... |
ORPHA:100057 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Neonatal respiratory distress, High palate, Feeding difficulties, Death in infancy, Respiratory d... |
OMIM:615042 |
Primary Peritoneal Carcinoma |
|
Constipation, Nausea and vomiting, Abdominal distention, Abdominal pain |
ORPHA:168829 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Dysphagia, Cutis marmorata, Achalasia, Livedo reticularis |
OMIM:615750 |
Adducted Thumbs Syndrome |
|
High palate, Respiratory insufficiency, High, narrow palate, Dysphagia, Cleft palate, Velopharyng... |
OMIM:201550 |
Gaucher Disease Type 2 |
|
Dysphagia, Respiratory distress, Cough, Abnormal pattern of respiration |
ORPHA:77260 |
Branchiogenic-Deafness Syndrome |
|
Abnormality of the middle ear ossicles, Mixed hearing impairment, Trismus, Submucous cleft hard p... |
OMIM:609166 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Central apnea, Choreoathetosis, Ataxia |
ORPHA:71277 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Gastroesophageal reflux, Feeding difficulties, Death in infancy, Respiratory distress, Poor suck,... |
OMIM:616974 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Achalasia, Acrocyanosis |
ORPHA:2400 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Low-set ears, Conductive hearing impairment, Feeding difficulties, Underdeveloped ... |
ORPHA:79113 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased sensory nerve conduction velocity, High palate, Inability to walk, Feeding difficulties... |
OMIM:218000 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Death in childhood, Dyspnea, Stridor, Ataxia, Ankle clonus, Respiratory insufficiency, Hearing im... |
OMIM:211530 |
Hereditary Angioedema Type 1 |
|
Abnormal soft palate morphology, Dyspnea, Dermatographic urticaria, Intestinal edema, Tongue edem... |
ORPHA:100050 |
Monosodium Glutamate Sensitivity |
|
Flushing, Dyspnea, Nausea |
OMIM:231630 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Achalasia, Sensorineural hearing impairment |
ORPHA:3239 |
Lethal Congenital Contracture Syndrome 3 |
|
Arthrogryposis multiplex congenita, Multiple joint contractures, Skeletal muscle atrophy, Neonata... |
OMIM:611369 |
Burning Mouth Syndrome |
|
Parageusia, Abnormal fifth cranial nerve morphology, Xerostomia, Strawberry tongue, Tongue pain, ... |
ORPHA:353253 |
Achondrogenesis, Type Ib |
|
Respiratory insufficiency, Abdominal distention, Stillbirth |
OMIM:600972 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Ventilator dependence with inability to wean, Difficulty walking, Respiratory insufficiency, Resp... |
ORPHA:254875 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Feeding difficulties in infancy, Vomiting, Apnea |
OMIM:240200 |
Permanent Congenital Hypothyroidism |
|
Macroglossia, Jaundice, Feeding difficulties, Abdominal distention, Constipation |
ORPHA:226292 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Asbestos Intoxication |
|
Dyspnea, Wheezing, Late inspiratory crackles, Decreased DLCO, Restrictive ventilatory defect, Hyp... |
ORPHA:2302 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Neonatal respiratory distress, Dyspnea, Cough, Paraseptal emphysema, Hypoxemia, Death in infancy,... |
OMIM:610921 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Low-set ears, Tachypnea, Restrictive ventilatory defect, Abnormal ... |
ORPHA:2257 |
Qazi-Markouizos Syndrome |
|
Open mouth, Chronic constipation, Hypoplasia of teeth, Broad philtrum, Abdominal distention, High... |
ORPHA:3010 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth, Bilateral conductive hea... |
OMIM:216300 |
Solar Urticaria |
|
Dyspnea, Abnormal lip morphology, Dermatographic urticaria, Angioedema, Abnormal tongue morpholog... |
ORPHA:97230 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hip dislocation, Congenital hip dislocation, Hydrocephalus, Achalasia, Mandibular prognathia, Dis... |
OMIM:616007 |
Osteogenesis Imperfecta, Type Iv |
|
Wormian bones, Dentinogenesis imperfecta, Otosclerosis, Hearing impairment |
OMIM:166220 |
Catifa Syndrome |
|
Gait disturbance, Tooth malposition, Cleft lip, Attention deficit hyperactivity disorder, Cleft p... |
OMIM:618761 |
Hereditary Methemoglobinemia |
|
Cyanosis, Lip discoloration, Exertional dyspnea, Athetosis |
ORPHA:621 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Inspiratory crackles, Dyspnea, Decreased DLCO, Restrictive ventilatory defect, Cough, Hypoxemia, ... |
OMIM:610910 |
Moebius Syndrome |
|
High palate, Abnormality of the dentition, Gait disturbance, Facial diplegia, Abnormal pinna morp... |
OMIM:157900 |
Maculopapular Cutaneous Mastocytosis |
|
Erythema, Dyspnea, Dermatographic urticaria, Darier's sign, Abdominal pain, Nausea, Diarrhea, Flu... |
ORPHA:79457 |
Glucose/Galactose Malabsorption |
|
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea |
OMIM:606824 |
Treacher Collins Syndrome 2 |
|
Conductive hearing impairment, Retrognathia, Malar flattening, Cleft palate, Microretrognathia, M... |
OMIM:613717 |
Acquired Methemoglobinemia |
|
Dyspnea, Hypoxemia, Abdominal pain, Respiratory distress, Cyanosis, Vomiting |
ORPHA:464453 |
American Trypanosomiasis |
|
Dyspnea, Cough, Achalasia, Abdominal pain, Aganglionic megacolon, Diarrhea, Abnormal large intest... |
ORPHA:3386 |
Restrictive Dermopathy 2 |
|
Gastroesophageal reflux, Feeding difficulties, Respiratory distress, Rectal prolapse, Cyanosis |
OMIM:619793 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Gastroesophageal reflux, Feeding difficulties, Chronic constipation, Difficulty walking, Aspirati... |
OMIM:619482 |
Congenital Myopathy 12 |
|
High palate, Feeding difficulties, Respiratory insufficiency due to muscle weakness, Death in inf... |
OMIM:612540 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Tachypnea, Restrictive ventilatory defect, Cough, Hypoxemia, Respiratory distress, Acute infectio... |
ORPHA:264675 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia, Falls |
ORPHA:240085 |
Immunodeficiency 70 |
|
Celiac disease, Achalasia, Colitis, Recurrent sinusitis |
OMIM:618969 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Hip dislocation, Feeding difficulties, Respiratory insufficiency due to muscle weakness, Knee fle... |
ORPHA:1143 |
Secondary Short Bowel Syndrome |
|
Polyphagia, Malabsorption, Steatorrhea, Volvulus, Villous atrophy, Abdominal distention, Aganglio... |
ORPHA:95427 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Dyspnea, Reduced FEV1/FVC ratio, Decreased DLCO, Cough, Decreased forced expiratory flow 25-75%, ... |
ORPHA:1303 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
Agnathia-Otocephaly Complex |
|
Low-set ears, Tracheomalacia, Conductive hearing impairment, Aglossia, Holoprosencephaly, Cleft p... |
OMIM:202650 |
Postsynaptic Congenital Myasthenic Syndromes |
|
High palate, Restrictive ventilatory defect, Reduced vital capacity, Respiratory failure, Cyanosi... |
ORPHA:98913 |
Primary Dystonia, Dyt4 Type |
|
Open mouth, Gait disturbance, Dysdiadochokinesis, Dysphagia, Respiratory distress, Movement abnor... |
ORPHA:98805 |
Orofaciodigital Syndrome Xix |
|
Low-set ears, High palate, Retrognathia, Additional crus of antihelix, Underfolded helix, Tongue ... |
OMIM:620107 |
Xq21 Microdeletion Syndrome |
|
Conductive hearing impairment, Stapes ankylosis, Ankle clonus, Bilateral sensorineural hearing im... |
ORPHA:1435 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Unsteady gait, Falls, Short stepped shuffling gait, Loss of ambulation, Gait imbalance, Neuromusc... |
ORPHA:240094 |
Myopathy And Diabetes Mellitus |
|
Inability to walk, Progressive cerebellar ataxia, Tip-toe gait, Peripheral axonal neuropathy, Res... |
ORPHA:2596 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Dyspnea, Chronic pulmonary obstruction, Cough, Respiratory distress, Bronchiectasis, Diarrhea, Pn... |
ORPHA:411703 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Coffin-Siris Syndrome 11 |
|
Uplifted earlobe, Esophageal atresia, High palate, Prominent metopic ridge, Bifid uvula, Downturn... |
OMIM:618779 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Neonatal respiratory distress, Feeding difficulties, Ataxia, Esophageal stenosis, Achalasia, Hear... |
OMIM:615510 |
Ovarian Fibroma |
|
Odontogenic keratocysts of the jaw, Abdominal distention, Pleural effusion, Abdominal pain |
ORPHA:314473 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Pulmonary arterial hypertension, Dyspnea, Gastroesophageal reflux, Cough, Abdominal distention, A... |
OMIM:620233 |
Tetrasomy 5P |
|
Low-set ears, High palate, Pulmonary arterial hypertension, Hydrocephalus, Posteriorly rotated ea... |
ORPHA:3309 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Feeding difficulties, Respiratory distress, Gait ataxia, Diarrhea, Vomiting |
OMIM:612075 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Respiratory insufficiency, Cough, Hypox... |
OMIM:610913 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Atrophic muscularis propria, Gastroesophageal reflux, Poor appetite, Abdominal distention, Abdomi... |
ORPHA:298 |
Sepsis In Premature Infants |
|
Jaundice, Dyspnea, Abnormal respiratory system physiology, Vomiting, Abdominal distention, Functi... |
ORPHA:90051 |
Marcus-Gunn Syndrome |
|
Abnormal fifth cranial nerve morphology, Cleft lip, Abnormal ear morphology, Cleft palate |
ORPHA:91412 |
Encephalopathy, Ethylmalonic |
|
Feeding difficulties, Ataxia, Death in infancy, Chronic diarrhea, Petechiae, Acrocyanosis |
OMIM:602473 |
Treacher Collins Syndrome 3 |
|
Conductive hearing impairment, Malar flattening, Cleft palate, Micrognathia, Hypoplasia of the zy... |
OMIM:248390 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Pyloric stenosis, Abdominal distention, Smooth philtrum, Fe... |
OMIM:300048 |
Chiari Malformation Type Ii |
|
Feeding difficulties, Ataxia, Dysphagia, Cyanosis, Inspiratory stridor |
OMIM:207950 |
Osteogenesis Imperfecta, Type I |
|
Wormian bones, Dentinogenesis imperfecta, Otosclerosis, Hearing impairment |
OMIM:166200 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Camptodactyly, Oligodontia, Conductive hearing impairment, Abnormality of the dentition, Mixed he... |
OMIM:616331 |
Gaucher Disease, Perinatal Lethal |
|
Low-set ears, Open mouth, Retrognathia, Everted lower lip vermilion, Dysphagia, Purpura, Narrow m... |
OMIM:608013 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal cranial nerve morphology, Holoprosencephaly, Mandibul... |
ORPHA:990 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Conductive hearing impairment, Abnormal palate morphology, Hydrocephalus, Malar flattening, Respi... |
ORPHA:93262 |
Intestinal Botulism |
|
Dyspnea, Respiratory insufficiency due to muscle weakness, Xerostomia, Death in infancy, Dysphagi... |
ORPHA:178481 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Abdominal distention, Abdominal pain, Gastroparesis, Malnutrition, Spontaneous esophageal perfora... |
OMIM:277320 |
Infant Acute Respiratory Distress Syndrome |
|
Tachypnea, Hypoxemia, Pneumonia, Respiratory failure, Nasal flaring, Cyanosis |
ORPHA:70587 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Protuberant abdomen, Abdominal distention, Death in infancy |
OMIM:277300 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Hypoperistalsis, Abdominal distention |
OMIM:619365 |
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Widely-spaced incisors, Protruding ear, Smooth philtrum, Optic atrophy, Thin upper lip vermilion,... |
OMIM:618737 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Death in childhood, Neonatal respiratory distress, Gastroesophageal reflux, Feeding difficulties,... |
OMIM:618426 |
Letterer-Siwe Disease |
|
Jaundice, Dyspnea, Stomatitis, Abdominal distention |
OMIM:246400 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Dyspnea, Tachypnea |
OMIM:267450 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Abdominal distention, Protein-losing enteropathy, Death in infancy, Neonatal death, Long philtrum... |
OMIM:608104 |
Split-Hand/Foot Malformation 3 |
|
High palate, Abnormal pinna morphology, Cleft palate, Narrow mouth, Microretrognathia, Hypoplasia... |
OMIM:246560 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Feeding difficulties, Respiratory distress, Thin vermilion border, Macrotia, Micrognathia, Short ... |
ORPHA:261304 |
Crouzon Syndrome |
|
Multiple suture craniosynostosis, Conductive hearing impairment, Hydrocephalus, Respiratory insuf... |
ORPHA:207 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Feeding difficulties, Bifid uvula, Mixed hearing impairment, Posteriorly rotated ears, Cleft pala... |
OMIM:606164 |
Dysostosis Multiplex, Ain-Naz Type |
|
Abdominal distention, Difficulty walking |
OMIM:619345 |
Alternating Hemiplegia Of Childhood |
|
Aspiration, Ataxia, Vomiting, Anorexia, Abdominal distention, Apnea, Dysphagia, Respiratory distr... |
ORPHA:2131 |
Meckel Syndrome, Type 8 |
|
Cleft upper lip, Abdominal distention, Cleft palate |
OMIM:613885 |
Fetal Akinesia Deformation Sequence |
|
Camptodactyly of finger, Intestinal hypoplasia, Respiratory insufficiency, Posteriorly rotated ea... |
ORPHA:994 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Low-set ears, Feeding difficulties, Dysphagia, Respiratory distress, Microretrognathia, Agenesis ... |
ORPHA:89844 |
Frontonasal Dysplasia 1 |
|
Median cleft palate, Low-set ears, Conductive hearing impairment, Hypoplastic frontal sinuses, An... |
OMIM:136760 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Inability to walk |
OMIM:617977 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Low-set ears, High palate, Arthrogryposis multiplex congenita, Retrognathia, Facial diplegia, Hyp... |
OMIM:618186 |
Cardiomyopathy, Dilated, 2H |
|
Feeding difficulties, Cardiorespiratory arrest, Neonatal death, Tachypnea |
OMIM:620203 |
Thyroid Lymphoma |
|
Dyspnea, Dysphagia, Upper airway obstruction, Respiratory distress, Stridor |
ORPHA:97285 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
Achalasia-Microcephaly Syndrome |
|
Achalasia |
OMIM:200450 |
Synaptic Congenital Myasthenic Syndromes |
|
Neonatal respiratory distress, High palate, Pulmonary arterial hypertension, Abnormality of the k... |
ORPHA:98915 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Low-set ears, High palate, Inability to walk, Feeding difficulties, Chronic constipation, Attenti... |
OMIM:619383 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Camptodactyly of finger, Retrognathia, Bifid uvula, Submucous cleft hard palate, Mandibular progn... |
ORPHA:2521 |
Orofacial Cleft 13 |
|
Oligodontia, Retrognathia, Malar flattening, Micrognathia, Cleft soft palate |
OMIM:613857 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Conductive hearing impairment, Abnormal antihelix morphology, Supernumerary tooth, Carious teeth,... |
ORPHA:3145 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Dyspnea, Abnormal lip morphology, Feeding difficulties, Retrognathia, Microdontia, High, narrow p... |
ORPHA:2707 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Low-set ears, High palate, Conductive hearing impairment, Open mouth, Bifid uvula, Submucous clef... |
OMIM:617412 |
Branchiootic Syndrome |
|
Conductive hearing impairment, Abnormality of the inner ear, Atresia of the external auditory can... |
ORPHA:52429 |
Perry Syndrome |
|
Disinhibition, Short stepped shuffling gait, Respiratory insufficiency, Hypoventilation, Central ... |
OMIM:168605 |
Lethal Congenital Contracture Syndrome 8 |
|
Distal arthrogryposis, Facial diplegia, Distal amyotrophy, Death in infancy, Neonatal death, Peri... |
OMIM:616287 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Chronic otitis media, Respiratory distress, Bronchiectasis, Agenesis of corpus callosum, Abnormal... |
OMIM:619466 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Ataxia, Knee flexion contracture, High, narrow palate, Telangiectasia, Respiratory distress, Smoo... |
OMIM:608799 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Feeding difficulties, Ataxia, Loss of ambulation, Abdominal pain, Dysphagia, Respiratory distress... |
OMIM:620166 |
Lujan-Fryns Syndrome |
|
High palate, Low-set ears, Abnormality of the dentition, Camptodactyly of finger, Protruding ear,... |
ORPHA:776 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Feeding difficulties, Ataxia, Poor appetite, Agitation, Reye syndrome-like episodes, Respiratory ... |
ORPHA:927 |
Mandibulofacial Dysostosis With Alopecia |
|
Low-set ears, Conductive hearing impairment, Protruding ear, Trismus, Cleft palate, Everted lower... |
OMIM:616367 |
Aarskog-Scott Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of the dentition, External ear malformation, Campt... |
ORPHA:915 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent otitis media, Hearing impairment |
OMIM:615993 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Achalasia, Hearing impairment |
OMIM:221350 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Craniosynostosis, Tooth agenesis, Anteriorly placed anus, Hydrocephalus, Malar flattening, Cleft ... |
ORPHA:1555 |
Anaplastic Thyroid Carcinoma |
|
Dyspnea, Stridor, Cough, Dysphagia, Upper airway obstruction, Respiratory distress, Tracheoesopha... |
ORPHA:142 |
Acute Lung Injury |
|
Dyspnea, Alcoholism, Hypoxemia, Respiratory distress, Respiratory failure, Pneumonia, Tachypnea |
ORPHA:178320 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Craniosynostosis, Knee flexion contracture, Lateral ventricle dilatation, Gastrostomy tube feedin... |
ORPHA:284417 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Low-set ears, High palate, Inability to walk, Feeding difficulties, Protruding ear, Ataxia, Diffi... |
ORPHA:481152 |
Staphylococcal Necrotizing Pneumonia |
|
Dyspnea, Tachypnea, Alcoholism, Cough, Hypoxemia, Nonproductive cough, Respiratory distress, Pleu... |
ORPHA:36238 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Dyspnea, Difficulty walking, Cough, Abdominal pain, Respiratory distress, Waddling gait |
ORPHA:86812 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Avian Influenza |
|
Miscarriage, Dyspnea, Tachypnea, Cough, Productive cough, Hypoxemia, Nonproductive cough, Abdomin... |
ORPHA:454836 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Feeding difficulties, Retrognathia, Hydrocephalus, Retinal telangiectasia, Malar flattening, Mand... |
OMIM:620157 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Neonatal respiratory distress, Oxygen desaturation on exertion, Wheezing, Difficulty walking, Ata... |
OMIM:610978 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Thyroid Hypoplasia |
|
Macroglossia, Jaundice, Abdominal distention, Constipation |
ORPHA:95720 |
Fabry Disease |
|
Dyspnea, Chronic pulmonary obstruction, Malabsorption, Angiokeratoma, Anorexia, Mucosal telangiec... |
ORPHA:324 |
Auriculocondylar Syndrome 3 |
|
Retrognathia, Bifid uvula, Glossoptosis, Stenosis of the external auditory canal, Micrognathia, B... |
OMIM:615706 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Loss of ambulation, Hearing impairment, Dysphagia, Gastrointestinal dysmotility, Cy... |
ORPHA:391428 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Abnormality of the dentition, Abnormal intestine morphology, Polyarticular arthritis, Achalasia, ... |
OMIM:615952 |
Wolman Disease |
|
Steatorrhea, Abdominal distention, Esophageal varix, Malnutrition, Nausea and vomiting, Hepatic f... |
ORPHA:75233 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Low-set ears, Protuberant abdomen, Flat acetabular roof, Widely spaced teeth, Respiratory distres... |
OMIM:617102 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Thin upper lip vermilion, Long philtrum |
OMIM:614741 |
Autosomal Recessive Centronuclear Myopathy |
|
High palate, Retrognathia, Facial diplegia, Protruding ear, Bifid uvula, Type 1 muscle fiber pred... |
ORPHA:169186 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Abnormal anterior horn cell morphology, High palate, Respiratory insufficiency, Knee flexion cont... |
ORPHA:1145 |
Spinocerebellar Ataxia Type 27 |
|
Limb ataxia, Gait disturbance, Difficulty walking, Gait ataxia, Akinesia, Truncal ataxia |
ORPHA:98764 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Diarrhea, Hematochezia, Protein-losing enteropathy, Abdominal distention |
ORPHA:103910 |
Nipah Virus Disease |
|
Cough, Nausea and vomiting, Anorexia, Respiratory distress |
ORPHA:99825 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Diaphanospondylodysostosis |
|
Respiratory distress, Cleft palate |
ORPHA:66637 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Flexion contracture, Congenital pyloric atresia, Neonatal death, Microtia |
OMIM:612138 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Abnormality of the dentition, Tooth malposition, Abnormal palate morphology, Submuco... |
ORPHA:2712 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Hypoperistalsis, Abdominal distention, Death in infanc... |
ORPHA:2241 |
Isolated Childhood Apraxia Of Speech |
|
Overfolded helix, Submucous cleft hard palate, High, narrow palate |
ORPHA:209908 |
Benign Familial Neonatal Epilepsy |
|
Gastroesophageal reflux, Circumoral cyanosis, Apnea |
ORPHA:1949 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Low-set ears, Conductive hearing impairment, Retrognathia, Bifid uvula, Posteriorly rotated ears,... |
ORPHA:2780 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Gastroesophageal reflux, Abnormality of the knee, Abnormality of the wrist, Gastrostomy tube feed... |
ORPHA:93316 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Feeding difficulties, Difficulty walking, Respiratory insufficiency, Meconium ileus, Apnea, Cyanosis |
OMIM:617239 |
Congenital Tufting Enteropathy |
|
Anal atresia, Secretory diarrhea, Malabsorption, Steatorrhea, Villous atrophy, Abdominal distenti... |
ORPHA:92050 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Low-set ears, Camptodactyly, Abnormality of the dentition, Posteriorly rotated ears, Long philtru... |
OMIM:618529 |
17Q24.2 Microdeletion Syndrome |
|
Tooth malposition, Abnormality of the wrist, Recurrent otitis media, Progressive conductive heari... |
ORPHA:529962 |
Orofaciodigital Syndrome Type 5 |
|
Abnormality of the philtrum, Bifid uvula, Enamel hypoplasia, Aganglionic megacolon, High, narrow ... |
ORPHA:2919 |
Multiple Pterygium Syndrome, Lethal Type |
|
Low-set ears, Vertebral fusion, Joint dislocation, Cleft palate, Multiple pterygia, Micrognathia,... |
OMIM:253290 |
Lead Poisoning |
|
Miscarriage, Abnormal respiratory system physiology, Anorexia, Attention deficit hyperactivity di... |
ORPHA:330015 |
Microphthalmia, Syndromic 12 |
|
Retrognathia, Micrognathia, Neonatal death, Cleft palate, Congenital diaphragmatic hernia, Intest... |
OMIM:615524 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Optic atrophy, Feeding difficulties |
ORPHA:26792 |
Kniest Dysplasia |
|
Tracheomalacia, Gait disturbance, Conductive hearing impairment, Abnormal cartilage collagen, Hip... |
OMIM:156550 |
8Q22.1 Microdeletion Syndrome |
|
Craniosynostosis, Low-set ears, Camptodactyly of finger, Abnormality of the dentition, Abnormal p... |
ORPHA:178303 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal optic disc morphology, Oligodontia, Low-set ears, Severe sensorineural hearing impairmen... |
ORPHA:363417 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Intestinal malrotation, Hypoxemia |
ORPHA:2140 |
Congenital Tracheomalacia |
|
Intercostal retractions, Productive cough, Pneumothorax, Cyanosis, Esophageal atresia, Pulmonary ... |
ORPHA:95430 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Feeding difficulties, Anorexia, Abdominal pain, Respiratory distress, Nausea and vomiting, Choreo... |
ORPHA:79312 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Low-set ears, High palate, Prominent metopic ridge, Aspiration pneumonia, Deep philtrum, Hypovent... |
ORPHA:314655 |
Crouzon Syndrome |
|
High palate, Coronal craniosynostosis, Conductive hearing impairment, Hydrocephalus, Mandibular p... |
OMIM:123500 |
Visceral Myopathy 1 |
|
Megaduodenum, Abdominal distention, Aganglionic megacolon, Abdominal pain, Dysphagia, Constipatio... |
OMIM:155310 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Cleft hard palate, Knee flexion contracture, Fixed elbow flexion, Microgn... |
ORPHA:166016 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Craniosynostosis, Limited elbow extension, High palate, Palmoplantar cutis laxa, Bifid uvula, Hyd... |
OMIM:123790 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Jaundice, Abdominal distention, Death in infancy, Feeding difficulties in ... |
OMIM:613070 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Pulmonary arterial hypertension, Bowel incontinence, Gastroesophageal reflux, Palmoplantar cutis ... |
OMIM:616482 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Neonatal respiratory distress, Tracheomalacia, Anteriorly placed anus, Abnormal pinna morphology,... |
OMIM:217980 |
Van Maldergem Syndrome 1 |
|
Anal atresia, High palate, Conductive hearing impairment, Irregular dentition, Anteriorly placed ... |
OMIM:601390 |
Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the wrist, Camptodactyly of finger, Abnormality of the wrist, Narrow mouth, Se... |
ORPHA:1529 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Craniosynostosis, Low-set ears, High palate, Conductive hearing impairment, Gastroesophageal refl... |
OMIM:182212 |
Native American Myopathy |
|
High palate, Camptodactyly, Conductive hearing impairment, Bifid uvula, Muscle fiber atrophy, Ske... |
ORPHA:168572 |
Distal 17P13.1 Microdeletion Syndrome |
|
High palate, Retrognathia, Protruding ear, Limitation of knee mobility, Limited elbow movement, H... |
ORPHA:319171 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Dysphagia, Respiratory insufficiency due to muscle weakness, Respiratory distress |
OMIM:613561 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Anal atresia, Mandibular prognathia, Macrotia, Hypoplasia of the maxilla |
ORPHA:93950 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Protruding ear, Hydrocephalus |
OMIM:618302 |
Lethal Recessive Chondrodysplasia |
|
Macroglossia, Respiratory distress, Flared elbow metaphyses, Micrognathia |
ORPHA:1423 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Microtia, third degree, Bifid uvula, Hearing impairment, Cleft palate, N... |
ORPHA:2554 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Respiratory insufficiency, Death in infancy, Respiratory distress, Respiratory failure, T... |
OMIM:614299 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Intestinal polyp, Open mouth, Protuberant abdomen, Gait disturbance, Hyperactivity, Long philtrum... |
ORPHA:457485 |
Sialuria |
|
Macroglossia, High palate, Protuberant abdomen, Attention deficit hyperactivity disorder, Sleep a... |
OMIM:269921 |
Peritoneal Cystic Mesothelioma |
|
Constipation, Abdominal distention, Abdominal pain |
ORPHA:168816 |
Esophageal Atresia |
|
Aspiration, Chronic pulmonary obstruction, Hearing impairment, Cleft palate, Morphological abnorm... |
ORPHA:1199 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Feeding difficulties in infancy, Paroxysmal dyspnea, Respiratory failure, Cyanosis, Stridor |
ORPHA:444013 |
Distal Xq28 Microduplication Syndrome |
|
Open mouth, High palate, Short lingual frenulum, Attention deficit hyperactivity disorder, Tip-to... |
ORPHA:293939 |
Mirage Syndrome |
|
Gastroesophageal reflux, Aspiration pneumonia, Hydrocephalus, Achalasia, Esophageal stricture, Pe... |
OMIM:617053 |
Arthrogryposis Multiplex Congenita 5 |
|
Prominent antihelix, Neonatal respiratory distress, Hip dislocation, Restrictive ventilatory defe... |
OMIM:618947 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal palate morphology, Respiratory insufficiency, Atresia... |
ORPHA:245 |
Acute Interstitial Pneumonia |
|
Dyspnea, Tachypnea, Decreased DLCO, Hypoxemia, Bronchiectasis, Respiratory failure, Nonproductive... |
ORPHA:79126 |
Mucopolysaccharidosis Type 2 |
|
Macroglossia, Abnormal nasal mucus secretion, Conductive hearing impairment, Hyperactivity, Tempo... |
ORPHA:580 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Low-set, posteriorly rotated ears, High palate, Conductive hearing impairment, Abnormality of the... |
ORPHA:1307 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Erythema, Ataxia, Recurrent aphthous stomatitis, Intestinal obstruction, Abdominal pain, Purpura,... |
ORPHA:343 |
Multiple Carboxylase Deficiency |
|
Feeding difficulties, Ataxia, Hearing impairment, Respiratory distress, Tachypnea, Optic atrophy |
ORPHA:148 |
Amish Lethal Microcephaly |
|
Feeding difficulties, Spina bifida, Death in infancy, Micrognathia, Cleft soft palate, Optic atro... |
ORPHA:99742 |
Myotubular Myopathy With Abnormal Genital Development |
|
High palate, Feeding difficulties, Death in infancy, Neonatal death, Respiratory distress |
OMIM:300219 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Low-set ears, Esophageal atresia, Conductive hearing impairment, Malar flattening, Deep philtrum,... |
OMIM:610536 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
High palate, Plantar flexion contracture, Paradoxical respiration, Peripheral axonal neuropathy, ... |
OMIM:620011 |
Apert Syndrome |
|
Esophageal atresia, Conductive hearing impairment, Bifid uvula, Hydrocephalus, Respiratory insuff... |
ORPHA:87 |
Tarp Syndrome |
|
Prominent antihelix, Low-set, posteriorly rotated ears, Abnormal duodenum morphology, Abnormal an... |
ORPHA:2886 |
20P12.3 Microdeletion Syndrome |
|
Malar flattening, Narrow mouth, Long philtrum, Microtia, Hypoplasia of the maxilla, Thickened hel... |
ORPHA:261295 |
Meckel Syndrome 14 |
|
Low-set ears, Protuberant abdomen, Retrognathia, Occipital encephalocele, Holoprosencephaly, Abdo... |
OMIM:619879 |
Postencephalitic Parkinsonism |
|
Open mouth, Abnormal respiratory system physiology, Cough, Dysphagia, Akinesia, Vomiting |
ORPHA:97349 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal antitragus morphology, Camptodactyly of finger, Malar... |
ORPHA:1968 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood, Feeding difficulties |
OMIM:615597 |
Congenital Hypothyroidism |
|
Macroglossia, Angiokeratoma corporis diffusum, Intestinal obstruction, Abdominal distention, Prol... |
ORPHA:442 |
Familial Nasal Acilia |
|
Dyspnea, Chronic sinusitis, Chronic rhinitis, Respiratory distress, Bronchiectasis |
ORPHA:922 |
Double Outlet Right Ventricle |
|
Feeding difficulties, Submucous cleft hard palate, Cleft palate, Narrow mouth, Tachypnea, Cyanosi... |
ORPHA:3426 |
Niemann-Pick Disease, Type A |
|
Protuberant abdomen, Inability to walk, Prolonged neonatal jaundice, Athetosis, Constipation, Fee... |
OMIM:257200 |
Stickler Syndrome, Type I |
|
Conductive hearing impairment, Bifid uvula, Arthropathy, Malar flattening, Submucous cleft hard p... |
OMIM:108300 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Inability to walk, Ataxia, Attention deficit hyperactivity disorder, Protruding tongue, Apnea, Ga... |
OMIM:619580 |
Achondrogenesis Type 1A |
|
Long philtrum, Abdominal distention |
ORPHA:93299 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Congenital hip dislocation, Abnormal palate morphology, Abnormality of the knee, Malar flattening... |
ORPHA:2412 |
Al Amyloidosis |
|
Macroglossia, Dyspnea, Bruising susceptibility, Abnormal salivary gland morphology, Xerostomia, A... |
ORPHA:85443 |
Oculogastrointestinal Muscular Dystrophy |
|
Malabsorption, Abdominal distention, Gastroparesis, Spontaneous esophageal perforation, Intestina... |
ORPHA:1876 |
Cirrhosis, Familial |
|
Pulmonary arterial hypertension, Jaundice, Abdominal distention, Fulminant hepatitis, Esophageal ... |
OMIM:215600 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Myopathy, Neonatal death, Hearing impairment, Flexion contracture, Optic atrophy |
OMIM:618237 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Dyspnea, Decreased DLCO, Restrictive ventilatory defect, Cough, Hypoxemia, Cyanosis, Crackles |
ORPHA:747 |
Hydrolethalus |
|
Low-set ears, Low-set, posteriorly rotated ears, Retrognathia, Bifid uvula, Hydrocephalus, Unilat... |
ORPHA:2189 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Vomiting |
OMIM:237310 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Anal atresia, Abdominal distention, Cleft palate, Intestinal malrotation, Rectovaginal fistula, S... |
OMIM:270420 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Low-set ears, High palate, Feeding difficulties, Anteriorly placed anus, Hydrocephalus, Submucous... |
OMIM:612863 |
Tetanus |
|
Bowel incontinence, Trismus, Autonomic bladder dysfunction, Abnormal autonomic nervous system phy... |
ORPHA:3299 |
Coffin-Lowry Syndrome |
|
Death in early adulthood, Craniofacial hyperostosis, Open mouth, High palate, Gait disturbance, P... |
ORPHA:192 |
Stickler Syndrome Type 1 |
|
Osteoarthritis, Cleft palate, Long philtrum, Sensorineural hearing impairment, Hypoplasia of the ... |
ORPHA:90653 |
Meier-Gorlin Syndrome 5 |
|
Low-set ears, Gastroesophageal reflux, Feeding difficulties, Prominent metopic ridge, Patellar ap... |
OMIM:613805 |
Acrocephalopolydactyly |
|
Protuberant abdomen |
ORPHA:221054 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormality of the philtrum, Low-set ears, Abnormal antitragus morphology, Abnormal lip morpholog... |
ORPHA:2759 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Cupped ear, Macrotia, Short philtrum, Hypoplasia of the maxilla |
ORPHA:93945 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Feeding difficulties in infancy, Tachypnea |
ORPHA:45452 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Unilateral cleft palate, Unilateral cleft lip, Submucous cleft hard palate, Scapular winging, Dar... |
OMIM:619122 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
High palate, External ear malformation, Ataxia, Abnormality of primary teeth, Tented upper lip ve... |
ORPHA:438216 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Peripheral demyelination, Feeding difficulties, Hearing impairment |
OMIM:616733 |
Nemaline Myopathy 10 |
|
Skeletal muscle atrophy, Death in infancy, Nemaline bodies, Fatty replacement of skeletal muscle,... |
OMIM:616165 |
Obsolete: Arnold-Chiari Malformation Type Ii |
|
Feeding difficulties, Partial agenesis of the corpus callosum, Myelomeningocele, Hydrocephalus, M... |
ORPHA:1136 |
Meconium Aspiration Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia, Hypoxemia, Respiratory distress, Neonatal ... |
ORPHA:70588 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Intestinal malrotation, Pulmonary arterial hypertension, Hypoperistalsis, Tachypnea |
OMIM:613834 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
High palate, Camptodactyly of finger, Hypoplasia of the maxilla, Protruding ear |
ORPHA:85279 |
Lethal Kniest-Like Dysplasia |
|
Low-set ears, Wide anterior fontanel, Abnormal cartilage matrix, Cleft palate, Abnormal cartilage... |
ORPHA:2347 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Dyspnea, Intermittent jaundice, Episodic abdominal pain, Facial telangiectasia, Anorexia, Abdomin... |
ORPHA:100085 |
Van Maldergem Syndrome 2 |
|
High palate, Tracheomalacia, Conductive hearing impairment, Irregular dentition, Anteriorly place... |
OMIM:615546 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Submucous cleft hard palate, Joint dislocation, High, narrow palate, Abn... |
ORPHA:3201 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
High palate, Protruding ear, Recurrent otitis media, Macrotia, Micrognathia, Cyanosis, Thin upper... |
ORPHA:3304 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Motor axonal neuropathy, Ataxia, Achalasia, Abnormal autonomic nervous system physiology, Orthost... |
OMIM:231550 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Genu valgum, Progeroid facial appearance, Sensorineural hearing impairment, Cubitus valgus, Disha... |
OMIM:608154 |
Spinocerebellar Ataxia 21 |
|
Limb ataxia, Progressive cerebellar ataxia, Ataxia, Gait ataxia, Akinesia, Impulsivity |
OMIM:607454 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Jaundice, Abnormal pinna morphology, Wide anterior fontanel, Neonatal death, Respiratory distress... |
OMIM:231680 |
Holocarboxylase Synthetase Deficiency |
|
Ataxia, Anorexia, Respiratory distress, Tachypnea, Nausea and vomiting |
ORPHA:79242 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Prominent antihelix, Retrognathia, Posteriorly rotated ears, Smooth philtrum, Cleft soft palate, ... |
ORPHA:293725 |
Nephrotic Syndrome, Type 1 |
|
Neonatal respiratory distress, Abdominal distention, Gastroesophageal reflux, Pyloric stenosis |
OMIM:256300 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Hydrocephalus, Cleft palate, Pterygium, Micrognathia, Akinesia, Agenesis of corp... |
OMIM:225790 |
Saethre-Chotzen Syndrome |
|
Craniosynostosis, Low-set ears, Proximal radio-ulnar synostosis, Conductive hearing impairment, E... |
ORPHA:794 |
Gaucher Disease, Type Ii |
|
Protuberant abdomen, Gastroesophageal reflux, Feeding difficulties, Cough, Death in infancy, Apne... |
OMIM:230900 |
Van Der Woude Syndrome 1 |
|
Bifid uvula, Cleft palate, Hypodontia, Cleft upper lip, Lower lip pit |
OMIM:119300 |
Bor Syndrome |
|
External ear malformation, Retrognathia, Abnormality of the middle ear ossicles, Atresia of the e... |
ORPHA:107 |
Achalasia, Familial Esophageal |
|
Achalasia, Xerostomia, Rheumatoid arthritis |
OMIM:200400 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae, Diarrhea, Ataxia |
ORPHA:51188 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Inability to walk, Bilateral elbow dislocations, Carpal osteolysis, Wrist swelling, Ankle swellin... |
OMIM:166300 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Tip-toe gait, Choreoathetosis, Nausea |
ORPHA:37612 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Birk-Barel Syndrome |
|
High palate, Bifid uvula, Dysphagia, Reduced subcutaneous adipose tissue, Tented upper lip vermil... |
OMIM:612292 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Gait disturbance, Difficulty walking, Lateral ventricle dilatation, Dysplastic corpus callosum, D... |
ORPHA:488627 |
Schilbach-Rott Syndrome |
|
Bifid uvula, Posteriorly rotated ears, Submucous cleft hard palate, Narrow mouth, Micrognathia, M... |
OMIM:164220 |
Arthrogryposis, Distal, Type 3 |
|
Camptodactyly of finger, High palate, Camptodactyly of toe, Congenital hip dislocation, Bifid uvu... |
OMIM:114300 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Akinesia, Feeding difficulties, Freezing of gait |
OMIM:619911 |
Loeys-Dietz Syndrome 5 |
|
Cleft soft palate, High palate, Retrognathia, Bifid uvula, Decreased muscle mass, Hiatus hernia, ... |
OMIM:615582 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Abdominal distention, Protein-losing enteropathy, Death in infancy, Cleft palate, Sm... |
OMIM:235255 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
High palate, Feeding difficulties, Death in infancy, Irregular respiration, Respiratory distress,... |
OMIM:604377 |
Branchiootorenal Syndrome 1 |
|
Cholesteatoma, Bifid uvula, Cleft palate, Cupped ear, Hypoplasia of the cochlea, Branchial cyst, ... |
OMIM:113650 |
Cree Mental Retardation Syndrome |
|
Posteriorly rotated ears, Cleft soft palate, Low-set ears, Micrognathia |
OMIM:606851 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Inability to walk, Feeding difficulties, Difficulty walking, Ataxia, Achalasia, Esophagitis, Athe... |
OMIM:615356 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Dysphagia, Respiratory distress |
ORPHA:240103 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Gastroesophageal reflux, Optic neuropathy, Optic disc pallor, Hearing impairment, Akinesia, Optic... |
OMIM:618249 |
Generalized Arterial Calcification Of Infancy |
|
Pulmonary arterial hypertension, Conductive hearing impairment, Feeding difficulties, Abnormal ca... |
ORPHA:51608 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Agitation, Ankyloglossia, Widely spaced teeth, Hearing impairment, Cleft palate, Smooth philtrum,... |
OMIM:619950 |
Pancreatoblastoma |
|
Jaundice, Abdominal distention, Abdominal pain, Diarrhea, Vomiting |
ORPHA:677 |
Lowry-Maclean Syndrome |
|
Craniosynostosis, Midgut malrotation, Low-set ears, Retrognathia, Pyloric stenosis, Hydrocephalus... |
ORPHA:2409 |
Atypical Juvenile Parkinsonism |
|
Inability to walk, Short stepped shuffling gait, Gait ataxia, Akinesia, Shuffling gait |
ORPHA:391411 |
Meier-Gorlin Syndrome 4 |
|
Low-set ears, Patellar aplasia, Feeding difficulties, Genu recurvatum, Narrow mouth, Emphysema, M... |
OMIM:613804 |
Maxillonasal Dysplasia |
|
Tooth agenesis, Mandibular prognathia, Microdontia, Cleft palate, Open bite, Hypoplasia of the ma... |
ORPHA:1248 |
Mitochondrial Phosphate Carrier Deficiency |
|
Respiratory insufficiency, Cyanosis |
OMIM:610773 |
Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Dyspnea, Cough, Gastrointestinal infarctions, Hypoxemia, Telangi... |
ORPHA:2038 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abdominal distention |
ORPHA:369 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Abnormal cranial nerve morphology, Abnormal vestibulo-ocular reflex, Ataxia, Abnormal autonomic n... |
ORPHA:247234 |
Meier-Gorlin Syndrome 1 |
|
Hearing impairment, Cleft palate, Narrow mouth, Aplasia/Hypoplasia of the patella, Feeding diffic... |
OMIM:224690 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
High palate, Deep philtrum, Respiratory distress, Dental malocclusion, Nasogastric tube feeding, ... |
ORPHA:329178 |
X-Linked Acrogigantism |
|
Polyphagia, Snoring, Diastema, Ataxia, Abdominal distention, Sleep apnea |
ORPHA:300373 |
Odontochondrodysplasia |
|
Retrognathia, Death in infancy, Respiratory distress, Delayed eruption of teeth, Dentinogenesis i... |
ORPHA:166272 |
Glucose-Galactose Malabsorption |
|
Vomiting, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds |
ORPHA:35710 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
High palate, Diastema, Hyperactivity, Protruding ear, Restlessness, Mandibular prognathia, Smooth... |
OMIM:300534 |
Mercury Poisoning |
|
Dyspnea, Anorexia, Respiratory distress, Nausea, Respiratory failure, Episodic abdominal pain, In... |
ORPHA:330021 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Death in childhood, High palate, Ataxia, Respiratory insufficiency due to muscle weakness, Respir... |
OMIM:220110 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Cleft soft palate, Uplifted earlobe, Pierre-Robin sequence, Thin upper lip vermilion |
OMIM:620183 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Prominent antihelix, Joint contracture of the 5th finger, Long philtrum, Macrotia, ... |
OMIM:614407 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
High palate, Posteriorly rotated ears, Submucous cleft hard palate, Protruding tongue, Dental cro... |
OMIM:618106 |
Congenital Fibrinogen Deficiency |
|
Gingival bleeding, Bruising susceptibility, Volvulus, Abdominal pain, Cyanosis, Subcutaneous hemo... |
ORPHA:335 |
Cerebrocostomandibular Syndrome |
|
Neonatal respiratory distress, Low-set ears, High palate, Conductive hearing impairment, Anterior... |
OMIM:117650 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hip dislocation, Hydrocephalus, Malar flattening, Abnormal auditory evoked potentials, Sensorineu... |
OMIM:109120 |
Slc35A1-Cdg |
|
Respiratory distress, Hypoxemia, Pneumonia, Subcutaneous hemorrhage |
ORPHA:238459 |
Pitt-Hopkins Syndrome |
|
Gastroesophageal reflux, Tooth malposition, Abnormal palate morphology, Ataxia, Abnormal helix mo... |
ORPHA:2896 |
Castleman Disease |
|
Jaundice, Dyspnea, Cough, Intestinal obstruction, Abdominal distention, Abdominal pain, Nausea an... |
ORPHA:160 |
Carpenter Syndrome 1 |
|
Low-set ears, High palate, Conductive hearing impairment, Coronal craniosynostosis, Agenesis of p... |
OMIM:201000 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Gait ataxia, Progressive cerebellar ataxia |
ORPHA:98773 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Nausea and vomiting, Choreoathetosis |
ORPHA:289916 |
Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Smooth philtrum, Micrognathia, Cleft soft palate, Facial hypotonia |
OMIM:614526 |
Cohen Syndrome |
|
Open mouth, High, narrow palate, Genu valgum, Cubitus valgus, Micrognathia, Feeding difficulties ... |
OMIM:216550 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
High palate, Mandibular prognathia, Chronic constipation, Hypoplasia of the maxilla |
OMIM:300676 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Jaundice, Abdominal distention, Fulminant hepatic failure |
OMIM:618528 |
Neuromuscular Oculoauditory Syndrome |
|
Aspiration, Unsteady gait, Sensory axonal neuropathy, Posteriorly rotated ears, Decreased amplitu... |
OMIM:618733 |
Colonic Atresia |
|
Colonic atresia, Peptic ulcer, Abdominal distention, Duodenal stenosis |
ORPHA:1198 |
Acute Intermittent Porphyria |
|
Ileus, Weakness of muscles of respiration, Restlessness, Respiratory insufficiency, Pseudobulbar ... |
ORPHA:79276 |
Mohr Syndrome |
|
High palate, Conductive hearing impairment, Hydrocephalus, Malar flattening, Accessory oral frenu... |
OMIM:252100 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Conical tooth, Conductive hearing impairment, Selective tooth agenesis, Widely spaced teeth, Atre... |
OMIM:106260 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Macroglossia, Camptodactyly of finger, Conductive hearing impairment, Temporomandibular joint ank... |
ORPHA:217085 |
Dubowitz Syndrome |
|
Protruding ear, Malabsorption, Hearing impairment, Rectal prolapse, Anal stenosis, Chronic diarrh... |
ORPHA:235 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Low-set ears, Protruding ear, Mandibular prognathia, Smooth philtrum, Cubitus valgus, Hypoplasia ... |
ORPHA:1778 |
Craniosynostosis 2 |
|
Craniosynostosis, Bicoronal synostosis, Metopic synostosis, Wormian bones, Unicoronal synostosis,... |
OMIM:604757 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Restlessness, Shuffling gait |
OMIM:300266 |
Treacher-Collins Syndrome |
|
Tooth agenesis, Cleft palate, Abnormality of the middle ear, Narrow mouth, Rectovaginal fistula, ... |
ORPHA:861 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Macroglossia, Camptodactyly of finger, Conductive hearing impairment, Temporomandibular joint ank... |
ORPHA:217093 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Low-set ears, High palate, Congenital hip dislocation, Unsteady gait, Ataxia, Pyloric stenosis, W... |
ORPHA:457279 |
Odontochondrodysplasia 1 |
|
Genu varum, Flat acetabular roof, Delayed ossification of carpal bones, Death in infancy, Genu re... |
OMIM:184260 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus, Wide anterior fontanel, Poor suck, Delayed closure of the anterior fontanelle, Hep... |
OMIM:614886 |
Cohen Syndrome |
|
Open mouth, Abnormality of the dentition, Tooth agenesis, Aplasia/Hypoplasia of the tongue, Hypop... |
ORPHA:193 |
Gonadoblastoma |
|
Abdominal distention, Abdominal pain |
ORPHA:206484 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Gastroesophageal reflux, Gait disturbance, Malabsorption, Respiratory insufficiency, Cough, Intes... |
ORPHA:183 |
Oromandibular Dystonia |
|
Abnormal lip morphology, Abnormality of the temporomandibular joint, Dysphagia, Respiratory distr... |
ORPHA:93958 |
Spondyloepiphyseal Dysplasia Congenita |
|
Cervical myelopathy, Hip dislocation, Bifid uvula, Malar flattening, Restrictive ventilatory defe... |
OMIM:183900 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Dysphagia, Deep philtrum, Achalasia |
ORPHA:289483 |
Pediatric Systemic Lupus Erythematosus |
|
Dyspnea, Abdominal distention, Abdominal pain, Diarrhea, Pleural effusion, Vomiting, Oral ulcer |
ORPHA:93552 |
Achondrogenesis, Type Ii |
|
Stillbirth, Protuberant abdomen, Long philtrum, Cleft palate |
OMIM:200610 |
Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Abnormal joint morphology, Microtia, third degree, Bifid uvula, Joint di... |
ORPHA:2753 |
Desmoplastic Small Round Cell Tumor |
|
Abdominal pain, Nausea and vomiting, Ileus, Abdominal distention |
ORPHA:83469 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Death in childhood, Abdominal distention, Death in infancy |
OMIM:619423 |
Necrotizing Enterocolitis |
|
Abdominal distention, Apnea, Bloody diarrhea, Diarrhea, Vomiting |
ORPHA:391673 |
Pycnodysostosis |
|
High palate, Abnormality of the dentition, Coronal craniosynostosis, Persistent open anterior fon... |
ORPHA:763 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Anorexia, Abdominal distention, Recurrent infection of the gastrointestinal tract, Abdominal pain... |
ORPHA:51890 |
Marshall-Smith Syndrome |
|
Death in childhood, Optic nerve hypoplasia, Hearing impairment, Overfolded helix, Bilateral condu... |
OMIM:602535 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia, Hyperactivity, Crowded maxillary incisors |
ORPHA:397973 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Abdominal distention, Microcolon, Neonatal death |
OMIM:619362 |
Ovarian Fibrothecoma |
|
Pleural effusion, Abdominal distention, Abdominal pain |
ORPHA:314478 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Premature loss of teeth, Short philtrum, Thin vermilion border, Hypoplasia of the maxilla |
OMIM:156510 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Genu varum, Mandibular prognathia, Narrow mouth, Downturned co... |
ORPHA:1110 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Coronal craniosynostosis, Aglossia, Malar flattening, Micrognathia, Optic disc colob... |
OMIM:241310 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, High palate, Conductive hearing impairment, Protruding ear, Se... |
ORPHA:1131 |
Buratti-Harel Syndrome |
|
Low-set ears, High palate, Bifid uvula, Posteriorly rotated ears, Submucous cleft hard palate, Ve... |
OMIM:619314 |
Pulmonary Capillary Hemangiomatosis |
|
Dyspnea, Decreased DLCO, Hypoxemia, Elevated pulmonary artery pressure, Exertional dyspnea, Cyano... |
ORPHA:199241 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Jaundice, Ataxia, Loss of ambulation, Abdominal distention, Prolonged neon... |
OMIM:256810 |
Hemifacial Hyperplasia |
|
Dental malocclusion, Hypoplasia of the maxilla |
OMIM:133900 |
Angelman Syndrome |
|
Macroglossia, Hyperactivity, Ataxia, Widely spaced teeth, Mandibular prognathia, Progressive gait... |
OMIM:105830 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Conductive hearing impairment, Protruding ear, Widely spaced teeth, Submucous clef... |
ORPHA:1071 |
Platyspondylic Dysplasia, Torrance Type |
|
Abdominal distention, Cleft palate |
ORPHA:85166 |
Celiac Disease, Susceptibility To, 1 |
|
Stomatitis, Ataxia, Recurrent aphthous stomatitis, Steatorrhea, Abdominal distention, Enamel hypo... |
OMIM:212750 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Feeding difficulties, Restlessness, Respiratory distress, Gastrostomy tube feeding in infancy, Hy... |
ORPHA:544503 |
Inflammatory Pseudotumor Of The Liver |
|
Abdominal distention, Nausea, Vomiting, Abdominal pain |
ORPHA:90003 |
Fetal Gaucher Disease |
|
Low-set, posteriorly rotated ears, High palate, Arthrogryposis multiplex congenita, Death in infa... |
ORPHA:85212 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Low-set ears, High palate, Oligodontia, Prominent metopic ridge, Posteriorly rotated ears, Cleft ... |
OMIM:608670 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Death in childhood, Narrow mouth, Long philtrum, Akinesia, Vomiting |
OMIM:619147 |
Cleidocranial Dysplasia |
|
Chronic otitis media, Abnormality of the dentition, Mandibular prognathia, Abnormal dental enamel... |
ORPHA:1452 |
Hereditary Fructose Intolerance |
|
Jaundice, Abdominal distention, Chronic hepatic failure, Abdominal pain, Constipation, Nausea, Di... |
ORPHA:469 |
Antley-Bixler Syndrome |
|
Craniosynostosis, Elbow ankylosis, Low-set, posteriorly rotated ears, Camptodactyly of finger, Cl... |
ORPHA:83 |
Idiopathic Hypereosinophilic Syndrome |
|
Dyspnea, Angioedema, Malabsorption, Cough, Feeding difficulties in infancy, Pulmonary embolism, C... |
ORPHA:3260 |
Diaphanospondylodysostosis |
|
Tracheomalacia, Low-set ears, Protuberant abdomen, Respiratory insufficiency, Cleft palate, Respi... |
OMIM:608022 |
Microvillus Inclusion Disease |
|
Villous atrophy, Diarrhea, Abnormality of small intestinal villus morphology, Abdominal distention |
ORPHA:2290 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Bifid uvula, Taurodontia, Microdontia, Enamel hypoplasia, Hearing impairment, Clef... |
OMIM:129400 |
Holoprosencephaly 13, X-Linked |
|
Median cleft palate, Colpocephaly, Low-set ears, Gastroesophageal reflux, Duodenal atresia, Submu... |
OMIM:301043 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Falls, Gait imbalance, Neuromuscular dysphagia, Akinesia, Impulsivity |
ORPHA:240071 |
Mirizzi Syndrome |
|
Jaundice, Anorexia, Abdominal distention, Abdominal pain, Abdominal colic, Nausea, Vomiting |
ORPHA:521219 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Abdominal distention, Chylothorax |
OMIM:617300 |
Lethal Congenital Contracture Syndrome 2 |
|
Akinesia, Respiratory failure |
OMIM:607598 |
Cerebrofacioarticular Syndrome |
|
Tracheomalacia, Conductive hearing impairment, Irregular dentition, Ataxia, Anteriorly placed anu... |
ORPHA:314679 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Repeated pneumothoraces, Peripapillary atrophy, Large joint dislocations, Carious teeth, Hydrocep... |
ORPHA:536467 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Hepatic failure, Apnea |
OMIM:261680 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Pfeiffer Syndrome Type 2 |
|
Low-set ears, Anal atresia, High palate, Tracheomalacia, Hydrocephalus, Malar flattening, Aqueduc... |
ORPHA:93259 |
Dental Anomalies And Short Stature |
|
Oligodontia, Widely spaced teeth, Amelogenesis imperfecta, Mandibular prognathia, Microdontia, Hy... |
OMIM:601216 |
Isolated Cleft Lip |
|